Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117607926_117616824delCA1139532136CFTRc.2988+1173_3468+2111del
c.*2702+1173_*3182+2111del
c.2805+1173_3285+2111del
c.*1288+1173_*1843+2111del
c.2988+1173_3462+2111del
c.*2812+1173_*3292+2111del
c.2562+1173_3042+2111del
c.579+1173_1059+2111del
c.638+1173_1118+2111del
c.1770+1173_2250+2111del
c.2898+1173_3378+2111del
c.3078+1173_3558+2111del
c.2745+1173_3225+2111del
7g.117610519_117614713delCA913189831CFTRc.2989_3468del
c.*2703_*3182del
c.2806_3285del
c.*1289_*1843del
c.2989_3462del
c.*2813_*3292del
c.2563_3042del
c.580_1059del
c.639_1118del
c.1771_2250del
c.2899_3378del
c.3079_3558del
c.2746_3225del
 ClinVar
7g.117611582_117614714delCA913189834CFTRc.3141_3468+1del
c.*2855_*3182+1del
c.2958_3285+1del
c.*1441_*1843+1del
c.3141_3462+1del
c.*2965_*3292+1del
c.2715_3042+1del
c.732_1059+1del
c.791_1118+1del
c.1923_2250+1del
c.3051_3378+1del
c.3231_3558+1del
c.2898_3225+1del
 ClinVar
7g.117614649_117614665delinsTAGCCATGAATATCATGCA1737392033CFTRc.3404_3420delinsTAGCCATGAATATCATG (p.Leu1135=)
c.*3118_*3134delinsTAGCCATGAATATCATG (n.*3118_*3134delinsTAGCCATGAATATCATG)
c.3221_3237delinsTAGCCATGAATATCATG (p.Leu1074=)
c.*1779_*1795delinsTAGCCATGAATATCATG (n.*1779_*1795delinsTAGCCATGAATATCATG)
c.3398_3414delinsTAGCCATGAATATCATG (p.Leu1133=)
c.*3228_*3244delinsTAGCCATGAATATCATG (n.*3228_*3244delinsTAGCCATGAATATCATG)
c.2978_2994delinsTAGCCATGAATATCATG (p.Leu993=)
c.152_168delinsTAGCCATGAATATCATG (p.Leu51=)
c.995_1011delinsTAGCCATGAATATCATG (p.Leu332=)
c.1054_1070delinsTAGCCATGAATATCATG
c.2186_2202delinsTAGCCATGAATATCATG (p.Leu729=)
c.3314_3330delinsTAGCCATGAATATCATG (p.Leu1105=)
c.229_245delinsTAGCCATGAATATCATG
c.3494_3510delinsTAGCCATGAATATCATG (p.Leu1165=)
c.3161_3177delinsTAGCCATGAATATCATG (p.Leu1054=)
7g.117614652_117614667delCA1737392036CFTRc.3407_3422del (p.Ala1136ValfsTer7)
c.*3121_*3136del (n.*3121_*3136del)
c.3224_3239del (p.Ala1075ValfsTer7)
c.*1782_*1797del (n.*1782_*1797del)
c.3401_3416del (p.Ala1134ValfsTer7)
c.*3231_*3246del (n.*3231_*3246del)
c.2981_2996del (p.Ala994ValfsTer7)
c.155_170del (p.Ala52ValfsTer7)
c.998_1013del (p.Ala333ValfsTer7)
c.1057_1072del
c.2189_2204del (p.Ala730ValfsTer7)
c.3317_3332del (p.Ala1106ValfsTer7)
c.232_247del
c.3497_3512del (p.Ala1166ValfsTer7)
c.3164_3179del (p.Ala1055ValfsTer7)
 ClinVar dbSNP
7g.117614656_117614659delCA2580076399CFTRc.3411_3414del (p.Met1137IlefsTer3)
c.*3125_*3128del (n.*3125_*3128del)
c.3228_3231del (p.Met1076IlefsTer3)
c.*1786_*1789del (n.*1786_*1789del)
c.3405_3408del (p.Met1135IlefsTer3)
c.*3235_*3238del (n.*3235_*3238del)
c.2985_2988del (p.Met995IlefsTer3)
c.159_162del (p.Met53IlefsTer3)
c.1002_1005del (p.Met334IlefsTer3)
c.1061_1064del
c.2193_2196del (p.Met731IlefsTer3)
c.3321_3324del (p.Met1107IlefsTer3)
c.236_239del
c.3501_3504del (p.Met1167IlefsTer3)
c.3168_3171del (p.Met1056IlefsTer3)
 ClinVar
7g.117614655T>ACA368993458CFTRc.3410T>A (p.Met1137Lys)
c.*3124T>A (n.*3124T>A)
c.3227T>A (p.Met1076Lys)
c.*1785T>A (n.*1785T>A)
c.3404T>A (p.Met1135Lys)
c.*3234T>A (n.*3234T>A)
c.2984T>A (p.Met995Lys)
c.158T>A (p.Met53Lys)
c.1001T>A (p.Met334Lys)
c.1060T>A
c.2192T>A (p.Met731Lys)
c.3320T>A (p.Met1107Lys)
c.235T>A
c.3500T>A (p.Met1167Lys)
c.3167T>A (p.Met1056Lys)
7g.117614655T>CCA4451456CFTRc.3410T>C (p.Met1137Thr)
c.*3124T>C (n.*3124T>C)
c.3227T>C (p.Met1076Thr)
c.*1785T>C (n.*1785T>C)
c.3404T>C (p.Met1135Thr)
c.*3234T>C (n.*3234T>C)
c.2984T>C (p.Met995Thr)
c.158T>C (p.Met53Thr)
c.1001T>C (p.Met334Thr)
c.1060T>C
c.2192T>C (p.Met731Thr)
c.3320T>C (p.Met1107Thr)
c.235T>C
c.3500T>C (p.Met1167Thr)
c.3167T>C (p.Met1056Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614655T>GCA327172CFTRc.3410T>G (p.Met1137Arg)
c.*3124T>G (n.*3124T>G)
c.3227T>G (p.Met1076Arg)
c.*1785T>G (n.*1785T>G)
c.3404T>G (p.Met1135Arg)
c.*3234T>G (n.*3234T>G)
c.2984T>G (p.Met995Arg)
c.158T>G (p.Met53Arg)
c.1001T>G (p.Met334Arg)
c.1060T>G
c.2192T>G (p.Met731Arg)
c.3320T>G (p.Met1107Arg)
c.235T>G
c.3500T>G (p.Met1167Arg)
c.3167T>G (p.Met1056Arg)
 ClinVar dbSNP
7g.117614655T=CA1737392068CFTRc.3410T= (p.Met1137=)
c.*3124T= (n.*3124T=)
c.3227T= (p.Met1076=)
c.*1785T= (n.*1785T=)
c.3404T= (p.Met1135=)
c.*3234T= (n.*3234T=)
c.2984T= (p.Met995=)
c.158T= (p.Met53=)
c.1001T= (p.Met334=)
c.1060T=
c.2192T= (p.Met731=)
c.3320T= (p.Met1107=)
c.235T=
c.3500T= (p.Met1167=)
c.3167T= (p.Met1056=)
7g.117614656G>ACA368993465CFTRc.3411G>A (p.Met1137Ile)
c.*3125G>A (n.*3125G>A)
c.3228G>A (p.Met1076Ile)
c.*1786G>A (n.*1786G>A)
c.3405G>A (p.Met1135Ile)
c.*3235G>A (n.*3235G>A)
c.2985G>A (p.Met995Ile)
c.159G>A (p.Met53Ile)
c.1002G>A (p.Met334Ile)
c.1061G>A
c.2193G>A (p.Met731Ile)
c.3321G>A (p.Met1107Ile)
c.236G>A
c.3501G>A (p.Met1167Ile)
c.3168G>A (p.Met1056Ile)
7g.117614656G>CCA164968816CFTRc.3411G>C (p.Met1137Ile)
c.*3125G>C (n.*3125G>C)
c.3228G>C (p.Met1076Ile)
c.*1786G>C (n.*1786G>C)
c.3405G>C (p.Met1135Ile)
c.*3235G>C (n.*3235G>C)
c.2985G>C (p.Met995Ile)
c.159G>C (p.Met53Ile)
c.1002G>C (p.Met334Ile)
c.1061G>C
c.2193G>C (p.Met731Ile)
c.3321G>C (p.Met1107Ile)
c.236G>C
c.3501G>C (p.Met1167Ile)
c.3168G>C (p.Met1056Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117614656G=CA1737392079CFTRc.3411G= (p.Met1137=)
c.*3125G= (n.*3125G=)
c.3228G= (p.Met1076=)
c.*1786G= (n.*1786G=)
c.3405G= (p.Met1135=)
c.*3235G= (n.*3235G=)
c.2985G= (p.Met995=)
c.159G= (p.Met53=)
c.1002G= (p.Met334=)
c.1061G=
c.2193G= (p.Met731=)
c.3321G= (p.Met1107=)
c.236G=
c.3501G= (p.Met1167=)
c.3168G= (p.Met1056=)
7g.117614656G>TCA368993463CFTRc.3411G>T (p.Met1137Ile)
c.*3125G>T (n.*3125G>T)
c.3228G>T (p.Met1076Ile)
c.*1786G>T (n.*1786G>T)
c.3405G>T (p.Met1135Ile)
c.*3235G>T (n.*3235G>T)
c.2985G>T (p.Met995Ile)
c.159G>T (p.Met53Ile)
c.1002G>T (p.Met334Ile)
c.1061G>T
c.2193G>T (p.Met731Ile)
c.3321G>T (p.Met1107Ile)
c.236G>T
c.3501G>T (p.Met1167Ile)
c.3168G>T (p.Met1056Ile)
7g.117614657A=CA1737392084CFTRc.3412A= (p.Asn1138=)
c.*3126A= (n.*3126A=)
c.3229A= (p.Asn1077=)
c.*1787A= (n.*1787A=)
c.3406A= (p.Asn1136=)
c.*3236A= (n.*3236A=)
c.2986A= (p.Asn996=)
c.160A= (p.Asn54=)
c.1003A= (p.Asn335=)
c.1062A=
c.2194A= (p.Asn732=)
c.3322A= (p.Asn1108=)
c.237A=
c.3502A= (p.Asn1168=)
c.3169A= (p.Asn1057=)
7g.117614657A>CCA368993470CFTRc.3412A>C (p.Asn1138His)
c.*3126A>C (n.*3126A>C)
c.3229A>C (p.Asn1077His)
c.*1787A>C (n.*1787A>C)
c.3406A>C (p.Asn1136His)
c.*3236A>C (n.*3236A>C)
c.2986A>C (p.Asn996His)
c.160A>C (p.Asn54His)
c.1003A>C (p.Asn335His)
c.1062A>C
c.2194A>C (p.Asn732His)
c.3322A>C (p.Asn1108His)
c.237A>C
c.3502A>C (p.Asn1168His)
c.3169A>C (p.Asn1057His)
 dbSNP
7g.117614657A>GCA368993472CFTRc.3412A>G (p.Asn1138Asp)
c.*3126A>G (n.*3126A>G)
c.3229A>G (p.Asn1077Asp)
c.*1787A>G (n.*1787A>G)
c.3406A>G (p.Asn1136Asp)
c.*3236A>G (n.*3236A>G)
c.2986A>G (p.Asn996Asp)
c.160A>G (p.Asn54Asp)
c.1003A>G (p.Asn335Asp)
c.1062A>G
c.2194A>G (p.Asn732Asp)
c.3322A>G (p.Asn1108Asp)
c.237A>G
c.3502A>G (p.Asn1168Asp)
c.3169A>G (p.Asn1057Asp)
7g.117614657A>TCA368993474CFTRc.3412A>T (p.Asn1138Tyr)
c.*3126A>T (n.*3126A>T)
c.3229A>T (p.Asn1077Tyr)
c.*1787A>T (n.*1787A>T)
c.3406A>T (p.Asn1136Tyr)
c.*3236A>T (n.*3236A>T)
c.2986A>T (p.Asn996Tyr)
c.160A>T (p.Asn54Tyr)
c.1003A>T (p.Asn335Tyr)
c.1062A>T
c.2194A>T (p.Asn732Tyr)
c.3322A>T (p.Asn1108Tyr)
c.237A>T
c.3502A>T (p.Asn1168Tyr)
c.3169A>T (p.Asn1057Tyr)
7g.117614658A>CCA368993477CFTRc.3413A>C (p.Asn1138Thr)
c.*3127A>C (n.*3127A>C)
c.3230A>C (p.Asn1077Thr)
c.*1788A>C (n.*1788A>C)
c.3407A>C (p.Asn1136Thr)
c.*3237A>C (n.*3237A>C)
c.2987A>C (p.Asn996Thr)
c.161A>C (p.Asn54Thr)
c.1004A>C (p.Asn335Thr)
c.1063A>C
c.2195A>C (p.Asn732Thr)
c.3323A>C (p.Asn1108Thr)
c.238A>C
c.3503A>C (p.Asn1168Thr)
c.3170A>C (p.Asn1057Thr)
7g.117614658A>GCA368993480CFTRc.3413A>G (p.Asn1138Ser)
c.*3127A>G (n.*3127A>G)
c.3230A>G (p.Asn1077Ser)
c.*1788A>G (n.*1788A>G)
c.3407A>G (p.Asn1136Ser)
c.*3237A>G (n.*3237A>G)
c.2987A>G (p.Asn996Ser)
c.161A>G (p.Asn54Ser)
c.1004A>G (p.Asn335Ser)
c.1063A>G
c.2195A>G (p.Asn732Ser)
c.3323A>G (p.Asn1108Ser)
c.238A>G
c.3503A>G (p.Asn1168Ser)
c.3170A>G (p.Asn1057Ser)
 ClinVar gnomAD v4
7g.117614658A>TCA368993482CFTRc.3413A>T (p.Asn1138Ile)
c.*3127A>T (n.*3127A>T)
c.3230A>T (p.Asn1077Ile)
c.*1788A>T (n.*1788A>T)
c.3407A>T (p.Asn1136Ile)
c.*3237A>T (n.*3237A>T)
c.2987A>T (p.Asn996Ile)
c.161A>T (p.Asn54Ile)
c.1004A>T (p.Asn335Ile)
c.1063A>T
c.2195A>T (p.Asn732Ile)
c.3323A>T (p.Asn1108Ile)
c.238A>T
c.3503A>T (p.Asn1168Ile)
c.3170A>T (p.Asn1057Ile)
7g.117614659T>ACA368993485CFTRc.3414T>A (p.Asn1138Lys)
c.*3128T>A (n.*3128T>A)
c.3231T>A (p.Asn1077Lys)
c.*1789T>A (n.*1789T>A)
c.3408T>A (p.Asn1136Lys)
c.*3238T>A (n.*3238T>A)
c.2988T>A (p.Asn996Lys)
c.162T>A (p.Asn54Lys)
c.1005T>A (p.Asn335Lys)
c.1064T>A
c.2196T>A (p.Asn732Lys)
c.3324T>A (p.Asn1108Lys)
c.239T>A
c.3504T>A (p.Asn1168Lys)
c.3171T>A (p.Asn1057Lys)
7g.117614659T>CCA457230184CFTRc.3414T>C (p.Asn1138=)
c.*3128T>C (n.*3128T>C)
c.3231T>C (p.Asn1077=)
c.*1789T>C (n.*1789T>C)
c.3408T>C (p.Asn1136=)
c.*3238T>C (n.*3238T>C)
c.2988T>C (p.Asn996=)
c.162T>C (p.Asn54=)
c.1005T>C (p.Asn335=)
c.1064T>C
c.2196T>C (p.Asn732=)
c.3324T>C (p.Asn1108=)
c.239T>C
c.3504T>C (p.Asn1168=)
c.3171T>C (p.Asn1057=)
7g.117614659T>GCA368993487CFTRc.3414T>G (p.Asn1138Lys)
c.*3128T>G (n.*3128T>G)
c.3231T>G (p.Asn1077Lys)
c.*1789T>G (n.*1789T>G)
c.3408T>G (p.Asn1136Lys)
c.*3238T>G (n.*3238T>G)
c.2988T>G (p.Asn996Lys)
c.162T>G (p.Asn54Lys)
c.1005T>G (p.Asn335Lys)
c.1064T>G
c.2196T>G (p.Asn732Lys)
c.3324T>G (p.Asn1108Lys)
c.239T>G
c.3504T>G (p.Asn1168Lys)
c.3171T>G (p.Asn1057Lys)
7g.117614659_117614662delinsTATCCA1737392087CFTRc.3414_3417delinsTATC (p.Asn1138=)
c.*3128_*3131delinsTATC (n.*3128_*3131delinsTATC)
c.3231_3234delinsTATC (p.Asn1077=)
c.*1789_*1792delinsTATC (n.*1789_*1792delinsTATC)
c.3408_3411delinsTATC (p.Asn1136=)
c.*3238_*3241delinsTATC (n.*3238_*3241delinsTATC)
c.2988_2991delinsTATC (p.Asn996=)
c.162_165delinsTATC (p.Asn54=)
c.1005_1008delinsTATC (p.Asn335=)
c.1064_1067delinsTATC
c.2196_2199delinsTATC (p.Asn732=)
c.3324_3327delinsTATC (p.Asn1108=)
c.239_242delinsTATC
c.3504_3507delinsTATC (p.Asn1168=)
c.3171_3174delinsTATC (p.Asn1057=)
7g.117614660A=CA1737392096CFTRc.3415A= (p.Ile1139=)
c.*3129A= (n.*3129A=)
c.3232A= (p.Ile1078=)
c.*1790A= (n.*1790A=)
c.3409A= (p.Ile1137=)
c.*3239A= (n.*3239A=)
c.2989A= (p.Ile997=)
c.163A= (p.Ile55=)
c.1006A= (p.Ile336=)
c.1065A=
c.2197A= (p.Ile733=)
c.3325A= (p.Ile1109=)
c.240A=
c.3505A= (p.Ile1169=)
c.3172A= (p.Ile1058=)
7g.117614660A>CCA368993488CFTRc.3415A>C (p.Ile1139Leu)
c.*3129A>C (n.*3129A>C)
c.3232A>C (p.Ile1078Leu)
c.*1790A>C (n.*1790A>C)
c.3409A>C (p.Ile1137Leu)
c.*3239A>C (n.*3239A>C)
c.2989A>C (p.Ile997Leu)
c.163A>C (p.Ile55Leu)
c.1006A>C (p.Ile336Leu)
c.1065A>C
c.2197A>C (p.Ile733Leu)
c.3325A>C (p.Ile1109Leu)
c.240A>C
c.3505A>C (p.Ile1169Leu)
c.3172A>C (p.Ile1058Leu)
7g.117614660A>GCA327174CFTRc.3415A>G (p.Ile1139Val)
c.*3129A>G (n.*3129A>G)
c.3232A>G (p.Ile1078Val)
c.*1790A>G (n.*1790A>G)
c.3409A>G (p.Ile1137Val)
c.*3239A>G (n.*3239A>G)
c.2989A>G (p.Ile997Val)
c.163A>G (p.Ile55Val)
c.1006A>G (p.Ile336Val)
c.1065A>G
c.2197A>G (p.Ile733Val)
c.3325A>G (p.Ile1109Val)
c.240A>G
c.3505A>G (p.Ile1169Val)
c.3172A>G (p.Ile1058Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614660A>TCA368993491CFTRc.3415A>T (p.Ile1139Phe)
c.*3129A>T (n.*3129A>T)
c.3232A>T (p.Ile1078Phe)
c.*1790A>T (n.*1790A>T)
c.3409A>T (p.Ile1137Phe)
c.*3239A>T (n.*3239A>T)
c.2989A>T (p.Ile997Phe)
c.163A>T (p.Ile55Phe)
c.1006A>T (p.Ile336Phe)
c.1065A>T
c.2197A>T (p.Ile733Phe)
c.3325A>T (p.Ile1109Phe)
c.240A>T
c.3505A>T (p.Ile1169Phe)
c.3172A>T (p.Ile1058Phe)
7g.117614662_117614664delCA577222849CFTRc.3417_3419del (p.Ile1139del)
c.*3131_*3133del (n.*3131_*3133del)
c.3234_3236del (p.Ile1078del)
c.*1792_*1794del (n.*1792_*1794del)
c.3411_3413del (p.Ile1137del)
c.*3241_*3243del (n.*3241_*3243del)
c.2991_2993del (p.Ile997del)
c.165_167del (p.Ile55del)
c.1008_1010del (p.Ile336del)
c.1067_1069del
c.2199_2201del (p.Ile733del)
c.3327_3329del (p.Ile1109del)
c.242_244del
c.3507_3509del (p.Ile1169del)
c.3174_3176del (p.Ile1058del)
 dbSNP gnomAD v2 gnomAD v4
7g.117614661T>ACA368993494CFTRc.3416T>A (p.Ile1139Asn)
c.*3130T>A (n.*3130T>A)
c.3233T>A (p.Ile1078Asn)
c.*1791T>A (n.*1791T>A)
c.3410T>A (p.Ile1137Asn)
c.*3240T>A (n.*3240T>A)
c.2990T>A (p.Ile997Asn)
c.164T>A (p.Ile55Asn)
c.1007T>A (p.Ile336Asn)
c.1066T>A
c.2198T>A (p.Ile733Asn)
c.3326T>A (p.Ile1109Asn)
c.241T>A
c.3506T>A (p.Ile1169Asn)
c.3173T>A (p.Ile1058Asn)
7g.117614661T>CCA368993495CFTRc.3416T>C (p.Ile1139Thr)
c.*3130T>C (n.*3130T>C)
c.3233T>C (p.Ile1078Thr)
c.*1791T>C (n.*1791T>C)
c.3410T>C (p.Ile1137Thr)
c.*3240T>C (n.*3240T>C)
c.2990T>C (p.Ile997Thr)
c.164T>C (p.Ile55Thr)
c.1007T>C (p.Ile336Thr)
c.1066T>C
c.2198T>C (p.Ile733Thr)
c.3326T>C (p.Ile1109Thr)
c.241T>C
c.3506T>C (p.Ile1169Thr)
c.3173T>C (p.Ile1058Thr)
7g.117614661T>GCA368993497CFTRc.3416T>G (p.Ile1139Ser)
c.*3130T>G (n.*3130T>G)
c.3233T>G (p.Ile1078Ser)
c.*1791T>G (n.*1791T>G)
c.3410T>G (p.Ile1137Ser)
c.*3240T>G (n.*3240T>G)
c.2990T>G (p.Ile997Ser)
c.164T>G (p.Ile55Ser)
c.1007T>G (p.Ile336Ser)
c.1066T>G
c.2198T>G (p.Ile733Ser)
c.3326T>G (p.Ile1109Ser)
c.241T>G
c.3506T>G (p.Ile1169Ser)
c.3173T>G (p.Ile1058Ser)
7g.117614662C>ACA457230186CFTRc.3417C>A (p.Ile1139=)
c.*3131C>A (n.*3131C>A)
c.3234C>A (p.Ile1078=)
c.*1792C>A (n.*1792C>A)
c.3411C>A (p.Ile1137=)
c.*3241C>A (n.*3241C>A)
c.2991C>A (p.Ile997=)
c.165C>A (p.Ile55=)
c.1008C>A (p.Ile336=)
c.1067C>A
c.2199C>A (p.Ile733=)
c.3327C>A (p.Ile1109=)
c.242C>A
c.3507C>A (p.Ile1169=)
c.3174C>A (p.Ile1058=)
7g.117614662C>GCA368993499CFTRc.3417C>G (p.Ile1139Met)
c.*3131C>G (n.*3131C>G)
c.3234C>G (p.Ile1078Met)
c.*1792C>G (n.*1792C>G)
c.3411C>G (p.Ile1137Met)
c.*3241C>G (n.*3241C>G)
c.2991C>G (p.Ile997Met)
c.165C>G (p.Ile55Met)
c.1008C>G (p.Ile336Met)
c.1067C>G
c.2199C>G (p.Ile733Met)
c.3327C>G (p.Ile1109Met)
c.242C>G
c.3507C>G (p.Ile1169Met)
c.3174C>G (p.Ile1058Met)
7g.117614662C>TCA457230185CFTRc.3417C>T (p.Ile1139=)
c.*3131C>T (n.*3131C>T)
c.3234C>T (p.Ile1078=)
c.*1792C>T (n.*1792C>T)
c.3411C>T (p.Ile1137=)
c.*3241C>T (n.*3241C>T)
c.2991C>T (p.Ile997=)
c.165C>T (p.Ile55=)
c.1008C>T (p.Ile336=)
c.1067C>T
c.2199C>T (p.Ile733=)
c.3327C>T (p.Ile1109=)
c.242C>T
c.3507C>T (p.Ile1169=)
c.3174C>T (p.Ile1058=)
7g.117614662_117614665delinsCATGCA1737392104CFTRc.3417_3420delinsCATG (p.Ile1139=)
c.*3131_*3134delinsCATG (n.*3131_*3134delinsCATG)
c.3234_3237delinsCATG (p.Ile1078=)
c.*1792_*1795delinsCATG (n.*1792_*1795delinsCATG)
c.3411_3414delinsCATG (p.Ile1137=)
c.*3241_*3244delinsCATG (n.*3241_*3244delinsCATG)
c.2991_2994delinsCATG (p.Ile997=)
c.165_168delinsCATG (p.Ile55=)
c.1008_1011delinsCATG (p.Ile336=)
c.1067_1070delinsCATG
c.2199_2202delinsCATG (p.Ile733=)
c.3327_3330delinsCATG (p.Ile1109=)
c.242_245delinsCATG
c.3507_3510delinsCATG (p.Ile1169=)
c.3174_3177delinsCATG (p.Ile1058=)
7g.117614663A=CA1737392111CFTRc.3418A= (p.Met1140=)
c.*3132A= (n.*3132A=)
c.3235A= (p.Met1079=)
c.*1793A= (n.*1793A=)
c.3412A= (p.Met1138=)
c.*3242A= (n.*3242A=)
c.2992A= (p.Met998=)
c.166A= (p.Met56=)
c.1009A= (p.Met337=)
c.1068A=
c.2200A= (p.Met734=)
c.3328A= (p.Met1110=)
c.243A=
c.3508A= (p.Met1170=)
c.3175A= (p.Met1059=)
7g.117614663A>CCA368993503CFTRc.3418A>C (p.Met1140Leu)
c.*3132A>C (n.*3132A>C)
c.3235A>C (p.Met1079Leu)
c.*1793A>C (n.*1793A>C)
c.3412A>C (p.Met1138Leu)
c.*3242A>C (n.*3242A>C)
c.2992A>C (p.Met998Leu)
c.166A>C (p.Met56Leu)
c.1009A>C (p.Met337Leu)
c.1068A>C
c.2200A>C (p.Met734Leu)
c.3328A>C (p.Met1110Leu)
c.243A>C
c.3508A>C (p.Met1170Leu)
c.3175A>C (p.Met1059Leu)
 gnomAD v4
7g.117614663A>GCA4451457CFTRc.3418A>G (p.Met1140Val)
c.*3132A>G (n.*3132A>G)
c.3235A>G (p.Met1079Val)
c.*1793A>G (n.*1793A>G)
c.3412A>G (p.Met1138Val)
c.*3242A>G (n.*3242A>G)
c.2992A>G (p.Met998Val)
c.166A>G (p.Met56Val)
c.1009A>G (p.Met337Val)
c.1068A>G
c.2200A>G (p.Met734Val)
c.3328A>G (p.Met1110Val)
c.243A>G
c.3508A>G (p.Met1170Val)
c.3175A>G (p.Met1059Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614663A>TCA368993506CFTRc.3418A>T (p.Met1140Leu)
c.*3132A>T (n.*3132A>T)
c.3235A>T (p.Met1079Leu)
c.*1793A>T (n.*1793A>T)
c.3412A>T (p.Met1138Leu)
c.*3242A>T (n.*3242A>T)
c.2992A>T (p.Met998Leu)
c.166A>T (p.Met56Leu)
c.1009A>T (p.Met337Leu)
c.1068A>T
c.2200A>T (p.Met734Leu)
c.3328A>T (p.Met1110Leu)
c.243A>T
c.3508A>T (p.Met1170Leu)
c.3175A>T (p.Met1059Leu)
 ClinVar
7g.117614664_117614666delCA327176CFTRc.3419_3421del (p.Met1140del)
c.*3133_*3135del (n.*3133_*3135del)
c.3236_3238del (p.Met1079del)
c.*1794_*1796del (n.*1794_*1796del)
c.3413_3415del (p.Met1138del)
c.*3243_*3245del (n.*3243_*3245del)
c.2993_2995del (p.Met998del)
c.167_169del (p.Met56del)
c.1010_1012del (p.Met337del)
c.1069_1071del
c.2201_2203del (p.Met734del)
c.3329_3331del (p.Met1110del)
c.244_246del
c.3509_3511del (p.Met1170del)
c.3176_3178del (p.Met1059del)
 ClinVar dbSNP
7g.117614664T>ACA327178CFTRc.3419T>A (p.Met1140Lys)
c.*3133T>A (n.*3133T>A)
c.3236T>A (p.Met1079Lys)
c.*1794T>A (n.*1794T>A)
c.3413T>A (p.Met1138Lys)
c.*3243T>A (n.*3243T>A)
c.2993T>A (p.Met998Lys)
c.167T>A (p.Met56Lys)
c.1010T>A (p.Met337Lys)
c.1T>A
c.1069T>A
c.2201T>A (p.Met734Lys)
c.3329T>A (p.Met1110Lys)
c.244T>A
c.3509T>A (p.Met1170Lys)
c.3176T>A (p.Met1059Lys)
 ClinVar dbSNP
7g.117614664T>CCA368993513CFTRc.3419T>C (p.Met1140Thr)
c.*3133T>C (n.*3133T>C)
c.3236T>C (p.Met1079Thr)
c.*1794T>C (n.*1794T>C)
c.3413T>C (p.Met1138Thr)
c.*3243T>C (n.*3243T>C)
c.2993T>C (p.Met998Thr)
c.167T>C (p.Met56Thr)
c.1010T>C (p.Met337Thr)
c.1T>C
c.1069T>C
c.2201T>C (p.Met734Thr)
c.3329T>C (p.Met1110Thr)
c.244T>C
c.3509T>C (p.Met1170Thr)
c.3176T>C (p.Met1059Thr)
7g.117614664T>GCA368993511CFTRc.3419T>G (p.Met1140Arg)
c.*3133T>G (n.*3133T>G)
c.3236T>G (p.Met1079Arg)
c.*1794T>G (n.*1794T>G)
c.3413T>G (p.Met1138Arg)
c.*3243T>G (n.*3243T>G)
c.2993T>G (p.Met998Arg)
c.167T>G (p.Met56Arg)
c.1010T>G (p.Met337Arg)
c.1T>G
c.1069T>G
c.2201T>G (p.Met734Arg)
c.3329T>G (p.Met1110Arg)
c.244T>G
c.3509T>G (p.Met1170Arg)
c.3176T>G (p.Met1059Arg)
7g.117614664T=CA1737392118CFTRc.3419T= (p.Met1140=)
c.*3133T= (n.*3133T=)
c.3236T= (p.Met1079=)
c.*1794T= (n.*1794T=)
c.3413T= (p.Met1138=)
c.*3243T= (n.*3243T=)
c.2993T= (p.Met998=)
c.167T= (p.Met56=)
c.1010T= (p.Met337=)
c.1T=
c.1069T=
c.2201T= (p.Met734=)
c.3329T= (p.Met1110=)
c.244T=
c.3509T= (p.Met1170=)
c.3176T= (p.Met1059=)
7g.117614665G>ACA368993516CFTRc.3420G>A (p.Met1140Ile)
c.*3134G>A (n.*3134G>A)
c.3237G>A (p.Met1079Ile)
c.*1795G>A (n.*1795G>A)
c.3414G>A (p.Met1138Ile)
c.*3244G>A (n.*3244G>A)
c.2994G>A (p.Met998Ile)
c.168G>A (p.Met56Ile)
c.1011G>A (p.Met337Ile)
c.2G>A
c.1070G>A
c.2202G>A (p.Met734Ile)
c.3330G>A (p.Met1110Ile)
c.245G>A
c.3510G>A (p.Met1170Ile)
c.3177G>A (p.Met1059Ile)
 ClinVar dbSNP gnomAD v4
7g.117614665G>CCA368993520CFTRc.3420G>C (p.Met1140Ile)
c.*3134G>C (n.*3134G>C)
c.3237G>C (p.Met1079Ile)
c.*1795G>C (n.*1795G>C)
c.3414G>C (p.Met1138Ile)
c.*3244G>C (n.*3244G>C)
c.2994G>C (p.Met998Ile)
c.168G>C (p.Met56Ile)
c.1011G>C (p.Met337Ile)
c.2G>C
c.1070G>C
c.2202G>C (p.Met734Ile)
c.3330G>C (p.Met1110Ile)
c.245G>C
c.3510G>C (p.Met1170Ile)
c.3177G>C (p.Met1059Ile)
 gnomAD v4
7g.117614665G=CA1737392124CFTRc.3420G= (p.Met1140=)
c.*3134G= (n.*3134G=)
c.3237G= (p.Met1079=)
c.*1795G= (n.*1795G=)
c.3414G= (p.Met1138=)
c.*3244G= (n.*3244G=)
c.2994G= (p.Met998=)
c.168G= (p.Met56=)
c.1011G= (p.Met337=)
c.2G=
c.1070G=
c.2202G= (p.Met734=)
c.3330G= (p.Met1110=)
c.245G=
c.3510G= (p.Met1170=)
c.3177G= (p.Met1059=)
7g.117614665G>TCA368993518CFTRc.3420G>T (p.Met1140Ile)
c.*3134G>T (n.*3134G>T)
c.3237G>T (p.Met1079Ile)
c.*1795G>T (n.*1795G>T)
c.3414G>T (p.Met1138Ile)
c.*3244G>T (n.*3244G>T)
c.2994G>T (p.Met998Ile)
c.168G>T (p.Met56Ile)
c.1011G>T (p.Met337Ile)
c.2G>T
c.1070G>T
c.2202G>T (p.Met734Ile)
c.3330G>T (p.Met1110Ile)
c.245G>T
c.3510G>T (p.Met1170Ile)
c.3177G>T (p.Met1059Ile)
7g.117614666A=CA1737392129CFTRc.3421A= (p.Ser1141=)
c.*3135A= (n.*3135A=)
c.3238A= (p.Ser1080=)
c.*1796A= (n.*1796A=)
c.3415A= (p.Ser1139=)
c.*3245A= (n.*3245A=)
c.2995A= (p.Ser999=)
c.169A= (p.Ser57=)
c.1012A= (p.Ser338=)
c.3A=
c.1071A=
c.2203A= (p.Ser735=)
c.3331A= (p.Ser1111=)
c.246A=
c.3511A= (p.Ser1171=)
c.3178A= (p.Ser1060=)
7g.117614666A>CCA368993523CFTRc.3421A>C (p.Ser1141Arg)
c.*3135A>C (n.*3135A>C)
c.3238A>C (p.Ser1080Arg)
c.*1796A>C (n.*1796A>C)
c.3415A>C (p.Ser1139Arg)
c.*3245A>C (n.*3245A>C)
c.2995A>C (p.Ser999Arg)
c.169A>C (p.Ser57Arg)
c.1012A>C (p.Ser338Arg)
c.3A>C
c.1071A>C
c.2203A>C (p.Ser735Arg)
c.3331A>C (p.Ser1111Arg)
c.246A>C
c.3511A>C (p.Ser1171Arg)
c.3178A>C (p.Ser1060Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.117614666A>GCA368993526CFTRc.3421A>G (p.Ser1141Gly)
c.*3135A>G (n.*3135A>G)
c.3238A>G (p.Ser1080Gly)
c.*1796A>G (n.*1796A>G)
c.3415A>G (p.Ser1139Gly)
c.*3245A>G (n.*3245A>G)
c.2995A>G (p.Ser999Gly)
c.169A>G (p.Ser57Gly)
c.1012A>G (p.Ser338Gly)
c.3A>G
c.1071A>G
c.2203A>G (p.Ser735Gly)
c.3331A>G (p.Ser1111Gly)
c.246A>G
c.3511A>G (p.Ser1171Gly)
c.3178A>G (p.Ser1060Gly)
7g.117614666A>TCA368993528CFTRc.3421A>T (p.Ser1141Cys)
c.*3135A>T (n.*3135A>T)
c.3238A>T (p.Ser1080Cys)
c.*1796A>T (n.*1796A>T)
c.3415A>T (p.Ser1139Cys)
c.*3245A>T (n.*3245A>T)
c.2995A>T (p.Ser999Cys)
c.169A>T (p.Ser57Cys)
c.1012A>T (p.Ser338Cys)
c.3A>T
c.1071A>T
c.2203A>T (p.Ser735Cys)
c.3331A>T (p.Ser1111Cys)
c.246A>T
c.3511A>T (p.Ser1171Cys)
c.3178A>T (p.Ser1060Cys)
7g.117614666_117614669dupCA327180CFTRc.3421_3424dup (p.Thr1142LysfsTer15)
c.*3135_*3138dup (n.*3135_*3138dup)
c.3238_3241dup (p.Thr1081LysfsTer15)
c.*1796_*1799dup (n.*1796_*1799dup)
c.3415_3418dup (p.Thr1140LysfsTer15)
c.*3245_*3248dup (n.*3245_*3248dup)
c.2995_2998dup (p.Thr1000LysfsTer15)
c.169_172dup (p.Thr58LysfsTer15)
c.1012_1015dup (p.Thr339LysfsTer15)
c.3_6dup
c.1071_1074dup
c.2203_2206dup (p.Thr736LysfsTer15)
c.3331_3334dup (p.Thr1112LysfsTer15)
c.246_249dup
c.3511_3514dup (p.Thr1172LysfsTer15)
c.3178_3181dup (p.Thr1061LysfsTer15)
 ClinVar dbSNP
7g.117614667G>ACA368993530CFTRc.3422G>A (p.Ser1141Asn)
c.*3136G>A (n.*3136G>A)
c.3239G>A (p.Ser1080Asn)
c.*1797G>A (n.*1797G>A)
c.3416G>A (p.Ser1139Asn)
c.*3246G>A (n.*3246G>A)
c.2996G>A (p.Ser999Asn)
c.170G>A (p.Ser57Asn)
c.1013G>A (p.Ser338Asn)
c.4G>A
c.1072G>A
c.2204G>A (p.Ser735Asn)
c.3332G>A (p.Ser1111Asn)
c.247G>A
c.3512G>A (p.Ser1171Asn)
c.3179G>A (p.Ser1060Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.117614667G>CCA368993532CFTRc.3422G>C (p.Ser1141Thr)
c.*3136G>C (n.*3136G>C)
c.3239G>C (p.Ser1080Thr)
c.*1797G>C (n.*1797G>C)
c.3416G>C (p.Ser1139Thr)
c.*3246G>C (n.*3246G>C)
c.2996G>C (p.Ser999Thr)
c.170G>C (p.Ser57Thr)
c.1013G>C (p.Ser338Thr)
c.4G>C
c.1072G>C
c.2204G>C (p.Ser735Thr)
c.3332G>C (p.Ser1111Thr)
c.247G>C
c.3512G>C (p.Ser1171Thr)
c.3179G>C (p.Ser1060Thr)
7g.117614667G=CA1737392139CFTRc.3422G= (p.Ser1141=)
c.*3136G= (n.*3136G=)
c.3239G= (p.Ser1080=)
c.*1797G= (n.*1797G=)
c.3416G= (p.Ser1139=)
c.*3246G= (n.*3246G=)
c.2996G= (p.Ser999=)
c.170G= (p.Ser57=)
c.1013G= (p.Ser338=)
c.4G=
c.1072G=
c.2204G= (p.Ser735=)
c.3332G= (p.Ser1111=)
c.247G=
c.3512G= (p.Ser1171=)
c.3179G= (p.Ser1060=)
7g.117614667G>TCA368993534CFTRc.3422G>T (p.Ser1141Ile)
c.*3136G>T (n.*3136G>T)
c.3239G>T (p.Ser1080Ile)
c.*1797G>T (n.*1797G>T)
c.3416G>T (p.Ser1139Ile)
c.*3246G>T (n.*3246G>T)
c.2996G>T (p.Ser999Ile)
c.170G>T (p.Ser57Ile)
c.1013G>T (p.Ser338Ile)
c.4G>T
c.1072G>T
c.2204G>T (p.Ser735Ile)
c.3332G>T (p.Ser1111Ile)
c.247G>T
c.3512G>T (p.Ser1171Ile)
c.3179G>T (p.Ser1060Ile)
 COSMIC
7g.117614668T>ACA4451458CFTRc.3423T>A (p.Ser1141Arg)
c.*3137T>A (n.*3137T>A)
c.3240T>A (p.Ser1080Arg)
c.*1798T>A (n.*1798T>A)
c.3417T>A (p.Ser1139Arg)
c.*3247T>A (n.*3247T>A)
c.2997T>A (p.Ser999Arg)
c.171T>A (p.Ser57Arg)
c.1014T>A (p.Ser338Arg)
c.5T>A
c.1073T>A
c.2205T>A (p.Ser735Arg)
c.3333T>A (p.Ser1111Arg)
c.248T>A
c.3513T>A (p.Ser1171Arg)
c.3180T>A (p.Ser1060Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614668T>CCA457230187CFTRc.3423T>C (p.Ser1141=)
c.*3137T>C (n.*3137T>C)
c.3240T>C (p.Ser1080=)
c.*1798T>C (n.*1798T>C)
c.3417T>C (p.Ser1139=)
c.*3247T>C (n.*3247T>C)
c.2997T>C (p.Ser999=)
c.171T>C (p.Ser57=)
c.1014T>C (p.Ser338=)
c.5T>C
c.1073T>C
c.2205T>C (p.Ser735=)
c.3333T>C (p.Ser1111=)
c.248T>C
c.3513T>C (p.Ser1171=)
c.3180T>C (p.Ser1060=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117614668T>GCA368993538CFTRc.3423T>G (p.Ser1141Arg)
c.*3137T>G (n.*3137T>G)
c.3240T>G (p.Ser1080Arg)
c.*1798T>G (n.*1798T>G)
c.3417T>G (p.Ser1139Arg)
c.*3247T>G (n.*3247T>G)
c.2997T>G (p.Ser999Arg)
c.171T>G (p.Ser57Arg)
c.1014T>G (p.Ser338Arg)
c.5T>G
c.1073T>G
c.2205T>G (p.Ser735Arg)
c.3333T>G (p.Ser1111Arg)
c.248T>G
c.3513T>G (p.Ser1171Arg)
c.3180T>G (p.Ser1060Arg)
 ClinVar dbSNP
7g.117614668T=CA1737392146CFTRc.3423T= (p.Ser1141=)
c.*3137T= (n.*3137T=)
c.3240T= (p.Ser1080=)
c.*1798T= (n.*1798T=)
c.3417T= (p.Ser1139=)
c.*3247T= (n.*3247T=)
c.2997T= (p.Ser999=)
c.171T= (p.Ser57=)
c.1014T= (p.Ser338=)
c.5T=
c.1073T=
c.2205T= (p.Ser735=)
c.3333T= (p.Ser1111=)
c.248T=
c.3513T= (p.Ser1171=)
c.3180T= (p.Ser1060=)
7g.117614672_117614673insATCACATTAAATTTACATCA1737392147CFTRc.3427_3428insATCACATTAAATTTACAT (p.Thr1142_Leu1143insTyrHisIleLysPheThr)
c.*3141_*3142insATCACATTAAATTTACAT (n.*3141_*3142insATCACATTAAATTTACAT)
c.3244_3245insATCACATTAAATTTACAT (p.Thr1081_Leu1082insTyrHisIleLysPheThr)
c.*1802_*1803insATCACATTAAATTTACAT (n.*1802_*1803insATCACATTAAATTTACAT)
c.3421_3422insATCACATTAAATTTACAT (p.Thr1140_Leu1141insTyrHisIleLysPheThr)
c.*3251_*3252insATCACATTAAATTTACAT (n.*3251_*3252insATCACATTAAATTTACAT)
c.3001_3002insATCACATTAAATTTACAT (p.Thr1000_Leu1001insTyrHisIleLysPheThr)
c.175_176insATCACATTAAATTTACAT (p.Thr58_Leu59insTyrHisIleLysPheThr)
c.1018_1019insATCACATTAAATTTACAT (p.Thr339_Leu340insTyrHisIleLysPheThr)
c.9_10insATCACATTAAATTTACAT
c.1077_1078insATCACATTAAATTTACAT
c.2209_2210insATCACATTAAATTTACAT (p.Thr736_Leu737insTyrHisIleLysPheThr)
c.3337_3338insATCACATTAAATTTACAT (p.Thr1112_Leu1113insTyrHisIleLysPheThr)
c.252_253insATCACATTAAATTTACAT
c.3517_3518insATCACATTAAATTTACAT (p.Thr1172_Leu1173insTyrHisIleLysPheThr)
c.3184_3185insATCACATTAAATTTACAT (p.Thr1061_Leu1062insTyrHisIleLysPheThr)
 dbSNP
7g.117614669A>CCA368993540CFTRc.3424A>C (p.Thr1142Pro)
c.*3138A>C (n.*3138A>C)
c.3241A>C (p.Thr1081Pro)
c.*1799A>C (n.*1799A>C)
c.3418A>C (p.Thr1140Pro)
c.*3248A>C (n.*3248A>C)
c.2998A>C (p.Thr1000Pro)
c.172A>C (p.Thr58Pro)
c.1015A>C (p.Thr339Pro)
c.6A>C
c.1074A>C
c.2206A>C (p.Thr736Pro)
c.3334A>C (p.Thr1112Pro)
c.249A>C
c.3514A>C (p.Thr1172Pro)
c.3181A>C (p.Thr1061Pro)
7g.117614669A>GCA368993543CFTRc.3424A>G (p.Thr1142Ala)
c.*3138A>G (n.*3138A>G)
c.3241A>G (p.Thr1081Ala)
c.*1799A>G (n.*1799A>G)
c.3418A>G (p.Thr1140Ala)
c.*3248A>G (n.*3248A>G)
c.2998A>G (p.Thr1000Ala)
c.172A>G (p.Thr58Ala)
c.1015A>G (p.Thr339Ala)
c.6A>G
c.1074A>G
c.2206A>G (p.Thr736Ala)
c.3334A>G (p.Thr1112Ala)
c.249A>G
c.3514A>G (p.Thr1172Ala)
c.3181A>G (p.Thr1061Ala)
7g.117614669A>TCA368993545CFTRc.3424A>T (p.Thr1142Ser)
c.*3138A>T (n.*3138A>T)
c.3241A>T (p.Thr1081Ser)
c.*1799A>T (n.*1799A>T)
c.3418A>T (p.Thr1140Ser)
c.*3248A>T (n.*3248A>T)
c.2998A>T (p.Thr1000Ser)
c.172A>T (p.Thr58Ser)
c.1015A>T (p.Thr339Ser)
c.6A>T
c.1074A>T
c.2206A>T (p.Thr736Ser)
c.3334A>T (p.Thr1112Ser)
c.249A>T
c.3514A>T (p.Thr1172Ser)
c.3181A>T (p.Thr1061Ser)
7g.117614670C>ACA368993548CFTRc.3425C>A (p.Thr1142Lys)
c.*3139C>A (n.*3139C>A)
c.3242C>A (p.Thr1081Lys)
c.*1800C>A (n.*1800C>A)
c.3419C>A (p.Thr1140Lys)
c.*3249C>A (n.*3249C>A)
c.2999C>A (p.Thr1000Lys)
c.173C>A (p.Thr58Lys)
c.1016C>A (p.Thr339Lys)
c.7C>A
c.1075C>A
c.2207C>A (p.Thr736Lys)
c.3335C>A (p.Thr1112Lys)
c.250C>A
c.3515C>A (p.Thr1172Lys)
c.3182C>A (p.Thr1061Lys)
7g.117614670C=CA1737392151CFTRc.3425C= (p.Thr1142=)
c.*3139C= (n.*3139C=)
c.3242C= (p.Thr1081=)
c.*1800C= (n.*1800C=)
c.3419C= (p.Thr1140=)
c.*3249C= (n.*3249C=)
c.2999C= (p.Thr1000=)
c.173C= (p.Thr58=)
c.1016C= (p.Thr339=)
c.7C=
c.1075C=
c.2207C= (p.Thr736=)
c.3335C= (p.Thr1112=)
c.250C=
c.3515C= (p.Thr1172=)
c.3182C= (p.Thr1061=)
7g.117614670C>GCA368993550CFTRc.3425C>G (p.Thr1142Arg)
c.*3139C>G (n.*3139C>G)
c.3242C>G (p.Thr1081Arg)
c.*1800C>G (n.*1800C>G)
c.3419C>G (p.Thr1140Arg)
c.*3249C>G (n.*3249C>G)
c.2999C>G (p.Thr1000Arg)
c.173C>G (p.Thr58Arg)
c.1016C>G (p.Thr339Arg)
c.7C>G
c.1075C>G
c.2207C>G (p.Thr736Arg)
c.3335C>G (p.Thr1112Arg)
c.250C>G
c.3515C>G (p.Thr1172Arg)
c.3182C>G (p.Thr1061Arg)
7g.117614670C>TCA368993552CFTRc.3425C>T (p.Thr1142Ile)
c.*3139C>T (n.*3139C>T)
c.3242C>T (p.Thr1081Ile)
c.*1800C>T (n.*1800C>T)
c.3419C>T (p.Thr1140Ile)
c.*3249C>T (n.*3249C>T)
c.2999C>T (p.Thr1000Ile)
c.173C>T (p.Thr58Ile)
c.1016C>T (p.Thr339Ile)
c.7C>T
c.1075C>T
c.2207C>T (p.Thr736Ile)
c.3335C>T (p.Thr1112Ile)
c.250C>T
c.3515C>T (p.Thr1172Ile)
c.3182C>T (p.Thr1061Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.117614671A=CA1737392155CFTRc.3426A= (p.Thr1142=)
c.*3140A= (n.*3140A=)
c.3243A= (p.Thr1081=)
c.*1801A= (n.*1801A=)
c.3420A= (p.Thr1140=)
c.*3250A= (n.*3250A=)
c.3000A= (p.Thr1000=)
c.174A= (p.Thr58=)
c.1017A= (p.Thr339=)
c.8A=
c.1076A=
c.2208A= (p.Thr736=)
c.3336A= (p.Thr1112=)
c.251A=
c.3516A= (p.Thr1172=)
c.3183A= (p.Thr1061=)
7g.117614671A>CCA457230188CFTRc.3426A>C (p.Thr1142=)
c.*3140A>C (n.*3140A>C)
c.3243A>C (p.Thr1081=)
c.*1801A>C (n.*1801A>C)
c.3420A>C (p.Thr1140=)
c.*3250A>C (n.*3250A>C)
c.3000A>C (p.Thr1000=)
c.174A>C (p.Thr58=)
c.1017A>C (p.Thr339=)
c.8A>C
c.1076A>C
c.2208A>C (p.Thr736=)
c.3336A>C (p.Thr1112=)
c.251A>C
c.3516A>C (p.Thr1172=)
c.3183A>C (p.Thr1061=)
 gnomAD v4
7g.117614671A>GCA457230189CFTRc.3426A>G (p.Thr1142=)
c.*3140A>G (n.*3140A>G)
c.3243A>G (p.Thr1081=)
c.*1801A>G (n.*1801A>G)
c.3420A>G (p.Thr1140=)
c.*3250A>G (n.*3250A>G)
c.3000A>G (p.Thr1000=)
c.174A>G (p.Thr58=)
c.1017A>G (p.Thr339=)
c.8A>G
c.1076A>G
c.2208A>G (p.Thr736=)
c.3336A>G (p.Thr1112=)
c.251A>G
c.3516A>G (p.Thr1172=)
c.3183A>G (p.Thr1061=)
 ClinVar dbSNP
7g.117614671A>TCA457230190CFTRc.3426A>T (p.Thr1142=)
c.*3140A>T (n.*3140A>T)
c.3243A>T (p.Thr1081=)
c.*1801A>T (n.*1801A>T)
c.3420A>T (p.Thr1140=)
c.*3250A>T (n.*3250A>T)
c.3000A>T (p.Thr1000=)
c.174A>T (p.Thr58=)
c.1017A>T (p.Thr339=)
c.8A>T
c.1076A>T
c.2208A>T (p.Thr736=)
c.3336A>T (p.Thr1112=)
c.251A>T
c.3516A>T (p.Thr1172=)
c.3183A>T (p.Thr1061=)
 gnomAD v4
7g.117614672T>ACA368993559CFTRc.3427T>A (p.Leu1143Met)
c.*3141T>A (n.*3141T>A)
c.3244T>A (p.Leu1082Met)
c.*1802T>A (n.*1802T>A)
c.3421T>A (p.Leu1141Met)
c.*3251T>A (n.*3251T>A)
c.3001T>A (p.Leu1001Met)
c.175T>A (p.Leu59Met)
c.1018T>A (p.Leu340Met)
c.9T>A
c.1077T>A
c.2209T>A (p.Leu737Met)
c.3337T>A (p.Leu1113Met)
c.252T>A
c.3517T>A (p.Leu1173Met)
c.3184T>A (p.Leu1062Met)
7g.117614672T>CCA164968844CFTRc.3427T>C (p.Leu1143=)
c.*3141T>C (n.*3141T>C)
c.3244T>C (p.Leu1082=)
c.*1802T>C (n.*1802T>C)
c.3421T>C (p.Leu1141=)
c.*3251T>C (n.*3251T>C)
c.3001T>C (p.Leu1001=)
c.175T>C (p.Leu59=)
c.1018T>C (p.Leu340=)
c.9T>C
c.1077T>C
c.2209T>C (p.Leu737=)
c.3337T>C (p.Leu1113=)
c.252T>C
c.3517T>C (p.Leu1173=)
c.3184T>C (p.Leu1062=)
 ClinVar dbSNP gnomAD v4
7g.117614672T>GCA368993557CFTRc.3427T>G (p.Leu1143Val)
c.*3141T>G (n.*3141T>G)
c.3244T>G (p.Leu1082Val)
c.*1802T>G (n.*1802T>G)
c.3421T>G (p.Leu1141Val)
c.*3251T>G (n.*3251T>G)
c.3001T>G (p.Leu1001Val)
c.175T>G (p.Leu59Val)
c.1018T>G (p.Leu340Val)
c.9T>G
c.1077T>G
c.2209T>G (p.Leu737Val)
c.3337T>G (p.Leu1113Val)
c.252T>G
c.3517T>G (p.Leu1173Val)
c.3184T>G (p.Leu1062Val)
7g.117614672T=CA1737392158CFTRc.3427T= (p.Leu1143=)
c.*3141T= (n.*3141T=)
c.3244T= (p.Leu1082=)
c.*1802T= (n.*1802T=)
c.3421T= (p.Leu1141=)
c.*3251T= (n.*3251T=)
c.3001T= (p.Leu1001=)
c.175T= (p.Leu59=)
c.1018T= (p.Leu340=)
c.9T=
c.1077T=
c.2209T= (p.Leu737=)
c.3337T= (p.Leu1113=)
c.252T=
c.3517T= (p.Leu1173=)
c.3184T= (p.Leu1062=)
7g.117614672_117614673insATCACATTAAATTCA1737392157CFTRc.3427_3428insATCACATTAAATT (p.Leu1143TyrfsTer17)
c.*3141_*3142insATCACATTAAATT (n.*3141_*3142insATCACATTAAATT)
c.3244_3245insATCACATTAAATT (p.Leu1082TyrfsTer17)
c.*1802_*1803insATCACATTAAATT (n.*1802_*1803insATCACATTAAATT)
c.3421_3422insATCACATTAAATT (p.Leu1141TyrfsTer17)
c.*3251_*3252insATCACATTAAATT (n.*3251_*3252insATCACATTAAATT)
c.3001_3002insATCACATTAAATT (p.Leu1001TyrfsTer17)
c.175_176insATCACATTAAATT (p.Leu59TyrfsTer17)
c.1018_1019insATCACATTAAATT (p.Leu340TyrfsTer17)
c.9_10insATCACATTAAATT
c.1077_1078insATCACATTAAATT
c.2209_2210insATCACATTAAATT (p.Leu737TyrfsTer17)
c.3337_3338insATCACATTAAATT (p.Leu1113TyrfsTer17)
c.252_253insATCACATTAAATT
c.3517_3518insATCACATTAAATT (p.Leu1173TyrfsTer17)
c.3184_3185insATCACATTAAATT (p.Leu1062TyrfsTer17)
 dbSNP
7g.117614672_117614673insATCACATTAAATTTACATTTCAATTTTATGCTAACA2556057710CFTRc.3427_3428insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1143TyrfsTer24)
c.*3141_*3142insATCACATTAAATTTACATTTCAATTTTATGCTAA (n.*3141_*3142insATCACATTAAATTTACATTTCAATTTTATGCTAA)
c.3244_3245insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1082TyrfsTer24)
c.*1802_*1803insATCACATTAAATTTACATTTCAATTTTATGCTAA (n.*1802_*1803insATCACATTAAATTTACATTTCAATTTTATGCTAA)
c.3421_3422insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1141TyrfsTer24)
c.*3251_*3252insATCACATTAAATTTACATTTCAATTTTATGCTAA (n.*3251_*3252insATCACATTAAATTTACATTTCAATTTTATGCTAA)
c.3001_3002insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1001TyrfsTer24)
c.175_176insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu59TyrfsTer24)
c.1018_1019insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu340TyrfsTer24)
c.9_10insATCACATTAAATTTACATTTCAATTTTATGCTAA
c.1077_1078insATCACATTAAATTTACATTTCAATTTTATGCTAA
c.2209_2210insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu737TyrfsTer24)
c.3337_3338insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1113TyrfsTer24)
c.252_253insATCACATTAAATTTACATTTCAATTTTATGCTAA
c.3517_3518insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1173TyrfsTer24)
c.3184_3185insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1062TyrfsTer24)
7g.117614673T>ACA368993561CFTRc.3428T>A (p.Leu1143Ter)
c.*3142T>A (n.*3142T>A)
c.3245T>A (p.Leu1082Ter)
c.*1803T>A (n.*1803T>A)
c.3422T>A (p.Leu1141Ter)
c.*3252T>A (n.*3252T>A)
c.3002T>A (p.Leu1001Ter)
c.176T>A (p.Leu59Ter)
c.1019T>A (p.Leu340Ter)
c.10T>A
c.1078T>A
c.2210T>A (p.Leu737Ter)
c.3338T>A (p.Leu1113Ter)
c.253T>A
c.3518T>A (p.Leu1173Ter)
c.3185T>A (p.Leu1062Ter)
 ClinVar
7g.117614673T>CCA368993563CFTRc.3428T>C (p.Leu1143Ser)
c.*3142T>C (n.*3142T>C)
c.3245T>C (p.Leu1082Ser)
c.*1803T>C (n.*1803T>C)
c.3422T>C (p.Leu1141Ser)
c.*3252T>C (n.*3252T>C)
c.3002T>C (p.Leu1001Ser)
c.176T>C (p.Leu59Ser)
c.1019T>C (p.Leu340Ser)
c.10T>C
c.1078T>C
c.2210T>C (p.Leu737Ser)
c.3338T>C (p.Leu1113Ser)
c.253T>C
c.3518T>C (p.Leu1173Ser)
c.3185T>C (p.Leu1062Ser)
 ClinVar dbSNP gnomAD v4
7g.117614673T>GCA368993565CFTRc.3428T>G (p.Leu1143Trp)
c.*3142T>G (n.*3142T>G)
c.3245T>G (p.Leu1082Trp)
c.*1803T>G (n.*1803T>G)
c.3422T>G (p.Leu1141Trp)
c.*3252T>G (n.*3252T>G)
c.3002T>G (p.Leu1001Trp)
c.176T>G (p.Leu59Trp)
c.1019T>G (p.Leu340Trp)
c.10T>G
c.1078T>G
c.2210T>G (p.Leu737Trp)
c.3338T>G (p.Leu1113Trp)
c.253T>G
c.3518T>G (p.Leu1173Trp)
c.3185T>G (p.Leu1062Trp)
7g.117614673T=CA1737392160CFTRc.3428T= (p.Leu1143=)
c.*3142T= (n.*3142T=)
c.3245T= (p.Leu1082=)
c.*1803T= (n.*1803T=)
c.3422T= (p.Leu1141=)
c.*3252T= (n.*3252T=)
c.3002T= (p.Leu1001=)
c.176T= (p.Leu59=)
c.1019T= (p.Leu340=)
c.10T=
c.1078T=
c.2210T= (p.Leu737=)
c.3338T= (p.Leu1113=)
c.253T=
c.3518T= (p.Leu1173=)
c.3185T= (p.Leu1062=)
7g.117614674G>ACA4451459CFTRc.3429G>A (p.Leu1143=)
c.*3143G>A (n.*3143G>A)
c.3246G>A (p.Leu1082=)
c.*1804G>A (n.*1804G>A)
c.3423G>A (p.Leu1141=)
c.*3253G>A (n.*3253G>A)
c.3003G>A (p.Leu1001=)
c.177G>A (p.Leu59=)
c.1020G>A (p.Leu340=)
c.11G>A
c.1079G>A
c.2211G>A (p.Leu737=)
c.3339G>A (p.Leu1113=)
c.254G>A
c.3519G>A (p.Leu1173=)
c.3186G>A (p.Leu1062=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614674G>CCA368993569CFTRc.3429G>C (p.Leu1143Phe)
c.*3143G>C (n.*3143G>C)
c.3246G>C (p.Leu1082Phe)
c.*1804G>C (n.*1804G>C)
c.3423G>C (p.Leu1141Phe)
c.*3253G>C (n.*3253G>C)
c.3003G>C (p.Leu1001Phe)
c.177G>C (p.Leu59Phe)
c.1020G>C (p.Leu340Phe)
c.11G>C
c.1079G>C
c.2211G>C (p.Leu737Phe)
c.3339G>C (p.Leu1113Phe)
c.254G>C
c.3519G>C (p.Leu1173Phe)
c.3186G>C (p.Leu1062Phe)
7g.117614674G=CA1737392164CFTRc.3429G= (p.Leu1143=)
c.*3143G= (n.*3143G=)
c.3246G= (p.Leu1082=)
c.*1804G= (n.*1804G=)
c.3423G= (p.Leu1141=)
c.*3253G= (n.*3253G=)
c.3003G= (p.Leu1001=)
c.177G= (p.Leu59=)
c.1020G= (p.Leu340=)
c.11G=
c.1079G=
c.2211G= (p.Leu737=)
c.3339G= (p.Leu1113=)
c.254G=
c.3519G= (p.Leu1173=)
c.3186G= (p.Leu1062=)
7g.117614674G>TCA368993571CFTRc.3429G>T (p.Leu1143Phe)
c.*3143G>T (n.*3143G>T)
c.3246G>T (p.Leu1082Phe)
c.*1804G>T (n.*1804G>T)
c.3423G>T (p.Leu1141Phe)
c.*3253G>T (n.*3253G>T)
c.3003G>T (p.Leu1001Phe)
c.177G>T (p.Leu59Phe)
c.1020G>T (p.Leu340Phe)
c.11G>T
c.1079G>T
c.2211G>T (p.Leu737Phe)
c.3339G>T (p.Leu1113Phe)
c.254G>T
c.3519G>T (p.Leu1173Phe)
c.3186G>T (p.Leu1062Phe)
 dbSNP gnomAD v3 gnomAD v4
7g.117614675C>ACA368993573CFTRc.3430C>A (p.Gln1144Lys)
c.*3144C>A (n.*3144C>A)
c.3247C>A (p.Gln1083Lys)
c.*1805C>A (n.*1805C>A)
c.3424C>A (p.Gln1142Lys)
c.*3254C>A (n.*3254C>A)
c.3004C>A (p.Gln1002Lys)
c.178C>A (p.Gln60Lys)
c.1021C>A (p.Gln341Lys)
c.12C>A
c.1080C>A
c.2212C>A (p.Gln738Lys)
c.3340C>A (p.Gln1114Lys)
c.255C>A
c.3520C>A (p.Gln1174Lys)
c.3187C>A (p.Gln1063Lys)
7g.117614675C=CA1737392170CFTRc.3430C= (p.Gln1144=)
c.*3144C= (n.*3144C=)
c.3247C= (p.Gln1083=)
c.*1805C= (n.*1805C=)
c.3424C= (p.Gln1142=)
c.*3254C= (n.*3254C=)
c.3004C= (p.Gln1002=)
c.178C= (p.Gln60=)
c.1021C= (p.Gln341=)
c.12C=
c.1080C=
c.2212C= (p.Gln738=)
c.3340C= (p.Gln1114=)
c.255C=
c.3520C= (p.Gln1174=)
c.3187C= (p.Gln1063=)
7g.117614675C>GCA368993575CFTRc.3430C>G (p.Gln1144Glu)
c.*3144C>G (n.*3144C>G)
c.3247C>G (p.Gln1083Glu)
c.*1805C>G (n.*1805C>G)
c.3424C>G (p.Gln1142Glu)
c.*3254C>G (n.*3254C>G)
c.3004C>G (p.Gln1002Glu)
c.178C>G (p.Gln60Glu)
c.1021C>G (p.Gln341Glu)
c.12C>G
c.1080C>G
c.2212C>G (p.Gln738Glu)
c.3340C>G (p.Gln1114Glu)
c.255C>G
c.3520C>G (p.Gln1174Glu)
c.3187C>G (p.Gln1063Glu)
7g.117614675C>TCA327181CFTRc.3430C>T (p.Gln1144Ter)
c.*3144C>T (n.*3144C>T)
c.3247C>T (p.Gln1083Ter)
c.*1805C>T (n.*1805C>T)
c.3424C>T (p.Gln1142Ter)
c.*3254C>T (n.*3254C>T)
c.3004C>T (p.Gln1002Ter)
c.178C>T (p.Gln60Ter)
c.1021C>T (p.Gln341Ter)
c.12C>T
c.1080C>T
c.2212C>T (p.Gln738Ter)
c.3340C>T (p.Gln1114Ter)
c.255C>T
c.3520C>T (p.Gln1174Ter)
c.3187C>T (p.Gln1063Ter)
 ClinVar dbSNP gnomAD v4
7g.117614676A>CCA368993579CFTRc.3431A>C (p.Gln1144Pro)
c.*3145A>C (n.*3145A>C)
c.3248A>C (p.Gln1083Pro)
c.*1806A>C (n.*1806A>C)
c.3425A>C (p.Gln1142Pro)
c.*3255A>C (n.*3255A>C)
c.3005A>C (p.Gln1002Pro)
c.179A>C (p.Gln60Pro)
c.1022A>C (p.Gln341Pro)
c.13A>C
c.1081A>C
c.2213A>C (p.Gln738Pro)
c.3341A>C (p.Gln1114Pro)
c.256A>C
c.3521A>C (p.Gln1174Pro)
c.3188A>C (p.Gln1063Pro)
7g.117614676A>GCA368993581CFTRc.3431A>G (p.Gln1144Arg)
c.*3145A>G (n.*3145A>G)
c.3248A>G (p.Gln1083Arg)
c.*1806A>G (n.*1806A>G)
c.3425A>G (p.Gln1142Arg)
c.*3255A>G (n.*3255A>G)
c.3005A>G (p.Gln1002Arg)
c.179A>G (p.Gln60Arg)
c.1022A>G (p.Gln341Arg)
c.13A>G
c.1081A>G
c.2213A>G (p.Gln738Arg)
c.3341A>G (p.Gln1114Arg)
c.256A>G
c.3521A>G (p.Gln1174Arg)
c.3188A>G (p.Gln1063Arg)
7g.117614676A>TCA368993583CFTRc.3431A>T (p.Gln1144Leu)
c.*3145A>T (n.*3145A>T)
c.3248A>T (p.Gln1083Leu)
c.*1806A>T (n.*1806A>T)
c.3425A>T (p.Gln1142Leu)
c.*3255A>T (n.*3255A>T)
c.3005A>T (p.Gln1002Leu)
c.179A>T (p.Gln60Leu)
c.1022A>T (p.Gln341Leu)
c.13A>T
c.1081A>T
c.2213A>T (p.Gln738Leu)
c.3341A>T (p.Gln1114Leu)
c.256A>T
c.3521A>T (p.Gln1174Leu)
c.3188A>T (p.Gln1063Leu)
7g.117614677G>ACA457230193CFTRc.3432G>A (p.Gln1144=)
c.*3146G>A (n.*3146G>A)
c.3249G>A (p.Gln1083=)
c.*1807G>A (n.*1807G>A)
c.3426G>A (p.Gln1142=)
c.*3256G>A (n.*3256G>A)
c.3006G>A (p.Gln1002=)
c.180G>A (p.Gln60=)
c.1023G>A (p.Gln341=)
c.14G>A
c.1082G>A
c.2214G>A (p.Gln738=)
c.3342G>A (p.Gln1114=)
c.257G>A
c.3522G>A (p.Gln1174=)
c.3189G>A (p.Gln1063=)
 ClinVar
7g.117614677G>CCA368993585CFTRc.3432G>C (p.Gln1144His)
c.*3146G>C (n.*3146G>C)
c.3249G>C (p.Gln1083His)
c.*1807G>C (n.*1807G>C)
c.3426G>C (p.Gln1142His)
c.*3256G>C (n.*3256G>C)
c.3006G>C (p.Gln1002His)
c.180G>C (p.Gln60His)
c.1023G>C (p.Gln341His)
c.14G>C
c.1082G>C
c.2214G>C (p.Gln738His)
c.3342G>C (p.Gln1114His)
c.257G>C
c.3522G>C (p.Gln1174His)
c.3189G>C (p.Gln1063His)
7g.117614677G=CA1737392176CFTRc.3432G= (p.Gln1144=)
c.*3146G= (n.*3146G=)
c.3249G= (p.Gln1083=)
c.*1807G= (n.*1807G=)
c.3426G= (p.Gln1142=)
c.*3256G= (n.*3256G=)
c.3006G= (p.Gln1002=)
c.180G= (p.Gln60=)
c.1023G= (p.Gln341=)
c.14G=
c.1082G=
c.2214G= (p.Gln738=)
c.3342G= (p.Gln1114=)
c.257G=
c.3522G= (p.Gln1174=)
c.3189G= (p.Gln1063=)
7g.117614677G>TCA368993588CFTRc.3432G>T (p.Gln1144His)
c.*3146G>T (n.*3146G>T)
c.3249G>T (p.Gln1083His)
c.*1807G>T (n.*1807G>T)
c.3426G>T (p.Gln1142His)
c.*3256G>T (n.*3256G>T)
c.3006G>T (p.Gln1002His)
c.180G>T (p.Gln60His)
c.1023G>T (p.Gln341His)
c.14G>T
c.1082G>T
c.2214G>T (p.Gln738His)
c.3342G>T (p.Gln1114His)
c.257G>T
c.3522G>T (p.Gln1174His)
c.3189G>T (p.Gln1063His)
 dbSNP
7g.117614678T>ACA368993590CFTRc.3433T>A (p.Trp1145Arg)
c.*3147T>A (n.*3147T>A)
c.3250T>A (p.Trp1084Arg)
c.*1808T>A (n.*1808T>A)
c.3427T>A (p.Trp1143Arg)
c.*3257T>A (n.*3257T>A)
c.3007T>A (p.Trp1003Arg)
c.181T>A (p.Trp61Arg)
c.1024T>A (p.Trp342Arg)
c.15T>A
c.1083T>A
c.2215T>A (p.Trp739Arg)
c.3343T>A (p.Trp1115Arg)
c.258T>A
c.3523T>A (p.Trp1175Arg)
c.3190T>A (p.Trp1064Arg)
7g.117614678T>CCA368993591CFTRc.3433T>C (p.Trp1145Arg)
c.*3147T>C (n.*3147T>C)
c.3250T>C (p.Trp1084Arg)
c.*1808T>C (n.*1808T>C)
c.3427T>C (p.Trp1143Arg)
c.*3257T>C (n.*3257T>C)
c.3007T>C (p.Trp1003Arg)
c.181T>C (p.Trp61Arg)
c.1024T>C (p.Trp342Arg)
c.15T>C
c.1083T>C
c.2215T>C (p.Trp739Arg)
c.3343T>C (p.Trp1115Arg)
c.258T>C
c.3523T>C (p.Trp1175Arg)
c.3190T>C (p.Trp1064Arg)
 ClinVar dbSNP gnomAD v4
7g.117614678T>GCA368993593CFTRc.3433T>G (p.Trp1145Gly)
c.*3147T>G (n.*3147T>G)
c.3250T>G (p.Trp1084Gly)
c.*1808T>G (n.*1808T>G)
c.3427T>G (p.Trp1143Gly)
c.*3257T>G (n.*3257T>G)
c.3007T>G (p.Trp1003Gly)
c.181T>G (p.Trp61Gly)
c.1024T>G (p.Trp342Gly)
c.15T>G
c.1083T>G
c.2215T>G (p.Trp739Gly)
c.3343T>G (p.Trp1115Gly)
c.258T>G
c.3523T>G (p.Trp1175Gly)
c.3190T>G (p.Trp1064Gly)
7g.117614679G>ACA368993596CFTRc.3434G>A (p.Trp1145Ter)
c.*3148G>A (n.*3148G>A)
c.3251G>A (p.Trp1084Ter)
c.*1809G>A (n.*1809G>A)
c.3428G>A (p.Trp1143Ter)
c.*3258G>A (n.*3258G>A)
c.3008G>A (p.Trp1003Ter)
c.182G>A (p.Trp61Ter)
c.1025G>A (p.Trp342Ter)
c.16G>A
c.1084G>A
c.2216G>A (p.Trp739Ter)
c.3344G>A (p.Trp1115Ter)
c.259G>A
c.3524G>A (p.Trp1175Ter)
c.3191G>A (p.Trp1064Ter)
 ClinVar dbSNP gnomAD v2
7g.117614679G>CCA368993597CFTRc.3434G>C (p.Trp1145Ser)
c.*3148G>C (n.*3148G>C)
c.3251G>C (p.Trp1084Ser)
c.*1809G>C (n.*1809G>C)
c.3428G>C (p.Trp1143Ser)
c.*3258G>C (n.*3258G>C)
c.3008G>C (p.Trp1003Ser)
c.182G>C (p.Trp61Ser)
c.1025G>C (p.Trp342Ser)
c.16G>C
c.1084G>C
c.2216G>C (p.Trp739Ser)
c.3344G>C (p.Trp1115Ser)
c.259G>C
c.3524G>C (p.Trp1175Ser)
c.3191G>C (p.Trp1064Ser)
 ClinVar
7g.117614679G=CA1737392181CFTRc.3434G= (p.Trp1145=)
c.*3148G= (n.*3148G=)
c.3251G= (p.Trp1084=)
c.*1809G= (n.*1809G=)
c.3428G= (p.Trp1143=)
c.*3258G= (n.*3258G=)
c.3008G= (p.Trp1003=)
c.182G= (p.Trp61=)
c.1025G= (p.Trp342=)
c.16G=
c.1084G=
c.2216G= (p.Trp739=)
c.3344G= (p.Trp1115=)
c.259G=
c.3524G= (p.Trp1175=)
c.3191G= (p.Trp1064=)
7g.117614679G>TCA368993600CFTRc.3434G>T (p.Trp1145Leu)
c.*3148G>T (n.*3148G>T)
c.3251G>T (p.Trp1084Leu)
c.*1809G>T (n.*1809G>T)
c.3428G>T (p.Trp1143Leu)
c.*3258G>T (n.*3258G>T)
c.3008G>T (p.Trp1003Leu)
c.182G>T (p.Trp61Leu)
c.1025G>T (p.Trp342Leu)
c.16G>T
c.1084G>T
c.2216G>T (p.Trp739Leu)
c.3344G>T (p.Trp1115Leu)
c.259G>T
c.3524G>T (p.Trp1175Leu)
c.3191G>T (p.Trp1064Leu)
7g.117614680G>ACA327183CFTRc.3435G>A (p.Trp1145Ter)
c.*3149G>A (n.*3149G>A)
c.3252G>A (p.Trp1084Ter)
c.*1810G>A (n.*1810G>A)
c.3429G>A (p.Trp1143Ter)
c.*3259G>A (n.*3259G>A)
c.3009G>A (p.Trp1003Ter)
c.183G>A (p.Trp61Ter)
c.1026G>A (p.Trp342Ter)
c.17G>A
c.1085G>A
c.2217G>A (p.Trp739Ter)
c.3345G>A (p.Trp1115Ter)
c.260G>A
c.3525G>A (p.Trp1175Ter)
c.3192G>A (p.Trp1064Ter)
 ClinVar dbSNP
7g.117614680G>CCA368993603CFTRc.3435G>C (p.Trp1145Cys)
c.*3149G>C (n.*3149G>C)
c.3252G>C (p.Trp1084Cys)
c.*1810G>C (n.*1810G>C)
c.3429G>C (p.Trp1143Cys)
c.*3259G>C (n.*3259G>C)
c.3009G>C (p.Trp1003Cys)
c.183G>C (p.Trp61Cys)
c.1026G>C (p.Trp342Cys)
c.17G>C
c.1085G>C
c.2217G>C (p.Trp739Cys)
c.3345G>C (p.Trp1115Cys)
c.260G>C
c.3525G>C (p.Trp1175Cys)
c.3192G>C (p.Trp1064Cys)
7g.117614680G=CA1737392187CFTRc.3435G= (p.Trp1145=)
c.*3149G= (n.*3149G=)
c.3252G= (p.Trp1084=)
c.*1810G= (n.*1810G=)
c.3429G= (p.Trp1143=)
c.*3259G= (n.*3259G=)
c.3009G= (p.Trp1003=)
c.183G= (p.Trp61=)
c.1026G= (p.Trp342=)
c.17G=
c.1085G=
c.2217G= (p.Trp739=)
c.3345G= (p.Trp1115=)
c.260G=
c.3525G= (p.Trp1175=)
c.3192G= (p.Trp1064=)
7g.117614680G>TCA368993605CFTRc.3435G>T (p.Trp1145Cys)
c.*3149G>T (n.*3149G>T)
c.3252G>T (p.Trp1084Cys)
c.*1810G>T (n.*1810G>T)
c.3429G>T (p.Trp1143Cys)
c.*3259G>T (n.*3259G>T)
c.3009G>T (p.Trp1003Cys)
c.183G>T (p.Trp61Cys)
c.1026G>T (p.Trp342Cys)
c.17G>T
c.1085G>T
c.2217G>T (p.Trp739Cys)
c.3345G>T (p.Trp1115Cys)
c.260G>T
c.3525G>T (p.Trp1175Cys)
c.3192G>T (p.Trp1064Cys)
7g.117614681G>ACA368993608CFTRc.3436G>A (p.Ala1146Thr)
c.*3150G>A (n.*3150G>A)
c.3253G>A (p.Ala1085Thr)
c.*1811G>A (n.*1811G>A)
c.3430G>A (p.Ala1144Thr)
c.*3260G>A (n.*3260G>A)
c.3010G>A (p.Ala1004Thr)
c.184G>A (p.Ala62Thr)
c.1027G>A (p.Ala343Thr)
c.18G>A
c.1086G>A
c.2218G>A (p.Ala740Thr)
c.3346G>A (p.Ala1116Thr)
c.261G>A
c.3526G>A (p.Ala1176Thr)
c.3193G>A (p.Ala1065Thr)
 gnomAD v4
7g.117614681G>CCA368993610CFTRc.3436G>C (p.Ala1146Pro)
c.*3150G>C (n.*3150G>C)
c.3253G>C (p.Ala1085Pro)
c.*1811G>C (n.*1811G>C)
c.3430G>C (p.Ala1144Pro)
c.*3260G>C (n.*3260G>C)
c.3010G>C (p.Ala1004Pro)
c.184G>C (p.Ala62Pro)
c.1027G>C (p.Ala343Pro)
c.18G>C
c.1086G>C
c.2218G>C (p.Ala740Pro)
c.3346G>C (p.Ala1116Pro)
c.261G>C
c.3526G>C (p.Ala1176Pro)
c.3193G>C (p.Ala1065Pro)
7g.117614681G>TCA368993611CFTRc.3436G>T (p.Ala1146Ser)
c.*3150G>T (n.*3150G>T)
c.3253G>T (p.Ala1085Ser)
c.*1811G>T (n.*1811G>T)
c.3430G>T (p.Ala1144Ser)
c.*3260G>T (n.*3260G>T)
c.3010G>T (p.Ala1004Ser)
c.184G>T (p.Ala62Ser)
c.1027G>T (p.Ala343Ser)
c.18G>T
c.1086G>T
c.2218G>T (p.Ala740Ser)
c.3346G>T (p.Ala1116Ser)
c.261G>T
c.3526G>T (p.Ala1176Ser)
c.3193G>T (p.Ala1065Ser)
7g.117614682C>ACA4451460CFTRc.3437C>A (p.Ala1146Asp)
c.*3151C>A (n.*3151C>A)
c.3254C>A (p.Ala1085Asp)
c.*1812C>A (n.*1812C>A)
c.3431C>A (p.Ala1144Asp)
c.*3261C>A (n.*3261C>A)
c.3011C>A (p.Ala1004Asp)
c.185C>A (p.Ala62Asp)
c.1028C>A (p.Ala343Asp)
c.19C>A
c.1087C>A
c.2219C>A (p.Ala740Asp)
c.3347C>A (p.Ala1116Asp)
c.262C>A
c.3527C>A (p.Ala1176Asp)
c.3194C>A (p.Ala1065Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614682C=CA1737392191CFTRc.3437C= (p.Ala1146=)
c.*3151C= (n.*3151C=)
c.3254C= (p.Ala1085=)
c.*1812C= (n.*1812C=)
c.3431C= (p.Ala1144=)
c.*3261C= (n.*3261C=)
c.3011C= (p.Ala1004=)
c.185C= (p.Ala62=)
c.1028C= (p.Ala343=)
c.19C=
c.1087C=
c.2219C= (p.Ala740=)
c.3347C= (p.Ala1116=)
c.262C=
c.3527C= (p.Ala1176=)
c.3194C= (p.Ala1065=)
7g.117614682C>GCA368993615CFTRc.3437C>G (p.Ala1146Gly)
c.*3151C>G (n.*3151C>G)
c.3254C>G (p.Ala1085Gly)
c.*1812C>G (n.*1812C>G)
c.3431C>G (p.Ala1144Gly)
c.*3261C>G (n.*3261C>G)
c.3011C>G (p.Ala1004Gly)
c.185C>G (p.Ala62Gly)
c.1028C>G (p.Ala343Gly)
c.19C>G
c.1087C>G
c.2219C>G (p.Ala740Gly)
c.3347C>G (p.Ala1116Gly)
c.262C>G
c.3527C>G (p.Ala1176Gly)
c.3194C>G (p.Ala1065Gly)
7g.117614682C>TCA368993613CFTRc.3437C>T (p.Ala1146Val)
c.*3151C>T (n.*3151C>T)
c.3254C>T (p.Ala1085Val)
c.*1812C>T (n.*1812C>T)
c.3431C>T (p.Ala1144Val)
c.*3261C>T (n.*3261C>T)
c.3011C>T (p.Ala1004Val)
c.185C>T (p.Ala62Val)
c.1028C>T (p.Ala343Val)
c.19C>T
c.1087C>T
c.2219C>T (p.Ala740Val)
c.3347C>T (p.Ala1116Val)
c.262C>T
c.3527C>T (p.Ala1176Val)
c.3194C>T (p.Ala1065Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117614682_117614683insACATATCACATTAAATTTACATTTCAATTTTACA1737392196CFTRc.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1147HisfsTer12)
c.*3151_*3152insACATATCACATTAAATTTACATTTCAATTTTA (n.*3151_*3152insACATATCACATTAAATTTACATTTCAATTTTA)
c.3254_3255insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1086HisfsTer12)
c.*1812_*1813insACATATCACATTAAATTTACATTTCAATTTTA (n.*1812_*1813insACATATCACATTAAATTTACATTTCAATTTTA)
c.3431_3432insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1145HisfsTer12)
c.*3261_*3262insACATATCACATTAAATTTACATTTCAATTTTA (n.*3261_*3262insACATATCACATTAAATTTACATTTCAATTTTA)
c.3011_3012insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1005HisfsTer12)
c.185_186insACATATCACATTAAATTTACATTTCAATTTTA (p.Val63HisfsTer12)
c.1028_1029insACATATCACATTAAATTTACATTTCAATTTTA (p.Val344HisfsTer12)
c.19_20insACATATCACATTAAATTTACATTTCAATTTTA
c.1087_1088insACATATCACATTAAATTTACATTTCAATTTTA
c.2219_2220insACATATCACATTAAATTTACATTTCAATTTTA (p.Val741HisfsTer12)
c.3347_3348insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1117HisfsTer12)
c.262_263insACATATCACATTAAATTTACATTTCAATTTTA
c.3527_3528insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1177HisfsTer12)
c.3194_3195insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1066HisfsTer12)
 dbSNP
7g.117614683T>ACA457230196CFTRc.3438T>A (p.Ala1146=)
c.*3152T>A (n.*3152T>A)
c.3255T>A (p.Ala1085=)
c.*1813T>A (n.*1813T>A)
c.3432T>A (p.Ala1144=)
c.*3262T>A (n.*3262T>A)
c.3012T>A (p.Ala1004=)
c.186T>A (p.Ala62=)
c.1029T>A (p.Ala343=)
c.20T>A
c.1088T>A
c.2220T>A (p.Ala740=)
c.3348T>A (p.Ala1116=)
c.263T>A
c.3528T>A (p.Ala1176=)
c.3195T>A (p.Ala1065=)
7g.117614683T>CCA457230194CFTRc.3438T>C (p.Ala1146=)
c.*3152T>C (n.*3152T>C)
c.3255T>C (p.Ala1085=)
c.*1813T>C (n.*1813T>C)
c.3432T>C (p.Ala1144=)
c.*3262T>C (n.*3262T>C)
c.3012T>C (p.Ala1004=)
c.186T>C (p.Ala62=)
c.1029T>C (p.Ala343=)
c.20T>C
c.1088T>C
c.2220T>C (p.Ala740=)
c.3348T>C (p.Ala1116=)
c.263T>C
c.3528T>C (p.Ala1176=)
c.3195T>C (p.Ala1065=)
7g.117614683T>GCA457230195CFTRc.3438T>G (p.Ala1146=)
c.*3152T>G (n.*3152T>G)
c.3255T>G (p.Ala1085=)
c.*1813T>G (n.*1813T>G)
c.3432T>G (p.Ala1144=)
c.*3262T>G (n.*3262T>G)
c.3012T>G (p.Ala1004=)
c.186T>G (p.Ala62=)
c.1029T>G (p.Ala343=)
c.20T>G
c.1088T>G
c.2220T>G (p.Ala740=)
c.3348T>G (p.Ala1116=)
c.263T>G
c.3528T>G (p.Ala1176=)
c.3195T>G (p.Ala1065=)
7g.117614684G>ACA327185CFTRc.3439G>A (p.Val1147Ile)
c.*3153G>A (n.*3153G>A)
c.3256G>A (p.Val1086Ile)
c.*1814G>A (n.*1814G>A)
c.3433G>A (p.Val1145Ile)
c.*3263G>A (n.*3263G>A)
c.3013G>A (p.Val1005Ile)
c.187G>A (p.Val63Ile)
c.1030G>A (p.Val344Ile)
c.21G>A
c.1089G>A
c.2221G>A (p.Val741Ile)
c.3349G>A (p.Val1117Ile)
c.264G>A
c.3529G>A (p.Val1177Ile)
c.3196G>A (p.Val1066Ile)
 ClinVar dbSNP
7g.117614684G>CCA368993621CFTRc.3439G>C (p.Val1147Leu)
c.*3153G>C (n.*3153G>C)
c.3256G>C (p.Val1086Leu)
c.*1814G>C (n.*1814G>C)
c.3433G>C (p.Val1145Leu)
c.*3263G>C (n.*3263G>C)
c.3013G>C (p.Val1005Leu)
c.187G>C (p.Val63Leu)
c.1030G>C (p.Val344Leu)
c.21G>C
c.1089G>C
c.2221G>C (p.Val741Leu)
c.3349G>C (p.Val1117Leu)
c.264G>C
c.3529G>C (p.Val1177Leu)
c.3196G>C (p.Val1066Leu)
7g.117614684G=CA1737392204CFTRc.3439G= (p.Val1147=)
c.*3153G= (n.*3153G=)
c.3256G= (p.Val1086=)
c.*1814G= (n.*1814G=)
c.3433G= (p.Val1145=)
c.*3263G= (n.*3263G=)
c.3013G= (p.Val1005=)
c.187G= (p.Val63=)
c.1030G= (p.Val344=)
c.21G=
c.1089G=
c.2221G= (p.Val741=)
c.3349G= (p.Val1117=)
c.264G=
c.3529G= (p.Val1177=)
c.3196G= (p.Val1066=)
7g.117614684G>TCA368993622CFTRc.3439G>T (p.Val1147Leu)
c.*3153G>T (n.*3153G>T)
c.3256G>T (p.Val1086Leu)
c.*1814G>T (n.*1814G>T)
c.3433G>T (p.Val1145Leu)
c.*3263G>T (n.*3263G>T)
c.3013G>T (p.Val1005Leu)
c.187G>T (p.Val63Leu)
c.1030G>T (p.Val344Leu)
c.21G>T
c.1089G>T
c.2221G>T (p.Val741Leu)
c.3349G>T (p.Val1117Leu)
c.264G>T
c.3529G>T (p.Val1177Leu)
c.3196G>T (p.Val1066Leu)
7g.117614685T>ACA368993625CFTRc.3440T>A (p.Val1147Glu)
c.*3154T>A (n.*3154T>A)
c.3257T>A (p.Val1086Glu)
c.*1815T>A (n.*1815T>A)
c.3434T>A (p.Val1145Glu)
c.*3264T>A (n.*3264T>A)
c.3014T>A (p.Val1005Glu)
c.188T>A (p.Val63Glu)
c.1031T>A (p.Val344Glu)
c.22T>A
c.1090T>A
c.2222T>A (p.Val741Glu)
c.3350T>A (p.Val1117Glu)
c.265T>A
c.3530T>A (p.Val1177Glu)
c.3197T>A (p.Val1066Glu)
 dbSNP gnomAD v2 gnomAD v4
7g.117614685T>CCA368993627CFTRc.3440T>C (p.Val1147Ala)
c.*3154T>C (n.*3154T>C)
c.3257T>C (p.Val1086Ala)
c.*1815T>C (n.*1815T>C)
c.3434T>C (p.Val1145Ala)
c.*3264T>C (n.*3264T>C)
c.3014T>C (p.Val1005Ala)
c.188T>C (p.Val63Ala)
c.1031T>C (p.Val344Ala)
c.22T>C
c.1090T>C
c.2222T>C (p.Val741Ala)
c.3350T>C (p.Val1117Ala)
c.265T>C
c.3530T>C (p.Val1177Ala)
c.3197T>C (p.Val1066Ala)
 gnomAD v4
7g.117614685T>GCA368993628CFTRc.3440T>G (p.Val1147Gly)
c.*3154T>G (n.*3154T>G)
c.3257T>G (p.Val1086Gly)
c.*1815T>G (n.*1815T>G)
c.3434T>G (p.Val1145Gly)
c.*3264T>G (n.*3264T>G)
c.3014T>G (p.Val1005Gly)
c.188T>G (p.Val63Gly)
c.1031T>G (p.Val344Gly)
c.22T>G
c.1090T>G
c.2222T>G (p.Val741Gly)
c.3350T>G (p.Val1117Gly)
c.265T>G
c.3530T>G (p.Val1177Gly)
c.3197T>G (p.Val1066Gly)
7g.117614685T=CA1737392211CFTRc.3440T= (p.Val1147=)
c.*3154T= (n.*3154T=)
c.3257T= (p.Val1086=)
c.*1815T= (n.*1815T=)
c.3434T= (p.Val1145=)
c.*3264T= (n.*3264T=)
c.3014T= (p.Val1005=)
c.188T= (p.Val63=)
c.1031T= (p.Val344=)
c.22T=
c.1090T=
c.2222T= (p.Val741=)
c.3350T= (p.Val1117=)
c.265T=
c.3530T= (p.Val1177=)
c.3197T= (p.Val1066=)
7g.117614686A=CA1737392215CFTRc.3441A= (p.Val1147=)
c.*3155A= (n.*3155A=)
c.3258A= (p.Val1086=)
c.*1816A= (n.*1816A=)
c.3435A= (p.Val1145=)
c.*3265A= (n.*3265A=)
c.3015A= (p.Val1005=)
c.189A= (p.Val63=)
c.1032A= (p.Val344=)
c.23A=
c.1091A=
c.2223A= (p.Val741=)
c.3351A= (p.Val1117=)
c.266A=
c.3531A= (p.Val1177=)
c.3198A= (p.Val1066=)
7g.117614686A>CCA457230197CFTRc.3441A>C (p.Val1147=)
c.*3155A>C (n.*3155A>C)
c.3258A>C (p.Val1086=)
c.*1816A>C (n.*1816A>C)
c.3435A>C (p.Val1145=)
c.*3265A>C (n.*3265A>C)
c.3015A>C (p.Val1005=)
c.189A>C (p.Val63=)
c.1032A>C (p.Val344=)
c.23A>C
c.1091A>C
c.2223A>C (p.Val741=)
c.3351A>C (p.Val1117=)
c.266A>C
c.3531A>C (p.Val1177=)
c.3198A>C (p.Val1066=)
7g.117614686A>GCA164968901CFTRc.3441A>G (p.Val1147=)
c.*3155A>G (n.*3155A>G)
c.3258A>G (p.Val1086=)
c.*1816A>G (n.*1816A>G)
c.3435A>G (p.Val1145=)
c.*3265A>G (n.*3265A>G)
c.3015A>G (p.Val1005=)
c.189A>G (p.Val63=)
c.1032A>G (p.Val344=)
c.23A>G
c.1091A>G
c.2223A>G (p.Val741=)
c.3351A>G (p.Val1117=)
c.266A>G
c.3531A>G (p.Val1177=)
c.3198A>G (p.Val1066=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117614686A>TCA457230198CFTRc.3441A>T (p.Val1147=)
c.*3155A>T (n.*3155A>T)
c.3258A>T (p.Val1086=)
c.*1816A>T (n.*1816A>T)
c.3435A>T (p.Val1145=)
c.*3265A>T (n.*3265A>T)
c.3015A>T (p.Val1005=)
c.189A>T (p.Val63=)
c.1032A>T (p.Val344=)
c.23A>T
c.1091A>T
c.2223A>T (p.Val741=)
c.3351A>T (p.Val1117=)
c.266A>T
c.3531A>T (p.Val1177=)
c.3198A>T (p.Val1066=)
7g.117614687A>CCA368993631CFTRc.3442A>C (p.Asn1148His)
c.*3156A>C (n.*3156A>C)
c.3259A>C (p.Asn1087His)
c.*1817A>C (n.*1817A>C)
c.3436A>C (p.Asn1146His)
c.*3266A>C (n.*3266A>C)
c.3016A>C (p.Asn1006His)
c.190A>C (p.Asn64His)
c.1033A>C (p.Asn345His)
c.24A>C
c.1092A>C
c.2224A>C (p.Asn742His)
c.3352A>C (p.Asn1118His)
c.267A>C
c.3532A>C (p.Asn1178His)
c.3199A>C (p.Asn1067His)
7g.117614687A>GCA368993634CFTRc.3442A>G (p.Asn1148Asp)
c.*3156A>G (n.*3156A>G)
c.3259A>G (p.Asn1087Asp)
c.*1817A>G (n.*1817A>G)
c.3436A>G (p.Asn1146Asp)
c.*3266A>G (n.*3266A>G)
c.3016A>G (p.Asn1006Asp)
c.190A>G (p.Asn64Asp)
c.1033A>G (p.Asn345Asp)
c.24A>G
c.1092A>G
c.2224A>G (p.Asn742Asp)
c.3352A>G (p.Asn1118Asp)
c.267A>G
c.3532A>G (p.Asn1178Asp)
c.3199A>G (p.Asn1067Asp)
7g.117614687A>TCA368993636CFTRc.3442A>T (p.Asn1148Tyr)
c.*3156A>T (n.*3156A>T)
c.3259A>T (p.Asn1087Tyr)
c.*1817A>T (n.*1817A>T)
c.3436A>T (p.Asn1146Tyr)
c.*3266A>T (n.*3266A>T)
c.3016A>T (p.Asn1006Tyr)
c.190A>T (p.Asn64Tyr)
c.1033A>T (p.Asn345Tyr)
c.24A>T
c.1092A>T
c.2224A>T (p.Asn742Tyr)
c.3352A>T (p.Asn1118Tyr)
c.267A>T
c.3532A>T (p.Asn1178Tyr)
c.3199A>T (p.Asn1067Tyr)
7g.117614688A=CA1737392222CFTRc.3443A= (p.Asn1148=)
c.*3157A= (n.*3157A=)
c.3260A= (p.Asn1087=)
c.*1818A= (n.*1818A=)
c.3437A= (p.Asn1146=)
c.*3267A= (n.*3267A=)
c.3017A= (p.Asn1006=)
c.191A= (p.Asn64=)
c.1034A= (p.Asn345=)
c.25A=
c.1093A=
c.2225A= (p.Asn742=)
c.3353A= (p.Asn1118=)
c.268A=
c.3533A= (p.Asn1178=)
c.3200A= (p.Asn1067=)
7g.117614688A>CCA368993638CFTRc.3443A>C (p.Asn1148Thr)
c.*3157A>C (n.*3157A>C)
c.3260A>C (p.Asn1087Thr)
c.*1818A>C (n.*1818A>C)
c.3437A>C (p.Asn1146Thr)
c.*3267A>C (n.*3267A>C)
c.3017A>C (p.Asn1006Thr)
c.191A>C (p.Asn64Thr)
c.1034A>C (p.Asn345Thr)
c.25A>C
c.1093A>C
c.2225A>C (p.Asn742Thr)
c.3353A>C (p.Asn1118Thr)
c.268A>C
c.3533A>C (p.Asn1178Thr)
c.3200A>C (p.Asn1067Thr)
7g.117614688A>GCA327189CFTRc.3443A>G (p.Asn1148Ser)
c.*3157A>G (n.*3157A>G)
c.3260A>G (p.Asn1087Ser)
c.*1818A>G (n.*1818A>G)
c.3437A>G (p.Asn1146Ser)
c.*3267A>G (n.*3267A>G)
c.3017A>G (p.Asn1006Ser)
c.191A>G (p.Asn64Ser)
c.1034A>G (p.Asn345Ser)
c.25A>G
c.1093A>G
c.2225A>G (p.Asn742Ser)
c.3353A>G (p.Asn1118Ser)
c.268A>G
c.3533A>G (p.Asn1178Ser)
c.3200A>G (p.Asn1067Ser)
 dbSNP
7g.117614688A>TCA368993641CFTRc.3443A>T (p.Asn1148Ile)
c.*3157A>T (n.*3157A>T)
c.3260A>T (p.Asn1087Ile)
c.*1818A>T (n.*1818A>T)
c.3437A>T (p.Asn1146Ile)
c.*3267A>T (n.*3267A>T)
c.3017A>T (p.Asn1006Ile)
c.191A>T (p.Asn64Ile)
c.1034A>T (p.Asn345Ile)
c.25A>T
c.1093A>T
c.2225A>T (p.Asn742Ile)
c.3353A>T (p.Asn1118Ile)
c.268A>T
c.3533A>T (p.Asn1178Ile)
c.3200A>T (p.Asn1067Ile)
7g.117614689delCA2695199621CFTRc.3444del (p.Ser1149ProfsTer3)
c.*3158del (n.*3158del)
c.3261del (p.Ser1088ProfsTer3)
c.*1819del (n.*1819del)
c.3438del (p.Ser1147ProfsTer3)
c.*3268del (n.*3268del)
c.3018del (p.Ser1007ProfsTer3)
c.192del (p.Ser65ProfsTer3)
c.1035del (p.Ser346ProfsTer3)
c.26del
c.1094del
c.2226del (p.Ser743ProfsTer3)
c.3354del (p.Ser1119ProfsTer3)
c.269del
c.3534del (p.Ser1179ProfsTer3)
c.3201del (p.Ser1068ProfsTer3)
 ClinVar
7g.117614689C>ACA327191CFTRc.3444C>A (p.Asn1148Lys)
c.*3158C>A (n.*3158C>A)
c.3261C>A (p.Asn1087Lys)
c.*1819C>A (n.*1819C>A)
c.3438C>A (p.Asn1146Lys)
c.*3268C>A (n.*3268C>A)
c.3018C>A (p.Asn1006Lys)
c.192C>A (p.Asn64Lys)
c.1035C>A (p.Asn345Lys)
c.26C>A
c.1094C>A
c.2226C>A (p.Asn742Lys)
c.3354C>A (p.Asn1118Lys)
c.269C>A
c.3534C>A (p.Asn1178Lys)
c.3201C>A (p.Asn1067Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614689C=CA1737392226CFTRc.3444C= (p.Asn1148=)
c.*3158C= (n.*3158C=)
c.3261C= (p.Asn1087=)
c.*1819C= (n.*1819C=)
c.3438C= (p.Asn1146=)
c.*3268C= (n.*3268C=)
c.3018C= (p.Asn1006=)
c.192C= (p.Asn64=)
c.1035C= (p.Asn345=)
c.26C=
c.1094C=
c.2226C= (p.Asn742=)
c.3354C= (p.Asn1118=)
c.269C=
c.3534C= (p.Asn1178=)
c.3201C= (p.Asn1067=)
7g.117614689C>GCA368993643CFTRc.3444C>G (p.Asn1148Lys)
c.*3158C>G (n.*3158C>G)
c.3261C>G (p.Asn1087Lys)
c.*1819C>G (n.*1819C>G)
c.3438C>G (p.Asn1146Lys)
c.*3268C>G (n.*3268C>G)
c.3018C>G (p.Asn1006Lys)
c.192C>G (p.Asn64Lys)
c.1035C>G (p.Asn345Lys)
c.26C>G
c.1094C>G
c.2226C>G (p.Asn742Lys)
c.3354C>G (p.Asn1118Lys)
c.269C>G
c.3534C>G (p.Asn1178Lys)
c.3201C>G (p.Asn1067Lys)
7g.117614689C>TCA457230199CFTRc.3444C>T (p.Asn1148=)
c.*3158C>T (n.*3158C>T)
c.3261C>T (p.Asn1087=)
c.*1819C>T (n.*1819C>T)
c.3438C>T (p.Asn1146=)
c.*3268C>T (n.*3268C>T)
c.3018C>T (p.Asn1006=)
c.192C>T (p.Asn64=)
c.1035C>T (p.Asn345=)
c.26C>T
c.1094C>T
c.2226C>T (p.Asn742=)
c.3354C>T (p.Asn1118=)
c.269C>T
c.3534C>T (p.Asn1178=)
c.3201C>T (p.Asn1067=)
7g.117614689_117614690delinsCTCA1737392228CFTRc.3444_3445delinsCT (p.Asn1148=)
c.*3158_*3159delinsCT (n.*3158_*3159delinsCT)
c.3261_3262delinsCT (p.Asn1087=)
c.*1819_*1820delinsCT (n.*1819_*1820delinsCT)
c.3438_3439delinsCT (p.Asn1146=)
c.*3268_*3269delinsCT (n.*3268_*3269delinsCT)
c.3018_3019delinsCT (p.Asn1006=)
c.192_193delinsCT (p.Asn64=)
c.1035_1036delinsCT (p.Asn345=)
c.26_27delinsCT
c.1094_1095delinsCT
c.2226_2227delinsCT (p.Asn742=)
c.3354_3355delinsCT (p.Asn1118=)
c.269_270delinsCT
c.3534_3535delinsCT (p.Asn1178=)
c.3201_3202delinsCT (p.Asn1067=)
7g.117614690delCA327193CFTRc.3445del (p.Ser1149ProfsTer3)
c.*3159del (n.*3159del)
c.3262del (p.Ser1088ProfsTer3)
c.*1820del (n.*1820del)
c.3439del (p.Ser1147ProfsTer3)
c.*3269del (n.*3269del)
c.3019del (p.Ser1007ProfsTer3)
c.193del (p.Ser65ProfsTer3)
c.1036del (p.Ser346ProfsTer3)
c.27del
c.1095del
c.2227del (p.Ser743ProfsTer3)
c.3355del (p.Ser1119ProfsTer3)
c.270del
c.3535del (p.Ser1179ProfsTer3)
c.3202del (p.Ser1068ProfsTer3)
 dbSNP
7g.117614690T>ACA368993647CFTRc.3445T>A (p.Ser1149Thr)
c.*3159T>A (n.*3159T>A)
c.3262T>A (p.Ser1088Thr)
c.*1820T>A (n.*1820T>A)
c.3439T>A (p.Ser1147Thr)
c.*3269T>A (n.*3269T>A)
c.3019T>A (p.Ser1007Thr)
c.193T>A (p.Ser65Thr)
c.1036T>A (p.Ser346Thr)
c.27T>A
c.1095T>A
c.2227T>A (p.Ser743Thr)
c.3355T>A (p.Ser1119Thr)
c.270T>A
c.3535T>A (p.Ser1179Thr)
c.3202T>A (p.Ser1068Thr)
7g.117614690T>CCA4451461CFTRc.3445T>C (p.Ser1149Pro)
c.*3159T>C (n.*3159T>C)
c.3262T>C (p.Ser1088Pro)
c.*1820T>C (n.*1820T>C)
c.3439T>C (p.Ser1147Pro)
c.*3269T>C (n.*3269T>C)
c.3019T>C (p.Ser1007Pro)
c.193T>C (p.Ser65Pro)
c.1036T>C (p.Ser346Pro)
c.27T>C
c.1095T>C
c.2227T>C (p.Ser743Pro)
c.3355T>C (p.Ser1119Pro)
c.270T>C
c.3535T>C (p.Ser1179Pro)
c.3202T>C (p.Ser1068Pro)
 dbSNP ExAC gnomAD v2
7g.117614690T>GCA368993650CFTRc.3445T>G (p.Ser1149Ala)
c.*3159T>G (n.*3159T>G)
c.3262T>G (p.Ser1088Ala)
c.*1820T>G (n.*1820T>G)
c.3439T>G (p.Ser1147Ala)
c.*3269T>G (n.*3269T>G)
c.3019T>G (p.Ser1007Ala)
c.193T>G (p.Ser65Ala)
c.1036T>G (p.Ser346Ala)
c.27T>G
c.1095T>G
c.2227T>G (p.Ser743Ala)
c.3355T>G (p.Ser1119Ala)
c.270T>G
c.3535T>G (p.Ser1179Ala)
c.3202T>G (p.Ser1068Ala)
7g.117614690T=CA1737392234CFTRc.3445T= (p.Ser1149=)
c.*3159T= (n.*3159T=)
c.3262T= (p.Ser1088=)
c.*1820T= (n.*1820T=)
c.3439T= (p.Ser1147=)
c.*3269T= (n.*3269T=)
c.3019T= (p.Ser1007=)
c.193T= (p.Ser65=)
c.1036T= (p.Ser346=)
c.27T=
c.1095T=
c.2227T= (p.Ser743=)
c.3355T= (p.Ser1119=)
c.270T=
c.3535T= (p.Ser1179=)
c.3202T= (p.Ser1068=)
7g.117614691C>ACA368993654CFTRc.3446C>A (p.Ser1149Tyr)
c.*3160C>A (n.*3160C>A)
c.3263C>A (p.Ser1088Tyr)
c.*1821C>A (n.*1821C>A)
c.3440C>A (p.Ser1147Tyr)
c.*3270C>A (n.*3270C>A)
c.3020C>A (p.Ser1007Tyr)
c.194C>A (p.Ser65Tyr)
c.1037C>A (p.Ser346Tyr)
c.28C>A
c.1096C>A
c.2228C>A (p.Ser743Tyr)
c.3356C>A (p.Ser1119Tyr)
c.271C>A
c.3536C>A (p.Ser1179Tyr)
c.3203C>A (p.Ser1068Tyr)
7g.117614691C=CA1737392237CFTRc.3446C= (p.Ser1149=)
c.*3160C= (n.*3160C=)
c.3263C= (p.Ser1088=)
c.*1821C= (n.*1821C=)
c.3440C= (p.Ser1147=)
c.*3270C= (n.*3270C=)
c.3020C= (p.Ser1007=)
c.194C= (p.Ser65=)
c.1037C= (p.Ser346=)
c.28C=
c.1096C=
c.2228C= (p.Ser743=)
c.3356C= (p.Ser1119=)
c.271C=
c.3536C= (p.Ser1179=)
c.3203C= (p.Ser1068=)
7g.117614691C>GCA368993655CFTRc.3446C>G (p.Ser1149Cys)
c.*3160C>G (n.*3160C>G)
c.3263C>G (p.Ser1088Cys)
c.*1821C>G (n.*1821C>G)
c.3440C>G (p.Ser1147Cys)
c.*3270C>G (n.*3270C>G)
c.3020C>G (p.Ser1007Cys)
c.194C>G (p.Ser65Cys)
c.1037C>G (p.Ser346Cys)
c.28C>G
c.1096C>G
c.2228C>G (p.Ser743Cys)
c.3356C>G (p.Ser1119Cys)
c.271C>G
c.3536C>G (p.Ser1179Cys)
c.3203C>G (p.Ser1068Cys)
 dbSNP
7g.117614691C>TCA368993657CFTRc.3446C>T (p.Ser1149Phe)
c.*3160C>T (n.*3160C>T)
c.3263C>T (p.Ser1088Phe)
c.*1821C>T (n.*1821C>T)
c.3440C>T (p.Ser1147Phe)
c.*3270C>T (n.*3270C>T)
c.3020C>T (p.Ser1007Phe)
c.194C>T (p.Ser65Phe)
c.1037C>T (p.Ser346Phe)
c.28C>T
c.1096C>T
c.2228C>T (p.Ser743Phe)
c.3356C>T (p.Ser1119Phe)
c.271C>T
c.3536C>T (p.Ser1179Phe)
c.3203C>T (p.Ser1068Phe)
7g.117614692C>ACA457230201CFTRc.3447C>A (p.Ser1149=)
c.*3161C>A (n.*3161C>A)
c.3264C>A (p.Ser1088=)
c.*1822C>A (n.*1822C>A)
c.3441C>A (p.Ser1147=)
c.*3271C>A (n.*3271C>A)
c.3021C>A (p.Ser1007=)
c.195C>A (p.Ser65=)
c.1038C>A (p.Ser346=)
c.29C>A
c.1097C>A
c.2229C>A (p.Ser743=)
c.3357C>A (p.Ser1119=)
c.272C>A
c.3537C>A (p.Ser1179=)
c.3204C>A (p.Ser1068=)
 ClinVar COSMIC
7g.117614692C>GCA457230202CFTRc.3447C>G (p.Ser1149=)
c.*3161C>G (n.*3161C>G)
c.3264C>G (p.Ser1088=)
c.*1822C>G (n.*1822C>G)
c.3441C>G (p.Ser1147=)
c.*3271C>G (n.*3271C>G)
c.3021C>G (p.Ser1007=)
c.195C>G (p.Ser65=)
c.1038C>G (p.Ser346=)
c.29C>G
c.1097C>G
c.2229C>G (p.Ser743=)
c.3357C>G (p.Ser1119=)
c.272C>G
c.3537C>G (p.Ser1179=)
c.3204C>G (p.Ser1068=)
7g.117614692C>TCA457230203CFTRc.3447C>T (p.Ser1149=)
c.*3161C>T (n.*3161C>T)
c.3264C>T (p.Ser1088=)
c.*1822C>T (n.*1822C>T)
c.3441C>T (p.Ser1147=)
c.*3271C>T (n.*3271C>T)
c.3021C>T (p.Ser1007=)
c.195C>T (p.Ser65=)
c.1038C>T (p.Ser346=)
c.29C>T
c.1097C>T
c.2229C>T (p.Ser743=)
c.3357C>T (p.Ser1119=)
c.272C>T
c.3537C>T (p.Ser1179=)
c.3204C>T (p.Ser1068=)
7g.117614693A>CCA368993664CFTRc.3448A>C (p.Ser1150Arg)
c.*3162A>C (n.*3162A>C)
c.3265A>C (p.Ser1089Arg)
c.*1823A>C (n.*1823A>C)
c.3442A>C (p.Ser1148Arg)
c.*3272A>C (n.*3272A>C)
c.3022A>C (p.Ser1008Arg)
c.196A>C (p.Ser66Arg)
c.1039A>C (p.Ser347Arg)
c.30A>C
c.1098A>C
c.2230A>C (p.Ser744Arg)
c.3358A>C (p.Ser1120Arg)
c.273A>C
c.3538A>C (p.Ser1180Arg)
c.3205A>C (p.Ser1069Arg)
7g.117614693A>GCA368993660CFTRc.3448A>G (p.Ser1150Gly)
c.*3162A>G (n.*3162A>G)
c.3265A>G (p.Ser1089Gly)
c.*1823A>G (n.*1823A>G)
c.3442A>G (p.Ser1148Gly)
c.*3272A>G (n.*3272A>G)
c.3022A>G (p.Ser1008Gly)
c.196A>G (p.Ser66Gly)
c.1039A>G (p.Ser347Gly)
c.30A>G
c.1098A>G
c.2230A>G (p.Ser744Gly)
c.3358A>G (p.Ser1120Gly)
c.273A>G
c.3538A>G (p.Ser1180Gly)
c.3205A>G (p.Ser1069Gly)
7g.117614693A>TCA368993662CFTRc.3448A>T (p.Ser1150Cys)
c.*3162A>T (n.*3162A>T)
c.3265A>T (p.Ser1089Cys)
c.*1823A>T (n.*1823A>T)
c.3442A>T (p.Ser1148Cys)
c.*3272A>T (n.*3272A>T)
c.3022A>T (p.Ser1008Cys)
c.196A>T (p.Ser66Cys)
c.1039A>T (p.Ser347Cys)
c.30A>T
c.1098A>T
c.2230A>T (p.Ser744Cys)
c.3358A>T (p.Ser1120Cys)
c.273A>T
c.3538A>T (p.Ser1180Cys)
c.3205A>T (p.Ser1069Cys)
7g.117614694G>ACA368993667CFTRc.3449G>A (p.Ser1150Asn)
c.*3163G>A (n.*3163G>A)
c.3266G>A (p.Ser1089Asn)
c.*1824G>A (n.*1824G>A)
c.3443G>A (p.Ser1148Asn)
c.*3273G>A (n.*3273G>A)
c.3023G>A (p.Ser1008Asn)
c.197G>A (p.Ser66Asn)
c.1040G>A (p.Ser347Asn)
c.31G>A
c.1099G>A
c.2231G>A (p.Ser744Asn)
c.3359G>A (p.Ser1120Asn)
c.274G>A
c.3539G>A (p.Ser1180Asn)
c.3206G>A (p.Ser1069Asn)
 gnomAD v4
7g.117614694G>CCA368993669CFTRc.3449G>C (p.Ser1150Thr)
c.*3163G>C (n.*3163G>C)
c.3266G>C (p.Ser1089Thr)
c.*1824G>C (n.*1824G>C)
c.3443G>C (p.Ser1148Thr)
c.*3273G>C (n.*3273G>C)
c.3023G>C (p.Ser1008Thr)
c.197G>C (p.Ser66Thr)
c.1040G>C (p.Ser347Thr)
c.31G>C
c.1099G>C
c.2231G>C (p.Ser744Thr)
c.3359G>C (p.Ser1120Thr)
c.274G>C
c.3539G>C (p.Ser1180Thr)
c.3206G>C (p.Ser1069Thr)
 ClinVar dbSNP gnomAD v4
7g.117614694G=CA1737392240CFTRc.3449G= (p.Ser1150=)
c.*3163G= (n.*3163G=)
c.3266G= (p.Ser1089=)
c.*1824G= (n.*1824G=)
c.3443G= (p.Ser1148=)
c.*3273G= (n.*3273G=)
c.3023G= (p.Ser1008=)
c.197G= (p.Ser66=)
c.1040G= (p.Ser347=)
c.31G=
c.1099G=
c.2231G= (p.Ser744=)
c.3359G= (p.Ser1120=)
c.274G=
c.3539G= (p.Ser1180=)
c.3206G= (p.Ser1069=)
7g.117614694G>TCA368993671CFTRc.3449G>T (p.Ser1150Ile)
c.*3163G>T (n.*3163G>T)
c.3266G>T (p.Ser1089Ile)
c.*1824G>T (n.*1824G>T)
c.3443G>T (p.Ser1148Ile)
c.*3273G>T (n.*3273G>T)
c.3023G>T (p.Ser1008Ile)
c.197G>T (p.Ser66Ile)
c.1040G>T (p.Ser347Ile)
c.31G>T
c.1099G>T
c.2231G>T (p.Ser744Ile)
c.3359G>T (p.Ser1120Ile)
c.274G>T
c.3539G>T (p.Ser1180Ile)
c.3206G>T (p.Ser1069Ile)
7g.117614695C>ACA368993673CFTRc.3450C>A (p.Ser1150Arg)
c.*3164C>A (n.*3164C>A)
c.3267C>A (p.Ser1089Arg)
c.*1825C>A (n.*1825C>A)
c.3444C>A (p.Ser1148Arg)
c.*3274C>A (n.*3274C>A)
c.3024C>A (p.Ser1008Arg)
c.198C>A (p.Ser66Arg)
c.1041C>A (p.Ser347Arg)
c.32C>A
c.1100C>A
c.2232C>A (p.Ser744Arg)
c.3360C>A (p.Ser1120Arg)
c.275C>A
c.3540C>A (p.Ser1180Arg)
c.3207C>A (p.Ser1069Arg)
 dbSNP gnomAD v4
7g.117614695C=CA1737392243CFTRc.3450C= (p.Ser1150=)
c.*3164C= (n.*3164C=)
c.3267C= (p.Ser1089=)
c.*1825C= (n.*1825C=)
c.3444C= (p.Ser1148=)
c.*3274C= (n.*3274C=)
c.3024C= (p.Ser1008=)
c.198C= (p.Ser66=)
c.1041C= (p.Ser347=)
c.32C=
c.1100C=
c.2232C= (p.Ser744=)
c.3360C= (p.Ser1120=)
c.275C=
c.3540C= (p.Ser1180=)
c.3207C= (p.Ser1069=)
7g.117614695C>GCA368993675CFTRc.3450C>G (p.Ser1150Arg)
c.*3164C>G (n.*3164C>G)
c.3267C>G (p.Ser1089Arg)
c.*1825C>G (n.*1825C>G)
c.3444C>G (p.Ser1148Arg)
c.*3274C>G (n.*3274C>G)
c.3024C>G (p.Ser1008Arg)
c.198C>G (p.Ser66Arg)
c.1041C>G (p.Ser347Arg)
c.32C>G
c.1100C>G
c.2232C>G (p.Ser744Arg)
c.3360C>G (p.Ser1120Arg)
c.275C>G
c.3540C>G (p.Ser1180Arg)
c.3207C>G (p.Ser1069Arg)
7g.117614695C>TCA457230204CFTRc.3450C>T (p.Ser1150=)
c.*3164C>T (n.*3164C>T)
c.3267C>T (p.Ser1089=)
c.*1825C>T (n.*1825C>T)
c.3444C>T (p.Ser1148=)
c.*3274C>T (n.*3274C>T)
c.3024C>T (p.Ser1008=)
c.198C>T (p.Ser66=)
c.1041C>T (p.Ser347=)
c.32C>T
c.1100C>T
c.2232C>T (p.Ser744=)
c.3360C>T (p.Ser1120=)
c.275C>T
c.3540C>T (p.Ser1180=)
c.3207C>T (p.Ser1069=)
 gnomAD v4
7g.117614696A=CA1737392244CFTRc.3451A= (p.Ile1151=)
c.*3165A= (n.*3165A=)
c.3268A= (p.Ile1090=)
c.*1826A= (n.*1826A=)
c.3445A= (p.Ile1149=)
c.*3275A= (n.*3275A=)
c.3025A= (p.Ile1009=)
c.199A= (p.Ile67=)
c.1042A= (p.Ile348=)
c.33A=
c.1101A=
c.2233A= (p.Ile745=)
c.3361A= (p.Ile1121=)
c.276A=
c.3541A= (p.Ile1181=)
c.3208A= (p.Ile1070=)
7g.117614696A>CCA368993677CFTRc.3451A>C (p.Ile1151Leu)
c.*3165A>C (n.*3165A>C)
c.3268A>C (p.Ile1090Leu)
c.*1826A>C (n.*1826A>C)
c.3445A>C (p.Ile1149Leu)
c.*3275A>C (n.*3275A>C)
c.3025A>C (p.Ile1009Leu)
c.199A>C (p.Ile67Leu)
c.1042A>C (p.Ile348Leu)
c.33A>C
c.1101A>C
c.2233A>C (p.Ile745Leu)
c.3361A>C (p.Ile1121Leu)
c.276A>C
c.3541A>C (p.Ile1181Leu)
c.3208A>C (p.Ile1070Leu)
7g.117614696A>GCA368993682CFTRc.3451A>G (p.Ile1151Val)
c.*3165A>G (n.*3165A>G)
c.3268A>G (p.Ile1090Val)
c.*1826A>G (n.*1826A>G)
c.3445A>G (p.Ile1149Val)
c.*3275A>G (n.*3275A>G)
c.3025A>G (p.Ile1009Val)
c.199A>G (p.Ile67Val)
c.1042A>G (p.Ile348Val)
c.33A>G
c.1101A>G
c.2233A>G (p.Ile745Val)
c.3361A>G (p.Ile1121Val)
c.276A>G
c.3541A>G (p.Ile1181Val)
c.3208A>G (p.Ile1070Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117614696A>TCA368993680CFTRc.3451A>T (p.Ile1151Leu)
c.*3165A>T (n.*3165A>T)
c.3268A>T (p.Ile1090Leu)
c.*1826A>T (n.*1826A>T)
c.3445A>T (p.Ile1149Leu)
c.*3275A>T (n.*3275A>T)
c.3025A>T (p.Ile1009Leu)
c.199A>T (p.Ile67Leu)
c.1042A>T (p.Ile348Leu)
c.33A>T
c.1101A>T
c.2233A>T (p.Ile745Leu)
c.3361A>T (p.Ile1121Leu)
c.276A>T
c.3541A>T (p.Ile1181Leu)
c.3208A>T (p.Ile1070Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.117614697T>ACA368993684CFTRc.3452T>A (p.Ile1151Lys)
c.*3166T>A (n.*3166T>A)
c.3269T>A (p.Ile1090Lys)
c.*1827T>A (n.*1827T>A)
c.3446T>A (p.Ile1149Lys)
c.*3276T>A (n.*3276T>A)
c.3026T>A (p.Ile1009Lys)
c.200T>A (p.Ile67Lys)
c.1043T>A (p.Ile348Lys)
c.34T>A
c.1102T>A
c.2234T>A (p.Ile745Lys)
c.3362T>A (p.Ile1121Lys)
c.277T>A
c.3542T>A (p.Ile1181Lys)
c.3209T>A (p.Ile1070Lys)
 ClinVar dbSNP
7g.117614697T>CCA368993687CFTRc.3452T>C (p.Ile1151Thr)
c.*3166T>C (n.*3166T>C)
c.3269T>C (p.Ile1090Thr)
c.*1827T>C (n.*1827T>C)
c.3446T>C (p.Ile1149Thr)
c.*3276T>C (n.*3276T>C)
c.3026T>C (p.Ile1009Thr)
c.200T>C (p.Ile67Thr)
c.1043T>C (p.Ile348Thr)
c.34T>C
c.1102T>C
c.2234T>C (p.Ile745Thr)
c.3362T>C (p.Ile1121Thr)
c.277T>C
c.3542T>C (p.Ile1181Thr)
c.3209T>C (p.Ile1070Thr)
7g.117614697T>GCA368993689CFTRc.3452T>G (p.Ile1151Arg)
c.*3166T>G (n.*3166T>G)
c.3269T>G (p.Ile1090Arg)
c.*1827T>G (n.*1827T>G)
c.3446T>G (p.Ile1149Arg)
c.*3276T>G (n.*3276T>G)
c.3026T>G (p.Ile1009Arg)
c.200T>G (p.Ile67Arg)
c.1043T>G (p.Ile348Arg)
c.34T>G
c.1102T>G
c.2234T>G (p.Ile745Arg)
c.3362T>G (p.Ile1121Arg)
c.277T>G
c.3542T>G (p.Ile1181Arg)
c.3209T>G (p.Ile1070Arg)
7g.117614697T=CA1737392247CFTRc.3452T= (p.Ile1151=)
c.*3166T= (n.*3166T=)
c.3269T= (p.Ile1090=)
c.*1827T= (n.*1827T=)
c.3446T= (p.Ile1149=)
c.*3276T= (n.*3276T=)
c.3026T= (p.Ile1009=)
c.200T= (p.Ile67=)
c.1043T= (p.Ile348=)
c.34T=
c.1102T=
c.2234T= (p.Ile745=)
c.3362T= (p.Ile1121=)
c.277T=
c.3542T= (p.Ile1181=)
c.3209T= (p.Ile1070=)
7g.117614698A>CCA457230206CFTRc.3453A>C (p.Ile1151=)
c.*3167A>C (n.*3167A>C)
c.3270A>C (p.Ile1090=)
c.*1828A>C (n.*1828A>C)
c.3447A>C (p.Ile1149=)
c.*3277A>C (n.*3277A>C)
c.3027A>C (p.Ile1009=)
c.201A>C (p.Ile67=)
c.1044A>C (p.Ile348=)
c.35A>C
c.1103A>C
c.2235A>C (p.Ile745=)
c.3363A>C (p.Ile1121=)
c.278A>C
c.3543A>C (p.Ile1181=)
c.3210A>C (p.Ile1070=)
7g.117614698A>GCA368993691CFTRc.3453A>G (p.Ile1151Met)
c.*3167A>G (n.*3167A>G)
c.3270A>G (p.Ile1090Met)
c.*1828A>G (n.*1828A>G)
c.3447A>G (p.Ile1149Met)
c.*3277A>G (n.*3277A>G)
c.3027A>G (p.Ile1009Met)
c.201A>G (p.Ile67Met)
c.1044A>G (p.Ile348Met)
c.35A>G
c.1103A>G
c.2235A>G (p.Ile745Met)
c.3363A>G (p.Ile1121Met)
c.278A>G
c.3543A>G (p.Ile1181Met)
c.3210A>G (p.Ile1070Met)
7g.117614698A>TCA457230205CFTRc.3453A>T (p.Ile1151=)
c.*3167A>T (n.*3167A>T)
c.3270A>T (p.Ile1090=)
c.*1828A>T (n.*1828A>T)
c.3447A>T (p.Ile1149=)
c.*3277A>T (n.*3277A>T)
c.3027A>T (p.Ile1009=)
c.201A>T (p.Ile67=)
c.1044A>T (p.Ile348=)
c.35A>T
c.1103A>T
c.2235A>T (p.Ile745=)
c.3363A>T (p.Ile1121=)
c.278A>T
c.3543A>T (p.Ile1181=)
c.3210A>T (p.Ile1070=)
7g.117614699G>ACA368993694CFTRc.3454G>A (p.Asp1152Asn)
c.*3168G>A (n.*3168G>A)
c.3271G>A (p.Asp1091Asn)
c.*1829G>A (n.*1829G>A)
c.3448G>A (p.Asp1150Asn)
c.*3278G>A (n.*3278G>A)
c.3028G>A (p.Asp1010Asn)
c.202G>A (p.Asp68Asn)
c.1045G>A (p.Asp349Asn)
c.36G>A
c.1104G>A
c.2236G>A (p.Asp746Asn)
c.3364G>A (p.Asp1122Asn)
c.279G>A
c.3544G>A (p.Asp1182Asn)
c.3211G>A (p.Asp1071Asn)
7g.117614699G>CCA201825CFTRc.3454G>C (p.Asp1152His)
c.*3168G>C (n.*3168G>C)
c.3271G>C (p.Asp1091His)
c.*1829G>C (n.*1829G>C)
c.3448G>C (p.Asp1150His)
c.*3278G>C (n.*3278G>C)
c.3028G>C (p.Asp1010His)
c.202G>C (p.Asp68His)
c.1045G>C (p.Asp349His)
c.36G>C
c.1104G>C
c.2236G>C (p.Asp746His)
c.3364G>C (p.Asp1122His)
c.279G>C
c.3544G>C (p.Asp1182His)
c.3211G>C (p.Asp1071His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117614699G=CA1737392248CFTRc.3454G= (p.Asp1152=)
c.*3168G= (n.*3168G=)
c.3271G= (p.Asp1091=)
c.*1829G= (n.*1829G=)
c.3448G= (p.Asp1150=)
c.*3278G= (n.*3278G=)
c.3028G= (p.Asp1010=)
c.202G= (p.Asp68=)
c.1045G= (p.Asp349=)
c.36G=
c.1104G=
c.2236G= (p.Asp746=)
c.3364G= (p.Asp1122=)
c.279G=
c.3544G= (p.Asp1182=)
c.3211G= (p.Asp1071=)
7g.117614699G>TCA368993696CFTRc.3454G>T (p.Asp1152Tyr)
c.*3168G>T (n.*3168G>T)
c.3271G>T (p.Asp1091Tyr)
c.*1829G>T (n.*1829G>T)
c.3448G>T (p.Asp1150Tyr)
c.*3278G>T (n.*3278G>T)
c.3028G>T (p.Asp1010Tyr)
c.202G>T (p.Asp68Tyr)
c.1045G>T (p.Asp349Tyr)
c.36G>T
c.1104G>T
c.2236G>T (p.Asp746Tyr)
c.3364G>T (p.Asp1122Tyr)
c.279G>T
c.3544G>T (p.Asp1182Tyr)
c.3211G>T (p.Asp1071Tyr)
7g.117614700A>CCA368993698CFTRc.3455A>C (p.Asp1152Ala)
c.*3169A>C (n.*3169A>C)
c.3272A>C (p.Asp1091Ala)
c.*1830A>C (n.*1830A>C)
c.3449A>C (p.Asp1150Ala)
c.*3279A>C (n.*3279A>C)
c.3029A>C (p.Asp1010Ala)
c.203A>C (p.Asp68Ala)
c.1046A>C (p.Asp349Ala)
c.37A>C
c.1105A>C
c.2237A>C (p.Asp746Ala)
c.3365A>C (p.Asp1122Ala)
c.280A>C
c.3545A>C (p.Asp1182Ala)
c.3212A>C (p.Asp1071Ala)
 COSMIC
7g.117614700A>GCA368993700CFTRc.3455A>G (p.Asp1152Gly)
c.*3169A>G (n.*3169A>G)
c.3272A>G (p.Asp1091Gly)
c.*1830A>G (n.*1830A>G)
c.3449A>G (p.Asp1150Gly)
c.*3279A>G (n.*3279A>G)
c.3029A>G (p.Asp1010Gly)
c.203A>G (p.Asp68Gly)
c.1046A>G (p.Asp349Gly)
c.37A>G
c.1105A>G
c.2237A>G (p.Asp746Gly)
c.3365A>G (p.Asp1122Gly)
c.280A>G
c.3545A>G (p.Asp1182Gly)
c.3212A>G (p.Asp1071Gly)
 gnomAD v4 COSMIC
7g.117614700A>TCA368993702CFTRc.3455A>T (p.Asp1152Val)
c.*3169A>T (n.*3169A>T)
c.3272A>T (p.Asp1091Val)
c.*1830A>T (n.*1830A>T)
c.3449A>T (p.Asp1150Val)
c.*3279A>T (n.*3279A>T)
c.3029A>T (p.Asp1010Val)
c.203A>T (p.Asp68Val)
c.1046A>T (p.Asp349Val)
c.37A>T
c.1105A>T
c.2237A>T (p.Asp746Val)
c.3365A>T (p.Asp1122Val)
c.280A>T
c.3545A>T (p.Asp1182Val)
c.3212A>T (p.Asp1071Val)
7g.117614701T>ACA368993704CFTRc.3456T>A (p.Asp1152Glu)
c.*3170T>A (n.*3170T>A)
c.3273T>A (p.Asp1091Glu)
c.*1831T>A (n.*1831T>A)
c.3450T>A (p.Asp1150Glu)
c.*3280T>A (n.*3280T>A)
c.3030T>A (p.Asp1010Glu)
c.204T>A (p.Asp68Glu)
c.1047T>A (p.Asp349Glu)
c.38T>A
c.1106T>A
c.2238T>A (p.Asp746Glu)
c.3366T>A (p.Asp1122Glu)
c.281T>A
c.3546T>A (p.Asp1182Glu)
c.3213T>A (p.Asp1071Glu)
 dbSNP gnomAD v3 gnomAD v4
7g.117614701T>CCA457230207CFTRc.3456T>C (p.Asp1152=)
c.*3170T>C (n.*3170T>C)
c.3273T>C (p.Asp1091=)
c.*1831T>C (n.*1831T>C)
c.3450T>C (p.Asp1150=)
c.*3280T>C (n.*3280T>C)
c.3030T>C (p.Asp1010=)
c.204T>C (p.Asp68=)
c.1047T>C (p.Asp349=)
c.38T>C
c.1106T>C
c.2238T>C (p.Asp746=)
c.3366T>C (p.Asp1122=)
c.281T>C
c.3546T>C (p.Asp1182=)
c.3213T>C (p.Asp1071=)
 gnomAD v4
7g.117614701T>GCA368993705CFTRc.3456T>G (p.Asp1152Glu)
c.*3170T>G (n.*3170T>G)
c.3273T>G (p.Asp1091Glu)
c.*1831T>G (n.*1831T>G)
c.3450T>G (p.Asp1150Glu)
c.*3280T>G (n.*3280T>G)
c.3030T>G (p.Asp1010Glu)
c.204T>G (p.Asp68Glu)
c.1047T>G (p.Asp349Glu)
c.38T>G
c.1106T>G
c.2238T>G (p.Asp746Glu)
c.3366T>G (p.Asp1122Glu)
c.281T>G
c.3546T>G (p.Asp1182Glu)
c.3213T>G (p.Asp1071Glu)
7g.117614701T=CA1737392250CFTRc.3456T= (p.Asp1152=)
c.*3170T= (n.*3170T=)
c.3273T= (p.Asp1091=)
c.*1831T= (n.*1831T=)
c.3450T= (p.Asp1150=)
c.*3280T= (n.*3280T=)
c.3030T= (p.Asp1010=)
c.204T= (p.Asp68=)
c.1047T= (p.Asp349=)
c.38T=
c.1106T=
c.2238T= (p.Asp746=)
c.3366T= (p.Asp1122=)
c.281T=
c.3546T= (p.Asp1182=)
c.3213T= (p.Asp1071=)
7g.117614702G>ACA164968930CFTRc.3457G>A (p.Val1153Met)
c.*3171G>A (n.*3171G>A)
c.3274G>A (p.Val1092Met)
c.*1832G>A (n.*1832G>A)
c.3451G>A (p.Val1151Met)
c.*3281G>A (n.*3281G>A)
c.3031G>A (p.Val1011Met)
c.205G>A (p.Val69Met)
c.1048G>A (p.Val350Met)
c.39G>A
c.1107G>A
c.2239G>A (p.Val747Met)
c.3367G>A (p.Val1123Met)
c.282G>A
c.3547G>A (p.Val1183Met)
c.3214G>A (p.Val1072Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117614702G>CCA368993711CFTRc.3457G>C (p.Val1153Leu)
c.*3171G>C (n.*3171G>C)
c.3274G>C (p.Val1092Leu)
c.*1832G>C (n.*1832G>C)
c.3451G>C (p.Val1151Leu)
c.*3281G>C (n.*3281G>C)
c.3031G>C (p.Val1011Leu)
c.205G>C (p.Val69Leu)
c.1048G>C (p.Val350Leu)
c.39G>C
c.1107G>C
c.2239G>C (p.Val747Leu)
c.3367G>C (p.Val1123Leu)
c.282G>C
c.3547G>C (p.Val1183Leu)
c.3214G>C (p.Val1072Leu)
 ClinVar gnomAD v4
7g.117614702G=CA1737392252CFTRc.3457G= (p.Val1153=)
c.*3171G= (n.*3171G=)
c.3274G= (p.Val1092=)
c.*1832G= (n.*1832G=)
c.3451G= (p.Val1151=)
c.*3281G= (n.*3281G=)
c.3031G= (p.Val1011=)
c.205G= (p.Val69=)
c.1048G= (p.Val350=)
c.39G=
c.1107G=
c.2239G= (p.Val747=)
c.3367G= (p.Val1123=)
c.282G=
c.3547G= (p.Val1183=)
c.3214G= (p.Val1072=)
7g.117614702G>TCA368993709CFTRc.3457G>T (p.Val1153Leu)
c.*3171G>T (n.*3171G>T)
c.3274G>T (p.Val1092Leu)
c.*1832G>T (n.*1832G>T)
c.3451G>T (p.Val1151Leu)
c.*3281G>T (n.*3281G>T)
c.3031G>T (p.Val1011Leu)
c.205G>T (p.Val69Leu)
c.1048G>T (p.Val350Leu)
c.39G>T
c.1107G>T
c.2239G>T (p.Val747Leu)
c.3367G>T (p.Val1123Leu)
c.282G>T
c.3547G>T (p.Val1183Leu)
c.3214G>T (p.Val1072Leu)
7g.117614703T>ACA327194CFTRc.3458T>A (p.Val1153Glu)
c.*3172T>A (n.*3172T>A)
c.3275T>A (p.Val1092Glu)
c.*1833T>A (n.*1833T>A)
c.3452T>A (p.Val1151Glu)
c.*3282T>A (n.*3282T>A)
c.3032T>A (p.Val1011Glu)
c.206T>A (p.Val69Glu)
c.1049T>A (p.Val350Glu)
c.40T>A
c.1108T>A
c.2240T>A (p.Val747Glu)
c.3368T>A (p.Val1123Glu)
c.283T>A
c.3548T>A (p.Val1183Glu)
c.3215T>A (p.Val1072Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614703T>CCA368993715CFTRc.3458T>C (p.Val1153Ala)
c.*3172T>C (n.*3172T>C)
c.3275T>C (p.Val1092Ala)
c.*1833T>C (n.*1833T>C)
c.3452T>C (p.Val1151Ala)
c.*3282T>C (n.*3282T>C)
c.3032T>C (p.Val1011Ala)
c.206T>C (p.Val69Ala)
c.1049T>C (p.Val350Ala)
c.40T>C
c.1108T>C
c.2240T>C (p.Val747Ala)
c.3368T>C (p.Val1123Ala)
c.283T>C
c.3548T>C (p.Val1183Ala)
c.3215T>C (p.Val1072Ala)
7g.117614703T>GCA368993716CFTRc.3458T>G (p.Val1153Gly)
c.*3172T>G (n.*3172T>G)
c.3275T>G (p.Val1092Gly)
c.*1833T>G (n.*1833T>G)
c.3452T>G (p.Val1151Gly)
c.*3282T>G (n.*3282T>G)
c.3032T>G (p.Val1011Gly)
c.206T>G (p.Val69Gly)
c.1049T>G (p.Val350Gly)
c.40T>G
c.1108T>G
c.2240T>G (p.Val747Gly)
c.3368T>G (p.Val1123Gly)
c.283T>G
c.3548T>G (p.Val1183Gly)
c.3215T>G (p.Val1072Gly)
7g.117614703T=CA1737392253CFTRc.3458T= (p.Val1153=)
c.*3172T= (n.*3172T=)
c.3275T= (p.Val1092=)
c.*1833T= (n.*1833T=)
c.3452T= (p.Val1151=)
c.*3282T= (n.*3282T=)
c.3032T= (p.Val1011=)
c.206T= (p.Val69=)
c.1049T= (p.Val350=)
c.40T=
c.1108T=
c.2240T= (p.Val747=)
c.3368T= (p.Val1123=)
c.283T=
c.3548T= (p.Val1183=)
c.3215T= (p.Val1072=)
7g.117614704G>ACA457230208CFTRc.3459G>A (p.Val1153=)
c.*3173G>A (n.*3173G>A)
c.3276G>A (p.Val1092=)
c.*1834G>A (n.*1834G>A)
c.3453G>A (p.Val1151=)
c.*3283G>A (n.*3283G>A)
c.3033G>A (p.Val1011=)
c.207G>A (p.Val69=)
c.1050G>A (p.Val350=)
c.41G>A
c.1109G>A
c.2241G>A (p.Val747=)
c.3369G>A (p.Val1123=)
c.284G>A
c.3549G>A (p.Val1183=)
c.3216G>A (p.Val1072=)
7g.117614704G>CCA457230210CFTRc.3459G>C (p.Val1153=)
c.*3173G>C (n.*3173G>C)
c.3276G>C (p.Val1092=)
c.*1834G>C (n.*1834G>C)
c.3453G>C (p.Val1151=)
c.*3283G>C (n.*3283G>C)
c.3033G>C (p.Val1011=)
c.207G>C (p.Val69=)
c.1050G>C (p.Val350=)
c.41G>C
c.1109G>C
c.2241G>C (p.Val747=)
c.3369G>C (p.Val1123=)
c.284G>C
c.3549G>C (p.Val1183=)
c.3216G>C (p.Val1072=)
7g.117614704G>TCA457230211CFTRc.3459G>T (p.Val1153=)
c.*3173G>T (n.*3173G>T)
c.3276G>T (p.Val1092=)
c.*1834G>T (n.*1834G>T)
c.3453G>T (p.Val1151=)
c.*3283G>T (n.*3283G>T)
c.3033G>T (p.Val1011=)
c.207G>T (p.Val69=)
c.1050G>T (p.Val350=)
c.41G>T
c.1109G>T
c.2241G>T (p.Val747=)
c.3369G>T (p.Val1123=)
c.284G>T
c.3549G>T (p.Val1183=)
c.3216G>T (p.Val1072=)
7g.117614705G>ACA368993720CFTRc.3460G>A (p.Asp1154Asn)
c.*3174G>A (n.*3174G>A)
c.3277G>A (p.Asp1093Asn)
c.*1835G>A (n.*1835G>A)
c.3454G>A (p.Asp1152Asn)
c.*3284G>A (n.*3284G>A)
c.3034G>A (p.Asp1012Asn)
c.208G>A (p.Asp70Asn)
c.1051G>A (p.Asp351Asn)
c.42G>A
c.1110G>A
c.2242G>A (p.Asp748Asn)
c.3370G>A (p.Asp1124Asn)
c.285G>A
c.3550G>A (p.Asp1184Asn)
c.3217G>A (p.Asp1073Asn)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117614705G>CCA368993721CFTRc.3460G>C (p.Asp1154His)
c.*3174G>C (n.*3174G>C)
c.3277G>C (p.Asp1093His)
c.*1835G>C (n.*1835G>C)
c.3454G>C (p.Asp1152His)
c.*3284G>C (n.*3284G>C)
c.3034G>C (p.Asp1012His)
c.208G>C (p.Asp70His)
c.1051G>C (p.Asp351His)
c.42G>C
c.1110G>C
c.2242G>C (p.Asp748His)
c.3370G>C (p.Asp1124His)
c.285G>C
c.3550G>C (p.Asp1184His)
c.3217G>C (p.Asp1073His)
7g.117614705G=CA1737392255CFTRc.3460G= (p.Asp1154=)
c.*3174G= (n.*3174G=)
c.3277G= (p.Asp1093=)
c.*1835G= (n.*1835G=)
c.3454G= (p.Asp1152=)
c.*3284G= (n.*3284G=)
c.3034G= (p.Asp1012=)
c.208G= (p.Asp70=)
c.1051G= (p.Asp351=)
c.42G=
c.1110G=
c.2242G= (p.Asp748=)
c.3370G= (p.Asp1124=)
c.285G=
c.3550G= (p.Asp1184=)
c.3217G= (p.Asp1073=)
7g.117614705G>TCA327196CFTRc.3460G>T (p.Asp1154Tyr)
c.*3174G>T (n.*3174G>T)
c.3277G>T (p.Asp1093Tyr)
c.*1835G>T (n.*1835G>T)
c.3454G>T (p.Asp1152Tyr)
c.*3284G>T (n.*3284G>T)
c.3034G>T (p.Asp1012Tyr)
c.208G>T (p.Asp70Tyr)
c.1051G>T (p.Asp351Tyr)
c.42G>T
c.1110G>T
c.2242G>T (p.Asp748Tyr)
c.3370G>T (p.Asp1124Tyr)
c.285G>T
c.3550G>T (p.Asp1184Tyr)
c.3217G>T (p.Asp1073Tyr)
 ClinVar dbSNP
7g.117614706A=CA1737392257CFTRc.3461A= (p.Asp1154=)
c.*3175A= (n.*3175A=)
c.3278A= (p.Asp1093=)
c.*1836A= (n.*1836A=)
c.3455A= (p.Asp1152=)
c.*3285A= (n.*3285A=)
c.3035A= (p.Asp1012=)
c.209A= (p.Asp70=)
c.1052A= (p.Asp351=)
c.43A=
c.1111A=
c.2243A= (p.Asp748=)
c.3371A= (p.Asp1124=)
c.286A=
c.3551A= (p.Asp1184=)
c.3218A= (p.Asp1073=)
7g.117614706A>CCA368993727CFTRc.3461A>C (p.Asp1154Ala)
c.*3175A>C (n.*3175A>C)
c.3278A>C (p.Asp1093Ala)
c.*1836A>C (n.*1836A>C)
c.3455A>C (p.Asp1152Ala)
c.*3285A>C (n.*3285A>C)
c.3035A>C (p.Asp1012Ala)
c.209A>C (p.Asp70Ala)
c.1052A>C (p.Asp351Ala)
c.43A>C
c.1111A>C
c.2243A>C (p.Asp748Ala)
c.3371A>C (p.Asp1124Ala)
c.286A>C
c.3551A>C (p.Asp1184Ala)
c.3218A>C (p.Asp1073Ala)
7g.117614706A>GCA327198CFTRc.3461A>G (p.Asp1154Gly)
c.*3175A>G (n.*3175A>G)
c.3278A>G (p.Asp1093Gly)
c.*1836A>G (n.*1836A>G)
c.3455A>G (p.Asp1152Gly)
c.*3285A>G (n.*3285A>G)
c.3035A>G (p.Asp1012Gly)
c.209A>G (p.Asp70Gly)
c.1052A>G (p.Asp351Gly)
c.43A>G
c.1111A>G
c.2243A>G (p.Asp748Gly)
c.3371A>G (p.Asp1124Gly)
c.286A>G
c.3551A>G (p.Asp1184Gly)
c.3218A>G (p.Asp1073Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117614706A>TCA164968943CFTRc.3461A>T (p.Asp1154Val)
c.*3175A>T (n.*3175A>T)
c.3278A>T (p.Asp1093Val)
c.*1836A>T (n.*1836A>T)
c.3455A>T (p.Asp1152Val)
c.*3285A>T (n.*3285A>T)
c.3035A>T (p.Asp1012Val)
c.209A>T (p.Asp70Val)
c.1052A>T (p.Asp351Val)
c.43A>T
c.1111A>T
c.2243A>T (p.Asp748Val)
c.3371A>T (p.Asp1124Val)
c.286A>T
c.3551A>T (p.Asp1184Val)
c.3218A>T (p.Asp1073Val)
 dbSNP
7g.117614707T>ACA368993730CFTRc.3462T>A (p.Asp1154Glu)
c.*3176T>A (n.*3176T>A)
c.3279T>A (p.Asp1093Glu)
c.*1837T>A (n.*1837T>A)
c.3456T>A (p.Asp1152Glu)
c.*3286T>A (n.*3286T>A)
c.3036T>A (p.Asp1012Glu)
c.210T>A (p.Asp70Glu)
c.1053T>A (p.Asp351Glu)
c.44T>A
c.1112T>A
c.2244T>A (p.Asp748Glu)
c.3372T>A (p.Asp1124Glu)
c.287T>A
c.3552T>A (p.Asp1184Glu)
c.3219T>A (p.Asp1073Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117614707T>CCA457230212CFTRc.3462T>C (p.Asp1154=)
c.*3176T>C (n.*3176T>C)
c.3279T>C (p.Asp1093=)
c.*1837T>C (n.*1837T>C)
c.3456T>C (p.Asp1152=)
c.*3286T>C (n.*3286T>C)
c.3036T>C (p.Asp1012=)
c.210T>C (p.Asp70=)
c.1053T>C (p.Asp351=)
c.44T>C
c.1112T>C
c.2244T>C (p.Asp748=)
c.3372T>C (p.Asp1124=)
c.287T>C
c.3552T>C (p.Asp1184=)
c.3219T>C (p.Asp1073=)
7g.117614707T>GCA368993731CFTRc.3462T>G (p.Asp1154Glu)
c.*3176T>G (n.*3176T>G)
c.3279T>G (p.Asp1093Glu)
c.*1837T>G (n.*1837T>G)
c.3456T>G (p.Asp1152Glu)
c.*3286T>G (n.*3286T>G)
c.3036T>G (p.Asp1012Glu)
c.210T>G (p.Asp70Glu)
c.1053T>G (p.Asp351Glu)
c.44T>G
c.1112T>G
c.2244T>G (p.Asp748Glu)
c.3372T>G (p.Asp1124Glu)
c.287T>G
c.3552T>G (p.Asp1184Glu)
c.3219T>G (p.Asp1073Glu)
 gnomAD v4
7g.117614707T=CA1737392259CFTRc.3462T= (p.Asp1154=)
c.*3176T= (n.*3176T=)
c.3279T= (p.Asp1093=)
c.*1837T= (n.*1837T=)
c.3456T= (p.Asp1152=)
c.*3286T= (n.*3286T=)
c.3036T= (p.Asp1012=)
c.210T= (p.Asp70=)
c.1053T= (p.Asp351=)
c.44T=
c.1112T=
c.2244T= (p.Asp748=)
c.3372T= (p.Asp1124=)
c.287T=
c.3552T= (p.Asp1184=)
c.3219T= (p.Asp1073=)
7g.117614708A>CCA368993735CFTRc.3463A>C (p.Ser1155Arg)
c.*3177A>C (n.*3177A>C)
c.3280A>C (p.Ser1094Arg)
c.*1838A>C (n.*1838A>C)
c.3457A>C (p.Ser1153Arg)
c.*3287A>C (n.*3287A>C)
c.3037A>C (p.Ser1013Arg)
c.211A>C (p.Ser71Arg)
c.1054A>C (p.Ser352Arg)
c.45A>C
c.1113A>C
c.2245A>C (p.Ser749Arg)
c.3373A>C (p.Ser1125Arg)
c.288A>C
c.3553A>C (p.Ser1185Arg)
c.3220A>C (p.Ser1074Arg)
7g.117614708A>GCA368993736CFTRc.3463A>G (p.Ser1155Gly)
c.*3177A>G (n.*3177A>G)
c.3280A>G (p.Ser1094Gly)
c.*1838A>G (n.*1838A>G)
c.3457A>G (p.Ser1153Gly)
c.*3287A>G (n.*3287A>G)
c.3037A>G (p.Ser1013Gly)
c.211A>G (p.Ser71Gly)
c.1054A>G (p.Ser352Gly)
c.45A>G
c.1113A>G
c.2245A>G (p.Ser749Gly)
c.3373A>G (p.Ser1125Gly)
c.288A>G
c.3553A>G (p.Ser1185Gly)
c.3220A>G (p.Ser1074Gly)
7g.117614708A>TCA368993738CFTRc.3463A>T (p.Ser1155Cys)
c.*3177A>T (n.*3177A>T)
c.3280A>T (p.Ser1094Cys)
c.*1838A>T (n.*1838A>T)
c.3457A>T (p.Ser1153Cys)
c.*3287A>T (n.*3287A>T)
c.3037A>T (p.Ser1013Cys)
c.211A>T (p.Ser71Cys)
c.1054A>T (p.Ser352Cys)
c.45A>T
c.1113A>T
c.2245A>T (p.Ser749Cys)
c.3373A>T (p.Ser1125Cys)
c.288A>T
c.3553A>T (p.Ser1185Cys)
c.3220A>T (p.Ser1074Cys)
7g.117614709G>ACA368993740CFTRc.3464G>A (p.Ser1155Asn)
c.*3178G>A (n.*3178G>A)
c.3281G>A (p.Ser1094Asn)
c.*1839G>A (n.*1839G>A)
c.3458G>A (p.Ser1153Asn)
c.*3288G>A (n.*3288G>A)
c.3038G>A (p.Ser1013Asn)
c.212G>A (p.Ser71Asn)
c.1055G>A (p.Ser352Asn)
c.46G>A
c.1114G>A
c.2246G>A (p.Ser749Asn)
c.3374G>A (p.Ser1125Asn)
c.289G>A
c.3554G>A (p.Ser1185Asn)
c.3221G>A (p.Ser1074Asn)
7g.117614709G>CCA368993745CFTRc.3464G>C (p.Ser1155Thr)
c.*3178G>C (n.*3178G>C)
c.3281G>C (p.Ser1094Thr)
c.*1839G>C (n.*1839G>C)
c.3458G>C (p.Ser1153Thr)
c.*3288G>C (n.*3288G>C)
c.3038G>C (p.Ser1013Thr)
c.212G>C (p.Ser71Thr)
c.1055G>C (p.Ser352Thr)
c.46G>C
c.1114G>C
c.2246G>C (p.Ser749Thr)
c.3374G>C (p.Ser1125Thr)
c.289G>C
c.3554G>C (p.Ser1185Thr)
c.3221G>C (p.Ser1074Thr)
7g.117614709G>TCA368993743CFTRc.3464G>T (p.Ser1155Ile)
c.*3178G>T (n.*3178G>T)
c.3281G>T (p.Ser1094Ile)
c.*1839G>T (n.*1839G>T)
c.3458G>T (p.Ser1153Ile)
c.*3288G>T (n.*3288G>T)
c.3038G>T (p.Ser1013Ile)
c.212G>T (p.Ser71Ile)
c.1055G>T (p.Ser352Ile)
c.46G>T
c.1114G>T
c.2246G>T (p.Ser749Ile)
c.3374G>T (p.Ser1125Ile)
c.289G>T
c.3554G>T (p.Ser1185Ile)
c.3221G>T (p.Ser1074Ile)
7g.117614710C>ACA368993747CFTRc.3465C>A (p.Ser1155Arg)
c.*3179C>A (n.*3179C>A)
c.3282C>A (p.Ser1094Arg)
c.*1840C>A (n.*1840C>A)
c.3459C>A (p.Ser1153Arg)
c.*3289C>A (n.*3289C>A)
c.3039C>A (p.Ser1013Arg)
c.213C>A (p.Ser71Arg)
c.1056C>A (p.Ser352Arg)
c.47C>A
c.1115C>A
c.2247C>A (p.Ser749Arg)
c.3375C>A (p.Ser1125Arg)
c.290C>A
c.3555C>A (p.Ser1185Arg)
c.3222C>A (p.Ser1074Arg)
 ClinVar gnomAD v4
7g.117614710C>GCA368993749CFTRc.3465C>G (p.Ser1155Arg)
c.*3179C>G (n.*3179C>G)
c.3282C>G (p.Ser1094Arg)
c.*1840C>G (n.*1840C>G)
c.3459C>G (p.Ser1153Arg)
c.*3289C>G (n.*3289C>G)
c.3039C>G (p.Ser1013Arg)
c.213C>G (p.Ser71Arg)
c.1056C>G (p.Ser352Arg)
c.47C>G
c.1115C>G
c.2247C>G (p.Ser749Arg)
c.3375C>G (p.Ser1125Arg)
c.290C>G
c.3555C>G (p.Ser1185Arg)
c.3222C>G (p.Ser1074Arg)
7g.117614710C>TCA457230214CFTRc.3465C>T (p.Ser1155=)
c.*3179C>T (n.*3179C>T)
c.3282C>T (p.Ser1094=)
c.*1840C>T (n.*1840C>T)
c.3459C>T (p.Ser1153=)
c.*3289C>T (n.*3289C>T)
c.3039C>T (p.Ser1013=)
c.213C>T (p.Ser71=)
c.1056C>T (p.Ser352=)
c.47C>T
c.1115C>T
c.2247C>T (p.Ser749=)
c.3375C>T (p.Ser1125=)
c.290C>T
c.3555C>T (p.Ser1185=)
c.3222C>T (p.Ser1074=)
7g.117614711T>ACA368993751CFTRc.3466T>A (p.Leu1156Met)
c.*3180T>A (n.*3180T>A)
c.3283T>A (p.Leu1095Met)
c.*1841T>A (n.*1841T>A)
c.3460T>A (p.Leu1154Met)
c.*3290T>A (n.*3290T>A)
c.3040T>A (p.Leu1014Met)
c.214T>A (p.Leu72Met)
c.1057T>A (p.Leu353Met)
c.48T>A
c.1116T>A
c.2248T>A (p.Leu750Met)
c.3376T>A (p.Leu1126Met)
c.291T>A
c.3556T>A (p.Leu1186Met)
c.3223T>A (p.Leu1075Met)
7g.117614711T>CCA457230215CFTRc.3466T>C (p.Leu1156=)
c.*3180T>C (n.*3180T>C)
c.3283T>C (p.Leu1095=)
c.*1841T>C (n.*1841T>C)
c.3460T>C (p.Leu1154=)
c.*3290T>C (n.*3290T>C)
c.3040T>C (p.Leu1014=)
c.214T>C (p.Leu72=)
c.1057T>C (p.Leu353=)
c.48T>C
c.1116T>C
c.2248T>C (p.Leu750=)
c.3376T>C (p.Leu1126=)
c.291T>C
c.3556T>C (p.Leu1186=)
c.3223T>C (p.Leu1075=)
7g.117614711T>GCA368993753CFTRc.3466T>G (p.Leu1156Val)
c.*3180T>G (n.*3180T>G)
c.3283T>G (p.Leu1095Val)
c.*1841T>G (n.*1841T>G)
c.3460T>G (p.Leu1154Val)
c.*3290T>G (n.*3290T>G)
c.3040T>G (p.Leu1014Val)
c.214T>G (p.Leu72Val)
c.1057T>G (p.Leu353Val)
c.48T>G
c.1116T>G
c.2248T>G (p.Leu750Val)
c.3376T>G (p.Leu1126Val)
c.291T>G
c.3556T>G (p.Leu1186Val)
c.3223T>G (p.Leu1075Val)
7g.117614712T>ACA368993755CFTRc.3467T>A (p.Leu1156Ter)
c.*3181T>A (n.*3181T>A)
c.3284T>A (p.Leu1095Ter)
c.*1842T>A (n.*1842T>A)
c.3461T>A (p.Leu1154Ter)
c.*3291T>A (n.*3291T>A)
c.3041T>A (p.Leu1014Ter)
c.215T>A (p.Leu72Ter)
c.1058T>A (p.Leu353Ter)
c.49T>A
c.1117T>A
c.2249T>A (p.Leu750Ter)
c.3377T>A (p.Leu1126Ter)
c.292T>A
c.3557T>A (p.Leu1186Ter)
c.3224T>A (p.Leu1075Ter)
7g.117614712T>CCA368993757CFTRc.3467T>C (p.Leu1156Ser)
c.*3181T>C (n.*3181T>C)
c.3284T>C (p.Leu1095Ser)
c.*1842T>C (n.*1842T>C)
c.3461T>C (p.Leu1154Ser)
c.*3291T>C (n.*3291T>C)
c.3041T>C (p.Leu1014Ser)
c.215T>C (p.Leu72Ser)
c.1058T>C (p.Leu353Ser)
c.49T>C
c.1117T>C
c.2249T>C (p.Leu750Ser)
c.3377T>C (p.Leu1126Ser)
c.292T>C
c.3557T>C (p.Leu1186Ser)
c.3224T>C (p.Leu1075Ser)
7g.117614712T>GCA368993759CFTRc.3467T>G (p.Leu1156Trp)
c.*3181T>G (n.*3181T>G)
c.3284T>G (p.Leu1095Trp)
c.*1842T>G (n.*1842T>G)
c.3461T>G (p.Leu1154Trp)
c.*3291T>G (n.*3291T>G)
c.3041T>G (p.Leu1014Trp)
c.215T>G (p.Leu72Trp)
c.1058T>G (p.Leu353Trp)
c.49T>G
c.1117T>G
c.2249T>G (p.Leu750Trp)
c.3377T>G (p.Leu1126Trp)
c.292T>G
c.3557T>G (p.Leu1186Trp)
c.3224T>G (p.Leu1075Trp)
 COSMIC
7g.117614713G>ACA242034CFTRc.3468G>A (p.Leu1156=)
c.*3182G>A (n.*3182G>A)
c.3285G>A (p.Leu1095=)
c.*1843G>A (n.*1843G>A)
c.3462G>A (p.Leu1154=)
c.*3292G>A (n.*3292G>A)
c.3042G>A (p.Leu1014=)
c.216G>A (p.Leu72=)
c.1059G>A (p.Leu353=)
c.50G>A
c.1118G>A
c.2250G>A (p.Leu750=)
c.3378G>A (p.Leu1126=)
c.293G>A
c.3558G>A (p.Leu1186=)
c.3225G>A (p.Leu1075=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117614713G>CCA368993763CFTRc.3468G>C (p.Leu1156Phe)
c.*3182G>C (n.*3182G>C)
c.3285G>C (p.Leu1095Phe)
c.*1843G>C (n.*1843G>C)
c.3462G>C (p.Leu1154Phe)
c.*3292G>C (n.*3292G>C)
c.3042G>C (p.Leu1014Phe)
c.216G>C (p.Leu72Phe)
c.1059G>C (p.Leu353Phe)
c.50G>C
c.1118G>C
c.2250G>C (p.Leu750Phe)
c.3378G>C (p.Leu1126Phe)
c.293G>C
c.3558G>C (p.Leu1186Phe)
c.3225G>C (p.Leu1075Phe)
7g.117614713G=CA1737392261CFTRc.3468G= (p.Leu1156=)
c.*3182G= (n.*3182G=)
c.3285G= (p.Leu1095=)
c.*1843G= (n.*1843G=)
c.3462G= (p.Leu1154=)
c.*3292G= (n.*3292G=)
c.3042G= (p.Leu1014=)
c.216G= (p.Leu72=)
c.1059G= (p.Leu353=)
c.50G=
c.1118G=
c.2250G= (p.Leu750=)
c.3378G= (p.Leu1126=)
c.293G=
c.3558G= (p.Leu1186=)
c.3225G= (p.Leu1075=)
7g.117614713G>TCA4451462CFTRc.3468G>T (p.Leu1156Phe)
c.*3182G>T (n.*3182G>T)
c.3285G>T (p.Leu1095Phe)
c.*1843G>T (n.*1843G>T)
c.3462G>T (p.Leu1154Phe)
c.*3292G>T (n.*3292G>T)
c.3042G>T (p.Leu1014Phe)
c.216G>T (p.Leu72Phe)
c.1059G>T (p.Leu353Phe)
c.50G>T
c.1118G>T
c.2250G>T (p.Leu750Phe)
c.3378G>T (p.Leu1126Phe)
c.293G>T
c.3558G>T (p.Leu1186Phe)
c.3225G>T (p.Leu1075Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614713_117614719delinsATAAAAAGCTTATAAAAAGCA2580076400CFTRc.3468_3468+6delinsATAAAAAGCTTATAAAAAG
c.*3182_*3182+6delinsATAAAAAGCTTATAAAAAG
c.3285_3285+6delinsATAAAAAGCTTATAAAAAG
c.*1843_*1843+6delinsATAAAAAGCTTATAAAAAG
c.3462_3462+6delinsATAAAAAGCTTATAAAAAG
c.*3292_*3292+6delinsATAAAAAGCTTATAAAAAG
c.3042_3042+6delinsATAAAAAGCTTATAAAAAG
c.216_216+6delinsATAAAAAGCTTATAAAAAG
c.1059_1059+6delinsATAAAAAGCTTATAAAAAG
c.50_50+6delinsATAAAAAGCTTATAAAAAG
c.1118_1118+6delinsATAAAAAGCTTATAAAAAG
c.2250_2250+6delinsATAAAAAGCTTATAAAAAG
c.3378_3378+6delinsATAAAAAGCTTATAAAAAG
c.293_293+6delinsATAAAAAGCTTATAAAAAG
c.3558_3558+6delinsATAAAAAGCTTATAAAAAG
c.3225_3225+6delinsATAAAAAGCTTATAAAAAG
 ClinVar
7g.117614714G>ACA368993767CFTRc.3468+1G>A (n.3468+1G>A)
c.*3182+1G>A (n.*3182+1G>A)
c.3285+1G>A (n.3285+1G>A)
c.*1843+1G>A (n.*1843+1G>A)
c.3462+1G>A (n.3462+1G>A)
c.*3292+1G>A (n.*3292+1G>A)
c.3042+1G>A (n.3042+1G>A)
c.216+1G>A (n.216+1G>A)
c.1059+1G>A (n.1059+1G>A)
c.50+1G>A
c.1118+1G>A
c.2250+1G>A (n.2250+1G>A)
c.3378+1G>A (n.3378+1G>A)
c.293+1G>A
c.3558+1G>A (n.3558+1G>A)
c.3225+1G>A (n.3225+1G>A)
 ClinVar dbSNP
7g.117614714G>CCA368993771CFTRc.3468+1G>C (n.3468+1G>C)
c.*3182+1G>C (n.*3182+1G>C)
c.3285+1G>C (n.3285+1G>C)
c.*1843+1G>C (n.*1843+1G>C)
c.3462+1G>C (n.3462+1G>C)
c.*3292+1G>C (n.*3292+1G>C)
c.3042+1G>C (n.3042+1G>C)
c.216+1G>C (n.216+1G>C)
c.1059+1G>C (n.1059+1G>C)
c.50+1G>C
c.1118+1G>C
c.2250+1G>C (n.2250+1G>C)
c.3378+1G>C (n.3378+1G>C)
c.293+1G>C
c.3558+1G>C (n.3558+1G>C)
c.3225+1G>C (n.3225+1G>C)
7g.117614714G=CA1737392263CFTRc.3468+1G= (n.3468+1G=)
c.*3182+1G= (n.*3182+1G=)
c.3285+1G= (n.3285+1G=)
c.*1843+1G= (n.*1843+1G=)
c.3462+1G= (n.3462+1G=)
c.*3292+1G= (n.*3292+1G=)
c.3042+1G= (n.3042+1G=)
c.216+1G= (n.216+1G=)
c.1059+1G= (n.1059+1G=)
c.50+1G=
c.1118+1G=
c.2250+1G= (n.2250+1G=)
c.3378+1G= (n.3378+1G=)
c.293+1G=
c.3558+1G= (n.3558+1G=)
c.3225+1G= (n.3225+1G=)
7g.117614714G>TCA368993769CFTRc.3468+1G>T (n.3468+1G>T)
c.*3182+1G>T (n.*3182+1G>T)
c.3285+1G>T (n.3285+1G>T)
c.*1843+1G>T (n.*1843+1G>T)
c.3462+1G>T (n.3462+1G>T)
c.*3292+1G>T (n.*3292+1G>T)
c.3042+1G>T (n.3042+1G>T)
c.216+1G>T (n.216+1G>T)
c.1059+1G>T (n.1059+1G>T)
c.50+1G>T
c.1118+1G>T
c.2250+1G>T (n.2250+1G>T)
c.3378+1G>T (n.3378+1G>T)
c.293+1G>T
c.3558+1G>T (n.3558+1G>T)
c.3225+1G>T (n.3225+1G>T)
 ClinVar dbSNP
7g.117614715T>ACA368993774CFTRc.3468+2T>A (n.3468+2T>A)
c.*3182+2T>A (n.*3182+2T>A)
c.3285+2T>A (n.3285+2T>A)
c.*1843+2T>A (n.*1843+2T>A)
c.3462+2T>A (n.3462+2T>A)
c.*3292+2T>A (n.*3292+2T>A)
c.3042+2T>A (n.3042+2T>A)
c.216+2T>A (n.216+2T>A)
c.1059+2T>A (n.1059+2T>A)
c.50+2T>A
c.1118+2T>A
c.2250+2T>A (n.2250+2T>A)
c.3378+2T>A (n.3378+2T>A)
c.293+2T>A
c.3558+2T>A (n.3558+2T>A)
c.3225+2T>A (n.3225+2T>A)
7g.117614715T>CCA368993778CFTRc.3468+2T>C (n.3468+2T>C)
c.*3182+2T>C (n.*3182+2T>C)
c.3285+2T>C (n.3285+2T>C)
c.*1843+2T>C (n.*1843+2T>C)
c.3462+2T>C (n.3462+2T>C)
c.*3292+2T>C (n.*3292+2T>C)
c.3042+2T>C (n.3042+2T>C)
c.216+2T>C (n.216+2T>C)
c.1059+2T>C (n.1059+2T>C)
c.50+2T>C
c.1118+2T>C
c.2250+2T>C (n.2250+2T>C)
c.3378+2T>C (n.3378+2T>C)
c.293+2T>C
c.3558+2T>C (n.3558+2T>C)
c.3225+2T>C (n.3225+2T>C)
 ClinVar dbSNP
7g.117614715T>GCA368993776CFTRc.3468+2T>G (n.3468+2T>G)
c.*3182+2T>G (n.*3182+2T>G)
c.3285+2T>G (n.3285+2T>G)
c.*1843+2T>G (n.*1843+2T>G)
c.3462+2T>G (n.3462+2T>G)
c.*3292+2T>G (n.*3292+2T>G)
c.3042+2T>G (n.3042+2T>G)
c.216+2T>G (n.216+2T>G)
c.1059+2T>G (n.1059+2T>G)
c.50+2T>G
c.1118+2T>G
c.2250+2T>G (n.2250+2T>G)
c.3378+2T>G (n.3378+2T>G)
c.293+2T>G
c.3558+2T>G (n.3558+2T>G)
c.3225+2T>G (n.3225+2T>G)
7g.117614715T=CA1737392266CFTRc.3468+2T= (n.3468+2T=)
c.*3182+2T= (n.*3182+2T=)
c.3285+2T= (n.3285+2T=)
c.*1843+2T= (n.*1843+2T=)
c.3462+2T= (n.3462+2T=)
c.*3292+2T= (n.*3292+2T=)
c.3042+2T= (n.3042+2T=)
c.216+2T= (n.216+2T=)
c.1059+2T= (n.1059+2T=)
c.50+2T=
c.1118+2T=
c.2250+2T= (n.2250+2T=)
c.3378+2T= (n.3378+2T=)
c.293+2T=
c.3558+2T= (n.3558+2T=)
c.3225+2T= (n.3225+2T=)
7g.117614715dupCA658657705CFTRc.3468+2dup (n.3468+2dup)
c.*3182+2dup (n.*3182+2dup)
c.3285+2dup (n.3285+2dup)
c.*1843+2dup (n.*1843+2dup)
c.3462+2dup (n.3462+2dup)
c.*3292+2dup (n.*3292+2dup)
c.3042+2dup (n.3042+2dup)
c.216+2dup (n.216+2dup)
c.1059+2dup (n.1059+2dup)
c.50+2dup
c.1118+2dup
c.2250+2dup (n.2250+2dup)
c.3378+2dup (n.3378+2dup)
c.293+2dup
c.3558+2dup (n.3558+2dup)
c.3225+2dup (n.3225+2dup)
 ClinVar dbSNP gnomAD v4
7g.117614716A>GCA2579000305CFTRc.3468+3A>G (n.3468+3A>G)
c.*3182+3A>G (n.*3182+3A>G)
c.3285+3A>G (n.3285+3A>G)
c.*1843+3A>G (n.*1843+3A>G)
c.3462+3A>G (n.3462+3A>G)
c.*3292+3A>G (n.*3292+3A>G)
c.3042+3A>G (n.3042+3A>G)
c.216+3A>G (n.216+3A>G)
c.1059+3A>G (n.1059+3A>G)
c.50+3A>G
c.1118+3A>G
c.2250+3A>G (n.2250+3A>G)
c.3378+3A>G (n.3378+3A>G)
c.293+3A>G
c.3558+3A>G (n.3558+3A>G)
c.3225+3A>G (n.3225+3A>G)
 dbSNP
7g.117614717A>CCA2684619892CFTRc.3468+4A>C (n.3468+4A>C)
c.*3182+4A>C (n.*3182+4A>C)
c.3285+4A>C (n.3285+4A>C)
c.*1843+4A>C (n.*1843+4A>C)
c.3462+4A>C (n.3462+4A>C)
c.*3292+4A>C (n.*3292+4A>C)
c.3042+4A>C (n.3042+4A>C)
c.216+4A>C (n.216+4A>C)
c.1059+4A>C (n.1059+4A>C)
c.50+4A>C
c.1118+4A>C
c.2250+4A>C (n.2250+4A>C)
c.3378+4A>C (n.3378+4A>C)
c.293+4A>C
c.3558+4A>C (n.3558+4A>C)
c.3225+4A>C (n.3225+4A>C)
 gnomAD v4
7g.117614718G>ACA658657706CFTRc.3468+5G>A (n.3468+5G>A)
c.*3182+5G>A (n.*3182+5G>A)
c.3285+5G>A (n.3285+5G>A)
c.*1843+5G>A (n.*1843+5G>A)
c.3462+5G>A (n.3462+5G>A)
c.*3292+5G>A (n.*3292+5G>A)
c.3042+5G>A (n.3042+5G>A)
c.216+5G>A (n.216+5G>A)
c.1059+5G>A (n.1059+5G>A)
c.50+5G>A
c.1118+5G>A
c.2250+5G>A (n.2250+5G>A)
c.3378+5G>A (n.3378+5G>A)
c.293+5G>A
c.3558+5G>A (n.3558+5G>A)
c.3225+5G>A (n.3225+5G>A)
 ClinVar dbSNP
7g.117614718G=CA1737392268CFTRc.3468+5G= (n.3468+5G=)
c.*3182+5G= (n.*3182+5G=)
c.3285+5G= (n.3285+5G=)
c.*1843+5G= (n.*1843+5G=)
c.3462+5G= (n.3462+5G=)
c.*3292+5G= (n.*3292+5G=)
c.3042+5G= (n.3042+5G=)
c.216+5G= (n.216+5G=)
c.1059+5G= (n.1059+5G=)
c.50+5G=
c.1118+5G=
c.2250+5G= (n.2250+5G=)
c.3378+5G= (n.3378+5G=)
c.293+5G=
c.3558+5G= (n.3558+5G=)
c.3225+5G= (n.3225+5G=)
7g.117614719T>ACA10623102CFTRc.3468+6T>A (n.3468+6T>A)
c.*3182+6T>A (n.*3182+6T>A)
c.3285+6T>A (n.3285+6T>A)
c.*1843+6T>A (n.*1843+6T>A)
c.3462+6T>A (n.3462+6T>A)
c.*3292+6T>A (n.*3292+6T>A)
c.3042+6T>A (n.3042+6T>A)
c.216+6T>A (n.216+6T>A)
c.1059+6T>A (n.1059+6T>A)
c.50+6T>A
c.1118+6T>A
c.2250+6T>A (n.2250+6T>A)
c.3378+6T>A (n.3378+6T>A)
c.293+6T>A
c.3558+6T>A (n.3558+6T>A)
c.3225+6T>A (n.3225+6T>A)
 ClinVar dbSNP
7g.117614719T>CCA4451463CFTRc.3468+6T>C (n.3468+6T>C)
c.*3182+6T>C (n.*3182+6T>C)
c.3285+6T>C (n.3285+6T>C)
c.*1843+6T>C (n.*1843+6T>C)
c.3462+6T>C (n.3462+6T>C)
c.*3292+6T>C (n.*3292+6T>C)
c.3042+6T>C (n.3042+6T>C)
c.216+6T>C (n.216+6T>C)
c.1059+6T>C (n.1059+6T>C)
c.50+6T>C
c.1118+6T>C
c.2250+6T>C (n.2250+6T>C)
c.3378+6T>C (n.3378+6T>C)
c.293+6T>C
c.3558+6T>C (n.3558+6T>C)
c.3225+6T>C (n.3225+6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614719T=CA1737392270CFTRc.3468+6T= (n.3468+6T=)
c.*3182+6T= (n.*3182+6T=)
c.3285+6T= (n.3285+6T=)
c.*1843+6T= (n.*1843+6T=)
c.3462+6T= (n.3462+6T=)
c.*3292+6T= (n.*3292+6T=)
c.3042+6T= (n.3042+6T=)
c.216+6T= (n.216+6T=)
c.1059+6T= (n.1059+6T=)
c.50+6T=
c.1118+6T=
c.2250+6T= (n.2250+6T=)
c.3378+6T= (n.3378+6T=)
c.293+6T=
c.3558+6T= (n.3558+6T=)
c.3225+6T= (n.3225+6T=)
7g.117614720C>ACA2684619893CFTRc.3468+7C>A (n.3468+7C>A)
c.*3182+7C>A (n.*3182+7C>A)
c.3285+7C>A (n.3285+7C>A)
c.*1843+7C>A (n.*1843+7C>A)
c.3462+7C>A (n.3462+7C>A)
c.*3292+7C>A (n.*3292+7C>A)
c.3042+7C>A (n.3042+7C>A)
c.216+7C>A (n.216+7C>A)
c.1059+7C>A (n.1059+7C>A)
c.50+7C>A
c.1118+7C>A
c.2250+7C>A (n.2250+7C>A)
c.3378+7C>A (n.3378+7C>A)
c.293+7C>A
c.3558+7C>A (n.3558+7C>A)
c.3225+7C>A (n.3225+7C>A)
 gnomAD v4
7g.117614722T>ACA2501138862CFTRc.3468+9T>A (n.3468+9T>A)
c.*3182+9T>A (n.*3182+9T>A)
c.3285+9T>A (n.3285+9T>A)
c.*1843+9T>A (n.*1843+9T>A)
c.3462+9T>A (n.3462+9T>A)
c.*3292+9T>A (n.*3292+9T>A)
c.3042+9T>A (n.3042+9T>A)
c.216+9T>A (n.216+9T>A)
c.1059+9T>A (n.1059+9T>A)
c.50+9T>A
c.1118+9T>A
c.2250+9T>A (n.2250+9T>A)
c.3378+9T>A (n.3378+9T>A)
c.293+9T>A
c.3558+9T>A (n.3558+9T>A)
c.3225+9T>A (n.3225+9T>A)
7g.117614722T>CCA2684619894CFTRc.3468+9T>C (n.3468+9T>C)
c.*3182+9T>C (n.*3182+9T>C)
c.3285+9T>C (n.3285+9T>C)
c.*1843+9T>C (n.*1843+9T>C)
c.3462+9T>C (n.3462+9T>C)
c.*3292+9T>C (n.*3292+9T>C)
c.3042+9T>C (n.3042+9T>C)
c.216+9T>C (n.216+9T>C)
c.1059+9T>C (n.1059+9T>C)
c.50+9T>C
c.1118+9T>C
c.2250+9T>C (n.2250+9T>C)
c.3378+9T>C (n.3378+9T>C)
c.293+9T>C
c.3558+9T>C (n.3558+9T>C)
c.3225+9T>C (n.3225+9T>C)
 gnomAD v4
7g.117614726_117614728delCA2684619895CFTRc.3468+13_3468+15del (n.3468+13_3468+15del)
c.*3182+13_*3182+15del (n.*3182+13_*3182+15del)
c.3285+13_3285+15del (n.3285+13_3285+15del)
c.*1843+13_*1843+15del (n.*1843+13_*1843+15del)
c.3462+13_3462+15del (n.3462+13_3462+15del)
c.*3292+13_*3292+15del (n.*3292+13_*3292+15del)
c.3042+13_3042+15del (n.3042+13_3042+15del)
c.216+13_216+15del (n.216+13_216+15del)
c.1059+13_1059+15del (n.1059+13_1059+15del)
c.50+13_50+15del
c.1118+13_1118+15del
c.2250+13_2250+15del (n.2250+13_2250+15del)
c.3378+13_3378+15del (n.3378+13_3378+15del)
c.293+13_293+15del
c.3558+13_3558+15del (n.3558+13_3558+15del)
c.3225+13_3225+15del (n.3225+13_3225+15del)
 gnomAD v4
7g.117614724T>CCA4451464CFTRc.3468+11T>C (n.3468+11T>C)
c.*3182+11T>C (n.*3182+11T>C)
c.3285+11T>C (n.3285+11T>C)
c.*1843+11T>C (n.*1843+11T>C)
c.3462+11T>C (n.3462+11T>C)
c.*3292+11T>C (n.*3292+11T>C)
c.3042+11T>C (n.3042+11T>C)
c.216+11T>C (n.216+11T>C)
c.1059+11T>C (n.1059+11T>C)
c.50+11T>C
c.1118+11T>C
c.2250+11T>C (n.2250+11T>C)
c.3378+11T>C (n.3378+11T>C)
c.293+11T>C
c.3558+11T>C (n.3558+11T>C)
c.3225+11T>C (n.3225+11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614724T=CA1737392272CFTRc.3468+11T= (n.3468+11T=)
c.*3182+11T= (n.*3182+11T=)
c.3285+11T= (n.3285+11T=)
c.*1843+11T= (n.*1843+11T=)
c.3462+11T= (n.3462+11T=)
c.*3292+11T= (n.*3292+11T=)
c.3042+11T= (n.3042+11T=)
c.216+11T= (n.216+11T=)
c.1059+11T= (n.1059+11T=)
c.50+11T=
c.1118+11T=
c.2250+11T= (n.2250+11T=)
c.3378+11T= (n.3378+11T=)
c.293+11T=
c.3558+11T= (n.3558+11T=)
c.3225+11T= (n.3225+11T=)
7g.117614725C>ACA2684619896CFTRc.3468+12C>A (n.3468+12C>A)
c.*3182+12C>A (n.*3182+12C>A)
c.3285+12C>A (n.3285+12C>A)
c.*1843+12C>A (n.*1843+12C>A)
c.3462+12C>A (n.3462+12C>A)
c.*3292+12C>A (n.*3292+12C>A)
c.3042+12C>A (n.3042+12C>A)
c.216+12C>A (n.216+12C>A)
c.1059+12C>A (n.1059+12C>A)
c.50+12C>A
c.1118+12C>A
c.2250+12C>A (n.2250+12C>A)
c.3378+12C>A (n.3378+12C>A)
c.293+12C>A
c.3558+12C>A (n.3558+12C>A)
c.3225+12C>A (n.3225+12C>A)
 gnomAD v4
7g.117614725C=CA1737392274CFTRc.3468+12C= (n.3468+12C=)
c.*3182+12C= (n.*3182+12C=)
c.3285+12C= (n.3285+12C=)
c.*1843+12C= (n.*1843+12C=)
c.3462+12C= (n.3462+12C=)
c.*3292+12C= (n.*3292+12C=)
c.3042+12C= (n.3042+12C=)
c.216+12C= (n.216+12C=)
c.1059+12C= (n.1059+12C=)
c.50+12C=
c.1118+12C=
c.2250+12C= (n.2250+12C=)
c.3378+12C= (n.3378+12C=)
c.293+12C=
c.3558+12C= (n.3558+12C=)
c.3225+12C= (n.3225+12C=)
7g.117614725C>TCA577222850CFTRc.3468+12C>T (n.3468+12C>T)
c.*3182+12C>T (n.*3182+12C>T)
c.3285+12C>T (n.3285+12C>T)
c.*1843+12C>T (n.*1843+12C>T)
c.3462+12C>T (n.3462+12C>T)
c.*3292+12C>T (n.*3292+12C>T)
c.3042+12C>T (n.3042+12C>T)
c.216+12C>T (n.216+12C>T)
c.1059+12C>T (n.1059+12C>T)
c.50+12C>T
c.1118+12C>T
c.2250+12C>T (n.2250+12C>T)
c.3378+12C>T (n.3378+12C>T)
c.293+12C>T
c.3558+12C>T (n.3558+12C>T)
c.3225+12C>T (n.3225+12C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117614726A=CA1737392275CFTRc.3468+13A= (n.3468+13A=)
c.*3182+13A= (n.*3182+13A=)
c.3285+13A= (n.3285+13A=)
c.*1843+13A= (n.*1843+13A=)
c.3462+13A= (n.3462+13A=)
c.*3292+13A= (n.*3292+13A=)
c.3042+13A= (n.3042+13A=)
c.216+13A= (n.216+13A=)
c.1059+13A= (n.1059+13A=)
c.50+13A=
c.1118+13A=
c.2250+13A= (n.2250+13A=)
c.3378+13A= (n.3378+13A=)
c.293+13A=
c.3558+13A= (n.3558+13A=)
c.3225+13A= (n.3225+13A=)
7g.117614726A>GCA1737392276CFTRc.3468+13A>G (n.3468+13A>G)
c.*3182+13A>G (n.*3182+13A>G)
c.3285+13A>G (n.3285+13A>G)
c.*1843+13A>G (n.*1843+13A>G)
c.3462+13A>G (n.3462+13A>G)
c.*3292+13A>G (n.*3292+13A>G)
c.3042+13A>G (n.3042+13A>G)
c.216+13A>G (n.216+13A>G)
c.1059+13A>G (n.1059+13A>G)
c.50+13A>G
c.1118+13A>G
c.2250+13A>G (n.2250+13A>G)
c.3378+13A>G (n.3378+13A>G)
c.293+13A>G
c.3558+13A>G (n.3558+13A>G)
c.3225+13A>G (n.3225+13A>G)
 ClinVar dbSNP gnomAD v4
7g.117614728C>ACA2684619897CFTRc.3468+15C>A (n.3468+15C>A)
c.*3182+15C>A (n.*3182+15C>A)
c.3285+15C>A (n.3285+15C>A)
c.*1843+15C>A (n.*1843+15C>A)
c.3462+15C>A (n.3462+15C>A)
c.*3292+15C>A (n.*3292+15C>A)
c.3042+15C>A (n.3042+15C>A)
c.216+15C>A (n.216+15C>A)
c.1059+15C>A (n.1059+15C>A)
c.50+15C>A
c.1118+15C>A
c.2250+15C>A (n.2250+15C>A)
c.3378+15C>A (n.3378+15C>A)
c.293+15C>A
c.3558+15C>A (n.3558+15C>A)
c.3225+15C>A (n.3225+15C>A)
 gnomAD v4
7g.117614728C>GCA2579000306CFTRc.3468+15C>G (n.3468+15C>G)
c.*3182+15C>G (n.*3182+15C>G)
c.3285+15C>G (n.3285+15C>G)
c.*1843+15C>G (n.*1843+15C>G)
c.3462+15C>G (n.3462+15C>G)
c.*3292+15C>G (n.*3292+15C>G)
c.3042+15C>G (n.3042+15C>G)
c.216+15C>G (n.216+15C>G)
c.1059+15C>G (n.1059+15C>G)
c.50+15C>G
c.1118+15C>G
c.2250+15C>G (n.2250+15C>G)
c.3378+15C>G (n.3378+15C>G)
c.293+15C>G
c.3558+15C>G (n.3558+15C>G)
c.3225+15C>G (n.3225+15C>G)
7g.117614733delCA2579000307CFTRc.3468+20del (n.3468+20del)
c.*3182+20del (n.*3182+20del)
c.3285+20del (n.3285+20del)
c.*1843+20del (n.*1843+20del)
c.3462+20del (n.3462+20del)
c.*3292+20del (n.*3292+20del)
c.3042+20del (n.3042+20del)
c.216+20del (n.216+20del)
c.1059+20del (n.1059+20del)
c.50+20del
c.1118+20del
c.2250+20del (n.2250+20del)
c.3378+20del (n.3378+20del)
c.293+20del
c.3558+20del (n.3558+20del)
c.3225+20del (n.3225+20del)
7g.117614732_117614733delCA2684619898CFTRc.3468+19_3468+20del (n.3468+19_3468+20del)
c.*3182+19_*3182+20del (n.*3182+19_*3182+20del)
c.3285+19_3285+20del (n.3285+19_3285+20del)
c.*1843+19_*1843+20del (n.*1843+19_*1843+20del)
c.3462+19_3462+20del (n.3462+19_3462+20del)
c.*3292+19_*3292+20del (n.*3292+19_*3292+20del)
c.3042+19_3042+20del (n.3042+19_3042+20del)
c.216+19_216+20del (n.216+19_216+20del)
c.1059+19_1059+20del (n.1059+19_1059+20del)
c.50+19_50+20del
c.1118+19_1118+20del
c.2250+19_2250+20del (n.2250+19_2250+20del)
c.3378+19_3378+20del (n.3378+19_3378+20del)
c.293+19_293+20del
c.3558+19_3558+20del (n.3558+19_3558+20del)
c.3225+19_3225+20del (n.3225+19_3225+20del)
 gnomAD v4
7g.117614735A=CA1737392277CFTRc.3468+22A= (n.3468+22A=)
c.*3182+22A= (n.*3182+22A=)
c.3285+22A= (n.3285+22A=)
c.*1843+22A= (n.*1843+22A=)
c.3462+22A= (n.3462+22A=)
c.*3292+22A= (n.*3292+22A=)
c.3042+22A= (n.3042+22A=)
c.216+22A= (n.216+22A=)
c.1059+22A= (n.1059+22A=)
c.50+22A=
c.1118+22A=
c.2250+22A= (n.2250+22A=)
c.3378+22A= (n.3378+22A=)
c.293+22A=
c.3558+22A= (n.3558+22A=)
c.3225+22A= (n.3225+22A=)
7g.117614735A>GCA2684619899CFTRc.3468+22A>G (n.3468+22A>G)
c.*3182+22A>G (n.*3182+22A>G)
c.3285+22A>G (n.3285+22A>G)
c.*1843+22A>G (n.*1843+22A>G)
c.3462+22A>G (n.3462+22A>G)
c.*3292+22A>G (n.*3292+22A>G)
c.3042+22A>G (n.3042+22A>G)
c.216+22A>G (n.216+22A>G)
c.1059+22A>G (n.1059+22A>G)
c.50+22A>G
c.1118+22A>G
c.2250+22A>G (n.2250+22A>G)
c.3378+22A>G (n.3378+22A>G)
c.293+22A>G
c.3558+22A>G (n.3558+22A>G)
c.3225+22A>G (n.3225+22A>G)
 gnomAD v4
7g.117614735A>TCA577222851CFTRc.3468+22A>T (n.3468+22A>T)
c.*3182+22A>T (n.*3182+22A>T)
c.3285+22A>T (n.3285+22A>T)
c.*1843+22A>T (n.*1843+22A>T)
c.3462+22A>T (n.3462+22A>T)
c.*3292+22A>T (n.*3292+22A>T)
c.3042+22A>T (n.3042+22A>T)
c.216+22A>T (n.216+22A>T)
c.1059+22A>T (n.1059+22A>T)
c.50+22A>T
c.1118+22A>T
c.2250+22A>T (n.2250+22A>T)
c.3378+22A>T (n.3378+22A>T)
c.293+22A>T
c.3558+22A>T (n.3558+22A>T)
c.3225+22A>T (n.3225+22A>T)
 dbSNP gnomAD v2
7g.117614736C>ACA2579000308CFTRc.3468+23C>A (n.3468+23C>A)
c.*3182+23C>A (n.*3182+23C>A)
c.3285+23C>A (n.3285+23C>A)
c.*1843+23C>A (n.*1843+23C>A)
c.3462+23C>A (n.3462+23C>A)
c.*3292+23C>A (n.*3292+23C>A)
c.3042+23C>A (n.3042+23C>A)
c.216+23C>A (n.216+23C>A)
c.1059+23C>A (n.1059+23C>A)
c.50+23C>A
c.1118+23C>A
c.2250+23C>A (n.2250+23C>A)
c.3378+23C>A (n.3378+23C>A)
c.293+23C>A
c.3558+23C>A (n.3558+23C>A)
c.3225+23C>A (n.3225+23C>A)
 gnomAD v4
7g.117614739T>CCA2684619900CFTRc.3468+26T>C (n.3468+26T>C)
c.*3182+26T>C (n.*3182+26T>C)
c.3285+26T>C (n.3285+26T>C)
c.*1843+26T>C (n.*1843+26T>C)
c.3462+26T>C (n.3462+26T>C)
c.*3292+26T>C (n.*3292+26T>C)
c.3042+26T>C (n.3042+26T>C)
c.216+26T>C (n.216+26T>C)
c.1059+26T>C (n.1059+26T>C)
c.50+26T>C
c.1118+26T>C
c.2250+26T>C (n.2250+26T>C)
c.3378+26T>C (n.3378+26T>C)
c.293+26T>C
c.3558+26T>C (n.3558+26T>C)
c.3225+26T>C (n.3225+26T>C)
 gnomAD v4
7g.117614740T>ACA4451465CFTRc.3468+27T>A (n.3468+27T>A)
c.*3182+27T>A (n.*3182+27T>A)
c.3285+27T>A (n.3285+27T>A)
c.*1843+27T>A (n.*1843+27T>A)
c.3462+27T>A (n.3462+27T>A)
c.*3292+27T>A (n.*3292+27T>A)
c.3042+27T>A (n.3042+27T>A)
c.216+27T>A (n.216+27T>A)
c.1059+27T>A (n.1059+27T>A)
c.50+27T>A
c.1118+27T>A
c.2250+27T>A (n.2250+27T>A)
c.3378+27T>A (n.3378+27T>A)
c.293+27T>A
c.3558+27T>A (n.3558+27T>A)
c.3225+27T>A (n.3225+27T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614740T=CA1737392280CFTRc.3468+27T= (n.3468+27T=)
c.*3182+27T= (n.*3182+27T=)
c.3285+27T= (n.3285+27T=)
c.*1843+27T= (n.*1843+27T=)
c.3462+27T= (n.3462+27T=)
c.*3292+27T= (n.*3292+27T=)
c.3042+27T= (n.3042+27T=)
c.216+27T= (n.216+27T=)
c.1059+27T= (n.1059+27T=)
c.50+27T=
c.1118+27T=
c.2250+27T= (n.2250+27T=)
c.3378+27T= (n.3378+27T=)
c.293+27T=
c.3558+27T= (n.3558+27T=)
c.3225+27T= (n.3225+27T=)
7g.117614740_117614741delinsTACA1737392278CFTRc.3468+27_3468+28delinsTA (n.3468+27_3468+28delinsTA)
c.*3182+27_*3182+28delinsTA (n.*3182+27_*3182+28delinsTA)
c.3285+27_3285+28delinsTA (n.3285+27_3285+28delinsTA)
c.*1843+27_*1843+28delinsTA (n.*1843+27_*1843+28delinsTA)
c.3462+27_3462+28delinsTA (n.3462+27_3462+28delinsTA)
c.*3292+27_*3292+28delinsTA (n.*3292+27_*3292+28delinsTA)
c.3042+27_3042+28delinsTA (n.3042+27_3042+28delinsTA)
c.216+27_216+28delinsTA (n.216+27_216+28delinsTA)
c.1059+27_1059+28delinsTA (n.1059+27_1059+28delinsTA)
c.50+27_50+28delinsTA
c.1118+27_1118+28delinsTA
c.2250+27_2250+28delinsTA (n.2250+27_2250+28delinsTA)
c.3378+27_3378+28delinsTA (n.3378+27_3378+28delinsTA)
c.293+27_293+28delinsTA
c.3558+27_3558+28delinsTA (n.3558+27_3558+28delinsTA)
c.3225+27_3225+28delinsTA (n.3225+27_3225+28delinsTA)
7g.117614741delCA4451466CFTRc.3468+28del (n.3468+28del)
c.*3182+28del (n.*3182+28del)
c.3285+28del (n.3285+28del)
c.*1843+28del (n.*1843+28del)
c.3462+28del (n.3462+28del)
c.*3292+28del (n.*3292+28del)
c.3042+28del (n.3042+28del)
c.216+28del (n.216+28del)
c.1059+28del (n.1059+28del)
c.50+28del
c.1118+28del
c.2250+28del (n.2250+28del)
c.3378+28del (n.3378+28del)
c.293+28del
c.3558+28del (n.3558+28del)
c.3225+28del (n.3225+28del)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614741A=CA1737392283CFTRc.3468+28A= (n.3468+28A=)
c.*3182+28A= (n.*3182+28A=)
c.3285+28A= (n.3285+28A=)
c.*1843+28A= (n.*1843+28A=)
c.3462+28A= (n.3462+28A=)
c.*3292+28A= (n.*3292+28A=)
c.3042+28A= (n.3042+28A=)
c.216+28A= (n.216+28A=)
c.1059+28A= (n.1059+28A=)
c.50+28A=
c.1118+28A=
c.2250+28A= (n.2250+28A=)
c.3378+28A= (n.3378+28A=)
c.293+28A=
c.3558+28A= (n.3558+28A=)
c.3225+28A= (n.3225+28A=)
7g.117614741A>GCA1737392282CFTRc.3468+28A>G (n.3468+28A>G)
c.*3182+28A>G (n.*3182+28A>G)
c.3285+28A>G (n.3285+28A>G)
c.*1843+28A>G (n.*1843+28A>G)
c.3462+28A>G (n.3462+28A>G)
c.*3292+28A>G (n.*3292+28A>G)
c.3042+28A>G (n.3042+28A>G)
c.216+28A>G (n.216+28A>G)
c.1059+28A>G (n.1059+28A>G)
c.50+28A>G
c.1118+28A>G
c.2250+28A>G (n.2250+28A>G)
c.3378+28A>G (n.3378+28A>G)
c.293+28A>G
c.3558+28A>G (n.3558+28A>G)
c.3225+28A>G (n.3225+28A>G)
 dbSNP
7g.117614742T>CCA4451467CFTRc.3468+29T>C (n.3468+29T>C)
c.*3182+29T>C (n.*3182+29T>C)
c.3285+29T>C (n.3285+29T>C)
c.*1843+29T>C (n.*1843+29T>C)
c.3462+29T>C (n.3462+29T>C)
c.*3292+29T>C (n.*3292+29T>C)
c.3042+29T>C (n.3042+29T>C)
c.216+29T>C (n.216+29T>C)
c.1059+29T>C (n.1059+29T>C)
c.50+29T>C
c.1118+29T>C
c.2250+29T>C (n.2250+29T>C)
c.3378+29T>C (n.3378+29T>C)
c.293+29T>C
c.3558+29T>C (n.3558+29T>C)
c.3225+29T>C (n.3225+29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614742T=CA1737392284CFTRc.3468+29T= (n.3468+29T=)
c.*3182+29T= (n.*3182+29T=)
c.3285+29T= (n.3285+29T=)
c.*1843+29T= (n.*1843+29T=)
c.3462+29T= (n.3462+29T=)
c.*3292+29T= (n.*3292+29T=)
c.3042+29T= (n.3042+29T=)
c.216+29T= (n.216+29T=)
c.1059+29T= (n.1059+29T=)
c.50+29T=
c.1118+29T=
c.2250+29T= (n.2250+29T=)
c.3378+29T= (n.3378+29T=)
c.293+29T=
c.3558+29T= (n.3558+29T=)
c.3225+29T= (n.3225+29T=)
7g.117614743_117614744delinsGACA1737392286CFTRc.3468+30_3468+31delinsGA (n.3468+30_3468+31delinsGA)
c.*3182+30_*3182+31delinsGA (n.*3182+30_*3182+31delinsGA)
c.3285+30_3285+31delinsGA (n.3285+30_3285+31delinsGA)
c.*1843+30_*1843+31delinsGA (n.*1843+30_*1843+31delinsGA)
c.3462+30_3462+31delinsGA (n.3462+30_3462+31delinsGA)
c.*3292+30_*3292+31delinsGA (n.*3292+30_*3292+31delinsGA)
c.3042+30_3042+31delinsGA (n.3042+30_3042+31delinsGA)
c.216+30_216+31delinsGA (n.216+30_216+31delinsGA)
c.1059+30_1059+31delinsGA (n.1059+30_1059+31delinsGA)
c.50+30_50+31delinsGA
c.1118+30_1118+31delinsGA
c.2250+30_2250+31delinsGA (n.2250+30_2250+31delinsGA)
c.3378+30_3378+31delinsGA (n.3378+30_3378+31delinsGA)
c.293+30_293+31delinsGA
c.3558+30_3558+31delinsGA (n.3558+30_3558+31delinsGA)
c.3225+30_3225+31delinsGA (n.3225+30_3225+31delinsGA)
7g.117614750dupCA2684619901CFTRc.3468+37dup (n.3468+37dup)
c.*3182+37dup (n.*3182+37dup)
c.3285+37dup (n.3285+37dup)
c.*1843+37dup (n.*1843+37dup)
c.3462+37dup (n.3462+37dup)
c.*3292+37dup (n.*3292+37dup)
c.3042+37dup (n.3042+37dup)
c.216+37dup (n.216+37dup)
c.1059+37dup (n.1059+37dup)
c.50+37dup
c.1118+37dup
c.2250+37dup (n.2250+37dup)
c.3378+37dup (n.3378+37dup)
c.293+37dup
c.3558+37dup (n.3558+37dup)
c.3225+37dup (n.3225+37dup)
 gnomAD v4
7g.117614750delCA832101052CFTRc.3468+37del (n.3468+37del)
c.*3182+37del (n.*3182+37del)
c.3285+37del (n.3285+37del)
c.*1843+37del (n.*1843+37del)
c.3462+37del (n.3462+37del)
c.*3292+37del (n.*3292+37del)
c.3042+37del (n.3042+37del)
c.216+37del (n.216+37del)
c.1059+37del (n.1059+37del)
c.50+37del
c.1118+37del
c.2250+37del (n.2250+37del)
c.3378+37del (n.3378+37del)
c.293+37del
c.3558+37del (n.3558+37del)
c.3225+37del (n.3225+37del)
 dbSNP gnomAD v4
7g.117614746A=CA1737392288CFTRc.3468+33A= (n.3468+33A=)
c.*3182+33A= (n.*3182+33A=)
c.3285+33A= (n.3285+33A=)
c.*1843+33A= (n.*1843+33A=)
c.3462+33A= (n.3462+33A=)
c.*3292+33A= (n.*3292+33A=)
c.3042+33A= (n.3042+33A=)
c.216+33A= (n.216+33A=)
c.1059+33A= (n.1059+33A=)
c.50+33A=
c.1118+33A=
c.2250+33A= (n.2250+33A=)
c.3378+33A= (n.3378+33A=)
c.293+33A=
c.3558+33A= (n.3558+33A=)
c.3225+33A= (n.3225+33A=)
7g.117614746A>GCA1139660210CFTRc.3468+33A>G (n.3468+33A>G)
c.*3182+33A>G (n.*3182+33A>G)
c.3285+33A>G (n.3285+33A>G)
c.*1843+33A>G (n.*1843+33A>G)
c.3462+33A>G (n.3462+33A>G)
c.*3292+33A>G (n.*3292+33A>G)
c.3042+33A>G (n.3042+33A>G)
c.216+33A>G (n.216+33A>G)
c.1059+33A>G (n.1059+33A>G)
c.50+33A>G
c.1118+33A>G
c.2250+33A>G (n.2250+33A>G)
c.3378+33A>G (n.3378+33A>G)
c.293+33A>G
c.3558+33A>G (n.3558+33A>G)
c.3225+33A>G (n.3225+33A>G)
 ClinVar dbSNP gnomAD v4
7g.117614747A>TCA2579000310CFTRc.3468+34A>T (n.3468+34A>T)
c.*3182+34A>T (n.*3182+34A>T)
c.3285+34A>T (n.3285+34A>T)
c.*1843+34A>T (n.*1843+34A>T)
c.3462+34A>T (n.3462+34A>T)
c.*3292+34A>T (n.*3292+34A>T)
c.3042+34A>T (n.3042+34A>T)
c.216+34A>T (n.216+34A>T)
c.1059+34A>T (n.1059+34A>T)
c.50+34A>T
c.1118+34A>T
c.2250+34A>T (n.2250+34A>T)
c.3378+34A>T (n.3378+34A>T)
c.293+34A>T
c.3558+34A>T (n.3558+34A>T)
c.3225+34A>T (n.3225+34A>T)
7g.117614748A=CA1737392290CFTRc.3468+35A= (n.3468+35A=)
c.*3182+35A= (n.*3182+35A=)
c.3285+35A= (n.3285+35A=)
c.*1843+35A= (n.*1843+35A=)
c.3462+35A= (n.3462+35A=)
c.*3292+35A= (n.*3292+35A=)
c.3042+35A= (n.3042+35A=)
c.216+35A= (n.216+35A=)
c.1059+35A= (n.1059+35A=)
c.50+35A=
c.1118+35A=
c.2250+35A= (n.2250+35A=)
c.3378+35A= (n.3378+35A=)
c.293+35A=
c.3558+35A= (n.3558+35A=)
c.3225+35A= (n.3225+35A=)
7g.117614748A>GCA577222852CFTRc.3468+35A>G (n.3468+35A>G)
c.*3182+35A>G (n.*3182+35A>G)
c.3285+35A>G (n.3285+35A>G)
c.*1843+35A>G (n.*1843+35A>G)
c.3462+35A>G (n.3462+35A>G)
c.*3292+35A>G (n.*3292+35A>G)
c.3042+35A>G (n.3042+35A>G)
c.216+35A>G (n.216+35A>G)
c.1059+35A>G (n.1059+35A>G)
c.50+35A>G
c.1118+35A>G
c.2250+35A>G (n.2250+35A>G)
c.3378+35A>G (n.3378+35A>G)
c.293+35A>G
c.3558+35A>G (n.3558+35A>G)
c.3225+35A>G (n.3225+35A>G)
 dbSNP gnomAD v2 gnomAD v4
7g.117614749A>GCA2579000311CFTRc.3468+36A>G (n.3468+36A>G)
c.*3182+36A>G (n.*3182+36A>G)
c.3285+36A>G (n.3285+36A>G)
c.*1843+36A>G (n.*1843+36A>G)
c.3462+36A>G (n.3462+36A>G)
c.*3292+36A>G (n.*3292+36A>G)
c.3042+36A>G (n.3042+36A>G)
c.216+36A>G (n.216+36A>G)
c.1059+36A>G (n.1059+36A>G)
c.50+36A>G
c.1118+36A>G
c.2250+36A>G (n.2250+36A>G)
c.3378+36A>G (n.3378+36A>G)
c.293+36A>G
c.3558+36A>G (n.3558+36A>G)
c.3225+36A>G (n.3225+36A>G)
 gnomAD v4
7g.117614750A=CA1737392291CFTRc.3468+37A= (n.3468+37A=)
c.*3182+37A= (n.*3182+37A=)
c.3285+37A= (n.3285+37A=)
c.*1843+37A= (n.*1843+37A=)
c.3462+37A= (n.3462+37A=)
c.*3292+37A= (n.*3292+37A=)
c.3042+37A= (n.3042+37A=)
c.216+37A= (n.216+37A=)
c.1059+37A= (n.1059+37A=)
c.50+37A=
c.1118+37A=
c.2250+37A= (n.2250+37A=)
c.3378+37A= (n.3378+37A=)
c.293+37A=
c.3558+37A= (n.3558+37A=)
c.3225+37A= (n.3225+37A=)
7g.117614750A>CCA832101060CFTRc.3468+37A>C (n.3468+37A>C)
c.*3182+37A>C (n.*3182+37A>C)
c.3285+37A>C (n.3285+37A>C)
c.*1843+37A>C (n.*1843+37A>C)
c.3462+37A>C (n.3462+37A>C)
c.*3292+37A>C (n.*3292+37A>C)
c.3042+37A>C (n.3042+37A>C)
c.216+37A>C (n.216+37A>C)
c.1059+37A>C (n.1059+37A>C)
c.50+37A>C
c.1118+37A>C
c.2250+37A>C (n.2250+37A>C)
c.3378+37A>C (n.3378+37A>C)
c.293+37A>C
c.3558+37A>C (n.3558+37A>C)
c.3225+37A>C (n.3225+37A>C)
 dbSNP
7g.117614750A>TCA577222853CFTRc.3468+37A>T (n.3468+37A>T)
c.*3182+37A>T (n.*3182+37A>T)
c.3285+37A>T (n.3285+37A>T)
c.*1843+37A>T (n.*1843+37A>T)
c.3462+37A>T (n.3462+37A>T)
c.*3292+37A>T (n.*3292+37A>T)
c.3042+37A>T (n.3042+37A>T)
c.216+37A>T (n.216+37A>T)
c.1059+37A>T (n.1059+37A>T)
c.50+37A>T
c.1118+37A>T
c.2250+37A>T (n.2250+37A>T)
c.3378+37A>T (n.3378+37A>T)
c.293+37A>T
c.3558+37A>T (n.3558+37A>T)
c.3225+37A>T (n.3225+37A>T)
 dbSNP gnomAD v2 gnomAD v4
7g.117614751T>ACA2579000312CFTRc.3468+38T>A (n.3468+38T>A)
c.*3182+38T>A (n.*3182+38T>A)
c.3285+38T>A (n.3285+38T>A)
c.*1843+38T>A (n.*1843+38T>A)
c.3462+38T>A (n.3462+38T>A)
c.*3292+38T>A (n.*3292+38T>A)
c.3042+38T>A (n.3042+38T>A)
c.216+38T>A (n.216+38T>A)
c.1059+38T>A (n.1059+38T>A)
c.50+38T>A
c.1118+38T>A
c.2250+38T>A (n.2250+38T>A)
c.3378+38T>A (n.3378+38T>A)
c.293+38T>A
c.3558+38T>A (n.3558+38T>A)
c.3225+38T>A (n.3225+38T>A)
7g.117614753C>ACA2579000313CFTRc.3468+40C>A (n.3468+40C>A)
c.*3182+40C>A (n.*3182+40C>A)
c.3285+40C>A (n.3285+40C>A)
c.*1843+40C>A (n.*1843+40C>A)
c.3462+40C>A (n.3462+40C>A)
c.*3292+40C>A (n.*3292+40C>A)
c.3042+40C>A (n.3042+40C>A)
c.216+40C>A (n.216+40C>A)
c.1059+40C>A (n.1059+40C>A)
c.50+40C>A
c.1118+40C>A
c.2250+40C>A (n.2250+40C>A)
c.3378+40C>A (n.3378+40C>A)
c.293+40C>A
c.3558+40C>A (n.3558+40C>A)
c.3225+40C>A (n.3225+40C>A)
7g.117614754A=CA1737392292CFTRc.3468+41A= (n.3468+41A=)
c.*3182+41A= (n.*3182+41A=)
c.3285+41A= (n.3285+41A=)
c.*1843+41A= (n.*1843+41A=)
c.3462+41A= (n.3462+41A=)
c.*3292+41A= (n.*3292+41A=)
c.3042+41A= (n.3042+41A=)
c.216+41A= (n.216+41A=)
c.1059+41A= (n.1059+41A=)
c.50+41A=
c.1118+41A=
c.2250+41A= (n.2250+41A=)
c.3378+41A= (n.3378+41A=)
c.293+41A=
c.3558+41A= (n.3558+41A=)
c.3225+41A= (n.3225+41A=)
7g.117614754A>GCA4451468CFTRc.3468+41A>G (n.3468+41A>G)
c.*3182+41A>G (n.*3182+41A>G)
c.3285+41A>G (n.3285+41A>G)
c.*1843+41A>G (n.*1843+41A>G)
c.3462+41A>G (n.3462+41A>G)
c.*3292+41A>G (n.*3292+41A>G)
c.3042+41A>G (n.3042+41A>G)
c.216+41A>G (n.216+41A>G)
c.1059+41A>G (n.1059+41A>G)
c.50+41A>G
c.1118+41A>G
c.2250+41A>G (n.2250+41A>G)
c.3378+41A>G (n.3378+41A>G)
c.293+41A>G
c.3558+41A>G (n.3558+41A>G)
c.3225+41A>G (n.3225+41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614755G>ACA1737392294CFTRc.3468+42G>A (n.3468+42G>A)
c.*3182+42G>A (n.*3182+42G>A)
c.3285+42G>A (n.3285+42G>A)
c.*1843+42G>A (n.*1843+42G>A)
c.3462+42G>A (n.3462+42G>A)
c.*3292+42G>A (n.*3292+42G>A)
c.3042+42G>A (n.3042+42G>A)
c.216+42G>A (n.216+42G>A)
c.1059+42G>A (n.1059+42G>A)
c.50+42G>A
c.1118+42G>A
c.2250+42G>A (n.2250+42G>A)
c.3378+42G>A (n.3378+42G>A)
c.293+42G>A
c.3558+42G>A (n.3558+42G>A)
c.3225+42G>A (n.3225+42G>A)
 dbSNP gnomAD v4
7g.117614755G>CCA2777591395CFTRc.3468+42G>C (n.3468+42G>C)
c.*3182+42G>C (n.*3182+42G>C)
c.3285+42G>C (n.3285+42G>C)
c.*1843+42G>C (n.*1843+42G>C)
c.3462+42G>C (n.3462+42G>C)
c.*3292+42G>C (n.*3292+42G>C)
c.3042+42G>C (n.3042+42G>C)
c.216+42G>C (n.216+42G>C)
c.1059+42G>C (n.1059+42G>C)
c.50+42G>C
c.1118+42G>C
c.2250+42G>C (n.2250+42G>C)
c.3378+42G>C (n.3378+42G>C)
c.293+42G>C
c.3558+42G>C (n.3558+42G>C)
c.3225+42G>C (n.3225+42G>C)
7g.117614755G=CA1737392293CFTRc.3468+42G= (n.3468+42G=)
c.*3182+42G= (n.*3182+42G=)
c.3285+42G= (n.3285+42G=)
c.*1843+42G= (n.*1843+42G=)
c.3462+42G= (n.3462+42G=)
c.*3292+42G= (n.*3292+42G=)
c.3042+42G= (n.3042+42G=)
c.216+42G= (n.216+42G=)
c.1059+42G= (n.1059+42G=)
c.50+42G=
c.1118+42G=
c.2250+42G= (n.2250+42G=)
c.3378+42G= (n.3378+42G=)
c.293+42G=
c.3558+42G= (n.3558+42G=)
c.3225+42G= (n.3225+42G=)
7g.117614755G>TCA2684619902CFTRc.3468+42G>T (n.3468+42G>T)
c.*3182+42G>T (n.*3182+42G>T)
c.3285+42G>T (n.3285+42G>T)
c.*1843+42G>T (n.*1843+42G>T)
c.3462+42G>T (n.3462+42G>T)
c.*3292+42G>T (n.*3292+42G>T)
c.3042+42G>T (n.3042+42G>T)
c.216+42G>T (n.216+42G>T)
c.1059+42G>T (n.1059+42G>T)
c.50+42G>T
c.1118+42G>T
c.2250+42G>T (n.2250+42G>T)
c.3378+42G>T (n.3378+42G>T)
c.293+42G>T
c.3558+42G>T (n.3558+42G>T)
c.3225+42G>T (n.3225+42G>T)
 gnomAD v4

Number of alleles fetched