NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.53+324A>G
|
rs78171410
|
0.00590
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000492.4(CFTR):c.53+8298C>G
|
rs35616800
|
0.00361
|
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.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000492.4(CFTR):c.*684A>G
|
rs146818281
|
0.00153
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000492.4(CFTR):c.3718-3630G>T
|
rs142677818
|
0.00117
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000492.4(CFTR):c.1210-11_1210-10insG
|
rs551227135
|
0.00072
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000492.4(CFTR):c.3717+5793G>T
|
rs567468206
|
0.00061
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000492.4(CFTR):c.*94C>T
|
rs144214399
|
0.00051
|
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_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.2620-583C>T
|
rs781023677
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
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.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)
|
rs142864834
|
0.00025
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)
|
rs201434579
|
0.00021
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
NM_000492.4(CFTR):c.3963+69A>G
|
rs540577876
|
0.00019
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)
|
rs150691494
|
0.00019
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000492.4(CFTR):c.2665C>T (p.Leu889Phe)
|
rs61738523
|
0.00015
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)
|
rs397508395
|
0.00013
|
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe)
|
rs1330281974
|
0.00013
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)
|
rs142432539
|
0.00011
|
NM_000492.4(CFTR):c.2620-97C>T
|
rs146376436
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr)
|
rs201016820
|
0.00011
|
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met)
|
rs397508359
|
0.00010
|
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val)
|
rs780187979
|
0.00010
|
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro)
|
rs565971160
|
0.00010
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)
|
rs151020603
|
0.00009
|
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr)
|
rs143980575
|
0.00009
|
NM_000492.4(CFTR):c.1584+4119C>T
|
rs983323581
|
0.00009
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
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.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met)
|
rs576710089
|
0.00008
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu)
|
rs78742051
|
0.00007
|
NM_000492.4(CFTR):c.1584+3292A>G
|
rs147176173
|
0.00006
|
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)
|
rs377731410
|
0.00006
|
NM_000492.4(CFTR):c.2145A>C (p.Gln715His)
|
rs141235765
|
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.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)
|
rs368393738
|
0.00006
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)
|
rs772774651
|
0.00006
|
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro)
|
rs150177304
|
0.00006
|
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)
|
rs397508720
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000492.4(CFTR):c.662C>T (p.Ala221Val)
|
rs752432390
|
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.974A>G (p.Tyr325Cys)
|
rs373998255
|
0.00006
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg)
|
rs375325315
|
0.00005
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)
|
rs148604667
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_000492.4(CFTR):c.3521A>C (p.Lys1174Thr)
|
rs137875514
|
0.00005
|
NM_000492.4(CFTR):c.3874-4A>G
|
rs201381687
|
0.00005
|
NM_000492.4(CFTR):c.104C>T (p.Ser35Leu)
|
rs1372627069
|
0.00004
|
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg)
|
rs200899224
|
0.00004
|
NM_000492.4(CFTR):c.1585-2061G>C
|
rs187146610
|
0.00004
|
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe)
|
rs772223589
|
0.00004
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000492.4(CFTR):c.1807G>A (p.Val603Ile)
|
rs143036685
|
0.00004
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)
|
rs141880790
|
0.00004
|
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln)
|
rs369040061
|
0.00004
|
NM_000492.4(CFTR):c.2490+14G>T
|
rs573016418
|
0.00004
|
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)
|
rs397508397
|
0.00004
|
NM_000492.4(CFTR):c.26C>T (p.Ala9Val)
|
rs949472192
|
0.00004
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
NM_000492.4(CFTR):c.355A>G (p.Ile119Val)
|
rs193922518
|
0.00004
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
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.4096A>T (p.Ile1366Phe)
|
rs770345073
|
0.00004
|
NM_000492.4(CFTR):c.454A>T (p.Met152Leu)
|
rs397508721
|
0.00004
|
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)
|
rs200885306
|
0.00004
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
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.*124_*125insC
|
rs1554397824
|
0.00003
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.1199T>C (p.Phe400Ser)
|
rs1325574209
|
0.00003
|
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu)
|
rs748155731
|
0.00003
|
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser)
|
rs777850419
|
0.00003
|
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)
|
rs397508185
|
0.00003
|
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser)
|
rs139054556
|
0.00003
|
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)
|
rs397508210
|
0.00003
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
0.00003
|
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)
|
rs773018372
|
0.00003
|
NM_000492.4(CFTR):c.1907T>C (p.Leu636Pro)
|
rs374702882
|
0.00003
|
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn)
|
rs780526529
|
0.00003
|
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn)
|
rs397508335
|
0.00003
|
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)
|
rs145449046
|
0.00003
|
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser)
|
rs138069616
|
0.00003
|
NM_000492.4(CFTR):c.246G>A (p.Met82Ile)
|
rs1159096947
|
0.00003
|
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys)
|
rs397508381
|
0.00003
|
NM_000492.4(CFTR):c.2495G>A (p.Cys832Tyr)
|
rs565589205
|
0.00003
|
NM_000492.4(CFTR):c.250T>C (p.Tyr84His)
|
rs745756794
|
0.00003
|
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser)
|
rs562851847
|
0.00003
|
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe)
|
rs149662778
|
0.00003
|
NM_000492.4(CFTR):c.2659A>C (p.Thr887Pro)
|
rs770359007
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
|
rs193922511
|
0.00003
|
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu)
|
rs397508443
|
0.00003
|
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys)
|
rs779569793
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)
|
rs373561883
|
0.00003
|
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met)
|
rs143120209
|
0.00003
|
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu)
|
rs397508567
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln)
|
rs763401376
|
0.00003
|
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)
|
rs377295859
|
0.00003
|
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val)
|
rs773852510
|
0.00003
|
NM_000492.4(CFTR):c.377G>T (p.Gly126Val)
|
rs397508609
|
0.00003
|
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)
|
rs769931559
|
0.00003
|
NM_000492.4(CFTR):c.3933T>G (p.Ser1311Arg)
|
rs962313398
|
0.00003
|
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe)
|
rs145545286
|
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.511G>A (p.Val171Ile)
|
rs745468219
|
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_000492.4(CFTR):c.634A>G (p.Met212Val)
|
rs540269075
|
0.00003
|
NM_000492.4(CFTR):c.674G>A (p.Cys225Tyr)
|
rs866473559
|
0.00003
|
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp)
|
rs773509355
|
0.00003
|
NM_000492.4(CFTR):c.1186A>T (p.Asn396Tyr)
|
rs753143757
|
0.00002
|
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)
|
rs370586917
|
0.00002
|
NM_000492.4(CFTR):c.1405A>G (p.Met469Val)
|
rs397508203
|
0.00002
|
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys)
|
rs138427145
|
0.00002
|
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)
|
rs374453187
|
0.00002
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys)
|
rs755986694
|
0.00002
|
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)
|
rs201888075
|
0.00002
|
NM_000492.4(CFTR):c.2490+5G>T
|
rs764466147
|
0.00002
|
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala)
|
rs761531223
|
0.00002
|
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
NM_000492.4(CFTR):c.2713G>C (p.Val905Leu)
|
rs886186687
|
0.00002
|
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser)
|
rs185397588
|
0.00002
|
NM_000492.4(CFTR):c.2882T>C (p.Met961Thr)
|
rs769377991
|
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.3503A>G (p.Asp1168Gly)
|
rs150326506
|
0.00002
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp)
|
rs751474685
|
0.00002
|
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu)
|
rs752834717
|
0.00002
|
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr)
|
rs115762793
|
0.00002
|
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser)
|
rs747324955
|
0.00002
|
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser)
|
rs201686600
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000492.4(CFTR):c.62G>T (p.Arg21Ile)
|
rs777520137
|
0.00002
|
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)
|
rs759726535
|
0.00002
|
NM_000492.4(CFTR):c.838G>T (p.Ala280Ser)
|
rs749377803
|
0.00002
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
NM_000492.4(CFTR):c.917A>G (p.Asn306Ser)
|
rs746375310
|
0.00002
|
NM_000492.4(CFTR):c.964G>A (p.Val322Met)
|
rs1800085
|
0.00002
|
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)
|
rs193922533
|
0.00002
|
NM_000492.4(CFTR):c.1003A>G (p.Lys335Glu)
|
rs1431852129
|
0.00001
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg)
|
rs768589673
|
0.00001
|
NM_000492.4(CFTR):c.1137A>C (p.Glu379Asp)
|
rs774308232
|
0.00001
|
NM_000492.4(CFTR):c.117A>C (p.Gln39His)
|
rs764522674
|
0.00001
|
NM_000492.4(CFTR):c.1209+6A>G
|
rs749054857
|
0.00001
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)
|
rs766063304
|
0.00001
|
NM_000492.4(CFTR):c.1258A>G (p.Lys420Glu)
|
rs377629509
|
0.00001
|
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp)
|
rs765791986
|
0.00001
|
NM_000492.4(CFTR):c.1315C>A (p.Pro439Thr)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1340A>G (p.Lys447Arg)
|
rs746941790
|
0.00001
|
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr)
|
rs748642635
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_000492.4(CFTR):c.142A>C (p.Asn48His)
|
rs1248202161
|
0.00001
|
NM_000492.4(CFTR):c.1430C>A (p.Pro477His)
|
rs886044297
|
0.00001
|
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)
|
rs754152822
|
0.00001
|
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
NM_000492.4(CFTR):c.1504A>G (p.Ile502Val)
|
rs768243039
|
0.00001
|
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)
|
rs397508222
|
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.1544A>G (p.Tyr515Cys)
|
rs1554384431
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.1732C>G (p.Leu578Val)
|
rs979121392
|
0.00001
|
NM_000492.4(CFTR):c.1792A>G (p.Lys598Glu)
|
rs397508302
|
0.00001
|
NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser)
|
rs754945422
|
0.00001
|
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe)
|
rs1048183757
|
0.00001
|
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)
|
rs201978662
|
0.00001
|
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser)
|
rs1368033715
|
0.00001
|
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met)
|
rs1485998437
|
0.00001
|
NM_000492.4(CFTR):c.2068A>G (p.Thr690Ala)
|
rs780579840
|
0.00001
|
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val)
|
rs745538406
|
0.00001
|
NM_000492.4(CFTR):c.2120C>G (p.Ser707Cys)
|
rs1395267446
|
0.00001
|
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)
|
rs397508342
|
0.00001
|
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val)
|
rs200531709
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2219C>T (p.Pro740Leu)
|
rs150772285
|
0.00001
|
NM_000492.4(CFTR):c.2251C>T (p.Arg751Cys)
|
rs772661780
|
0.00001
|
NM_000492.4(CFTR):c.2252G>A (p.Arg751His)
|
rs397508357
|
0.00001
|
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser)
|
rs766541549
|
0.00001
|
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln)
|
rs1417904716
|
0.00001
|
NM_000492.4(CFTR):c.2305G>A (p.Val769Ile)
|
rs1379518832
|
0.00001
|
NM_000492.4(CFTR):c.2323C>T (p.His775Tyr)
|
rs748045283
|
0.00001
|
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu)
|
rs397508365
|
0.00001
|
NM_000492.4(CFTR):c.232T>C (p.Phe78Leu)
|
rs1181846000
|
0.00001
|
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro)
|
rs1291965190
|
0.00001
|
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe)
|
rs1314080734
|
0.00001
|
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys)
|
rs1792049376
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser)
|
rs778688276
|
0.00001
|
NM_000492.4(CFTR):c.2482G>A (p.Asp828Asn)
|
rs759726447
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)
|
rs761043298
|
0.00001
|
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)
|
rs758128209
|
0.00001
|
NM_000492.4(CFTR):c.256A>G (p.Ile86Val)
|
rs749432776
|
0.00001
|
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)
|
rs1310658028
|
0.00001
|
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val)
|
rs1472821278
|
0.00001
|
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)
|
rs397508418
|
0.00001
|
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)
|
rs766181463
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.2708A>G (p.Tyr903Cys)
|
rs147297080
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu)
|
rs770502501
|
0.00001
|
NM_000492.4(CFTR):c.2778G>T (p.Leu926Phe)
|
rs767910302
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser)
|
rs750655055
|
0.00001
|
NM_000492.4(CFTR):c.2815C>G (p.His939Asp)
|
rs397508439
|
0.00001
|
NM_000492.4(CFTR):c.281C>T (p.Thr94Ile)
|
rs767204327
|
0.00001
|
NM_000492.4(CFTR):c.2831T>C (p.Val944Ala)
|
rs141747560
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000492.4(CFTR):c.2860C>T (p.His954Tyr)
|
rs779528411
|
0.00001
|
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val)
|
rs397508448
|
0.00001
|
NM_000492.4(CFTR):c.2908+4C>A
|
rs372266030
|
0.00001
|
NM_000492.4(CFTR):c.290T>C (p.Val97Ala)
|
rs1235363099
|
0.00001
|
NM_000492.4(CFTR):c.2929T>G (p.Ser977Ala)
|
rs137975784
|
0.00001
|
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met)
|
rs748430234
|
0.00001
|
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met)
|
rs370181570
|
0.00001
|
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys)
|
rs397508469
|
0.00001
|
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly)
|
rs770241677
|
0.00001
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly)
|
rs397508549
|
0.00001
|
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val)
|
rs755472768
|
0.00001
|
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val)
|
rs1562916044
|
0.00001
|
NM_000492.4(CFTR):c.3410T>C (p.Met1137Thr)
|
rs397508555
|
0.00001
|
NM_000492.4(CFTR):c.3418A>G (p.Met1140Val)
|
rs774415786
|
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.3488T>G (p.Val1163Gly)
|
rs776696255
|
0.00001
|
NM_000492.4(CFTR):c.3511A>G (p.Thr1171Ala)
|
rs778797502
|
0.00001
|
NM_000492.4(CFTR):c.3562T>C (p.Ser1188Pro)
|
rs762167681
|
0.00001
|
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val)
|
rs75647395
|
0.00001
|
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp)
|
rs746103666
|
0.00001
|
NM_000492.4(CFTR):c.3642T>A (p.Asp1214Glu)
|
rs1584830230
|
0.00001
|
NM_000492.4(CFTR):c.3667G>A (p.Gly1223Arg)
|
rs1320914611
|
0.00001
|
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val)
|
rs770358073
|
0.00001
|
NM_000492.4(CFTR):c.3682G>C (p.Glu1228Gln)
|
rs759116351
|
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.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe)
|
rs768411899
|
0.00001
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg)
|
rs766370233
|
0.00001
|
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr)
|
rs397508619
|
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.3893G>T (p.Gly1298Val)
|
rs193922522
|
0.00001
|
NM_000492.4(CFTR):c.3895A>G (p.Thr1299Ala)
|
rs750604866
|
0.00001
|
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu)
|
rs193922732
|
0.00001
|
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)
|
rs397508646
|
0.00001
|
NM_000492.4(CFTR):c.3963+6G>T
|
rs1793110791
|
0.00001
|
NM_000492.4(CFTR):c.3988C>G (p.Gln1330Glu)
|
rs375661578
|
0.00001
|
NM_000492.4(CFTR):c.4033G>A (p.Val1345Ile)
|
rs1371379517
|
0.00001
|
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln)
|
rs1313341594
|
0.00001
|
NM_000492.4(CFTR):c.403A>T (p.Thr135Ser)
|
rs771512600
|
0.00001
|
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr)
|
rs955306189
|
0.00001
|
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe)
|
rs755028771
|
0.00001
|
NM_000492.4(CFTR):c.4087A>C (p.Lys1363Gln)
|
rs1060503166
|
0.00001
|
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)
|
rs397508673
|
0.00001
|
NM_000492.4(CFTR):c.4109A>G (p.Asp1370Gly)
|
rs766124395
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu)
|
rs397508677
|
0.00001
|
NM_000492.4(CFTR):c.413T>C (p.Leu138Pro)
|
rs1800078
|
0.00001
|
NM_000492.4(CFTR):c.4142A>G (p.Tyr1381Cys)
|
rs776388660
|
0.00001
|
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=)
|
rs397508683
|
0.00001
|
NM_000492.4(CFTR):c.4159A>G (p.Thr1387Ala)
|
rs1455404428
|
0.00001
|
NM_000492.4(CFTR):c.416A>C (p.His139Pro)
|
rs76371115
|
0.00001
|
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro)
|
rs375552160
|
0.00001
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly)
|
rs970498675
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.4230C>G (p.Cys1410Trp)
|
rs1165501753
|
0.00001
|
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu)
|
rs142092183
|
0.00001
|
NM_000492.4(CFTR):c.436C>T (p.His146Tyr)
|
rs1798856136
|
0.00001
|
NM_000492.4(CFTR):c.441C>G (p.His147Gln)
|
rs759310470
|
0.00001
|
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)
|
rs149197463
|
0.00001
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.489+5T>C
|
rs1453085631
|
0.00001
|
NM_000492.4(CFTR):c.49T>C (p.Phe17Leu)
|
rs779256353
|
0.00001
|
NM_000492.4(CFTR):c.514C>A (p.Leu172Ile)
|
rs769606990
|
0.00001
|
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe)
|
rs1267579802
|
0.00001
|
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr)
|
rs397508747
|
0.00001
|
NM_000492.4(CFTR):c.538C>G (p.Leu180Val)
|
rs374163420
|
0.00001
|
NM_000492.4(CFTR):c.579+34A>G
|
rs148209839
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser)
|
rs397508772
|
0.00001
|
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys)
|
rs397508776
|
0.00001
|
NM_000492.4(CFTR):c.70T>G (p.Leu24Val)
|
rs1056986309
|
0.00001
|
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)
|
rs758012554
|
0.00001
|
NM_000492.4(CFTR):c.744-6T>G
|
rs878854022
|
0.00001
|
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile)
|
rs377514639
|
0.00001
|
NM_000492.4(CFTR):c.841A>G (p.Met281Val)
|
rs755215339
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.869+14A>G
|
rs1554380834
|
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.8G>T (p.Arg3Met)
|
rs1052894635
|
0.00001
|
NM_000492.4(CFTR):c.913T>G (p.Phe305Val)
|
rs201885470
|
0.00001
|
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)
|
rs148013312
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser)
|
rs760319837
|
0.00001
|
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg)
|
rs141115171
|
0.00001
|
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn)
|
rs397508825
|
0.00001
|
NC_000007.13:g.(?_117118376)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117199476)_(117280016_?)dup
|
|
|
NC_000007.13:g.(?_117199498)_(117199729_?)dup
|
|
|
NC_000007.13:g.(?_117234964)_(117267864_?)dup
|
|
|
NC_000007.13:g.(?_117267556)_(117267869_?)dup
|
|
|
NC_000007.13:g.(?_117267556)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117267566)_(117267869_?)dup
|
|
|
NC_000007.13:g.(?_117280015)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117292849)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117304722)_(117307162_?)dup
|
|
|
NM_000492.3(CFTR):c.3376_3381delGAAGGA
|
rs1554392764
|
|
NM_000492.4(CFTR):c.*842del
|
rs886061953
|
|
NM_000492.4(CFTR):c.1009T>C (p.Phe337Leu)
|
rs771716655
|
|
NM_000492.4(CFTR):c.1011C>G (p.Phe337Leu)
|
rs1799029121
|
|
NM_000492.4(CFTR):c.1016C>A (p.Thr339Asn)
|
|
|
NM_000492.4(CFTR):c.1016C>G (p.Thr339Ser)
|
|
|
NM_000492.4(CFTR):c.1018A>G (p.Ile340Val)
|
|
|
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn)
|
rs1554381352
|
|
NM_000492.4(CFTR):c.1028G>T (p.Cys343Phe)
|
|
|
NM_000492.4(CFTR):c.1039C>A (p.Arg347Ser)
|
|
|
NM_000492.4(CFTR):c.1043T>C (p.Met348Thr)
|
|
|
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)
|
rs1562892293
|
|
NM_000492.4(CFTR):c.1051A>G (p.Thr351Ala)
|
rs1799031080
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1058A>G (p.Gln353Arg)
|
|
|
NM_000492.4(CFTR):c.1060T>C (p.Phe354Leu)
|
|
|
NM_000492.4(CFTR):c.1064C>T (p.Pro355Leu)
|
|
|
NM_000492.4(CFTR):c.1067G>C (p.Trp356Ser)
|
rs573808767
|
|
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
|
|
|
NM_000492.4(CFTR):c.1077A>G (p.Gln359=)
|
rs761324191
|
|
NM_000492.4(CFTR):c.1079C>T (p.Thr360Ile)
|
|
|
NM_000492.4(CFTR):c.1084T>C (p.Tyr362His)
|
|
|
NM_000492.4(CFTR):c.1084T>G (p.Tyr362Asp)
|
|
|
NM_000492.4(CFTR):c.1085A>G (p.Tyr362Cys)
|
|
|
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
|
|
|
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)
|
rs76727851
|
|
NM_000492.4(CFTR):c.1099G>A (p.Ala367Thr)
|
|
|
NM_000492.4(CFTR):c.109A>C (p.Ile37Leu)
|
|
|
NM_000492.4(CFTR):c.109A>G (p.Ile37Val)
|
rs759721412
|
|
NM_000492.4(CFTR):c.110T>C (p.Ile37Thr)
|
|
|
NM_000492.4(CFTR):c.1113A>G (p.Ile371Met)
|
|
|
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg)
|
rs1799033866
|
|
NM_000492.4(CFTR):c.1115A>T (p.Gln372Leu)
|
|
|
NM_000492.4(CFTR):c.1116+6G>A
|
|
|
NM_000492.4(CFTR):c.1117-220_1117-4del
|
rs2115881246
|
|
NM_000492.4(CFTR):c.1117-4A>G
|
rs1799060630
|
|
NM_000492.4(CFTR):c.1117-5A>G
|
rs397508161
|
|
NM_000492.4(CFTR):c.1117G>T (p.Asp373Tyr)
|
|
|
NM_000492.4(CFTR):c.1118A>T (p.Asp373Val)
|
|
|
NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
|
|
|
NM_000492.4(CFTR):c.1135G>A (p.Glu379Lys)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1136A>G (p.Glu379Gly)
|
|
|
NM_000492.4(CFTR):c.113A>G (p.Tyr38Cys)
|
|
|
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
|
|
|
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser)
|
rs397508166
|
|
NM_000492.4(CFTR):c.1150G>A (p.Glu384Lys)
|
|
|
NM_000492.4(CFTR):c.1153T>A (p.Tyr385Asn)
|
|
|
NM_000492.4(CFTR):c.1153T>C (p.Tyr385His)
|
rs1799062001
|
|
NM_000492.4(CFTR):c.1154A>G (p.Tyr385Cys)
|
rs1799062053
|
|
NM_000492.4(CFTR):c.1161A>C (p.Leu387Phe)
|
|
|
NM_000492.4(CFTR):c.1165A>T (p.Thr389Ser)
|
|
|
NM_000492.4(CFTR):c.1166C>T (p.Thr389Ile)
|
|
|
NM_000492.4(CFTR):c.116A>C (p.Gln39Pro)
|
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1177G>A (p.Val393Met)
|
|
|
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu)
|
rs1562892874
|
|
NM_000492.4(CFTR):c.1178T>G (p.Val393Gly)
|
rs1799062903
|
|
NM_000492.4(CFTR):c.117A>T (p.Gln39His)
|
rs764522674
|
|
NM_000492.4(CFTR):c.1186A>G (p.Asn396Asp)
|
rs753143757
|
|
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)
|
rs1396443734
|
|
NM_000492.4(CFTR):c.1189G>C (p.Val397Leu)
|
rs1225700054
|
|
NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys)
|
|
|
NM_000492.4(CFTR):c.1193C>T (p.Thr398Ile)
|
|
|
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)
|
rs146463120
|
|
NM_000492.4(CFTR):c.11C>T (p.Ser4Leu)
|
|
|
NM_000492.4(CFTR):c.1201T>C (p.Trp401Arg)
|
|
|
NM_000492.4(CFTR):c.1209+18A>C
|
rs193922499
|
|
NM_000492.4(CFTR):c.1209+568A>G
|
|
|
NM_000492.4(CFTR):c.1209+80G>A
|
rs948980243
|
|
NM_000492.4(CFTR):c.1210-11_1210-10insGTG
|
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTG
|
rs4148705
|
|
NM_000492.4(CFTR):c.1210-13_1210-11del
|
rs2115902247
|
|
NM_000492.4(CFTR):c.1210-13_1210-8del
|
rs1399483116
|
|
NM_000492.4(CFTR):c.1210-5A>G
|
|
|
NM_000492.4(CFTR):c.1210-6T>A
|
rs763339686
|
|
NM_000492.4(CFTR):c.1210-6del
|
rs1805177
|
|
NM_000492.4(CFTR):c.1210G>A (p.Gly404Arg)
|
|
|
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val)
|
rs1324302547
|
|
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu)
|
rs559197407
|
|
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)
|
rs397508180
|
|
NM_000492.4(CFTR):c.122C>G (p.Pro41Arg)
|
|
|
NM_000492.4(CFTR):c.1234G>T (p.Ala412Ser)
|
|
|
NM_000492.4(CFTR):c.1240C>A (p.Gln414Lys)
|
|
|
NM_000492.4(CFTR):c.1243A>G (p.Asn415Asp)
|
|
|
NM_000492.4(CFTR):c.1245_1247del (p.Asn418del)
|
rs1554382616
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
NM_000492.4(CFTR):c.1255A>G (p.Arg419Gly)
|
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000492.4(CFTR):c.1269T>A (p.Asn423Lys)
|
rs376039579
|
|
NM_000492.4(CFTR):c.1277A>G (p.Asp426Gly)
|
|
|
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)
|
rs2896225
|
|
NM_000492.4(CFTR):c.1279A>C (p.Ser427Arg)
|
rs1584793492
|
|
NM_000492.4(CFTR):c.1282C>A (p.Leu428Ile)
|
|
|
NM_000492.4(CFTR):c.1282C>G (p.Leu428Val)
|
|
|
NM_000492.4(CFTR):c.1283T>A (p.Leu428His)
|
rs2115903258
|
|
NM_000492.4(CFTR):c.1287C>A (p.Phe429Leu)
|
rs763577850
|
|
NM_000492.4(CFTR):c.1291A>C (p.Ser431Arg)
|
|
|
NM_000492.4(CFTR):c.1295A>G (p.Asn432Ser)
|
|
|
NM_000492.4(CFTR):c.1299C>A (p.Phe433Leu)
|
rs11531593
|
|
NM_000492.4(CFTR):c.1303C>G (p.Leu435Val)
|
|
|
NM_000492.4(CFTR):c.1304T>C (p.Leu435Pro)
|
|
|
NM_000492.4(CFTR):c.1309G>T (p.Gly437Cys)
|
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
NM_000492.4(CFTR):c.1317T>G (p.Pro439=)
|
rs1562895052
|
|
NM_000492.4(CFTR):c.1318G>C (p.Val440Leu)
|
rs1799213656
|
|
NM_000492.4(CFTR):c.131A>T (p.Asp44Val)
|
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.1328A>T (p.Asp443Val)
|
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met)
|
rs1799214404
|
|
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val)
|
rs1584793570
|
|
NM_000492.4(CFTR):c.1346A>G (p.Glu449Gly)
|
|
|
NM_000492.4(CFTR):c.1347A>T (p.Glu449Asp)
|
|
|
NM_000492.4(CFTR):c.1348A>G (p.Arg450Gly)
|
|
|
NM_000492.4(CFTR):c.1349G>T (p.Arg450Ile)
|
|
|
NM_000492.4(CFTR):c.1352G>T (p.Gly451Val)
|
rs1554382653
|
|
NM_000492.4(CFTR):c.1355A>C (p.Gln452Pro)
|
rs397508193
|
|
NM_000492.4(CFTR):c.1360_1381delinsATAGAAA
|
rs1554382656
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
NM_000492.4(CFTR):c.136G>A (p.Ala46Thr)
|
rs1584774381
|
|
NM_000492.4(CFTR):c.1370C>T (p.Ala457Val)
|
|
|
NM_000492.4(CFTR):c.1376C>T (p.Ser459Phe)
|
|
|
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr)
|
rs1799216405
|
|
NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp)
|
rs1163866901
|
|
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
|
|
|
NM_000492.4(CFTR):c.1392+1498G>A
|
|
|
NM_000492.4(CFTR):c.1392G>A (p.Lys464=)
|
|
|
NM_000492.4(CFTR):c.1393-10T>C
|
rs1799416100
|
|
NM_000492.4(CFTR):c.1393-2042A>G
|
|
|
NM_000492.4(CFTR):c.1393-3C>A
|
|
|
NM_000492.4(CFTR):c.1394C>T (p.Thr465Ile)
|
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1405A>T (p.Met469Leu)
|
|
|
NM_000492.4(CFTR):c.1409T>A (p.Val470Glu)
|
rs1261167416
|
|
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
|
|
|
NM_000492.4(CFTR):c.1414A>G (p.Met472Val)
|
|
|
NM_000492.4(CFTR):c.1417G>A (p.Gly473Arg)
|
rs1799417518
|
|
NM_000492.4(CFTR):c.1420G>C (p.Glu474Gln)
|
|
|
NM_000492.4(CFTR):c.1423C>G (p.Leu475Val)
|
|
|
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu)
|
rs886044297
|
|
NM_000492.4(CFTR):c.1433C>T (p.Ser478Leu)
|
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1439G>T (p.Gly480Val)
|
|
|
NM_000492.4(CFTR):c.1441A>G (p.Lys481Glu)
|
|
|
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val)
|
rs1799418782
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
NM_000492.4(CFTR):c.1451A>G (p.His484Arg)
|
rs1427892651
|
|
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro)
|
rs397508214
|
|
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
|
|
|
NM_000492.4(CFTR):c.1480T>G (p.Phe494Val)
|
|
|
NM_000492.4(CFTR):c.1484C>A (p.Ser495Tyr)
|
|
|
NM_000492.4(CFTR):c.1484C>G (p.Ser495Cys)
|
|
|
NM_000492.4(CFTR):c.1484C>T (p.Ser495Phe)
|
|
|
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)
|
rs1554384382
|
|
NM_000492.4(CFTR):c.1490T>G (p.Ile497Ser)
|
rs1799421098
|
|
NM_000492.4(CFTR):c.1492A>G (p.Met498Val)
|
rs1562898400
|
|
NM_000492.4(CFTR):c.1493T>C (p.Met498Thr)
|
|
|
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1496C>T (p.Pro499Leu)
|
rs1584798328
|
|
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)
|
rs397508221
|
|
NM_000492.4(CFTR):c.1507A>G (p.Lys503Glu)
|
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1528G>A (p.Val510Ile)
|
|
|
NM_000492.4(CFTR):c.1528G>T (p.Val510Phe)
|
rs752955846
|
|
NM_000492.4(CFTR):c.1535A>G (p.Tyr512Cys)
|
rs1048256995
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1541A>C (p.Glu514Ala)
|
|
|
NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)
|
|
|
NM_000492.4(CFTR):c.1542A>C (p.Glu514Asp)
|
|
|
NM_000492.4(CFTR):c.1543T>G (p.Tyr515Asp)
|
|
|
NM_000492.4(CFTR):c.1547G>T (p.Arg516Ile)
|
|
|
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
|
|
|
NM_000492.4(CFTR):c.1557C>G (p.Ser519Arg)
|
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.155A>T (p.Lys52Ile)
|
|
|
NM_000492.4(CFTR):c.1561A>C (p.Ile521Leu)
|
|
|
NM_000492.4(CFTR):c.1563C>G (p.Ile521Met)
|
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.1577T>C (p.Leu526Pro)
|
|
|
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
|
|
|
NM_000492.4(CFTR):c.1584+10206A>G
|
|
|
NM_000492.4(CFTR):c.1584+12309T>C
|
|
|
NM_000492.4(CFTR):c.1584+4A>T
|
rs953352440
|
|
NM_000492.4(CFTR):c.1584+5G>C
|
|
|
NM_000492.4(CFTR):c.1584+6457A>C
|
|
|
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp)
|
rs1800095
|
|
NM_000492.4(CFTR):c.1585-11006A>G
|
|
|
NM_000492.4(CFTR):c.1585-11869_1585-11865del
|
|
|
NM_000492.4(CFTR):c.1585-2211A>T
|
|
|
NM_000492.4(CFTR):c.161A>C (p.Glu54Ala)
|
|
|
NM_000492.4(CFTR):c.161A>G (p.Glu54Gly)
|
|
|
NM_000492.4(CFTR):c.163A>G (p.Arg55Gly)
|
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.164+3A>G
|
|
|
NM_000492.4(CFTR):c.164+5G>C
|
rs2116635341
|
|
NM_000492.4(CFTR):c.164+6T>C
|
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
NM_000492.4(CFTR):c.164G>A (p.Arg55Lys)
|
|
|
NM_000492.4(CFTR):c.1680-19A>C
|
|
|
NM_000492.4(CFTR):c.1680-2dup
|
rs1554389008
|
|
NM_000492.4(CFTR):c.1680-885T>C
|
rs1281580863
|
|
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr)
|
rs1226880376
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1685T>C (p.Val562Ala)
|
rs1792006361
|
|
NM_000492.4(CFTR):c.1690A>G (p.Lys564Glu)
|
|
|
NM_000492.4(CFTR):c.1693G>T (p.Asp565Tyr)
|
|
|
NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp)
|
rs1375786834
|
|
NM_000492.4(CFTR):c.1699G>A (p.Asp567Asn)
|
|
|
NM_000492.4(CFTR):c.16C>G (p.Leu6Val)
|
rs1554373095
|
|
NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala)
|
rs1562907186
|
|
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe)
|
rs397508275
|
|
NM_000492.4(CFTR):c.1709T>C (p.Leu570Ser)
|
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn)
|
rs397508282
|
|
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly)
|
rs1792007322
|
|
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
|
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
NM_000492.4(CFTR):c.1735G>A (p.Asp579Asn)
|
|
|
NM_000492.4(CFTR):c.1738G>A (p.Val580Ile)
|
rs2116025764
|
|
NM_000492.4(CFTR):c.1743A>T (p.Leu581Phe)
|
|
|
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)
|
rs397508292
|
|
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
|
|
|
NM_000492.4(CFTR):c.1759T>A (p.Phe587Ile)
|
|
|
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg)
|
rs917625450
|
|
NM_000492.4(CFTR):c.1766+3A>T
|
rs397508298
|
|
NM_000492.4(CFTR):c.1769G>A (p.Cys590Tyr)
|
rs1347776232
|
|
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
|
|
|
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro)
|
rs1554389245
|
|
NM_000492.4(CFTR):c.1783A>G (p.Met595Val)
|
rs750140050
|
|
NM_000492.4(CFTR):c.1789A>G (p.Asn597Asp)
|
|
|
NM_000492.4(CFTR):c.1801A>G (p.Ile601Val)
|
|
|
NM_000492.4(CFTR):c.1806G>T (p.Leu602Phe)
|
|
|
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe)
|
rs143036685
|
|
NM_000492.4(CFTR):c.1810A>C (p.Thr604Pro)
|
rs1554389267
|
|
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)
|
rs397508308
|
|
NM_000492.4(CFTR):c.1821G>A (p.Met607Ile)
|
|
|
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)
|
rs397508310
|
|
NM_000492.4(CFTR):c.1840G>A (p.Asp614Asn)
|
rs397508312
|
|
NM_000492.4(CFTR):c.1842C>A (p.Asp614Glu)
|
|
|
NM_000492.4(CFTR):c.1844A>G (p.Lys615Arg)
|
|
|
NM_000492.4(CFTR):c.1846A>G (p.Ile616Val)
|
|
|
NM_000492.4(CFTR):c.1848A>G (p.Ile616Met)
|
|
|
NM_000492.4(CFTR):c.1849_1851del (p.Leu617del)
|
|
|
NM_000492.4(CFTR):c.1856T>C (p.Leu619Ser)
|
rs397508313
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1870A>T (p.Ser624Cys)
|
|
|
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
|
|
|
NM_000492.4(CFTR):c.1874A>C (p.Tyr625Ser)
|
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.1888T>C (p.Phe630Leu)
|
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
NM_000492.4(CFTR):c.1902A>C (p.Gln634His)
|
|
|
NM_000492.4(CFTR):c.1905T>A (p.Asn635Lys)
|
|
|
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys)
|
rs397508320
|
|
NM_000492.4(CFTR):c.1915G>C (p.Asp639His)
|
|
|
NM_000492.4(CFTR):c.1920T>G (p.Phe640Leu)
|
|
|
NM_000492.4(CFTR):c.1927A>C (p.Lys643Gln)
|
|
|
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr)
|
rs377731410
|
|
NM_000492.4(CFTR):c.1935G>A (p.Met645Ile)
|
|
|
NM_000492.4(CFTR):c.1936G>A (p.Gly646Arg)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
NM_000492.4(CFTR):c.1955A>C (p.Gln652Pro)
|
|
|
NM_000492.4(CFTR):c.1960A>T (p.Ser654Cys)
|
rs1800099
|
|
NM_000492.4(CFTR):c.1962T>G (p.Ser654Arg)
|
|
|
NM_000492.4(CFTR):c.1964C>T (p.Ala655Val)
|
|
|
NM_000492.4(CFTR):c.1966G>C (p.Glu656Gln)
|
|
|
NM_000492.4(CFTR):c.1967A>G (p.Glu656Gly)
|
|
|
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp)
|
rs1060503163
|
|
NM_000492.4(CFTR):c.1970G>A (p.Arg657Lys)
|
|
|
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val)
|
rs777973729
|
|
NM_000492.4(CFTR):c.1990G>C (p.Glu664Gln)
|
|
|
NM_000492.4(CFTR):c.1992G>T (p.Glu664Asp)
|
rs1792036683
|
|
NM_000492.4(CFTR):c.1999C>T (p.His667Tyr)
|
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
NM_000492.4(CFTR):c.2003G>A (p.Arg668His)
|
|
|
NM_000492.4(CFTR):c.2005T>C (p.Phe669Leu)
|
rs2116031296
|
|
NM_000492.4(CFTR):c.2009C>T (p.Ser670Leu)
|
|
|
NM_000492.4(CFTR):c.2014G>A (p.Glu672Lys)
|
|
|
NM_000492.4(CFTR):c.2015_2017del (p.Glu672del)
|
rs397508330
|
|
NM_000492.4(CFTR):c.2017G>A (p.Gly673Arg)
|
|
|
NM_000492.4(CFTR):c.2020G>T (p.Asp674Tyr)
|
|
|
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)
|
rs762888022
|
|
NM_000492.4(CFTR):c.2026C>T (p.Pro676Ser)
|
|
|
NM_000492.4(CFTR):c.2033C>T (p.Ser678Phe)
|
|
|
NM_000492.4(CFTR):c.2035T>C (p.Trp679Arg)
|
|
|
NM_000492.4(CFTR):c.2045C>A (p.Thr682Lys)
|
|
|
NM_000492.4(CFTR):c.2052A>T (p.Lys684Asn)
|
rs750642366
|
|
NM_000492.4(CFTR):c.2054A>C (p.Gln685Pro)
|
|
|
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile)
|
rs372421038
|
|
NM_000492.4(CFTR):c.2066A>C (p.Gln689Pro)
|
|
|
NM_000492.4(CFTR):c.2072G>T (p.Gly691Val)
|
|
|
NM_000492.4(CFTR):c.2075A>T (p.Glu692Val)
|
|
|
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)
|
rs397508338
|
|
NM_000492.4(CFTR):c.2083G>A (p.Glu695Lys)
|
|
|
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg)
|
rs397508340
|
|
NM_000492.4(CFTR):c.208A>G (p.Ile70Val)
|
|
|
NM_000492.4(CFTR):c.2096A>T (p.Asn699Ile)
|
|
|
NM_000492.4(CFTR):c.2098T>C (p.Ser700Pro)
|
|
|
NM_000492.4(CFTR):c.2099C>A (p.Ser700Tyr)
|
|
|
NM_000492.4(CFTR):c.2107A>G (p.Asn703Asp)
|
|
|
NM_000492.4(CFTR):c.2108A>C (p.Asn703Thr)
|
|
|
NM_000492.4(CFTR):c.2108A>T (p.Asn703Ile)
|
|
|
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
|
|
|
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly)
|
rs121908760
|
|
NM_000492.4(CFTR):c.2129A>G (p.Lys710Arg)
|
rs2116032036
|
|
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser)
|
rs1003610229
|
|
NM_000492.4(CFTR):c.2131T>C (p.Phe711Leu)
|
rs1792042320
|
|
NM_000492.4(CFTR):c.2137A>G (p.Ile713Val)
|
|
|
NM_000492.4(CFTR):c.2140G>T (p.Val714Leu)
|
rs774199624
|
|
NM_000492.4(CFTR):c.2143C>G (p.Gln715Glu)
|
|
|
NM_000492.4(CFTR):c.2145A>G (p.Gln715=)
|
|
|
NM_000492.4(CFTR):c.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln)
|
rs2116032118
|
|
NM_000492.4(CFTR):c.2152C>T (p.Pro718Ser)
|
|
|
NM_000492.4(CFTR):c.215C>G (p.Ala72Gly)
|
|
|
NM_000492.4(CFTR):c.2166T>A (p.Asn722Lys)
|
|
|
NM_000492.4(CFTR):c.2170A>C (p.Ile724Leu)
|
|
|
NM_000492.4(CFTR):c.2171T>C (p.Ile724Thr)
|
|
|
NM_000492.4(CFTR):c.2179G>T (p.Asp727Tyr)
|
|
|
NM_000492.4(CFTR):c.2183C>T (p.Ser728Phe)
|
rs1584812535
|
|
NM_000492.4(CFTR):c.2185G>C (p.Asp729His)
|
|
|
NM_000492.4(CFTR):c.2186A>C (p.Asp729Ala)
|
|
|
NM_000492.4(CFTR):c.2188G>A (p.Glu730Lys)
|
|
|
NM_000492.4(CFTR):c.2189A>C (p.Glu730Ala)
|
|
|
NM_000492.4(CFTR):c.2192C>G (p.Pro731Arg)
|
|
|
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
|
|
|
NM_000492.4(CFTR):c.2200A>G (p.Arg734Gly)
|
|
|
NM_000492.4(CFTR):c.2205G>C (p.Arg735Ser)
|
rs2116032368
|
|
NM_000492.4(CFTR):c.2225C>T (p.Ser742Phe)
|
|
|
NM_000492.4(CFTR):c.2231A>C (p.Gln744Pro)
|
|
|
NM_000492.4(CFTR):c.2231A>G (p.Gln744Arg)
|
|
|
NM_000492.4(CFTR):c.2238G>C (p.Glu746Asp)
|
|
|
NM_000492.4(CFTR):c.2240C>A (p.Ala747Glu)
|
|
|
NM_000492.4(CFTR):c.2248C>A (p.Pro750Thr)
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)
|
rs397508357
|
|
NM_000492.4(CFTR):c.2254A>C (p.Ile752Leu)
|
|
|
NM_000492.4(CFTR):c.2254A>T (p.Ile752Phe)
|
|
|
NM_000492.4(CFTR):c.2267G>T (p.Ser756Ile)
|
|
|
NM_000492.4(CFTR):c.226T>A (p.Cys76Ser)
|
rs757959325
|
|
NM_000492.4(CFTR):c.2270C>G (p.Thr757Ser)
|
|
|
NM_000492.4(CFTR):c.2270C>T (p.Thr757Ile)
|
|
|
NM_000492.4(CFTR):c.2275C>A (p.Pro759Thr)
|
|
|
NM_000492.4(CFTR):c.2278A>G (p.Thr760Ala)
|
|
|
NM_000492.4(CFTR):c.227G>T (p.Cys76Phe)
|
|
|
NM_000492.4(CFTR):c.2281C>A (p.Leu761Ile)
|
|
|
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr)
|
rs2116032836
|
|
NM_000492.4(CFTR):c.2287G>T (p.Ala763Ser)
|
|
|
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp)
|
rs777536750
|
|
NM_000492.4(CFTR):c.2293A>G (p.Arg765Gly)
|
|
|
NM_000492.4(CFTR):c.2294G>A (p.Arg765Lys)
|
|
|
NM_000492.4(CFTR):c.2297G>C (p.Arg766Thr)
|
|
|
NM_000492.4(CFTR):c.2312A>G (p.Asn771Ser)
|
|
|
NM_000492.4(CFTR):c.2321C>G (p.Thr774Arg)
|
|
|
NM_000492.4(CFTR):c.2341C>G (p.Gln781Glu)
|
|
|
NM_000492.4(CFTR):c.2342A>G (p.Gln781Arg)
|
|
|
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
|
|
|
NM_000492.4(CFTR):c.2348T>G (p.Ile783Ser)
|
|
|
NM_000492.4(CFTR):c.2350C>G (p.His784Asp)
|
|
|
NM_000492.4(CFTR):c.2353C>G (p.Arg785Gly)
|
|
|
NM_000492.4(CFTR):c.2354G>C (p.Arg785Pro)
|
|
|
NM_000492.4(CFTR):c.2354G>T (p.Arg785Leu)
|
|
|
NM_000492.4(CFTR):c.2358G>C (p.Lys786Asn)
|
|
|
NM_000492.4(CFTR):c.2360C>A (p.Thr787Lys)
|
rs2116033185
|
|
NM_000492.4(CFTR):c.2379A>T (p.Lys793Asn)
|
|
|
NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)
|
|
|
NM_000492.4(CFTR):c.2381T>A (p.Val794Glu)
|
|
|
NM_000492.4(CFTR):c.2387T>A (p.Leu796Gln)
|
|
|
NM_000492.4(CFTR):c.2389G>T (p.Ala797Ser)
|
|
|
NM_000492.4(CFTR):c.2393C>G (p.Pro798Arg)
|
|
|
NM_000492.4(CFTR):c.2395C>A (p.Gln799Lys)
|
|
|
NM_000492.4(CFTR):c.2399C>A (p.Ala800Glu)
|
|
|
NM_000492.4(CFTR):c.2399C>T (p.Ala800Val)
|
|
|
NM_000492.4(CFTR):c.239G>C (p.Arg80Thr)
|
|
|
NM_000492.4(CFTR):c.2402A>T (p.Asn801Ile)
|
|
|
NM_000492.4(CFTR):c.2403C>G (p.Asn801Lys)
|
|
|
NM_000492.4(CFTR):c.2404T>G (p.Leu802Val)
|
|
|
NM_000492.4(CFTR):c.2418T>A (p.Asp806Glu)
|
|
|
NM_000492.4(CFTR):c.241T>C (p.Phe81Leu)
|
|
|
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr)
|
rs1554389471
|
|
NM_000492.4(CFTR):c.2426C>T (p.Ser809Leu)
|
|
|
NM_000492.4(CFTR):c.2427AAG[1] (p.Arg811del)
|
rs1554389478
|
|
NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr)
|
rs1798471062
|
|
NM_000492.4(CFTR):c.2430A>T (p.Arg810Ser)
|
|
|
NM_000492.4(CFTR):c.2434T>A (p.Leu812Ile)
|
|
|
NM_000492.4(CFTR):c.243T>G (p.Phe81Leu)
|
|
|
NM_000492.4(CFTR):c.2446A>C (p.Thr816Pro)
|
|
|
NM_000492.4(CFTR):c.244A>G (p.Met82Val)
|
rs1554376431
|
|
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
|
|
|
NM_000492.4(CFTR):c.2458A>C (p.Ile820Leu)
|
|
|
NM_000492.4(CFTR):c.2458A>G (p.Ile820Val)
|
|
|
NM_000492.4(CFTR):c.2462G>A (p.Ser821Asn)
|
|
|
NM_000492.4(CFTR):c.2470A>G (p.Ile824Val)
|
|
|
NM_000492.4(CFTR):c.2472T>G (p.Ile824Met)
|
|
|
NM_000492.4(CFTR):c.2474A>G (p.Asn825Ser)
|
rs1398481391
|
|
NM_000492.4(CFTR):c.2478AGA[1] (p.Glu827del)
|
rs2116034014
|
|
NM_000492.4(CFTR):c.2483A>G (p.Asp828Gly)
|
|
|
NM_000492.4(CFTR):c.2490+1083C>T
|
|
|
NM_000492.4(CFTR):c.2490+4_2490+6dup
|
rs1554389497
|
|
NM_000492.4(CFTR):c.2490+4_2490+7del
|
|
|
NM_000492.4(CFTR):c.2490+7A>G
|
rs751864459
|
|
NM_000492.4(CFTR):c.2490G>A (p.Lys830=)
|
|
|
NM_000492.4(CFTR):c.249C>G (p.Phe83Leu)
|
|
|
NM_000492.4(CFTR):c.2503G>A (p.Asp835Asn)
|
rs2116039305
|
|
NM_000492.4(CFTR):c.2503G>T (p.Asp835Tyr)
|
|
|
NM_000492.4(CFTR):c.2515A>C (p.Ser839Arg)
|
rs2116039371
|
|
NM_000492.4(CFTR):c.2515A>G (p.Ser839Gly)
|
|
|
NM_000492.4(CFTR):c.251A>G (p.Tyr84Cys)
|
|
|
NM_000492.4(CFTR):c.2528T>A (p.Val843Glu)
|
|
|
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile)
|
rs1792097477
|
|
NM_000492.4(CFTR):c.2533A>C (p.Thr845Pro)
|
|
|
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
|
|
|
NM_000492.4(CFTR):c.253_255del (p.Gly85del)
|
|
|
NM_000492.4(CFTR):c.2543C>G (p.Thr848Arg)
|
|
|
NM_000492.4(CFTR):c.2545T>A (p.Tyr849Asn)
|
rs757165481
|
|
NM_000492.4(CFTR):c.2546A>G (p.Tyr849Cys)
|
rs780811333
|
|
NM_000492.4(CFTR):c.2549T>G (p.Leu850Arg)
|
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
NM_000492.4(CFTR):c.2561C>T (p.Thr854Ile)
|
|
|
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)
|
rs1584813846
|
|
NM_000492.4(CFTR):c.2566_2567insTAC (p.Val855_His856insLeu)
|
rs774507425
|
|
NM_000492.4(CFTR):c.2570A>G (p.Lys857Arg)
|
rs1584813860
|
|
NM_000492.4(CFTR):c.2573G>A (p.Ser858Asn)
|
rs2116039677
|
|
NM_000492.4(CFTR):c.2578A>G (p.Ile860Val)
|
|
|
NM_000492.4(CFTR):c.2579T>C (p.Ile860Thr)
|
|
|
NM_000492.4(CFTR):c.257T>A (p.Ile86Asn)
|
rs1798471787
|
|
NM_000492.4(CFTR):c.2584G>A (p.Val862Met)
|
|
|
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
|
|
|
NM_000492.4(CFTR):c.2598C>G (p.Cys866Trp)
|
|
|
NM_000492.4(CFTR):c.2606T>G (p.Ile869Ser)
|
|
|
NM_000492.4(CFTR):c.2614G>A (p.Ala872Thr)
|
rs2116039854
|
|
NM_000492.4(CFTR):c.2617G>A (p.Glu873Lys)
|
|
|
NM_000492.4(CFTR):c.2619+3A>G
|
rs397508408
|
|
NM_000492.4(CFTR):c.2619G>A (p.Glu873=)
|
rs397508409
|
|
NM_000492.4(CFTR):c.2620-12G>T
|
|
|
NM_000492.4(CFTR):c.2620G>A (p.Val874Met)
|
|
|
NM_000492.4(CFTR):c.2624C>T (p.Ala875Val)
|
|
|
NM_000492.4(CFTR):c.2626G>A (p.Ala876Thr)
|
rs1328356747
|
|
NM_000492.4(CFTR):c.2626G>T (p.Ala876Ser)
|
|
|
NM_000492.4(CFTR):c.2634G>C (p.Leu878Phe)
|
|
|
NM_000492.4(CFTR):c.2636T>A (p.Val879Asp)
|
|
|
NM_000492.4(CFTR):c.2636T>C (p.Val879Ala)
|
|
|
NM_000492.4(CFTR):c.2642T>C (p.Leu881Pro)
|
|
|
NM_000492.4(CFTR):c.2657+17C>T
|
rs368543375
|
|
NM_000492.4(CFTR):c.2657+3G>C
|
|
|
NM_000492.4(CFTR):c.2657+3G>T
|
|
|
NM_000492.4(CFTR):c.2658-12T>G
|
|
|
NM_000492.4(CFTR):c.2663C>A (p.Pro888His)
|
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
NM_000492.4(CFTR):c.2677G>A (p.Gly893Arg)
|
|
|
NM_000492.4(CFTR):c.2681A>C (p.Asn894Thr)
|
|
|
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
|
|
|
NM_000492.4(CFTR):c.2683A>G (p.Ser895Gly)
|
rs1792256745
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2687_2690delinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer)
|
rs397508420
|
|
NM_000492.4(CFTR):c.2692A>G (p.Ser898Gly)
|
|
|
NM_000492.4(CFTR):c.2695A>G (p.Arg899Gly)
|
|
|
NM_000492.4(CFTR):c.2702A>T (p.Asn901Ile)
|
|
|
NM_000492.4(CFTR):c.2705G>C (p.Ser902Thr)
|
rs2116061306
|
|
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)
|
rs397508422
|
|
NM_000492.4(CFTR):c.2717T>A (p.Ile906Asn)
|
|
|
NM_000492.4(CFTR):c.2719A>G (p.Ile907Val)
|
rs397508423
|
|
NM_000492.4(CFTR):c.2720T>A (p.Ile907Asn)
|
|
|
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
|
|
|
NM_000492.4(CFTR):c.2729C>G (p.Thr910Ser)
|
|
|
NM_000492.4(CFTR):c.273+7334T>C
|
|
|
NM_000492.4(CFTR):c.273+8304C>T
|
|
|
NM_000492.4(CFTR):c.273+8T>A
|
rs1189108407
|
|
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr)
|
rs1554390984
|
|
NM_000492.4(CFTR):c.274-1407T>G
|
|
|
NM_000492.4(CFTR):c.274-3T>C
|
rs1554379763
|
|
NM_000492.4(CFTR):c.274-5T>A
|
rs1454461758
|
|
NM_000492.4(CFTR):c.274-8043A>G
|
|
|
NM_000492.4(CFTR):c.2750A>G (p.Tyr917Cys)
|
rs397508428
|
|
NM_000492.4(CFTR):c.2752A>C (p.Ile918Leu)
|
|
|
NM_000492.4(CFTR):c.2752A>T (p.Ile918Phe)
|
rs1267646551
|
|
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn)
|
rs1033530699
|
|
NM_000492.4(CFTR):c.2758G>C (p.Val920Leu)
|
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu)
|
rs193922508
|
|
NM_000492.4(CFTR):c.2762G>T (p.Gly921Val)
|
rs193922508
|
|
NM_000492.4(CFTR):c.2764G>A (p.Val922Ile)
|
rs1792259336
|
|
NM_000492.4(CFTR):c.2764G>C (p.Val922Leu)
|
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
NM_000492.4(CFTR):c.2770G>C (p.Asp924His)
|
rs201759207
|
|
NM_000492.4(CFTR):c.2773A>G (p.Thr925Ala)
|
rs1423162478
|
|
NM_000492.4(CFTR):c.2774C>A (p.Thr925Asn)
|
|
|
NM_000492.4(CFTR):c.2774C>G (p.Thr925Ser)
|
|
|
NM_000492.4(CFTR):c.2774C>T (p.Thr925Ile)
|
|
|
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
NM_000492.4(CFTR):c.2787G>A (p.Met929Ile)
|
|
|
NM_000492.4(CFTR):c.278T>A (p.Val93Asp)
|
|
|
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser)
|
rs397508437
|
|
NM_000492.4(CFTR):c.2806C>T (p.Pro936Ser)
|
|
|
NM_000492.4(CFTR):c.2807C>T (p.Pro936Leu)
|
|
|
NM_000492.4(CFTR):c.2809C>G (p.Leu937Val)
|
|
|
NM_000492.4(CFTR):c.280A>C (p.Thr94Pro)
|
rs1434378124
|
|
NM_000492.4(CFTR):c.2810T>C (p.Leu937Pro)
|
|
|
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu)
|
rs749784731
|
|
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu)
|
rs749784731
|
|
NM_000492.4(CFTR):c.2819C>T (p.Thr940Ile)
|
|
|
NM_000492.4(CFTR):c.2830G>C (p.Val944Leu)
|
|
|
NM_000492.4(CFTR):c.2836A>C (p.Lys946Gln)
|
|
|
NM_000492.4(CFTR):c.2840T>C (p.Ile947Thr)
|
|
|
NM_000492.4(CFTR):c.2844A>C (p.Leu948Phe)
|
|
|
NM_000492.4(CFTR):c.2848C>T (p.His950Tyr)
|
|
|
NM_000492.4(CFTR):c.284A>G (p.Lys95Arg)
|
|
|
NM_000492.4(CFTR):c.2851A>G (p.Lys951Glu)
|
|
|
NM_000492.4(CFTR):c.2854A>G (p.Met952Val)
|
|
|
NM_000492.4(CFTR):c.2855T>G (p.Met952Arg)
|
|
|
NM_000492.4(CFTR):c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp)
|
|
|
NM_000492.4(CFTR):c.2861A>G (p.His954Arg)
|
|
|
NM_000492.4(CFTR):c.2863T>G (p.Ser955Ala)
|
rs1584817978
|
|
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
|
|
|
NM_000492.4(CFTR):c.288_296del (p.Val97_Pro99del)
|
|
|
NM_000492.4(CFTR):c.2890C>T (p.Leu964Phe)
|
|
|
NM_000492.4(CFTR):c.2894A>G (p.Asn965Ser)
|
|
|
NM_000492.4(CFTR):c.2906C>G (p.Ala969Gly)
|
|
|
NM_000492.4(CFTR):c.2906C>T (p.Ala969Val)
|
rs936934088
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
|
|
|
NM_000492.4(CFTR):c.2908+3A>C
|
rs1554391091
|
|
NM_000492.4(CFTR):c.2908+3_2908+14del
|
|
|
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.2916_2917delinsAT (p.Leu973Phe)
|
rs397508459
|
|
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro)
|
rs397508460
|
|
NM_000492.4(CFTR):c.2928C>A (p.Phe976Leu)
|
|
|
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)
|
rs137975784
|
|
NM_000492.4(CFTR):c.2933A>G (p.Lys978Arg)
|
|
|
NM_000492.4(CFTR):c.2935G>T (p.Asp979Tyr)
|
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2942C>A (p.Ala981Glu)
|
|
|
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn)
|
rs764644021
|
|
NM_000492.4(CFTR):c.2951A>T (p.Asp984Val)
|
|
|
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala)
|
rs1031657153
|
|
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu)
|
rs1792306616
|
|
NM_000492.4(CFTR):c.2974T>C (p.Phe992Leu)
|
rs1043006335
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
|
|
|
NM_000492.4(CFTR):c.2988+33G>T
|
|
|
NM_000492.4(CFTR):c.298C>T (p.Leu100Phe)
|
|
|
NM_000492.4(CFTR):c.299T>A (p.Leu100His)
|
|
|
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)
|
rs762241850
|
|
NM_000492.4(CFTR):c.29G>C (p.Ser10Thr)
|
rs762241850
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.307G>A (p.Gly103Arg)
|
rs1584784895
|
|
NM_000492.4(CFTR):c.310A>G (p.Arg104Gly)
|
|
|
NM_000492.4(CFTR):c.311G>C (p.Arg104Thr)
|
|
|
NM_000492.4(CFTR):c.313A>C (p.Ile105Leu)
|
rs758675549
|
|
NM_000492.4(CFTR):c.316A>G (p.Ile106Val)
|
rs1024092547
|
|
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
|
|
|
NM_000492.4(CFTR):c.319G>C (p.Ala107Pro)
|
rs1562889219
|
|
NM_000492.4(CFTR):c.322T>C (p.Ser108Pro)
|
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn)
|
rs113993958
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)
|
rs397508541
|
|
NM_000492.4(CFTR):c.3368-19G>C
|
|
|
NM_000492.4(CFTR):c.3368-3T>C
|
rs2116096154
|
|
NM_000492.4(CFTR):c.3368-4A>G
|
rs748811222
|
|
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)
|
rs397508548
|
|
NM_000492.4(CFTR):c.3374G>A (p.Gly1125Glu)
|
|
|
NM_000492.4(CFTR):c.3385G>A (p.Val1129Ile)
|
|
|
NM_000492.4(CFTR):c.3385G>C (p.Val1129Leu)
|
rs2116096247
|
|
NM_000492.4(CFTR):c.3388G>A (p.Gly1130Ser)
|
|
|
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)
|
rs397508550
|
|
NM_000492.4(CFTR):c.3392T>C (p.Ile1131Thr)
|
|
|
NM_000492.4(CFTR):c.3401C>A (p.Thr1134Asn)
|
|
|
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
|
|
|
NM_000492.4(CFTR):c.3413A>G (p.Asn1138Ser)
|
|
|
NM_000492.4(CFTR):c.3418A>T (p.Met1140Leu)
|
|
|
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile)
|
rs1554392775
|
|
NM_000492.4(CFTR):c.3428T>C (p.Leu1143Ser)
|
|
|
NM_000492.4(CFTR):c.342G>C (p.Lys114Asn)
|
|
|
NM_000492.4(CFTR):c.3437C>T (p.Ala1146Val)
|
|
|
NM_000492.4(CFTR):c.3449G>C (p.Ser1150Thr)
|
rs1792458131
|
|
NM_000492.4(CFTR):c.3452T>A (p.Ile1151Lys)
|
rs1584824269
|
|
NM_000492.4(CFTR):c.3460G>A (p.Asp1154Asn)
|
rs397508568
|
|
NM_000492.4(CFTR):c.3460G>T (p.Asp1154Tyr)
|
rs397508568
|
|
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
|
|
|
NM_000492.4(CFTR):c.3468+3566G>A
|
|
|
NM_000492.4(CFTR):c.3469-1G>T
|
|
|
NM_000492.4(CFTR):c.3469-3C>A
|
|
|
NM_000492.4(CFTR):c.3469-5T>C
|
|
|
NM_000492.4(CFTR):c.346G>C (p.Glu116Gln)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3471G>A (p.Met1157Ile)
|
|
|
NM_000492.4(CFTR):c.3481A>G (p.Ser1161Gly)
|
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3487G>A (p.Val1163Ile)
|
|
|
NM_000492.4(CFTR):c.3494A>C (p.Lys1165Thr)
|
rs753508195
|
|
NM_000492.4(CFTR):c.3498C>G (p.Phe1166Leu)
|
rs1792670307
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn)
|
rs2116129005
|
|
NM_000492.4(CFTR):c.3505A>G (p.Met1169Val)
|
|
|
NM_000492.4(CFTR):c.3508C>T (p.Pro1170Ser)
|
rs1792670534
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3514G>C (p.Glu1172Gln)
|
|
|
NM_000492.4(CFTR):c.3518G>A (p.Gly1173Asp)
|
|
|
NM_000492.4(CFTR):c.3523C>T (p.Pro1175Ser)
|
|
|
NM_000492.4(CFTR):c.3524C>T (p.Pro1175Leu)
|
|
|
NM_000492.4(CFTR):c.3527C>G (p.Thr1176Ser)
|
|
|
NM_000492.4(CFTR):c.3529A>G (p.Lys1177Glu)
|
rs397508578
|
|
NM_000492.4(CFTR):c.3532T>A (p.Ser1178Thr)
|
|
|
NM_000492.4(CFTR):c.3544T>C (p.Tyr1182His)
|
rs770167300
|
|
NM_000492.4(CFTR):c.3559C>A (p.Leu1187Ile)
|
|
|
NM_000492.4(CFTR):c.3559C>G (p.Leu1187Val)
|
|
|
NM_000492.4(CFTR):c.3559C>T (p.Leu1187Phe)
|
|
|
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu)
|
rs1036123285
|
|
NM_000492.4(CFTR):c.3568G>A (p.Val1190Ile)
|
|
|
NM_000492.4(CFTR):c.356T>A (p.Ile119Asn)
|
|
|
NM_000492.4(CFTR):c.356T>G (p.Ile119Ser)
|
|
|
NM_000492.4(CFTR):c.3573G>A (p.Met1191Ile)
|
rs1359962349
|
|
NM_000492.4(CFTR):c.3574A>T (p.Ile1192Phe)
|
rs1792672546
|
|
NM_000492.4(CFTR):c.3578T>C (p.Ile1193Thr)
|
|
|
NM_000492.4(CFTR):c.3585T>A (p.Asn1195Lys)
|
|
|
NM_000492.4(CFTR):c.3590A>G (p.His1197Arg)
|
rs765133036
|
|
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu)
|
rs765133036
|
|
NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln)
|
|
|
NM_000492.4(CFTR):c.359C>T (p.Ala120Val)
|
rs1265244783
|
|
NM_000492.4(CFTR):c.3600A>T (p.Lys1200Asn)
|
|
|
NM_000492.4(CFTR):c.3605A>G (p.Asp1202Gly)
|
|
|
NM_000492.4(CFTR):c.3611G>T (p.Trp1204Leu)
|
|
|
NM_000492.4(CFTR):c.3614C>A (p.Pro1205His)
|
|
|
NM_000492.4(CFTR):c.3614C>G (p.Pro1205Arg)
|
|
|
NM_000492.4(CFTR):c.361A>G (p.Ile121Val)
|
rs574654063
|
|
NM_000492.4(CFTR):c.3623G>C (p.Gly1208Ala)
|
|
|
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu)
|
rs151264397
|
|
NM_000492.4(CFTR):c.3628A>T (p.Met1210Leu)
|
|
|
NM_000492.4(CFTR):c.3637A>C (p.Lys1213Gln)
|
|
|
NM_000492.4(CFTR):c.3637A>G (p.Lys1213Glu)
|
|
|
NM_000492.4(CFTR):c.3641A>G (p.Asp1214Gly)
|
|
|
NM_000492.4(CFTR):c.3641A>T (p.Asp1214Val)
|
rs1792675407
|
|
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn)
|
rs397508592
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
NM_000492.4(CFTR):c.3676A>G (p.Ile1226Val)
|
rs2116129961
|
|
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser)
|
rs397508593
|
|
NM_000492.4(CFTR):c.3688A>G (p.Ile1230Val)
|
|
|
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
|
|
|
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro)
|
rs1792676456
|
|
NM_000492.4(CFTR):c.3697T>C (p.Ser1233Pro)
|
|
|
NM_000492.4(CFTR):c.3706C>G (p.Pro1236Ala)
|
|
|
NM_000492.4(CFTR):c.3711C>A (p.Gly1237=)
|
rs1316425599
|
|
NM_000492.4(CFTR):c.3717+14A>G
|
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3717+6029A>G
|
|
|
NM_000492.4(CFTR):c.3718-3598C>T
|
rs2116156664
|
|
NM_000492.4(CFTR):c.3718-3T>C
|
|
|
NM_000492.4(CFTR):c.3718G>T (p.Val1240Leu)
|
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.371G>A (p.Gly124Asp)
|
|
|
NM_000492.4(CFTR):c.3721G>A (p.Gly1241Ser)
|
|
|
NM_000492.4(CFTR):c.3722G>A (p.Gly1241Asp)
|
|
|
NM_000492.4(CFTR):c.3724C>T (p.Leu1242Phe)
|
|
|
NM_000492.4(CFTR):c.3725T>A (p.Leu1242His)
|
|
|
NM_000492.4(CFTR):c.3728T>G (p.Leu1243Trp)
|
|
|
NM_000492.4(CFTR):c.372C>T (p.Gly124=)
|
rs1060503162
|
|
NM_000492.4(CFTR):c.3740G>A (p.Gly1247Glu)
|
|
|
NM_000492.4(CFTR):c.3740G>T (p.Gly1247Val)
|
|
|
NM_000492.4(CFTR):c.3749_3751dup (p.Lys1250dup)
|
rs1584836961
|
|
NM_000492.4(CFTR):c.3752G>C (p.Ser1251Thr)
|
|
|
NM_000492.4(CFTR):c.3759G>T (p.Leu1253Phe)
|
|
|
NM_000492.4(CFTR):c.375A>G (p.Ile125Met)
|
|
|
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3767C>G (p.Ala1256Gly)
|
rs773852510
|
|
NM_000492.4(CFTR):c.3776G>C (p.Arg1259Thr)
|
rs1470171438
|
|
NM_000492.4(CFTR):c.3779T>C (p.Leu1260Pro)
|
|
|
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala)
|
rs397508609
|
|
NM_000492.4(CFTR):c.3782T>G (p.Leu1261Arg)
|
|
|
NM_000492.4(CFTR):c.3787A>G (p.Thr1263Ala)
|
rs1554395363
|
|
NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu)
|
rs1554395370
|
|
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val)
|
rs1554395370
|
|
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_000492.4(CFTR):c.379T>C (p.Leu127=)
|
rs2116670348
|
|
NM_000492.4(CFTR):c.3800T>A (p.Ile1267Asn)
|
|
|
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
|
|
|
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met)
|
rs1800129
|
|
NM_000492.4(CFTR):c.3811G>A (p.Gly1271Ser)
|
|
|
NM_000492.4(CFTR):c.3815T>G (p.Val1272Gly)
|
|
|
NM_000492.4(CFTR):c.3824A>G (p.Asp1275Gly)
|
|
|
NM_000492.4(CFTR):c.3829A>G (p.Ile1277Val)
|
|
|
NM_000492.4(CFTR):c.3836T>C (p.Leu1279Ser)
|
rs1286786026
|
|
NM_000492.4(CFTR):c.3837G>T (p.Leu1279Phe)
|
|
|
NM_000492.4(CFTR):c.3842A>C (p.Gln1281Pro)
|
|
|
NM_000492.4(CFTR):c.3842A>G (p.Gln1281Arg)
|
rs752127256
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3848G>A (p.Arg1283Lys)
|
rs77902683
|
|
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser)
|
rs1792935893
|
|
NM_000492.4(CFTR):c.3853G>A (p.Ala1285Thr)
|
rs868174013
|
|
NM_000492.4(CFTR):c.3854C>G (p.Ala1285Gly)
|
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys)
|
rs121909028
|
|
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg)
|
rs1792936385
|
|
NM_000492.4(CFTR):c.3862G>A (p.Val1288Met)
|
|
|
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser)
|
rs397508619
|
|
NM_000492.4(CFTR):c.3869C>T (p.Pro1290Leu)
|
|
|
NM_000492.4(CFTR):c.386T>C (p.Leu129Pro)
|
|
|
NM_000492.4(CFTR):c.386T>G (p.Leu129Arg)
|
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.3873+5G>A
|
|
|
NM_000492.4(CFTR):c.3874-27TTC[2]
|
rs397508623
|
|
NM_000492.4(CFTR):c.3874-3828G>T
|
|
|
NM_000492.4(CFTR):c.3874-3854C>G
|
|
|
NM_000492.4(CFTR):c.3874-8T>A
|
rs397508625
|
|
NM_000492.4(CFTR):c.3887T>C (p.Phe1296Ser)
|
|
|
NM_000492.4(CFTR):c.388C>G (p.Leu130Val)
|
rs397508632
|
|
NM_000492.4(CFTR):c.3893G>C (p.Gly1298Ala)
|
rs193922522
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.389T>C (p.Leu130Pro)
|
rs1798853976
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3904A>G (p.Lys1302Glu)
|
|
|
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr)
|
rs397508636
|
|
NM_000492.4(CFTR):c.3910T>G (p.Leu1304Val)
|
|
|
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu)
|
rs397508640
|
|
NM_000492.4(CFTR):c.3917C>A (p.Pro1306His)
|
|
|
NM_000492.4(CFTR):c.391T>C (p.Phe131Leu)
|
|
|
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)
|
rs1793109904
|
|
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys)
|
rs121909026
|
|
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met)
|
rs1554396417
|
|
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala)
|
rs397508648
|
|
NM_000492.4(CFTR):c.3953T>G (p.Val1318Gly)
|
|
|
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu)
|
rs397508649
|
|
NM_000492.4(CFTR):c.3958G>A (p.Asp1320Asn)
|
|
|
NM_000492.4(CFTR):c.3958G>C (p.Asp1320His)
|
|
|
NM_000492.4(CFTR):c.3963+5G>C
|
|
|
NM_000492.4(CFTR):c.3963G>A (p.Glu1321=)
|
|
|
NM_000492.4(CFTR):c.3964-10C>T
|
|
|
NM_000492.4(CFTR):c.3964-16T>G
|
|
|
NM_000492.4(CFTR):c.3964-18del
|
|
|
NM_000492.4(CFTR):c.3964-7A>G
|
|
|
NM_000492.4(CFTR):c.3964G>A (p.Val1322Ile)
|
|
|
NM_000492.4(CFTR):c.3964G>T (p.Val1322Phe)
|
|
|
NM_000492.4(CFTR):c.3965T>A (p.Val1322Asp)
|
|
|
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser)
|
rs1793339514
|
|
NM_000492.4(CFTR):c.3980T>C (p.Val1327Ala)
|
|
|
NM_000492.4(CFTR):c.3980T>G (p.Val1327Gly)
|
|
|
NM_000492.4(CFTR):c.3984A>G (p.Ile1328Met)
|
|
|
NM_000492.4(CFTR):c.3989A>G (p.Gln1330Arg)
|
|
|
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile)
|
rs1369611499
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4007A>C (p.Asp1336Ala)
|
|
|
NM_000492.4(CFTR):c.4009T>A (p.Phe1337Ile)
|
|
|
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val)
|
rs397508659
|
|
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe)
|
rs397508660
|
|
NM_000492.4(CFTR):c.4018G>C (p.Val1340Leu)
|
rs1554397492
|
|
NM_000492.4(CFTR):c.4019T>A (p.Val1340Glu)
|
|
|
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys)
|
rs1584785049
|
|
NM_000492.4(CFTR):c.4024G>A (p.Gly1342Arg)
|
|
|
NM_000492.4(CFTR):c.4025G>T (p.Gly1342Val)
|
|
|
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp)
|
rs773458471
|
|
NM_000492.4(CFTR):c.4028G>C (p.Gly1343Ala)
|
|
|
NM_000492.4(CFTR):c.4030T>G (p.Cys1344Gly)
|
rs1793341222
|
|
NM_000492.4(CFTR):c.4034T>C (p.Val1345Ala)
|
|
|
NM_000492.4(CFTR):c.4037T>C (p.Leu1346Pro)
|
|
|
NM_000492.4(CFTR):c.4040G>A (p.Ser1347Asn)
|
|
|
NM_000492.4(CFTR):c.4042C>A (p.His1348Asn)
|
|
|
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.4053_4054delinsAG (p.Gln1352Glu)
|
rs2116221100
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr)
|
rs755993775
|
|
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg)
|
rs755993775
|
|
NM_000492.4(CFTR):c.4063T>G (p.Cys1355Gly)
|
|
|
NM_000492.4(CFTR):c.4067T>C (p.Leu1356Ser)
|
|
|
NM_000492.4(CFTR):c.4076C>A (p.Ser1359Tyr)
|
|
|
NM_000492.4(CFTR):c.4076C>G (p.Ser1359Cys)
|
|
|
NM_000492.4(CFTR):c.4078G>A (p.Val1360Ile)
|
|
|
NM_000492.4(CFTR):c.407T>C (p.Leu136Pro)
|
rs1798854681
|
|
NM_000492.4(CFTR):c.407T>G (p.Leu136Arg)
|
rs1798854681
|
|
NM_000492.4(CFTR):c.4081C>G (p.Leu1361Val)
|
rs772157232
|
|
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn)
|
rs777892053
|
|
NM_000492.4(CFTR):c.4088A>G (p.Lys1363Arg)
|
|
|
NM_000492.4(CFTR):c.4093A>G (p.Lys1365Glu)
|
|
|
NM_000492.4(CFTR):c.4096A>G (p.Ile1366Val)
|
|
|
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.40A>C (p.Lys14Gln)
|
|
|
NM_000492.4(CFTR):c.4103T>C (p.Leu1368Pro)
|
|
|
NM_000492.4(CFTR):c.4108G>C (p.Asp1370His)
|
|
|
NM_000492.4(CFTR):c.4110T>A (p.Asp1370Glu)
|
|
|
NM_000492.4(CFTR):c.4111_4113dup (p.Glu1371_Pro1372insGlu)
|
|
|
NM_000492.4(CFTR):c.4114C>A (p.Pro1372Thr)
|
rs397508676
|
|
NM_000492.4(CFTR):c.4114C>T (p.Pro1372Ser)
|
|
|
NM_000492.4(CFTR):c.4118G>T (p.Ser1373Ile)
|
rs587780313
|
|
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly)
|
rs115147093
|
|
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn)
|
rs150683293
|
|
NM_000492.4(CFTR):c.412_413insACT (p.Leu137_Leu138insHis)
|
rs397508679
|
|
NM_000492.4(CFTR):c.4135G>C (p.Val1379Leu)
|
|
|
NM_000492.4(CFTR):c.4136+3G>A
|
rs1584849002
|
|
NM_000492.4(CFTR):c.4136+5G>A
|
rs1584849005
|
|
NM_000492.4(CFTR):c.4136+6T>A
|
rs969884170
|
|
NM_000492.4(CFTR):c.4137-23G>A
|
|
|
NM_000492.4(CFTR):c.4139C>T (p.Thr1380Ile)
|
|
|
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His)
|
rs397508682
|
|
NM_000492.4(CFTR):c.4142A>C (p.Tyr1381Ser)
|
|
|
NM_000492.4(CFTR):c.4142A>T (p.Tyr1381Phe)
|
|
|
NM_000492.4(CFTR):c.4144C>A (p.Gln1382Lys)
|
|
|
NM_000492.4(CFTR):c.4147A>G (p.Ile1383Val)
|
|
|
NM_000492.4(CFTR):c.4147A>T (p.Ile1383Leu)
|
|
|
NM_000492.4(CFTR):c.4151T>C (p.Ile1384Thr)
|
rs1584849296
|
|
NM_000492.4(CFTR):c.415C>T (p.His139Tyr)
|
|
|
NM_000492.4(CFTR):c.4162C>G (p.Leu1388Val)
|
rs1554397584
|
|
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro)
|
rs397508688
|
|
NM_000492.4(CFTR):c.4178C>G (p.Ala1393Gly)
|
rs2116222697
|
|
NM_000492.4(CFTR):c.4183T>C (p.Cys1395Arg)
|
|
|
NM_000492.4(CFTR):c.4187C>T (p.Thr1396Ile)
|
|
|
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
|
|
|
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu)
|
rs397508691
|
|
NM_000492.4(CFTR):c.4195C>A (p.Leu1399Ile)
|
|
|
NM_000492.4(CFTR):c.4195C>G (p.Leu1399Val)
|
rs1562929162
|
|
NM_000492.4(CFTR):c.419C>G (p.Pro140Arg)
|
|
|
NM_000492.4(CFTR):c.419C>T (p.Pro140Leu)
|
rs397508694
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
NM_000492.4(CFTR):c.4205A>G (p.His1402Arg)
|
|
|
NM_000492.4(CFTR):c.4208G>A (p.Arg1403Lys)
|
|
|
NM_000492.4(CFTR):c.4209G>T (p.Arg1403Ser)
|
|
|
NM_000492.4(CFTR):c.4219A>G (p.Met1407Val)
|
|
|
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
|
|
|
NM_000492.4(CFTR):c.4223T>C (p.Leu1408Pro)
|
|
|
NM_000492.4(CFTR):c.4238T>G (p.Phe1413Cys)
|
|
|
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser)
|
rs397508703
|
|
NM_000492.4(CFTR):c.4242+6T>C
|
rs1562929200
|
|
NM_000492.4(CFTR):c.424A>G (p.Ile142Val)
|
rs1562889369
|
|
NM_000492.4(CFTR):c.425T>G (p.Ile142Ser)
|
|
|
NM_000492.4(CFTR):c.427T>G (p.Phe143Val)
|
|
|
NM_000492.4(CFTR):c.435TCA[1] (p.His147del)
|
|
|
NM_000492.4(CFTR):c.440A>C (p.His147Pro)
|
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
NM_000492.4(CFTR):c.443T>G (p.Ile148Ser)
|
|
|
NM_000492.4(CFTR):c.449T>A (p.Met150Lys)
|
rs1562889397
|
|
NM_000492.4(CFTR):c.449T>G (p.Met150Arg)
|
rs1562889397
|
|
NM_000492.4(CFTR):c.44T>A (p.Leu15His)
|
|
|
NM_000492.4(CFTR):c.450G>A (p.Met150Ile)
|
|
|
NM_000492.4(CFTR):c.456G>A (p.Met152Ile)
|
rs1403470018
|
|
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly)
|
rs1554379882
|
|
NM_000492.4(CFTR):c.466A>G (p.Met156Val)
|
|
|
NM_000492.4(CFTR):c.472A>G (p.Ser158Gly)
|
|
|
NM_000492.4(CFTR):c.472A>T (p.Ser158Cys)
|
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.478A>G (p.Ile160Val)
|
|
|
NM_000492.4(CFTR):c.479T>C (p.Ile160Thr)
|
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.488A>C (p.Lys163Thr)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.488A>T (p.Lys163Met)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.489G>A (p.Lys163=)
|
rs397508733
|
|
NM_000492.4(CFTR):c.491C>T (p.Thr164Ile)
|
|
|
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn)
|
rs2116674891
|
|
NM_000492.4(CFTR):c.503C>T (p.Ser168Leu)
|
rs869249241
|
|
NM_000492.4(CFTR):c.505A>G (p.Ser169Gly)
|
rs1554380309
|
|
NM_000492.4(CFTR):c.506G>A (p.Ser169Asn)
|
|
|
NM_000492.4(CFTR):c.508C>A (p.Arg170Ser)
|
rs578029902
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
NM_000492.4(CFTR):c.518A>T (p.Asp173Val)
|
|
|
NM_000492.4(CFTR):c.521A>G (p.Lys174Arg)
|
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.527G>T (p.Ser176Ile)
|
|
|
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
|
|
|
NM_000492.4(CFTR):c.53+3G>C
|
rs1797978937
|
|
NM_000492.4(CFTR):c.53+9G>T
|
rs745414764
|
|
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)
|
rs397508748
|
|
NM_000492.4(CFTR):c.539T>C (p.Leu180Pro)
|
|
|
NM_000492.4(CFTR):c.53G>T (p.Ser18Ile)
|
|
|
NM_000492.4(CFTR):c.54-13C>G
|
rs397508749
|
|
NM_000492.4(CFTR):c.54-9347T>A
|
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
NM_000492.4(CFTR):c.548T>A (p.Leu183His)
|
|
|
NM_000492.4(CFTR):c.551T>G (p.Leu184Arg)
|
rs1798913255
|
|
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr)
|
rs1798913314
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000492.4(CFTR):c.560A>G (p.Asn187Ser)
|
|
|
NM_000492.4(CFTR):c.562C>A (p.Leu188Met)
|
|
|
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro)
|
rs766640075
|
|
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)
|
rs397508755
|
|
NM_000492.4(CFTR):c.574G>C (p.Asp192His)
|
|
|
NM_000492.4(CFTR):c.575A>T (p.Asp192Val)
|
rs397508758
|
|
NM_000492.4(CFTR):c.579+4T>C
|
|
|
NM_000492.4(CFTR):c.579+8C>A
|
|
|
NM_000492.4(CFTR):c.580-3C>T
|
rs2116676312
|
|
NM_000492.4(CFTR):c.580G>C (p.Gly194Arg)
|
|
|
NM_000492.4(CFTR):c.586G>A (p.Ala196Thr)
|
|
|
NM_000492.4(CFTR):c.586G>C (p.Ala196Pro)
|
|
|
NM_000492.4(CFTR):c.587C>G (p.Ala196Gly)
|
|
|
NM_000492.4(CFTR):c.587C>T (p.Ala196Val)
|
rs1204822296
|
|
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr)
|
rs193922529
|
|
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)
|
rs193922529
|
|
NM_000492.4(CFTR):c.592G>T (p.Ala198Ser)
|
|
|
NM_000492.4(CFTR):c.593C>T (p.Ala198Val)
|
rs73215910
|
|
NM_000492.4(CFTR):c.598T>G (p.Phe200Val)
|
rs397508766
|
|
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro)
|
rs1797976959
|
|
NM_000492.4(CFTR):c.600C>A (p.Phe200Leu)
|
|
|
NM_000492.4(CFTR):c.609C>G (p.Ile203Met)
|
rs1800081
|
|
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser)
|
rs748026786
|
|
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg)
|
rs397508769
|
|
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe)
|
rs397508770
|
|
NM_000492.4(CFTR):c.619C>A (p.Gln207Lys)
|
|
|
NM_000492.4(CFTR):c.622G>A (p.Val208Met)
|
|
|
NM_000492.4(CFTR):c.626C>T (p.Ala209Val)
|
|
|
NM_000492.4(CFTR):c.628C>A (p.Leu210Ile)
|
|
|
NM_000492.4(CFTR):c.635T>C (p.Met212Thr)
|
|
|
NM_000492.4(CFTR):c.640C>G (p.Leu214Val)
|
rs188457893
|
|
NM_000492.4(CFTR):c.646T>C (p.Trp216Arg)
|
rs1562890551
|
|
NM_000492.4(CFTR):c.647G>C (p.Trp216Ser)
|
|
|
NM_000492.4(CFTR):c.661G>C (p.Ala221Pro)
|
|
|
NM_000492.4(CFTR):c.662C>A (p.Ala221Glu)
|
|
|
NM_000492.4(CFTR):c.662C>G (p.Ala221Gly)
|
|
|
NM_000492.4(CFTR):c.667G>T (p.Ala223Ser)
|
|
|
NM_000492.4(CFTR):c.670T>C (p.Phe224Leu)
|
|
|
NM_000492.4(CFTR):c.670T>G (p.Phe224Val)
|
|
|
NM_000492.4(CFTR):c.671T>C (p.Phe224Ser)
|
|
|
NM_000492.4(CFTR):c.676G>A (p.Gly226Arg)
|
|
|
NM_000492.4(CFTR):c.676G>C (p.Gly226Arg)
|
rs1562890588
|
|
NM_000492.4(CFTR):c.67A>G (p.Ile23Val)
|
rs1798377413
|
|
NM_000492.4(CFTR):c.682G>A (p.Gly228Ser)
|
|
|
NM_000492.4(CFTR):c.682G>T (p.Gly228Cys)
|
rs1435574279
|
|
NM_000492.4(CFTR):c.683G>A (p.Gly228Asp)
|
|
|
NM_000492.4(CFTR):c.68T>C (p.Ile23Thr)
|
|
|
NM_000492.4(CFTR):c.692T>G (p.Ile231Arg)
|
|
|
NM_000492.4(CFTR):c.697C>T (p.Leu233Phe)
|
rs775713428
|
|
NM_000492.4(CFTR):c.700G>T (p.Ala234Ser)
|
|
|
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp)
|
rs769016520
|
|
NM_000492.4(CFTR):c.703C>G (p.Leu235Val)
|
|
|
NM_000492.4(CFTR):c.704T>A (p.Leu235His)
|
|
|
NM_000492.4(CFTR):c.707T>A (p.Phe236Tyr)
|
|
|
NM_000492.4(CFTR):c.710A>C (p.Gln237Pro)
|
|
|
NM_000492.4(CFTR):c.711G>C (p.Gln237His)
|
rs397508785
|
|
NM_000492.4(CFTR):c.712G>T (p.Ala238Ser)
|
|
|
NM_000492.4(CFTR):c.716G>A (p.Gly239Glu)
|
|
|
NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
|
|
|
NM_000492.4(CFTR):c.721G>T (p.Gly241Trp)
|
|
|
NM_000492.4(CFTR):c.722G>A (p.Gly241Glu)
|
|
|
NM_000492.4(CFTR):c.727A>G (p.Met243Val)
|
|
|
NM_000492.4(CFTR):c.728T>C (p.Met243Thr)
|
|
|
NM_000492.4(CFTR):c.729G>A (p.Met243Ile)
|
|
|
NM_000492.4(CFTR):c.731T>C (p.Met244Thr)
|
|
|
NM_000492.4(CFTR):c.736A>C (p.Lys246Gln)
|
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+4G>T
|
rs193922530
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000492.4(CFTR):c.744-33GATT[5]
|
rs1805171
|
|
NM_000492.4(CFTR):c.745G>T (p.Asp249Tyr)
|
|
|
NM_000492.4(CFTR):c.754G>A (p.Ala252Thr)
|
rs748582435
|
|
NM_000492.4(CFTR):c.754G>C (p.Ala252Pro)
|
|
|
NM_000492.4(CFTR):c.754G>T (p.Ala252Ser)
|
|
|
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg)
|
rs1343896905
|
|
NM_000492.4(CFTR):c.765C>G (p.Ile255Met)
|
|
|
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly)
|
rs773790621
|
|
NM_000492.4(CFTR):c.770A>G (p.Glu257Gly)
|
|
|
NM_000492.4(CFTR):c.773G>A (p.Arg258Lys)
|
rs377514639
|
|
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe)
|
rs762640483
|
|
NM_000492.4(CFTR):c.778G>A (p.Val260Met)
|
rs1390016549
|
|
NM_000492.4(CFTR):c.782T>C (p.Ile261Thr)
|
|
|
NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
|
|
|
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)
|
rs397508797
|
|
NM_000492.4(CFTR):c.818A>C (p.Lys273Thr)
|
|
|
NM_000492.4(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn)
|
rs1554380796
|
|
NM_000492.4(CFTR):c.830G>C (p.Trp277Ser)
|
|
|
NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)
|
|
|
NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)
|
|
|
NM_000492.4(CFTR):c.851T>C (p.Met284Thr)
|
rs2116678778
|
|
NM_000492.4(CFTR):c.854T>C (p.Ile285Thr)
|
|
|
NM_000492.4(CFTR):c.85A>G (p.Arg29Gly)
|
|
|
NM_000492.4(CFTR):c.860A>G (p.Asn287Ser)
|
|
|
NM_000492.4(CFTR):c.865A>G (p.Arg289Gly)
|
|
|
NM_000492.4(CFTR):c.868C>G (p.Gln290Glu)
|
|
|
NM_000492.4(CFTR):c.869+5G>C
|
|
|
NM_000492.4(CFTR):c.869A>T (p.Gln290Leu)
|
|
|
NM_000492.4(CFTR):c.870-1110T>C
|
|
|
NM_000492.4(CFTR):c.870-5dup
|
rs759762840
|
|
NM_000492.4(CFTR):c.870-682_870-350del
|
|
|
NM_000492.4(CFTR):c.875A>G (p.Glu292Gly)
|
rs1799023050
|
|
NM_000492.4(CFTR):c.878T>G (p.Leu293Arg)
|
|
|
NM_000492.4(CFTR):c.895G>A (p.Ala299Thr)
|
rs1180803268
|
|
NM_000492.4(CFTR):c.896C>T (p.Ala299Val)
|
|
|
NM_000492.4(CFTR):c.899C>G (p.Ala300Gly)
|
|
|
NM_000492.4(CFTR):c.89A>C (p.Gln30Pro)
|
|
|
NM_000492.4(CFTR):c.901T>C (p.Tyr301His)
|
|
|
NM_000492.4(CFTR):c.905T>A (p.Val302Glu)
|
|
|
NM_000492.4(CFTR):c.905T>C (p.Val302Ala)
|
|
|
NM_000492.4(CFTR):c.911A>C (p.Tyr304Ser)
|
|
|
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys)
|
rs1562892143
|
|
NM_000492.4(CFTR):c.915C>G (p.Phe305Leu)
|
|
|
NM_000492.4(CFTR):c.920G>T (p.Ser307Ile)
|
|
|
NM_000492.4(CFTR):c.926C>A (p.Ala309Asp)
|
rs397508818
|
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NM_000492.4(CFTR):c.926C>T (p.Ala309Val)
|
rs397508818
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
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NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
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NM_000492.4(CFTR):c.932T>C (p.Phe311Ser)
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|
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NM_000492.4(CFTR):c.932T>G (p.Phe311Cys)
|
rs1584789230
|
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NM_000492.4(CFTR):c.940G>C (p.Gly314Arg)
|
rs397508819
|
|
NM_000492.4(CFTR):c.940G>T (p.Gly314Trp)
|
rs397508819
|
|
NM_000492.4(CFTR):c.941G>C (p.Gly314Ala)
|
rs75763344
|
|
NM_000492.4(CFTR):c.944T>G (p.Phe315Cys)
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|
|
NM_000492.4(CFTR):c.947T>C (p.Phe316Ser)
|
|
|
NM_000492.4(CFTR):c.949G>A (p.Val317Met)
|
|
|
NM_000492.4(CFTR):c.950T>G (p.Val317Gly)
|
|
|
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe)
|
rs56093012
|
|
NM_000492.4(CFTR):c.962C>G (p.Ser321Cys)
|
|
|
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu)
|
rs397508822
|
|
NM_000492.4(CFTR):c.976G>T (p.Ala326Ser)
|
|
|
NM_000492.4(CFTR):c.977C>G (p.Ala326Gly)
|
|
|
NM_000492.4(CFTR):c.977C>T (p.Ala326Val)
|
rs1584789296
|
|
NM_000492.4(CFTR):c.979C>G (p.Leu327Val)
|
|
|
NM_000492.4(CFTR):c.991A>T (p.Ile331Phe)
|
|
|
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)dup
|
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|
NM_000492.4:c.(273+1_274-1)_(1392+1_1393-1)dup
|
|
|
NM_000492.4:c.(2908+1_2909-1)_(3139+1_3140-1)dup
|
|
|