NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000492.3(CFTR):c.-448A>G
|
rs943663200
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000492.4(CFTR):c.1679+16T>C
|
rs397508262
|
0.00013
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.2620-97C>T
|
rs146376436
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000492.3(CFTR):c.-165G>A
|
rs145483167
|
0.00010
|
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met)
|
rs397508359
|
0.00010
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)
|
rs374403559
|
0.00009
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)
|
rs184724618
|
0.00008
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)
|
rs397508788
|
0.00006
|
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)
|
rs397508802
|
0.00006
|
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)
|
rs112162204
|
0.00006
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000492.4(CFTR):c.3874-4A>G
|
rs201381687
|
0.00005
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.3964-28G>A
|
rs397508651
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.1585-19T>C
|
rs778457306
|
0.00003
|
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)
|
rs762224063
|
0.00003
|
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln)
|
rs121909044
|
0.00003
|
NM_000492.4(CFTR):c.1907T>C (p.Leu636Pro)
|
rs374702882
|
0.00003
|
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn)
|
rs397508335
|
0.00003
|
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys)
|
rs397508381
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)
|
rs769931559
|
0.00003
|
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)
|
rs368427311
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.53+4A>T
|
rs372610364
|
0.00003
|
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys)
|
rs397508754
|
0.00003
|
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr)
|
rs748026786
|
0.00003
|
NM_000492.3(CFTR):c.-837T>C
|
rs1415964307
|
0.00002
|
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys)
|
rs138427145
|
0.00002
|
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)
|
rs374453187
|
0.00002
|
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
NM_000492.4(CFTR):c.2908+19G>C
|
rs370683572
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000492.4(CFTR):c.-602A>T
|
rs879620559
|
0.00001
|
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg)
|
rs768589673
|
0.00001
|
NM_000492.4(CFTR):c.1209+6A>G
|
rs749054857
|
0.00001
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1543T>C (p.Tyr515His)
|
rs778175128
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.1792A>G (p.Lys598Glu)
|
rs397508302
|
0.00001
|
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser)
|
rs1368033715
|
0.00001
|
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val)
|
rs200531709
|
0.00001
|
NM_000492.4(CFTR):c.2815C>G (p.His939Asp)
|
rs397508439
|
0.00001
|
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val)
|
rs397508448
|
0.00001
|
NM_000492.4(CFTR):c.290T>C (p.Val97Ala)
|
rs1235363099
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3139+3A>G
|
rs950336425
|
0.00001
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
NM_000492.4(CFTR):c.3410T>C (p.Met1137Thr)
|
rs397508555
|
0.00001
|
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)
|
rs397508565
|
0.00001
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp)
|
rs746103666
|
0.00001
|
NM_000492.4(CFTR):c.3709G>A (p.Gly1237Ser)
|
rs1554394076
|
0.00001
|
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg)
|
rs397508594
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
NM_000492.4(CFTR):c.3874-14C>G
|
rs184271150
|
0.00001
|
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)
|
rs397508646
|
0.00001
|
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe)
|
rs755028771
|
0.00001
|
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly)
|
rs970498675
|
0.00001
|
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)
|
rs397508708
|
0.00001
|
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)
|
rs750559671
|
0.00001
|
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr)
|
rs397508747
|
0.00001
|
NM_000492.4(CFTR):c.579+34A>G
|
rs148209839
|
0.00001
|
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys)
|
rs397508776
|
0.00001
|
NM_000492.4(CFTR):c.744-6T>G
|
rs878854022
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.869+25A>G
|
rs1554380840
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.913T>G (p.Phe305Val)
|
rs201885470
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
NM_000492.3(CFTR):c.-495C>T
|
rs397507565
|
|
NM_000492.3(CFTR):c.-600dup
|
rs747238661
|
|
NM_000492.3(CFTR):c.-674T>C
|
rs1554372953
|
|
NM_000492.3(CFTR):c.-893_-891del
|
rs780557040
|
|
NM_000492.4(CFTR):c.-34C>T
|
rs756314710
|
|
NM_000492.4(CFTR):c.-8GA[4]
|
rs1554373081
|
|
NM_000492.4(CFTR):c.1067G>C (p.Trp356Ser)
|
rs573808767
|
|
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)
|
rs76727851
|
|
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser)
|
rs397508166
|
|
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)
|
rs146463120
|
|
NM_000492.4(CFTR):c.1209+80G>A
|
rs948980243
|
|
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)
|
rs397508180
|
|
NM_000492.4(CFTR):c.1245_1247del (p.Asn418del)
|
rs1554382616
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1352G>T (p.Gly451Val)
|
rs1554382653
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro)
|
rs397508214
|
|
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)
|
rs397508221
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.1584+4A>T
|
rs953352440
|
|
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp)
|
rs1800095
|
|
NM_000492.4(CFTR):c.1585-9T>C
|
rs397508234
|
|
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn)
|
rs397508235
|
|
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val)
|
rs1387755887
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.1679+116G>T
|
rs207468451
|
|
NM_000492.4(CFTR):c.167A>G (p.Glu56Gly)
|
rs1554376387
|
|
NM_000492.4(CFTR):c.1680-2dup
|
rs1554389008
|
|
NM_000492.4(CFTR):c.1680-885T>C
|
rs1281580863
|
|
NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp)
|
rs1375786834
|
|
NM_000492.4(CFTR):c.16C>G (p.Leu6Val)
|
rs1554373095
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)
|
rs397508308
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)
|
rs397508338
|
|
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg)
|
rs397508340
|
|
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)
|
rs397508357
|
|
NM_000492.4(CFTR):c.2427AAG[1] (p.Arg811del)
|
rs1554389478
|
|
NM_000492.4(CFTR):c.244A>G (p.Met82Val)
|
rs1554376431
|
|
NM_000492.4(CFTR):c.2490+4_2490+6dup
|
rs1554389497
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
NM_000492.4(CFTR):c.2566_2567insTAC (p.Val855_His856insLeu)
|
rs774507425
|
|
NM_000492.4(CFTR):c.2619+3A>G
|
rs397508408
|
|
NM_000492.4(CFTR):c.2619G>A (p.Glu873=)
|
rs397508409
|
|
NM_000492.4(CFTR):c.2657+17C>T
|
rs368543375
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2719A>G (p.Ile907Val)
|
rs397508423
|
|
NM_000492.4(CFTR):c.274-3T>C
|
rs1554379763
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2908+3A>C
|
rs1554391091
|
|
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2909-4A>G
|
rs397508457
|
|
NM_000492.4(CFTR):c.2909-8_2909-7insTAAT
|
rs1554391448
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)
|
rs397508483
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser)
|
rs78194216
|
|
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro)
|
rs121909020
|
|
NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly)
|
rs1800114
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)
|
rs77958296
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn)
|
rs113993958
|
|
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)
|
rs397508541
|
|
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del)
|
rs1554392295
|
|
NM_000492.4(CFTR):c.3367+3A>G
|
rs1194763712
|
|
NM_000492.4(CFTR):c.3367+6A>G
|
rs397508545
|
|
NM_000492.4(CFTR):c.3460G>T (p.Asp1154Tyr)
|
rs397508568
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3787A>G (p.Thr1263Ala)
|
rs1554395363
|
|
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val)
|
rs1554395370
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys)
|
rs121909026
|
|
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala)
|
rs397508648
|
|
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe)
|
rs397508660
|
|
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu)
|
rs397508666
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn)
|
rs150683293
|
|
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His)
|
rs397508682
|
|
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu)
|
rs397508691
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del)
|
rs747078069
|
|
NM_000492.4(CFTR):c.505A>G (p.Ser169Gly)
|
rs1554380309
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)
|
rs397508748
|
|
NM_000492.4(CFTR):c.54-13C>G
|
rs397508749
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro)
|
rs766640075
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.744-33GATT[5]
|
rs1805171
|
|
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)
|
rs397508797
|
|
NM_000492.4(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn)
|
rs1554380796
|
|
NM_000492.4(CFTR):c.870-5dup
|
rs759762840
|
|
NM_000492.4(CFTR):c.895G>A (p.Ala299Thr)
|
rs1180803268
|
|
NM_000492.4(CFTR):c.926C>A (p.Ala309Asp)
|
rs397508818
|
|
NM_000492.4(CFTR):c.926C>T (p.Ala309Val)
|
rs397508818
|
|
NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
|
NM_000492.4(CFTR):c.940G>C (p.Gly314Arg)
|
rs397508819
|
|
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu)
|
rs397508822
|
|