Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.2620-674_3367+198del
c.*2334-674_*3081+198del
c.2437-674_3184+198del
c.*920-674_*1667+198del
c.*2444-674_*3191+198del
c.2194-674_2941+198del
c.211-674_958+198del
c.270-674_1017+198del
c.1402-674_2149+198del
c.2530-674_3277+198del
c.2710-674_3457+198del
c.2377-674_3124+198del
7g.117602152_117612040delCA2499218685CFTRc.2620-674_3367+232del
c.*2334-674_*3081+232del
c.2437-674_3184+232del
c.*920-674_*1667+232del
c.*2444-674_*3191+232del
c.2194-674_2941+232del
c.211-674_958+232del
c.270-674_1017+232del
c.1402-674_2149+232del
c.2530-674_3277+232del
c.2710-674_3457+232del
c.2377-674_3124+232del
 ClinVar
7g.117603589G>ACA457227928CFTRc.2715G>A (p.Val905=)
c.*2429G>A (n.*2429G>A)
c.2532G>A (p.Val844=)
c.*1015G>A (n.*1015G>A)
c.*2539G>A (n.*2539G>A)
c.2289G>A (p.Val763=)
c.306G>A (p.Val102=)
c.365G>A
c.1497G>A (p.Val499=)
c.2625G>A (p.Val875=)
c.2805G>A (p.Val935=)
c.2472G>A (p.Val824=)
 ClinVar
7g.117603589G>CCA457227929CFTRc.2715G>C (p.Val905=)
c.*2429G>C (n.*2429G>C)
c.2532G>C (p.Val844=)
c.*1015G>C (n.*1015G>C)
c.*2539G>C (n.*2539G>C)
c.2289G>C (p.Val763=)
c.306G>C (p.Val102=)
c.365G>C
c.1497G>C (p.Val499=)
c.2625G>C (p.Val875=)
c.2805G>C (p.Val935=)
c.2472G>C (p.Val824=)
7g.117603589G>TCA457227930CFTRc.2715G>T (p.Val905=)
c.*2429G>T (n.*2429G>T)
c.2532G>T (p.Val844=)
c.*1015G>T (n.*1015G>T)
c.*2539G>T (n.*2539G>T)
c.2289G>T (p.Val763=)
c.306G>T (p.Val102=)
c.365G>T
c.1497G>T (p.Val499=)
c.2625G>T (p.Val875=)
c.2805G>T (p.Val935=)
c.2472G>T (p.Val824=)
7g.117603590A>CCA368986494CFTRc.2716A>C (p.Ile906Leu)
c.*2430A>C (n.*2430A>C)
c.2533A>C (p.Ile845Leu)
c.*1016A>C (n.*1016A>C)
c.*2540A>C (n.*2540A>C)
c.2290A>C (p.Ile764Leu)
c.307A>C (p.Ile103Leu)
c.366A>C
c.1498A>C (p.Ile500Leu)
c.2626A>C (p.Ile876Leu)
c.2806A>C (p.Ile936Leu)
c.2473A>C (p.Ile825Leu)
7g.117603590A>GCA368986495CFTRc.2716A>G (p.Ile906Val)
c.*2430A>G (n.*2430A>G)
c.2533A>G (p.Ile845Val)
c.*1016A>G (n.*1016A>G)
c.*2540A>G (n.*2540A>G)
c.2290A>G (p.Ile764Val)
c.307A>G (p.Ile103Val)
c.366A>G
c.1498A>G (p.Ile500Val)
c.2626A>G (p.Ile876Val)
c.2806A>G (p.Ile936Val)
c.2473A>G (p.Ile825Val)
7g.117603590A>TCA368986496CFTRc.2716A>T (p.Ile906Phe)
c.*2430A>T (n.*2430A>T)
c.2533A>T (p.Ile845Phe)
c.*1016A>T (n.*1016A>T)
c.*2540A>T (n.*2540A>T)
c.2290A>T (p.Ile764Phe)
c.307A>T (p.Ile103Phe)
c.366A>T
c.1498A>T (p.Ile500Phe)
c.2626A>T (p.Ile876Phe)
c.2806A>T (p.Ile936Phe)
c.2473A>T (p.Ile825Phe)
7g.117603591T>ACA368986497CFTRc.2717T>A (p.Ile906Asn)
c.*2431T>A (n.*2431T>A)
c.2534T>A (p.Ile845Asn)
c.*1017T>A (n.*1017T>A)
c.*2541T>A (n.*2541T>A)
c.2291T>A (p.Ile764Asn)
c.308T>A (p.Ile103Asn)
c.367T>A
c.1499T>A (p.Ile500Asn)
c.2627T>A (p.Ile876Asn)
c.2807T>A (p.Ile936Asn)
c.2474T>A (p.Ile825Asn)
 ClinVar
7g.117603591T>CCA368986498CFTRc.2717T>C (p.Ile906Thr)
c.*2431T>C (n.*2431T>C)
c.2534T>C (p.Ile845Thr)
c.*1017T>C (n.*1017T>C)
c.*2541T>C (n.*2541T>C)
c.2291T>C (p.Ile764Thr)
c.308T>C (p.Ile103Thr)
c.367T>C
c.1499T>C (p.Ile500Thr)
c.2627T>C (p.Ile876Thr)
c.2807T>C (p.Ile936Thr)
c.2474T>C (p.Ile825Thr)
 gnomAD v4
7g.117603591T>GCA368986499CFTRc.2717T>G (p.Ile906Ser)
c.*2431T>G (n.*2431T>G)
c.2534T>G (p.Ile845Ser)
c.*1017T>G (n.*1017T>G)
c.*2541T>G (n.*2541T>G)
c.2291T>G (p.Ile764Ser)
c.308T>G (p.Ile103Ser)
c.367T>G
c.1499T>G (p.Ile500Ser)
c.2627T>G (p.Ile876Ser)
c.2807T>G (p.Ile936Ser)
c.2474T>G (p.Ile825Ser)
 gnomAD v4
7g.117603592T>ACA457227931CFTRc.2718T>A (p.Ile906=)
c.*2432T>A (n.*2432T>A)
c.2535T>A (p.Ile845=)
c.*1018T>A (n.*1018T>A)
c.*2542T>A (n.*2542T>A)
c.2292T>A (p.Ile764=)
c.309T>A (p.Ile103=)
c.368T>A
c.1500T>A (p.Ile500=)
c.2628T>A (p.Ile876=)
c.2808T>A (p.Ile936=)
c.2475T>A (p.Ile825=)
7g.117603592T>CCA457227932CFTRc.2718T>C (p.Ile906=)
c.*2432T>C (n.*2432T>C)
c.2535T>C (p.Ile845=)
c.*1018T>C (n.*1018T>C)
c.*2542T>C (n.*2542T>C)
c.2292T>C (p.Ile764=)
c.309T>C (p.Ile103=)
c.368T>C
c.1500T>C (p.Ile500=)
c.2628T>C (p.Ile876=)
c.2808T>C (p.Ile936=)
c.2475T>C (p.Ile825=)
7g.117603592T>GCA368986500CFTRc.2718T>G (p.Ile906Met)
c.*2432T>G (n.*2432T>G)
c.2535T>G (p.Ile845Met)
c.*1018T>G (n.*1018T>G)
c.*2542T>G (n.*2542T>G)
c.2292T>G (p.Ile764Met)
c.309T>G (p.Ile103Met)
c.368T>G
c.1500T>G (p.Ile500Met)
c.2628T>G (p.Ile876Met)
c.2808T>G (p.Ile936Met)
c.2475T>G (p.Ile825Met)
 gnomAD v4
7g.117603593A=CA1737374597CFTRc.2719A= (p.Ile907=)
c.*2433A= (n.*2433A=)
c.2536A= (p.Ile846=)
c.*1019A= (n.*1019A=)
c.*2543A= (n.*2543A=)
c.2293A= (p.Ile765=)
c.310A= (p.Ile104=)
c.369A=
c.1501A= (p.Ile501=)
c.2629A= (p.Ile877=)
c.2809A= (p.Ile937=)
c.2476A= (p.Ile826=)
7g.117603593A>CCA368986501CFTRc.2719A>C (p.Ile907Leu)
c.*2433A>C (n.*2433A>C)
c.2536A>C (p.Ile846Leu)
c.*1019A>C (n.*1019A>C)
c.*2543A>C (n.*2543A>C)
c.2293A>C (p.Ile765Leu)
c.310A>C (p.Ile104Leu)
c.369A>C
c.1501A>C (p.Ile501Leu)
c.2629A>C (p.Ile877Leu)
c.2809A>C (p.Ile937Leu)
c.2476A>C (p.Ile826Leu)
7g.117603593A>GCA326896CFTRc.2719A>G (p.Ile907Val)
c.*2433A>G (n.*2433A>G)
c.2536A>G (p.Ile846Val)
c.*1019A>G (n.*1019A>G)
c.*2543A>G (n.*2543A>G)
c.2293A>G (p.Ile765Val)
c.310A>G (p.Ile104Val)
c.369A>G
c.1501A>G (p.Ile501Val)
c.2629A>G (p.Ile877Val)
c.2809A>G (p.Ile937Val)
c.2476A>G (p.Ile826Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603593A>TCA368986502CFTRc.2719A>T (p.Ile907Phe)
c.*2433A>T (n.*2433A>T)
c.2536A>T (p.Ile846Phe)
c.*1019A>T (n.*1019A>T)
c.*2543A>T (n.*2543A>T)
c.2293A>T (p.Ile765Phe)
c.310A>T (p.Ile104Phe)
c.369A>T
c.1501A>T (p.Ile501Phe)
c.2629A>T (p.Ile877Phe)
c.2809A>T (p.Ile937Phe)
c.2476A>T (p.Ile826Phe)
7g.117603594T>ACA368986503CFTRc.2720T>A (p.Ile907Asn)
c.*2434T>A (n.*2434T>A)
c.2537T>A (p.Ile846Asn)
c.*1020T>A (n.*1020T>A)
c.*2544T>A (n.*2544T>A)
c.2294T>A (p.Ile765Asn)
c.311T>A (p.Ile104Asn)
c.370T>A
c.1502T>A (p.Ile501Asn)
c.2630T>A (p.Ile877Asn)
c.2810T>A (p.Ile937Asn)
c.2477T>A (p.Ile826Asn)
 ClinVar
7g.117603594T>CCA368986504CFTRc.2720T>C (p.Ile907Thr)
c.*2434T>C (n.*2434T>C)
c.2537T>C (p.Ile846Thr)
c.*1020T>C (n.*1020T>C)
c.*2544T>C (n.*2544T>C)
c.2294T>C (p.Ile765Thr)
c.311T>C (p.Ile104Thr)
c.370T>C
c.1502T>C (p.Ile501Thr)
c.2630T>C (p.Ile877Thr)
c.2810T>C (p.Ile937Thr)
c.2477T>C (p.Ile826Thr)
7g.117603594T>GCA4451278CFTRc.2720T>G (p.Ile907Ser)
c.*2434T>G (n.*2434T>G)
c.2537T>G (p.Ile846Ser)
c.*1020T>G (n.*1020T>G)
c.*2544T>G (n.*2544T>G)
c.2294T>G (p.Ile765Ser)
c.311T>G (p.Ile104Ser)
c.370T>G
c.1502T>G (p.Ile501Ser)
c.2630T>G (p.Ile877Ser)
c.2810T>G (p.Ile937Ser)
c.2477T>G (p.Ile826Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603594T=CA1737374601CFTRc.2720T= (p.Ile907=)
c.*2434T= (n.*2434T=)
c.2537T= (p.Ile846=)
c.*1020T= (n.*1020T=)
c.*2544T= (n.*2544T=)
c.2294T= (p.Ile765=)
c.311T= (p.Ile104=)
c.370T=
c.1502T= (p.Ile501=)
c.2630T= (p.Ile877=)
c.2810T= (p.Ile937=)
c.2477T= (p.Ile826=)
7g.117603595C>ACA457227933CFTRc.2721C>A (p.Ile907=)
c.*2435C>A (n.*2435C>A)
c.2538C>A (p.Ile846=)
c.*1021C>A (n.*1021C>A)
c.*2545C>A (n.*2545C>A)
c.2295C>A (p.Ile765=)
c.312C>A (p.Ile104=)
c.371C>A
c.1503C>A (p.Ile501=)
c.2631C>A (p.Ile877=)
c.2811C>A (p.Ile937=)
c.2478C>A (p.Ile826=)
7g.117603595C=CA1737374606CFTRc.2721C= (p.Ile907=)
c.*2435C= (n.*2435C=)
c.2538C= (p.Ile846=)
c.*1021C= (n.*1021C=)
c.*2545C= (n.*2545C=)
c.2295C= (p.Ile765=)
c.312C= (p.Ile104=)
c.371C=
c.1503C= (p.Ile501=)
c.2631C= (p.Ile877=)
c.2811C= (p.Ile937=)
c.2478C= (p.Ile826=)
7g.117603595C>GCA368986505CFTRc.2721C>G (p.Ile907Met)
c.*2435C>G (n.*2435C>G)
c.2538C>G (p.Ile846Met)
c.*1021C>G (n.*1021C>G)
c.*2545C>G (n.*2545C>G)
c.2295C>G (p.Ile765Met)
c.312C>G (p.Ile104Met)
c.371C>G
c.1503C>G (p.Ile501Met)
c.2631C>G (p.Ile877Met)
c.2811C>G (p.Ile937Met)
c.2478C>G (p.Ile826Met)
7g.117603595C>TCA457227934CFTRc.2721C>T (p.Ile907=)
c.*2435C>T (n.*2435C>T)
c.2538C>T (p.Ile846=)
c.*1021C>T (n.*1021C>T)
c.*2545C>T (n.*2545C>T)
c.2295C>T (p.Ile765=)
c.312C>T (p.Ile104=)
c.371C>T
c.1503C>T (p.Ile501=)
c.2631C>T (p.Ile877=)
c.2811C>T (p.Ile937=)
c.2478C>T (p.Ile826=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117603597_117603599delCA1139573579CFTRc.2723_2725del (p.Thr908del)
c.*2437_*2439del (n.*2437_*2439del)
c.2540_2542del (p.Thr847del)
c.*1023_*1025del (n.*1023_*1025del)
c.*2547_*2549del (n.*2547_*2549del)
c.2297_2299del (p.Thr766del)
c.314_316del (p.Thr105del)
c.373_375del
c.1505_1507del (p.Thr502del)
c.2633_2635del (p.Thr878del)
c.2813_2815del (p.Thr938del)
c.2480_2482del (p.Thr827del)
7g.117603596A>CCA368986506CFTRc.2722A>C (p.Thr908Pro)
c.*2436A>C (n.*2436A>C)
c.2539A>C (p.Thr847Pro)
c.*1022A>C (n.*1022A>C)
c.*2546A>C (n.*2546A>C)
c.2296A>C (p.Thr766Pro)
c.313A>C (p.Thr105Pro)
c.372A>C
c.1504A>C (p.Thr502Pro)
c.2632A>C (p.Thr878Pro)
c.2812A>C (p.Thr938Pro)
c.2479A>C (p.Thr827Pro)
7g.117603596A>GCA368986507CFTRc.2722A>G (p.Thr908Ala)
c.*2436A>G (n.*2436A>G)
c.2539A>G (p.Thr847Ala)
c.*1022A>G (n.*1022A>G)
c.*2546A>G (n.*2546A>G)
c.2296A>G (p.Thr766Ala)
c.313A>G (p.Thr105Ala)
c.372A>G
c.1504A>G (p.Thr502Ala)
c.2632A>G (p.Thr878Ala)
c.2812A>G (p.Thr938Ala)
c.2479A>G (p.Thr827Ala)
7g.117603596A>TCA368986508CFTRc.2722A>T (p.Thr908Ser)
c.*2436A>T (n.*2436A>T)
c.2539A>T (p.Thr847Ser)
c.*1022A>T (n.*1022A>T)
c.*2546A>T (n.*2546A>T)
c.2296A>T (p.Thr766Ser)
c.313A>T (p.Thr105Ser)
c.372A>T
c.1504A>T (p.Thr502Ser)
c.2632A>T (p.Thr878Ser)
c.2812A>T (p.Thr938Ser)
c.2479A>T (p.Thr827Ser)
7g.117603597C>ACA326898CFTRc.2723C>A (p.Thr908Asn)
c.*2437C>A (n.*2437C>A)
c.2540C>A (p.Thr847Asn)
c.*1023C>A (n.*1023C>A)
c.*2547C>A (n.*2547C>A)
c.2297C>A (p.Thr766Asn)
c.314C>A (p.Thr105Asn)
c.373C>A
c.1505C>A (p.Thr502Asn)
c.2633C>A (p.Thr878Asn)
c.2813C>A (p.Thr938Asn)
c.2480C>A (p.Thr827Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603597C=CA1737374616CFTRc.2723C= (p.Thr908=)
c.*2437C= (n.*2437C=)
c.2540C= (p.Thr847=)
c.*1023C= (n.*1023C=)
c.*2547C= (n.*2547C=)
c.2297C= (p.Thr766=)
c.314C= (p.Thr105=)
c.373C=
c.1505C= (p.Thr502=)
c.2633C= (p.Thr878=)
c.2813C= (p.Thr938=)
c.2480C= (p.Thr827=)
7g.117603597C>GCA368986509CFTRc.2723C>G (p.Thr908Ser)
c.*2437C>G (n.*2437C>G)
c.2540C>G (p.Thr847Ser)
c.*1023C>G (n.*1023C>G)
c.*2547C>G (n.*2547C>G)
c.2297C>G (p.Thr766Ser)
c.314C>G (p.Thr105Ser)
c.373C>G
c.1505C>G (p.Thr502Ser)
c.2633C>G (p.Thr878Ser)
c.2813C>G (p.Thr938Ser)
c.2480C>G (p.Thr827Ser)
 ClinVar dbSNP gnomAD v4
7g.117603597C>TCA368986510CFTRc.2723C>T (p.Thr908Ile)
c.*2437C>T (n.*2437C>T)
c.2540C>T (p.Thr847Ile)
c.*1023C>T (n.*1023C>T)
c.*2547C>T (n.*2547C>T)
c.2297C>T (p.Thr766Ile)
c.314C>T (p.Thr105Ile)
c.373C>T
c.1505C>T (p.Thr502Ile)
c.2633C>T (p.Thr878Ile)
c.2813C>T (p.Thr938Ile)
c.2480C>T (p.Thr827Ile)
7g.117603598C>ACA457227935CFTRc.2724C>A (p.Thr908=)
c.*2438C>A (n.*2438C>A)
c.2541C>A (p.Thr847=)
c.*1024C>A (n.*1024C>A)
c.*2548C>A (n.*2548C>A)
c.2298C>A (p.Thr766=)
c.315C>A (p.Thr105=)
c.374C>A
c.1506C>A (p.Thr502=)
c.2634C>A (p.Thr878=)
c.2814C>A (p.Thr938=)
c.2481C>A (p.Thr827=)
7g.117603598C>GCA457227936CFTRc.2724C>G (p.Thr908=)
c.*2438C>G (n.*2438C>G)
c.2541C>G (p.Thr847=)
c.*1024C>G (n.*1024C>G)
c.*2548C>G (n.*2548C>G)
c.2298C>G (p.Thr766=)
c.315C>G (p.Thr105=)
c.374C>G
c.1506C>G (p.Thr502=)
c.2634C>G (p.Thr878=)
c.2814C>G (p.Thr938=)
c.2481C>G (p.Thr827=)
7g.117603598C>TCA457227937CFTRc.2724C>T (p.Thr908=)
c.*2438C>T (n.*2438C>T)
c.2541C>T (p.Thr847=)
c.*1024C>T (n.*1024C>T)
c.*2548C>T (n.*2548C>T)
c.2298C>T (p.Thr766=)
c.315C>T (p.Thr105=)
c.374C>T
c.1506C>T (p.Thr502=)
c.2634C>T (p.Thr878=)
c.2814C>T (p.Thr938=)
c.2481C>T (p.Thr827=)
 ClinVar
7g.117603599A=CA1737374624CFTRc.2725A= (p.Ser909=)
c.*2439A= (n.*2439A=)
c.2542A= (p.Ser848=)
c.*1025A= (n.*1025A=)
c.*2549A= (n.*2549A=)
c.2299A= (p.Ser767=)
c.316A= (p.Ser106=)
c.375A=
c.1507A= (p.Ser503=)
c.2635A= (p.Ser879=)
c.2815A= (p.Ser939=)
c.2482A= (p.Ser828=)
7g.117603599A>CCA368986512CFTRc.2725A>C (p.Ser909Arg)
c.*2439A>C (n.*2439A>C)
c.2542A>C (p.Ser848Arg)
c.*1025A>C (n.*1025A>C)
c.*2549A>C (n.*2549A>C)
c.2299A>C (p.Ser767Arg)
c.316A>C (p.Ser106Arg)
c.375A>C
c.1507A>C (p.Ser503Arg)
c.2635A>C (p.Ser879Arg)
c.2815A>C (p.Ser939Arg)
c.2482A>C (p.Ser828Arg)
 COSMIC
7g.117603599A>GCA368986513CFTRc.2725A>G (p.Ser909Gly)
c.*2439A>G (n.*2439A>G)
c.2542A>G (p.Ser848Gly)
c.*1025A>G (n.*1025A>G)
c.*2549A>G (n.*2549A>G)
c.2299A>G (p.Ser767Gly)
c.316A>G (p.Ser106Gly)
c.375A>G
c.1507A>G (p.Ser503Gly)
c.2635A>G (p.Ser879Gly)
c.2815A>G (p.Ser939Gly)
c.2482A>G (p.Ser828Gly)
 ClinVar dbSNP gnomAD v4
7g.117603599A>TCA368986511CFTRc.2725A>T (p.Ser909Cys)
c.*2439A>T (n.*2439A>T)
c.2542A>T (p.Ser848Cys)
c.*1025A>T (n.*1025A>T)
c.*2549A>T (n.*2549A>T)
c.2299A>T (p.Ser767Cys)
c.316A>T (p.Ser106Cys)
c.375A>T
c.1507A>T (p.Ser503Cys)
c.2635A>T (p.Ser879Cys)
c.2815A>T (p.Ser939Cys)
c.2482A>T (p.Ser828Cys)
7g.117603600G>ACA368986515CFTRc.2726G>A (p.Ser909Asn)
c.*2440G>A (n.*2440G>A)
c.2543G>A (p.Ser848Asn)
c.*1026G>A (n.*1026G>A)
c.*2550G>A (n.*2550G>A)
c.2300G>A (p.Ser767Asn)
c.317G>A (p.Ser106Asn)
c.376G>A
c.1508G>A (p.Ser503Asn)
c.2636G>A (p.Ser879Asn)
c.2816G>A (p.Ser939Asn)
c.2483G>A (p.Ser828Asn)
7g.117603600G>CCA368986514CFTRc.2726G>C (p.Ser909Thr)
c.*2440G>C (n.*2440G>C)
c.2543G>C (p.Ser848Thr)
c.*1026G>C (n.*1026G>C)
c.*2550G>C (n.*2550G>C)
c.2300G>C (p.Ser767Thr)
c.317G>C (p.Ser106Thr)
c.376G>C
c.1508G>C (p.Ser503Thr)
c.2636G>C (p.Ser879Thr)
c.2816G>C (p.Ser939Thr)
c.2483G>C (p.Ser828Thr)
7g.117603600G=CA1737374629CFTRc.2726G= (p.Ser909=)
c.*2440G= (n.*2440G=)
c.2543G= (p.Ser848=)
c.*1026G= (n.*1026G=)
c.*2550G= (n.*2550G=)
c.2300G= (p.Ser767=)
c.317G= (p.Ser106=)
c.376G=
c.1508G= (p.Ser503=)
c.2636G= (p.Ser879=)
c.2816G= (p.Ser939=)
c.2483G= (p.Ser828=)
7g.117603600G>TCA164960034CFTRc.2726G>T (p.Ser909Ile)
c.*2440G>T (n.*2440G>T)
c.2543G>T (p.Ser848Ile)
c.*1026G>T (n.*1026G>T)
c.*2550G>T (n.*2550G>T)
c.2300G>T (p.Ser767Ile)
c.317G>T (p.Ser106Ile)
c.376G>T
c.1508G>T (p.Ser503Ile)
c.2636G>T (p.Ser879Ile)
c.2816G>T (p.Ser939Ile)
c.2483G>T (p.Ser828Ile)
 dbSNP gnomAD v3 gnomAD v4
7g.117603601C>ACA368986516CFTRc.2727C>A (p.Ser909Arg)
c.*2441C>A (n.*2441C>A)
c.2544C>A (p.Ser848Arg)
c.*1027C>A (n.*1027C>A)
c.*2551C>A (n.*2551C>A)
c.2301C>A (p.Ser767Arg)
c.318C>A (p.Ser106Arg)
c.377C>A
c.1509C>A (p.Ser503Arg)
c.2637C>A (p.Ser879Arg)
c.2817C>A (p.Ser939Arg)
c.2484C>A (p.Ser828Arg)
7g.117603601C>GCA368986517CFTRc.2727C>G (p.Ser909Arg)
c.*2441C>G (n.*2441C>G)
c.2544C>G (p.Ser848Arg)
c.*1027C>G (n.*1027C>G)
c.*2551C>G (n.*2551C>G)
c.2301C>G (p.Ser767Arg)
c.318C>G (p.Ser106Arg)
c.377C>G
c.1509C>G (p.Ser503Arg)
c.2637C>G (p.Ser879Arg)
c.2817C>G (p.Ser939Arg)
c.2484C>G (p.Ser828Arg)
7g.117603601C>TCA457227938CFTRc.2727C>T (p.Ser909=)
c.*2441C>T (n.*2441C>T)
c.2544C>T (p.Ser848=)
c.*1027C>T (n.*1027C>T)
c.*2551C>T (n.*2551C>T)
c.2301C>T (p.Ser767=)
c.318C>T (p.Ser106=)
c.377C>T
c.1509C>T (p.Ser503=)
c.2637C>T (p.Ser879=)
c.2817C>T (p.Ser939=)
c.2484C>T (p.Ser828=)
7g.117603602A>CCA368986518CFTRc.2728A>C (p.Thr910Pro)
c.*2442A>C (n.*2442A>C)
c.2545A>C (p.Thr849Pro)
c.*1028A>C (n.*1028A>C)
c.*2552A>C (n.*2552A>C)
c.2302A>C (p.Thr768Pro)
c.319A>C (p.Thr107Pro)
c.378A>C
c.1510A>C (p.Thr504Pro)
c.2638A>C (p.Thr880Pro)
c.2818A>C (p.Thr940Pro)
c.2485A>C (p.Thr829Pro)
7g.117603602A>GCA368986519CFTRc.2728A>G (p.Thr910Ala)
c.*2442A>G (n.*2442A>G)
c.2545A>G (p.Thr849Ala)
c.*1028A>G (n.*1028A>G)
c.*2552A>G (n.*2552A>G)
c.2302A>G (p.Thr768Ala)
c.319A>G (p.Thr107Ala)
c.378A>G
c.1510A>G (p.Thr504Ala)
c.2638A>G (p.Thr880Ala)
c.2818A>G (p.Thr940Ala)
c.2485A>G (p.Thr829Ala)
7g.117603602A>TCA368986520CFTRc.2728A>T (p.Thr910Ser)
c.*2442A>T (n.*2442A>T)
c.2545A>T (p.Thr849Ser)
c.*1028A>T (n.*1028A>T)
c.*2552A>T (n.*2552A>T)
c.2302A>T (p.Thr768Ser)
c.319A>T (p.Thr107Ser)
c.378A>T
c.1510A>T (p.Thr504Ser)
c.2638A>T (p.Thr880Ser)
c.2818A>T (p.Thr940Ser)
c.2485A>T (p.Thr829Ser)
7g.117603603C>ACA368986521CFTRc.2729C>A (p.Thr910Asn)
c.*2443C>A (n.*2443C>A)
c.2546C>A (p.Thr849Asn)
c.*1029C>A (n.*1029C>A)
c.*2553C>A (n.*2553C>A)
c.2303C>A (p.Thr768Asn)
c.320C>A (p.Thr107Asn)
c.379C>A
c.1511C>A (p.Thr504Asn)
c.2639C>A (p.Thr880Asn)
c.2819C>A (p.Thr940Asn)
c.2486C>A (p.Thr829Asn)
7g.117603603C=CA1737374634CFTRc.2729C= (p.Thr910=)
c.*2443C= (n.*2443C=)
c.2546C= (p.Thr849=)
c.*1029C= (n.*1029C=)
c.*2553C= (n.*2553C=)
c.2303C= (p.Thr768=)
c.320C= (p.Thr107=)
c.379C=
c.1511C= (p.Thr504=)
c.2639C= (p.Thr880=)
c.2819C= (p.Thr940=)
c.2486C= (p.Thr829=)
7g.117603603C>GCA368986522CFTRc.2729C>G (p.Thr910Ser)
c.*2443C>G (n.*2443C>G)
c.2546C>G (p.Thr849Ser)
c.*1029C>G (n.*1029C>G)
c.*2553C>G (n.*2553C>G)
c.2303C>G (p.Thr768Ser)
c.320C>G (p.Thr107Ser)
c.379C>G
c.1511C>G (p.Thr504Ser)
c.2639C>G (p.Thr880Ser)
c.2819C>G (p.Thr940Ser)
c.2486C>G (p.Thr829Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603603C>TCA368986523CFTRc.2729C>T (p.Thr910Ile)
c.*2443C>T (n.*2443C>T)
c.2546C>T (p.Thr849Ile)
c.*1029C>T (n.*1029C>T)
c.*2553C>T (n.*2553C>T)
c.2303C>T (p.Thr768Ile)
c.320C>T (p.Thr107Ile)
c.379C>T
c.1511C>T (p.Thr504Ile)
c.2639C>T (p.Thr880Ile)
c.2819C>T (p.Thr940Ile)
c.2486C>T (p.Thr829Ile)
7g.117603604C>ACA457227941CFTRc.2730C>A (p.Thr910=)
c.*2444C>A (n.*2444C>A)
c.2547C>A (p.Thr849=)
c.*1030C>A (n.*1030C>A)
c.*2554C>A (n.*2554C>A)
c.2304C>A (p.Thr768=)
c.321C>A (p.Thr107=)
c.380C>A
c.1512C>A (p.Thr504=)
c.2640C>A (p.Thr880=)
c.2820C>A (p.Thr940=)
c.2487C>A (p.Thr829=)
 ClinVar dbSNP
7g.117603604C>GCA457227940CFTRc.2730C>G (p.Thr910=)
c.*2444C>G (n.*2444C>G)
c.2547C>G (p.Thr849=)
c.*1030C>G (n.*1030C>G)
c.*2554C>G (n.*2554C>G)
c.2304C>G (p.Thr768=)
c.321C>G (p.Thr107=)
c.380C>G
c.1512C>G (p.Thr504=)
c.2640C>G (p.Thr880=)
c.2820C>G (p.Thr940=)
c.2487C>G (p.Thr829=)
 ClinVar
7g.117603604C>TCA457227939CFTRc.2730C>T (p.Thr910=)
c.*2444C>T (n.*2444C>T)
c.2547C>T (p.Thr849=)
c.*1030C>T (n.*1030C>T)
c.*2554C>T (n.*2554C>T)
c.2304C>T (p.Thr768=)
c.321C>T (p.Thr107=)
c.380C>T
c.1512C>T (p.Thr504=)
c.2640C>T (p.Thr880=)
c.2820C>T (p.Thr940=)
c.2487C>T (p.Thr829=)
 ClinVar
7g.117603605A=CA1737374638CFTRc.2731A= (p.Ser911=)
c.*2445A= (n.*2445A=)
c.2548A= (p.Ser850=)
c.*1031A= (n.*1031A=)
c.*2555A= (n.*2555A=)
c.2305A= (p.Ser769=)
c.322A= (p.Ser108=)
c.381A=
c.1513A= (p.Ser505=)
c.2641A= (p.Ser881=)
c.2821A= (p.Ser941=)
c.2488A= (p.Ser830=)
7g.117603605A>CCA368986524CFTRc.2731A>C (p.Ser911Arg)
c.*2445A>C (n.*2445A>C)
c.2548A>C (p.Ser850Arg)
c.*1031A>C (n.*1031A>C)
c.*2555A>C (n.*2555A>C)
c.2305A>C (p.Ser769Arg)
c.322A>C (p.Ser108Arg)
c.381A>C
c.1513A>C (p.Ser505Arg)
c.2641A>C (p.Ser881Arg)
c.2821A>C (p.Ser941Arg)
c.2488A>C (p.Ser830Arg)
7g.117603605A>GCA368986525CFTRc.2731A>G (p.Ser911Gly)
c.*2445A>G (n.*2445A>G)
c.2548A>G (p.Ser850Gly)
c.*1031A>G (n.*1031A>G)
c.*2555A>G (n.*2555A>G)
c.2305A>G (p.Ser769Gly)
c.322A>G (p.Ser108Gly)
c.381A>G
c.1513A>G (p.Ser505Gly)
c.2641A>G (p.Ser881Gly)
c.2821A>G (p.Ser941Gly)
c.2488A>G (p.Ser830Gly)
 dbSNP
7g.117603605A>TCA368986526CFTRc.2731A>T (p.Ser911Cys)
c.*2445A>T (n.*2445A>T)
c.2548A>T (p.Ser850Cys)
c.*1031A>T (n.*1031A>T)
c.*2555A>T (n.*2555A>T)
c.2305A>T (p.Ser769Cys)
c.322A>T (p.Ser108Cys)
c.381A>T
c.1513A>T (p.Ser505Cys)
c.2641A>T (p.Ser881Cys)
c.2821A>T (p.Ser941Cys)
c.2488A>T (p.Ser830Cys)
7g.117603606G>ACA4451279CFTRc.2732G>A (p.Ser911Asn)
c.*2446G>A (n.*2446G>A)
c.2549G>A (p.Ser850Asn)
c.*1032G>A (n.*1032G>A)
c.*2556G>A (n.*2556G>A)
c.2306G>A (p.Ser769Asn)
c.323G>A (p.Ser108Asn)
c.382G>A
c.1514G>A (p.Ser505Asn)
c.2642G>A (p.Ser881Asn)
c.2822G>A (p.Ser941Asn)
c.2489G>A (p.Ser830Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603606G>CCA368986528CFTRc.2732G>C (p.Ser911Thr)
c.*2446G>C (n.*2446G>C)
c.2549G>C (p.Ser850Thr)
c.*1032G>C (n.*1032G>C)
c.*2556G>C (n.*2556G>C)
c.2306G>C (p.Ser769Thr)
c.323G>C (p.Ser108Thr)
c.382G>C
c.1514G>C (p.Ser505Thr)
c.2642G>C (p.Ser881Thr)
c.2822G>C (p.Ser941Thr)
c.2489G>C (p.Ser830Thr)
 ClinVar dbSNP
7g.117603606G=CA1737374645CFTRc.2732G= (p.Ser911=)
c.*2446G= (n.*2446G=)
c.2549G= (p.Ser850=)
c.*1032G= (n.*1032G=)
c.*2556G= (n.*2556G=)
c.2306G= (p.Ser769=)
c.323G= (p.Ser108=)
c.382G=
c.1514G= (p.Ser505=)
c.2642G= (p.Ser881=)
c.2822G= (p.Ser941=)
c.2489G= (p.Ser830=)
7g.117603606G>TCA368986527CFTRc.2732G>T (p.Ser911Ile)
c.*2446G>T (n.*2446G>T)
c.2549G>T (p.Ser850Ile)
c.*1032G>T (n.*1032G>T)
c.*2556G>T (n.*2556G>T)
c.2306G>T (p.Ser769Ile)
c.323G>T (p.Ser108Ile)
c.382G>T
c.1514G>T (p.Ser505Ile)
c.2642G>T (p.Ser881Ile)
c.2822G>T (p.Ser941Ile)
c.2489G>T (p.Ser830Ile)
7g.117603607T>ACA368986529CFTRc.2733T>A (p.Ser911Arg)
c.*2447T>A (n.*2447T>A)
c.2550T>A (p.Ser850Arg)
c.*1033T>A (n.*1033T>A)
c.*2557T>A (n.*2557T>A)
c.2307T>A (p.Ser769Arg)
c.324T>A (p.Ser108Arg)
c.383T>A
c.1515T>A (p.Ser505Arg)
c.2643T>A (p.Ser881Arg)
c.2823T>A (p.Ser941Arg)
c.2490T>A (p.Ser830Arg)
7g.117603607T>CCA457227942CFTRc.2733T>C (p.Ser911=)
c.*2447T>C (n.*2447T>C)
c.2550T>C (p.Ser850=)
c.*1033T>C (n.*1033T>C)
c.*2557T>C (n.*2557T>C)
c.2307T>C (p.Ser769=)
c.324T>C (p.Ser108=)
c.383T>C
c.1515T>C (p.Ser505=)
c.2643T>C (p.Ser881=)
c.2823T>C (p.Ser941=)
c.2490T>C (p.Ser830=)
 ClinVar
7g.117603607T>GCA368986530CFTRc.2733T>G (p.Ser911Arg)
c.*2447T>G (n.*2447T>G)
c.2550T>G (p.Ser850Arg)
c.*1033T>G (n.*1033T>G)
c.*2557T>G (n.*2557T>G)
c.2307T>G (p.Ser769Arg)
c.324T>G (p.Ser108Arg)
c.383T>G
c.1515T>G (p.Ser505Arg)
c.2643T>G (p.Ser881Arg)
c.2823T>G (p.Ser941Arg)
c.2490T>G (p.Ser830Arg)
 ClinVar dbSNP
7g.117603607T=CA1737374652CFTRc.2733T= (p.Ser911=)
c.*2447T= (n.*2447T=)
c.2550T= (p.Ser850=)
c.*1033T= (n.*1033T=)
c.*2557T= (n.*2557T=)
c.2307T= (p.Ser769=)
c.324T= (p.Ser108=)
c.383T=
c.1515T= (p.Ser505=)
c.2643T= (p.Ser881=)
c.2823T= (p.Ser941=)
c.2490T= (p.Ser830=)
7g.117603608T>ACA368986531CFTRc.2734T>A (p.Ser912Thr)
c.*2448T>A (n.*2448T>A)
c.2551T>A (p.Ser851Thr)
c.*1034T>A (n.*1034T>A)
c.*2558T>A (n.*2558T>A)
c.2308T>A (p.Ser770Thr)
c.325T>A (p.Ser109Thr)
c.384T>A
c.1516T>A (p.Ser506Thr)
c.2644T>A (p.Ser882Thr)
c.2824T>A (p.Ser942Thr)
c.2491T>A (p.Ser831Thr)
 ClinVar dbSNP
7g.117603608T>CCA368986532CFTRc.2734T>C (p.Ser912Pro)
c.*2448T>C (n.*2448T>C)
c.2551T>C (p.Ser851Pro)
c.*1034T>C (n.*1034T>C)
c.*2558T>C (n.*2558T>C)
c.2308T>C (p.Ser770Pro)
c.325T>C (p.Ser109Pro)
c.384T>C
c.1516T>C (p.Ser506Pro)
c.2644T>C (p.Ser882Pro)
c.2824T>C (p.Ser942Pro)
c.2491T>C (p.Ser831Pro)
7g.117603608T>GCA368986533CFTRc.2734T>G (p.Ser912Ala)
c.*2448T>G (n.*2448T>G)
c.2551T>G (p.Ser851Ala)
c.*1034T>G (n.*1034T>G)
c.*2558T>G (n.*2558T>G)
c.2308T>G (p.Ser770Ala)
c.325T>G (p.Ser109Ala)
c.384T>G
c.1516T>G (p.Ser506Ala)
c.2644T>G (p.Ser882Ala)
c.2824T>G (p.Ser942Ala)
c.2491T>G (p.Ser831Ala)
7g.117603608T=CA1737374663CFTRc.2734T= (p.Ser912=)
c.*2448T= (n.*2448T=)
c.2551T= (p.Ser851=)
c.*1034T= (n.*1034T=)
c.*2558T= (n.*2558T=)
c.2308T= (p.Ser770=)
c.325T= (p.Ser109=)
c.384T=
c.1516T= (p.Ser506=)
c.2644T= (p.Ser882=)
c.2824T= (p.Ser942=)
c.2491T= (p.Ser831=)
7g.117603609C>ACA326900CFTRc.2735C>A (p.Ser912Ter)
c.*2449C>A (n.*2449C>A)
c.2552C>A (p.Ser851Ter)
c.*1035C>A (n.*1035C>A)
c.*2559C>A (n.*2559C>A)
c.2309C>A (p.Ser770Ter)
c.326C>A (p.Ser109Ter)
c.385C>A
c.1517C>A (p.Ser506Ter)
c.2645C>A (p.Ser882Ter)
c.2825C>A (p.Ser942Ter)
c.2492C>A (p.Ser831Ter)
 ClinVar dbSNP
7g.117603609C=CA1737374679CFTRc.2735C= (p.Ser912=)
c.*2449C= (n.*2449C=)
c.2552C= (p.Ser851=)
c.*1035C= (n.*1035C=)
c.*2559C= (n.*2559C=)
c.2309C= (p.Ser770=)
c.326C= (p.Ser109=)
c.385C=
c.1517C= (p.Ser506=)
c.2645C= (p.Ser882=)
c.2825C= (p.Ser942=)
c.2492C= (p.Ser831=)
7g.117603609C>GCA368986536CFTRc.2735C>G (p.Ser912Trp)
c.*2449C>G (n.*2449C>G)
c.2552C>G (p.Ser851Trp)
c.*1035C>G (n.*1035C>G)
c.*2559C>G (n.*2559C>G)
c.2309C>G (p.Ser770Trp)
c.326C>G (p.Ser109Trp)
c.385C>G
c.1517C>G (p.Ser506Trp)
c.2645C>G (p.Ser882Trp)
c.2825C>G (p.Ser942Trp)
c.2492C>G (p.Ser831Trp)
 gnomAD v4
7g.117603609C>TCA325592CFTRc.2735C>T (p.Ser912Leu)
c.*2449C>T (n.*2449C>T)
c.2552C>T (p.Ser851Leu)
c.*1035C>T (n.*1035C>T)
c.*2559C>T (n.*2559C>T)
c.2309C>T (p.Ser770Leu)
c.326C>T (p.Ser109Leu)
c.385C>T
c.1517C>T (p.Ser506Leu)
c.2645C>T (p.Ser882Leu)
c.2825C>T (p.Ser942Leu)
c.2492C>T (p.Ser831Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.[117603609C>T;117642451G>T]CA357860CFTRc.[2735C>T;3531G>T] (p.[Ser912Leu;Gly1177=])
c.[*2449C>T;*3445G>T] (n.[*2449C>T;*3445G>T])
c.[2552C>T;3548G>T] (p.[Ser851Leu;Gly1183Val])
c.[2735C>T;3731G>T] (p.[Ser912Leu;Gly1244Val])
c.[2735C>T;*384G>T] ([p.Ser912Leu;n.*384G>T])
c.[2735C>T;*392G>T] ([p.Ser912Leu;n.*392G>T])
c.[*1035C>T;*2106G>T] (n.[*1035C>T;*2106G>T])
c.[2735C>T;3725G>T] (p.[Ser912Leu;Gly1242Val])
c.[*2559C>T;*3555G>T] (n.[*2559C>T;*3555G>T])
c.[2309C>T;3305G>T] (p.[Ser770Leu;Gly1102Val])
c.[326C>T;1518G>T] ([p.Ser109Leu;n.1518G>T])
c.[385C>T;1181G>T]
c.[2645C>T;3641G>T] (p.[Ser882Leu;Gly1214Val])
c.[2825C>T;3821G>T] (p.[Ser942Leu;Gly1274Val])
c.[2492C>T;3488G>T] (p.[Ser831Leu;Gly1163Val])
 ClinVar
7g.117603610G>ACA240842CFTRc.2736G>A (p.Ser912=)
c.*2450G>A (n.*2450G>A)
c.2553G>A (p.Ser851=)
c.*1036G>A (n.*1036G>A)
c.*2560G>A (n.*2560G>A)
c.2310G>A (p.Ser770=)
c.327G>A (p.Ser109=)
c.386G>A
c.1518G>A (p.Ser506=)
c.2646G>A (p.Ser882=)
c.2826G>A (p.Ser942=)
c.2493G>A (p.Ser831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603610G>CCA4451280CFTRc.2736G>C (p.Ser912=)
c.*2450G>C (n.*2450G>C)
c.2553G>C (p.Ser851=)
c.*1036G>C (n.*1036G>C)
c.*2560G>C (n.*2560G>C)
c.2310G>C (p.Ser770=)
c.327G>C (p.Ser109=)
c.386G>C
c.1518G>C (p.Ser506=)
c.2646G>C (p.Ser882=)
c.2826G>C (p.Ser942=)
c.2493G>C (p.Ser831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603610G=CA1737374704CFTRc.2736G= (p.Ser912=)
c.*2450G= (n.*2450G=)
c.2553G= (p.Ser851=)
c.*1036G= (n.*1036G=)
c.*2560G= (n.*2560G=)
c.2310G= (p.Ser770=)
c.327G= (p.Ser109=)
c.386G=
c.1518G= (p.Ser506=)
c.2646G= (p.Ser882=)
c.2826G= (p.Ser942=)
c.2493G= (p.Ser831=)
7g.117603610G>TCA4451281CFTRc.2736G>T (p.Ser912=)
c.*2450G>T (n.*2450G>T)
c.2553G>T (p.Ser851=)
c.*1036G>T (n.*1036G>T)
c.*2560G>T (n.*2560G>T)
c.2310G>T (p.Ser770=)
c.327G>T (p.Ser109=)
c.386G>T
c.1518G>T (p.Ser506=)
c.2646G>T (p.Ser882=)
c.2826G>T (p.Ser942=)
c.2493G>T (p.Ser831=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603610dupCA326902CFTRc.2736dup (p.Tyr913ValfsTer?)
c.*2450dup (n.*2450dup)
c.2553dup (p.Tyr852ValfsTer?)
c.*1036dup (n.*1036dup)
c.*2560dup (n.*2560dup)
c.2310dup (p.Tyr771ValfsTer?)
c.327dup (p.Tyr110ValfsTer?)
c.386dup
c.1518dup (p.Tyr507ValfsTer?)
c.2646dup (p.Tyr883ValfsTer?)
c.2826dup (p.Tyr943ValfsTer?)
c.2493dup (p.Tyr832ValfsTer?)
 dbSNP
7g.117603611T>ACA368986545CFTRc.2737T>A (p.Tyr913Asn)
c.*2451T>A (n.*2451T>A)
c.2554T>A (p.Tyr852Asn)
c.*1037T>A (n.*1037T>A)
c.*2561T>A (n.*2561T>A)
c.2311T>A (p.Tyr771Asn)
c.328T>A (p.Tyr110Asn)
c.387T>A
c.1519T>A (p.Tyr507Asn)
c.2647T>A (p.Tyr883Asn)
c.2827T>A (p.Tyr943Asn)
c.2494T>A (p.Tyr832Asn)
7g.117603611T>CCA368986548CFTRc.2737T>C (p.Tyr913His)
c.*2451T>C (n.*2451T>C)
c.2554T>C (p.Tyr852His)
c.*1037T>C (n.*1037T>C)
c.*2561T>C (n.*2561T>C)
c.2311T>C (p.Tyr771His)
c.328T>C (p.Tyr110His)
c.387T>C
c.1519T>C (p.Tyr507His)
c.2647T>C (p.Tyr883His)
c.2827T>C (p.Tyr943His)
c.2494T>C (p.Tyr832His)
7g.117603611T>GCA368986544CFTRc.2737T>G (p.Tyr913Asp)
c.*2451T>G (n.*2451T>G)
c.2554T>G (p.Tyr852Asp)
c.*1037T>G (n.*1037T>G)
c.*2561T>G (n.*2561T>G)
c.2311T>G (p.Tyr771Asp)
c.328T>G (p.Tyr110Asp)
c.387T>G
c.1519T>G (p.Tyr507Asp)
c.2647T>G (p.Tyr883Asp)
c.2827T>G (p.Tyr943Asp)
c.2494T>G (p.Tyr832Asp)
7g.117603611T=CA1737374711CFTRc.2737T= (p.Tyr913=)
c.*2451T= (n.*2451T=)
c.2554T= (p.Tyr852=)
c.*1037T= (n.*1037T=)
c.*2561T= (n.*2561T=)
c.2311T= (p.Tyr771=)
c.328T= (p.Tyr110=)
c.387T=
c.1519T= (p.Tyr507=)
c.2647T= (p.Tyr883=)
c.2827T= (p.Tyr943=)
c.2494T= (p.Tyr832=)
7g.117603611_117603612insGCA325544CFTRc.2737_2738insG (p.Tyr913Ter)
c.*2451_*2452insG (n.*2451_*2452insG)
c.2554_2555insG (p.Tyr852Ter)
c.*1037_*1038insG (n.*1037_*1038insG)
c.*2561_*2562insG (n.*2561_*2562insG)
c.2311_2312insG (p.Tyr771Ter)
c.328_329insG (p.Tyr110Ter)
c.387_388insG
c.1519_1520insG (p.Tyr507Ter)
c.2647_2648insG (p.Tyr883Ter)
c.2827_2828insG (p.Tyr943Ter)
c.2494_2495insG (p.Tyr832Ter)
 ClinVar dbSNP
7g.117603612A=CA1737374718CFTRc.2738A= (p.Tyr913=)
c.*2452A= (n.*2452A=)
c.2555A= (p.Tyr852=)
c.*1038A= (n.*1038A=)
c.*2562A= (n.*2562A=)
c.2312A= (p.Tyr771=)
c.329A= (p.Tyr110=)
c.388A=
c.1520A= (p.Tyr507=)
c.2648A= (p.Tyr883=)
c.2828A= (p.Tyr943=)
c.2495A= (p.Tyr832=)
7g.117603612A>CCA368986553CFTRc.2738A>C (p.Tyr913Ser)
c.*2452A>C (n.*2452A>C)
c.2555A>C (p.Tyr852Ser)
c.*1038A>C (n.*1038A>C)
c.*2562A>C (n.*2562A>C)
c.2312A>C (p.Tyr771Ser)
c.329A>C (p.Tyr110Ser)
c.388A>C
c.1520A>C (p.Tyr507Ser)
c.2648A>C (p.Tyr883Ser)
c.2828A>C (p.Tyr943Ser)
c.2495A>C (p.Tyr832Ser)
7g.117603612A>GCA325529CFTRc.2738A>G (p.Tyr913Cys)
c.*2452A>G (n.*2452A>G)
c.2555A>G (p.Tyr852Cys)
c.*1038A>G (n.*1038A>G)
c.*2562A>G (n.*2562A>G)
c.2312A>G (p.Tyr771Cys)
c.329A>G (p.Tyr110Cys)
c.388A>G
c.1520A>G (p.Tyr507Cys)
c.2648A>G (p.Tyr883Cys)
c.2828A>G (p.Tyr943Cys)
c.2495A>G (p.Tyr832Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603612A>TCA368986564CFTRc.2738A>T (p.Tyr913Phe)
c.*2452A>T (n.*2452A>T)
c.2555A>T (p.Tyr852Phe)
c.*1038A>T (n.*1038A>T)
c.*2562A>T (n.*2562A>T)
c.2312A>T (p.Tyr771Phe)
c.329A>T (p.Tyr110Phe)
c.388A>T
c.1520A>T (p.Tyr507Phe)
c.2648A>T (p.Tyr883Phe)
c.2828A>T (p.Tyr943Phe)
c.2495A>T (p.Tyr832Phe)
7g.117603613T>ACA326903CFTRc.2739T>A (p.Tyr913Ter)
c.*2453T>A (n.*2453T>A)
c.2556T>A (p.Tyr852Ter)
c.*1039T>A (n.*1039T>A)
c.*2563T>A (n.*2563T>A)
c.2313T>A (p.Tyr771Ter)
c.330T>A (p.Tyr110Ter)
c.389T>A
c.1521T>A (p.Tyr507Ter)
c.2649T>A (p.Tyr883Ter)
c.2829T>A (p.Tyr943Ter)
c.2496T>A (p.Tyr832Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603613T>CCA457227943CFTRc.2739T>C (p.Tyr913=)
c.*2453T>C (n.*2453T>C)
c.2556T>C (p.Tyr852=)
c.*1039T>C (n.*1039T>C)
c.*2563T>C (n.*2563T>C)
c.2313T>C (p.Tyr771=)
c.330T>C (p.Tyr110=)
c.389T>C
c.1521T>C (p.Tyr507=)
c.2649T>C (p.Tyr883=)
c.2829T>C (p.Tyr943=)
c.2496T>C (p.Tyr832=)
 ClinVar dbSNP
7g.117603613T>GCA368986574CFTRc.2739T>G (p.Tyr913Ter)
c.*2453T>G (n.*2453T>G)
c.2556T>G (p.Tyr852Ter)
c.*1039T>G (n.*1039T>G)
c.*2563T>G (n.*2563T>G)
c.2313T>G (p.Tyr771Ter)
c.330T>G (p.Tyr110Ter)
c.389T>G
c.1521T>G (p.Tyr507Ter)
c.2649T>G (p.Tyr883Ter)
c.2829T>G (p.Tyr943Ter)
c.2496T>G (p.Tyr832Ter)
 ClinVar
7g.117603613T=CA1737374723CFTRc.2739T= (p.Tyr913=)
c.*2453T= (n.*2453T=)
c.2556T= (p.Tyr852=)
c.*1039T= (n.*1039T=)
c.*2563T= (n.*2563T=)
c.2313T= (p.Tyr771=)
c.330T= (p.Tyr110=)
c.389T=
c.1521T= (p.Tyr507=)
c.2649T= (p.Tyr883=)
c.2829T= (p.Tyr943=)
c.2496T= (p.Tyr832=)
7g.117603614T>ACA368986577CFTRc.2740T>A (p.Tyr914Asn)
c.*2454T>A (n.*2454T>A)
c.2557T>A (p.Tyr853Asn)
c.*1040T>A (n.*1040T>A)
c.*2564T>A (n.*2564T>A)
c.2314T>A (p.Tyr772Asn)
c.331T>A (p.Tyr111Asn)
c.390T>A
c.1522T>A (p.Tyr508Asn)
c.2650T>A (p.Tyr884Asn)
c.2830T>A (p.Tyr944Asn)
c.2497T>A (p.Tyr833Asn)
7g.117603614T>CCA368986579CFTRc.2740T>C (p.Tyr914His)
c.*2454T>C (n.*2454T>C)
c.2557T>C (p.Tyr853His)
c.*1040T>C (n.*1040T>C)
c.*2564T>C (n.*2564T>C)
c.2314T>C (p.Tyr772His)
c.331T>C (p.Tyr111His)
c.390T>C
c.1522T>C (p.Tyr508His)
c.2650T>C (p.Tyr884His)
c.2830T>C (p.Tyr944His)
c.2497T>C (p.Tyr833His)
7g.117603614T>GCA368986582CFTRc.2740T>G (p.Tyr914Asp)
c.*2454T>G (n.*2454T>G)
c.2557T>G (p.Tyr853Asp)
c.*1040T>G (n.*1040T>G)
c.*2564T>G (n.*2564T>G)
c.2314T>G (p.Tyr772Asp)
c.331T>G (p.Tyr111Asp)
c.390T>G
c.1522T>G (p.Tyr508Asp)
c.2650T>G (p.Tyr884Asp)
c.2830T>G (p.Tyr944Asp)
c.2497T>G (p.Tyr833Asp)
7g.117603615A>CCA368986584CFTRc.2741A>C (p.Tyr914Ser)
c.*2455A>C (n.*2455A>C)
c.2558A>C (p.Tyr853Ser)
c.*1041A>C (n.*1041A>C)
c.*2565A>C (n.*2565A>C)
c.2315A>C (p.Tyr772Ser)
c.332A>C (p.Tyr111Ser)
c.391A>C
c.1523A>C (p.Tyr508Ser)
c.2651A>C (p.Tyr884Ser)
c.2831A>C (p.Tyr944Ser)
c.2498A>C (p.Tyr833Ser)
7g.117603615A>GCA368986585CFTRc.2741A>G (p.Tyr914Cys)
c.*2455A>G (n.*2455A>G)
c.2558A>G (p.Tyr853Cys)
c.*1041A>G (n.*1041A>G)
c.*2565A>G (n.*2565A>G)
c.2315A>G (p.Tyr772Cys)
c.332A>G (p.Tyr111Cys)
c.391A>G
c.1523A>G (p.Tyr508Cys)
c.2651A>G (p.Tyr884Cys)
c.2831A>G (p.Tyr944Cys)
c.2498A>G (p.Tyr833Cys)
7g.117603615A>TCA368986588CFTRc.2741A>T (p.Tyr914Phe)
c.*2455A>T (n.*2455A>T)
c.2558A>T (p.Tyr853Phe)
c.*1041A>T (n.*1041A>T)
c.*2565A>T (n.*2565A>T)
c.2315A>T (p.Tyr772Phe)
c.332A>T (p.Tyr111Phe)
c.391A>T
c.1523A>T (p.Tyr508Phe)
c.2651A>T (p.Tyr884Phe)
c.2831A>T (p.Tyr944Phe)
c.2498A>T (p.Tyr833Phe)
7g.117603616T>ACA368986596CFTRc.2742T>A (p.Tyr914Ter)
c.*2456T>A (n.*2456T>A)
c.2559T>A (p.Tyr853Ter)
c.*1042T>A (n.*1042T>A)
c.*2566T>A (n.*2566T>A)
c.2316T>A (p.Tyr772Ter)
c.333T>A (p.Tyr111Ter)
c.392T>A
c.1524T>A (p.Tyr508Ter)
c.2652T>A (p.Tyr884Ter)
c.2832T>A (p.Tyr944Ter)
c.2499T>A (p.Tyr833Ter)
7g.117603616T>CCA164960091CFTRc.2742T>C (p.Tyr914=)
c.*2456T>C (n.*2456T>C)
c.2559T>C (p.Tyr853=)
c.*1042T>C (n.*1042T>C)
c.*2566T>C (n.*2566T>C)
c.2316T>C (p.Tyr772=)
c.333T>C (p.Tyr111=)
c.392T>C
c.1524T>C (p.Tyr508=)
c.2652T>C (p.Tyr884=)
c.2832T>C (p.Tyr944=)
c.2499T>C (p.Tyr833=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603616T>GCA368986592CFTRc.2742T>G (p.Tyr914Ter)
c.*2456T>G (n.*2456T>G)
c.2559T>G (p.Tyr853Ter)
c.*1042T>G (n.*1042T>G)
c.*2566T>G (n.*2566T>G)
c.2316T>G (p.Tyr772Ter)
c.333T>G (p.Tyr111Ter)
c.392T>G
c.1524T>G (p.Tyr508Ter)
c.2652T>G (p.Tyr884Ter)
c.2832T>G (p.Tyr944Ter)
c.2499T>G (p.Tyr833Ter)
 ClinVar
7g.117603616T=CA1737374735CFTRc.2742T= (p.Tyr914=)
c.*2456T= (n.*2456T=)
c.2559T= (p.Tyr853=)
c.*1042T= (n.*1042T=)
c.*2566T= (n.*2566T=)
c.2316T= (p.Tyr772=)
c.333T= (p.Tyr111=)
c.392T=
c.1524T= (p.Tyr508=)
c.2652T= (p.Tyr884=)
c.2832T= (p.Tyr944=)
c.2499T= (p.Tyr833=)
7g.117603617G>ACA368986600CFTRc.2743G>A (p.Val915Met)
c.*2457G>A (n.*2457G>A)
c.2560G>A (p.Val854Met)
c.*1043G>A (n.*1043G>A)
c.*2567G>A (n.*2567G>A)
c.2317G>A (p.Val773Met)
c.334G>A (p.Val112Met)
c.393G>A
c.1525G>A (p.Val509Met)
c.2653G>A (p.Val885Met)
c.2833G>A (p.Val945Met)
c.2500G>A (p.Val834Met)
7g.117603617G>CCA4451282CFTRc.2743G>C (p.Val915Leu)
c.*2457G>C (n.*2457G>C)
c.2560G>C (p.Val854Leu)
c.*1043G>C (n.*1043G>C)
c.*2567G>C (n.*2567G>C)
c.2317G>C (p.Val773Leu)
c.334G>C (p.Val112Leu)
c.393G>C
c.1525G>C (p.Val509Leu)
c.2653G>C (p.Val885Leu)
c.2833G>C (p.Val945Leu)
c.2500G>C (p.Val834Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603617G=CA1737374746CFTRc.2743G= (p.Val915=)
c.*2457G= (n.*2457G=)
c.2560G= (p.Val854=)
c.*1043G= (n.*1043G=)
c.*2567G= (n.*2567G=)
c.2317G= (p.Val773=)
c.334G= (p.Val112=)
c.393G=
c.1525G= (p.Val509=)
c.2653G= (p.Val885=)
c.2833G= (p.Val945=)
c.2500G= (p.Val834=)
7g.117603617G>TCA368986603CFTRc.2743G>T (p.Val915Leu)
c.*2457G>T (n.*2457G>T)
c.2560G>T (p.Val854Leu)
c.*1043G>T (n.*1043G>T)
c.*2567G>T (n.*2567G>T)
c.2317G>T (p.Val773Leu)
c.334G>T (p.Val112Leu)
c.393G>T
c.1525G>T (p.Val509Leu)
c.2653G>T (p.Val885Leu)
c.2833G>T (p.Val945Leu)
c.2500G>T (p.Val834Leu)
7g.117603617_117603619delinsACA2580076338CFTRc.2743_2745delinsA (p.Val915IlefsTer?)
c.*2457_*2459delinsA (n.*2457_*2459delinsA)
c.2560_2562delinsA (p.Val854IlefsTer?)
c.*1043_*1045delinsA (n.*1043_*1045delinsA)
c.*2567_*2569delinsA (n.*2567_*2569delinsA)
c.2317_2319delinsA (p.Val773IlefsTer?)
c.334_336delinsA (p.Val112IlefsTer?)
c.393_395delinsA
c.1525_1527delinsA (p.Val509IlefsTer?)
c.2653_2655delinsA (p.Val885IlefsTer?)
c.2833_2835delinsA (p.Val945IlefsTer?)
c.2500_2502delinsA (p.Val834IlefsTer?)
 ClinVar
7g.117603618T>ACA368986612CFTRc.2744T>A (p.Val915Glu)
c.*2458T>A (n.*2458T>A)
c.2561T>A (p.Val854Glu)
c.*1044T>A (n.*1044T>A)
c.*2568T>A (n.*2568T>A)
c.2318T>A (p.Val773Glu)
c.335T>A (p.Val112Glu)
c.394T>A
c.1526T>A (p.Val509Glu)
c.2654T>A (p.Val885Glu)
c.2834T>A (p.Val945Glu)
c.2501T>A (p.Val834Glu)
7g.117603618T>CCA368986615CFTRc.2744T>C (p.Val915Ala)
c.*2458T>C (n.*2458T>C)
c.2561T>C (p.Val854Ala)
c.*1044T>C (n.*1044T>C)
c.*2568T>C (n.*2568T>C)
c.2318T>C (p.Val773Ala)
c.335T>C (p.Val112Ala)
c.394T>C
c.1526T>C (p.Val509Ala)
c.2654T>C (p.Val885Ala)
c.2834T>C (p.Val945Ala)
c.2501T>C (p.Val834Ala)
7g.117603618T>GCA368986616CFTRc.2744T>G (p.Val915Gly)
c.*2458T>G (n.*2458T>G)
c.2561T>G (p.Val854Gly)
c.*1044T>G (n.*1044T>G)
c.*2568T>G (n.*2568T>G)
c.2318T>G (p.Val773Gly)
c.335T>G (p.Val112Gly)
c.394T>G
c.1526T>G (p.Val509Gly)
c.2654T>G (p.Val885Gly)
c.2834T>G (p.Val945Gly)
c.2501T>G (p.Val834Gly)
7g.117603619G>ACA457227944CFTRc.2745G>A (p.Val915=)
c.*2459G>A (n.*2459G>A)
c.2562G>A (p.Val854=)
c.*1045G>A (n.*1045G>A)
c.*2569G>A (n.*2569G>A)
c.2319G>A (p.Val773=)
c.336G>A (p.Val112=)
c.395G>A
c.1527G>A (p.Val509=)
c.2655G>A (p.Val885=)
c.2835G>A (p.Val945=)
c.2502G>A (p.Val834=)
 ClinVar dbSNP gnomAD v4
7g.117603619G>CCA457227945CFTRc.2745G>C (p.Val915=)
c.*2459G>C (n.*2459G>C)
c.2562G>C (p.Val854=)
c.*1045G>C (n.*1045G>C)
c.*2569G>C (n.*2569G>C)
c.2319G>C (p.Val773=)
c.336G>C (p.Val112=)
c.395G>C
c.1527G>C (p.Val509=)
c.2655G>C (p.Val885=)
c.2835G>C (p.Val945=)
c.2502G>C (p.Val834=)
7g.117603619G=CA1737374753CFTRc.2745G= (p.Val915=)
c.*2459G= (n.*2459G=)
c.2562G= (p.Val854=)
c.*1045G= (n.*1045G=)
c.*2569G= (n.*2569G=)
c.2319G= (p.Val773=)
c.336G= (p.Val112=)
c.395G=
c.1527G= (p.Val509=)
c.2655G= (p.Val885=)
c.2835G= (p.Val945=)
c.2502G= (p.Val834=)
7g.117603619G>TCA457227946CFTRc.2745G>T (p.Val915=)
c.*2459G>T (n.*2459G>T)
c.2562G>T (p.Val854=)
c.*1045G>T (n.*1045G>T)
c.*2569G>T (n.*2569G>T)
c.2319G>T (p.Val773=)
c.336G>T (p.Val112=)
c.395G>T
c.1527G>T (p.Val509=)
c.2655G>T (p.Val885=)
c.2835G>T (p.Val945=)
c.2502G>T (p.Val834=)
7g.117603620T>ACA368986621CFTRc.2746T>A (p.Phe916Ile)
c.*2460T>A (n.*2460T>A)
c.2563T>A (p.Phe855Ile)
c.*1046T>A (n.*1046T>A)
c.*2570T>A (n.*2570T>A)
c.2320T>A (p.Phe774Ile)
c.337T>A (p.Phe113Ile)
c.396T>A
c.1528T>A (p.Phe510Ile)
c.2656T>A (p.Phe886Ile)
c.2836T>A (p.Phe946Ile)
c.2503T>A (p.Phe835Ile)
 COSMIC
7g.117603620T>CCA368986618CFTRc.2746T>C (p.Phe916Leu)
c.*2460T>C (n.*2460T>C)
c.2563T>C (p.Phe855Leu)
c.*1046T>C (n.*1046T>C)
c.*2570T>C (n.*2570T>C)
c.2320T>C (p.Phe774Leu)
c.337T>C (p.Phe113Leu)
c.396T>C
c.1528T>C (p.Phe510Leu)
c.2656T>C (p.Phe886Leu)
c.2836T>C (p.Phe946Leu)
c.2503T>C (p.Phe835Leu)
7g.117603620T>GCA368986619CFTRc.2746T>G (p.Phe916Val)
c.*2460T>G (n.*2460T>G)
c.2563T>G (p.Phe855Val)
c.*1046T>G (n.*1046T>G)
c.*2570T>G (n.*2570T>G)
c.2320T>G (p.Phe774Val)
c.337T>G (p.Phe113Val)
c.396T>G
c.1528T>G (p.Phe510Val)
c.2656T>G (p.Phe886Val)
c.2836T>G (p.Phe946Val)
c.2503T>G (p.Phe835Val)
7g.117603621T>ACA368986622CFTRc.2747T>A (p.Phe916Tyr)
c.*2461T>A (n.*2461T>A)
c.2564T>A (p.Phe855Tyr)
c.*1047T>A (n.*1047T>A)
c.*2571T>A (n.*2571T>A)
c.2321T>A (p.Phe774Tyr)
c.338T>A (p.Phe113Tyr)
c.397T>A
c.1529T>A (p.Phe510Tyr)
c.2657T>A (p.Phe886Tyr)
c.2837T>A (p.Phe946Tyr)
c.2504T>A (p.Phe835Tyr)
 COSMIC
7g.117603621T>CCA368986623CFTRc.2747T>C (p.Phe916Ser)
c.*2461T>C (n.*2461T>C)
c.2564T>C (p.Phe855Ser)
c.*1047T>C (n.*1047T>C)
c.*2571T>C (n.*2571T>C)
c.2321T>C (p.Phe774Ser)
c.338T>C (p.Phe113Ser)
c.397T>C
c.1529T>C (p.Phe510Ser)
c.2657T>C (p.Phe886Ser)
c.2837T>C (p.Phe946Ser)
c.2504T>C (p.Phe835Ser)
7g.117603621T>GCA368986624CFTRc.2747T>G (p.Phe916Cys)
c.*2461T>G (n.*2461T>G)
c.2564T>G (p.Phe855Cys)
c.*1047T>G (n.*1047T>G)
c.*2571T>G (n.*2571T>G)
c.2321T>G (p.Phe774Cys)
c.338T>G (p.Phe113Cys)
c.397T>G
c.1529T>G (p.Phe510Cys)
c.2657T>G (p.Phe886Cys)
c.2837T>G (p.Phe946Cys)
c.2504T>G (p.Phe835Cys)
7g.117603622T>ACA368986627CFTRc.2748T>A (p.Phe916Leu)
c.*2462T>A (n.*2462T>A)
c.2565T>A (p.Phe855Leu)
c.*1048T>A (n.*1048T>A)
c.*2572T>A (n.*2572T>A)
c.2322T>A (p.Phe774Leu)
c.339T>A (p.Phe113Leu)
c.398T>A
c.1530T>A (p.Phe510Leu)
c.2658T>A (p.Phe886Leu)
c.2838T>A (p.Phe946Leu)
c.2505T>A (p.Phe835Leu)
7g.117603622T>CCA457227947CFTRc.2748T>C (p.Phe916=)
c.*2462T>C (n.*2462T>C)
c.2565T>C (p.Phe855=)
c.*1048T>C (n.*1048T>C)
c.*2572T>C (n.*2572T>C)
c.2322T>C (p.Phe774=)
c.339T>C (p.Phe113=)
c.398T>C
c.1530T>C (p.Phe510=)
c.2658T>C (p.Phe886=)
c.2838T>C (p.Phe946=)
c.2505T>C (p.Phe835=)
 dbSNP gnomAD v2 gnomAD v4
7g.117603622T>GCA368986628CFTRc.2748T>G (p.Phe916Leu)
c.*2462T>G (n.*2462T>G)
c.2565T>G (p.Phe855Leu)
c.*1048T>G (n.*1048T>G)
c.*2572T>G (n.*2572T>G)
c.2322T>G (p.Phe774Leu)
c.339T>G (p.Phe113Leu)
c.398T>G
c.1530T>G (p.Phe510Leu)
c.2658T>G (p.Phe886Leu)
c.2838T>G (p.Phe946Leu)
c.2505T>G (p.Phe835Leu)
7g.117603622T=CA1737374756CFTRc.2748T= (p.Phe916=)
c.*2462T= (n.*2462T=)
c.2565T= (p.Phe855=)
c.*1048T= (n.*1048T=)
c.*2572T= (n.*2572T=)
c.2322T= (p.Phe774=)
c.339T= (p.Phe113=)
c.398T=
c.1530T= (p.Phe510=)
c.2658T= (p.Phe886=)
c.2838T= (p.Phe946=)
c.2505T= (p.Phe835=)
7g.117603623T>ACA368986630CFTRc.2749T>A (p.Tyr917Asn)
c.*2463T>A (n.*2463T>A)
c.2566T>A (p.Tyr856Asn)
c.*1049T>A (n.*1049T>A)
c.*2573T>A (n.*2573T>A)
c.2323T>A (p.Tyr775Asn)
c.340T>A (p.Tyr114Asn)
c.399T>A
c.1531T>A (p.Tyr511Asn)
c.2659T>A (p.Tyr887Asn)
c.2839T>A (p.Tyr947Asn)
c.2506T>A (p.Tyr836Asn)
7g.117603623T>CCA368986629CFTRc.2749T>C (p.Tyr917His)
c.*2463T>C (n.*2463T>C)
c.2566T>C (p.Tyr856His)
c.*1049T>C (n.*1049T>C)
c.*2573T>C (n.*2573T>C)
c.2323T>C (p.Tyr775His)
c.340T>C (p.Tyr114His)
c.399T>C
c.1531T>C (p.Tyr511His)
c.2659T>C (p.Tyr887His)
c.2839T>C (p.Tyr947His)
c.2506T>C (p.Tyr836His)
 gnomAD v4
7g.117603623T>GCA326909CFTRc.2749T>G (p.Tyr917Asp)
c.*2463T>G (n.*2463T>G)
c.2566T>G (p.Tyr856Asp)
c.*1049T>G (n.*1049T>G)
c.*2573T>G (n.*2573T>G)
c.2323T>G (p.Tyr775Asp)
c.340T>G (p.Tyr114Asp)
c.399T>G
c.1531T>G (p.Tyr511Asp)
c.2659T>G (p.Tyr887Asp)
c.2839T>G (p.Tyr947Asp)
c.2506T>G (p.Tyr836Asp)
 dbSNP
7g.117603623T=CA1737374759CFTRc.2749T= (p.Tyr917=)
c.*2463T= (n.*2463T=)
c.2566T= (p.Tyr856=)
c.*1049T= (n.*1049T=)
c.*2573T= (n.*2573T=)
c.2323T= (p.Tyr775=)
c.340T= (p.Tyr114=)
c.399T=
c.1531T= (p.Tyr511=)
c.2659T= (p.Tyr887=)
c.2839T= (p.Tyr947=)
c.2506T= (p.Tyr836=)
7g.117603624A=CA1737374762CFTRc.2750A= (p.Tyr917=)
c.*2464A= (n.*2464A=)
c.2567A= (p.Tyr856=)
c.*1050A= (n.*1050A=)
c.*2574A= (n.*2574A=)
c.2324A= (p.Tyr775=)
c.341A= (p.Tyr114=)
c.400A=
c.1532A= (p.Tyr511=)
c.2660A= (p.Tyr887=)
c.2840A= (p.Tyr947=)
c.2507A= (p.Tyr836=)
7g.117603624A>CCA368986631CFTRc.2750A>C (p.Tyr917Ser)
c.*2464A>C (n.*2464A>C)
c.2567A>C (p.Tyr856Ser)
c.*1050A>C (n.*1050A>C)
c.*2574A>C (n.*2574A>C)
c.2324A>C (p.Tyr775Ser)
c.341A>C (p.Tyr114Ser)
c.400A>C
c.1532A>C (p.Tyr511Ser)
c.2660A>C (p.Tyr887Ser)
c.2840A>C (p.Tyr947Ser)
c.2507A>C (p.Tyr836Ser)
7g.117603624A>GCA326911CFTRc.2750A>G (p.Tyr917Cys)
c.*2464A>G (n.*2464A>G)
c.2567A>G (p.Tyr856Cys)
c.*1050A>G (n.*1050A>G)
c.*2574A>G (n.*2574A>G)
c.2324A>G (p.Tyr775Cys)
c.341A>G (p.Tyr114Cys)
c.400A>G
c.1532A>G (p.Tyr511Cys)
c.2660A>G (p.Tyr887Cys)
c.2840A>G (p.Tyr947Cys)
c.2507A>G (p.Tyr836Cys)
 ClinVar dbSNP
7g.117603624A>TCA368986633CFTRc.2750A>T (p.Tyr917Phe)
c.*2464A>T (n.*2464A>T)
c.2567A>T (p.Tyr856Phe)
c.*1050A>T (n.*1050A>T)
c.*2574A>T (n.*2574A>T)
c.2324A>T (p.Tyr775Phe)
c.341A>T (p.Tyr114Phe)
c.400A>T
c.1532A>T (p.Tyr511Phe)
c.2660A>T (p.Tyr887Phe)
c.2840A>T (p.Tyr947Phe)
c.2507A>T (p.Tyr836Phe)
7g.117603624_117603625insTTTTAGATATAGGATCA2562823202CFTRc.2750_2751insTTTTAGATATAGGAT (p.Tyr917_Ile918insPheArgTyrArgIle)
c.*2464_*2465insTTTTAGATATAGGAT (n.*2464_*2465insTTTTAGATATAGGAT)
c.2567_2568insTTTTAGATATAGGAT (p.Tyr856_Ile857insPheArgTyrArgIle)
c.*1050_*1051insTTTTAGATATAGGAT (n.*1050_*1051insTTTTAGATATAGGAT)
c.*2574_*2575insTTTTAGATATAGGAT (n.*2574_*2575insTTTTAGATATAGGAT)
c.2324_2325insTTTTAGATATAGGAT (p.Tyr775_Ile776insPheArgTyrArgIle)
c.341_342insTTTTAGATATAGGAT (p.Tyr114_Ile115insPheArgTyrArgIle)
c.400_401insTTTTAGATATAGGAT
c.1532_1533insTTTTAGATATAGGAT (p.Tyr511_Ile512insPheArgTyrArgIle)
c.2660_2661insTTTTAGATATAGGAT (p.Tyr887_Ile888insPheArgTyrArgIle)
c.2840_2841insTTTTAGATATAGGAT (p.Tyr947_Ile948insPheArgTyrArgIle)
c.2507_2508insTTTTAGATATAGGAT (p.Tyr836_Ile837insPheArgTyrArgIle)
7g.117603625C>ACA368986636CFTRc.2751C>A (p.Tyr917Ter)
c.*2465C>A (n.*2465C>A)
c.2568C>A (p.Tyr856Ter)
c.*1051C>A (n.*1051C>A)
c.*2575C>A (n.*2575C>A)
c.2325C>A (p.Tyr775Ter)
c.342C>A (p.Tyr114Ter)
c.401C>A
c.1533C>A (p.Tyr511Ter)
c.2661C>A (p.Tyr887Ter)
c.2841C>A (p.Tyr947Ter)
c.2508C>A (p.Tyr836Ter)
7g.117603625C=CA1737374767CFTRc.2751C= (p.Tyr917=)
c.*2465C= (n.*2465C=)
c.2568C= (p.Tyr856=)
c.*1051C= (n.*1051C=)
c.*2575C= (n.*2575C=)
c.2325C= (p.Tyr775=)
c.342C= (p.Tyr114=)
c.401C=
c.1533C= (p.Tyr511=)
c.2661C= (p.Tyr887=)
c.2841C= (p.Tyr947=)
c.2508C= (p.Tyr836=)
7g.117603625C>GCA368986638CFTRc.2751C>G (p.Tyr917Ter)
c.*2465C>G (n.*2465C>G)
c.2568C>G (p.Tyr856Ter)
c.*1051C>G (n.*1051C>G)
c.*2575C>G (n.*2575C>G)
c.2325C>G (p.Tyr775Ter)
c.342C>G (p.Tyr114Ter)
c.401C>G
c.1533C>G (p.Tyr511Ter)
c.2661C>G (p.Tyr887Ter)
c.2841C>G (p.Tyr947Ter)
c.2508C>G (p.Tyr836Ter)
7g.117603625C>TCA457227948CFTRc.2751C>T (p.Tyr917=)
c.*2465C>T (n.*2465C>T)
c.2568C>T (p.Tyr856=)
c.*1051C>T (n.*1051C>T)
c.*2575C>T (n.*2575C>T)
c.2325C>T (p.Tyr775=)
c.342C>T (p.Tyr114=)
c.401C>T
c.1533C>T (p.Tyr511=)
c.2661C>T (p.Tyr887=)
c.2841C>T (p.Tyr947=)
c.2508C>T (p.Tyr836=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603626A=CA1737374783CFTRc.2752A= (p.Ile918=)
c.*2466A= (n.*2466A=)
c.2569A= (p.Ile857=)
c.*1052A= (n.*1052A=)
c.*2576A= (n.*2576A=)
c.2326A= (p.Ile776=)
c.343A= (p.Ile115=)
c.402A=
c.1534A= (p.Ile512=)
c.2662A= (p.Ile888=)
c.2842A= (p.Ile948=)
c.2509A= (p.Ile837=)
7g.117603626A>CCA368986642CFTRc.2752A>C (p.Ile918Leu)
c.*2466A>C (n.*2466A>C)
c.2569A>C (p.Ile857Leu)
c.*1052A>C (n.*1052A>C)
c.*2576A>C (n.*2576A>C)
c.2326A>C (p.Ile776Leu)
c.343A>C (p.Ile115Leu)
c.402A>C
c.1534A>C (p.Ile512Leu)
c.2662A>C (p.Ile888Leu)
c.2842A>C (p.Ile948Leu)
c.2509A>C (p.Ile837Leu)
 ClinVar
7g.117603626A>GCA368986644CFTRc.2752A>G (p.Ile918Val)
c.*2466A>G (n.*2466A>G)
c.2569A>G (p.Ile857Val)
c.*1052A>G (n.*1052A>G)
c.*2576A>G (n.*2576A>G)
c.2326A>G (p.Ile776Val)
c.343A>G (p.Ile115Val)
c.402A>G
c.1534A>G (p.Ile512Val)
c.2662A>G (p.Ile888Val)
c.2842A>G (p.Ile948Val)
c.2509A>G (p.Ile837Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603626A>TCA368986646CFTRc.2752A>T (p.Ile918Phe)
c.*2466A>T (n.*2466A>T)
c.2569A>T (p.Ile857Phe)
c.*1052A>T (n.*1052A>T)
c.*2576A>T (n.*2576A>T)
c.2326A>T (p.Ile776Phe)
c.343A>T (p.Ile115Phe)
c.402A>T
c.1534A>T (p.Ile512Phe)
c.2662A>T (p.Ile888Phe)
c.2842A>T (p.Ile948Phe)
c.2509A>T (p.Ile837Phe)
 ClinVar dbSNP
7g.117603627T>ACA368986649CFTRc.2753T>A (p.Ile918Asn)
c.*2467T>A (n.*2467T>A)
c.2570T>A (p.Ile857Asn)
c.*1053T>A (n.*1053T>A)
c.*2577T>A (n.*2577T>A)
c.2327T>A (p.Ile776Asn)
c.344T>A (p.Ile115Asn)
c.403T>A
c.1535T>A (p.Ile512Asn)
c.2663T>A (p.Ile888Asn)
c.2843T>A (p.Ile948Asn)
c.2510T>A (p.Ile837Asn)
7g.117603627T>CCA368986653CFTRc.2753T>C (p.Ile918Thr)
c.*2467T>C (n.*2467T>C)
c.2570T>C (p.Ile857Thr)
c.*1053T>C (n.*1053T>C)
c.*2577T>C (n.*2577T>C)
c.2327T>C (p.Ile776Thr)
c.344T>C (p.Ile115Thr)
c.403T>C
c.1535T>C (p.Ile512Thr)
c.2663T>C (p.Ile888Thr)
c.2843T>C (p.Ile948Thr)
c.2510T>C (p.Ile837Thr)
 gnomAD v4
7g.117603627T>GCA368986651CFTRc.2753T>G (p.Ile918Ser)
c.*2467T>G (n.*2467T>G)
c.2570T>G (p.Ile857Ser)
c.*1053T>G (n.*1053T>G)
c.*2577T>G (n.*2577T>G)
c.2327T>G (p.Ile776Ser)
c.344T>G (p.Ile115Ser)
c.403T>G
c.1535T>G (p.Ile512Ser)
c.2663T>G (p.Ile888Ser)
c.2843T>G (p.Ile948Ser)
c.2510T>G (p.Ile837Ser)
7g.117603629delCA2695199620CFTRc.2755del (p.Tyr919ThrfsTer4)
c.*2469del (n.*2469del)
c.2572del (p.Tyr858ThrfsTer4)
c.*1055del (n.*1055del)
c.*2579del (n.*2579del)
c.2329del (p.Tyr777ThrfsTer4)
c.346del (p.Tyr116ThrfsTer4)
c.405del
c.1537del (p.Tyr513ThrfsTer4)
c.2665del (p.Tyr889ThrfsTer4)
c.2845del (p.Tyr949ThrfsTer4)
c.2512del (p.Tyr838ThrfsTer4)
 ClinVar
7g.117603628T>ACA457227949CFTRc.2754T>A (p.Ile918=)
c.*2468T>A (n.*2468T>A)
c.2571T>A (p.Ile857=)
c.*1054T>A (n.*1054T>A)
c.*2578T>A (n.*2578T>A)
c.2328T>A (p.Ile776=)
c.345T>A (p.Ile115=)
c.404T>A
c.1536T>A (p.Ile512=)
c.2664T>A (p.Ile888=)
c.2844T>A (p.Ile948=)
c.2511T>A (p.Ile837=)
7g.117603628T>CCA457227950CFTRc.2754T>C (p.Ile918=)
c.*2468T>C (n.*2468T>C)
c.2571T>C (p.Ile857=)
c.*1054T>C (n.*1054T>C)
c.*2578T>C (n.*2578T>C)
c.2328T>C (p.Ile776=)
c.345T>C (p.Ile115=)
c.404T>C
c.1536T>C (p.Ile512=)
c.2664T>C (p.Ile888=)
c.2844T>C (p.Ile948=)
c.2511T>C (p.Ile837=)
7g.117603628T>GCA326912CFTRc.2754T>G (p.Ile918Met)
c.*2468T>G (n.*2468T>G)
c.2571T>G (p.Ile857Met)
c.*1054T>G (n.*1054T>G)
c.*2578T>G (n.*2578T>G)
c.2328T>G (p.Ile776Met)
c.345T>G (p.Ile115Met)
c.404T>G
c.1536T>G (p.Ile512Met)
c.2664T>G (p.Ile888Met)
c.2844T>G (p.Ile948Met)
c.2511T>G (p.Ile837Met)
 ClinVar dbSNP
7g.117603628T=CA1737374806CFTRc.2754T= (p.Ile918=)
c.*2468T= (n.*2468T=)
c.2571T= (p.Ile857=)
c.*1054T= (n.*1054T=)
c.*2578T= (n.*2578T=)
c.2328T= (p.Ile776=)
c.345T= (p.Ile115=)
c.404T=
c.1536T= (p.Ile512=)
c.2664T= (p.Ile888=)
c.2844T= (p.Ile948=)
c.2511T= (p.Ile837=)
7g.117603629T>ACA164960117CFTRc.2755T>A (p.Tyr919Asn)
c.*2469T>A (n.*2469T>A)
c.2572T>A (p.Tyr858Asn)
c.*1055T>A (n.*1055T>A)
c.*2579T>A (n.*2579T>A)
c.2329T>A (p.Tyr777Asn)
c.346T>A (p.Tyr116Asn)
c.405T>A
c.1537T>A (p.Tyr513Asn)
c.2665T>A (p.Tyr889Asn)
c.2845T>A (p.Tyr949Asn)
c.2512T>A (p.Tyr838Asn)
 ClinVar dbSNP gnomAD v4
7g.117603629T>CCA368986659CFTRc.2755T>C (p.Tyr919His)
c.*2469T>C (n.*2469T>C)
c.2572T>C (p.Tyr858His)
c.*1055T>C (n.*1055T>C)
c.*2579T>C (n.*2579T>C)
c.2329T>C (p.Tyr777His)
c.346T>C (p.Tyr116His)
c.405T>C
c.1537T>C (p.Tyr513His)
c.2665T>C (p.Tyr889His)
c.2845T>C (p.Tyr949His)
c.2512T>C (p.Tyr838His)
7g.117603629T>GCA368986661CFTRc.2755T>G (p.Tyr919Asp)
c.*2469T>G (n.*2469T>G)
c.2572T>G (p.Tyr858Asp)
c.*1055T>G (n.*1055T>G)
c.*2579T>G (n.*2579T>G)
c.2329T>G (p.Tyr777Asp)
c.346T>G (p.Tyr116Asp)
c.405T>G
c.1537T>G (p.Tyr513Asp)
c.2665T>G (p.Tyr889Asp)
c.2845T>G (p.Tyr949Asp)
c.2512T>G (p.Tyr838Asp)
7g.117603629T=CA1737374811CFTRc.2755T= (p.Tyr919=)
c.*2469T= (n.*2469T=)
c.2572T= (p.Tyr858=)
c.*1055T= (n.*1055T=)
c.*2579T= (n.*2579T=)
c.2329T= (p.Tyr777=)
c.346T= (p.Tyr116=)
c.405T=
c.1537T= (p.Tyr513=)
c.2665T= (p.Tyr889=)
c.2845T= (p.Tyr949=)
c.2512T= (p.Tyr838=)
7g.117603630A=CA1737374819CFTRc.2756A= (p.Tyr919=)
c.*2470A= (n.*2470A=)
c.2573A= (p.Tyr858=)
c.*1056A= (n.*1056A=)
c.*2580A= (n.*2580A=)
c.2330A= (p.Tyr777=)
c.347A= (p.Tyr116=)
c.406A=
c.1538A= (p.Tyr513=)
c.2666A= (p.Tyr889=)
c.2846A= (p.Tyr949=)
c.2513A= (p.Tyr838=)
7g.117603630A>CCA368986664CFTRc.2756A>C (p.Tyr919Ser)
c.*2470A>C (n.*2470A>C)
c.2573A>C (p.Tyr858Ser)
c.*1056A>C (n.*1056A>C)
c.*2580A>C (n.*2580A>C)
c.2330A>C (p.Tyr777Ser)
c.347A>C (p.Tyr116Ser)
c.406A>C
c.1538A>C (p.Tyr513Ser)
c.2666A>C (p.Tyr889Ser)
c.2846A>C (p.Tyr949Ser)
c.2513A>C (p.Tyr838Ser)
7g.117603630A>GCA326914CFTRc.2756A>G (p.Tyr919Cys)
c.*2470A>G (n.*2470A>G)
c.2573A>G (p.Tyr858Cys)
c.*1056A>G (n.*1056A>G)
c.*2580A>G (n.*2580A>G)
c.2330A>G (p.Tyr777Cys)
c.347A>G (p.Tyr116Cys)
c.406A>G
c.1538A>G (p.Tyr513Cys)
c.2666A>G (p.Tyr889Cys)
c.2846A>G (p.Tyr949Cys)
c.2513A>G (p.Tyr838Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603630A>TCA368986666CFTRc.2756A>T (p.Tyr919Phe)
c.*2470A>T (n.*2470A>T)
c.2573A>T (p.Tyr858Phe)
c.*1056A>T (n.*1056A>T)
c.*2580A>T (n.*2580A>T)
c.2330A>T (p.Tyr777Phe)
c.347A>T (p.Tyr116Phe)
c.406A>T
c.1538A>T (p.Tyr513Phe)
c.2666A>T (p.Tyr889Phe)
c.2846A>T (p.Tyr949Phe)
c.2513A>T (p.Tyr838Phe)
7g.117603631C>ACA368986669CFTRc.2757C>A (p.Tyr919Ter)
c.*2471C>A (n.*2471C>A)
c.2574C>A (p.Tyr858Ter)
c.*1057C>A (n.*1057C>A)
c.*2581C>A (n.*2581C>A)
c.2331C>A (p.Tyr777Ter)
c.348C>A (p.Tyr116Ter)
c.407C>A
c.1539C>A (p.Tyr513Ter)
c.2667C>A (p.Tyr889Ter)
c.2847C>A (p.Tyr949Ter)
c.2514C>A (p.Tyr838Ter)
 ClinVar dbSNP
7g.117603631C=CA1737374837CFTRc.2757C= (p.Tyr919=)
c.*2471C= (n.*2471C=)
c.2574C= (p.Tyr858=)
c.*1057C= (n.*1057C=)
c.*2581C= (n.*2581C=)
c.2331C= (p.Tyr777=)
c.348C= (p.Tyr116=)
c.407C=
c.1539C= (p.Tyr513=)
c.2667C= (p.Tyr889=)
c.2847C= (p.Tyr949=)
c.2514C= (p.Tyr838=)
7g.117603631C>GCA368986670CFTRc.2757C>G (p.Tyr919Ter)
c.*2471C>G (n.*2471C>G)
c.2574C>G (p.Tyr858Ter)
c.*1057C>G (n.*1057C>G)
c.*2581C>G (n.*2581C>G)
c.2331C>G (p.Tyr777Ter)
c.348C>G (p.Tyr116Ter)
c.407C>G
c.1539C>G (p.Tyr513Ter)
c.2667C>G (p.Tyr889Ter)
c.2847C>G (p.Tyr949Ter)
c.2514C>G (p.Tyr838Ter)
 ClinVar dbSNP
7g.117603631C>TCA457227951CFTRc.2757C>T (p.Tyr919=)
c.*2471C>T (n.*2471C>T)
c.2574C>T (p.Tyr858=)
c.*1057C>T (n.*1057C>T)
c.*2581C>T (n.*2581C>T)
c.2331C>T (p.Tyr777=)
c.348C>T (p.Tyr116=)
c.407C>T
c.1539C>T (p.Tyr513=)
c.2667C>T (p.Tyr889=)
c.2847C>T (p.Tyr949=)
c.2514C>T (p.Tyr838=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603632G>ACA326916CFTRc.2758G>A (p.Val920Met)
c.*2472G>A (n.*2472G>A)
c.2575G>A (p.Val859Met)
c.*1058G>A (n.*1058G>A)
c.*2582G>A (n.*2582G>A)
c.2332G>A (p.Val778Met)
c.349G>A (p.Val117Met)
c.408G>A
c.1540G>A (p.Val514Met)
c.2668G>A (p.Val890Met)
c.2848G>A (p.Val950Met)
c.2515G>A (p.Val839Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603632G>CCA368986672CFTRc.2758G>C (p.Val920Leu)
c.*2472G>C (n.*2472G>C)
c.2575G>C (p.Val859Leu)
c.*1058G>C (n.*1058G>C)
c.*2582G>C (n.*2582G>C)
c.2332G>C (p.Val778Leu)
c.349G>C (p.Val117Leu)
c.408G>C
c.1540G>C (p.Val514Leu)
c.2668G>C (p.Val890Leu)
c.2848G>C (p.Val950Leu)
c.2515G>C (p.Val839Leu)
 ClinVar
7g.117603632G=CA1737374860CFTRc.2758G= (p.Val920=)
c.*2472G= (n.*2472G=)
c.2575G= (p.Val859=)
c.*1058G= (n.*1058G=)
c.*2582G= (n.*2582G=)
c.2332G= (p.Val778=)
c.349G= (p.Val117=)
c.408G=
c.1540G= (p.Val514=)
c.2668G= (p.Val890=)
c.2848G= (p.Val950=)
c.2515G= (p.Val839=)
7g.117603632G>TCA326918CFTRc.2758G>T (p.Val920Leu)
c.*2472G>T (n.*2472G>T)
c.2575G>T (p.Val859Leu)
c.*1058G>T (n.*1058G>T)
c.*2582G>T (n.*2582G>T)
c.2332G>T (p.Val778Leu)
c.349G>T (p.Val117Leu)
c.408G>T
c.1540G>T (p.Val514Leu)
c.2668G>T (p.Val890Leu)
c.2848G>T (p.Val950Leu)
c.2515G>T (p.Val839Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603633T>ACA368986675CFTRc.2759T>A (p.Val920Glu)
c.*2473T>A (n.*2473T>A)
c.2576T>A (p.Val859Glu)
c.*1059T>A (n.*1059T>A)
c.*2583T>A (n.*2583T>A)
c.2333T>A (p.Val778Glu)
c.350T>A (p.Val117Glu)
c.409T>A
c.1541T>A (p.Val514Glu)
c.2669T>A (p.Val890Glu)
c.2849T>A (p.Val950Glu)
c.2516T>A (p.Val839Glu)
7g.117603633T>CCA368986677CFTRc.2759T>C (p.Val920Ala)
c.*2473T>C (n.*2473T>C)
c.2576T>C (p.Val859Ala)
c.*1059T>C (n.*1059T>C)
c.*2583T>C (n.*2583T>C)
c.2333T>C (p.Val778Ala)
c.350T>C (p.Val117Ala)
c.409T>C
c.1541T>C (p.Val514Ala)
c.2669T>C (p.Val890Ala)
c.2849T>C (p.Val950Ala)
c.2516T>C (p.Val839Ala)
7g.117603633T>GCA368986679CFTRc.2759T>G (p.Val920Gly)
c.*2473T>G (n.*2473T>G)
c.2576T>G (p.Val859Gly)
c.*1059T>G (n.*1059T>G)
c.*2583T>G (n.*2583T>G)
c.2333T>G (p.Val778Gly)
c.350T>G (p.Val117Gly)
c.409T>G
c.1541T>G (p.Val514Gly)
c.2669T>G (p.Val890Gly)
c.2849T>G (p.Val950Gly)
c.2516T>G (p.Val839Gly)
 dbSNP
7g.117603633T=CA1737374873CFTRc.2759T= (p.Val920=)
c.*2473T= (n.*2473T=)
c.2576T= (p.Val859=)
c.*1059T= (n.*1059T=)
c.*2583T= (n.*2583T=)
c.2333T= (p.Val778=)
c.350T= (p.Val117=)
c.409T=
c.1541T= (p.Val514=)
c.2669T= (p.Val890=)
c.2849T= (p.Val950=)
c.2516T= (p.Val839=)
7g.117603633_117603634delinsTGCA1737374874CFTRc.2759_2760delinsTG (p.Val920=)
c.*2473_*2474delinsTG (n.*2473_*2474delinsTG)
c.2576_2577delinsTG (p.Val859=)
c.*1059_*1060delinsTG (n.*1059_*1060delinsTG)
c.*2583_*2584delinsTG (n.*2583_*2584delinsTG)
c.2333_2334delinsTG (p.Val778=)
c.350_351delinsTG (p.Val117=)
c.409_410delinsTG
c.1541_1542delinsTG (p.Val514=)
c.2669_2670delinsTG (p.Val890=)
c.2849_2850delinsTG (p.Val950=)
c.2516_2517delinsTG (p.Val839=)
7g.117603634G>ACA457227952CFTRc.2760G>A (p.Val920=)
c.*2474G>A (n.*2474G>A)
c.2577G>A (p.Val859=)
c.*1060G>A (n.*1060G>A)
c.*2584G>A (n.*2584G>A)
c.2334G>A (p.Val778=)
c.351G>A (p.Val117=)
c.410G>A
c.1542G>A (p.Val514=)
c.2670G>A (p.Val890=)
c.2850G>A (p.Val950=)
c.2517G>A (p.Val839=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603634G>CCA457227953CFTRc.2760G>C (p.Val920=)
c.*2474G>C (n.*2474G>C)
c.2577G>C (p.Val859=)
c.*1060G>C (n.*1060G>C)
c.*2584G>C (n.*2584G>C)
c.2334G>C (p.Val778=)
c.351G>C (p.Val117=)
c.410G>C
c.1542G>C (p.Val514=)
c.2670G>C (p.Val890=)
c.2850G>C (p.Val950=)
c.2517G>C (p.Val839=)
7g.117603634G=CA1737374882CFTRc.2760G= (p.Val920=)
c.*2474G= (n.*2474G=)
c.2577G= (p.Val859=)
c.*1060G= (n.*1060G=)
c.*2584G= (n.*2584G=)
c.2334G= (p.Val778=)
c.351G= (p.Val117=)
c.410G=
c.1542G= (p.Val514=)
c.2670G= (p.Val890=)
c.2850G= (p.Val950=)
c.2517G= (p.Val839=)
7g.117603634G>TCA457227954CFTRc.2760G>T (p.Val920=)
c.*2474G>T (n.*2474G>T)
c.2577G>T (p.Val859=)
c.*1060G>T (n.*1060G>T)
c.*2584G>T (n.*2584G>T)
c.2334G>T (p.Val778=)
c.351G>T (p.Val117=)
c.410G>T
c.1542G>T (p.Val514=)
c.2670G>T (p.Val890=)
c.2850G>T (p.Val950=)
c.2517G>T (p.Val839=)
7g.117603636dupCA1737374883CFTRc.2762dup (p.Val922SerfsTer?)
c.*2476dup (n.*2476dup)
c.2579dup (p.Val861SerfsTer?)
c.*1062dup (n.*1062dup)
c.*2586dup (n.*2586dup)
c.2336dup (p.Val780SerfsTer?)
c.353dup (p.Val119SerfsTer?)
c.412dup
c.1544dup (p.Val516SerfsTer?)
c.2672dup (p.Val892SerfsTer?)
c.2852dup (p.Val952SerfsTer?)
c.2519dup (p.Val841SerfsTer?)
 dbSNP
7g.117603636delCA4451283CFTRc.2762del (p.Gly921GlufsTer2)
c.*2476del (n.*2476del)
c.2579del (p.Gly860GlufsTer2)
c.*1062del (n.*1062del)
c.*2586del (n.*2586del)
c.2336del (p.Gly779GlufsTer2)
c.353del (p.Gly118GlufsTer2)
c.412del
c.1544del (p.Gly515GlufsTer2)
c.2672del (p.Gly891GlufsTer2)
c.2852del (p.Gly951GlufsTer2)
c.2519del (p.Gly840GlufsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603635G>ACA4451284CFTRc.2761G>A (p.Gly921Arg)
c.*2475G>A (n.*2475G>A)
c.2578G>A (p.Gly860Arg)
c.*1061G>A (n.*1061G>A)
c.*2585G>A (n.*2585G>A)
c.2335G>A (p.Gly779Arg)
c.352G>A (p.Gly118Arg)
c.411G>A
c.1543G>A (p.Gly515Arg)
c.2671G>A (p.Gly891Arg)
c.2851G>A (p.Gly951Arg)
c.2518G>A (p.Gly840Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603635G>CCA368986680CFTRc.2761G>C (p.Gly921Arg)
c.*2475G>C (n.*2475G>C)
c.2578G>C (p.Gly860Arg)
c.*1061G>C (n.*1061G>C)
c.*2585G>C (n.*2585G>C)
c.2335G>C (p.Gly779Arg)
c.352G>C (p.Gly118Arg)
c.411G>C
c.1543G>C (p.Gly515Arg)
c.2671G>C (p.Gly891Arg)
c.2851G>C (p.Gly951Arg)
c.2518G>C (p.Gly840Arg)
7g.117603635G=CA1737374888CFTRc.2761G= (p.Gly921=)
c.*2475G= (n.*2475G=)
c.2578G= (p.Gly860=)
c.*1061G= (n.*1061G=)
c.*2585G= (n.*2585G=)
c.2335G= (p.Gly779=)
c.352G= (p.Gly118=)
c.411G=
c.1543G= (p.Gly515=)
c.2671G= (p.Gly891=)
c.2851G= (p.Gly951=)
c.2518G= (p.Gly840=)
7g.117603635G>TCA368986681CFTRc.2761G>T (p.Gly921Ter)
c.*2475G>T (n.*2475G>T)
c.2578G>T (p.Gly860Ter)
c.*1061G>T (n.*1061G>T)
c.*2585G>T (n.*2585G>T)
c.2335G>T (p.Gly779Ter)
c.352G>T (p.Gly118Ter)
c.411G>T
c.1543G>T (p.Gly515Ter)
c.2671G>T (p.Gly891Ter)
c.2851G>T (p.Gly951Ter)
c.2518G>T (p.Gly840Ter)
7g.117603636G>ACA260220CFTRc.2762G>A (p.Gly921Glu)
c.*2476G>A (n.*2476G>A)
c.2579G>A (p.Gly860Glu)
c.*1062G>A (n.*1062G>A)
c.*2586G>A (n.*2586G>A)
c.2336G>A (p.Gly779Glu)
c.353G>A (p.Gly118Glu)
c.412G>A
c.1544G>A (p.Gly515Glu)
c.2672G>A (p.Gly891Glu)
c.2852G>A (p.Gly951Glu)
c.2519G>A (p.Gly840Glu)
 ClinVar dbSNP gnomAD v2 COSMIC
7g.117603636G>CCA368986682CFTRc.2762G>C (p.Gly921Ala)
c.*2476G>C (n.*2476G>C)
c.2579G>C (p.Gly860Ala)
c.*1062G>C (n.*1062G>C)
c.*2586G>C (n.*2586G>C)
c.2336G>C (p.Gly779Ala)
c.353G>C (p.Gly118Ala)
c.412G>C
c.1544G>C (p.Gly515Ala)
c.2672G>C (p.Gly891Ala)
c.2852G>C (p.Gly951Ala)
c.2519G>C (p.Gly840Ala)
 gnomAD v4
7g.117603636G=CA1737374898CFTRc.2762G= (p.Gly921=)
c.*2476G= (n.*2476G=)
c.2579G= (p.Gly860=)
c.*1062G= (n.*1062G=)
c.*2586G= (n.*2586G=)
c.2336G= (p.Gly779=)
c.353G= (p.Gly118=)
c.412G=
c.1544G= (p.Gly515=)
c.2672G= (p.Gly891=)
c.2852G= (p.Gly951=)
c.2519G= (p.Gly840=)
7g.117603636G>TCA368986685CFTRc.2762G>T (p.Gly921Val)
c.*2476G>T (n.*2476G>T)
c.2579G>T (p.Gly860Val)
c.*1062G>T (n.*1062G>T)
c.*2586G>T (n.*2586G>T)
c.2336G>T (p.Gly779Val)
c.353G>T (p.Gly118Val)
c.412G>T
c.1544G>T (p.Gly515Val)
c.2672G>T (p.Gly891Val)
c.2852G>T (p.Gly951Val)
c.2519G>T (p.Gly840Val)
 ClinVar dbSNP
7g.117603637_117603638dupCA326920CFTRc.2763_2764dup (p.Val922GlufsTer2)
c.*2477_*2478dup (n.*2477_*2478dup)
c.2580_2581dup (p.Val861GlufsTer2)
c.*1063_*1064dup (n.*1063_*1064dup)
c.*2587_*2588dup (n.*2587_*2588dup)
c.2337_2338dup (p.Val780GlufsTer2)
c.354_355dup (p.Val119GlufsTer2)
c.413_414dup
c.1545_1546dup (p.Val516GlufsTer2)
c.2673_2674dup (p.Val892GlufsTer2)
c.2853_2854dup (p.Val952GlufsTer2)
c.2520_2521dup (p.Val841GlufsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603637A>CCA457227955CFTRc.2763A>C (p.Gly921=)
c.*2477A>C (n.*2477A>C)
c.2580A>C (p.Gly860=)
c.*1063A>C (n.*1063A>C)
c.*2587A>C (n.*2587A>C)
c.2337A>C (p.Gly779=)
c.354A>C (p.Gly118=)
c.413A>C
c.1545A>C (p.Gly515=)
c.2673A>C (p.Gly891=)
c.2853A>C (p.Gly951=)
c.2520A>C (p.Gly840=)
7g.117603637A>GCA457227956CFTRc.2763A>G (p.Gly921=)
c.*2477A>G (n.*2477A>G)
c.2580A>G (p.Gly860=)
c.*1063A>G (n.*1063A>G)
c.*2587A>G (n.*2587A>G)
c.2337A>G (p.Gly779=)
c.354A>G (p.Gly118=)
c.413A>G
c.1545A>G (p.Gly515=)
c.2673A>G (p.Gly891=)
c.2853A>G (p.Gly951=)
c.2520A>G (p.Gly840=)
7g.117603637A>TCA457227957CFTRc.2763A>T (p.Gly921=)
c.*2477A>T (n.*2477A>T)
c.2580A>T (p.Gly860=)
c.*1063A>T (n.*1063A>T)
c.*2587A>T (n.*2587A>T)
c.2337A>T (p.Gly779=)
c.354A>T (p.Gly118=)
c.413A>T
c.1545A>T (p.Gly515=)
c.2673A>T (p.Gly891=)
c.2853A>T (p.Gly951=)
c.2520A>T (p.Gly840=)
7g.117603638G>ACA368986694CFTRc.2764G>A (p.Val922Ile)
c.*2478G>A (n.*2478G>A)
c.2581G>A (p.Val861Ile)
c.*1064G>A (n.*1064G>A)
c.*2588G>A (n.*2588G>A)
c.2338G>A (p.Val780Ile)
c.355G>A (p.Val119Ile)
c.414G>A
c.1546G>A (p.Val516Ile)
c.2674G>A (p.Val892Ile)
c.2854G>A (p.Val952Ile)
c.2521G>A (p.Val841Ile)
 ClinVar dbSNP COSMIC
7g.117603638G>CCA368986689CFTRc.2764G>C (p.Val922Leu)
c.*2478G>C (n.*2478G>C)
c.2581G>C (p.Val861Leu)
c.*1064G>C (n.*1064G>C)
c.*2588G>C (n.*2588G>C)
c.2338G>C (p.Val780Leu)
c.355G>C (p.Val119Leu)
c.414G>C
c.1546G>C (p.Val516Leu)
c.2674G>C (p.Val892Leu)
c.2854G>C (p.Val952Leu)
c.2521G>C (p.Val841Leu)
 ClinVar gnomAD v4
7g.117603638G=CA1737374900CFTRc.2764G= (p.Val922=)
c.*2478G= (n.*2478G=)
c.2581G= (p.Val861=)
c.*1064G= (n.*1064G=)
c.*2588G= (n.*2588G=)
c.2338G= (p.Val780=)
c.355G= (p.Val119=)
c.414G=
c.1546G= (p.Val516=)
c.2674G= (p.Val892=)
c.2854G= (p.Val952=)
c.2521G= (p.Val841=)
7g.117603638G>TCA368986692CFTRc.2764G>T (p.Val922Leu)
c.*2478G>T (n.*2478G>T)
c.2581G>T (p.Val861Leu)
c.*1064G>T (n.*1064G>T)
c.*2588G>T (n.*2588G>T)
c.2338G>T (p.Val780Leu)
c.355G>T (p.Val119Leu)
c.414G>T
c.1546G>T (p.Val516Leu)
c.2674G>T (p.Val892Leu)
c.2854G>T (p.Val952Leu)
c.2521G>T (p.Val841Leu)
7g.117603639T>ACA368986697CFTRc.2765T>A (p.Val922Glu)
c.*2479T>A (n.*2479T>A)
c.2582T>A (p.Val861Glu)
c.*1065T>A (n.*1065T>A)
c.*2589T>A (n.*2589T>A)
c.2339T>A (p.Val780Glu)
c.356T>A (p.Val119Glu)
c.415T>A
c.1547T>A (p.Val516Glu)
c.2675T>A (p.Val892Glu)
c.2855T>A (p.Val952Glu)
c.2522T>A (p.Val841Glu)
7g.117603639T>CCA368986699CFTRc.2765T>C (p.Val922Ala)
c.*2479T>C (n.*2479T>C)
c.2582T>C (p.Val861Ala)
c.*1065T>C (n.*1065T>C)
c.*2589T>C (n.*2589T>C)
c.2339T>C (p.Val780Ala)
c.356T>C (p.Val119Ala)
c.415T>C
c.1547T>C (p.Val516Ala)
c.2675T>C (p.Val892Ala)
c.2855T>C (p.Val952Ala)
c.2522T>C (p.Val841Ala)
7g.117603639T>GCA368986702CFTRc.2765T>G (p.Val922Gly)
c.*2479T>G (n.*2479T>G)
c.2582T>G (p.Val861Gly)
c.*1065T>G (n.*1065T>G)
c.*2589T>G (n.*2589T>G)
c.2339T>G (p.Val780Gly)
c.356T>G (p.Val119Gly)
c.415T>G
c.1547T>G (p.Val516Gly)
c.2675T>G (p.Val892Gly)
c.2855T>G (p.Val952Gly)
c.2522T>G (p.Val841Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.117603639T=CA1737374907CFTRc.2765T= (p.Val922=)
c.*2479T= (n.*2479T=)
c.2582T= (p.Val861=)
c.*1065T= (n.*1065T=)
c.*2589T= (n.*2589T=)
c.2339T= (p.Val780=)
c.356T= (p.Val119=)
c.415T=
c.1547T= (p.Val516=)
c.2675T= (p.Val892=)
c.2855T= (p.Val952=)
c.2522T= (p.Val841=)
7g.117603640A=CA1737374915CFTRc.2766A= (p.Val922=)
c.*2480A= (n.*2480A=)
c.2583A= (p.Val861=)
c.*1066A= (n.*1066A=)
c.*2590A= (n.*2590A=)
c.2340A= (p.Val780=)
c.357A= (p.Val119=)
c.416A=
c.1548A= (p.Val516=)
c.2676A= (p.Val892=)
c.2856A= (p.Val952=)
c.2523A= (p.Val841=)
7g.117603640A>CCA457227958CFTRc.2766A>C (p.Val922=)
c.*2480A>C (n.*2480A>C)
c.2583A>C (p.Val861=)
c.*1066A>C (n.*1066A>C)
c.*2590A>C (n.*2590A>C)
c.2340A>C (p.Val780=)
c.357A>C (p.Val119=)
c.416A>C
c.1548A>C (p.Val516=)
c.2676A>C (p.Val892=)
c.2856A>C (p.Val952=)
c.2523A>C (p.Val841=)
7g.117603640A>GCA4451285CFTRc.2766A>G (p.Val922=)
c.*2480A>G (n.*2480A>G)
c.2583A>G (p.Val861=)
c.*1066A>G (n.*1066A>G)
c.*2590A>G (n.*2590A>G)
c.2340A>G (p.Val780=)
c.357A>G (p.Val119=)
c.416A>G
c.1548A>G (p.Val516=)
c.2676A>G (p.Val892=)
c.2856A>G (p.Val952=)
c.2523A>G (p.Val841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603640A>TCA457227959CFTRc.2766A>T (p.Val922=)
c.*2480A>T (n.*2480A>T)
c.2583A>T (p.Val861=)
c.*1066A>T (n.*1066A>T)
c.*2590A>T (n.*2590A>T)
c.2340A>T (p.Val780=)
c.357A>T (p.Val119=)
c.416A>T
c.1548A>T (p.Val516=)
c.2676A>T (p.Val892=)
c.2856A>T (p.Val952=)
c.2523A>T (p.Val841=)
7g.117603641G>ACA368986708CFTRc.2767G>A (p.Ala923Thr)
c.*2481G>A (n.*2481G>A)
c.2584G>A (p.Ala862Thr)
c.*1067G>A (n.*1067G>A)
c.*2591G>A (n.*2591G>A)
c.2341G>A (p.Ala781Thr)
c.358G>A (p.Ala120Thr)
c.417G>A
c.1549G>A (p.Ala517Thr)
c.2677G>A (p.Ala893Thr)
c.2857G>A (p.Ala953Thr)
c.2524G>A (p.Ala842Thr)
7g.117603641G>CCA368986710CFTRc.2767G>C (p.Ala923Pro)
c.*2481G>C (n.*2481G>C)
c.2584G>C (p.Ala862Pro)
c.*1067G>C (n.*1067G>C)
c.*2591G>C (n.*2591G>C)
c.2341G>C (p.Ala781Pro)
c.358G>C (p.Ala120Pro)
c.417G>C
c.1549G>C (p.Ala517Pro)
c.2677G>C (p.Ala893Pro)
c.2857G>C (p.Ala953Pro)
c.2524G>C (p.Ala842Pro)
7g.117603641G>TCA368986713CFTRc.2767G>T (p.Ala923Ser)
c.*2481G>T (n.*2481G>T)
c.2584G>T (p.Ala862Ser)
c.*1067G>T (n.*1067G>T)
c.*2591G>T (n.*2591G>T)
c.2341G>T (p.Ala781Ser)
c.358G>T (p.Ala120Ser)
c.417G>T
c.1549G>T (p.Ala517Ser)
c.2677G>T (p.Ala893Ser)
c.2857G>T (p.Ala953Ser)
c.2524G>T (p.Ala842Ser)
7g.117603642C>ACA260222CFTRc.2768C>A (p.Ala923Asp)
c.*2482C>A (n.*2482C>A)
c.2585C>A (p.Ala862Asp)
c.*1068C>A (n.*1068C>A)
c.*2592C>A (n.*2592C>A)
c.2342C>A (p.Ala781Asp)
c.359C>A (p.Ala120Asp)
c.418C>A
c.1550C>A (p.Ala517Asp)
c.2678C>A (p.Ala893Asp)
c.2858C>A (p.Ala953Asp)
c.2525C>A (p.Ala842Asp)
 ClinVar dbSNP
7g.117603642C=CA1737374927CFTRc.2768C= (p.Ala923=)
c.*2482C= (n.*2482C=)
c.2585C= (p.Ala862=)
c.*1068C= (n.*1068C=)
c.*2592C= (n.*2592C=)
c.2342C= (p.Ala781=)
c.359C= (p.Ala120=)
c.418C=
c.1550C= (p.Ala517=)
c.2678C= (p.Ala893=)
c.2858C= (p.Ala953=)
c.2525C= (p.Ala842=)
7g.117603642C>GCA368986716CFTRc.2768C>G (p.Ala923Gly)
c.*2482C>G (n.*2482C>G)
c.2585C>G (p.Ala862Gly)
c.*1068C>G (n.*1068C>G)
c.*2592C>G (n.*2592C>G)
c.2342C>G (p.Ala781Gly)
c.359C>G (p.Ala120Gly)
c.418C>G
c.1550C>G (p.Ala517Gly)
c.2678C>G (p.Ala893Gly)
c.2858C>G (p.Ala953Gly)
c.2525C>G (p.Ala842Gly)
 gnomAD v4
7g.117603642C>TCA368986719CFTRc.2768C>T (p.Ala923Val)
c.*2482C>T (n.*2482C>T)
c.2585C>T (p.Ala862Val)
c.*1068C>T (n.*1068C>T)
c.*2592C>T (n.*2592C>T)
c.2342C>T (p.Ala781Val)
c.359C>T (p.Ala120Val)
c.418C>T
c.1550C>T (p.Ala517Val)
c.2678C>T (p.Ala893Val)
c.2858C>T (p.Ala953Val)
c.2525C>T (p.Ala842Val)
7g.117603643C>ACA457227960CFTRc.2769C>A (p.Ala923=)
c.*2483C>A (n.*2483C>A)
c.2586C>A (p.Ala862=)
c.*1069C>A (n.*1069C>A)
c.*2593C>A (n.*2593C>A)
c.2343C>A (p.Ala781=)
c.360C>A (p.Ala120=)
c.419C>A
c.1551C>A (p.Ala517=)
c.2679C>A (p.Ala893=)
c.2859C>A (p.Ala953=)
c.2526C>A (p.Ala842=)
7g.117603643C=CA1737374934CFTRc.2769C= (p.Ala923=)
c.*2483C= (n.*2483C=)
c.2586C= (p.Ala862=)
c.*1069C= (n.*1069C=)
c.*2593C= (n.*2593C=)
c.2343C= (p.Ala781=)
c.360C= (p.Ala120=)
c.419C=
c.1551C= (p.Ala517=)
c.2679C= (p.Ala893=)
c.2859C= (p.Ala953=)
c.2526C= (p.Ala842=)
7g.117603643C>GCA457227961CFTRc.2769C>G (p.Ala923=)
c.*2483C>G (n.*2483C>G)
c.2586C>G (p.Ala862=)
c.*1069C>G (n.*1069C>G)
c.*2593C>G (n.*2593C>G)
c.2343C>G (p.Ala781=)
c.360C>G (p.Ala120=)
c.419C>G
c.1551C>G (p.Ala517=)
c.2679C>G (p.Ala893=)
c.2859C>G (p.Ala953=)
c.2526C>G (p.Ala842=)
7g.117603643C>TCA221014CFTRc.2769C>T (p.Ala923=)
c.*2483C>T (n.*2483C>T)
c.2586C>T (p.Ala862=)
c.*1069C>T (n.*1069C>T)
c.*2593C>T (n.*2593C>T)
c.2343C>T (p.Ala781=)
c.360C>T (p.Ala120=)
c.419C>T
c.1551C>T (p.Ala517=)
c.2679C>T (p.Ala893=)
c.2859C>T (p.Ala953=)
c.2526C>T (p.Ala842=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603644G>ACA326923CFTRc.2770G>A (p.Asp924Asn)
c.*2484G>A (n.*2484G>A)
c.2587G>A (p.Asp863Asn)
c.*1070G>A (n.*1070G>A)
c.*2594G>A (n.*2594G>A)
c.2344G>A (p.Asp782Asn)
c.361G>A (p.Asp121Asn)
c.420G>A
c.1552G>A (p.Asp518Asn)
c.2680G>A (p.Asp894Asn)
c.2860G>A (p.Asp954Asn)
c.2527G>A (p.Asp843Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117603644G>CCA368986725CFTRc.2770G>C (p.Asp924His)
c.*2484G>C (n.*2484G>C)
c.2587G>C (p.Asp863His)
c.*1070G>C (n.*1070G>C)
c.*2594G>C (n.*2594G>C)
c.2344G>C (p.Asp782His)
c.361G>C (p.Asp121His)
c.420G>C
c.1552G>C (p.Asp518His)
c.2680G>C (p.Asp894His)
c.2860G>C (p.Asp954His)
c.2527G>C (p.Asp843His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603644G=CA1737374942CFTRc.2770G= (p.Asp924=)
c.*2484G= (n.*2484G=)
c.2587G= (p.Asp863=)
c.*1070G= (n.*1070G=)
c.*2594G= (n.*2594G=)
c.2344G= (p.Asp782=)
c.361G= (p.Asp121=)
c.420G=
c.1552G= (p.Asp518=)
c.2680G= (p.Asp894=)
c.2860G= (p.Asp954=)
c.2527G= (p.Asp843=)
7g.117603644G>TCA368986723CFTRc.2770G>T (p.Asp924Tyr)
c.*2484G>T (n.*2484G>T)
c.2587G>T (p.Asp863Tyr)
c.*1070G>T (n.*1070G>T)
c.*2594G>T (n.*2594G>T)
c.2344G>T (p.Asp782Tyr)
c.361G>T (p.Asp121Tyr)
c.420G>T
c.1552G>T (p.Asp518Tyr)
c.2680G>T (p.Asp894Tyr)
c.2860G>T (p.Asp954Tyr)
c.2527G>T (p.Asp843Tyr)
 gnomAD v4
7g.117603645A>CCA368986727CFTRc.2771A>C (p.Asp924Ala)
c.*2485A>C (n.*2485A>C)
c.2588A>C (p.Asp863Ala)
c.*1071A>C (n.*1071A>C)
c.*2595A>C (n.*2595A>C)
c.2345A>C (p.Asp782Ala)
c.362A>C (p.Asp121Ala)
c.421A>C
c.1553A>C (p.Asp518Ala)
c.2681A>C (p.Asp894Ala)
c.2861A>C (p.Asp954Ala)
c.2528A>C (p.Asp843Ala)
7g.117603645A>GCA368986729CFTRc.2771A>G (p.Asp924Gly)
c.*2485A>G (n.*2485A>G)
c.2588A>G (p.Asp863Gly)
c.*1071A>G (n.*1071A>G)
c.*2595A>G (n.*2595A>G)
c.2345A>G (p.Asp782Gly)
c.362A>G (p.Asp121Gly)
c.421A>G
c.1553A>G (p.Asp518Gly)
c.2681A>G (p.Asp894Gly)
c.2861A>G (p.Asp954Gly)
c.2528A>G (p.Asp843Gly)
 COSMIC
7g.117603645A>TCA368986731CFTRc.2771A>T (p.Asp924Val)
c.*2485A>T (n.*2485A>T)
c.2588A>T (p.Asp863Val)
c.*1071A>T (n.*1071A>T)
c.*2595A>T (n.*2595A>T)
c.2345A>T (p.Asp782Val)
c.362A>T (p.Asp121Val)
c.421A>T
c.1553A>T (p.Asp518Val)
c.2681A>T (p.Asp894Val)
c.2861A>T (p.Asp954Val)
c.2528A>T (p.Asp843Val)
7g.117603646C>ACA368986737CFTRc.2772C>A (p.Asp924Glu)
c.*2486C>A (n.*2486C>A)
c.2589C>A (p.Asp863Glu)
c.*1072C>A (n.*1072C>A)
c.*2596C>A (n.*2596C>A)
c.2346C>A (p.Asp782Glu)
c.363C>A (p.Asp121Glu)
c.422C>A
c.1554C>A (p.Asp518Glu)
c.2682C>A (p.Asp894Glu)
c.2862C>A (p.Asp954Glu)
c.2529C>A (p.Asp843Glu)
 ClinVar dbSNP COSMIC
7g.117603646C=CA1737374962CFTRc.2772C= (p.Asp924=)
c.*2486C= (n.*2486C=)
c.2589C= (p.Asp863=)
c.*1072C= (n.*1072C=)
c.*2596C= (n.*2596C=)
c.2346C= (p.Asp782=)
c.363C= (p.Asp121=)
c.422C=
c.1554C= (p.Asp518=)
c.2682C= (p.Asp894=)
c.2862C= (p.Asp954=)
c.2529C= (p.Asp843=)
7g.117603646C>GCA368986740CFTRc.2772C>G (p.Asp924Glu)
c.*2486C>G (n.*2486C>G)
c.2589C>G (p.Asp863Glu)
c.*1072C>G (n.*1072C>G)
c.*2596C>G (n.*2596C>G)
c.2346C>G (p.Asp782Glu)
c.363C>G (p.Asp121Glu)
c.422C>G
c.1554C>G (p.Asp518Glu)
c.2682C>G (p.Asp894Glu)
c.2862C>G (p.Asp954Glu)
c.2529C>G (p.Asp843Glu)
7g.117603646C>TCA457227962CFTRc.2772C>T (p.Asp924=)
c.*2486C>T (n.*2486C>T)
c.2589C>T (p.Asp863=)
c.*1072C>T (n.*1072C>T)
c.*2596C>T (n.*2596C>T)
c.2346C>T (p.Asp782=)
c.363C>T (p.Asp121=)
c.422C>T
c.1554C>T (p.Asp518=)
c.2682C>T (p.Asp894=)
c.2862C>T (p.Asp954=)
c.2529C>T (p.Asp843=)
 ClinVar dbSNP gnomAD v4
7g.117603647A=CA1737374972CFTRc.2773A= (p.Thr925=)
c.*2487A= (n.*2487A=)
c.2590A= (p.Thr864=)
c.*1073A= (n.*1073A=)
c.*2597A= (n.*2597A=)
c.2347A= (p.Thr783=)
c.364A= (p.Thr122=)
c.423A=
c.1555A= (p.Thr519=)
c.2683A= (p.Thr895=)
c.2863A= (p.Thr955=)
c.2530A= (p.Thr844=)
7g.117603647A>CCA368986742CFTRc.2773A>C (p.Thr925Pro)
c.*2487A>C (n.*2487A>C)
c.2590A>C (p.Thr864Pro)
c.*1073A>C (n.*1073A>C)
c.*2597A>C (n.*2597A>C)
c.2347A>C (p.Thr783Pro)
c.364A>C (p.Thr122Pro)
c.423A>C
c.1555A>C (p.Thr519Pro)
c.2683A>C (p.Thr895Pro)
c.2863A>C (p.Thr955Pro)
c.2530A>C (p.Thr844Pro)
7g.117603647A>GCA368986746CFTRc.2773A>G (p.Thr925Ala)
c.*2487A>G (n.*2487A>G)
c.2590A>G (p.Thr864Ala)
c.*1073A>G (n.*1073A>G)
c.*2597A>G (n.*2597A>G)
c.2347A>G (p.Thr783Ala)
c.364A>G (p.Thr122Ala)
c.423A>G
c.1555A>G (p.Thr519Ala)
c.2683A>G (p.Thr895Ala)
c.2863A>G (p.Thr955Ala)
c.2530A>G (p.Thr844Ala)
 ClinVar dbSNP gnomAD v4
7g.117603647A>TCA368986749CFTRc.2773A>T (p.Thr925Ser)
c.*2487A>T (n.*2487A>T)
c.2590A>T (p.Thr864Ser)
c.*1073A>T (n.*1073A>T)
c.*2597A>T (n.*2597A>T)
c.2347A>T (p.Thr783Ser)
c.364A>T (p.Thr122Ser)
c.423A>T
c.1555A>T (p.Thr519Ser)
c.2683A>T (p.Thr895Ser)
c.2863A>T (p.Thr955Ser)
c.2530A>T (p.Thr844Ser)
7g.117603648C>ACA368986752CFTRc.2774C>A (p.Thr925Asn)
c.*2488C>A (n.*2488C>A)
c.2591C>A (p.Thr864Asn)
c.*1074C>A (n.*1074C>A)
c.*2598C>A (n.*2598C>A)
c.2348C>A (p.Thr783Asn)
c.365C>A (p.Thr122Asn)
c.424C>A
c.1556C>A (p.Thr519Asn)
c.2684C>A (p.Thr895Asn)
c.2864C>A (p.Thr955Asn)
c.2531C>A (p.Thr844Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603648C=CA1737374982CFTRc.2774C= (p.Thr925=)
c.*2488C= (n.*2488C=)
c.2591C= (p.Thr864=)
c.*1074C= (n.*1074C=)
c.*2598C= (n.*2598C=)
c.2348C= (p.Thr783=)
c.365C= (p.Thr122=)
c.424C=
c.1556C= (p.Thr519=)
c.2684C= (p.Thr895=)
c.2864C= (p.Thr955=)
c.2531C= (p.Thr844=)
7g.117603648C>GCA368986755CFTRc.2774C>G (p.Thr925Ser)
c.*2488C>G (n.*2488C>G)
c.2591C>G (p.Thr864Ser)
c.*1074C>G (n.*1074C>G)
c.*2598C>G (n.*2598C>G)
c.2348C>G (p.Thr783Ser)
c.365C>G (p.Thr122Ser)
c.424C>G
c.1556C>G (p.Thr519Ser)
c.2684C>G (p.Thr895Ser)
c.2864C>G (p.Thr955Ser)
c.2531C>G (p.Thr844Ser)
 ClinVar gnomAD v4
7g.117603648C>TCA164960163CFTRc.2774C>T (p.Thr925Ile)
c.*2488C>T (n.*2488C>T)
c.2591C>T (p.Thr864Ile)
c.*1074C>T (n.*1074C>T)
c.*2598C>T (n.*2598C>T)
c.2348C>T (p.Thr783Ile)
c.365C>T (p.Thr122Ile)
c.424C>T
c.1556C>T (p.Thr519Ile)
c.2684C>T (p.Thr895Ile)
c.2864C>T (p.Thr955Ile)
c.2531C>T (p.Thr844Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603648dupCA2579000253CFTRc.2774dup (p.Leu926PhefsTer?)
c.*2488dup (n.*2488dup)
c.2591dup (p.Leu865PhefsTer?)
c.*1074dup (n.*1074dup)
c.*2598dup (n.*2598dup)
c.2348dup (p.Leu784PhefsTer?)
c.365dup (p.Leu123PhefsTer?)
c.424dup
c.1556dup (p.Leu520PhefsTer?)
c.2684dup (p.Leu896PhefsTer?)
c.2864dup (p.Leu956PhefsTer?)
c.2531dup (p.Leu845PhefsTer?)
7g.117603648_117603650delinsCTTCA1737374978CFTRc.2774_2776delinsCTT (p.Thr925=)
c.*2488_*2490delinsCTT (n.*2488_*2490delinsCTT)
c.2591_2593delinsCTT (p.Thr864=)
c.*1074_*1076delinsCTT (n.*1074_*1076delinsCTT)
c.*2598_*2600delinsCTT (n.*2598_*2600delinsCTT)
c.2348_2350delinsCTT (p.Thr783=)
c.365_367delinsCTT (p.Thr122=)
c.424_426delinsCTT
c.1556_1558delinsCTT (p.Thr519=)
c.2684_2686delinsCTT (p.Thr895=)
c.2864_2866delinsCTT (p.Thr955=)
c.2531_2533delinsCTT (p.Thr844=)
7g.117603649T>ACA457227963CFTRc.2775T>A (p.Thr925=)
c.*2489T>A (n.*2489T>A)
c.2592T>A (p.Thr864=)
c.*1075T>A (n.*1075T>A)
c.*2599T>A (n.*2599T>A)
c.2349T>A (p.Thr783=)
c.366T>A (p.Thr122=)
c.425T>A
c.1557T>A (p.Thr519=)
c.2685T>A (p.Thr895=)
c.2865T>A (p.Thr955=)
c.2532T>A (p.Thr844=)
7g.117603649T>CCA457227964CFTRc.2775T>C (p.Thr925=)
c.*2489T>C (n.*2489T>C)
c.2592T>C (p.Thr864=)
c.*1075T>C (n.*1075T>C)
c.*2599T>C (n.*2599T>C)
c.2349T>C (p.Thr783=)
c.366T>C (p.Thr122=)
c.425T>C
c.1557T>C (p.Thr519=)
c.2685T>C (p.Thr895=)
c.2865T>C (p.Thr955=)
c.2532T>C (p.Thr844=)
7g.117603649T>GCA457227965CFTRc.2775T>G (p.Thr925=)
c.*2489T>G (n.*2489T>G)
c.2592T>G (p.Thr864=)
c.*1075T>G (n.*1075T>G)
c.*2599T>G (n.*2599T>G)
c.2349T>G (p.Thr783=)
c.366T>G (p.Thr122=)
c.425T>G
c.1557T>G (p.Thr519=)
c.2685T>G (p.Thr895=)
c.2865T>G (p.Thr955=)
c.2532T>G (p.Thr844=)
7g.117603651delCA326926CFTRc.2777del (p.Leu926CysfsTer16)
c.*2491del (n.*2491del)
c.2594del (p.Leu865CysfsTer16)
c.*1077del (n.*1077del)
c.*2601del (n.*2601del)
c.2351del (p.Leu784CysfsTer16)
c.368del (p.Leu123CysfsTer16)
c.427del
c.1559del (p.Leu520CysfsTer16)
c.2687del (p.Leu896CysfsTer16)
c.2867del (p.Leu956CysfsTer16)
c.2534del (p.Leu845CysfsTer16)
 ClinVar dbSNP
7g.117603650_117603651delCA326925CFTRc.2776_2777del (p.Leu926AlafsTer?)
c.*2490_*2491del (n.*2490_*2491del)
c.2593_2594del (p.Leu865AlafsTer?)
c.*1076_*1077del (n.*1076_*1077del)
c.*2600_*2601del (n.*2600_*2601del)
c.2350_2351del (p.Leu784AlafsTer?)
c.367_368del (p.Leu123AlafsTer?)
c.426_427del
c.1558_1559del (p.Leu520AlafsTer?)
c.2686_2687del (p.Leu896AlafsTer?)
c.2866_2867del (p.Leu956AlafsTer?)
c.2533_2534del (p.Leu845AlafsTer?)
 ClinVar dbSNP
7g.117603650T>ACA368986762CFTRc.2776T>A (p.Leu926Met)
c.*2490T>A (n.*2490T>A)
c.2593T>A (p.Leu865Met)
c.*1076T>A (n.*1076T>A)
c.*2600T>A (n.*2600T>A)
c.2350T>A (p.Leu784Met)
c.367T>A (p.Leu123Met)
c.426T>A
c.1558T>A (p.Leu520Met)
c.2686T>A (p.Leu896Met)
c.2866T>A (p.Leu956Met)
c.2533T>A (p.Leu845Met)
7g.117603650T>CCA457227966CFTRc.2776T>C (p.Leu926=)
c.*2490T>C (n.*2490T>C)
c.2593T>C (p.Leu865=)
c.*1076T>C (n.*1076T>C)
c.*2600T>C (n.*2600T>C)
c.2350T>C (p.Leu784=)
c.367T>C (p.Leu123=)
c.426T>C
c.1558T>C (p.Leu520=)
c.2686T>C (p.Leu896=)
c.2866T>C (p.Leu956=)
c.2533T>C (p.Leu845=)
 gnomAD v3 gnomAD v4
7g.117603650T>GCA368986764CFTRc.2776T>G (p.Leu926Val)
c.*2490T>G (n.*2490T>G)
c.2593T>G (p.Leu865Val)
c.*1076T>G (n.*1076T>G)
c.*2600T>G (n.*2600T>G)
c.2350T>G (p.Leu784Val)
c.367T>G (p.Leu123Val)
c.426T>G
c.1558T>G (p.Leu520Val)
c.2686T>G (p.Leu896Val)
c.2866T>G (p.Leu956Val)
c.2533T>G (p.Leu845Val)
7g.117603651T>ACA368986768CFTRc.2777T>A (p.Leu926Ter)
c.*2491T>A (n.*2491T>A)
c.2594T>A (p.Leu865Ter)
c.*1077T>A (n.*1077T>A)
c.*2601T>A (n.*2601T>A)
c.2351T>A (p.Leu784Ter)
c.368T>A (p.Leu123Ter)
c.427T>A
c.1559T>A (p.Leu520Ter)
c.2687T>A (p.Leu896Ter)
c.2867T>A (p.Leu956Ter)
c.2534T>A (p.Leu845Ter)
7g.117603651T>CCA4451286CFTRc.2777T>C (p.Leu926Ser)
c.*2491T>C (n.*2491T>C)
c.2594T>C (p.Leu865Ser)
c.*1077T>C (n.*1077T>C)
c.*2601T>C (n.*2601T>C)
c.2351T>C (p.Leu784Ser)
c.368T>C (p.Leu123Ser)
c.427T>C
c.1559T>C (p.Leu520Ser)
c.2687T>C (p.Leu896Ser)
c.2867T>C (p.Leu956Ser)
c.2534T>C (p.Leu845Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603651T>GCA368986771CFTRc.2777T>G (p.Leu926Trp)
c.*2491T>G (n.*2491T>G)
c.2594T>G (p.Leu865Trp)
c.*1077T>G (n.*1077T>G)
c.*2601T>G (n.*2601T>G)
c.2351T>G (p.Leu784Trp)
c.368T>G (p.Leu123Trp)
c.427T>G
c.1559T>G (p.Leu520Trp)
c.2687T>G (p.Leu896Trp)
c.2867T>G (p.Leu956Trp)
c.2534T>G (p.Leu845Trp)
7g.117603651T=CA1737375014CFTRc.2777T= (p.Leu926=)
c.*2491T= (n.*2491T=)
c.2594T= (p.Leu865=)
c.*1077T= (n.*1077T=)
c.*2601T= (n.*2601T=)
c.2351T= (p.Leu784=)
c.368T= (p.Leu123=)
c.427T=
c.1559T= (p.Leu520=)
c.2687T= (p.Leu896=)
c.2867T= (p.Leu956=)
c.2534T= (p.Leu845=)
7g.117603652G>ACA457227967CFTRc.2778G>A (p.Leu926=)
c.*2492G>A (n.*2492G>A)
c.2595G>A (p.Leu865=)
c.*1078G>A (n.*1078G>A)
c.*2602G>A (n.*2602G>A)
c.2352G>A (p.Leu784=)
c.369G>A (p.Leu123=)
c.428G>A
c.1560G>A (p.Leu520=)
c.2688G>A (p.Leu896=)
c.2868G>A (p.Leu956=)
c.2535G>A (p.Leu845=)
 dbSNP gnomAD v4
7g.117603652G>CCA368986774CFTRc.2778G>C (p.Leu926Phe)
c.*2492G>C (n.*2492G>C)
c.2595G>C (p.Leu865Phe)
c.*1078G>C (n.*1078G>C)
c.*2602G>C (n.*2602G>C)
c.2352G>C (p.Leu784Phe)
c.369G>C (p.Leu123Phe)
c.428G>C
c.1560G>C (p.Leu520Phe)
c.2688G>C (p.Leu896Phe)
c.2868G>C (p.Leu956Phe)
c.2535G>C (p.Leu845Phe)
7g.117603652G=CA1737375019CFTRc.2778G= (p.Leu926=)
c.*2492G= (n.*2492G=)
c.2595G= (p.Leu865=)
c.*1078G= (n.*1078G=)
c.*2602G= (n.*2602G=)
c.2352G= (p.Leu784=)
c.369G= (p.Leu123=)
c.428G=
c.1560G= (p.Leu520=)
c.2688G= (p.Leu896=)
c.2868G= (p.Leu956=)
c.2535G= (p.Leu845=)
7g.117603652G>TCA4451287CFTRc.2778G>T (p.Leu926Phe)
c.*2492G>T (n.*2492G>T)
c.2595G>T (p.Leu865Phe)
c.*1078G>T (n.*1078G>T)
c.*2602G>T (n.*2602G>T)
c.2352G>T (p.Leu784Phe)
c.369G>T (p.Leu123Phe)
c.428G>T
c.1560G>T (p.Leu520Phe)
c.2688G>T (p.Leu896Phe)
c.2868G>T (p.Leu956Phe)
c.2535G>T (p.Leu845Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603653_117603662dupCA2695208419CFTRc.2779_2788dup (p.Gly930AlafsTer?)
c.*2493_*2502dup (n.*2493_*2502dup)
c.2596_2605dup (p.Gly869AlafsTer?)
c.*1079_*1088dup (n.*1079_*1088dup)
c.*2603_*2612dup (n.*2603_*2612dup)
c.2353_2362dup (p.Gly788AlafsTer?)
c.370_379dup (p.Gly127AlafsTer?)
c.429_438dup
c.1561_1570dup (p.Gly524AlafsTer?)
c.2689_2698dup (p.Gly900AlafsTer?)
c.2869_2878dup (p.Gly960AlafsTer?)
c.2536_2545dup (p.Gly849AlafsTer?)
7g.117603653C>ACA368986787CFTRc.2779C>A (p.Leu927Ile)
c.*2493C>A (n.*2493C>A)
c.2596C>A (p.Leu866Ile)
c.*1079C>A (n.*1079C>A)
c.*2603C>A (n.*2603C>A)
c.2353C>A (p.Leu785Ile)
c.370C>A (p.Leu124Ile)
c.429C>A
c.1561C>A (p.Leu521Ile)
c.2689C>A (p.Leu897Ile)
c.2869C>A (p.Leu957Ile)
c.2536C>A (p.Leu846Ile)
7g.117603653C>GCA368986783CFTRc.2779C>G (p.Leu927Val)
c.*2493C>G (n.*2493C>G)
c.2596C>G (p.Leu866Val)
c.*1079C>G (n.*1079C>G)
c.*2603C>G (n.*2603C>G)
c.2353C>G (p.Leu785Val)
c.370C>G (p.Leu124Val)
c.429C>G
c.1561C>G (p.Leu521Val)
c.2689C>G (p.Leu897Val)
c.2869C>G (p.Leu957Val)
c.2536C>G (p.Leu846Val)
7g.117603653C>TCA368986779CFTRc.2779C>T (p.Leu927Phe)
c.*2493C>T (n.*2493C>T)
c.2596C>T (p.Leu866Phe)
c.*1079C>T (n.*1079C>T)
c.*2603C>T (n.*2603C>T)
c.2353C>T (p.Leu785Phe)
c.370C>T (p.Leu124Phe)
c.429C>T
c.1561C>T (p.Leu521Phe)
c.2689C>T (p.Leu897Phe)
c.2869C>T (p.Leu957Phe)
c.2536C>T (p.Leu846Phe)
7g.117603654T>ACA368986791CFTRc.2780T>A (p.Leu927His)
c.*2494T>A (n.*2494T>A)
c.2597T>A (p.Leu866His)
c.*1080T>A (n.*1080T>A)
c.*2604T>A (n.*2604T>A)
c.2354T>A (p.Leu785His)
c.371T>A (p.Leu124His)
c.430T>A
c.1562T>A (p.Leu521His)
c.2690T>A (p.Leu897His)
c.2870T>A (p.Leu957His)
c.2537T>A (p.Leu846His)
 dbSNP gnomAD v3 gnomAD v4
7g.117603654T>CCA328107CFTRc.2780T>C (p.Leu927Pro)
c.*2494T>C (n.*2494T>C)
c.2597T>C (p.Leu866Pro)
c.*1080T>C (n.*1080T>C)
c.*2604T>C (n.*2604T>C)
c.2354T>C (p.Leu785Pro)
c.371T>C (p.Leu124Pro)
c.430T>C
c.1562T>C (p.Leu521Pro)
c.2690T>C (p.Leu897Pro)
c.2870T>C (p.Leu957Pro)
c.2537T>C (p.Leu846Pro)
 ClinVar dbSNP gnomAD v4
7g.117603654T>GCA368986796CFTRc.2780T>G (p.Leu927Arg)
c.*2494T>G (n.*2494T>G)
c.2597T>G (p.Leu866Arg)
c.*1080T>G (n.*1080T>G)
c.*2604T>G (n.*2604T>G)
c.2354T>G (p.Leu785Arg)
c.371T>G (p.Leu124Arg)
c.430T>G
c.1562T>G (p.Leu521Arg)
c.2690T>G (p.Leu897Arg)
c.2870T>G (p.Leu957Arg)
c.2537T>G (p.Leu846Arg)
7g.117603654T=CA1737375026CFTRc.2780T= (p.Leu927=)
c.*2494T= (n.*2494T=)
c.2597T= (p.Leu866=)
c.*1080T= (n.*1080T=)
c.*2604T= (n.*2604T=)
c.2354T= (p.Leu785=)
c.371T= (p.Leu124=)
c.430T=
c.1562T= (p.Leu521=)
c.2690T= (p.Leu897=)
c.2870T= (p.Leu957=)
c.2537T= (p.Leu846=)
7g.117603655T>ACA457227968CFTRc.2781T>A (p.Leu927=)
c.*2495T>A (n.*2495T>A)
c.2598T>A (p.Leu866=)
c.*1081T>A (n.*1081T>A)
c.*2605T>A (n.*2605T>A)
c.2355T>A (p.Leu785=)
c.372T>A (p.Leu124=)
c.431T>A
c.1563T>A (p.Leu521=)
c.2691T>A (p.Leu897=)
c.2871T>A (p.Leu957=)
c.2538T>A (p.Leu846=)
 dbSNP
7g.117603655T>CCA457227970CFTRc.2781T>C (p.Leu927=)
c.*2495T>C (n.*2495T>C)
c.2598T>C (p.Leu866=)
c.*1081T>C (n.*1081T>C)
c.*2605T>C (n.*2605T>C)
c.2355T>C (p.Leu785=)
c.372T>C (p.Leu124=)
c.431T>C
c.1563T>C (p.Leu521=)
c.2691T>C (p.Leu897=)
c.2871T>C (p.Leu957=)
c.2538T>C (p.Leu846=)
7g.117603655T>GCA457227969CFTRc.2781T>G (p.Leu927=)
c.*2495T>G (n.*2495T>G)
c.2598T>G (p.Leu866=)
c.*1081T>G (n.*1081T>G)
c.*2605T>G (n.*2605T>G)
c.2355T>G (p.Leu785=)
c.372T>G (p.Leu124=)
c.431T>G
c.1563T>G (p.Leu521=)
c.2691T>G (p.Leu897=)
c.2871T>G (p.Leu957=)
c.2538T>G (p.Leu846=)
7g.117603655T=CA1737375032CFTRc.2781T= (p.Leu927=)
c.*2495T= (n.*2495T=)
c.2598T= (p.Leu866=)
c.*1081T= (n.*1081T=)
c.*2605T= (n.*2605T=)
c.2355T= (p.Leu785=)
c.372T= (p.Leu124=)
c.431T=
c.1563T= (p.Leu521=)
c.2691T= (p.Leu897=)
c.2871T= (p.Leu957=)
c.2538T= (p.Leu846=)
7g.117603656G>ACA368986801CFTRc.2782G>A (p.Ala928Thr)
c.*2496G>A (n.*2496G>A)
c.2599G>A (p.Ala867Thr)
c.*1082G>A (n.*1082G>A)
c.*2606G>A (n.*2606G>A)
c.2356G>A (p.Ala786Thr)
c.373G>A (p.Ala125Thr)
c.432G>A
c.1564G>A (p.Ala522Thr)
c.2692G>A (p.Ala898Thr)
c.2872G>A (p.Ala958Thr)
c.2539G>A (p.Ala847Thr)
7g.117603656G>CCA368986804CFTRc.2782G>C (p.Ala928Pro)
c.*2496G>C (n.*2496G>C)
c.2599G>C (p.Ala867Pro)
c.*1082G>C (n.*1082G>C)
c.*2606G>C (n.*2606G>C)
c.2356G>C (p.Ala786Pro)
c.373G>C (p.Ala125Pro)
c.432G>C
c.1564G>C (p.Ala522Pro)
c.2692G>C (p.Ala898Pro)
c.2872G>C (p.Ala958Pro)
c.2539G>C (p.Ala847Pro)
7g.117603656G>TCA368986806CFTRc.2782G>T (p.Ala928Ser)
c.*2496G>T (n.*2496G>T)
c.2599G>T (p.Ala867Ser)
c.*1082G>T (n.*1082G>T)
c.*2606G>T (n.*2606G>T)
c.2356G>T (p.Ala786Ser)
c.373G>T (p.Ala125Ser)
c.432G>T
c.1564G>T (p.Ala522Ser)
c.2692G>T (p.Ala898Ser)
c.2872G>T (p.Ala958Ser)
c.2539G>T (p.Ala847Ser)
7g.117603657C>ACA368986809CFTRc.2783C>A (p.Ala928Asp)
c.*2497C>A (n.*2497C>A)
c.2600C>A (p.Ala867Asp)
c.*1083C>A (n.*1083C>A)
c.*2607C>A (n.*2607C>A)
c.2357C>A (p.Ala786Asp)
c.374C>A (p.Ala125Asp)
c.433C>A
c.1565C>A (p.Ala522Asp)
c.2693C>A (p.Ala898Asp)
c.2873C>A (p.Ala958Asp)
c.2540C>A (p.Ala847Asp)
7g.117603657C>GCA368986814CFTRc.2783C>G (p.Ala928Gly)
c.*2497C>G (n.*2497C>G)
c.2600C>G (p.Ala867Gly)
c.*1083C>G (n.*1083C>G)
c.*2607C>G (n.*2607C>G)
c.2357C>G (p.Ala786Gly)
c.374C>G (p.Ala125Gly)
c.433C>G
c.1565C>G (p.Ala522Gly)
c.2693C>G (p.Ala898Gly)
c.2873C>G (p.Ala958Gly)
c.2540C>G (p.Ala847Gly)
7g.117603657C>TCA368986812CFTRc.2783C>T (p.Ala928Val)
c.*2497C>T (n.*2497C>T)
c.2600C>T (p.Ala867Val)
c.*1083C>T (n.*1083C>T)
c.*2607C>T (n.*2607C>T)
c.2357C>T (p.Ala786Val)
c.374C>T (p.Ala125Val)
c.433C>T
c.1565C>T (p.Ala522Val)
c.2693C>T (p.Ala898Val)
c.2873C>T (p.Ala958Val)
c.2540C>T (p.Ala847Val)
 gnomAD v4 COSMIC
7g.117603658T>ACA457227973CFTRc.2784T>A (p.Ala928=)
c.*2498T>A (n.*2498T>A)
c.2601T>A (p.Ala867=)
c.*1084T>A (n.*1084T>A)
c.*2608T>A (n.*2608T>A)
c.2358T>A (p.Ala786=)
c.375T>A (p.Ala125=)
c.434T>A
c.1566T>A (p.Ala522=)
c.2694T>A (p.Ala898=)
c.2874T>A (p.Ala958=)
c.2541T>A (p.Ala847=)
7g.117603658T>CCA457227972CFTRc.2784T>C (p.Ala928=)
c.*2498T>C (n.*2498T>C)
c.2601T>C (p.Ala867=)
c.*1084T>C (n.*1084T>C)
c.*2608T>C (n.*2608T>C)
c.2358T>C (p.Ala786=)
c.375T>C (p.Ala125=)
c.434T>C
c.1566T>C (p.Ala522=)
c.2694T>C (p.Ala898=)
c.2874T>C (p.Ala958=)
c.2541T>C (p.Ala847=)
7g.117603658T>GCA457227971CFTRc.2784T>G (p.Ala928=)
c.*2498T>G (n.*2498T>G)
c.2601T>G (p.Ala867=)
c.*1084T>G (n.*1084T>G)
c.*2608T>G (n.*2608T>G)
c.2358T>G (p.Ala786=)
c.375T>G (p.Ala125=)
c.434T>G
c.1566T>G (p.Ala522=)
c.2694T>G (p.Ala898=)
c.2874T>G (p.Ala958=)
c.2541T>G (p.Ala847=)
7g.117603659A>CCA368986819CFTRc.2785A>C (p.Met929Leu)
c.*2499A>C (n.*2499A>C)
c.2602A>C (p.Met868Leu)
c.*1085A>C (n.*1085A>C)
c.*2609A>C (n.*2609A>C)
c.2359A>C (p.Met787Leu)
c.376A>C (p.Met126Leu)
c.435A>C
c.1567A>C (p.Met523Leu)
c.2695A>C (p.Met899Leu)
c.2875A>C (p.Met959Leu)
c.2542A>C (p.Met848Leu)
7g.117603659A>GCA368986822CFTRc.2785A>G (p.Met929Val)
c.*2499A>G (n.*2499A>G)
c.2602A>G (p.Met868Val)
c.*1085A>G (n.*1085A>G)
c.*2609A>G (n.*2609A>G)
c.2359A>G (p.Met787Val)
c.376A>G (p.Met126Val)
c.435A>G
c.1567A>G (p.Met523Val)
c.2695A>G (p.Met899Val)
c.2875A>G (p.Met959Val)
c.2542A>G (p.Met848Val)
7g.117603659A>TCA368986825CFTRc.2785A>T (p.Met929Leu)
c.*2499A>T (n.*2499A>T)
c.2602A>T (p.Met868Leu)
c.*1085A>T (n.*1085A>T)
c.*2609A>T (n.*2609A>T)
c.2359A>T (p.Met787Leu)
c.376A>T (p.Met126Leu)
c.435A>T
c.1567A>T (p.Met523Leu)
c.2695A>T (p.Met899Leu)
c.2875A>T (p.Met959Leu)
c.2542A>T (p.Met848Leu)
7g.117603660T>ACA368986828CFTRc.2786T>A (p.Met929Lys)
c.*2500T>A (n.*2500T>A)
c.2603T>A (p.Met868Lys)
c.*1086T>A (n.*1086T>A)
c.*2610T>A (n.*2610T>A)
c.2360T>A (p.Met787Lys)
c.377T>A (p.Met126Lys)
c.436T>A
c.1568T>A (p.Met523Lys)
c.2696T>A (p.Met899Lys)
c.2876T>A (p.Met959Lys)
c.2543T>A (p.Met848Lys)
 gnomAD v4
7g.117603660T>CCA368986831CFTRc.2786T>C (p.Met929Thr)
c.*2500T>C (n.*2500T>C)
c.2603T>C (p.Met868Thr)
c.*1086T>C (n.*1086T>C)
c.*2610T>C (n.*2610T>C)
c.2360T>C (p.Met787Thr)
c.377T>C (p.Met126Thr)
c.436T>C
c.1568T>C (p.Met523Thr)
c.2696T>C (p.Met899Thr)
c.2876T>C (p.Met959Thr)
c.2543T>C (p.Met848Thr)
7g.117603660T>GCA368986840CFTRc.2786T>G (p.Met929Arg)
c.*2500T>G (n.*2500T>G)
c.2603T>G (p.Met868Arg)
c.*1086T>G (n.*1086T>G)
c.*2610T>G (n.*2610T>G)
c.2360T>G (p.Met787Arg)
c.377T>G (p.Met126Arg)
c.436T>G
c.1568T>G (p.Met523Arg)
c.2696T>G (p.Met899Arg)
c.2876T>G (p.Met959Arg)
c.2543T>G (p.Met848Arg)
7g.117603661G>ACA368986843CFTRc.2787G>A (p.Met929Ile)
c.*2501G>A (n.*2501G>A)
c.2604G>A (p.Met868Ile)
c.*1087G>A (n.*1087G>A)
c.*2611G>A (n.*2611G>A)
c.2361G>A (p.Met787Ile)
c.378G>A (p.Met126Ile)
c.437G>A
c.1569G>A (p.Met523Ile)
c.2697G>A (p.Met899Ile)
c.2877G>A (p.Met959Ile)
c.2544G>A (p.Met848Ile)
 ClinVar
7g.117603661G>CCA368986845CFTRc.2787G>C (p.Met929Ile)
c.*2501G>C (n.*2501G>C)
c.2604G>C (p.Met868Ile)
c.*1087G>C (n.*1087G>C)
c.*2611G>C (n.*2611G>C)
c.2361G>C (p.Met787Ile)
c.378G>C (p.Met126Ile)
c.437G>C
c.1569G>C (p.Met523Ile)
c.2697G>C (p.Met899Ile)
c.2877G>C (p.Met959Ile)
c.2544G>C (p.Met848Ile)
7g.117603661G>TCA368986847CFTRc.2787G>T (p.Met929Ile)
c.*2501G>T (n.*2501G>T)
c.2604G>T (p.Met868Ile)
c.*1087G>T (n.*1087G>T)
c.*2611G>T (n.*2611G>T)
c.2361G>T (p.Met787Ile)
c.378G>T (p.Met126Ile)
c.437G>T
c.1569G>T (p.Met523Ile)
c.2697G>T (p.Met899Ile)
c.2877G>T (p.Met959Ile)
c.2544G>T (p.Met848Ile)
7g.117603663delCA2695208420CFTRc.2789del (p.Gly930AspfsTer12)
c.*2503del (n.*2503del)
c.2606del (p.Gly869AspfsTer12)
c.*1089del (n.*1089del)
c.*2613del (n.*2613del)
c.2363del (p.Gly788AspfsTer12)
c.380del (p.Gly127AspfsTer12)
c.439del
c.1571del (p.Gly524AspfsTer12)
c.2699del (p.Gly900AspfsTer12)
c.2879del (p.Gly960AspfsTer12)
c.2546del (p.Gly849AspfsTer12)
7g.117603662G>ACA368986848CFTRc.2788G>A (p.Gly930Arg)
c.*2502G>A (n.*2502G>A)
c.2605G>A (p.Gly869Arg)
c.*1088G>A (n.*1088G>A)
c.*2612G>A (n.*2612G>A)
c.2362G>A (p.Gly788Arg)
c.379G>A (p.Gly127Arg)
c.438G>A
c.1570G>A (p.Gly524Arg)
c.2698G>A (p.Gly900Arg)
c.2878G>A (p.Gly960Arg)
c.2545G>A (p.Gly849Arg)
7g.117603662G>CCA368986849CFTRc.2788G>C (p.Gly930Arg)
c.*2502G>C (n.*2502G>C)
c.2605G>C (p.Gly869Arg)
c.*1088G>C (n.*1088G>C)
c.*2612G>C (n.*2612G>C)
c.2362G>C (p.Gly788Arg)
c.379G>C (p.Gly127Arg)
c.438G>C
c.1570G>C (p.Gly524Arg)
c.2698G>C (p.Gly900Arg)
c.2878G>C (p.Gly960Arg)
c.2545G>C (p.Gly849Arg)
7g.117603662G>TCA368986851CFTRc.2788G>T (p.Gly930Ter)
c.*2502G>T (n.*2502G>T)
c.2605G>T (p.Gly869Ter)
c.*1088G>T (n.*1088G>T)
c.*2612G>T (n.*2612G>T)
c.2362G>T (p.Gly788Ter)
c.379G>T (p.Gly127Ter)
c.438G>T
c.1570G>T (p.Gly524Ter)
c.2698G>T (p.Gly900Ter)
c.2878G>T (p.Gly960Ter)
c.2545G>T (p.Gly849Ter)
 gnomAD v4
7g.117603663G>ACA368986853CFTRc.2789G>A (p.Gly930Glu)
c.*2503G>A (n.*2503G>A)
c.2606G>A (p.Gly869Glu)
c.*1089G>A (n.*1089G>A)
c.*2613G>A (n.*2613G>A)
c.2363G>A (p.Gly788Glu)
c.380G>A (p.Gly127Glu)
c.439G>A
c.1571G>A (p.Gly524Glu)
c.2699G>A (p.Gly900Glu)
c.2879G>A (p.Gly960Glu)
c.2546G>A (p.Gly849Glu)
7g.117603663G>CCA368986855CFTRc.2789G>C (p.Gly930Ala)
c.*2503G>C (n.*2503G>C)
c.2606G>C (p.Gly869Ala)
c.*1089G>C (n.*1089G>C)
c.*2613G>C (n.*2613G>C)
c.2363G>C (p.Gly788Ala)
c.380G>C (p.Gly127Ala)
c.439G>C
c.1571G>C (p.Gly524Ala)
c.2699G>C (p.Gly900Ala)
c.2879G>C (p.Gly960Ala)
c.2546G>C (p.Gly849Ala)
7g.117603663G>TCA368986854CFTRc.2789G>T (p.Gly930Val)
c.*2503G>T (n.*2503G>T)
c.2606G>T (p.Gly869Val)
c.*1089G>T (n.*1089G>T)
c.*2613G>T (n.*2613G>T)
c.2363G>T (p.Gly788Val)
c.380G>T (p.Gly127Val)
c.439G>T
c.1571G>T (p.Gly524Val)
c.2699G>T (p.Gly900Val)
c.2879G>T (p.Gly960Val)
c.2546G>T (p.Gly849Val)
 gnomAD v4
7g.117603664A=CA1737375034CFTRc.2790A= (p.Gly930=)
c.*2504A= (n.*2504A=)
c.2607A= (p.Gly869=)
c.*1090A= (n.*1090A=)
c.*2614A= (n.*2614A=)
c.2364A= (p.Gly788=)
c.381A= (p.Gly127=)
c.440A=
c.1572A= (p.Gly524=)
c.2700A= (p.Gly900=)
c.2880A= (p.Gly960=)
c.2547A= (p.Gly849=)
7g.117603664A>CCA457227974CFTRc.2790A>C (p.Gly930=)
c.*2504A>C (n.*2504A>C)
c.2607A>C (p.Gly869=)
c.*1090A>C (n.*1090A>C)
c.*2614A>C (n.*2614A>C)
c.2364A>C (p.Gly788=)
c.381A>C (p.Gly127=)
c.440A>C
c.1572A>C (p.Gly524=)
c.2700A>C (p.Gly900=)
c.2880A>C (p.Gly960=)
c.2547A>C (p.Gly849=)
 ClinVar
7g.117603664A>GCA164960202CFTRc.2790A>G (p.Gly930=)
c.*2504A>G (n.*2504A>G)
c.2607A>G (p.Gly869=)
c.*1090A>G (n.*1090A>G)
c.*2614A>G (n.*2614A>G)
c.2364A>G (p.Gly788=)
c.381A>G (p.Gly127=)
c.440A>G
c.1572A>G (p.Gly524=)
c.2700A>G (p.Gly900=)
c.2880A>G (p.Gly960=)
c.2547A>G (p.Gly849=)
 ClinVar dbSNP
7g.117603664A>TCA457227975CFTRc.2790A>T (p.Gly930=)
c.*2504A>T (n.*2504A>T)
c.2607A>T (p.Gly869=)
c.*1090A>T (n.*1090A>T)
c.*2614A>T (n.*2614A>T)
c.2364A>T (p.Gly788=)
c.381A>T (p.Gly127=)
c.440A>T
c.1572A>T (p.Gly524=)
c.2700A>T (p.Gly900=)
c.2880A>T (p.Gly960=)
c.2547A>T (p.Gly849=)
7g.117603665T>ACA368986857CFTRc.2791T>A (p.Phe931Ile)
c.*2505T>A (n.*2505T>A)
c.2608T>A (p.Phe870Ile)
c.*1091T>A (n.*1091T>A)
c.*2615T>A (n.*2615T>A)
c.2365T>A (p.Phe789Ile)
c.382T>A (p.Phe128Ile)
c.441T>A
c.1573T>A (p.Phe525Ile)
c.2701T>A (p.Phe901Ile)
c.2881T>A (p.Phe961Ile)
c.2548T>A (p.Phe850Ile)
7g.117603665T>CCA368986859CFTRc.2791T>C (p.Phe931Leu)
c.*2505T>C (n.*2505T>C)
c.2608T>C (p.Phe870Leu)
c.*1091T>C (n.*1091T>C)
c.*2615T>C (n.*2615T>C)
c.2365T>C (p.Phe789Leu)
c.382T>C (p.Phe128Leu)
c.441T>C
c.1573T>C (p.Phe525Leu)
c.2701T>C (p.Phe901Leu)
c.2881T>C (p.Phe961Leu)
c.2548T>C (p.Phe850Leu)
7g.117603665T>GCA368986863CFTRc.2791T>G (p.Phe931Val)
c.*2505T>G (n.*2505T>G)
c.2608T>G (p.Phe870Val)
c.*1091T>G (n.*1091T>G)
c.*2615T>G (n.*2615T>G)
c.2365T>G (p.Phe789Val)
c.382T>G (p.Phe128Val)
c.441T>G
c.1573T>G (p.Phe525Val)
c.2701T>G (p.Phe901Val)
c.2881T>G (p.Phe961Val)
c.2548T>G (p.Phe850Val)
7g.117603666T>ACA368986866CFTRc.2792T>A (p.Phe931Tyr)
c.*2506T>A (n.*2506T>A)
c.2609T>A (p.Phe870Tyr)
c.*1092T>A (n.*1092T>A)
c.*2616T>A (n.*2616T>A)
c.2366T>A (p.Phe789Tyr)
c.383T>A (p.Phe128Tyr)
c.442T>A
c.1574T>A (p.Phe525Tyr)
c.2702T>A (p.Phe901Tyr)
c.2882T>A (p.Phe961Tyr)
c.2549T>A (p.Phe850Tyr)
7g.117603666T>CCA368986867CFTRc.2792T>C (p.Phe931Ser)
c.*2506T>C (n.*2506T>C)
c.2609T>C (p.Phe870Ser)
c.*1092T>C (n.*1092T>C)
c.*2616T>C (n.*2616T>C)
c.2366T>C (p.Phe789Ser)
c.383T>C (p.Phe128Ser)
c.442T>C
c.1574T>C (p.Phe525Ser)
c.2702T>C (p.Phe901Ser)
c.2882T>C (p.Phe961Ser)
c.2549T>C (p.Phe850Ser)
7g.117603666T>GCA368986869CFTRc.2792T>G (p.Phe931Cys)
c.*2506T>G (n.*2506T>G)
c.2609T>G (p.Phe870Cys)
c.*1092T>G (n.*1092T>G)
c.*2616T>G (n.*2616T>G)
c.2366T>G (p.Phe789Cys)
c.383T>G (p.Phe128Cys)
c.442T>G
c.1574T>G (p.Phe525Cys)
c.2702T>G (p.Phe901Cys)
c.2882T>G (p.Phe961Cys)
c.2549T>G (p.Phe850Cys)
7g.117603667C>ACA368986870CFTRc.2793C>A (p.Phe931Leu)
c.*2507C>A (n.*2507C>A)
c.2610C>A (p.Phe870Leu)
c.*1093C>A (n.*1093C>A)
c.*2617C>A (n.*2617C>A)
c.2367C>A (p.Phe789Leu)
c.384C>A (p.Phe128Leu)
c.443C>A
c.1575C>A (p.Phe525Leu)
c.2703C>A (p.Phe901Leu)
c.2883C>A (p.Phe961Leu)
c.2550C>A (p.Phe850Leu)
7g.117603667C=CA1737375038CFTRc.2793C= (p.Phe931=)
c.*2507C= (n.*2507C=)
c.2610C= (p.Phe870=)
c.*1093C= (n.*1093C=)
c.*2617C= (n.*2617C=)
c.2367C= (p.Phe789=)
c.384C= (p.Phe128=)
c.443C=
c.1575C= (p.Phe525=)
c.2703C= (p.Phe901=)
c.2883C= (p.Phe961=)
c.2550C= (p.Phe850=)
7g.117603667C>GCA368986872CFTRc.2793C>G (p.Phe931Leu)
c.*2507C>G (n.*2507C>G)
c.2610C>G (p.Phe870Leu)
c.*1093C>G (n.*1093C>G)
c.*2617C>G (n.*2617C>G)
c.2367C>G (p.Phe789Leu)
c.384C>G (p.Phe128Leu)
c.443C>G
c.1575C>G (p.Phe525Leu)
c.2703C>G (p.Phe901Leu)
c.2883C>G (p.Phe961Leu)
c.2550C>G (p.Phe850Leu)
 gnomAD v4
7g.117603667C>TCA457227976CFTRc.2793C>T (p.Phe931=)
c.*2507C>T (n.*2507C>T)
c.2610C>T (p.Phe870=)
c.*1093C>T (n.*1093C>T)
c.*2617C>T (n.*2617C>T)
c.2367C>T (p.Phe789=)
c.384C>T (p.Phe128=)
c.443C>T
c.1575C>T (p.Phe525=)
c.2703C>T (p.Phe901=)
c.2883C>T (p.Phe961=)
c.2550C>T (p.Phe850=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603668T>ACA368986874CFTRc.2794T>A (p.Phe932Ile)
c.*2508T>A (n.*2508T>A)
c.2611T>A (p.Phe871Ile)
c.*1094T>A (n.*1094T>A)
c.*2618T>A (n.*2618T>A)
c.2368T>A (p.Phe790Ile)
c.385T>A (p.Phe129Ile)
c.444T>A
c.1576T>A (p.Phe526Ile)
c.2704T>A (p.Phe902Ile)
c.2884T>A (p.Phe962Ile)
c.2551T>A (p.Phe851Ile)
7g.117603668T>CCA368986875CFTRc.2794T>C (p.Phe932Leu)
c.*2508T>C (n.*2508T>C)
c.2611T>C (p.Phe871Leu)
c.*1094T>C (n.*1094T>C)
c.*2618T>C (n.*2618T>C)
c.2368T>C (p.Phe790Leu)
c.385T>C (p.Phe129Leu)
c.444T>C
c.1576T>C (p.Phe526Leu)
c.2704T>C (p.Phe902Leu)
c.2884T>C (p.Phe962Leu)
c.2551T>C (p.Phe851Leu)
7g.117603668T>GCA368986877CFTRc.2794T>G (p.Phe932Val)
c.*2508T>G (n.*2508T>G)
c.2611T>G (p.Phe871Val)
c.*1094T>G (n.*1094T>G)
c.*2618T>G (n.*2618T>G)
c.2368T>G (p.Phe790Val)
c.385T>G (p.Phe129Val)
c.444T>G
c.1576T>G (p.Phe526Val)
c.2704T>G (p.Phe902Val)
c.2884T>G (p.Phe962Val)
c.2551T>G (p.Phe851Val)
7g.117603669T>ACA368986884CFTRc.2795T>A (p.Phe932Tyr)
c.*2509T>A (n.*2509T>A)
c.2612T>A (p.Phe871Tyr)
c.*1095T>A (n.*1095T>A)
c.*2619T>A (n.*2619T>A)
c.2369T>A (p.Phe790Tyr)
c.386T>A (p.Phe129Tyr)
c.445T>A
c.1577T>A (p.Phe526Tyr)
c.2705T>A (p.Phe902Tyr)
c.2885T>A (p.Phe962Tyr)
c.2552T>A (p.Phe851Tyr)
7g.117603669T>CCA368986881CFTRc.2795T>C (p.Phe932Ser)
c.*2509T>C (n.*2509T>C)
c.2612T>C (p.Phe871Ser)
c.*1095T>C (n.*1095T>C)
c.*2619T>C (n.*2619T>C)
c.2369T>C (p.Phe790Ser)
c.386T>C (p.Phe129Ser)
c.445T>C
c.1577T>C (p.Phe526Ser)
c.2705T>C (p.Phe902Ser)
c.2885T>C (p.Phe962Ser)
c.2552T>C (p.Phe851Ser)
7g.117603669T>GCA368986880CFTRc.2795T>G (p.Phe932Cys)
c.*2509T>G (n.*2509T>G)
c.2612T>G (p.Phe871Cys)
c.*1095T>G (n.*1095T>G)
c.*2619T>G (n.*2619T>G)
c.2369T>G (p.Phe790Cys)
c.386T>G (p.Phe129Cys)
c.445T>G
c.1577T>G (p.Phe526Cys)
c.2705T>G (p.Phe902Cys)
c.2885T>G (p.Phe962Cys)
c.2552T>G (p.Phe851Cys)
7g.117603670C>ACA368986887CFTRc.2796C>A (p.Phe932Leu)
c.*2510C>A (n.*2510C>A)
c.2613C>A (p.Phe871Leu)
c.*1096C>A (n.*1096C>A)
c.*2620C>A (n.*2620C>A)
c.2370C>A (p.Phe790Leu)
c.387C>A (p.Phe129Leu)
c.446C>A
c.1578C>A (p.Phe526Leu)
c.2706C>A (p.Phe902Leu)
c.2886C>A (p.Phe962Leu)
c.2553C>A (p.Phe851Leu)
7g.117603670C>GCA368986888CFTRc.2796C>G (p.Phe932Leu)
c.*2510C>G (n.*2510C>G)
c.2613C>G (p.Phe871Leu)
c.*1096C>G (n.*1096C>G)
c.*2620C>G (n.*2620C>G)
c.2370C>G (p.Phe790Leu)
c.387C>G (p.Phe129Leu)
c.446C>G
c.1578C>G (p.Phe526Leu)
c.2706C>G (p.Phe902Leu)
c.2886C>G (p.Phe962Leu)
c.2553C>G (p.Phe851Leu)
7g.117603670C>TCA457227977CFTRc.2796C>T (p.Phe932=)
c.*2510C>T (n.*2510C>T)
c.2613C>T (p.Phe871=)
c.*1096C>T (n.*1096C>T)
c.*2620C>T (n.*2620C>T)
c.2370C>T (p.Phe790=)
c.387C>T (p.Phe129=)
c.446C>T
c.1578C>T (p.Phe526=)
c.2706C>T (p.Phe902=)
c.2886C>T (p.Phe962=)
c.2553C>T (p.Phe851=)
7g.117603671A=CA1737375047CFTRc.2797A= (p.Arg933=)
c.*2511A= (n.*2511A=)
c.2614A= (p.Arg872=)
c.*1097A= (n.*1097A=)
c.*2621A= (n.*2621A=)
c.2371A= (p.Arg791=)
c.388A= (p.Arg130=)
c.447A=
c.1579A= (p.Arg527=)
c.2707A= (p.Arg903=)
c.2887A= (p.Arg963=)
c.2554A= (p.Arg852=)
7g.117603671A>CCA457227978CFTRc.2797A>C (p.Arg933=)
c.*2511A>C (n.*2511A>C)
c.2614A>C (p.Arg872=)
c.*1097A>C (n.*1097A>C)
c.*2621A>C (n.*2621A>C)
c.2371A>C (p.Arg791=)
c.388A>C (p.Arg130=)
c.447A>C
c.1579A>C (p.Arg527=)
c.2707A>C (p.Arg903=)
c.2887A>C (p.Arg963=)
c.2554A>C (p.Arg852=)
7g.117603671A>GCA326927CFTRc.2797A>G (p.Arg933Gly)
c.*2511A>G (n.*2511A>G)
c.2614A>G (p.Arg872Gly)
c.*1097A>G (n.*1097A>G)
c.*2621A>G (n.*2621A>G)
c.2371A>G (p.Arg791Gly)
c.388A>G (p.Arg130Gly)
c.447A>G
c.1579A>G (p.Arg527Gly)
c.2707A>G (p.Arg903Gly)
c.2887A>G (p.Arg963Gly)
c.2554A>G (p.Arg852Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603671A>TCA368986890CFTRc.2797A>T (p.Arg933Ter)
c.*2511A>T (n.*2511A>T)
c.2614A>T (p.Arg872Ter)
c.*1097A>T (n.*1097A>T)
c.*2621A>T (n.*2621A>T)
c.2371A>T (p.Arg791Ter)
c.388A>T (p.Arg130Ter)
c.447A>T
c.1579A>T (p.Arg527Ter)
c.2707A>T (p.Arg903Ter)
c.2887A>T (p.Arg963Ter)
c.2554A>T (p.Arg852Ter)
7g.117603672G>ACA368986894CFTRc.2798G>A (p.Arg933Lys)
c.*2512G>A (n.*2512G>A)
c.2615G>A (p.Arg872Lys)
c.*1098G>A (n.*1098G>A)
c.*2622G>A (n.*2622G>A)
c.2372G>A (p.Arg791Lys)
c.389G>A (p.Arg130Lys)
c.448G>A
c.1580G>A (p.Arg527Lys)
c.2708G>A (p.Arg903Lys)
c.2888G>A (p.Arg963Lys)
c.2555G>A (p.Arg852Lys)
7g.117603672G>CCA368986898CFTRc.2798G>C (p.Arg933Thr)
c.*2512G>C (n.*2512G>C)
c.2615G>C (p.Arg872Thr)
c.*1098G>C (n.*1098G>C)
c.*2622G>C (n.*2622G>C)
c.2372G>C (p.Arg791Thr)
c.389G>C (p.Arg130Thr)
c.448G>C
c.1580G>C (p.Arg527Thr)
c.2708G>C (p.Arg903Thr)
c.2888G>C (p.Arg963Thr)
c.2555G>C (p.Arg852Thr)
7g.117603672G>TCA368986900CFTRc.2798G>T (p.Arg933Ile)
c.*2512G>T (n.*2512G>T)
c.2615G>T (p.Arg872Ile)
c.*1098G>T (n.*1098G>T)
c.*2622G>T (n.*2622G>T)
c.2372G>T (p.Arg791Ile)
c.389G>T (p.Arg130Ile)
c.448G>T
c.1580G>T (p.Arg527Ile)
c.2708G>T (p.Arg903Ile)
c.2888G>T (p.Arg963Ile)
c.2555G>T (p.Arg852Ile)
7g.117603673A=CA1737375055CFTRc.2799A= (p.Arg933=)
c.*2513A= (n.*2513A=)
c.2616A= (p.Arg872=)
c.*1099A= (n.*1099A=)
c.*2623A= (n.*2623A=)
c.2373A= (p.Arg791=)
c.390A= (p.Arg130=)
c.449A=
c.1581A= (p.Arg527=)
c.2709A= (p.Arg903=)
c.2889A= (p.Arg963=)
c.2556A= (p.Arg852=)
7g.117603673A>CCA368986904CFTRc.2799A>C (p.Arg933Ser)
c.*2513A>C (n.*2513A>C)
c.2616A>C (p.Arg872Ser)
c.*1099A>C (n.*1099A>C)
c.*2623A>C (n.*2623A>C)
c.2373A>C (p.Arg791Ser)
c.390A>C (p.Arg130Ser)
c.449A>C
c.1581A>C (p.Arg527Ser)
c.2709A>C (p.Arg903Ser)
c.2889A>C (p.Arg963Ser)
c.2556A>C (p.Arg852Ser)
7g.117603673A>GCA457227979CFTRc.2799A>G (p.Arg933=)
c.*2513A>G (n.*2513A>G)
c.2616A>G (p.Arg872=)
c.*1099A>G (n.*1099A>G)
c.*2623A>G (n.*2623A>G)
c.2373A>G (p.Arg791=)
c.390A>G (p.Arg130=)
c.449A>G
c.1581A>G (p.Arg527=)
c.2709A>G (p.Arg903=)
c.2889A>G (p.Arg963=)
c.2556A>G (p.Arg852=)
7g.117603673A>TCA326929CFTRc.2799A>T (p.Arg933Ser)
c.*2513A>T (n.*2513A>T)
c.2616A>T (p.Arg872Ser)
c.*1099A>T (n.*1099A>T)
c.*2623A>T (n.*2623A>T)
c.2373A>T (p.Arg791Ser)
c.390A>T (p.Arg130Ser)
c.449A>T
c.1581A>T (p.Arg527Ser)
c.2709A>T (p.Arg903Ser)
c.2889A>T (p.Arg963Ser)
c.2556A>T (p.Arg852Ser)
 ClinVar dbSNP
7g.117603674G>ACA4451288CFTRc.2800G>A (p.Gly934Ser)
c.*2514G>A (n.*2514G>A)
c.2617G>A (p.Gly873Ser)
c.*1100G>A (n.*1100G>A)
c.*2624G>A (n.*2624G>A)
c.2374G>A (p.Gly792Ser)
c.391G>A (p.Gly131Ser)
c.450G>A
c.1582G>A (p.Gly528Ser)
c.2710G>A (p.Gly904Ser)
c.2890G>A (p.Gly964Ser)
c.2557G>A (p.Gly853Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603674G>CCA368986913CFTRc.2800G>C (p.Gly934Arg)
c.*2514G>C (n.*2514G>C)
c.2617G>C (p.Gly873Arg)
c.*1100G>C (n.*1100G>C)
c.*2624G>C (n.*2624G>C)
c.2374G>C (p.Gly792Arg)
c.391G>C (p.Gly131Arg)
c.450G>C
c.1582G>C (p.Gly528Arg)
c.2710G>C (p.Gly904Arg)
c.2890G>C (p.Gly964Arg)
c.2557G>C (p.Gly853Arg)
7g.117603674G=CA1737375063CFTRc.2800G= (p.Gly934=)
c.*2514G= (n.*2514G=)
c.2617G= (p.Gly873=)
c.*1100G= (n.*1100G=)
c.*2624G= (n.*2624G=)
c.2374G= (p.Gly792=)
c.391G= (p.Gly131=)
c.450G=
c.1582G= (p.Gly528=)
c.2710G= (p.Gly904=)
c.2890G= (p.Gly964=)
c.2557G= (p.Gly853=)
7g.117603674G>TCA368986915CFTRc.2800G>T (p.Gly934Cys)
c.*2514G>T (n.*2514G>T)
c.2617G>T (p.Gly873Cys)
c.*1100G>T (n.*1100G>T)
c.*2624G>T (n.*2624G>T)
c.2374G>T (p.Gly792Cys)
c.391G>T (p.Gly131Cys)
c.450G>T
c.1582G>T (p.Gly528Cys)
c.2710G>T (p.Gly904Cys)
c.2890G>T (p.Gly964Cys)
c.2557G>T (p.Gly853Cys)
7g.117603677_117603687delCA2695208421CFTRc.2803_2813del (p.Leu935AlafsTer?)
c.*2517_*2527del (n.*2517_*2527del)
c.2620_2630del (p.Leu874AlafsTer?)
c.*1103_*1113del (n.*1103_*1113del)
c.*2627_*2637del (n.*2627_*2637del)
c.2377_2387del (p.Leu793AlafsTer?)
c.394_404del (p.Leu132AlafsTer?)
c.453_463del
c.1585_1595del (p.Leu529AlafsTer?)
c.2713_2723del (p.Leu905AlafsTer?)
c.2893_2903del (p.Leu965AlafsTer?)
c.2560_2570del (p.Leu854AlafsTer?)
7g.117603675G>ACA368986918CFTRc.2801G>A (p.Gly934Asp)
c.*2515G>A (n.*2515G>A)
c.2618G>A (p.Gly873Asp)
c.*1101G>A (n.*1101G>A)
c.*2625G>A (n.*2625G>A)
c.2375G>A (p.Gly792Asp)
c.392G>A (p.Gly131Asp)
c.451G>A
c.1583G>A (p.Gly528Asp)
c.2711G>A (p.Gly904Asp)
c.2891G>A (p.Gly964Asp)
c.2558G>A (p.Gly853Asp)
7g.117603675G>CCA368986924CFTRc.2801G>C (p.Gly934Ala)
c.*2515G>C (n.*2515G>C)
c.2618G>C (p.Gly873Ala)
c.*1101G>C (n.*1101G>C)
c.*2625G>C (n.*2625G>C)
c.2375G>C (p.Gly792Ala)
c.392G>C (p.Gly131Ala)
c.451G>C
c.1583G>C (p.Gly528Ala)
c.2711G>C (p.Gly904Ala)
c.2891G>C (p.Gly964Ala)
c.2558G>C (p.Gly853Ala)
7g.117603675G=CA1737375068CFTRc.2801G= (p.Gly934=)
c.*2515G= (n.*2515G=)
c.2618G= (p.Gly873=)
c.*1101G= (n.*1101G=)
c.*2625G= (n.*2625G=)
c.2375G= (p.Gly792=)
c.392G= (p.Gly131=)
c.451G=
c.1583G= (p.Gly528=)
c.2711G= (p.Gly904=)
c.2891G= (p.Gly964=)
c.2558G= (p.Gly853=)
7g.117603675G>TCA368986921CFTRc.2801G>T (p.Gly934Val)
c.*2515G>T (n.*2515G>T)
c.2618G>T (p.Gly873Val)
c.*1101G>T (n.*1101G>T)
c.*2625G>T (n.*2625G>T)
c.2375G>T (p.Gly792Val)
c.392G>T (p.Gly131Val)
c.451G>T
c.1583G>T (p.Gly528Val)
c.2711G>T (p.Gly904Val)
c.2891G>T (p.Gly964Val)
c.2558G>T (p.Gly853Val)
 dbSNP
7g.117603676T>ACA457227980CFTRc.2802T>A (p.Gly934=)
c.*2516T>A (n.*2516T>A)
c.2619T>A (p.Gly873=)
c.*1102T>A (n.*1102T>A)
c.*2626T>A (n.*2626T>A)
c.2376T>A (p.Gly792=)
c.393T>A (p.Gly131=)
c.452T>A
c.1584T>A (p.Gly528=)
c.2712T>A (p.Gly904=)
c.2892T>A (p.Gly964=)
c.2559T>A (p.Gly853=)
7g.117603676T>CCA457227982CFTRc.2802T>C (p.Gly934=)
c.*2516T>C (n.*2516T>C)
c.2619T>C (p.Gly873=)
c.*1102T>C (n.*1102T>C)
c.*2626T>C (n.*2626T>C)
c.2376T>C (p.Gly792=)
c.393T>C (p.Gly131=)
c.452T>C
c.1584T>C (p.Gly528=)
c.2712T>C (p.Gly904=)
c.2892T>C (p.Gly964=)
c.2559T>C (p.Gly853=)
 ClinVar
7g.117603676T>GCA457227981CFTRc.2802T>G (p.Gly934=)
c.*2516T>G (n.*2516T>G)
c.2619T>G (p.Gly873=)
c.*1102T>G (n.*1102T>G)
c.*2626T>G (n.*2626T>G)
c.2376T>G (p.Gly792=)
c.393T>G (p.Gly131=)
c.452T>G
c.1584T>G (p.Gly528=)
c.2712T>G (p.Gly904=)
c.2892T>G (p.Gly964=)
c.2559T>G (p.Gly853=)
7g.117603677C>ACA368986928CFTRc.2803C>A (p.Leu935Ile)
c.*2517C>A (n.*2517C>A)
c.2620C>A (p.Leu874Ile)
c.*1103C>A (n.*1103C>A)
c.*2627C>A (n.*2627C>A)
c.2377C>A (p.Leu793Ile)
c.394C>A (p.Leu132Ile)
c.453C>A
c.1585C>A (p.Leu529Ile)
c.2713C>A (p.Leu905Ile)
c.2893C>A (p.Leu965Ile)
c.2560C>A (p.Leu854Ile)
7g.117603677C>GCA368986931CFTRc.2803C>G (p.Leu935Val)
c.*2517C>G (n.*2517C>G)
c.2620C>G (p.Leu874Val)
c.*1103C>G (n.*1103C>G)
c.*2627C>G (n.*2627C>G)
c.2377C>G (p.Leu793Val)
c.394C>G (p.Leu132Val)
c.453C>G
c.1585C>G (p.Leu529Val)
c.2713C>G (p.Leu905Val)
c.2893C>G (p.Leu965Val)
c.2560C>G (p.Leu854Val)
7g.117603677C>TCA457227983CFTRc.2803C>T (p.Leu935=)
c.*2517C>T (n.*2517C>T)
c.2620C>T (p.Leu874=)
c.*1103C>T (n.*1103C>T)
c.*2627C>T (n.*2627C>T)
c.2377C>T (p.Leu793=)
c.394C>T (p.Leu132=)
c.453C>T
c.1585C>T (p.Leu529=)
c.2713C>T (p.Leu905=)
c.2893C>T (p.Leu965=)
c.2560C>T (p.Leu854=)
7g.117603678T>ACA368986935CFTRc.2804T>A (p.Leu935Gln)
c.*2518T>A (n.*2518T>A)
c.2621T>A (p.Leu874Gln)
c.*1104T>A (n.*1104T>A)
c.*2628T>A (n.*2628T>A)
c.2378T>A (p.Leu793Gln)
c.395T>A (p.Leu132Gln)
c.454T>A
c.1586T>A (p.Leu529Gln)
c.2714T>A (p.Leu905Gln)
c.2894T>A (p.Leu965Gln)
c.2561T>A (p.Leu854Gln)
7g.117603678T>CCA368986943CFTRc.2804T>C (p.Leu935Pro)
c.*2518T>C (n.*2518T>C)
c.2621T>C (p.Leu874Pro)
c.*1104T>C (n.*1104T>C)
c.*2628T>C (n.*2628T>C)
c.2378T>C (p.Leu793Pro)
c.395T>C (p.Leu132Pro)
c.454T>C
c.1586T>C (p.Leu529Pro)
c.2714T>C (p.Leu905Pro)
c.2894T>C (p.Leu965Pro)
c.2561T>C (p.Leu854Pro)
7g.117603678T>GCA368986939CFTRc.2804T>G (p.Leu935Arg)
c.*2518T>G (n.*2518T>G)
c.2621T>G (p.Leu874Arg)
c.*1104T>G (n.*1104T>G)
c.*2628T>G (n.*2628T>G)
c.2378T>G (p.Leu793Arg)
c.395T>G (p.Leu132Arg)
c.454T>G
c.1586T>G (p.Leu529Arg)
c.2714T>G (p.Leu905Arg)
c.2894T>G (p.Leu965Arg)
c.2561T>G (p.Leu854Arg)
7g.117603678_117603684delinsTACCACTCA1737375071CFTRc.2804_2810delinsTACCACT (p.Leu935=)
c.*2518_*2524delinsTACCACT (n.*2518_*2524delinsTACCACT)
c.2621_2627delinsTACCACT (p.Leu874=)
c.*1104_*1110delinsTACCACT (n.*1104_*1110delinsTACCACT)
c.*2628_*2634delinsTACCACT (n.*2628_*2634delinsTACCACT)
c.2378_2384delinsTACCACT (p.Leu793=)
c.395_401delinsTACCACT (p.Leu132=)
c.454_460delinsTACCACT
c.1586_1592delinsTACCACT (p.Leu529=)
c.2714_2720delinsTACCACT (p.Leu905=)
c.2894_2900delinsTACCACT (p.Leu965=)
c.2561_2567delinsTACCACT (p.Leu854=)
7g.117603679delCA2684587830CFTRc.2805del (p.Pro936HisfsTer6)
c.*2519del (n.*2519del)
c.2622del (p.Pro875HisfsTer6)
c.*1105del (n.*1105del)
c.*2629del (n.*2629del)
c.2379del (p.Pro794HisfsTer6)
c.396del (p.Pro133HisfsTer6)
c.455del
c.1587del (p.Pro530HisfsTer6)
c.2715del (p.Pro906HisfsTer6)
c.2895del (p.Pro966HisfsTer6)
c.2562del (p.Pro855HisfsTer6)
 gnomAD v4
7g.117603679A=CA1737375080CFTRc.2805A= (p.Leu935=)
c.*2519A= (n.*2519A=)
c.2622A= (p.Leu874=)
c.*1105A= (n.*1105A=)
c.*2629A= (n.*2629A=)
c.2379A= (p.Leu793=)
c.396A= (p.Leu132=)
c.455A=
c.1587A= (p.Leu529=)
c.2715A= (p.Leu905=)
c.2895A= (p.Leu965=)
c.2562A= (p.Leu854=)
7g.117603679A>CCA457227984CFTRc.2805A>C (p.Leu935=)
c.*2519A>C (n.*2519A>C)
c.2622A>C (p.Leu874=)
c.*1105A>C (n.*1105A>C)
c.*2629A>C (n.*2629A>C)
c.2379A>C (p.Leu793=)
c.396A>C (p.Leu132=)
c.455A>C
c.1587A>C (p.Leu529=)
c.2715A>C (p.Leu905=)
c.2895A>C (p.Leu965=)
c.2562A>C (p.Leu854=)
7g.117603679A>GCA4451289CFTRc.2805A>G (p.Leu935=)
c.*2519A>G (n.*2519A>G)
c.2622A>G (p.Leu874=)
c.*1105A>G (n.*1105A>G)
c.*2629A>G (n.*2629A>G)
c.2379A>G (p.Leu793=)
c.396A>G (p.Leu132=)
c.455A>G
c.1587A>G (p.Leu529=)
c.2715A>G (p.Leu905=)
c.2895A>G (p.Leu965=)
c.2562A>G (p.Leu854=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603679A>TCA457227985CFTRc.2805A>T (p.Leu935=)
c.*2519A>T (n.*2519A>T)
c.2622A>T (p.Leu874=)
c.*1105A>T (n.*1105A>T)
c.*2629A>T (n.*2629A>T)
c.2379A>T (p.Leu793=)
c.396A>T (p.Leu132=)
c.455A>T
c.1587A>T (p.Leu529=)
c.2715A>T (p.Leu905=)
c.2895A>T (p.Leu965=)
c.2562A>T (p.Leu854=)
7g.117603679_117603680delinsACCA1737375077CFTRc.2805_2806delinsAC (p.Leu935=)
c.*2519_*2520delinsAC (n.*2519_*2520delinsAC)
c.2622_2623delinsAC (p.Leu874=)
c.*1105_*1106delinsAC (n.*1105_*1106delinsAC)
c.*2629_*2630delinsAC (n.*2629_*2630delinsAC)
c.2379_2380delinsAC (p.Leu793=)
c.396_397delinsAC (p.Leu132=)
c.455_456delinsAC
c.1587_1588delinsAC (p.Leu529=)
c.2715_2716delinsAC (p.Leu905=)
c.2895_2896delinsAC (p.Leu965=)
c.2562_2563delinsAC (p.Leu854=)
7g.117603679_117603684delinsTCAGACA645509184CFTRc.2805_2810delinsTCAGA (p.Pro936GlnfsTer6)
c.*2519_*2524delinsTCAGA (n.*2519_*2524delinsTCAGA)
c.2622_2627delinsTCAGA (p.Pro875GlnfsTer6)
c.*1105_*1110delinsTCAGA (n.*1105_*1110delinsTCAGA)
c.*2629_*2634delinsTCAGA (n.*2629_*2634delinsTCAGA)
c.2379_2384delinsTCAGA (p.Pro794GlnfsTer6)
c.396_401delinsTCAGA (p.Pro133GlnfsTer6)
c.455_460delinsTCAGA
c.1587_1592delinsTCAGA (p.Pro530GlnfsTer6)
c.2715_2720delinsTCAGA (p.Pro906GlnfsTer6)
c.2895_2900delinsTCAGA (p.Pro966GlnfsTer6)
c.2562_2567delinsTCAGA (p.Pro855GlnfsTer6)
 ClinVar dbSNP
7g.117603680C>ACA4451290CFTRc.2806C>A (p.Pro936Thr)
c.*2520C>A (n.*2520C>A)
c.2623C>A (p.Pro875Thr)
c.*1106C>A (n.*1106C>A)
c.*2630C>A (n.*2630C>A)
c.2380C>A (p.Pro794Thr)
c.397C>A (p.Pro133Thr)
c.456C>A
c.1588C>A (p.Pro530Thr)
c.2716C>A (p.Pro906Thr)
c.2896C>A (p.Pro966Thr)
c.2563C>A (p.Pro855Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603680C=CA1737375091CFTRc.2806C= (p.Pro936=)
c.*2520C= (n.*2520C=)
c.2623C= (p.Pro875=)
c.*1106C= (n.*1106C=)
c.*2630C= (n.*2630C=)
c.2380C= (p.Pro794=)
c.397C= (p.Pro133=)
c.456C=
c.1588C= (p.Pro530=)
c.2716C= (p.Pro906=)
c.2896C= (p.Pro966=)
c.2563C= (p.Pro855=)
7g.117603680C>GCA368986952CFTRc.2806C>G (p.Pro936Ala)
c.*2520C>G (n.*2520C>G)
c.2623C>G (p.Pro875Ala)
c.*1106C>G (n.*1106C>G)
c.*2630C>G (n.*2630C>G)
c.2380C>G (p.Pro794Ala)
c.397C>G (p.Pro133Ala)
c.456C>G
c.1588C>G (p.Pro530Ala)
c.2716C>G (p.Pro906Ala)
c.2896C>G (p.Pro966Ala)
c.2563C>G (p.Pro855Ala)
7g.117603680C>TCA368986956CFTRc.2806C>T (p.Pro936Ser)
c.*2520C>T (n.*2520C>T)
c.2623C>T (p.Pro875Ser)
c.*1106C>T (n.*1106C>T)
c.*2630C>T (n.*2630C>T)
c.2380C>T (p.Pro794Ser)
c.397C>T (p.Pro133Ser)
c.456C>T
c.1588C>T (p.Pro530Ser)
c.2716C>T (p.Pro906Ser)
c.2896C>T (p.Pro966Ser)
c.2563C>T (p.Pro855Ser)
 ClinVar gnomAD v4
7g.117603681delCA577680774CFTRc.2807del (p.Pro936HisfsTer6)
c.*2521del (n.*2521del)
c.2624del (p.Pro875HisfsTer6)
c.*1107del (n.*1107del)
c.*2631del (n.*2631del)
c.2381del (p.Pro794HisfsTer6)
c.398del (p.Pro133HisfsTer6)
c.457del
c.1589del (p.Pro530HisfsTer6)
c.2717del (p.Pro906HisfsTer6)
c.2897del (p.Pro966HisfsTer6)
c.2564del (p.Pro855HisfsTer6)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603681C>ACA368986966CFTRc.2807C>A (p.Pro936Gln)
c.*2521C>A (n.*2521C>A)
c.2624C>A (p.Pro875Gln)
c.*1107C>A (n.*1107C>A)
c.*2631C>A (n.*2631C>A)
c.2381C>A (p.Pro794Gln)
c.398C>A (p.Pro133Gln)
c.457C>A
c.1589C>A (p.Pro530Gln)
c.2717C>A (p.Pro906Gln)
c.2897C>A (p.Pro966Gln)
c.2564C>A (p.Pro855Gln)
7g.117603681C=CA1737375101CFTRc.2807C= (p.Pro936=)
c.*2521C= (n.*2521C=)
c.2624C= (p.Pro875=)
c.*1107C= (n.*1107C=)
c.*2631C= (n.*2631C=)
c.2381C= (p.Pro794=)
c.398C= (p.Pro133=)
c.457C=
c.1589C= (p.Pro530=)
c.2717C= (p.Pro906=)
c.2897C= (p.Pro966=)
c.2564C= (p.Pro855=)
7g.117603681C>GCA368986971CFTRc.2807C>G (p.Pro936Arg)
c.*2521C>G (n.*2521C>G)
c.2624C>G (p.Pro875Arg)
c.*1107C>G (n.*1107C>G)
c.*2631C>G (n.*2631C>G)
c.2381C>G (p.Pro794Arg)
c.398C>G (p.Pro133Arg)
c.457C>G
c.1589C>G (p.Pro530Arg)
c.2717C>G (p.Pro906Arg)
c.2897C>G (p.Pro966Arg)
c.2564C>G (p.Pro855Arg)
7g.117603681C>TCA368986969CFTRc.2807C>T (p.Pro936Leu)
c.*2521C>T (n.*2521C>T)
c.2624C>T (p.Pro875Leu)
c.*1107C>T (n.*1107C>T)
c.*2631C>T (n.*2631C>T)
c.2381C>T (p.Pro794Leu)
c.398C>T (p.Pro133Leu)
c.457C>T
c.1589C>T (p.Pro530Leu)
c.2717C>T (p.Pro906Leu)
c.2897C>T (p.Pro966Leu)
c.2564C>T (p.Pro855Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603682A=CA1737375109CFTRc.2808A= (p.Pro936=)
c.*2522A= (n.*2522A=)
c.2625A= (p.Pro875=)
c.*1108A= (n.*1108A=)
c.*2632A= (n.*2632A=)
c.2382A= (p.Pro794=)
c.399A= (p.Pro133=)
c.458A=
c.1590A= (p.Pro530=)
c.2718A= (p.Pro906=)
c.2898A= (p.Pro966=)
c.2565A= (p.Pro855=)
7g.117603682A>CCA457227986CFTRc.2808A>C (p.Pro936=)
c.*2522A>C (n.*2522A>C)
c.2625A>C (p.Pro875=)
c.*1108A>C (n.*1108A>C)
c.*2632A>C (n.*2632A>C)
c.2382A>C (p.Pro794=)
c.399A>C (p.Pro133=)
c.458A>C
c.1590A>C (p.Pro530=)
c.2718A>C (p.Pro906=)
c.2898A>C (p.Pro966=)
c.2565A>C (p.Pro855=)
7g.117603682A>GCA326931CFTRc.2808A>G (p.Pro936=)
c.*2522A>G (n.*2522A>G)
c.2625A>G (p.Pro875=)
c.*1108A>G (n.*1108A>G)
c.*2632A>G (n.*2632A>G)
c.2382A>G (p.Pro794=)
c.399A>G (p.Pro133=)
c.458A>G
c.1590A>G (p.Pro530=)
c.2718A>G (p.Pro906=)
c.2898A>G (p.Pro966=)
c.2565A>G (p.Pro855=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603682A>TCA457227987CFTRc.2808A>T (p.Pro936=)
c.*2522A>T (n.*2522A>T)
c.2625A>T (p.Pro875=)
c.*1108A>T (n.*1108A>T)
c.*2632A>T (n.*2632A>T)
c.2382A>T (p.Pro794=)
c.399A>T (p.Pro133=)
c.458A>T
c.1590A>T (p.Pro530=)
c.2718A>T (p.Pro906=)
c.2898A>T (p.Pro966=)
c.2565A>T (p.Pro855=)
7g.117603683C>ACA368986978CFTRc.2809C>A (p.Leu937Met)
c.*2523C>A (n.*2523C>A)
c.2626C>A (p.Leu876Met)
c.*1109C>A (n.*1109C>A)
c.*2633C>A (n.*2633C>A)
c.2383C>A (p.Leu795Met)
c.400C>A (p.Leu134Met)
c.459C>A
c.1591C>A (p.Leu531Met)
c.2719C>A (p.Leu907Met)
c.2899C>A (p.Leu967Met)
c.2566C>A (p.Leu856Met)
7g.117603683C=CA1737375113CFTRc.2809C= (p.Leu937=)
c.*2523C= (n.*2523C=)
c.2626C= (p.Leu876=)
c.*1109C= (n.*1109C=)
c.*2633C= (n.*2633C=)
c.2383C= (p.Leu795=)
c.400C= (p.Leu134=)
c.459C=
c.1591C= (p.Leu531=)
c.2719C= (p.Leu907=)
c.2899C= (p.Leu967=)
c.2566C= (p.Leu856=)
7g.117603683C>GCA368986976CFTRc.2809C>G (p.Leu937Val)
c.*2523C>G (n.*2523C>G)
c.2626C>G (p.Leu876Val)
c.*1109C>G (n.*1109C>G)
c.*2633C>G (n.*2633C>G)
c.2383C>G (p.Leu795Val)
c.400C>G (p.Leu134Val)
c.459C>G
c.1591C>G (p.Leu531Val)
c.2719C>G (p.Leu907Val)
c.2899C>G (p.Leu967Val)
c.2566C>G (p.Leu856Val)
 ClinVar gnomAD v4
7g.117603683C>TCA457227988CFTRc.2809C>T (p.Leu937=)
c.*2523C>T (n.*2523C>T)
c.2626C>T (p.Leu876=)
c.*1109C>T (n.*1109C>T)
c.*2633C>T (n.*2633C>T)
c.2383C>T (p.Leu795=)
c.400C>T (p.Leu134=)
c.459C>T
c.1591C>T (p.Leu531=)
c.2719C>T (p.Leu907=)
c.2899C>T (p.Leu967=)
c.2566C>T (p.Leu856=)
7g.117603683_117603686delinsCTGGCA1737375114CFTRc.2809_2812delinsCTGG (p.Leu937=)
c.*2523_*2526delinsCTGG (n.*2523_*2526delinsCTGG)
c.2626_2629delinsCTGG (p.Leu876=)
c.*1109_*1112delinsCTGG (n.*1109_*1112delinsCTGG)
c.*2633_*2636delinsCTGG (n.*2633_*2636delinsCTGG)
c.2383_2386delinsCTGG (p.Leu795=)
c.400_403delinsCTGG (p.Leu134=)
c.459_462delinsCTGG
c.1591_1594delinsCTGG (p.Leu531=)
c.2719_2722delinsCTGG (p.Leu907=)
c.2899_2902delinsCTGG (p.Leu967=)
c.2566_2569delinsCTGG (p.Leu856=)
7g.117603684T>ACA368986985CFTRc.2810T>A (p.Leu937Gln)
c.*2524T>A (n.*2524T>A)
c.2627T>A (p.Leu876Gln)
c.*1110T>A (n.*1110T>A)
c.*2634T>A (n.*2634T>A)
c.2384T>A (p.Leu795Gln)
c.401T>A (p.Leu134Gln)
c.460T>A
c.1592T>A (p.Leu531Gln)
c.2720T>A (p.Leu907Gln)
c.2900T>A (p.Leu967Gln)
c.2567T>A (p.Leu856Gln)
 gnomAD v4
7g.117603684T>CCA368986980CFTRc.2810T>C (p.Leu937Pro)
c.*2524T>C (n.*2524T>C)
c.2627T>C (p.Leu876Pro)
c.*1110T>C (n.*1110T>C)
c.*2634T>C (n.*2634T>C)
c.2384T>C (p.Leu795Pro)
c.401T>C (p.Leu134Pro)
c.460T>C
c.1592T>C (p.Leu531Pro)
c.2720T>C (p.Leu907Pro)
c.2900T>C (p.Leu967Pro)
c.2567T>C (p.Leu856Pro)
 ClinVar
7g.117603684T>GCA368986984CFTRc.2810T>G (p.Leu937Arg)
c.*2524T>G (n.*2524T>G)
c.2627T>G (p.Leu876Arg)
c.*1110T>G (n.*1110T>G)
c.*2634T>G (n.*2634T>G)
c.2384T>G (p.Leu795Arg)
c.401T>G (p.Leu134Arg)
c.460T>G
c.1592T>G (p.Leu531Arg)
c.2720T>G (p.Leu907Arg)
c.2900T>G (p.Leu967Arg)
c.2567T>G (p.Leu856Arg)
7g.117603684T=CA1737375131CFTRc.2810T= (p.Leu937=)
c.*2524T= (n.*2524T=)
c.2627T= (p.Leu876=)
c.*1110T= (n.*1110T=)
c.*2634T= (n.*2634T=)
c.2384T= (p.Leu795=)
c.401T= (p.Leu134=)
c.460T=
c.1592T= (p.Leu531=)
c.2720T= (p.Leu907=)
c.2900T= (p.Leu967=)
c.2567T= (p.Leu856=)
7g.117603684dupCA260224CFTRc.2810dup (p.Val938GlyfsTer?)
c.*2524dup (n.*2524dup)
c.2627dup (p.Val877GlyfsTer?)
c.*1110dup (n.*1110dup)
c.*2634dup (n.*2634dup)
c.2384dup (p.Val796GlyfsTer?)
c.401dup (p.Val135GlyfsTer?)
c.460dup
c.1592dup (p.Val532GlyfsTer?)
c.2720dup (p.Val908GlyfsTer?)
c.2900dup (p.Val968GlyfsTer?)
c.2567dup (p.Val857GlyfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603686_117603688delCA577680775CFTRc.2812_2814del (p.Val938del)
c.*2526_*2528del (n.*2526_*2528del)
c.2629_2631del (p.Val877del)
c.*1112_*1114del (n.*1112_*1114del)
c.*2636_*2638del (n.*2636_*2638del)
c.2386_2388del (p.Val796del)
c.403_405del (p.Val135del)
c.462_464del
c.1594_1596del (p.Val532del)
c.2722_2724del (p.Val908del)
c.2902_2904del (p.Val968del)
c.2569_2571del (p.Val857del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603685G>ACA457227989CFTRc.2811G>A (p.Leu937=)
c.*2525G>A (n.*2525G>A)
c.2628G>A (p.Leu876=)
c.*1111G>A (n.*1111G>A)
c.*2635G>A (n.*2635G>A)
c.2385G>A (p.Leu795=)
c.402G>A (p.Leu134=)
c.461G>A
c.1593G>A (p.Leu531=)
c.2721G>A (p.Leu907=)
c.2901G>A (p.Leu967=)
c.2568G>A (p.Leu856=)
7g.117603685G>CCA457227990CFTRc.2811G>C (p.Leu937=)
c.*2525G>C (n.*2525G>C)
c.2628G>C (p.Leu876=)
c.*1111G>C (n.*1111G>C)
c.*2635G>C (n.*2635G>C)
c.2385G>C (p.Leu795=)
c.402G>C (p.Leu134=)
c.461G>C
c.1593G>C (p.Leu531=)
c.2721G>C (p.Leu907=)
c.2901G>C (p.Leu967=)
c.2568G>C (p.Leu856=)
7g.117603685G>TCA457227991CFTRc.2811G>T (p.Leu937=)
c.*2525G>T (n.*2525G>T)
c.2628G>T (p.Leu876=)
c.*1111G>T (n.*1111G>T)
c.*2635G>T (n.*2635G>T)
c.2385G>T (p.Leu795=)
c.402G>T (p.Leu134=)
c.461G>T
c.1593G>T (p.Leu531=)
c.2721G>T (p.Leu907=)
c.2901G>T (p.Leu967=)
c.2568G>T (p.Leu856=)
 ClinVar
7g.117603686dupCA913190198CFTRc.2812dup (p.Val938GlyfsTer?)
c.*2526dup (n.*2526dup)
c.2629dup (p.Val877GlyfsTer?)
c.*1112dup (n.*1112dup)
c.*2636dup (n.*2636dup)
c.2386dup (p.Val796GlyfsTer?)
c.403dup (p.Val135GlyfsTer?)
c.462dup
c.1594dup (p.Val532GlyfsTer?)
c.2722dup (p.Val908GlyfsTer?)
c.2902dup (p.Val968GlyfsTer?)
c.2569dup (p.Val857GlyfsTer?)
 ClinVar dbSNP
7g.117603686G>ACA164960239CFTRc.2812G>A (p.Val938Met)
c.*2526G>A (n.*2526G>A)
c.2629G>A (p.Val877Met)
c.*1112G>A (n.*1112G>A)
c.*2636G>A (n.*2636G>A)
c.2386G>A (p.Val796Met)
c.403G>A (p.Val135Met)
c.462G>A
c.1594G>A (p.Val532Met)
c.2722G>A (p.Val908Met)
c.2902G>A (p.Val968Met)
c.2569G>A (p.Val857Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603686G>CCA4451291CFTRc.2812G>C (p.Val938Leu)
c.*2526G>C (n.*2526G>C)
c.2629G>C (p.Val877Leu)
c.*1112G>C (n.*1112G>C)
c.*2636G>C (n.*2636G>C)
c.2386G>C (p.Val796Leu)
c.403G>C (p.Val135Leu)
c.462G>C
c.1594G>C (p.Val532Leu)
c.2722G>C (p.Val908Leu)
c.2902G>C (p.Val968Leu)
c.2569G>C (p.Val857Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603686G=CA1737375160CFTRc.2812G= (p.Val938=)
c.*2526G= (n.*2526G=)
c.2629G= (p.Val877=)
c.*1112G= (n.*1112G=)
c.*2636G= (n.*2636G=)
c.2386G= (p.Val796=)
c.403G= (p.Val135=)
c.462G=
c.1594G= (p.Val532=)
c.2722G= (p.Val908=)
c.2902G= (p.Val968=)
c.2569G= (p.Val857=)
7g.117603686G>TCA4451292CFTRc.2812G>T (p.Val938Leu)
c.*2526G>T (n.*2526G>T)
c.2629G>T (p.Val877Leu)
c.*1112G>T (n.*1112G>T)
c.*2636G>T (n.*2636G>T)
c.2386G>T (p.Val796Leu)
c.403G>T (p.Val135Leu)
c.462G>T
c.1594G>T (p.Val532Leu)
c.2722G>T (p.Val908Leu)
c.2902G>T (p.Val968Leu)
c.2569G>T (p.Val857Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603687T>ACA368986997CFTRc.2813T>A (p.Val938Glu)
c.*2527T>A (n.*2527T>A)
c.2630T>A (p.Val877Glu)
c.*1113T>A (n.*1113T>A)
c.*2637T>A (n.*2637T>A)
c.2387T>A (p.Val796Glu)
c.404T>A (p.Val135Glu)
c.463T>A
c.1595T>A (p.Val532Glu)
c.2723T>A (p.Val908Glu)
c.2903T>A (p.Val968Glu)
c.2570T>A (p.Val857Glu)
7g.117603687T>CCA368987000CFTRc.2813T>C (p.Val938Ala)
c.*2527T>C (n.*2527T>C)
c.2630T>C (p.Val877Ala)
c.*1113T>C (n.*1113T>C)
c.*2637T>C (n.*2637T>C)
c.2387T>C (p.Val796Ala)
c.404T>C (p.Val135Ala)
c.463T>C
c.1595T>C (p.Val532Ala)
c.2723T>C (p.Val908Ala)
c.2903T>C (p.Val968Ala)
c.2570T>C (p.Val857Ala)
7g.117603687T>GCA260225CFTRc.2813T>G (p.Val938Gly)
c.*2527T>G (n.*2527T>G)
c.2630T>G (p.Val877Gly)
c.*1113T>G (n.*1113T>G)
c.*2637T>G (n.*2637T>G)
c.2387T>G (p.Val796Gly)
c.404T>G (p.Val135Gly)
c.463T>G
c.1595T>G (p.Val532Gly)
c.2723T>G (p.Val908Gly)
c.2903T>G (p.Val968Gly)
c.2570T>G (p.Val857Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603687T=CA1737375168CFTRc.2813T= (p.Val938=)
c.*2527T= (n.*2527T=)
c.2630T= (p.Val877=)
c.*1113T= (n.*1113T=)
c.*2637T= (n.*2637T=)
c.2387T= (p.Val796=)
c.404T= (p.Val135=)
c.463T=
c.1595T= (p.Val532=)
c.2723T= (p.Val908=)
c.2903T= (p.Val968=)
c.2570T= (p.Val857=)
7g.117603688G>ACA457227993CFTRc.2814G>A (p.Val938=)
c.*2528G>A (n.*2528G>A)
c.2631G>A (p.Val877=)
c.*1114G>A (n.*1114G>A)
c.*2638G>A (n.*2638G>A)
c.2388G>A (p.Val796=)
c.405G>A (p.Val135=)
c.464G>A
c.1596G>A (p.Val532=)
c.2724G>A (p.Val908=)
c.2904G>A (p.Val968=)
c.2571G>A (p.Val857=)
7g.117603688G>CCA457227994CFTRc.2814G>C (p.Val938=)
c.*2528G>C (n.*2528G>C)
c.2631G>C (p.Val877=)
c.*1114G>C (n.*1114G>C)
c.*2638G>C (n.*2638G>C)
c.2388G>C (p.Val796=)
c.405G>C (p.Val135=)
c.464G>C
c.1596G>C (p.Val532=)
c.2724G>C (p.Val908=)
c.2904G>C (p.Val968=)
c.2571G>C (p.Val857=)
7g.117603688G>TCA457227995CFTRc.2814G>T (p.Val938=)
c.*2528G>T (n.*2528G>T)
c.2631G>T (p.Val877=)
c.*1114G>T (n.*1114G>T)
c.*2638G>T (n.*2638G>T)
c.2388G>T (p.Val796=)
c.405G>T (p.Val135=)
c.464G>T
c.1596G>T (p.Val532=)
c.2724G>T (p.Val908=)
c.2904G>T (p.Val968=)
c.2571G>T (p.Val857=)
7g.117603689C>ACA368987005CFTRc.2815C>A (p.His939Asn)
c.*2529C>A (n.*2529C>A)
c.2632C>A (p.His878Asn)
c.*1115C>A (n.*1115C>A)
c.*2639C>A (n.*2639C>A)
c.2389C>A (p.His797Asn)
c.406C>A (p.His136Asn)
c.465C>A
c.1597C>A (p.His533Asn)
c.2725C>A (p.His909Asn)
c.2905C>A (p.His969Asn)
c.2572C>A (p.His858Asn)
7g.117603689C=CA1737375185CFTRc.2815C= (p.His939=)
c.*2529C= (n.*2529C=)
c.2632C= (p.His878=)
c.*1115C= (n.*1115C=)
c.*2639C= (n.*2639C=)
c.2389C= (p.His797=)
c.406C= (p.His136=)
c.465C=
c.1597C= (p.His533=)
c.2725C= (p.His909=)
c.2905C= (p.His969=)
c.2572C= (p.His858=)
7g.117603689C>GCA326933CFTRc.2815C>G (p.His939Asp)
c.*2529C>G (n.*2529C>G)
c.2632C>G (p.His878Asp)
c.*1115C>G (n.*1115C>G)
c.*2639C>G (n.*2639C>G)
c.2389C>G (p.His797Asp)
c.406C>G (p.His136Asp)
c.465C>G
c.1597C>G (p.His533Asp)
c.2725C>G (p.His909Asp)
c.2905C>G (p.His969Asp)
c.2572C>G (p.His858Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603689C>TCA368987010CFTRc.2815C>T (p.His939Tyr)
c.*2529C>T (n.*2529C>T)
c.2632C>T (p.His878Tyr)
c.*1115C>T (n.*1115C>T)
c.*2639C>T (n.*2639C>T)
c.2389C>T (p.His797Tyr)
c.406C>T (p.His136Tyr)
c.465C>T
c.1597C>T (p.His533Tyr)
c.2725C>T (p.His909Tyr)
c.2905C>T (p.His969Tyr)
c.2572C>T (p.His858Tyr)

Number of alleles fetched