NM_000492.3(CFTR):c.-102A=
|
rs1797973431
|
0.99999
|
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)
|
rs1800470
|
0.60129
|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
NM_000492.4(CFTR):c.1680-870T>A
|
rs213965
|
0.55332
|
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg)
|
rs1801274
|
0.50935
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
NM_000492.4(CFTR):c.1766+152T>A
|
rs4148711
|
0.43526
|
NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His)
|
rs1051740
|
0.27126
|
NM_000492.4(CFTR):c.4137-139G>A
|
rs4727855
|
0.25573
|
NM_000492.4(CFTR):c.1393-61A>G
|
rs34855237
|
0.25355
|
NM_000492.4(CFTR):c.274-179G>A
|
rs1429566
|
0.24654
|
NM_000492.4(CFTR):c.3964-283T>C
|
rs10266116
|
0.23537
|
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)
|
rs1800136
|
0.23407
|
NM_000492.4(CFTR):c.1767-136T>C
|
rs11978434
|
0.20764
|
NM_000492.4(CFTR):c.3368-140A>C
|
rs213981
|
0.19089
|
NM_000492.4(CFTR):c.3874-200G>A
|
rs214164
|
0.18968
|
NM_000492.4(CFTR):c.3469-65C>A
|
rs213989
|
0.18576
|
NM_000660.7(TGFB1):c.861-20C>T
|
rs8179181
|
0.17369
|
NM_000492.4(CFTR):c.2909-92G>A
|
rs35050470
|
0.16197
|
NM_000492.4(CFTR):c.3140-92T>C
|
rs4148717
|
0.12640
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NG_016465.4:g.18346T>G
|
rs4148682
|
0.10044
|
NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
NM_000492.4(CFTR):c.869+11C>T
|
rs1800503
|
0.07590
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)
|
rs5030737
|
0.04964
|
NM_000492.4(CFTR):c.-8G>C
|
rs1800501
|
0.04368
|
NM_000492.4(CFTR):c.2909-71G>C
|
rs34830471
|
0.03795
|
NM_000492.4(CFTR):c.743+40A>G
|
rs1800502
|
0.03675
|
NM_000492.4(CFTR):c.3139+42A>T
|
rs28517401
|
0.03591
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_000492.4(CFTR):c.3468+2109T>C
|
rs213982
|
0.02368
|
NM_000492.4(CFTR):c.489+91A>G
|
rs56094102
|
0.02063
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_000492.4(CFTR):c.-887C>T
|
rs34465975
|
0.01630
|
NM_000492.4(CFTR):c.*1043A>C
|
rs10234329
|
0.01452
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_000660.7(TGFB1):c.355+5G>A
|
rs11466318
|
0.00894
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
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.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_000492.4(CFTR):c.1584+1179A>G
|
rs191397416
|
0.00558
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)
|
rs1800094
|
0.00491
|
NM_000492.4(CFTR):c.3718-2530A>G
|
rs213990
|
0.00445
|
NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
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.4242+13A>G
|
rs76179227
|
0.00295
|
NM_000492.4(CFTR):c.3367+37G>A
|
rs137854873
|
0.00226
|
NM_000492.4(CFTR):c.1210-13del
|
rs750294275
|
0.00222
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_000492.3(CFTR):c.-461A>G
|
rs185028612
|
0.00200
|
NM_000492.4(CFTR):c.1210-15del
|
rs371831442
|
0.00192
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000492.4(CFTR):c.*482C>T
|
rs147862180
|
0.00163
|
NM_000492.4(CFTR):c.*684A>G
|
rs146818281
|
0.00153
|
NM_000492.4(CFTR):c.1393-42G>A
|
rs34906874
|
0.00148
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_000492.4(CFTR):c.4243-5C>T
|
rs114402068
|
0.00138
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_000492.4(CFTR):c.580-92T>A
|
rs117548166
|
0.00133
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000492.4(CFTR):c.3139+18C>T
|
rs147945812
|
0.00126
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_000492.4(CFTR):c.3718-3630G>T
|
rs142677818
|
0.00117
|
NM_000492.3(CFTR):c.-1043dup
|
rs574740041
|
0.00109
|
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.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000492.4(CFTR):c.3718-79T>C
|
rs397508597
|
0.00096
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000492.4(CFTR):c.3139+101C>G
|
rs397508502
|
0.00077
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
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_001282426.2(PIK3CG):c.1076G>A (p.Arg359His)
|
rs144565710
|
0.00059
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_000492.4(CFTR):c.274-6586A>G
|
rs555473089
|
0.00052
|
NM_000492.4(CFTR):c.*94C>T
|
rs144214399
|
0.00051
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
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_000492.3(CFTR):c.-448A>G
|
rs943663200
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_000492.4(CFTR):c.3873+2194A>G
|
rs575989053
|
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.3154T>G (p.Phe1052Val)
|
rs150212784
|
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.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000492.4(CFTR):c.54-6168A>G
|
rs753840683
|
0.00037
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00036
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
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.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
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.1584+12T>C
|
rs193922502
|
0.00028
|
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.3874-540A>G
|
rs565351573
|
0.00024
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
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.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
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.-4G>C
|
rs369326781
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
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.2424T>C (p.Tyr808=)
|
rs143954792
|
0.00015
|
NM_000492.4(CFTR):c.2665C>T (p.Leu889Phe)
|
rs61738523
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000492.4(CFTR):c.54-8086A>G
|
rs756806855
|
0.00015
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000492.4(CFTR):c.1679+16T>C
|
rs397508262
|
0.00013
|
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.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
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.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000492.4(CFTR):c.738G>A (p.Lys246=)
|
rs35033453
|
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_000492.3(CFTR):c.-165G>A
|
rs145483167
|
0.00010
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
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.2619+2973A>G
|
rs569442197
|
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.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000492.4(CFTR):c.1210-15G>T
|
rs947648829
|
0.00009
|
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.2909-6T>C
|
rs369612622
|
0.00009
|
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)
|
rs374403559
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000492.4(CFTR):c.3718-24G>A
|
rs374013084
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
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.1585-1G>A
|
rs76713772
|
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.3025G>A (p.Ala1009Thr)
|
rs184724618
|
0.00008
|
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met)
|
rs576710089
|
0.00008
|
NM_000492.3(CFTR):c.-152G>C
|
rs551681003
|
0.00007
|
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.3468+51C>A
|
rs777394766
|
0.00007
|
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=)
|
rs1800134
|
0.00007
|
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu)
|
rs78742051
|
0.00007
|
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)
|
rs1801178
|
0.00006
|
NM_000492.4(CFTR):c.1584+3292A>G
|
rs147176173
|
0.00006
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
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.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00006
|
NM_000492.4(CFTR):c.2604A>G (p.Val868=)
|
rs1800105
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)
|
rs201591901
|
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.3783G>T (p.Leu1261=)
|
rs771812900
|
0.00006
|
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)
|
rs397508636
|
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.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)
|
rs397508720
|
0.00006
|
NM_000492.4(CFTR):c.489+87A>G
|
rs969399514
|
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.663G>A (p.Ala221=)
|
rs758147990
|
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.1209+12T>A
|
rs748021847
|
0.00005
|
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.1767-16T>C
|
rs200170245
|
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.2475C>T (p.Asn825=)
|
rs746961486
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=)
|
rs1800116
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
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.510T>A (p.Arg170=)
|
rs780772620
|
0.00005
|
NM_000492.4(CFTR):c.66A>G (p.Pro22=)
|
rs748899228
|
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.1227T>C (p.Phe409=)
|
rs778548877
|
0.00004
|
NM_000492.4(CFTR):c.1585-2061G>C
|
rs187146610
|
0.00004
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
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.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.1807G>A (p.Val603Ile)
|
rs143036685
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
NM_000492.4(CFTR):c.2052A>G (p.Lys684=)
|
rs750642366
|
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.2805A>G (p.Leu935=)
|
rs368967922
|
0.00004
|
NM_000492.4(CFTR):c.2832G>A (p.Val944=)
|
rs193922512
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.2988G>A (p.Gln996=)
|
rs121908797
|
0.00004
|
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)
|
rs769448889
|
0.00004
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=)
|
rs142526976
|
0.00004
|
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
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.3718-2476G>A
|
rs949635279
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.393T>C (p.Phe131=)
|
rs1039221071
|
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.4206C>T (p.His1402=)
|
rs368044495
|
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.579+1G>T
|
rs77188391
|
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.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)
|
rs200520623
|
0.00003
|
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=)
|
rs397508155
|
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.1164G>A (p.Thr388=)
|
rs1800088
|
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.1397C>G (p.Ser466Ter)
|
rs121908805
|
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.1466C>A (p.Ser489Ter)
|
rs397508211
|
0.00003
|
NM_000492.4(CFTR):c.147A>G (p.Leu49=)
|
rs140444668
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1500C>A (p.Gly500=)
|
rs762619288
|
0.00003
|
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)
|
rs773018372
|
0.00003
|
NM_000492.4(CFTR):c.1585-19T>C
|
rs778457306
|
0.00003
|
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser)
|
rs1276867493
|
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.1680-26T>C
|
rs397508265
|
0.00003
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
0.00003
|
NM_000492.4(CFTR):c.1734A>G (p.Leu578=)
|
rs201025424
|
0.00003
|
NM_000492.4(CFTR):c.1766G>C (p.Ser589Thr)
|
rs397508300
|
0.00003
|
NM_000492.4(CFTR):c.180G>C (p.Glu60Asp)
|
rs569426839
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.1907T>C (p.Leu636Pro)
|
rs374702882
|
0.00003
|
NM_000492.4(CFTR):c.1932C>G (p.Leu644=)
|
rs779674687
|
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.2668C>T (p.Gln890Ter)
|
rs79633941
|
0.00003
|
NM_000492.4(CFTR):c.2703C>T (p.Asn901=)
|
rs764201518
|
0.00003
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.274-8T>C
|
rs1186141962
|
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.2908+12G>C
|
rs184074547
|
0.00003
|
NM_000492.4(CFTR):c.2908+15C>G
|
rs766686188
|
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.3038C>A (p.Pro1013His)
|
rs193922516
|
0.00003
|
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)
|
rs1800113
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3239A>G (p.Lys1080Arg)
|
rs564165440
|
0.00003
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
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.4182T>C (p.Asp1394=)
|
rs763937782
|
0.00003
|
NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu)
|
rs1397796355
|
0.00003
|
NM_000492.4(CFTR):c.489+8T>G
|
rs727504712
|
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.653T>A (p.Leu218Ter)
|
rs397508777
|
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_000660.7(TGFB1):c.32T>A (p.Leu11Gln)
|
rs867906741
|
0.00003
|
NM_000492.3(CFTR):c.-837T>C
|
rs1415964307
|
0.00002
|
NM_000492.4(CFTR):c.1050C>G (p.Val350=)
|
rs1038437842
|
0.00002
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
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.1287C>T (p.Phe429=)
|
rs763577850
|
0.00002
|
NM_000492.4(CFTR):c.1290C>T (p.Phe430=)
|
rs764640445
|
0.00002
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
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.1518C>A (p.Ile506=)
|
rs1800092
|
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.165-3C>T
|
rs200337193
|
0.00002
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
NM_000492.4(CFTR):c.1680-13A>G
|
rs757981933
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
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.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)
|
rs77284892
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.2016A>G (p.Glu672=)
|
rs1312105870
|
0.00002
|
NM_000492.4(CFTR):c.2184T>G (p.Ser728=)
|
rs779304728
|
0.00002
|
NM_000492.4(CFTR):c.2241G>A (p.Ala747=)
|
rs146645194
|
0.00002
|
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)
|
rs201888075
|
0.00002
|
NM_000492.4(CFTR):c.2262G>C (p.Val754=)
|
rs1201012182
|
0.00002
|
NM_000492.4(CFTR):c.2322A>T (p.Thr774=)
|
rs778581398
|
0.00002
|
NM_000492.4(CFTR):c.2373A>G (p.Thr791=)
|
rs202115503
|
0.00002
|
NM_000492.4(CFTR):c.2490+5G>T
|
rs764466147
|
0.00002
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.2568C>T (p.His856=)
|
rs761255045
|
0.00002
|
NM_000492.4(CFTR):c.2620-17G>A
|
rs1306021109
|
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.274-1G>A
|
rs121908792
|
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.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
NM_000492.4(CFTR):c.3033A>G (p.Leu1011=)
|
rs773752573
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val)
|
rs759394109
|
0.00002
|
NM_000492.4(CFTR):c.3368-10G>A
|
rs1060504847
|
0.00002
|
NM_000492.4(CFTR):c.336T>C (p.Asp112=)
|
rs909596175
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly)
|
rs150326506
|
0.00002
|
NM_000492.4(CFTR):c.3627A>G (p.Gln1209=)
|
rs770069168
|
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.3723C>A (p.Gly1241=)
|
rs185065886
|
0.00002
|
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)
|
rs200921635
|
0.00002
|
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu)
|
rs752834717
|
0.00002
|
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)
|
rs547248892
|
0.00002
|
NM_000492.4(CFTR):c.3874-7G>A
|
rs776663932
|
0.00002
|
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=)
|
rs1800132
|
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.417C>T (p.His139=)
|
rs760281820
|
0.00002
|
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu)
|
rs578237673
|
0.00002
|
NM_000492.4(CFTR):c.4363T>G (p.Ser1455Ala)
|
rs748845320
|
0.00002
|
NM_000492.4(CFTR):c.4396G>T (p.Ala1466Ser)
|
rs199827645
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
|
rs80282562
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_000492.4(CFTR):c.589T>C (p.Leu197=)
|
rs755619078
|
0.00002
|
NM_000492.4(CFTR):c.609C>T (p.Ile203=)
|
rs1800081
|
0.00002
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
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.810A>G (p.Gln270=)
|
rs767312350
|
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.988G>T (p.Gly330Ter)
|
rs79031340
|
0.00002
|
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)
|
rs193922533
|
0.00002
|
NC_000007.14:g.117478787A>G
|
rs1195721615
|
0.00001
|
NM_000301.5(PLG):c.712G>A (p.Asp238Asn)
|
rs756287836
|
0.00001
|
NM_000492.4(CFTR):c.-602A>T
|
rs879620559
|
0.00001
|
NM_000492.4(CFTR):c.1003A>G (p.Lys335Glu)
|
rs1431852129
|
0.00001
|
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs)
|
rs397508138
|
0.00001
|
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)
|
rs77409459
|
0.00001
|
NM_000492.4(CFTR):c.1026C>T (p.Phe342=)
|
rs928312842
|
0.00001
|
NM_000492.4(CFTR):c.1036C>T (p.Leu346=)
|
rs575762281
|
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.1081del (p.Trp361fs)
|
rs387906361
|
0.00001
|
NM_000492.4(CFTR):c.1117-31A>G
|
rs1554381590
|
0.00001
|
NM_000492.4(CFTR):c.1117-7T>C
|
rs745505328
|
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.1150G>T (p.Glu384Ter)
|
rs1799061745
|
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.1218G>A (p.Gly406=)
|
rs532798256
|
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.1392+10T>C
|
rs1371427830
|
0.00001
|
NM_000492.4(CFTR):c.1392+12G>T
|
rs2896226
|
0.00001
|
NM_000492.4(CFTR):c.1393-13G>A
|
rs779389972
|
0.00001
|
NM_000492.4(CFTR):c.1393-2A>G
|
rs397508201
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_000492.4(CFTR):c.1407G>T (p.Met469Ile)
|
rs143218779
|
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.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg)
|
rs397508214
|
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.1545T>C (p.Tyr515=)
|
rs747504631
|
0.00001
|
NM_000492.4(CFTR):c.1557C>T (p.Ser519=)
|
rs757736710
|
0.00001
|
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
|
NM_000492.4(CFTR):c.1584+1G>A
|
rs397508230
|
0.00001
|
NM_000492.4(CFTR):c.1585-7G>A
|
rs1367201083
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.1587C>T (p.Asp529=)
|
rs772895745
|
0.00001
|
NM_000492.4(CFTR):c.15T>C (p.Pro5=)
|
rs751475070
|
0.00001
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)
|
rs148173473
|
0.00001
|
NM_000492.4(CFTR):c.1614T>A (p.Asn538Lys)
|
rs1196851290
|
0.00001
|
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)
|
rs144745159
|
0.00001
|
NM_000492.4(CFTR):c.1618G>A (p.Val540Ile)
|
rs187318937
|
0.00001
|
NM_000492.4(CFTR):c.1632T>G (p.Gly544=)
|
rs767846505
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro)
|
rs1791967656
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)
|
rs193922504
|
0.00001
|
NM_000492.4(CFTR):c.1674A>G (p.Leu558=)
|
rs770896561
|
0.00001
|
NM_000492.4(CFTR):c.1679+34G>T
|
rs767901668
|
0.00001
|
NM_000492.4(CFTR):c.1679+5A>G
|
rs397508264
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_000492.4(CFTR):c.1680-981T>C
|
rs727502937
|
0.00001
|
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)
|
rs121909006
|
0.00001
|
NM_000492.4(CFTR):c.1707T>C (p.Tyr569=)
|
rs397508278
|
0.00001
|
NM_000492.4(CFTR):c.1711T>C (p.Leu571=)
|
rs774376246
|
0.00001
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
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.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.1766+8C>G
|
rs1474138131
|
0.00001
|
NM_000492.4(CFTR):c.1770T>C (p.Cys590=)
|
rs1277496713
|
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.1809C>T (p.Val603=)
|
rs777795393
|
0.00001
|
NM_000492.4(CFTR):c.1811C>G (p.Thr604Ser)
|
rs397508308
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
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.1845A>G (p.Lys615=)
|
rs1792032957
|
0.00001
|
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser)
|
rs1368033715
|
0.00001
|
NM_000492.4(CFTR):c.1926A>C (p.Ser642=)
|
rs1554389299
|
0.00001
|
NM_000492.4(CFTR):c.1929A>G (p.Lys643=)
|
rs1792035121
|
0.00001
|
NM_000492.4(CFTR):c.192G>A (p.Lys64=)
|
rs1325969557
|
0.00001
|
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met)
|
rs1485998437
|
0.00001
|
NM_000492.4(CFTR):c.2028T>C (p.Pro676=)
|
rs751504707
|
0.00001
|
NM_000492.4(CFTR):c.2055A>G (p.Gln685=)
|
rs1457520634
|
0.00001
|
NM_000492.4(CFTR):c.2068A>G (p.Thr690Ala)
|
rs780579840
|
0.00001
|
NM_000492.4(CFTR):c.2112A>G (p.Pro704=)
|
rs926782023
|
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.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)
|
rs397508342
|
0.00001
|
NM_000492.4(CFTR):c.2142G>T (p.Val714=)
|
rs1216958032
|
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.2220A>G (p.Pro740=)
|
rs1792044298
|
0.00001
|
NM_000492.4(CFTR):c.222G>A (p.Arg74=)
|
rs1562884025
|
0.00001
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
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.2253C>T (p.Arg751=)
|
rs760893687
|
0.00001
|
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser)
|
rs766541549
|
0.00001
|
NM_000492.4(CFTR):c.2280G>A (p.Thr760=)
|
rs138634146
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
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.234dup (p.Trp79fs)
|
rs1189377616
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro)
|
rs1291965190
|
0.00001
|
NM_000492.4(CFTR):c.2391C>T (p.Ala797=)
|
rs773521854
|
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.2442A>G (p.Gln814=)
|
rs1366393014
|
0.00001
|
NM_000492.4(CFTR):c.2460A>T (p.Ile820=)
|
rs369664216
|
0.00001
|
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)
|
rs397508378
|
0.00001
|
NM_000492.4(CFTR):c.2482G>A (p.Asp828Asn)
|
rs759726447
|
0.00001
|
NM_000492.4(CFTR):c.2490+12T>A
|
rs1185896776
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2490+7A>T
|
rs751864459
|
0.00001
|
NM_000492.4(CFTR):c.2491-8T>C
|
rs540776134
|
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.2537G>A (p.Trp846Ter)
|
rs397508393
|
0.00001
|
NM_000492.4(CFTR):c.2544A>T (p.Thr848=)
|
rs751242146
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.2565C>A (p.Val855=)
|
rs1233428222
|
0.00001
|
NM_000492.4(CFTR):c.256A>G (p.Ile86Val)
|
rs749432776
|
0.00001
|
NM_000492.4(CFTR):c.258C>A (p.Ile86=)
|
rs374992300
|
0.00001
|
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)
|
rs1310658028
|
0.00001
|
NM_000492.4(CFTR):c.2619+17G>T
|
rs1439697748
|
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.2691T>C (p.His897=)
|
rs1792257064
|
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+1G>A
|
rs121908791
|
0.00001
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
NM_000492.4(CFTR):c.274-13T>C
|
rs1021474992
|
0.00001
|
NM_000492.4(CFTR):c.2742T>C (p.Tyr914=)
|
rs769879940
|
0.00001
|
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu)
|
rs770502501
|
0.00001
|
NM_000492.4(CFTR):c.2751C>T (p.Tyr917=)
|
rs1274886789
|
0.00001
|
NM_000492.4(CFTR):c.2757C>T (p.Tyr919=)
|
rs1408746819
|
0.00001
|
NM_000492.4(CFTR):c.2766A>G (p.Val922=)
|
rs762906556
|
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.27C>T (p.Ala9=)
|
rs1255831708
|
0.00001
|
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser)
|
rs750655055
|
0.00001
|
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr)
|
rs780528577
|
0.00001
|
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)
|
rs397508438
|
0.00001
|
NM_000492.4(CFTR):c.2810dup (p.Val938fs)
|
rs193922510
|
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.2835G>A (p.Ser945=)
|
rs193922513
|
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.2909-9A>G
|
rs778526355
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
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.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.2931C>T (p.Ser977=)
|
rs1333735364
|
0.00001
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met)
|
rs748430234
|
0.00001
|
NM_000492.4(CFTR):c.294G>A (p.Gln98=)
|
rs1225964754
|
0.00001
|
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)
|
rs397508467
|
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.2988+13A>T
|
rs1182945291
|
0.00001
|
NM_000492.4(CFTR):c.2988+20G>A
|
rs183819332
|
0.00001
|
NM_000492.4(CFTR):c.2994A>G (p.Leu998=)
|
rs751537272
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000492.4(CFTR):c.300C>G (p.Leu100=)
|
rs1206224160
|
0.00001
|
NM_000492.4(CFTR):c.3013A>G (p.Ile1005Val)
|
rs1562914085
|
0.00001
|
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter)
|
rs397508484
|
0.00001
|
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=)
|
rs537934752
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3064G>A (p.Val1022Met)
|
rs144441835
|
0.00001
|
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)
|
rs397508494
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3108C>T (p.Thr1036=)
|
rs773627677
|
0.00001
|
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)
|
rs397508500
|
0.00001
|
NM_000492.4(CFTR):c.3139+11G>C
|
rs555185521
|
0.00001
|
NM_000492.4(CFTR):c.3139+19G>A
|
rs751210436
|
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.3139_3139+1del
|
rs397508505
|
0.00001
|
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)
|
rs140883683
|
0.00001
|
NM_000492.4(CFTR):c.3160C>T (p.His1054Tyr)
|
rs397508510
|
0.00001
|
NM_000492.4(CFTR):c.3190A>G (p.Thr1064Ala)
|
rs1792387784
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln)
|
rs766126240
|
0.00001
|
NM_000492.4(CFTR):c.325T>C (p.Tyr109His)
|
rs397508522
|
0.00001
|
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)
|
rs150020260
|
0.00001
|
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)
|
rs764434414
|
0.00001
|
NM_000492.4(CFTR):c.3282A>G (p.Ser1094=)
|
rs757727766
|
0.00001
|
NM_000492.4(CFTR):c.3288G>A (p.Leu1096=)
|
rs936512397
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=)
|
rs746620950
|
0.00001
|
NM_000492.4(CFTR):c.3308T>C (p.Ile1103Thr)
|
rs1161781532
|
0.00001
|
NM_000492.4(CFTR):c.333G>A (p.Pro111=)
|
rs776878618
|
0.00001
|
NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr)
|
rs751853765
|
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.3375A>G (p.Gly1125=)
|
rs751140170
|
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.3406G>A (p.Ala1136Thr)
|
rs755968404
|
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.3441A>G (p.Val1147=)
|
rs375687401
|
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.357C>T (p.Ile119=)
|
rs1264742569
|
0.00001
|
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)
|
rs121908763
|
0.00001
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
NM_000492.4(CFTR):c.3591C>T (p.His1197=)
|
rs1393226501
|
0.00001
|
NM_000492.4(CFTR):c.3603T>C (p.Asp1201=)
|
rs1399548884
|
0.00001
|
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val)
|
rs75647395
|
0.00001
|
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)
|
rs121908765
|
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.3659del (p.Thr1220fs)
|
rs121908811
|
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.3681A>G (p.Leu1227=)
|
rs943312470
|
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.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3718-16C>T
|
rs1311755783
|
0.00001
|
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)
|
rs267606723
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3744del (p.Lys1250fs)
|
rs121908784
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
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.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.3780A>G (p.Leu1260=)
|
rs112339787
|
0.00001
|
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg)
|
rs766370233
|
0.00001
|
NM_000492.4(CFTR):c.3808del (p.Asp1270fs)
|
rs763843966
|
0.00001
|
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg)
|
rs397508616
|
0.00001
|
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr)
|
rs397508619
|
0.00001
|
NM_000492.4(CFTR):c.3873+15T>G
|
rs200482114
|
0.00001
|
NM_000492.4(CFTR):c.3873+7A>T
|
rs752993761
|
0.00001
|
NM_000492.4(CFTR):c.3873+9A>G
|
rs763211778
|
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.3903A>G (p.Arg1301=)
|
rs774683612
|
0.00001
|
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)
|
rs397508643
|
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.3963+9G>A
|
rs370196195
|
0.00001
|
NM_000492.4(CFTR):c.3964-6C>T
|
rs1357128849
|
0.00001
|
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=)
|
rs886061952
|
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.406C>T (p.Leu136=)
|
rs1351515691
|
0.00001
|
NM_000492.4(CFTR):c.4087A>C (p.Lys1363Gln)
|
rs1060503166
|
0.00001
|
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=)
|
rs759891255
|
0.00001
|
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)
|
rs397508673
|
0.00001
|
NM_000492.4(CFTR):c.4107T>C (p.Leu1369=)
|
rs772750690
|
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.4110T>C (p.Asp1370=)
|
rs1793345654
|
0.00001
|
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu)
|
rs397508677
|
0.00001
|
NM_000492.4(CFTR):c.4136+12A>G
|
rs777853603
|
0.00001
|
NM_000492.4(CFTR):c.4137-4C>A
|
rs766178879
|
0.00001
|
NM_000492.4(CFTR):c.4137-7T>C
|
rs1400171855
|
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.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.4242+8T>C
|
rs1258671235
|
0.00001
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
NM_000492.4(CFTR):c.4252del (p.Glu1418fs)
|
rs1554397750
|
0.00001
|
NM_000492.4(CFTR):c.4265G>A (p.Arg1422Gln)
|
rs780785939
|
0.00001
|
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)
|
rs397508708
|
0.00001
|
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe)
|
rs762847468
|
0.00001
|
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)
|
rs750559671
|
0.00001
|
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp)
|
rs397508711
|
0.00001
|
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln)
|
rs975983947
|
0.00001
|
NM_000492.4(CFTR):c.4320C>T (p.Ala1440=)
|
rs1292837576
|
0.00001
|
NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr)
|
rs766659587
|
0.00001
|
NM_000492.4(CFTR):c.4336A>C (p.Arg1446=)
|
rs985995406
|
0.00001
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)
|
rs983279303
|
0.00001
|
NM_000492.4(CFTR):c.436C>T (p.His146Tyr)
|
rs1798856136
|
0.00001
|
NM_000492.4(CFTR):c.4383G>T (p.Lys1461Asn)
|
rs1562929623
|
0.00001
|
NM_000492.4(CFTR):c.441C>G (p.His147Gln)
|
rs759310470
|
0.00001
|
NM_000492.4(CFTR):c.4427A>G (p.Gln1476Arg)
|
rs1793396213
|
0.00001
|
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys)
|
rs1325117166
|
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.475T>C (p.Leu159=)
|
rs769183771
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.489+25A>G
|
rs531830892
|
0.00001
|
NM_000492.4(CFTR):c.489+5T>C
|
rs1453085631
|
0.00001
|
NM_000492.4(CFTR):c.489+7C>T
|
rs770608125
|
0.00001
|
NM_000492.4(CFTR):c.490-7C>A
|
rs374318903
|
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.53+3158A>G
|
rs1264197967
|
0.00001
|
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr)
|
rs397508747
|
0.00001
|
NM_000492.4(CFTR):c.537A>G (p.Gln179=)
|
rs991635265
|
0.00001
|
NM_000492.4(CFTR):c.538C>G (p.Leu180Val)
|
rs374163420
|
0.00001
|
NM_000492.4(CFTR):c.54-8T>A
|
rs778197563
|
0.00001
|
NM_000492.4(CFTR):c.579+34A>G
|
rs148209839
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
NM_000492.4(CFTR):c.580-2A>G
|
rs193922730
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000492.4(CFTR):c.588A>G (p.Ala196=)
|
rs749896021
|
0.00001
|
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)
|
rs121908802
|
0.00001
|
NM_000492.4(CFTR):c.612T>G (p.Ala204=)
|
rs369247323
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser)
|
rs397508772
|
0.00001
|
NM_000492.4(CFTR):c.640C>T (p.Leu214=)
|
rs188457893
|
0.00001
|
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys)
|
rs397508776
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.70T>G (p.Leu24Val)
|
rs1056986309
|
0.00001
|
NM_000492.4(CFTR):c.720A>G (p.Leu240=)
|
rs1344097861
|
0.00001
|
NM_000492.4(CFTR):c.721G>A (p.Gly241Arg)
|
rs397508789
|
0.00001
|
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)
|
rs758012554
|
0.00001
|
NM_000492.4(CFTR):c.744-15T>C
|
rs369149477
|
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.801A>G (p.Glu267=)
|
rs1394905892
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
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.868C>T (p.Gln290Ter)
|
rs397508808
|
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.870-2A>G
|
rs1290078234
|
0.00001
|
NM_000492.4(CFTR):c.8G>T (p.Arg3Met)
|
rs1052894635
|
0.00001
|
NM_000492.4(CFTR):c.900C>A (p.Ala300=)
|
rs146652541
|
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.927C>G (p.Ala309=)
|
rs1800084
|
0.00001
|
NM_000492.4(CFTR):c.93C>A (p.Arg31=)
|
rs766315026
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000492.4(CFTR):c.942G>T (p.Gly314=)
|
rs1244183935
|
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.972C>G (p.Pro324=)
|
rs1799834
|
0.00001
|
NM_000492.4(CFTR):c.978A>G (p.Ala326=)
|
rs757622174
|
0.00001
|
NM_000492.4(CFTR):c.979C>T (p.Leu327=)
|
rs1360839108
|
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
|
A445E
|
|
|
CFTR, GLN524HIS
|
|
|
Multiple alleles
|
|
|
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)del
|
|
|
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
|
|
|
NC_000007.13:g.(117120202_117144306)_(117149197_117170952)del
|
|
|
NC_000007.13:g.(117120202_117144306)_(117188878_117199517)del
|
|
|
NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
|
|
|
NC_000007.13:g.(117149197_117170952)_(117180401_117182069)del
|
|
|
NC_000007.13:g.(117149197_117170952)_(117199710_117227792)del
|
|
|
NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup
|
|
|
NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del
|
|
|
NC_000007.13:g.(117174420_117175301)_(117175466_117176601)dup
|
|
|
NC_000007.13:g.(117175466_117176601)_(117199710_117227792)dup
|
|
|
NC_000007.13:g.(117176728_117180153)_(117180401_117182069)dup
|
|
|
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del
|
|
|
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)del
|
|
|
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
|
|
|
NC_000007.13:g.(117199710_117227792)_(117254768_117267575)del
|
|
|
NC_000007.13:g.(117230494_117231987)_(117232712_117234983)dup
|
|
|
NC_000007.13:g.(117235113_117242879)_(117242918_117243585)dup
|
|
|
NC_000007.13:g.(117242918_117243585)_(117243837_117246727)dup
|
|
|
NC_000007.13:g.(117243837_117246727)_(117246808_117250572)dup
|
|
|
NC_000007.13:g.(117243837_117246727)_(117254768_117267575)dup
|
|
|
NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
|
|
|
NC_000007.13:g.(117246808_117250572)_(117251863_117254666)del
|
|
|
NC_000007.13:g.(117251863_117254666)_(117254768_117267575)dup
|
|
|
NC_000007.13:g.(117254768_117267575)_(117267825_117282491)dup
|
|
|
NC_000007.13:g.(117292986_117304741)_(117304915_117305512)dup
|
|
|
NC_000007.13:g.(117292986_117304741)_(117305619_117306961)del
|
|
|
NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
|
|
|
NC_000007.13:g.(?_117118376)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117120016)_(117120202_117144306)del
|
|
|
NC_000007.13:g.(?_117120078)_(117308720_?)del
|
|
|
NC_000007.13:g.(?_117120136)_(117199729_?)del
|
|
|
NC_000007.13:g.(?_117120137)_(117173634_?)del
|
|
|
NC_000007.13:g.(?_117144294)_(117254777_?)dup
|
|
|
NC_000007.13:g.(?_117170943)_(117171255_?)del
|
|
|
NC_000007.13:g.(?_117170943)_(117182242_?)del
|
|
|
NC_000007.13:g.(?_117170943)_(117243859_?)dup
|
|
|
NC_000007.13:g.(?_117174320)_(117176752_?)del
|
|
|
NC_000007.13:g.(?_117176588)_(117176752_?)del
|
|
|
NC_000007.13:g.(?_117199476)_(117199720_?)del
|
|
|
NC_000007.13:g.(?_117199476)_(117280016_?)dup
|
|
|
NC_000007.13:g.(?_117199498)_(117199729_?)dup
|
|
|
NC_000007.13:g.(?_117218381)_(117254777_?)del
|
|
|
NC_000007.13:g.(?_117227774)_(117227921_?)del
|
|
|
NC_000007.13:g.(?_117234961)_(117235122_?)del
|
|
|
NC_000007.13:g.(?_117234964)_(117267864_?)dup
|
|
|
NC_000007.13:g.(?_117246713)_(117251872_?)del
|
|
|
NC_000007.13:g.(?_117254648)_(117254777_?)del
|
|
|
NC_000007.13:g.(?_117266272)_(117292995_?)del
|
|
|
NC_000007.13:g.(?_117267556)_(117267869_?)del
|
|
|
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.(?_117282468)_(117288374_?)del
|
|
|
NC_000007.13:g.(?_117292849)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117304664)_(117306195_?)del
|
|
|
NC_000007.13:g.(?_117304722)_(117305638_?)del
|
|
|
NC_000007.13:g.(?_117304722)_(117307162_?)dup
|
|
|
NC_000007.13:g.117188661_117188689=
|
|
|
NC_000007.13:g.117243773_117243774insLINE
|
|
|
NC_000007.14:g.(117606754_117610518)_(117614714_117627521)del
|
|
|
NC_000007.14:g.(?_117478787)_(117480271_?)del
|
|
|
NC_000007.14:g.(?_117504233)_(117504391_?)del
|
|
|
NC_000007.14:g.(?_117504240)_(117509152_?)del
|
|
|
NC_000007.14:g.(?_117504240)_(117531201_?)del
|
|
|
NC_000007.14:g.(?_117504243)_(117509152_?)del
|
|
|
NC_000007.14:g.(?_117504253)_(117509142_?)del
|
|
|
NC_000007.14:g.(?_117509024)_(117509152_?)dup
|
|
|
NC_000007.14:g.(?_117530879)_(117535431_?)del
|
|
|
NC_000007.14:g.(?_117530879)_(117559675_?)del
|
|
|
NC_000007.14:g.(?_117530889)_(117540356_?)del
|
|
|
NC_000007.14:g.(?_117530893)_(117559661_?)del
|
|
|
NC_000007.14:g.(?_117548631)_(117548835_?)del
|
|
|
NC_000007.14:g.(?_117587719)_(117587867_?)del
|
|
|
NC_000007.14:g.(?_117587720)_(117614723_?)del
|
|
|
NC_000007.14:g.(?_117602729)_(117611828_?)del
|
|
|
NC_000007.14:g.(?_117602793)_(117611818_?)del
|
|
|
NC_000007.14:g.(?_117606659)_(117606786_?)del
|
|
|
NC_000007.14:g.(?_117606659)_(117614723_?)dup
|
|
|
NC_000007.14:g.(?_117610509)_(117611818_?)del
|
|
|
NC_000007.14:g.(?_117610509)_(117614723_?)del
|
|
|
NC_000007.14:g.(?_117614593)_(117614733_?)del
|
|
|
NC_000007.14:g.(?_117614603)_(117614764_?)del
|
|
|
NC_000007.14:g.(?_117664660)_(117665584_?)del
|
|
|
NC_000007.14:g.(?_117664678)_(117665574_?)del
|
|
|
NC_000007.14:g.(?_117664682)_(117665570_?)del
|
|
|
NC_000007.14:g.117479234del
|
rs4148683
|
|
NC_000007.14:g.117479900C>A
|
|
|
NC_000007.14:g.117530899del
|
|
|
NC_000007.14:g.117660798_117670251delinsTAACT
|
|
|
NC_000007.14:g.117664688_117667108del
|
|
|
NG_016465.3:g.(37526_37529)_(58606_58609)del
|
|
|
NG_016465.4:g.13126_48866dup
|
|
|
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
|
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
|
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
|
|
|
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del
|
|
|
NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del
|
|
|
NM_000492.3(CFTR):c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del
|
|
|
NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del
|
|
|
NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del
|
|
|
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del
|
|
|
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del
|
|
|
NM_000492.3(CFTR):c.(273+1_274-1)_(1679+1_1680-1)del
|
|
|
NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del
|
|
|
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del
|
|
|
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del
|
|
|
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
|
|
|
NM_000492.3(CFTR):c.(3367+1_3368-1)_(3468+1_3469-1)del
|
|
|
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.(3873+1_3874-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del
|
|
|
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del
|
|
|
NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup
|
|
|
NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del
|
|
|
NM_000492.3(CFTR):c.-232G>T
|
|
|
NM_000492.3(CFTR):c.-234T>A
|
rs982968807
|
|
NM_000492.3(CFTR):c.-288G>C
|
rs139688774
|
|
NM_000492.3(CFTR):c.-495C>T
|
rs397507565
|
|
NM_000492.3(CFTR):c.-507A>G
|
|
|
NM_000492.3(CFTR):c.-512C>G
|
|
|
NM_000492.3(CFTR):c.-600dup
|
rs747238661
|
|
NM_000492.3(CFTR):c.-674T>C
|
rs1554372953
|
|
NM_000492.3(CFTR):c.-85C>G
|
rs530414231
|
|
NM_000492.3(CFTR):c.-887_-885del
|
rs397507564
|
|
NM_000492.3(CFTR):c.-893_-891del
|
rs780557040
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-17_1210-12del
|
rs3832534
|
|
NM_000492.3(CFTR):c.13196C>T
|
rs1554398510
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs)
|
rs121908780
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs)
|
rs1554391033
|
|
NM_000492.3(CFTR):c.2909_2924dup
|
|
|
NM_000492.3(CFTR):c.2909delG
|
rs397508458
|
|
NM_000492.3(CFTR):c.2989_3139del151
|
rs1562914028
|
|
NM_000492.3(CFTR):c.3376_3381delGAAGGA
|
rs1554392764
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.3(CFTR):c.3965_3969dup
|
rs1209386423
|
|
NM_000492.3(CFTR):c.4_53+69del119ins299
|
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
NM_000492.3(CFTR):c.54_164del111
|
rs1562882675
|
|
NM_000492.3(CFTR):c.744-?_1584+?dup
|
|
|
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
|
|
|
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
|
|
|
NM_000492.3(CFTR):c.[1397C>G;3209G>A]
|
|
|
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]
|
|
|
NM_000492.3(CFTR):c.[2735C>T;3731G>T]
|
|
|
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
|
|
|
NM_000492.3(CFTR):c.[350G>A;1210-12[5]]
|
|
|
NM_000492.3:c.(273+1_274-1)_(1584+1_1585-1)del
|
|
|
NM_000492.3:c.(?_-1)_(*1_?)del
|
|
|
NM_000492.3:c.1210-12T[(5_9)]
|
|
|
NM_000492.3:c.1585-?_1766+?del
|
|
|
NM_000492.3:c.274-?_1584+?dup
|
|
|
NM_000492.3:c.2989-?_3367+?del
|
|
|
NM_000492.3:c.2989-?_3468+?del
|
|
|
NM_000492.3:c.54-5842_489+401del
|
|
|
NM_000492.3:c.54-?_164+?del
|
|
|
NM_000492.3:c.54_273del
|
|
|
NM_000492.3:c.743+416_1584+2988dup
|
|
|
NM_000492.3:c.870-?_1584+?del
|
|
|
NM_000492.4(CFTR):c.*133del
|
rs145697705
|
|
NM_000492.4(CFTR):c.*133dup
|
rs145697705
|
|
NM_000492.4(CFTR):c.*5C>T
|
|
|
NM_000492.4(CFTR):c.*80T>G
|
rs397508135
|
|
NM_000492.4(CFTR):c.*842del
|
rs886061953
|
|
NM_000492.4(CFTR):c.-11C>T
|
rs1797976181
|
|
NM_000492.4(CFTR):c.-13C>A
|
|
|
NM_000492.4(CFTR):c.-1C>G
|
|
|
NM_000492.4(CFTR):c.-2C>T
|
rs770363945
|
|
NM_000492.4(CFTR):c.-34C>T
|
rs756314710
|
|
NM_000492.4(CFTR):c.-439G>A
|
rs1797962499
|
|
NM_000492.4(CFTR):c.-7A>T
|
|
|
NM_000492.4(CFTR):c.-8G>A
|
rs1800501
|
|
NM_000492.4(CFTR):c.-8GA[4]
|
rs1554373081
|
|
NM_000492.4(CFTR):c.-939A>G
|
rs1584763860
|
|
NM_000492.4(CFTR):c.-9_14del (p.Met1fs)
|
rs397508136
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.1008_1019dup (p.Phe337_Ile340dup)
|
rs397508140
|
|
NM_000492.4(CFTR):c.1009T>C (p.Phe337Leu)
|
rs771716655
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1011C>G (p.Phe337Leu)
|
rs1799029121
|
|
NM_000492.4(CFTR):c.1012A>G (p.Thr338Ala)
|
rs397508142
|
|
NM_000492.4(CFTR):c.1012_1013del (p.Thr338fs)
|
|
|
NM_000492.4(CFTR):c.1014C>A (p.Thr338=)
|
|
|
NM_000492.4(CFTR):c.1016C>A (p.Thr339Asn)
|
|
|
NM_000492.4(CFTR):c.1016C>G (p.Thr339Ser)
|
|
|
NM_000492.4(CFTR):c.1017C>T (p.Thr339=)
|
rs1359708278
|
|
NM_000492.4(CFTR):c.1018A>G (p.Ile340Val)
|
|
|
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn)
|
rs1554381352
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1028G>T (p.Cys343Phe)
|
|
|
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
NM_000492.4(CFTR):c.1032T>C (p.Ile344=)
|
|
|
NM_000492.4(CFTR):c.1035T>C (p.Val345=)
|
|
|
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)
|
rs397508146
|
|
NM_000492.4(CFTR):c.1038G>A (p.Leu346=)
|
rs2116684331
|
|
NM_000492.4(CFTR):c.1039C>A (p.Arg347Ser)
|
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1041C>G (p.Arg347=)
|
rs2116684356
|
|
NM_000492.4(CFTR):c.1043T>C (p.Met348Thr)
|
|
|
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)
|
rs1562892293
|
|
NM_000492.4(CFTR):c.1047G>T (p.Ala349=)
|
rs200520623
|
|
NM_000492.4(CFTR):c.1050C>T (p.Val350=)
|
|
|
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.1057C>T (p.Gln353Ter)
|
rs397508148
|
|
NM_000492.4(CFTR):c.1058A>G (p.Gln353Arg)
|
|
|
NM_000492.4(CFTR):c.1059A>C (p.Gln353His)
|
rs1800087
|
|
NM_000492.4(CFTR):c.1059A>G (p.Gln353=)
|
rs1800087
|
|
NM_000492.4(CFTR):c.105A>C (p.Ser35=)
|
rs2116635193
|
|
NM_000492.4(CFTR):c.105dup (p.Asp36fs)
|
rs397508149
|
|
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.1068G>A (p.Trp356Ter)
|
rs397508150
|
|
NM_000492.4(CFTR):c.1069del (p.Ala357fs)
|
rs397508151
|
|
NM_000492.4(CFTR):c.1071T>C (p.Ala357=)
|
|
|
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
|
|
|
NM_000492.4(CFTR):c.1074A>G (p.Val358=)
|
rs200708728
|
|
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)
|
rs76879328
|
|
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys)
|
rs397508152
|
|
NM_000492.4(CFTR):c.1077A>G (p.Gln359=)
|
rs761324191
|
|
NM_000492.4(CFTR):c.1078del (p.Thr360fs)
|
|
|
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys)
|
rs75053309
|
|
NM_000492.4(CFTR):c.1079C>T (p.Thr360Ile)
|
|
|
NM_000492.4(CFTR):c.1080A>G (p.Thr360=)
|
rs201246833
|
|
NM_000492.4(CFTR):c.1080del (p.Trp361fs)
|
|
|
NM_000492.4(CFTR):c.1081T>A (p.Trp361Arg)
|
rs397508154
|
|
NM_000492.4(CFTR):c.1083del (p.Trp361fs)
|
rs387906375
|
|
NM_000492.4(CFTR):c.1084T>C (p.Tyr362His)
|
|
|
NM_000492.4(CFTR):c.1084T>G (p.Tyr362Asp)
|
|
|
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs)
|
rs1562892359
|
|
NM_000492.4(CFTR):c.1085A>G (p.Tyr362Cys)
|
|
|
NM_000492.4(CFTR):c.1086T>A (p.Tyr362Ter)
|
rs397508155
|
|
NM_000492.4(CFTR):c.1086T>G (p.Tyr362Ter)
|
rs397508155
|
|
NM_000492.4(CFTR):c.108C>T (p.Asp36=)
|
|
|
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
|
|
|
NM_000492.4(CFTR):c.1092T>A (p.Ser364=)
|
rs1584789482
|
|
NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs)
|
rs387906365
|
|
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)
|
rs76727851
|
|
NM_000492.4(CFTR):c.1095T>A (p.Leu365=)
|
|
|
NM_000492.4(CFTR):c.1098A>T (p.Gly366=)
|
|
|
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.1106_1111dup (p.Asn369_Lys370dup)
|
rs397508156
|
|
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.1115del (p.Gln372fs)
|
rs1562892387
|
|
NM_000492.4(CFTR):c.1116+12T>G
|
|
|
NM_000492.4(CFTR):c.1116+15T>A
|
|
|
NM_000492.4(CFTR):c.1116+18T>C
|
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+1G>C
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+1G>T
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+2T>A
|
|
|
NM_000492.4(CFTR):c.1116+2T>C
|
|
|
NM_000492.4(CFTR):c.1116+6G>A
|
|
|
NM_000492.4(CFTR):c.1116+7T>C
|
rs200659687
|
|
NM_000492.4(CFTR):c.1116G>T (p.Gln372His)
|
rs1584789514
|
|
NM_000492.4(CFTR):c.1117-12T>C
|
|
|
NM_000492.4(CFTR):c.1117-15C>G
|
|
|
NM_000492.4(CFTR):c.1117-17C>T
|
|
|
NM_000492.4(CFTR):c.1117-1G>A
|
rs797045160
|
|
NM_000492.4(CFTR):c.1117-220_1117-4del
|
rs2115881246
|
|
NM_000492.4(CFTR):c.1117-26_1117-25del
|
rs397508159
|
|
NM_000492.4(CFTR):c.1117-2A>G
|
rs1554381596
|
|
NM_000492.4(CFTR):c.1117-4A>G
|
rs1799060630
|
|
NM_000492.4(CFTR):c.1117-5A>G
|
rs397508161
|
|
NM_000492.4(CFTR):c.1117-64G>A
|
|
|
NM_000492.4(CFTR):c.1117-64G>C
|
|
|
NM_000492.4(CFTR):c.1117-6A>G
|
|
|
NM_000492.4(CFTR):c.1117-8A>G
|
rs897417102
|
|
NM_000492.4(CFTR):c.1117-9T>C
|
|
|
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.1126C>T (p.Gln376Ter)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
|
|
|
NM_000492.4(CFTR):c.112_113del (p.Tyr38fs)
|
rs397508162
|
|
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)
|
rs397508163
|
|
NM_000492.4(CFTR):c.1131G>A (p.Lys377=)
|
|
|
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter)
|
rs2115882158
|
|
NM_000492.4(CFTR):c.1135G>A (p.Glu379Lys)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1136A>G (p.Glu379Gly)
|
|
|
NM_000492.4(CFTR):c.1137A>G (p.Glu379=)
|
|
|
NM_000492.4(CFTR):c.113A>G (p.Tyr38Cys)
|
|
|
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
|
|
|
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)
|
rs1554381605
|
|
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
|
|
|
NM_000492.4(CFTR):c.1146A>C (p.Thr382=)
|
|
|
NM_000492.4(CFTR):c.1146A>G (p.Thr382=)
|
|
|
NM_000492.4(CFTR):c.1146A>T (p.Thr382=)
|
|
|
NM_000492.4(CFTR):c.1147T>C (p.Leu383=)
|
|
|
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser)
|
rs397508166
|
|
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)
|
rs193922498
|
|
NM_000492.4(CFTR):c.114C>T (p.Tyr38=)
|
|
|
NM_000492.4(CFTR):c.1150G>A (p.Glu384Lys)
|
|
|
NM_000492.4(CFTR):c.1152A>G (p.Glu384=)
|
|
|
NM_000492.4(CFTR):c.1152del (p.Glu384fs)
|
rs397508167
|
|
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.1155T>A (p.Tyr385Ter)
|
|
|
NM_000492.4(CFTR):c.1155T>C (p.Tyr385=)
|
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
NM_000492.4(CFTR):c.1158C>T (p.Asn386=)
|
|
|
NM_000492.4(CFTR):c.1159T>C (p.Leu387=)
|
rs2115882338
|
|
NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs)
|
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
NM_000492.4(CFTR):c.1161A>C (p.Leu387Phe)
|
|
|
NM_000492.4(CFTR):c.1161A>G (p.Leu387=)
|
rs1799062301
|
|
NM_000492.4(CFTR):c.1162_1168del (p.Thr388fs)
|
rs397508169
|
|
NM_000492.4(CFTR):c.1164G>T (p.Thr388=)
|
rs1800088
|
|
NM_000492.4(CFTR):c.1165A>T (p.Thr389Ser)
|
|
|
NM_000492.4(CFTR):c.1166C>T (p.Thr389Ile)
|
|
|
NM_000492.4(CFTR):c.1167T>C (p.Thr389=)
|
rs2115882403
|
|
NM_000492.4(CFTR):c.116A>C (p.Gln39Pro)
|
|
|
NM_000492.4(CFTR):c.1170A>C (p.Thr390=)
|
rs2115882431
|
|
NM_000492.4(CFTR):c.1170A>G (p.Thr390=)
|
|
|
NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)
|
|
|
NM_000492.4(CFTR):c.1171_1209+6del
|
|
|
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1176A>G (p.Val392=)
|
rs542860881
|
|
NM_000492.4(CFTR):c.1177G>A (p.Val393Met)
|
|
|
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu)
|
rs1562892874
|
|
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer)
|
rs397508171
|
|
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.1185G>A (p.Glu395=)
|
|
|
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.1189del (p.Asn396_Val397insTer)
|
|
|
NM_000492.4(CFTR):c.1191A>T (p.Val397=)
|
|
|
NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys)
|
|
|
NM_000492.4(CFTR):c.1193C>T (p.Thr398Ile)
|
|
|
NM_000492.4(CFTR):c.1196C>A (p.Ala399Asp)
|
rs146463120
|
|
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)
|
rs146463120
|
|
NM_000492.4(CFTR):c.1197del (p.Phe400fs)
|
rs1562892895
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.11C>T (p.Ser4Leu)
|
|
|
NM_000492.4(CFTR):c.1201T>C (p.Trp401Arg)
|
|
|
NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter)
|
rs397508174
|
|
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter)
|
rs397508175
|
|
NM_000492.4(CFTR):c.1209+10T>C
|
|
|
NM_000492.4(CFTR):c.1209+11T>C
|
|
|
NM_000492.4(CFTR):c.1209+13A>T
|
|
|
NM_000492.4(CFTR):c.1209+15A>G
|
|
|
NM_000492.4(CFTR):c.1209+18A>C
|
rs193922499
|
|
NM_000492.4(CFTR):c.1209+18dup
|
|
|
NM_000492.4(CFTR):c.1209+1G>A
|
rs397508176
|
|
NM_000492.4(CFTR):c.1209+1G>C
|
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1209+2T>A
|
|
|
NM_000492.4(CFTR):c.1209+2T>G
|
rs1584790302
|
|
NM_000492.4(CFTR):c.1209+568A>G
|
|
|
NM_000492.4(CFTR):c.1209+80G>A
|
rs948980243
|
|
NM_000492.4(CFTR):c.1209+9T>G
|
|
|
NM_000492.4(CFTR):c.1209G>A (p.Glu403=)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)
|
|
|
NM_000492.4(CFTR):c.120C>T (p.Ile40=)
|
rs376538363
|
|
NM_000492.4(CFTR):c.1210-11_1210-10insGT
|
rs1584793368
|
|
NM_000492.4(CFTR):c.1210-11_1210-10insGTG
|
|
|
NM_000492.4(CFTR):c.1210-11_1210-10insGTGT
|
|
|
NM_000492.4(CFTR):c.1210-11_1210-9delinsG
|
rs2115902456
|
|
NM_000492.4(CFTR):c.1210-11delinsGTG
|
rs1584793368
|
|
NM_000492.4(CFTR):c.1210-11delinsGTGTG
|
|
|
NM_000492.4(CFTR):c.1210-12=
|
rs1805177
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTG
|
rs4148705
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTT
|
rs756031917
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTTT
|
rs756031917
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTT
|
rs756031917
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTTT
|
rs756031917
|
|
NM_000492.4(CFTR):c.1210-13_1210-10del
|
rs765376630
|
|
NM_000492.4(CFTR):c.1210-13_1210-11del
|
rs2115902247
|
|
NM_000492.4(CFTR):c.1210-13_1210-11dup
|
|
|
NM_000492.4(CFTR):c.1210-13_1210-8del
|
rs1399483116
|
|
NM_000492.4(CFTR):c.1210-14_1210-13insTT
|
|
|
NM_000492.4(CFTR):c.1210-15_1210-10del
|
rs2115902212
|
|
NM_000492.4(CFTR):c.1210-15_1210-13delinsT
|
rs1584793324
|
|
NM_000492.4(CFTR):c.1210-15_1210-13delinsTT
|
|
|
NM_000492.4(CFTR):c.1210-15_1210-13delinsTTT
|
|
|
NM_000492.4(CFTR):c.1210-17G>T
|
|
|
NM_000492.4(CFTR):c.1210-17_1210-10del
|
rs1799207704
|
|
NM_000492.4(CFTR):c.1210-17_1210-11del
|
rs2115902199
|
|
NM_000492.4(CFTR):c.1210-17_1210-13delinsTTT
|
|
|
NM_000492.4(CFTR):c.1210-19G>A
|
|
|
NM_000492.4(CFTR):c.1210-1G>C
|
rs397508178
|
|
NM_000492.4(CFTR):c.1210-2A>C
|
rs397508179
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
NM_000492.4(CFTR):c.1210-307GT[14]
|
rs3034794
|
|
NM_000492.4(CFTR):c.1210-30T>G
|
|
|
NM_000492.4(CFTR):c.1210-34=
|
|
|
NM_000492.4(CFTR):c.1210-34TG[10]
|
rs3832534
|
|
NM_000492.4(CFTR):c.1210-34TG[12]
|
rs3832534
|
|
NM_000492.4(CFTR):c.1210-34TG[13]
|
rs3832534
|
|
NM_000492.4(CFTR):c.1210-34TG[9]
|
rs3832534
|
|
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.1210-6dup
|
rs1805177
|
|
NM_000492.4(CFTR):c.1210-9_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.1211_1392+1del
|
rs1562894928
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1212A>T (p.Gly404=)
|
|
|
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu)
|
rs559197407
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)
|
rs397508180
|
|
NM_000492.4(CFTR):c.1221A>G (p.Glu407=)
|
rs2115902714
|
|
NM_000492.4(CFTR):c.1221del (p.Glu407fs)
|
|
|
NM_000492.4(CFTR):c.1222T>C (p.Leu408=)
|
|
|
NM_000492.4(CFTR):c.1224_1227del (p.Phe409fs)
|
|
|
NM_000492.4(CFTR):c.122C>G (p.Pro41Arg)
|
|
|
NM_000492.4(CFTR):c.1234G>T (p.Ala412Ser)
|
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
NM_000492.4(CFTR):c.1234del (p.Ala412fs)
|
rs397508181
|
|
NM_000492.4(CFTR):c.1235del (p.Ala412fs)
|
rs397508182
|
|
NM_000492.4(CFTR):c.123T>C (p.Pro41=)
|
rs1798379857
|
|
NM_000492.4(CFTR):c.1240C>A (p.Gln414Lys)
|
|
|
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)
|
rs397508183
|
|
NM_000492.4(CFTR):c.1243A>G (p.Asn415Asp)
|
|
|
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer)
|
rs397508184
|
|
NM_000492.4(CFTR):c.1244del (p.Asn415fs)
|
|
|
NM_000492.4(CFTR):c.1245C>T (p.Asn415=)
|
|
|
NM_000492.4(CFTR):c.1245_1247del (p.Asn418del)
|
rs1554382616
|
|
NM_000492.4(CFTR):c.1248T>C (p.Asn416=)
|
|
|
NM_000492.4(CFTR):c.1248dup (p.Asn417Ter)
|
rs1584793451
|
|
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.1261dup (p.Thr421fs)
|
rs2115903081
|
|
NM_000492.4(CFTR):c.1263T>C (p.Thr421=)
|
|
|
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.1269T>C (p.Asn423=)
|
rs376039579
|
|
NM_000492.4(CFTR):c.1272T>C (p.Gly424=)
|
rs2115903186
|
|
NM_000492.4(CFTR):c.1272T>G (p.Gly424=)
|
|
|
NM_000492.4(CFTR):c.1275T>C (p.Asp425=)
|
rs1562895009
|
|
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.1284C>G (p.Leu428=)
|
|
|
NM_000492.4(CFTR):c.1287C>A (p.Phe429Leu)
|
rs763577850
|
|
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
|
|
|
NM_000492.4(CFTR):c.1290del (p.Phe430fs)
|
|
|
NM_000492.4(CFTR):c.1291A>C (p.Ser431Arg)
|
|
|
NM_000492.4(CFTR):c.1295A>G (p.Asn432Ser)
|
|
|
NM_000492.4(CFTR):c.1296T>C (p.Asn432=)
|
|
|
NM_000492.4(CFTR):c.1299C>A (p.Phe433Leu)
|
rs11531593
|
|
NM_000492.4(CFTR):c.1299C>T (p.Phe433=)
|
|
|
NM_000492.4(CFTR):c.12G>T (p.Ser4=)
|
rs1158877973
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs)
|
rs397508186
|
|
NM_000492.4(CFTR):c.1302A>G (p.Ser434=)
|
|
|
NM_000492.4(CFTR):c.1303C>G (p.Leu435Val)
|
|
|
NM_000492.4(CFTR):c.1304T>C (p.Leu435Pro)
|
|
|
NM_000492.4(CFTR):c.1305T>C (p.Leu435=)
|
|
|
NM_000492.4(CFTR):c.1308T>G (p.Leu436=)
|
|
|
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>C (p.Pro439=)
|
rs1562895052
|
|
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.1319_1323del (p.Val440fs)
|
|
|
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly)
|
rs1800074
|
|
NM_000492.4(CFTR):c.131A>T (p.Asp44Val)
|
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.1324A>T (p.Lys442Ter)
|
rs1584793546
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1328A>T (p.Asp443Val)
|
|
|
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs)
|
rs1562895066
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1331T>G (p.Ile444Ser)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1332T>C (p.Ile444=)
|
|
|
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met)
|
rs1799214404
|
|
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs)
|
rs749854099
|
|
NM_000492.4(CFTR):c.1334del (p.Asn445fs)
|
rs2115903565
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
NM_000492.4(CFTR):c.1341G>A (p.Lys447=)
|
|
|
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.1347_1350del (p.Arg450fs)
|
rs1562895104
|
|
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.1353A>G (p.Gly451=)
|
rs1220983447
|
|
NM_000492.4(CFTR):c.1355A>C (p.Gln452Pro)
|
rs397508193
|
|
NM_000492.4(CFTR):c.1356G>A (p.Gln452=)
|
|
|
NM_000492.4(CFTR):c.1358T>C (p.Leu453Ser)
|
rs1562895128
|
|
NM_000492.4(CFTR):c.1359G>A (p.Leu453=)
|
|
|
NM_000492.4(CFTR):c.135T>A (p.Ser45=)
|
|
|
NM_000492.4(CFTR):c.135T>G (p.Ser45=)
|
|
|
NM_000492.4(CFTR):c.1360_1381delinsATAGAAA
|
rs1554382656
|
|
NM_000492.4(CFTR):c.1362G>A (p.Leu454=)
|
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)
|
rs797045161
|
|
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)
|
rs397508195
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1368del (p.Ala457fs)
|
|
|
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.1371T>C (p.Ala457=)
|
|
|
NM_000492.4(CFTR):c.1371T>G (p.Ala457=)
|
|
|
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val)
|
rs121909009
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
NM_000492.4(CFTR):c.1376C>T (p.Ser459Phe)
|
|
|
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)
|
rs151020603
|
|
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr)
|
rs1799216405
|
|
NM_000492.4(CFTR):c.1386A>G (p.Ala462=)
|
|
|
NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp)
|
rs1163866901
|
|
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
|
|
|
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)
|
rs1799216615
|
|
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr)
|
rs1584793633
|
|
NM_000492.4(CFTR):c.1392+11T>C
|
|
|
NM_000492.4(CFTR):c.1392+11del
|
|
|
NM_000492.4(CFTR):c.1392+12del
|
|
|
NM_000492.4(CFTR):c.1392+1498G>A
|
|
|
NM_000492.4(CFTR):c.1392+14T>G
|
|
|
NM_000492.4(CFTR):c.1392+15C>G
|
|
|
NM_000492.4(CFTR):c.1392+16T>A
|
|
|
NM_000492.4(CFTR):c.1392+19A>G
|
|
|
NM_000492.4(CFTR):c.1392+19A>T
|
|
|
NM_000492.4(CFTR):c.1392+1G>A
|
rs397508197
|
|
NM_000492.4(CFTR):c.1392+2787A>G
|
|
|
NM_000492.4(CFTR):c.1392+60dup
|
rs746240178
|
|
NM_000492.4(CFTR):c.1392+7C>T
|
|
|
NM_000492.4(CFTR):c.1392+9T>C
|
|
|
NM_000492.4(CFTR):c.1392G>A (p.Lys464=)
|
|
|
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)
|
rs397508198
|
|
NM_000492.4(CFTR):c.1393-10T>C
|
rs1799416100
|
|
NM_000492.4(CFTR):c.1393-18G>A
|
rs397508199
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1393-2042A>G
|
|
|
NM_000492.4(CFTR):c.1393-20A>G
|
|
|
NM_000492.4(CFTR):c.1393-26_1393-16del
|
|
|
NM_000492.4(CFTR):c.1393-3C>A
|
|
|
NM_000492.4(CFTR):c.1393-4C>A
|
rs1799416194
|
|
NM_000492.4(CFTR):c.1393-4C>G
|
rs1799416194
|
|
NM_000492.4(CFTR):c.1393-4C>T
|
|
|
NM_000492.4(CFTR):c.1393-565G>T
|
|
|
NM_000492.4(CFTR):c.1393-6T>C
|
rs966524603
|
|
NM_000492.4(CFTR):c.1393-8A>T
|
rs2115937364
|
|
NM_000492.4(CFTR):c.1394C>T (p.Thr465Ile)
|
|
|
NM_000492.4(CFTR):c.1395T>C (p.Thr465=)
|
|
|
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)
|
|
|
NM_000492.4(CFTR):c.1401T>C (p.Leu467=)
|
|
|
NM_000492.4(CFTR):c.1402C>T (p.Leu468=)
|
|
|
NM_000492.4(CFTR):c.1403T>C (p.Leu468Pro)
|
rs397508202
|
|
NM_000492.4(CFTR):c.1405A>T (p.Met469Leu)
|
|
|
NM_000492.4(CFTR):c.1409T>A (p.Val470Glu)
|
rs1261167416
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
|
|
|
NM_000492.4(CFTR):c.1414A>G (p.Met472Val)
|
|
|
NM_000492.4(CFTR):c.1415dup (p.Met472fs)
|
rs1554384343
|
|
NM_000492.4(CFTR):c.1417G>A (p.Gly473Arg)
|
rs1799417518
|
|
NM_000492.4(CFTR):c.1418del (p.Gly473fs)
|
rs397508205
|
|
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)
|
rs756206533
|
|
NM_000492.4(CFTR):c.1420G>C (p.Glu474Gln)
|
|
|
NM_000492.4(CFTR):c.1420G>T (p.Glu474Ter)
|
rs756206533
|
|
NM_000492.4(CFTR):c.1422A>G (p.Glu474=)
|
rs1222883922
|
|
NM_000492.4(CFTR):c.1423C>G (p.Leu475Val)
|
|
|
NM_000492.4(CFTR):c.1423C>T (p.Leu475=)
|
|
|
NM_000492.4(CFTR):c.1428G>A (p.Glu476=)
|
|
|
NM_000492.4(CFTR):c.142_145del (p.Asn48fs)
|
|
|
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu)
|
rs886044297
|
|
NM_000492.4(CFTR):c.1431T>C (p.Pro477=)
|
|
|
NM_000492.4(CFTR):c.1433C>T (p.Ser478Leu)
|
|
|
NM_000492.4(CFTR):c.1434A>C (p.Ser478=)
|
|
|
NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter)
|
rs397508207
|
|
NM_000492.4(CFTR):c.1437G>A (p.Glu479=)
|
rs754152822
|
|
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.1446dup (p.Lys483Ter)
|
rs397508209
|
|
NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter)
|
rs1799418948
|
|
NM_000492.4(CFTR):c.1449G>A (p.Lys483=)
|
|
|
NM_000492.4(CFTR):c.1451A>G (p.His484Arg)
|
rs1427892651
|
|
NM_000492.4(CFTR):c.1452C>T (p.His484=)
|
|
|
NM_000492.4(CFTR):c.1455T>C (p.Ser485=)
|
|
|
NM_000492.4(CFTR):c.1458A>G (p.Gly486=)
|
|
|
NM_000492.4(CFTR):c.1464T>C (p.Ile488=)
|
rs1799419575
|
|
NM_000492.4(CFTR):c.1464_1476del (p.Cys491fs)
|
rs2115937867
|
|
NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs)
|
rs2115937855
|
|
NM_000492.4(CFTR):c.1467A>G (p.Ser489=)
|
rs1799419729
|
|
NM_000492.4(CFTR):c.1469del (p.Phe490fs)
|
rs775663783
|
|
NM_000492.4(CFTR):c.1470C>T (p.Phe490=)
|
rs1799420001
|
|
NM_000492.4(CFTR):c.1471T>C (p.Cys491Arg)
|
rs397508213
|
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
NM_000492.4(CFTR):c.1472_1482del (p.Cys491fs)
|
|
|
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)
|
rs121908775
|
|
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro)
|
rs397508214
|
|
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
|
|
|
NM_000492.4(CFTR):c.1479G>A (p.Gln493=)
|
|
|
NM_000492.4(CFTR):c.147A>C (p.Leu49=)
|
|
|
NM_000492.4(CFTR):c.147_150del (p.Ser50fs)
|
rs1562882755
|
|
NM_000492.4(CFTR):c.1480T>G (p.Phe494Val)
|
|
|
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
|
|
|
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.1485C>G (p.Ser495=)
|
|
|
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)
|
rs1554384382
|
|
NM_000492.4(CFTR):c.1486del (p.Trp496fs)
|
rs1584798316
|
|
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)
|
rs397508216
|
|
NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter)
|
rs200626971
|
|
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro)
|
rs397508217
|
|
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.14C>G (p.Pro5Arg)
|
|
|
NM_000492.4(CFTR):c.1500C>G (p.Gly500=)
|
|
|
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)
|
rs397508221
|
|
NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile)
|
rs1799421850
|
|
NM_000492.4(CFTR):c.1503C>T (p.Thr501=)
|
|
|
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn)
|
rs397508222
|
|
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser)
|
rs397508222
|
|
NM_000492.4(CFTR):c.1507A>G (p.Lys503Glu)
|
|
|
NM_000492.4(CFTR):c.1509A>G (p.Lys503=)
|
|
|
NM_000492.4(CFTR):c.150T>G (p.Ser50=)
|
rs2116635296
|
|
NM_000492.4(CFTR):c.1510G>C (p.Glu504Gln)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1515T>C (p.Asn505=)
|
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)
|
|
|
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser)
|
rs397508224
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe)
|
rs1801178
|
|
NM_000492.4(CFTR):c.1524T>C (p.Phe508=)
|
|
|
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg)
|
rs1562898465
|
|
NM_000492.4(CFTR):c.1526G>T (p.Gly509Val)
|
|
|
NM_000492.4(CFTR):c.1528G>A (p.Val510Ile)
|
|
|
NM_000492.4(CFTR):c.1528G>T (p.Val510Phe)
|
rs752955846
|
|
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs)
|
rs1562898471
|
|
NM_000492.4(CFTR):c.1535A>G (p.Tyr512Cys)
|
rs1048256995
|
|
NM_000492.4(CFTR):c.1536T>C (p.Tyr512=)
|
rs2115938553
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1539T>C (p.Asp513=)
|
|
|
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter)
|
rs1799425190
|
|
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.1542A>G (p.Glu514=)
|
|
|
NM_000492.4(CFTR):c.1543T>G (p.Tyr515Asp)
|
|
|
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs)
|
rs1301983423
|
|
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)
|
rs121908776
|
|
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)
|
rs397508226
|
|
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs)
|
rs1562898489
|
|
NM_000492.4(CFTR):c.1547G>T (p.Arg516Ile)
|
|
|
NM_000492.4(CFTR):c.1547_1550del (p.Arg516fs)
|
|
|
NM_000492.4(CFTR):c.154A>T (p.Lys52Ter)
|
|
|
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
|
|
|
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys)
|
rs1562898496
|
|
NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter)
|
rs2115938731
|
|
NM_000492.4(CFTR):c.1551C>T (p.Tyr517=)
|
|
|
NM_000492.4(CFTR):c.1557C>G (p.Ser519Arg)
|
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp)
|
rs1562898510
|
|
NM_000492.4(CFTR):c.155A>T (p.Lys52Ile)
|
|
|
NM_000492.4(CFTR):c.1560C>T (p.Val520=)
|
rs768151081
|
|
NM_000492.4(CFTR):c.1561A>C (p.Ile521Leu)
|
|
|
NM_000492.4(CFTR):c.1563C>G (p.Ile521Met)
|
|
|
NM_000492.4(CFTR):c.156_163dup (p.Arg55fs)
|
|
|
NM_000492.4(CFTR):c.156del (p.Lys52fs)
|
rs1346705436
|
|
NM_000492.4(CFTR):c.156dup (p.Leu53fs)
|
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)
|
rs397508227
|
|
NM_000492.4(CFTR):c.1573del (p.Gln525fs)
|
rs774433839
|
|
NM_000492.4(CFTR):c.1576C>T (p.Leu526=)
|
|
|
NM_000492.4(CFTR):c.1577T>C (p.Leu526Pro)
|
|
|
NM_000492.4(CFTR):c.1579G>T (p.Glu527Ter)
|
|
|
NM_000492.4(CFTR):c.1579_1584+11del
|
|
|
NM_000492.4(CFTR):c.157T>C (p.Leu53=)
|
|
|
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
|
|
|
NM_000492.4(CFTR):c.1584+1000del
|
|
|
NM_000492.4(CFTR):c.1584+10206A>G
|
|
|
NM_000492.4(CFTR):c.1584+10T>G
|
|
|
NM_000492.4(CFTR):c.1584+11_1584+13dup
|
rs1554384454
|
|
NM_000492.4(CFTR):c.1584+12309T>C
|
|
|
NM_000492.4(CFTR):c.1584+13G>A
|
|
|
NM_000492.4(CFTR):c.1584+15G>T
|
|
|
NM_000492.4(CFTR):c.1584+18A>C
|
|
|
NM_000492.4(CFTR):c.1584+19del
|
|
|
NM_000492.4(CFTR):c.1584+1G>T
|
rs397508230
|
|
NM_000492.4(CFTR):c.1584+2T>C
|
rs397508231
|
|
NM_000492.4(CFTR):c.1584+4639G>T
|
rs575943791
|
|
NM_000492.4(CFTR):c.1584+4A>T
|
rs953352440
|
|
NM_000492.4(CFTR):c.1584+53_1584+63dup
|
rs397508232
|
|
NM_000492.4(CFTR):c.1584+5G>C
|
|
|
NM_000492.4(CFTR):c.1584+6457A>C
|
|
|
NM_000492.4(CFTR):c.1584+9C>T
|
rs2115939119
|
|
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.1585-13846A>G
|
|
|
NM_000492.4(CFTR):c.1585-15T>G
|
|
|
NM_000492.4(CFTR):c.1585-2211A>T
|
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-2A>T
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-5A>C
|
|
|
NM_000492.4(CFTR):c.1585-7020G>A
|
|
|
NM_000492.4(CFTR):c.1585-7957A>G
|
rs145778105
|
|
NM_000492.4(CFTR):c.1585-7G>C
|
rs1367201083
|
|
NM_000492.4(CFTR):c.1585-7G>T
|
rs1367201083
|
|
NM_000492.4(CFTR):c.1585-8G>A
|
rs193922503
|
|
NM_000492.4(CFTR):c.1585-9218G>A
|
|
|
NM_000492.4(CFTR):c.1585-9T>A
|
rs397508234
|
|
NM_000492.4(CFTR):c.1585-9T>C
|
rs397508234
|
|
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn)
|
rs397508235
|
|
NM_000492.4(CFTR):c.1586A>G (p.Asp529Gly)
|
rs397508236
|
|
NM_000492.4(CFTR):c.1586_1679+1del
|
rs1562906265
|
|
NM_000492.4(CFTR):c.1588A>C (p.Ile530Leu)
|
rs397508237
|
|
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
|
|
|
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)
|
|
|
NM_000492.4(CFTR):c.1595A>G (p.Lys532Arg)
|
|
|
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu)
|
rs397508238
|
|
NM_000492.4(CFTR):c.159G>A (p.Leu53=)
|
rs2116635315
|
|
NM_000492.4(CFTR):c.15del (p.Leu6fs)
|
|
|
NM_000492.4(CFTR):c.1602A>G (p.Ala534=)
|
rs1584810152
|
|
NM_000492.4(CFTR):c.1603G>A (p.Glu535Lys)
|
|
|
NM_000492.4(CFTR):c.1605G>A (p.Glu535=)
|
|
|
NM_000492.4(CFTR):c.1606A>T (p.Lys536Ter)
|
rs148173473
|
|
NM_000492.4(CFTR):c.1610A>G (p.Asp537Gly)
|
|
|
NM_000492.4(CFTR):c.1611C>T (p.Asp537=)
|
|
|
NM_000492.4(CFTR):c.1611_1612del (p.Asp537fs)
|
rs397508239
|
|
NM_000492.4(CFTR):c.1612A>C (p.Asn538His)
|
|
|
NM_000492.4(CFTR):c.1615del (p.Asn538_Ile539insTer)
|
|
|
NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter)
|
rs1584810167
|
|
NM_000492.4(CFTR):c.1619T>C (p.Val540Ala)
|
|
|
NM_000492.4(CFTR):c.161A>C (p.Glu54Ala)
|
|
|
NM_000492.4(CFTR):c.161A>G (p.Glu54Gly)
|
|
|
NM_000492.4(CFTR):c.1620T>C (p.Val540=)
|
rs1791965009
|
|
NM_000492.4(CFTR):c.1622T>C (p.Leu541Pro)
|
|
|
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
|
|
|
NM_000492.4(CFTR):c.1625del (p.Gly542fs)
|
rs2116017718
|
|
NM_000492.4(CFTR):c.1626A>G (p.Gly542=)
|
rs2116017741
|
|
NM_000492.4(CFTR):c.1629A>G (p.Glu543=)
|
|
|
NM_000492.4(CFTR):c.1631G>T (p.Gly544Val)
|
rs397508241
|
|
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val)
|
rs1387755887
|
|
NM_000492.4(CFTR):c.1636A>C (p.Ile546Leu)
|
|
|
NM_000492.4(CFTR):c.1638C>T (p.Ile546=)
|
rs1476532238
|
|
NM_000492.4(CFTR):c.163A>G (p.Arg55Gly)
|
|
|
NM_000492.4(CFTR):c.164+10T>A
|
rs1310634696
|
|
NM_000492.4(CFTR):c.164+10T>C
|
rs1310634696
|
|
NM_000492.4(CFTR):c.164+10delinsATGA
|
|
|
NM_000492.4(CFTR):c.164+14C>G
|
|
|
NM_000492.4(CFTR):c.164+15A>G
|
|
|
NM_000492.4(CFTR):c.164+16T>C
|
|
|
NM_000492.4(CFTR):c.164+18G>A
|
|
|
NM_000492.4(CFTR):c.164+1G>A
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+1G>C
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+2T>A
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+2T>C
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.164+3A>G
|
|
|
NM_000492.4(CFTR):c.164+4dup
|
rs397508244
|
|
NM_000492.4(CFTR):c.164+5G>C
|
rs2116635341
|
|
NM_000492.4(CFTR):c.164+6T>C
|
|
|
NM_000492.4(CFTR):c.164+9A>G
|
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
NM_000492.4(CFTR):c.164+9_164+10insATG
|
rs1798381614
|
|
NM_000492.4(CFTR):c.1640C>G (p.Thr547Arg)
|
|
|
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs)
|
rs397508246
|
|
NM_000492.4(CFTR):c.1643_1644delinsCT (p.Leu548Pro)
|
|
|
NM_000492.4(CFTR):c.1644G>T (p.Leu548=)
|
|
|
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)
|
rs121908757
|
|
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile)
|
rs121908755
|
|
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg)
|
rs121909005
|
|
NM_000492.4(CFTR):c.1647T>C (p.Ser549=)
|
rs121909005
|
|
NM_000492.4(CFTR):c.1648G>A (p.Gly550Arg)
|
rs397508247
|
|
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)
|
rs397508247
|
|
NM_000492.4(CFTR):c.164G>A (p.Arg55Lys)
|
|
|
NM_000492.4(CFTR):c.165-12A>C
|
|
|
NM_000492.4(CFTR):c.165-12dup
|
rs2116641261
|
|
NM_000492.4(CFTR):c.165-17T>C
|
|
|
NM_000492.4(CFTR):c.165-1G>A
|
rs397508249
|
|
NM_000492.4(CFTR):c.165-2A>C
|
rs397508250
|
|
NM_000492.4(CFTR):c.165-2A>G
|
rs397508250
|
|
NM_000492.4(CFTR):c.165-2del
|
rs1798467599
|
|
NM_000492.4(CFTR):c.165-4G>A
|
rs2116641277
|
|
NM_000492.4(CFTR):c.165-4G>T
|
|
|
NM_000492.4(CFTR):c.165-50A>G
|
rs369949496
|
|
NM_000492.4(CFTR):c.165-7T>G
|
rs2116641270
|
|
NM_000492.4(CFTR):c.165-9C>A
|
|
|
NM_000492.4(CFTR):c.1650del (p.Gly551fs)
|
rs397508251
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1652G>T (p.Gly551Val)
|
rs75527207
|
|
NM_000492.4(CFTR):c.1652del (p.Gly551fs)
|
rs397508252
|
|
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1656A>G (p.Gln552=)
|
|
|
NM_000492.4(CFTR):c.1656del (p.Gln552fs)
|
rs397508253
|
|
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly)
|
rs74597325
|
|
NM_000492.4(CFTR):c.1660_1661insA (p.Ala554fs)
|
rs397508254
|
|
NM_000492.4(CFTR):c.1661C>G (p.Ala554Gly)
|
|
|
NM_000492.4(CFTR):c.1662A>G (p.Ala554=)
|
|
|
NM_000492.4(CFTR):c.1663A>G (p.Arg555Gly)
|
rs397508255
|
|
NM_000492.4(CFTR):c.1663A>T (p.Arg555Ter)
|
|
|
NM_000492.4(CFTR):c.1666A>C (p.Ile556Leu)
|
|
|
NM_000492.4(CFTR):c.1668T>C (p.Ile556=)
|
rs1232726281
|
|
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
|
|
|
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter)
|
rs397508256
|
|
NM_000492.4(CFTR):c.1670del (p.Ser557fs)
|
rs397508257
|
|
NM_000492.4(CFTR):c.1672_1673del (p.Leu558fs)
|
|
|
NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)
|
|
|
NM_000492.4(CFTR):c.1674del (p.Ala559fs)
|
rs397508258
|
|
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
|
|
|
NM_000492.4(CFTR):c.1675G>T (p.Ala559Ser)
|
rs75549581
|
|
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly)
|
rs397508260
|
|
NM_000492.4(CFTR):c.1679+116G>T
|
rs207468451
|
|
NM_000492.4(CFTR):c.1679+11A>G
|
|
|
NM_000492.4(CFTR):c.1679+12_1679+15del
|
|
|
NM_000492.4(CFTR):c.1679+14T>C
|
|
|
NM_000492.4(CFTR):c.1679+16T>A
|
|
|
NM_000492.4(CFTR):c.1679+17T>C
|
|
|
NM_000492.4(CFTR):c.1679+17T>G
|
|
|
NM_000492.4(CFTR):c.1679+18G>C
|
|
|
NM_000492.4(CFTR):c.1679+18G>T
|
rs369294289
|
|
NM_000492.4(CFTR):c.1679+19G>A
|
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1679+1G>C
|
rs397508263
|
|
NM_000492.4(CFTR):c.1679+8A>G
|
rs769716650
|
|
NM_000492.4(CFTR):c.1679+901C>T
|
|
|
NM_000492.4(CFTR):c.1679+9_1679+12del
|
|
|
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)
|
rs80055610
|
|
NM_000492.4(CFTR):c.167A>G (p.Glu56Gly)
|
rs1554376387
|
|
NM_000492.4(CFTR):c.1680-1071A>G
|
|
|
NM_000492.4(CFTR):c.1680-19A>C
|
|
|
NM_000492.4(CFTR):c.1680-1G>C
|
rs121908794
|
|
NM_000492.4(CFTR):c.1680-20A>C
|
|
|
NM_000492.4(CFTR):c.1680-2dup
|
rs1554389008
|
|
NM_000492.4(CFTR):c.1680-717A>G
|
|
|
NM_000492.4(CFTR):c.1680-871_1680-870delinsGA
|
rs727504811
|
|
NM_000492.4(CFTR):c.1680-877G>A
|
rs397508261
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1680-883A>G
|
rs1554388867
|
|
NM_000492.4(CFTR):c.1680-885T>C
|
rs1281580863
|
|
NM_000492.4(CFTR):c.1680-9T>C
|
rs1252191433
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)
|
|
|
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.1686A>G (p.Val562=)
|
|
|
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His)
|
rs121909006
|
|
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp)
|
rs121909006
|
|
NM_000492.4(CFTR):c.1688A>G (p.Tyr563Cys)
|
|
|
NM_000492.4(CFTR):c.1689C>A (p.Tyr563Ter)
|
|
|
NM_000492.4(CFTR):c.168A>G (p.Glu56=)
|
|
|
NM_000492.4(CFTR):c.168del (p.Glu56fs)
|
rs397508269
|
|
NM_000492.4(CFTR):c.1690A>G (p.Lys564Glu)
|
|
|
NM_000492.4(CFTR):c.1692del (p.Asp565fs)
|
rs193922505
|
|
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.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.16C>G (p.Leu6Val)
|
rs1554373095
|
|
NM_000492.4(CFTR):c.16C>T (p.Leu6=)
|
rs1554373095
|
|
NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala)
|
rs1562907186
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
NM_000492.4(CFTR):c.1703del (p.Leu568fs)
|
rs397508274
|
|
NM_000492.4(CFTR):c.1704G>A (p.Leu568=)
|
rs397508275
|
|
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe)
|
rs397508275
|
|
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His)
|
rs397508276
|
|
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)
|
rs397508277
|
|
NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter)
|
rs397508278
|
|
NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter)
|
|
|
NM_000492.4(CFTR):c.1709T>C (p.Leu570Ser)
|
|
|
NM_000492.4(CFTR):c.1709del (p.Leu570fs)
|
|
|
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)
|
rs397508279
|
|
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.1714_1715del (p.Asp572fs)
|
rs397508281
|
|
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly)
|
rs1792007322
|
|
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
|
|
|
NM_000492.4(CFTR):c.1719T>A (p.Ser573=)
|
|
|
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)
|
rs121909025
|
|
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser)
|
rs397508283
|
|
NM_000492.4(CFTR):c.1722T>A (p.Pro574=)
|
|
|
NM_000492.4(CFTR):c.1726G>T (p.Gly576Ter)
|
rs397508284
|
|
NM_000492.4(CFTR):c.172G>A (p.Asp58Asn)
|
rs397508285
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter)
|
rs55928397
|
|
NM_000492.4(CFTR):c.1732C>T (p.Leu578=)
|
rs979121392
|
|
NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)
|
|
|
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs)
|
rs1562907232
|
|
NM_000492.4(CFTR):c.1735G>A (p.Asp579Asn)
|
|
|
NM_000492.4(CFTR):c.1735G>C (p.Asp579His)
|
|
|
NM_000492.4(CFTR):c.1735G>T (p.Asp579Tyr)
|
rs397508287
|
|
NM_000492.4(CFTR):c.1735_1736del (p.Asp579fs)
|
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1738G>A (p.Val580Ile)
|
rs2116025764
|
|
NM_000492.4(CFTR):c.1738del (p.Val580fs)
|
rs397508289
|
|
NM_000492.4(CFTR):c.173A>G (p.Asp58Gly)
|
rs397508291
|
|
NM_000492.4(CFTR):c.173A>T (p.Asp58Val)
|
|
|
NM_000492.4(CFTR):c.1742dup (p.Leu581fs)
|
rs397508290
|
|
NM_000492.4(CFTR):c.1743A>T (p.Leu581Phe)
|
|
|
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)
|
rs397508292
|
|
NM_000492.4(CFTR):c.1745C>G (p.Thr582Arg)
|
rs397508293
|
|
NM_000492.4(CFTR):c.1746A>C (p.Thr582=)
|
rs751058333
|
|
NM_000492.4(CFTR):c.1746A>G (p.Thr582=)
|
|
|
NM_000492.4(CFTR):c.1749A>G (p.Glu583=)
|
rs2116025833
|
|
NM_000492.4(CFTR):c.174_177del (p.Asp58fs)
|
rs397508295
|
|
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
|
|
|
NM_000492.4(CFTR):c.1758A>T (p.Ile586=)
|
rs1462572352
|
|
NM_000492.4(CFTR):c.1759T>A (p.Phe587Ile)
|
|
|
NM_000492.4(CFTR):c.175dup (p.Arg59fs)
|
rs397508294
|
|
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser)
|
rs1562907260
|
|
NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter)
|
|
|
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+10T>C
|
|
|
NM_000492.4(CFTR):c.1766+11del
|
rs754798684
|
|
NM_000492.4(CFTR):c.1766+16A>G
|
rs2116026057
|
|
NM_000492.4(CFTR):c.1766+1G>C
|
rs121908748
|
|
NM_000492.4(CFTR):c.1766+1G>T
|
rs121908748
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+2T>C
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+3A>C
|
rs397508298
|
|
NM_000492.4(CFTR):c.1766+3A>T
|
rs397508298
|
|
NM_000492.4(CFTR):c.1766+5G>A
|
rs121908796
|
|
NM_000492.4(CFTR):c.1766+79T>A
|
|
|
NM_000492.4(CFTR):c.1766+7T>A
|
|
|
NM_000492.4(CFTR):c.1766+80T>A
|
|
|
NM_000492.4(CFTR):c.1766+80T>C
|
|
|
NM_000492.4(CFTR):c.1766+81T>A
|
|
|
NM_000492.4(CFTR):c.1766+82A>T
|
|
|
NM_000492.4(CFTR):c.1766+8C>T
|
rs1474138131
|
|
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)
|
rs397508300
|
|
NM_000492.4(CFTR):c.1767-11A>G
|
|
|
NM_000492.4(CFTR):c.1767-12del
|
|
|
NM_000492.4(CFTR):c.1767-13T>G
|
rs2116029937
|
|
NM_000492.4(CFTR):c.1767-19A>G
|
|
|
NM_000492.4(CFTR):c.1767-1G>A
|
rs1554389241
|
|
NM_000492.4(CFTR):c.1767-2A>G
|
|
|
NM_000492.4(CFTR):c.1767-4A>G
|
rs2116029980
|
|
NM_000492.4(CFTR):c.1767-683_2619+550delinsCTACATTTGTACTA
|
|
|
NM_000492.4(CFTR):c.1767-7C>T
|
rs2116029974
|
|
NM_000492.4(CFTR):c.1767-9A>G
|
rs1223678085
|
|
NM_000492.4(CFTR):c.1769G>A (p.Cys590Tyr)
|
rs1347776232
|
|
NM_000492.4(CFTR):c.1773C>T (p.Val591=)
|
|
|
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
|
|
|
NM_000492.4(CFTR):c.1778_1779del (p.Lys593fs)
|
|
|
NM_000492.4(CFTR):c.1779A>G (p.Lys593=)
|
rs1217712466
|
|
NM_000492.4(CFTR):c.177A>G (p.Arg59=)
|
rs893977457
|
|
NM_000492.4(CFTR):c.1780C>T (p.Leu594=)
|
|
|
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro)
|
rs1554389245
|
|
NM_000492.4(CFTR):c.1782G>T (p.Leu594=)
|
rs2116030062
|
|
NM_000492.4(CFTR):c.1783A>G (p.Met595Val)
|
rs750140050
|
|
NM_000492.4(CFTR):c.1786_1787del (p.Met595_Ala596insTer)
|
rs397508301
|
|
NM_000492.4(CFTR):c.1789A>G (p.Asn597Asp)
|
|
|
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)
|
rs77284892
|
|
NM_000492.4(CFTR):c.178G>C (p.Glu60Gln)
|
rs77284892
|
|
NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter)
|
rs397508302
|
|
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs)
|
rs397508303
|
|
NM_000492.4(CFTR):c.1797T>C (p.Thr599=)
|
|
|
NM_000492.4(CFTR):c.1798A>G (p.Arg600Gly)
|
rs397508305
|
|
NM_000492.4(CFTR):c.179_180del (p.Glu60fs)
|
rs1584776308
|
|
NM_000492.4(CFTR):c.1801A>G (p.Ile601Val)
|
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
NM_000492.4(CFTR):c.1801del (p.Ile601fs)
|
rs1792031758
|
|
NM_000492.4(CFTR):c.1802T>C (p.Ile601Thr)
|
rs397508307
|
|
NM_000492.4(CFTR):c.1804T>C (p.Leu602=)
|
rs1380798382
|
|
NM_000492.4(CFTR):c.1806G>T (p.Leu602Phe)
|
|
|
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe)
|
rs143036685
|
|
NM_000492.4(CFTR):c.1807del (p.Val603fs)
|
|
|
NM_000492.4(CFTR):c.180G>A (p.Glu60=)
|
|
|
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.1811del (p.Thr604fs)
|
|
|
NM_000492.4(CFTR):c.181C>T (p.Leu61=)
|
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1821G>A (p.Met607Ile)
|
|
|
NM_000492.4(CFTR):c.1822del (p.Glu608fs)
|
|
|
NM_000492.4(CFTR):c.1823A>G (p.Glu608Gly)
|
rs397508309
|
|
NM_000492.4(CFTR):c.1824A>G (p.Glu608=)
|
rs2116030297
|
|
NM_000492.4(CFTR):c.1825C>T (p.His609Tyr)
|
rs2116030305
|
|
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)
|
rs397508310
|
|
NM_000492.4(CFTR):c.1828T>C (p.Leu610=)
|
|
|
NM_000492.4(CFTR):c.1829T>C (p.Leu610Ser)
|
rs397508311
|
|
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.184G>A (p.Ala62Thr)
|
rs1584776330
|
|
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro)
|
rs1584776330
|
|
NM_000492.4(CFTR):c.184G>T (p.Ala62Ser)
|
rs1584776330
|
|
NM_000492.4(CFTR):c.1856T>C (p.Leu619Ser)
|
rs397508313
|
|
NM_000492.4(CFTR):c.1859A>C (p.His620Pro)
|
rs397508314
|
|
NM_000492.4(CFTR):c.1860T>C (p.His620=)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter)
|
rs1792033327
|
|
NM_000492.4(CFTR):c.1863A>G (p.Glu621=)
|
|
|
NM_000492.4(CFTR):c.1867_1869delinsG (p.Ser623fs)
|
|
|
NM_000492.4(CFTR):c.1867dup (p.Ser623fs)
|
|
|
NM_000492.4(CFTR):c.1870A>T (p.Ser624Cys)
|
|
|
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
|
|
|
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
|
|
|
NM_000492.4(CFTR):c.1874A>C (p.Tyr625Ser)
|
|
|
NM_000492.4(CFTR):c.1875T>C (p.Tyr625=)
|
|
|
NM_000492.4(CFTR):c.1881T>C (p.Tyr627=)
|
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.1888T>C (p.Phe630Leu)
|
|
|
NM_000492.4(CFTR):c.1890T>C (p.Phe630=)
|
|
|
NM_000492.4(CFTR):c.1891dup (p.Ser631fs)
|
|
|
NM_000492.4(CFTR):c.1893_1897del (p.Glu632fs)
|
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
NM_000492.4(CFTR):c.1898T>C (p.Leu633Pro)
|
rs397508318
|
|
NM_000492.4(CFTR):c.1899C>T (p.Leu633=)
|
|
|
NM_000492.4(CFTR):c.189A>G (p.Ser63=)
|
|
|
NM_000492.4(CFTR):c.1902A>C (p.Gln634His)
|
|
|
NM_000492.4(CFTR):c.1902A>G (p.Gln634=)
|
rs2116030586
|
|
NM_000492.4(CFTR):c.1904del (p.Asn635fs)
|
rs1381239923
|
|
NM_000492.4(CFTR):c.1905T>A (p.Asn635Lys)
|
|
|
NM_000492.4(CFTR):c.1905T>C (p.Asn635=)
|
|
|
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys)
|
rs397508320
|
|
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter)
|
rs397508320
|
|
NM_000492.4(CFTR):c.190A>G (p.Lys64Glu)
|
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.1915G>C (p.Asp639His)
|
|
|
NM_000492.4(CFTR):c.1919_1920del (p.Asp639_Phe640insTer)
|
rs397508322
|
|
NM_000492.4(CFTR):c.1920T>G (p.Phe640Leu)
|
|
|
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)
|
rs1584812217
|
|
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)
|
rs121908779
|
|
NM_000492.4(CFTR):c.1924_1931del (p.Ser642fs)
|
|
|
NM_000492.4(CFTR):c.1927A>C (p.Lys643Gln)
|
|
|
NM_000492.4(CFTR):c.1932C>T (p.Leu644=)
|
|
|
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.1936G>T (p.Gly646Ter)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.1937del (p.Gly646fs)
|
|
|
NM_000492.4(CFTR):c.1938A>G (p.Gly646=)
|
|
|
NM_000492.4(CFTR):c.1941T>C (p.Cys647=)
|
|
|
NM_000492.4(CFTR):c.1943A>T (p.Asp648Val)
|
rs121909033
|
|
NM_000492.4(CFTR):c.1943del (p.Asp648fs)
|
rs1481564133
|
|
NM_000492.4(CFTR):c.1947T>C (p.Ser649=)
|
|
|
NM_000492.4(CFTR):c.1949del (p.Phe650fs)
|
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
NM_000492.4(CFTR):c.1950C>T (p.Phe650=)
|
rs200204024
|
|
NM_000492.4(CFTR):c.1953C>T (p.Asp651=)
|
|
|
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>C (p.Ser654=)
|
rs1792036042
|
|
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.1966G>T (p.Glu656Ter)
|
rs397508323
|
|
NM_000492.4(CFTR):c.1967A>G (p.Glu656Gly)
|
|
|
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)
|
rs1792036190
|
|
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp)
|
rs1060503163
|
|
NM_000492.4(CFTR):c.1970G>A (p.Arg657Lys)
|
|
|
NM_000492.4(CFTR):c.1970del (p.Arg657fs)
|
rs2116030992
|
|
NM_000492.4(CFTR):c.1972dup (p.Arg658fs)
|
|
|
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
|
|
|
NM_000492.4(CFTR):c.1974A>G (p.Arg658=)
|
rs2116031024
|
|
NM_000492.4(CFTR):c.1976del (p.Asn659fs)
|
rs121908809
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val)
|
rs777973729
|
|
NM_000492.4(CFTR):c.1981del (p.Ile661fs)
|
rs397508324
|
|
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs)
|
rs397508325
|
|
NM_000492.4(CFTR):c.198T>C (p.Asn66=)
|
|
|
NM_000492.4(CFTR):c.1990G>C (p.Glu664Gln)
|
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
NM_000492.4(CFTR):c.1992G>T (p.Glu664Asp)
|
rs1792036683
|
|
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser)
|
rs1177201180
|
|
NM_000492.4(CFTR):c.1995C>A (p.Thr665=)
|
|
|
NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter)
|
rs1792036942
|
|
NM_000492.4(CFTR):c.1999C>T (p.His667Tyr)
|
|
|
NM_000492.4(CFTR):c.19G>T (p.Glu7Ter)
|
rs121909045
|
|
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.2007C>T (p.Phe669=)
|
rs958140362
|
|
NM_000492.4(CFTR):c.2009C>T (p.Ser670Leu)
|
|
|
NM_000492.4(CFTR):c.2010A>C (p.Ser670=)
|
|
|
NM_000492.4(CFTR):c.2012T>A (p.Leu671Ter)
|
rs2116031354
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
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.2017G>T (p.Gly673Ter)
|
rs397508331
|
|
NM_000492.4(CFTR):c.2019A>G (p.Gly673=)
|
rs2116031424
|
|
NM_000492.4(CFTR):c.2020G>T (p.Asp674Tyr)
|
|
|
NM_000492.4(CFTR):c.2022T>C (p.Asp674=)
|
rs1259091056
|
|
NM_000492.4(CFTR):c.2025T>G (p.Ala675=)
|
|
|
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.2036G>A (p.Trp679Ter)
|
rs397508333
|
|
NM_000492.4(CFTR):c.2044del (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.2044dup (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.2045C>A (p.Thr682Lys)
|
|
|
NM_000492.4(CFTR):c.2045del (p.Thr682fs)
|
rs1584812361
|
|
NM_000492.4(CFTR):c.2045dup (p.Gln685fs)
|
rs397508334
|
|
NM_000492.4(CFTR):c.2046A>G (p.Thr682=)
|
rs2116031574
|
|
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)
|
rs121908799
|
|
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052A>T (p.Lys684Asn)
|
rs750642366
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter)
|
rs397508336
|
|
NM_000492.4(CFTR):c.2053dup (p.Gln685fs)
|
rs797045162
|
|
NM_000492.4(CFTR):c.2054A>C (p.Gln685Pro)
|
|
|
NM_000492.4(CFTR):c.2058T>C (p.Ser686=)
|
|
|
NM_000492.4(CFTR):c.2058T>G (p.Ser686=)
|
rs1470966740
|
|
NM_000492.4(CFTR):c.2058_2061dup (p.Lys688delinsPheTer)
|
|
|
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile)
|
rs372421038
|
|
NM_000492.4(CFTR):c.2061T>C (p.Phe687=)
|
|
|
NM_000492.4(CFTR):c.2061_2062insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCTTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAACAATCTTTT (p.Lys688delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
|
|
|
NM_000492.4(CFTR):c.2062_2066delinsTTTTTGTTTG (p.Lys688fs)
|
|
|
NM_000492.4(CFTR):c.2064A>G (p.Lys688=)
|
|
|
NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter)
|
rs1584812425
|
|
NM_000492.4(CFTR):c.2066A>C (p.Gln689Pro)
|
|
|
NM_000492.4(CFTR):c.2067G>A (p.Gln689=)
|
|
|
NM_000492.4(CFTR):c.206T>G (p.Leu69Arg)
|
|
|
NM_000492.4(CFTR):c.2070T>C (p.Thr690=)
|
|
|
NM_000492.4(CFTR):c.2072G>T (p.Gly691Val)
|
|
|
NM_000492.4(CFTR):c.2074G>T (p.Glu692Ter)
|
rs397508337
|
|
NM_000492.4(CFTR):c.2075A>T (p.Glu692Val)
|
|
|
NM_000492.4(CFTR):c.2076G>A (p.Glu692=)
|
|
|
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)
|
rs397508338
|
|
NM_000492.4(CFTR):c.2082G>A (p.Gly694=)
|
rs1584812453
|
|
NM_000492.4(CFTR):c.2082G>C (p.Gly694=)
|
|
|
NM_000492.4(CFTR):c.2083G>A (p.Glu695Lys)
|
|
|
NM_000492.4(CFTR):c.2083dup (p.Glu695fs)
|
rs397508339
|
|
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg)
|
rs397508340
|
|
NM_000492.4(CFTR):c.2089del (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.2089dup (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.208A>G (p.Ile70Val)
|
|
|
NM_000492.4(CFTR):c.2094G>A (p.Lys698=)
|
|
|
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.2106C>G (p.Leu702=)
|
rs1800102
|
|
NM_000492.4(CFTR):c.2106C>T (p.Leu702=)
|
rs1800102
|
|
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.2109T>C (p.Asn703=)
|
rs770386926
|
|
NM_000492.4(CFTR):c.2115C>A (p.Ile705=)
|
rs1453360094
|
|
NM_000492.4(CFTR):c.2115C>T (p.Ile705=)
|
|
|
NM_000492.4(CFTR):c.2121T>A (p.Ser707=)
|
rs2116031968
|
|
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
|
|
|
NM_000492.4(CFTR):c.2124A>T (p.Ile708=)
|
|
|
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly)
|
rs121908760
|
|
NM_000492.4(CFTR):c.2127A>G (p.Arg709=)
|
rs2116032010
|
|
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)
|
rs75115087
|
|
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.2130A>G (p.Lys710=)
|
|
|
NM_000492.4(CFTR):c.2131T>C (p.Phe711Leu)
|
rs1792042320
|
|
NM_000492.4(CFTR):c.2136C>T (p.Ser712=)
|
|
|
NM_000492.4(CFTR):c.2137A>G (p.Ile713Val)
|
|
|
NM_000492.4(CFTR):c.2139T>A (p.Ile713=)
|
|
|
NM_000492.4(CFTR):c.2139T>C (p.Ile713=)
|
rs763930691
|
|
NM_000492.4(CFTR):c.2140G>T (p.Val714Leu)
|
rs774199624
|
|
NM_000492.4(CFTR):c.2143C>G (p.Gln715Glu)
|
|
|
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)
|
rs397508343
|
|
NM_000492.4(CFTR):c.2145A>G (p.Gln715=)
|
|
|
NM_000492.4(CFTR):c.2145_2146delinsGT (p.Lys716Ter)
|
rs397508344
|
|
NM_000492.4(CFTR):c.2146A>T (p.Lys716Ter)
|
rs121909023
|
|
NM_000492.4(CFTR):c.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln)
|
rs2116032118
|
|
NM_000492.4(CFTR):c.2148G>A (p.Lys716=)
|
rs2116032125
|
|
NM_000492.4(CFTR):c.2151T>C (p.Thr717=)
|
|
|
NM_000492.4(CFTR):c.2151T>G (p.Thr717=)
|
rs2116032144
|
|
NM_000492.4(CFTR):c.2152C>T (p.Pro718Ser)
|
|
|
NM_000492.4(CFTR):c.2154C>T (p.Pro718=)
|
|
|
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter)
|
rs397508345
|
|
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter)
|
rs397508346
|
|
NM_000492.4(CFTR):c.215C>G (p.Ala72Gly)
|
|
|
NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer)
|
|
|
NM_000492.4(CFTR):c.2166T>A (p.Asn722Lys)
|
|
|
NM_000492.4(CFTR):c.2166T>C (p.Asn722=)
|
|
|
NM_000492.4(CFTR):c.216C>G (p.Ala72=)
|
|
|
NM_000492.4(CFTR):c.216C>T (p.Ala72=)
|
rs1033366496
|
|
NM_000492.4(CFTR):c.2170A>C (p.Ile724Leu)
|
|
|
NM_000492.4(CFTR):c.2171T>C (p.Ile724Thr)
|
|
|
NM_000492.4(CFTR):c.2172C>A (p.Ile724=)
|
|
|
NM_000492.4(CFTR):c.2172C>T (p.Ile724=)
|
rs368599862
|
|
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
|
|
|
NM_000492.4(CFTR):c.2179G>T (p.Asp727Tyr)
|
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
NM_000492.4(CFTR):c.2181T>C (p.Asp727=)
|
rs1792043547
|
|
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.2187T>C (p.Asp729=)
|
|
|
NM_000492.4(CFTR):c.2188G>A (p.Glu730Lys)
|
|
|
NM_000492.4(CFTR):c.2188G>T (p.Glu730Ter)
|
rs397508349
|
|
NM_000492.4(CFTR):c.2189A>C (p.Glu730Ala)
|
|
|
NM_000492.4(CFTR):c.2190G>A (p.Glu730=)
|
|
|
NM_000492.4(CFTR):c.2192C>G (p.Pro731Arg)
|
|
|
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
|
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2200A>G (p.Arg734Gly)
|
|
|
NM_000492.4(CFTR):c.2202A>G (p.Arg734=)
|
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.2204G>A (p.Arg735Lys)
|
rs397508352
|
|
NM_000492.4(CFTR):c.2205G>C (p.Arg735Ser)
|
rs2116032368
|
|
NM_000492.4(CFTR):c.2208G>A (p.Leu736=)
|
|
|
NM_000492.4(CFTR):c.220C>A (p.Arg74=)
|
|
|
NM_000492.4(CFTR):c.2211C>T (p.Ser737=)
|
|
|
NM_000492.4(CFTR):c.2213T>G (p.Leu738Ter)
|
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2217A>G (p.Val739=)
|
|
|
NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)
|
|
|
NM_000492.4(CFTR):c.2225C>T (p.Ser742Phe)
|
|
|
NM_000492.4(CFTR):c.2226T>C (p.Ser742=)
|
rs2116032463
|
|
NM_000492.4(CFTR):c.2229G>A (p.Glu743=)
|
|
|
NM_000492.4(CFTR):c.2231A>C (p.Gln744Pro)
|
|
|
NM_000492.4(CFTR):c.2231A>G (p.Gln744Arg)
|
|
|
NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter)
|
rs397508354
|
|
NM_000492.4(CFTR):c.2235A>G (p.Gly745=)
|
|
|
NM_000492.4(CFTR):c.2238G>C (p.Glu746Asp)
|
|
|
NM_000492.4(CFTR):c.2240C>A (p.Ala747Glu)
|
|
|
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs)
|
rs397508355
|
|
NM_000492.4(CFTR):c.2241del (p.Ile748fs)
|
|
|
NM_000492.4(CFTR):c.2248C>A (p.Pro750Thr)
|
|
|
NM_000492.4(CFTR):c.2249_2256del (p.Pro750fs)
|
rs397508356
|
|
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.2259C>G (p.Ser753Arg)
|
rs201888075
|
|
NM_000492.4(CFTR):c.2261del (p.Val754fs)
|
rs2116032687
|
|
NM_000492.4(CFTR):c.2262G>T (p.Val754=)
|
|
|
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.2283T>G (p.Leu761=)
|
|
|
NM_000492.4(CFTR):c.2283dup (p.Gln762fs)
|
|
|
NM_000492.4(CFTR):c.2286G>A (p.Gln762=)
|
|
|
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr)
|
rs2116032836
|
|
NM_000492.4(CFTR):c.2287G>T (p.Ala763Ser)
|
|
|
NM_000492.4(CFTR):c.2288C>G (p.Ala763Gly)
|
|
|
NM_000492.4(CFTR):c.2289A>G (p.Ala763=)
|
rs1792046083
|
|
NM_000492.4(CFTR):c.228T>C (p.Cys76=)
|
rs777536750
|
|
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp)
|
rs777536750
|
|
NM_000492.4(CFTR):c.2290C>A (p.Arg764=)
|
|
|
NM_000492.4(CFTR):c.2291del (p.Arg764fs)
|
rs387906376
|
|
NM_000492.4(CFTR):c.2293A>G (p.Arg765Gly)
|
|
|
NM_000492.4(CFTR):c.2294G>A (p.Arg765Lys)
|
|
|
NM_000492.4(CFTR):c.2295G>A (p.Arg765=)
|
|
|
NM_000492.4(CFTR):c.2297G>C (p.Arg766Thr)
|
|
|
NM_000492.4(CFTR):c.2297G>T (p.Arg766Met)
|
rs397508363
|
|
NM_000492.4(CFTR):c.2299C>T (p.Gln767Ter)
|
rs1584812646
|
|
NM_000492.4(CFTR):c.2301G>A (p.Gln767=)
|
rs1386366130
|
|
NM_000492.4(CFTR):c.2301del (p.Gln767fs)
|
rs2116032944
|
|
NM_000492.4(CFTR):c.2307C>G (p.Val769=)
|
rs1241371944
|
|
NM_000492.4(CFTR):c.2310G>T (p.Leu770=)
|
|
|
NM_000492.4(CFTR):c.2312A>G (p.Asn771Ser)
|
|
|
NM_000492.4(CFTR):c.2313C>T (p.Asn771=)
|
rs768301278
|
|
NM_000492.4(CFTR):c.231T>C (p.Phe77=)
|
rs2116641592
|
|
NM_000492.4(CFTR):c.2321C>G (p.Thr774Arg)
|
|
|
NM_000492.4(CFTR):c.2322A>G (p.Thr774=)
|
|
|
NM_000492.4(CFTR):c.2324_2325del (p.His775fs)
|
rs397508364
|
|
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter)
|
rs397508365
|
|
NM_000492.4(CFTR):c.2328A>G (p.Ser776=)
|
rs2116033048
|
|
NM_000492.4(CFTR):c.2335C>T (p.Gln779Ter)
|
rs2116033063
|
|
NM_000492.4(CFTR):c.2335del (p.Gln779fs)
|
|
|
NM_000492.4(CFTR):c.2337del (p.Gly780fs)
|
|
|
NM_000492.4(CFTR):c.233del (p.Phe78fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2341C>G (p.Gln781Glu)
|
|
|
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)
|
rs397508368
|
|
NM_000492.4(CFTR):c.2342A>G (p.Gln781Arg)
|
|
|
NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys)
|
rs397508369
|
|
NM_000492.4(CFTR):c.2346C>T (p.Asn782=)
|
|
|
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
|
|
|
NM_000492.4(CFTR):c.2348T>G (p.Ile783Ser)
|
|
|
NM_000492.4(CFTR):c.234C>T (p.Phe78=)
|
|
|
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.236G>A (p.Trp79Ter)
|
rs397508371
|
|
NM_000492.4(CFTR):c.2373A>C (p.Thr791=)
|
|
|
NM_000492.4(CFTR):c.2373del (p.Arg792fs)
|
rs1584812696
|
|
NM_000492.4(CFTR):c.2374C>A (p.Arg792=)
|
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.2379A>T (p.Lys793Asn)
|
|
|
NM_000492.4(CFTR):c.2379del (p.Val794fs)
|
|
|
NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)
|
|
|
NM_000492.4(CFTR):c.2381T>A (p.Val794Glu)
|
|
|
NM_000492.4(CFTR):c.2382_2383del (p.Ser795fs)
|
|
|
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.2393dup (p.Gln799fs)
|
rs397508372
|
|
NM_000492.4(CFTR):c.2395C>A (p.Gln799Lys)
|
|
|
NM_000492.4(CFTR):c.2395C>T (p.Gln799Ter)
|
rs984281283
|
|
NM_000492.4(CFTR):c.2397G>A (p.Gln799=)
|
|
|
NM_000492.4(CFTR):c.2399C>A (p.Ala800Glu)
|
|
|
NM_000492.4(CFTR):c.2399C>G (p.Ala800Gly)
|
rs397508373
|
|
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.2410G>T (p.Glu804Ter)
|
rs1792049376
|
|
NM_000492.4(CFTR):c.2411A>T (p.Glu804Val)
|
rs397508374
|
|
NM_000492.4(CFTR):c.2413C>T (p.Leu805=)
|
rs2116033549
|
|
NM_000492.4(CFTR):c.2415G>C (p.Leu805=)
|
|
|
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.2421A>C (p.Ile807=)
|
|
|
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs)
|
rs387906359
|
|
NM_000492.4(CFTR):c.2426C>A (p.Ser809Ter)
|
rs1457971953
|
|
NM_000492.4(CFTR):c.2426C>T (p.Ser809Leu)
|
|
|
NM_000492.4(CFTR):c.2427A>T (p.Ser809=)
|
|
|
NM_000492.4(CFTR):c.2427AAG[1] (p.Arg811del)
|
rs1554389478
|
|
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter)
|
rs377447726
|
|
NM_000492.4(CFTR):c.2429del (p.Arg810fs)
|
rs1057516236
|
|
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.2434T>C (p.Leu812=)
|
|
|
NM_000492.4(CFTR):c.2435dup (p.Leu812fs)
|
rs397508376
|
|
NM_000492.4(CFTR):c.2436A>G (p.Leu812=)
|
|
|
NM_000492.4(CFTR):c.2438del (p.Ser813fs)
|
|
|
NM_000492.4(CFTR):c.2439T>C (p.Ser813=)
|
rs2116033726
|
|
NM_000492.4(CFTR):c.243T>G (p.Phe81Leu)
|
|
|
NM_000492.4(CFTR):c.243del (p.Phe81fs)
|
rs1562884046
|
|
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)
|
rs397508377
|
|
NM_000492.4(CFTR):c.2443G>T (p.Glu815Ter)
|
rs672601316
|
|
NM_000492.4(CFTR):c.2443del (p.Glu815fs)
|
rs1584812777
|
|
NM_000492.4(CFTR):c.2446A>C (p.Thr816Pro)
|
|
|
NM_000492.4(CFTR):c.244A>G (p.Met82Val)
|
rs1554376431
|
|
NM_000492.4(CFTR):c.2450del (p.Gly817fs)
|
rs1584812778
|
|
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
|
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
NM_000492.4(CFTR):c.2454G>A (p.Leu818=)
|
|
|
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter)
|
rs1792051187
|
|
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.2463_2464del (p.Ser821fs)
|
rs797045156
|
|
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys)
|
rs397508378
|
|
NM_000492.4(CFTR):c.2470A>G (p.Ile824Val)
|
|
|
NM_000492.4(CFTR):c.2472T>A (p.Ile824=)
|
|
|
NM_000492.4(CFTR):c.2472T>C (p.Ile824=)
|
|
|
NM_000492.4(CFTR):c.2472T>G (p.Ile824Met)
|
|
|
NM_000492.4(CFTR):c.2472del (p.Asn825fs)
|
rs397508380
|
|
NM_000492.4(CFTR):c.2474A>G (p.Asn825Ser)
|
rs1398481391
|
|
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)
|
rs1554389486
|
|
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter)
|
rs397508381
|
|
NM_000492.4(CFTR):c.2478AGA[1] (p.Glu827del)
|
rs2116034014
|
|
NM_000492.4(CFTR):c.2479G>T (p.Glu827Ter)
|
rs121909018
|
|
NM_000492.4(CFTR):c.2483A>G (p.Asp828Gly)
|
|
|
NM_000492.4(CFTR):c.2483dup (p.Asp828fs)
|
rs1057517276
|
|
NM_000492.4(CFTR):c.2484C>T (p.Asp828=)
|
|
|
NM_000492.4(CFTR):c.2486T>A (p.Leu829Ter)
|
|
|
NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter)
|
rs397508382
|
|
NM_000492.4(CFTR):c.2490+1083C>T
|
|
|
NM_000492.4(CFTR):c.2490+11A>G
|
rs1482271794
|
|
NM_000492.4(CFTR):c.2490+14G>A
|
rs573016418
|
|
NM_000492.4(CFTR):c.2490+18G>T
|
|
|
NM_000492.4(CFTR):c.2490+19G>A
|
|
|
NM_000492.4(CFTR):c.2490+19G>C
|
rs368353825
|
|
NM_000492.4(CFTR):c.2490+19G>T
|
|
|
NM_000492.4(CFTR):c.2490+1G>A
|
rs141158996
|
|
NM_000492.4(CFTR):c.2490+1G>T
|
rs141158996
|
|
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+6del
|
rs2116034194
|
|
NM_000492.4(CFTR):c.2490+7A>G
|
rs751864459
|
|
NM_000492.4(CFTR):c.2490+827_2620-3551del
|
|
|
NM_000492.4(CFTR):c.2490+8T>C
|
|
|
NM_000492.4(CFTR):c.2490G>A (p.Lys830=)
|
|
|
NM_000492.4(CFTR):c.2491-10T>C
|
|
|
NM_000492.4(CFTR):c.2491-11C>A
|
|
|
NM_000492.4(CFTR):c.2491-18C>T
|
|
|
NM_000492.4(CFTR):c.2491-19C>A
|
|
|
NM_000492.4(CFTR):c.2491-2A>C
|
rs397508386
|
|
NM_000492.4(CFTR):c.2491-5T>C
|
|
|
NM_000492.4(CFTR):c.2491-7T>A
|
|
|
NM_000492.4(CFTR):c.2492_2619+1del
|
rs1562908889
|
|
NM_000492.4(CFTR):c.2493G>A (p.Glu831=)
|
|
|
NM_000492.4(CFTR):c.2496C>A (p.Cys832Ter)
|
rs397508388
|
|
NM_000492.4(CFTR):c.2496C>T (p.Cys832=)
|
rs397508388
|
|
NM_000492.4(CFTR):c.249C>G (p.Phe83Leu)
|
|
|
NM_000492.4(CFTR):c.24G>A (p.Lys8=)
|
rs1800071
|
|
NM_000492.4(CFTR):c.2502del (p.Phe834fs)
|
rs397508389
|
|
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter)
|
rs397508389
|
|
NM_000492.4(CFTR):c.2503G>A (p.Asp835Asn)
|
rs2116039305
|
|
NM_000492.4(CFTR):c.2503G>T (p.Asp835Tyr)
|
|
|
NM_000492.4(CFTR):c.2508T>C (p.Asp836=)
|
|
|
NM_000492.4(CFTR):c.2508del (p.Asp836fs)
|
rs397508391
|
|
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.2522C>G (p.Pro841Arg)
|
rs397508392
|
|
NM_000492.4(CFTR):c.2528T>A (p.Val843Glu)
|
|
|
NM_000492.4(CFTR):c.2529G>A (p.Val843=)
|
|
|
NM_000492.4(CFTR):c.2529G>T (p.Val843=)
|
|
|
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile)
|
rs1792097477
|
|
NM_000492.4(CFTR):c.2532T>G (p.Thr844=)
|
|
|
NM_000492.4(CFTR):c.2533A>C (p.Thr845Pro)
|
|
|
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)
|
rs267606722
|
|
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
|
|
|
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)
|
rs1584776437
|
|
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.2547C>A (p.Tyr849Ter)
|
rs397508394
|
|
NM_000492.4(CFTR):c.2547C>T (p.Tyr849=)
|
rs397508394
|
|
NM_000492.4(CFTR):c.2549T>G (p.Leu850Arg)
|
|
|
NM_000492.4(CFTR):c.254G>T (p.Gly85Val)
|
rs75961395
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2555del (p.Tyr852fs)
|
|
|
NM_000492.4(CFTR):c.2556T>C (p.Tyr852=)
|
|
|
NM_000492.4(CFTR):c.2556T>G (p.Tyr852Ter)
|
rs1584813819
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
NM_000492.4(CFTR):c.255A>G (p.Gly85=)
|
|
|
NM_000492.4(CFTR):c.2560dup (p.Thr854fs)
|
rs2116039575
|
|
NM_000492.4(CFTR):c.2561C>T (p.Thr854Ile)
|
|
|
NM_000492.4(CFTR):c.2562T>A (p.Thr854=)
|
|
|
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)
|
rs1584813846
|
|
NM_000492.4(CFTR):c.2565C>G (p.Val855=)
|
rs1233428222
|
|
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.2571G>A (p.Lys857=)
|
rs397508398
|
|
NM_000492.4(CFTR):c.2573G>A (p.Ser858Asn)
|
rs2116039677
|
|
NM_000492.4(CFTR):c.2573del (p.Ser858fs)
|
rs1562908997
|
|
NM_000492.4(CFTR):c.2574C>T (p.Ser858=)
|
rs2116039690
|
|
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.2583del (p.Phe861fs)
|
rs397508399
|
|
NM_000492.4(CFTR):c.2584G>A (p.Val862Met)
|
|
|
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
|
|
|
NM_000492.4(CFTR):c.2589A>G (p.Leu863=)
|
|
|
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)
|
rs397508400
|
|
NM_000492.4(CFTR):c.258C>T (p.Ile86=)
|
|
|
NM_000492.4(CFTR):c.2592_2593del (p.Ile864fs)
|
rs397508401
|
|
NM_000492.4(CFTR):c.2596T>C (p.Cys866Arg)
|
rs397508402
|
|
NM_000492.4(CFTR):c.2598C>G (p.Cys866Trp)
|
|
|
NM_000492.4(CFTR):c.259T>A (p.Phe87Ile)
|
rs397508403
|
|
NM_000492.4(CFTR):c.259T>C (p.Phe87Leu)
|
rs397508403
|
|
NM_000492.4(CFTR):c.25dup (p.Ala9fs)
|
rs1584764596
|
|
NM_000492.4(CFTR):c.2600T>A (p.Leu867Ter)
|
rs397508404
|
|
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter)
|
rs397508404
|
|
NM_000492.4(CFTR):c.2601dup (p.Val868fs)
|
rs397508405
|
|
NM_000492.4(CFTR):c.2605A>G (p.Ile869Val)
|
|
|
NM_000492.4(CFTR):c.2605del (p.Ile869fs)
|
|
|
NM_000492.4(CFTR):c.2605dup (p.Ile869fs)
|
|
|
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.2617G>T (p.Glu873Ter)
|
rs1792100143
|
|
NM_000492.4(CFTR):c.2619+11T>G
|
|
|
NM_000492.4(CFTR):c.2619+12C>G
|
|
|
NM_000492.4(CFTR):c.2619+13T>C
|
|
|
NM_000492.4(CFTR):c.2619+14A>G
|
|
|
NM_000492.4(CFTR):c.2619+16T>C
|
|
|
NM_000492.4(CFTR):c.2619+19A>G
|
|
|
NM_000492.4(CFTR):c.2619+20_2619+24del
|
|
|
NM_000492.4(CFTR):c.2619+2T>A
|
rs397508407
|
|
NM_000492.4(CFTR):c.2619+2T>C
|
|
|
NM_000492.4(CFTR):c.2619+3A>G
|
rs397508408
|
|
NM_000492.4(CFTR):c.2619+7A>C
|
rs2116039906
|
|
NM_000492.4(CFTR):c.2619+7A>G
|
rs2116039906
|
|
NM_000492.4(CFTR):c.2619+86_2619+87del
|
rs4148712
|
|
NM_000492.4(CFTR):c.2619+8T>C
|
|
|
NM_000492.4(CFTR):c.2619+8T>G
|
|
|
NM_000492.4(CFTR):c.2619G>A (p.Glu873=)
|
rs397508409
|
|
NM_000492.4(CFTR):c.2620-11T>C
|
|
|
NM_000492.4(CFTR):c.2620-12G>A
|
|
|
NM_000492.4(CFTR):c.2620-12G>T
|
|
|
NM_000492.4(CFTR):c.2620-14T>C
|
|
|
NM_000492.4(CFTR):c.2620-15C>T
|
rs139379077
|
|
NM_000492.4(CFTR):c.2620-18T>C
|
|
|
NM_000492.4(CFTR):c.2620-19G>A
|
|
|
NM_000492.4(CFTR):c.2620-1G>T
|
rs397508410
|
|
NM_000492.4(CFTR):c.2620-26_2620-25insG
|
rs776600589
|
|
NM_000492.4(CFTR):c.2620-2A>G
|
rs1554390859
|
|
NM_000492.4(CFTR):c.2620-4C>A
|
rs1180219519
|
|
NM_000492.4(CFTR):c.2620-674_3367+232del
|
|
|
NM_000492.4(CFTR):c.2620-7A>G
|
rs1335322650
|
|
NM_000492.4(CFTR):c.2620-80G>A
|
|
|
NM_000492.4(CFTR):c.2620-80G>T
|
|
|
NM_000492.4(CFTR):c.2620-81T>G
|
|
|
NM_000492.4(CFTR):c.2620-82G>T
|
|
|
NM_000492.4(CFTR):c.2620-8C>T
|
|
|
NM_000492.4(CFTR):c.2620-9C>G
|
rs1239102386
|
|
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.2628T>C (p.Ala876=)
|
rs2116059284
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2632T>C (p.Leu878=)
|
rs2116059306
|
|
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.2637T>C (p.Val879=)
|
|
|
NM_000492.4(CFTR):c.2637_2644del (p.Val880fs)
|
|
|
NM_000492.4(CFTR):c.2639_2640dup (p.Leu881fs)
|
rs1584817344
|
|
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.263T>C (p.Leu88Ser)
|
rs397508412
|
|
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.2641C>T (p.Leu881=)
|
rs2116059368
|
|
NM_000492.4(CFTR):c.2642T>C (p.Leu881Pro)
|
|
|
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)
|
rs397508413
|
|
NM_000492.4(CFTR):c.2646G>A (p.Trp882Ter)
|
rs1792246412
|
|
NM_000492.4(CFTR):c.264A>G (p.Leu88=)
|
|
|
NM_000492.4(CFTR):c.264_268del (p.Leu88fs)
|
|
|
NM_000492.4(CFTR):c.2657+11C>T
|
|
|
NM_000492.4(CFTR):c.2657+12A>G
|
rs1792246845
|
|
NM_000492.4(CFTR):c.2657+16C>T
|
|
|
NM_000492.4(CFTR):c.2657+17C>T
|
rs368543375
|
|
NM_000492.4(CFTR):c.2657+19A>G
|
|
|
NM_000492.4(CFTR):c.2657+3G>C
|
|
|
NM_000492.4(CFTR):c.2657+3G>T
|
|
|
NM_000492.4(CFTR):c.2657+7A>T
|
rs750080974
|
|
NM_000492.4(CFTR):c.2658-12T>G
|
|
|
NM_000492.4(CFTR):c.2658-13A>G
|
|
|
NM_000492.4(CFTR):c.2658-16C>T
|
|
|
NM_000492.4(CFTR):c.2658-1G>C
|
rs397508416
|
|
NM_000492.4(CFTR):c.2658-1G>T
|
rs397508416
|
|
NM_000492.4(CFTR):c.2658-2A>G
|
rs1554390958
|
|
NM_000492.4(CFTR):c.2658-4A>G
|
rs2116061003
|
|
NM_000492.4(CFTR):c.2658-5T>C
|
|
|
NM_000492.4(CFTR):c.2658-6T>C
|
rs2116060994
|
|
NM_000492.4(CFTR):c.2658-8C>T
|
rs2116060987
|
|
NM_000492.4(CFTR):c.2663C>A (p.Pro888His)
|
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
NM_000492.4(CFTR):c.2673C>T (p.Asp891=)
|
|
|
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.2689C>T (p.His897Tyr)
|
|
|
NM_000492.4(CFTR):c.2692A>G (p.Ser898Gly)
|
|
|
NM_000492.4(CFTR):c.2694T>C (p.Ser898=)
|
rs2116061252
|
|
NM_000492.4(CFTR):c.2695A>G (p.Arg899Gly)
|
|
|
NM_000492.4(CFTR):c.2697A>G (p.Arg899=)
|
rs2116061262
|
|
NM_000492.4(CFTR):c.269T>A (p.Leu90Ter)
|
rs397508421
|
|
NM_000492.4(CFTR):c.269T>C (p.Leu90Ser)
|
rs397508421
|
|
NM_000492.4(CFTR):c.2700T>A (p.Asn900Lys)
|
rs672601315
|
|
NM_000492.4(CFTR):c.2700T>C (p.Asn900=)
|
|
|
NM_000492.4(CFTR):c.2702A>T (p.Asn901Ile)
|
|
|
NM_000492.4(CFTR):c.2705G>C (p.Ser902Thr)
|
rs2116061306
|
|
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
|
|
|
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)
|
rs397508422
|
|
NM_000492.4(CFTR):c.2706C>T (p.Ser902=)
|
|
|
NM_000492.4(CFTR):c.270del (p.Glu92fs)
|
|
|
NM_000492.4(CFTR):c.2715G>A (p.Val905=)
|
|
|
NM_000492.4(CFTR):c.2717T>A (p.Ile906Asn)
|
|
|
NM_000492.4(CFTR):c.2719A>G (p.Ile907Val)
|
rs397508423
|
|
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)
|
rs121908750
|
|
NM_000492.4(CFTR):c.2720T>A (p.Ile907Asn)
|
|
|
NM_000492.4(CFTR):c.2724C>T (p.Thr908=)
|
|
|
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
|
|
|
NM_000492.4(CFTR):c.2729C>G (p.Thr910Ser)
|
|
|
NM_000492.4(CFTR):c.273+10019C>T
|
|
|
NM_000492.4(CFTR):c.273+10T>G
|
|
|
NM_000492.4(CFTR):c.273+11C>T
|
|
|
NM_000492.4(CFTR):c.273+13T>C
|
|
|
NM_000492.4(CFTR):c.273+14T>C
|
|
|
NM_000492.4(CFTR):c.273+16G>T
|
|
|
NM_000492.4(CFTR):c.273+19C>A
|
|
|
NM_000492.4(CFTR):c.273+2T>C
|
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
NM_000492.4(CFTR):c.273+46T>G
|
rs1227927169
|
|
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.2730C>A (p.Thr910=)
|
rs2116061425
|
|
NM_000492.4(CFTR):c.2730C>G (p.Thr910=)
|
|
|
NM_000492.4(CFTR):c.2730C>T (p.Thr910=)
|
|
|
NM_000492.4(CFTR):c.2733T>C (p.Ser911=)
|
|
|
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr)
|
rs1554390984
|
|
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
|
rs121909034
|
|
NM_000492.4(CFTR):c.2736G>C (p.Ser912=)
|
rs200901072
|
|
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)
|
rs121908788
|
|
NM_000492.4(CFTR):c.2739T>C (p.Tyr913=)
|
rs149790377
|
|
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)
|
|
|
NM_000492.4(CFTR):c.273G>C (p.Gly91=)
|
rs773739166
|
|
NM_000492.4(CFTR):c.274-10C>G
|
rs397508425
|
|
NM_000492.4(CFTR):c.274-10C>T
|
|
|
NM_000492.4(CFTR):c.274-12C>T
|
|
|
NM_000492.4(CFTR):c.274-1407T>G
|
|
|
NM_000492.4(CFTR):c.274-16T>C
|
|
|
NM_000492.4(CFTR):c.274-18G>A
|
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.274-1G>T
|
rs121908792
|
|
NM_000492.4(CFTR):c.274-2A>C
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-2A>G
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-3397_489+710del
|
|
|
NM_000492.4(CFTR):c.274-3T>C
|
rs1554379763
|
|
NM_000492.4(CFTR):c.274-5T>A
|
rs1454461758
|
|
NM_000492.4(CFTR):c.274-5_274-2del
|
rs1584784850
|
|
NM_000492.4(CFTR):c.274-7526T>A
|
|
|
NM_000492.4(CFTR):c.274-7T>C
|
|
|
NM_000492.4(CFTR):c.274-8043A>G
|
|
|
NM_000492.4(CFTR):c.274-8558G>A
|
rs1798697575
|
|
NM_000492.4(CFTR):c.274-8984C>T
|
|
|
NM_000492.4(CFTR):c.274-9C>A
|
|
|
NM_000492.4(CFTR):c.274-9C>G
|
rs575711764
|
|
NM_000492.4(CFTR):c.274-9C>T
|
|
|
NM_000492.4(CFTR):c.2742T>G (p.Tyr914Ter)
|
|
|
NM_000492.4(CFTR):c.2743_2745delinsA (p.Val915fs)
|
|
|
NM_000492.4(CFTR):c.2745G>A (p.Val915=)
|
|
|
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)
|
rs121908751
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
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.2754T>G (p.Ile918Met)
|
rs397508429
|
|
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn)
|
rs1033530699
|
|
NM_000492.4(CFTR):c.2755del (p.Tyr919fs)
|
|
|
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter)
|
rs1408746819
|
|
NM_000492.4(CFTR):c.2758G>C (p.Val920Leu)
|
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.275_489+1del
|
rs1562889180
|
|
NM_000492.4(CFTR):c.275_579+1del
|
|
|
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.2763_2764dup (p.Val922fs)
|
rs397508431
|
|
NM_000492.4(CFTR):c.2764G>A (p.Val922Ile)
|
rs1792259336
|
|
NM_000492.4(CFTR):c.2764G>C (p.Val922Leu)
|
|
|
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp)
|
rs193922509
|
|
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.2772C>T (p.Asp924=)
|
rs1562911610
|
|
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.2776_2777del (p.Leu926fs)
|
rs397508433
|
|
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
NM_000492.4(CFTR):c.2777del (p.Leu926fs)
|
rs397508433
|
|
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
|
rs397508435
|
|
NM_000492.4(CFTR):c.2787G>A (p.Met929Ile)
|
|
|
NM_000492.4(CFTR):c.278T>A (p.Val93Asp)
|
|
|
NM_000492.4(CFTR):c.2790A>C (p.Gly930=)
|
|
|
NM_000492.4(CFTR):c.2790A>G (p.Gly930=)
|
|
|
NM_000492.4(CFTR):c.2793C>T (p.Phe931=)
|
|
|
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser)
|
rs397508437
|
|
NM_000492.4(CFTR):c.279C>T (p.Val93=)
|
|
|
NM_000492.4(CFTR):c.2802T>C (p.Gly934=)
|
|
|
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.2811G>T (p.Leu937=)
|
|
|
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.2812dup (p.Val938fs)
|
rs1562911661
|
|
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)
|
rs397508440
|
|
NM_000492.4(CFTR):c.2817T>C (p.His939=)
|
rs770410806
|
|
NM_000492.4(CFTR):c.2818_2831del (p.Thr940fs)
|
|
|
NM_000492.4(CFTR):c.2818dup (p.Thr940fs)
|
|
|
NM_000492.4(CFTR):c.2819C>T (p.Thr940Ile)
|
|
|
NM_000492.4(CFTR):c.2820T>C (p.Thr940=)
|
rs60887846
|
|
NM_000492.4(CFTR):c.2822del (p.Leu941fs)
|
rs762844777
|
|
NM_000492.4(CFTR):c.2824del (p.Ile942fs)
|
|
|
NM_000492.4(CFTR):c.2825del (p.Ile942fs)
|
rs397508441
|
|
NM_000492.4(CFTR):c.2826C>T (p.Ile942=)
|
|
|
NM_000492.4(CFTR):c.282C>G (p.Thr94=)
|
|
|
NM_000492.4(CFTR):c.2830G>C (p.Val944Leu)
|
|
|
NM_000492.4(CFTR):c.2832G>T (p.Val944=)
|
|
|
NM_000492.4(CFTR):c.2835G>T (p.Ser945=)
|
rs193922513
|
|
NM_000492.4(CFTR):c.2836A>C (p.Lys946Gln)
|
|
|
NM_000492.4(CFTR):c.2838A>G (p.Lys946=)
|
rs2116062142
|
|
NM_000492.4(CFTR):c.283A>T (p.Lys95Ter)
|
|
|
NM_000492.4(CFTR):c.2840T>C (p.Ile947Thr)
|
|
|
NM_000492.4(CFTR):c.2842T>C (p.Leu948=)
|
rs2116062157
|
|
NM_000492.4(CFTR):c.2844A>C (p.Leu948Phe)
|
|
|
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr)
|
rs121909035
|
|
NM_000492.4(CFTR):c.2846A>G (p.His949Arg)
|
rs397508444
|
|
NM_000492.4(CFTR):c.2848C>T (p.His950Tyr)
|
|
|
NM_000492.4(CFTR):c.2848del (p.His950fs)
|
rs2116062196
|
|
NM_000492.4(CFTR):c.284A>G (p.Lys95Arg)
|
|
|
NM_000492.4(CFTR):c.2850C>T (p.His950=)
|
|
|
NM_000492.4(CFTR):c.2851A>G (p.Lys951Glu)
|
|
|
NM_000492.4(CFTR):c.2854A>G (p.Met952Val)
|
|
|
NM_000492.4(CFTR):c.2854del (p.Met952fs)
|
rs1057517032
|
|
NM_000492.4(CFTR):c.2855T>G (p.Met952Arg)
|
|
|
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)
|
rs151048781
|
|
NM_000492.4(CFTR):c.2856G>T (p.Met952Ile)
|
|
|
NM_000492.4(CFTR):c.2859A>G (p.Leu953=)
|
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp)
|
|
|
NM_000492.4(CFTR):c.285A>G (p.Lys95=)
|
rs1584784870
|
|
NM_000492.4(CFTR):c.2861A>C (p.His954Pro)
|
rs397508446
|
|
NM_000492.4(CFTR):c.2861A>G (p.His954Arg)
|
|
|
NM_000492.4(CFTR):c.2863T>G (p.Ser955Ala)
|
rs1584817978
|
|
NM_000492.4(CFTR):c.2872C>T (p.Gln958Ter)
|
rs2116062284
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs)
|
rs1562911739
|
|
NM_000492.4(CFTR):c.287C>A (p.Ala96Glu)
|
rs397508449
|
|
NM_000492.4(CFTR):c.2880T>C (p.Pro960=)
|
|
|
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
|
|
|
NM_000492.4(CFTR):c.2885C>A (p.Ser962Ter)
|
|
|
NM_000492.4(CFTR):c.2889C>T (p.Thr963=)
|
|
|
NM_000492.4(CFTR):c.288A>C (p.Ala96=)
|
|
|
NM_000492.4(CFTR):c.288A>G (p.Ala96=)
|
rs2116669907
|
|
NM_000492.4(CFTR):c.288_296del (p.Val97_Pro99del)
|
|
|
NM_000492.4(CFTR):c.2890C>T (p.Leu964Phe)
|
|
|
NM_000492.4(CFTR):c.2891_2892delinsA (p.Leu964fs)
|
|
|
NM_000492.4(CFTR):c.2894A>G (p.Asn965Ser)
|
|
|
NM_000492.4(CFTR):c.2895C>T (p.Asn965=)
|
|
|
NM_000492.4(CFTR):c.2896del (p.Thr966fs)
|
rs397508451
|
|
NM_000492.4(CFTR):c.2899T>C (p.Leu967=)
|
rs1554391080
|
|
NM_000492.4(CFTR):c.2901G>A (p.Leu967=)
|
|
|
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+1085_3367+260del
|
|
|
NM_000492.4(CFTR):c.2908+10T>C
|
rs2116062549
|
|
NM_000492.4(CFTR):c.2908+13del
|
|
|
NM_000492.4(CFTR):c.2908+14T>G
|
rs2116062569
|
|
NM_000492.4(CFTR):c.2908+14_2908+21dup
|
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2908+20A>G
|
|
|
NM_000492.4(CFTR):c.2908+3A>C
|
rs1554391091
|
|
NM_000492.4(CFTR):c.2908+3_2908+14del
|
|
|
NM_000492.4(CFTR):c.2908+8A>G
|
rs1792264028
|
|
NM_000492.4(CFTR):c.2908+8A>T
|
rs1792264028
|
|
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2909-10T>C
|
|
|
NM_000492.4(CFTR):c.2909-11G>A
|
|
|
NM_000492.4(CFTR):c.2909-12del
|
rs2116069177
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2909-19G>C
|
|
|
NM_000492.4(CFTR):c.2909-1G>C
|
rs397508456
|
|
NM_000492.4(CFTR):c.2909-2A>T
|
|
|
NM_000492.4(CFTR):c.2909-4A>G
|
rs397508457
|
|
NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
|
|
|
NM_000492.4(CFTR):c.2909-7A>T
|
rs1792304646
|
|
NM_000492.4(CFTR):c.2909-8_2909-7insTAAT
|
rs1554391448
|
|
NM_000492.4(CFTR):c.2911_3367+2del
|
|
|
NM_000492.4(CFTR):c.2913G>C (p.Gly971=)
|
|
|
NM_000492.4(CFTR):c.2916T>C (p.Ile972=)
|
|
|
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe)
|
rs397508459
|
|
NM_000492.4(CFTR):c.2916_2952del (p.Ile972fs)
|
rs1554391454
|
|
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro)
|
rs397508460
|
|
NM_000492.4(CFTR):c.2919T>A (p.Leu973=)
|
rs1453045670
|
|
NM_000492.4(CFTR):c.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
|
|
|
NM_000492.4(CFTR):c.291A>G (p.Val97=)
|
|
|
NM_000492.4(CFTR):c.2922T>C (p.Asn974=)
|
|
|
NM_000492.4(CFTR):c.2924_2925del (p.Arg975fs)
|
rs1584819340
|
|
NM_000492.4(CFTR):c.2925A>G (p.Arg975=)
|
|
|
NM_000492.4(CFTR):c.2928C>A (p.Phe976Leu)
|
|
|
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)
|
rs137975784
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.2933A>G (p.Lys978Arg)
|
|
|
NM_000492.4(CFTR):c.2934A>G (p.Lys978=)
|
rs2116069501
|
|
NM_000492.4(CFTR):c.2935G>T (p.Asp979Tyr)
|
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2937T>C (p.Asp979=)
|
rs1792305947
|
|
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val)
|
rs1554391473
|
|
NM_000492.4(CFTR):c.293A>C (p.Gln98Pro)
|
rs397508464
|
|
NM_000492.4(CFTR):c.2942C>A (p.Ala981Glu)
|
|
|
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
|
|
|
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn)
|
rs764644021
|
|
NM_000492.4(CFTR):c.2951A>T (p.Asp984Val)
|
|
|
NM_000492.4(CFTR):c.2955C>T (p.Asp985=)
|
|
|
NM_000492.4(CFTR):c.2956del (p.Leu986fs)
|
rs2116069671
|
|
NM_000492.4(CFTR):c.2958del (p.Leu987fs)
|
|
|
NM_000492.4(CFTR):c.2959_2960dup (p.Pro988fs)
|
rs2116069700
|
|
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.296C>G (p.Pro99Arg)
|
|
|
NM_000492.4(CFTR):c.2970C>T (p.Thr990=)
|
|
|
NM_000492.4(CFTR):c.2974T>C (p.Phe992Leu)
|
rs1043006335
|
|
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu)
|
rs758250836
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
|
|
|
NM_000492.4(CFTR):c.2979C>T (p.Asp993=)
|
rs2116069838
|
|
NM_000492.4(CFTR):c.297T>G (p.Pro99=)
|
rs2116669955
|
|
NM_000492.4(CFTR):c.2982C>T (p.Phe994=)
|
|
|
NM_000492.4(CFTR):c.2982_2988+2del
|
rs1554391489
|
|
NM_000492.4(CFTR):c.2986dup (p.Gln996fs)
|
rs1554391491
|
|
NM_000492.4(CFTR):c.2988+10A>C
|
rs2116069977
|
|
NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
|
|
|
NM_000492.4(CFTR):c.2988+16T>A
|
|
|
NM_000492.4(CFTR):c.2988+19C>T
|
|
|
NM_000492.4(CFTR):c.2988+1G>C
|
rs75096551
|
|
NM_000492.4(CFTR):c.2988+1G>T
|
rs75096551
|
|
NM_000492.4(CFTR):c.2988+20G>T
|
|
|
NM_000492.4(CFTR):c.2988+2T>C
|
rs1792307406
|
|
NM_000492.4(CFTR):c.2988+33G>T
|
|
|
NM_000492.4(CFTR):c.2988+9A>T
|
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2989-2A>G
|
rs193922515
|
|
NM_000492.4(CFTR):c.2989-2A>T
|
rs193922515
|
|
NM_000492.4(CFTR):c.2989-313A>T
|
rs1584821306
|
|
NM_000492.4(CFTR):c.2989-3C>G
|
rs397508471
|
|
NM_000492.4(CFTR):c.2989-3C>T
|
|
|
NM_000492.4(CFTR):c.2989-6T>C
|
|
|
NM_000492.4(CFTR):c.2989-81del
|
rs4148715
|
|
NM_000492.4(CFTR):c.2989-908_3085delinsGACAG
|
|
|
NM_000492.4(CFTR):c.2989-977_3367+248del
|
|
|
NM_000492.4(CFTR):c.298C>T (p.Leu100Phe)
|
|
|
NM_000492.4(CFTR):c.2991G>A (p.Leu997=)
|
rs1800111
|
|
NM_000492.4(CFTR):c.2991_2993del
|
|
|
NM_000492.4(CFTR):c.2992T>A (p.Leu998Ile)
|
rs2116080345
|
|
NM_000492.4(CFTR):c.2993del (p.Leu998fs)
|
rs1057516415
|
|
NM_000492.4(CFTR):c.2994A>C (p.Leu998Phe)
|
|
|
NM_000492.4(CFTR):c.2994A>T (p.Leu998Phe)
|
|
|
NM_000492.4(CFTR):c.2994del (p.Leu998fs)
|
rs749963273
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.2998_3019del (p.Ile1000fs)
|
rs397508474
|
|
NM_000492.4(CFTR):c.2998del (p.Ile1000fs)
|
rs397508475
|
|
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.2T>A (p.Met1Lys)
|
rs397508476
|
|
NM_000492.4(CFTR):c.2T>G (p.Met1Arg)
|
rs397508476
|
|
NM_000492.4(CFTR):c.3000T>C (p.Ile1000=)
|
|
|
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)
|
|
|
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)
|
rs193922731
|
|
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
|
rs397508477
|
|
NM_000492.4(CFTR):c.3003G>A (p.Val1001=)
|
|
|
NM_000492.4(CFTR):c.3003G>T (p.Val1001=)
|
rs1377312539
|
|
NM_000492.4(CFTR):c.3005T>C (p.Ile1002Thr)
|
|
|
NM_000492.4(CFTR):c.3006T>A (p.Ile1002=)
|
|
|
NM_000492.4(CFTR):c.3007G>T (p.Gly1003Ter)
|
rs397508478
|
|
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu)
|
rs55803548
|
|
NM_000492.4(CFTR):c.3009A>C (p.Gly1003=)
|
|
|
NM_000492.4(CFTR):c.300C>T (p.Leu100=)
|
rs1206224160
|
|
NM_000492.4(CFTR):c.300_301del (p.Leu101fs)
|
rs2116669950
|
|
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)
|
rs1562914072
|
|
NM_000492.4(CFTR):c.3011del (p.Ala1004fs)
|
rs1562914082
|
|
NM_000492.4(CFTR):c.3014T>C (p.Ile1005Thr)
|
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)
|
rs1792366769
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3021del (p.Val1008fs)
|
rs397508481
|
|
NM_000492.4(CFTR):c.3022del (p.Val1008fs)
|
rs397508482
|
|
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp)
|
rs397508483
|
|
NM_000492.4(CFTR):c.3025G>T (p.Ala1009Ser)
|
|
|
NM_000492.4(CFTR):c.3027A>G (p.Ala1009=)
|
|
|
NM_000492.4(CFTR):c.3027A>T (p.Ala1009=)
|
|
|
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)
|
rs1562914107
|
|
NM_000492.4(CFTR):c.3034C>A (p.Gln1012Lys)
|
|
|
NM_000492.4(CFTR):c.3035A>G (p.Gln1012Arg)
|
|
|
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser)
|
rs978796108
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.303A>G (p.Leu101=)
|
|
|
NM_000492.4(CFTR):c.303dup (p.Leu102fs)
|
rs397508486
|
|
NM_000492.4(CFTR):c.3042C>T (p.Tyr1014=)
|
|
|
NM_000492.4(CFTR):c.3043A>G (p.Ile1015Val)
|
|
|
NM_000492.4(CFTR):c.3045C>A (p.Ile1015=)
|
|
|
NM_000492.4(CFTR):c.3045C>T (p.Ile1015=)
|
|
|
NM_000492.4(CFTR):c.304C>T (p.Leu102=)
|
rs1798849790
|
|
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro)
|
rs397508490
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3060G>A (p.Val1020=)
|
rs1584821629
|
|
NM_000492.4(CFTR):c.3060G>T (p.Val1020=)
|
|
|
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.3062C>T (p.Pro1021Leu)
|
rs1554392023
|
|
NM_000492.4(CFTR):c.3063A>G (p.Pro1021=)
|
|
|
NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu)
|
rs144441835
|
|
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)
|
rs1554392027
|
|
NM_000492.4(CFTR):c.3065T>C (p.Val1022Ala)
|
|
|
NM_000492.4(CFTR):c.3065T>G (p.Val1022Gly)
|
|
|
NM_000492.4(CFTR):c.3066G>A (p.Val1022=)
|
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)
|
rs756219310
|
|
NM_000492.4(CFTR):c.3068_3072del (p.Ile1023fs)
|
rs397508493
|
|
NM_000492.4(CFTR):c.306G>T (p.Leu102=)
|
|
|
NM_000492.4(CFTR):c.3070G>A (p.Val1024Met)
|
|
|
NM_000492.4(CFTR):c.3071T>A (p.Val1024Glu)
|
|
|
NM_000492.4(CFTR):c.3073G>T (p.Ala1025Ser)
|
|
|
NM_000492.4(CFTR):c.3075T>G (p.Ala1025=)
|
rs2116080954
|
|
NM_000492.4(CFTR):c.3076T>G (p.Phe1026Val)
|
|
|
NM_000492.4(CFTR):c.307G>A (p.Gly103Arg)
|
rs1584784895
|
|
NM_000492.4(CFTR):c.307G>T (p.Gly103Ter)
|
rs1584784895
|
|
NM_000492.4(CFTR):c.3081T>A (p.Ile1027=)
|
|
|
NM_000492.4(CFTR):c.3084G>T (p.Met1028Ile)
|
rs200553511
|
|
NM_000492.4(CFTR):c.3085T>A (p.Leu1029Met)
|
|
|
NM_000492.4(CFTR):c.308del (p.Gly103fs)
|
|
|
NM_000492.4(CFTR):c.3090A>G (p.Arg1030=)
|
|
|
NM_000492.4(CFTR):c.3092C>G (p.Ala1031Gly)
|
|
|
NM_000492.4(CFTR):c.3093A>C (p.Ala1031=)
|
|
|
NM_000492.4(CFTR):c.3093A>G (p.Ala1031=)
|
|
|
NM_000492.4(CFTR):c.3093A>T (p.Ala1031=)
|
|
|
NM_000492.4(CFTR):c.3099C>A (p.Phe1033Leu)
|
|
|
NM_000492.4(CFTR):c.309A>G (p.Gly103=)
|
|
|
NM_000492.4(CFTR):c.30C>T (p.Ser10=)
|
rs1369001389
|
|
NM_000492.4(CFTR):c.3100C>T (p.Leu1034Phe)
|
rs1554392043
|
|
NM_000492.4(CFTR):c.3101T>C (p.Leu1034Pro)
|
|
|
NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg)
|
rs1792369943
|
|
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
|
rs397508496
|
|
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
|
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.310A>G (p.Arg104Gly)
|
|
|
NM_000492.4(CFTR):c.310del (p.Arg104fs)
|
rs397508499
|
|
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter)
|
rs1562914200
|
|
NM_000492.4(CFTR):c.3114G>A (p.Gln1038=)
|
rs2116081223
|
|
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup)
|
rs1469768894
|
|
NM_000492.4(CFTR):c.3117A>G (p.Gln1039=)
|
|
|
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe)
|
rs1562914212
|
|
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
|
|
|
NM_000492.4(CFTR):c.311G>C (p.Arg104Thr)
|
|
|
NM_000492.4(CFTR):c.3120C>T (p.Leu1040=)
|
|
|
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg)
|
rs1562914220
|
|
NM_000492.4(CFTR):c.3125A>G (p.Gln1042Arg)
|
|
|
NM_000492.4(CFTR):c.3129G>A (p.Leu1043=)
|
|
|
NM_000492.4(CFTR):c.312A>G (p.Arg104=)
|
rs2116670032
|
|
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)
|
rs1584821736
|
|
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe)
|
rs1584821736
|
|
NM_000492.4(CFTR):c.3139+10T>C
|
|
|
NM_000492.4(CFTR):c.3139+17G>A
|
|
|
NM_000492.4(CFTR):c.3139+17G>T
|
|
|
NM_000492.4(CFTR):c.3139+1G>A
|
rs397508503
|
|
NM_000492.4(CFTR):c.3139+1G>T
|
rs397508503
|
|
NM_000492.4(CFTR):c.3139+1del
|
rs780546355
|
|
NM_000492.4(CFTR):c.3139+42A>G
|
|
|
NM_000492.4(CFTR):c.3139+9G>T
|
rs2116081422
|
|
NM_000492.4(CFTR):c.3139+9del
|
rs749651092
|
|
NM_000492.4(CFTR):c.3139G>A (p.Gly1047Ser)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3139G>C (p.Gly1047Arg)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)
|
rs397508504
|
|
NM_000492.4(CFTR):c.313A>C (p.Ile105Leu)
|
rs758675549
|
|
NM_000492.4(CFTR):c.313del (p.Ile105fs)
|
rs121908801
|
|
NM_000492.4(CFTR):c.3140-11A>G
|
|
|
NM_000492.4(CFTR):c.3140-16T>A
|
|
|
NM_000492.4(CFTR):c.3140-16T>C
|
|
|
NM_000492.4(CFTR):c.3140-17A>G
|
rs1383455542
|
|
NM_000492.4(CFTR):c.3140-1G>A
|
rs397508506
|
|
NM_000492.4(CFTR):c.3140-4A>G
|
rs397508507
|
|
NM_000492.4(CFTR):c.3140-9A>G
|
rs1792386089
|
|
NM_000492.4(CFTR):c.3141C>G (p.Gly1047=)
|
|
|
NM_000492.4(CFTR):c.3141_3468+1del
|
|
|
NM_000492.4(CFTR):c.3142A>C (p.Arg1048=)
|
|
|
NM_000492.4(CFTR):c.3146G>A (p.Ser1049Asn)
|
|
|
NM_000492.4(CFTR):c.3148C>A (p.Pro1050Thr)
|
|
|
NM_000492.4(CFTR):c.3148C>G (p.Pro1050Ala)
|
|
|
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn)
|
rs397508509
|
|
NM_000492.4(CFTR):c.3156C>T (p.Phe1052=)
|
|
|
NM_000492.4(CFTR):c.3157A>T (p.Thr1053Ser)
|
rs1792386620
|
|
NM_000492.4(CFTR):c.3159T>A (p.Thr1053=)
|
rs1792386675
|
|
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
|
rs397508510
|
|
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu)
|
rs1417435640
|
|
NM_000492.4(CFTR):c.3161del (p.His1054fs)
|
rs387906377
|
|
NM_000492.4(CFTR):c.3162T>A (p.His1054Gln)
|
|
|
NM_000492.4(CFTR):c.3162T>C (p.His1054=)
|
rs199990040
|
|
NM_000492.4(CFTR):c.3168del (p.Thr1057fs)
|
|
|
NM_000492.4(CFTR):c.316A>G (p.Ile106Val)
|
rs1024092547
|
|
NM_000492.4(CFTR):c.3174C>T (p.Ser1058=)
|
rs1792387133
|
|
NM_000492.4(CFTR):c.3175T>C (p.Leu1059=)
|
|
|
NM_000492.4(CFTR):c.3176T>G (p.Leu1059Ter)
|
rs397508512
|
|
NM_000492.4(CFTR):c.3178A>G (p.Lys1060Glu)
|
rs1244798983
|
|
NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr)
|
rs397508513
|
|
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
|
|
|
NM_000492.4(CFTR):c.3180del (p.Gly1061fs)
|
|
|
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
|
rs142394380
|
|
NM_000492.4(CFTR):c.3183A>G (p.Gly1061=)
|
rs2116084312
|
|
NM_000492.4(CFTR):c.3184C>T (p.Leu1062=)
|
|
|
NM_000492.4(CFTR):c.3184_3188dup (p.Trp1063fs)
|
rs387906366
|
|
NM_000492.4(CFTR):c.3185T>C (p.Leu1062Pro)
|
rs2116084329
|
|
NM_000492.4(CFTR):c.3185_3191del (p.Leu1062fs)
|
rs2116084282
|
|
NM_000492.4(CFTR):c.3186A>G (p.Leu1062=)
|
|
|
NM_000492.4(CFTR):c.3186A>T (p.Leu1062=)
|
|
|
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)
|
rs1562914641
|
|
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)
|
rs397508514
|
|
NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065fs)
|
rs1584822237
|
|
NM_000492.4(CFTR):c.3192A>T (p.Thr1064=)
|
|
|
NM_000492.4(CFTR):c.3192_3276del (p.Leu1065fs)
|
|
|
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser)
|
rs78194216
|
|
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)
|
rs121909019
|
|
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)
|
rs121909020
|
|
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro)
|
rs121909020
|
|
NM_000492.4(CFTR):c.319G>C (p.Ala107Pro)
|
rs1562889219
|
|
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer)
|
rs397508516
|
|
NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly)
|
rs1800114
|
|
NM_000492.4(CFTR):c.3202T>G (p.Phe1068Val)
|
|
|
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro)
|
rs78769542
|
|
NM_000492.4(CFTR):c.320C>G (p.Ala107Gly)
|
|
|
NM_000492.4(CFTR):c.3210G>A (p.Arg1070=)
|
rs1792388976
|
|
NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter)
|
rs397508517
|
|
NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro)
|
rs121909037
|
|
NM_000492.4(CFTR):c.3213G>A (p.Gln1071=)
|
|
|
NM_000492.4(CFTR):c.3214C>T (p.Pro1072Ser)
|
rs1584822281
|
|
NM_000492.4(CFTR):c.3215C>A (p.Pro1072His)
|
|
|
NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs)
|
rs768963919
|
|
NM_000492.4(CFTR):c.3219C>T (p.Tyr1073=)
|
rs1792389293
|
|
NM_000492.4(CFTR):c.321T>A (p.Ala107=)
|
rs778204477
|
|
NM_000492.4(CFTR):c.321T>G (p.Ala107=)
|
|
|
NM_000492.4(CFTR):c.3226A>C (p.Thr1076Pro)
|
|
|
NM_000492.4(CFTR):c.3226A>G (p.Thr1076Ala)
|
|
|
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs)
|
rs397508518
|
|
NM_000492.4(CFTR):c.322T>C (p.Ser108Pro)
|
|
|
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)
|
rs779177972
|
|
NM_000492.4(CFTR):c.3235C>T (p.His1079Tyr)
|
|
|
NM_000492.4(CFTR):c.3237C>T (p.His1079=)
|
rs2116084700
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.3241G>C (p.Ala1081Pro)
|
rs397508521
|
|
NM_000492.4(CFTR):c.3247A>G (p.Asn1083Asp)
|
|
|
NM_000492.4(CFTR):c.3249T>A (p.Asn1083Lys)
|
rs1584822326
|
|
NM_000492.4(CFTR):c.3249T>C (p.Asn1083=)
|
|
|
NM_000492.4(CFTR):c.3254A>C (p.His1085Pro)
|
rs79635528
|
|
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)
|
rs79635528
|
|
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)
|
rs373043500
|
|
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)
|
rs373043500
|
|
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)
|
rs77958296
|
|
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro)
|
rs771259493
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs)
|
rs121908798
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs)
|
rs397508524
|
|
NM_000492.4(CFTR):c.3264del (p.Trp1089fs)
|
rs397508525
|
|
NM_000492.4(CFTR):c.3266G>T (p.Trp1089Leu)
|
|
|
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter)
|
rs150020260
|
|
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
|
|
NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer)
|
rs121908798
|
|
NM_000492.4(CFTR):c.3270C>G (p.Phe1090Leu)
|
|
|
NM_000492.4(CFTR):c.3273G>A (p.Leu1091=)
|
|
|
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)
|
rs121908761
|
|
NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)
|
|
|
NM_000492.4(CFTR):c.3278T>C (p.Leu1093Pro)
|
rs397508527
|
|
NM_000492.4(CFTR):c.3279G>T (p.Leu1093=)
|
|
|
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.327T>C (p.Tyr109=)
|
|
|
NM_000492.4(CFTR):c.327T>G (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.3280T>C (p.Ser1094Pro)
|
|
|
NM_000492.4(CFTR):c.3281C>G (p.Ser1094Ter)
|
|
|
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA
|
rs1554392248
|
|
NM_000492.4(CFTR):c.3285A>G (p.Thr1095=)
|
|
|
NM_000492.4(CFTR):c.3286C>T (p.Leu1096=)
|
|
|
NM_000492.4(CFTR):c.3287del (p.Leu1096fs)
|
rs397508529
|
|
NM_000492.4(CFTR):c.3288G>T (p.Leu1096=)
|
rs936512397
|
|
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn)
|
rs113993958
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.328del (p.Asp110fs)
|
rs397508530
|
|
NM_000492.4(CFTR):c.3290G>C (p.Arg1097Pro)
|
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3292T>G (p.Trp1098Gly)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)
|
rs397508532
|
|
NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)
|
|
|
NM_000492.4(CFTR):c.3293G>T (p.Trp1098Leu)
|
|
|
NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3294del (p.Trp1098fs)
|
rs397508534
|
|
NM_000492.4(CFTR):c.3297C>T (p.Phe1099=)
|
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
|
|
|
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)
|
rs36210737
|
|
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile)
|
rs777445862
|
|
NM_000492.4(CFTR):c.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly)
|
|
|
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)
|
rs397508536
|
|
NM_000492.4(CFTR):c.3306A>C (p.Arg1102Ser)
|
|
|
NM_000492.4(CFTR):c.3308T>G (p.Ile1103Arg)
|
|
|
NM_000492.4(CFTR):c.330C>G (p.Asp110Glu)
|
|
|
NM_000492.4(CFTR):c.330C>T (p.Asp110=)
|
|
|
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)
|
rs397508538
|
|
NM_000492.4(CFTR):c.3314T>G (p.Met1105Arg)
|
rs397508539
|
|
NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile)
|
rs1792392768
|
|
NM_000492.4(CFTR):c.3315del (p.Met1105fs)
|
rs397508540
|
|
NM_000492.4(CFTR):c.3318T>A (p.Ile1106=)
|
rs2116085302
|
|
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)
|
rs1584822486
|
|
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)
|
rs397508541
|
|
NM_000492.4(CFTR):c.3322G>A (p.Val1108Ile)
|
|
|
NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs)
|
|
|
NM_000492.4(CFTR):c.3322del (p.Val1108fs)
|
rs2116085331
|
|
NM_000492.4(CFTR):c.3324C>A (p.Val1108=)
|
rs2116085344
|
|
NM_000492.4(CFTR):c.3324C>T (p.Val1108=)
|
rs2116085344
|
|
NM_000492.4(CFTR):c.3324del (p.Ile1109fs)
|
rs1554392282
|
|
NM_000492.4(CFTR):c.3326T>C (p.Ile1109Thr)
|
|
|
NM_000492.4(CFTR):c.3327C>T (p.Ile1109=)
|
rs568020045
|
|
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del)
|
rs1562914829
|
|
NM_000492.4(CFTR):c.332del (p.Pro111fs)
|
rs2116670123
|
|
NM_000492.4(CFTR):c.3330C>T (p.Phe1110=)
|
rs1584822500
|
|
NM_000492.4(CFTR):c.3333C>T (p.Phe1111=)
|
rs144135742
|
|
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser)
|
rs1792393459
|
|
NM_000492.4(CFTR):c.3340G>C (p.Val1114Leu)
|
|
|
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs)
|
rs1562914838
|
|
NM_000492.4(CFTR):c.3349A>C (p.Ile1117Leu)
|
|
|
NM_000492.4(CFTR):c.3349A>G (p.Ile1117Val)
|
|
|
NM_000492.4(CFTR):c.3351_3352del (p.Ser1118fs)
|
|
|
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3355A>T (p.Ile1119Phe)
|
|
|
NM_000492.4(CFTR):c.3357_3359delinsA (p.Leu1120fs)
|
|
|
NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del)
|
rs1554392295
|
|
NM_000492.4(CFTR):c.3364A>G (p.Thr1122Ala)
|
rs1584822533
|
|
NM_000492.4(CFTR):c.3367+10A>G
|
|
|
NM_000492.4(CFTR):c.3367+10A>T
|
rs2116085669
|
|
NM_000492.4(CFTR):c.3367+18_3367+23del
|
|
|
NM_000492.4(CFTR):c.3367+19C>T
|
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3367+1G>T
|
|
|
NM_000492.4(CFTR):c.3367+2T>A
|
rs397508544
|
|
NM_000492.4(CFTR):c.3367+3A>G
|
rs1194763712
|
|
NM_000492.4(CFTR):c.3367+6A>G
|
rs397508545
|
|
NM_000492.4(CFTR):c.3367+8G>A
|
rs2116085662
|
|
NM_000492.4(CFTR):c.3367+9A>G
|
|
|
NM_000492.4(CFTR):c.3367G>C (p.Gly1123Arg)
|
rs397508546
|
|
NM_000492.4(CFTR):c.3368-13del
|
|
|
NM_000492.4(CFTR):c.3368-14T>C
|
|
|
NM_000492.4(CFTR):c.3368-17C>G
|
|
|
NM_000492.4(CFTR):c.3368-17C>T
|
|
|
NM_000492.4(CFTR):c.3368-19G>A
|
rs374104839
|
|
NM_000492.4(CFTR):c.3368-19G>C
|
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-3T>C
|
rs2116096154
|
|
NM_000492.4(CFTR):c.3368-4A>G
|
rs748811222
|
|
NM_000492.4(CFTR):c.3368-581G>A
|
|
|
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)
|
rs397508548
|
|
NM_000492.4(CFTR):c.3372A>G (p.Glu1124=)
|
|
|
NM_000492.4(CFTR):c.3374G>A (p.Gly1125Glu)
|
|
|
NM_000492.4(CFTR):c.3375A>C (p.Gly1125=)
|
rs751140170
|
|
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)
|
rs397508549
|
|
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.3389_3402del (p.Gly1130fs)
|
|
|
NM_000492.4(CFTR):c.3392T>C (p.Ile1131Thr)
|
|
|
NM_000492.4(CFTR):c.3398_3399del (p.Leu1133fs)
|
|
|
NM_000492.4(CFTR):c.3399G>A (p.Leu1133=)
|
rs1792456177
|
|
NM_000492.4(CFTR):c.3400_3401delinsGTA (p.Thr1134fs)
|
rs397508552
|
|
NM_000492.4(CFTR):c.3401C>A (p.Thr1134Asn)
|
|
|
NM_000492.4(CFTR):c.3403T>C (p.Leu1135=)
|
|
|
NM_000492.4(CFTR):c.3404T>A (p.Leu1135Ter)
|
rs1792456313
|
|
NM_000492.4(CFTR):c.3405A>G (p.Leu1135=)
|
|
|
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
|
|
|
NM_000492.4(CFTR):c.3408C>T (p.Ala1136=)
|
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
|
|
|
NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs)
|
|
|
NM_000492.4(CFTR):c.3413A>G (p.Asn1138Ser)
|
|
|
NM_000492.4(CFTR):c.3418A>T (p.Met1140Leu)
|
|
|
NM_000492.4(CFTR):c.3419T>A (p.Met1140Lys)
|
rs397508558
|
|
NM_000492.4(CFTR):c.3419_3421del (p.Met1140del)
|
rs397508557
|
|
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile)
|
rs1554392775
|
|
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs)
|
rs397508559
|
|
NM_000492.4(CFTR):c.3423T>C (p.Ser1141=)
|
|
|
NM_000492.4(CFTR):c.3426A>G (p.Thr1142=)
|
rs2116096536
|
|
NM_000492.4(CFTR):c.3427T>C (p.Leu1143=)
|
rs768276513
|
|
NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)
|
|
|
NM_000492.4(CFTR):c.3428T>C (p.Leu1143Ser)
|
|
|
NM_000492.4(CFTR):c.342G>A (p.Lys114=)
|
|
|
NM_000492.4(CFTR):c.342G>C (p.Lys114Asn)
|
|
|
NM_000492.4(CFTR):c.342GGA[1] (p.Glu116del)
|
rs397508563
|
|
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter)
|
rs397508560
|
|
NM_000492.4(CFTR):c.3432G>A (p.Gln1144=)
|
|
|
NM_000492.4(CFTR):c.3434G>A (p.Trp1145Ter)
|
|
|
NM_000492.4(CFTR):c.3434G>C (p.Trp1145Ser)
|
|
|
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)
|
rs397508561
|
|
NM_000492.4(CFTR):c.3437C>T (p.Ala1146Val)
|
|
|
NM_000492.4(CFTR):c.3439G>A (p.Val1147Ile)
|
rs397508562
|
|
NM_000492.4(CFTR):c.3447C>A (p.Ser1149=)
|
|
|
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.345G>A (p.Glu115=)
|
rs2116670184
|
|
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.3461A>G (p.Asp1154Gly)
|
rs397508569
|
|
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
|
|
|
NM_000492.4(CFTR):c.3468+11T>C
|
|
|
NM_000492.4(CFTR):c.3468+12C>T
|
rs1415573737
|
|
NM_000492.4(CFTR):c.3468+13A>G
|
|
|
NM_000492.4(CFTR):c.3468+180A>G
|
|
|
NM_000492.4(CFTR):c.3468+1G>A
|
rs1554392798
|
|
NM_000492.4(CFTR):c.3468+1G>T
|
rs1554392798
|
|
NM_000492.4(CFTR):c.3468+2T>C
|
rs1584824301
|
|
NM_000492.4(CFTR):c.3468+3566G>A
|
|
|
NM_000492.4(CFTR):c.3468+5G>A
|
rs1554392801
|
|
NM_000492.4(CFTR):c.3468+6041A>G
|
|
|
NM_000492.4(CFTR):c.3468_3468+6delinsATAAAAAGCTTATAAAAAG
|
|
|
NM_000492.4(CFTR):c.3469-10T>C
|
|
|
NM_000492.4(CFTR):c.3469-11T>G
|
|
|
NM_000492.4(CFTR):c.3469-14T>C
|
|
|
NM_000492.4(CFTR):c.3469-16_3469-15del
|
rs2116128700
|
|
NM_000492.4(CFTR):c.3469-1G>C
|
|
|
NM_000492.4(CFTR):c.3469-1G>T
|
|
|
NM_000492.4(CFTR):c.3469-2880_3717+2150del
|
|
|
NM_000492.4(CFTR):c.3469-2A>C
|
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
NM_000492.4(CFTR):c.3469-3146G>A
|
|
|
NM_000492.4(CFTR):c.3469-3C>A
|
|
|
NM_000492.4(CFTR):c.3469-4904G>A
|
|
|
NM_000492.4(CFTR):c.3469-4del
|
|
|
NM_000492.4(CFTR):c.3469-52_3717+5032dup
|
|
|
NM_000492.4(CFTR):c.3469-5T>C
|
|
|
NM_000492.4(CFTR):c.3469-7A>G
|
|
|
NM_000492.4(CFTR):c.3469-9T>G
|
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.346G>C (p.Glu116Gln)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3471G>A (p.Met1157Ile)
|
|
|
NM_000492.4(CFTR):c.3472C>A (p.Arg1158=)
|
rs79850223
|
|
NM_000492.4(CFTR):c.3474A>T (p.Arg1158=)
|
rs2116128804
|
|
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)
|
rs397508572
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.3480G>A (p.Val1160=)
|
rs1298788637
|
|
NM_000492.4(CFTR):c.3481A>C (p.Ser1161Arg)
|
rs397508574
|
|
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.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
NM_000492.4(CFTR):c.3487G>A (p.Val1163Ile)
|
|
|
NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter)
|
rs387906379
|
|
NM_000492.4(CFTR):c.3493_3494delinsT (p.Lys1165fs)
|
|
|
NM_000492.4(CFTR):c.3494A>C (p.Lys1165Thr)
|
rs753508195
|
|
NM_000492.4(CFTR):c.3495del (p.Lys1165fs)
|
rs1057516970
|
|
NM_000492.4(CFTR):c.3497T>G (p.Phe1166Cys)
|
rs397508577
|
|
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.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn)
|
rs2116129005
|
|
NM_000492.4(CFTR):c.3504C>T (p.Asp1168=)
|
|
|
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>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3513A>C (p.Thr1171=)
|
|
|
NM_000492.4(CFTR):c.3514G>C (p.Glu1172Gln)
|
|
|
NM_000492.4(CFTR):c.3518G>A (p.Gly1173Asp)
|
|
|
NM_000492.4(CFTR):c.351C>T (p.Arg117=)
|
rs2116670233
|
|
NM_000492.4(CFTR):c.3523C>T (p.Pro1175Ser)
|
|
|
NM_000492.4(CFTR):c.3524C>T (p.Pro1175Leu)
|
|
|
NM_000492.4(CFTR):c.3525_3537del (p.Thr1176fs)
|
|
|
NM_000492.4(CFTR):c.3527C>G (p.Thr1176Ser)
|
|
|
NM_000492.4(CFTR):c.3528C>T (p.Thr1176=)
|
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3529A>G (p.Lys1177Glu)
|
rs397508578
|
|
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter)
|
rs397508578
|
|
NM_000492.4(CFTR):c.3530del (p.Lys1177fs)
|
rs397508579
|
|
NM_000492.4(CFTR):c.3531G>A (p.Lys1177=)
|
|
|
NM_000492.4(CFTR):c.3532T>A (p.Ser1178Thr)
|
|
|
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3533C>A (p.Ser1178Ter)
|
rs1057516609
|
|
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)
|
rs121908782
|
|
NM_000492.4(CFTR):c.3539_3554del (p.Lys1180fs)
|
|
|
NM_000492.4(CFTR):c.3540del (p.Lys1180fs)
|
rs397508580
|
|
NM_000492.4(CFTR):c.3543A>G (p.Pro1181=)
|
|
|
NM_000492.4(CFTR):c.3544T>C (p.Tyr1182His)
|
rs770167300
|
|
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter)
|
rs397508581
|
|
NM_000492.4(CFTR):c.3546C>T (p.Tyr1182=)
|
rs397508581
|
|
NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer)
|
rs1792671655
|
|
NM_000492.4(CFTR):c.3547A>T (p.Lys1183Ter)
|
|
|
NM_000492.4(CFTR):c.354T>A (p.Ser118=)
|
|
|
NM_000492.4(CFTR):c.354T>C (p.Ser118=)
|
rs2116670246
|
|
NM_000492.4(CFTR):c.354dup (p.Ile119fs)
|
|
|
NM_000492.4(CFTR):c.3552T>C (p.Asn1184=)
|
|
|
NM_000492.4(CFTR):c.3555C>A (p.Gly1185=)
|
|
|
NM_000492.4(CFTR):c.3555C>T (p.Gly1185=)
|
rs2116129370
|
|
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter)
|
rs397508582
|
|
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.3567A>G (p.Lys1189=)
|
|
|
NM_000492.4(CFTR):c.3567dup (p.Val1190fs)
|
|
|
NM_000492.4(CFTR):c.3568G>A (p.Val1190Ile)
|
|
|
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
|
NM_000492.4(CFTR):c.356T>A (p.Ile119Asn)
|
|
|
NM_000492.4(CFTR):c.356T>G (p.Ile119Ser)
|
|
|
NM_000492.4(CFTR):c.3571dup (p.Met1191fs)
|
|
|
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.357C>A (p.Ile119=)
|
rs1264742569
|
|
NM_000492.4(CFTR):c.3585T>A (p.Asn1195Lys)
|
|
|
NM_000492.4(CFTR):c.3587C>A (p.Ser1196Ter)
|
rs121908763
|
|
NM_000492.4(CFTR):c.3588A>G (p.Ser1196=)
|
|
|
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.3592del (p.His1197_Val1198insTer)
|
rs397508585
|
|
NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln)
|
|
|
NM_000492.4(CFTR):c.3598_3599delinsG (p.Lys1200fs)
|
rs1584830149
|
|
NM_000492.4(CFTR):c.3599_3600delinsG (p.Lys1200fs)
|
rs1584830154
|
|
NM_000492.4(CFTR):c.359C>T (p.Ala120Val)
|
rs1265244783
|
|
NM_000492.4(CFTR):c.3600A>G (p.Lys1200=)
|
rs397508586
|
|
NM_000492.4(CFTR):c.3600A>T (p.Lys1200Asn)
|
|
|
NM_000492.4(CFTR):c.3600del (p.Asp1201fs)
|
rs2116129596
|
|
NM_000492.4(CFTR):c.3602del (p.Asp1201fs)
|
|
|
NM_000492.4(CFTR):c.3605A>G (p.Asp1202Gly)
|
|
|
NM_000492.4(CFTR):c.3605del (p.Asp1202fs)
|
rs397508587
|
|
NM_000492.4(CFTR):c.3606C>T (p.Asp1202=)
|
rs2116129667
|
|
NM_000492.4(CFTR):c.3609C>T (p.Ile1203=)
|
|
|
NM_000492.4(CFTR):c.360G>C (p.Ala120=)
|
|
|
NM_000492.4(CFTR):c.360G>T (p.Ala120=)
|
|
|
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter)
|
rs121908764
|
|
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.3615C>G (p.Pro1205=)
|
|
|
NM_000492.4(CFTR):c.3615C>T (p.Pro1205=)
|
|
|
NM_000492.4(CFTR):c.3617C>A (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3618A>T (p.Ser1206=)
|
|
|
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs)
|
rs397508589
|
|
NM_000492.4(CFTR):c.361A>G (p.Ile121Val)
|
rs574654063
|
|
NM_000492.4(CFTR):c.3621G>A (p.Gly1207=)
|
|
|
NM_000492.4(CFTR):c.3621G>T (p.Gly1207=)
|
|
|
NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)
|
|
|
NM_000492.4(CFTR):c.3623G>C (p.Gly1208Ala)
|
|
|
NM_000492.4(CFTR):c.3623del (p.Gly1208fs)
|
rs35396083
|
|
NM_000492.4(CFTR):c.3623dup (p.Gln1209fs)
|
|
|
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu)
|
rs151264397
|
|
NM_000492.4(CFTR):c.3628A>T (p.Met1210Leu)
|
|
|
NM_000492.4(CFTR):c.3636C>G (p.Val1212=)
|
|
|
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.3648A>T (p.Thr1216=)
|
|
|
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn)
|
rs397508592
|
|
NM_000492.4(CFTR):c.364T>C (p.Tyr122His)
|
rs397508592
|
|
NM_000492.4(CFTR):c.3657C>T (p.Tyr1219=)
|
rs2116129887
|
|
NM_000492.4(CFTR):c.3661_3662del (p.Glu1221fs)
|
|
|
NM_000492.4(CFTR):c.3666T>C (p.Gly1222=)
|
|
|
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)
|
rs79660178
|
|
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.3682G>T (p.Glu1228Ter)
|
rs759116351
|
|
NM_000492.4(CFTR):c.3684G>A (p.Glu1228=)
|
|
|
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=)
|
rs139322772
|
|
NM_000492.4(CFTR):c.3688A>G (p.Ile1230Val)
|
|
|
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
|
|
|
NM_000492.4(CFTR):c.3690T>C (p.Ile1230=)
|
|
|
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro)
|
rs1792676456
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.3697T>C (p.Ser1233Pro)
|
|
|
NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs)
|
|
|
NM_000492.4(CFTR):c.3699A>G (p.Ser1233=)
|
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3706C>G (p.Pro1236Ala)
|
|
|
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg)
|
rs193922519
|
|
NM_000492.4(CFTR):c.3711C>A (p.Gly1237=)
|
rs1316425599
|
|
NM_000492.4(CFTR):c.3711C>G (p.Gly1237=)
|
|
|
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter)
|
rs121908766
|
|
NM_000492.4(CFTR):c.3717+11A>T
|
|
|
NM_000492.4(CFTR):c.3717+13C>T
|
|
|
NM_000492.4(CFTR):c.3717+14A>G
|
|
|
NM_000492.4(CFTR):c.3717+16T>G
|
rs749483814
|
|
NM_000492.4(CFTR):c.3717+1G>A
|
rs750558115
|
|
NM_000492.4(CFTR):c.3717+3055_3717+3064delinsTGTCTCAGTGGGTGGGAAAGGGTGTCTCAGA
|
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3717+40A>T
|
|
|
NM_000492.4(CFTR):c.3717+4A>G
|
rs387906362
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3717+6029A>G
|
|
|
NM_000492.4(CFTR):c.3718-14C>T
|
|
|
NM_000492.4(CFTR):c.3718-15A>C
|
|
|
NM_000492.4(CFTR):c.3718-18A>G
|
|
|
NM_000492.4(CFTR):c.3718-1G>A
|
rs387906369
|
|
NM_000492.4(CFTR):c.3718-1G>C
|
|
|
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT
|
rs397515289
|
|
NM_000492.4(CFTR):c.3718-2476G>T
|
rs949635279
|
|
NM_000492.4(CFTR):c.3718-2477C>A
|
rs75039782
|
|
NM_000492.4(CFTR):c.3718-24G>T
|
rs374013084
|
|
NM_000492.4(CFTR):c.3718-24_3873+601del
|
rs1554395323
|
|
NM_000492.4(CFTR):c.3718-3598C>T
|
rs2116156664
|
|
NM_000492.4(CFTR):c.3718-3T>C
|
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
NM_000492.4(CFTR):c.3718-5034G>A
|
|
|
NM_000492.4(CFTR):c.3718-5_3725del
|
rs2116166586
|
|
NM_000492.4(CFTR):c.3718-7104A>T
|
|
|
NM_000492.4(CFTR):c.3718-917T>C
|
|
|
NM_000492.4(CFTR):c.3718-9A>T
|
|
|
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.3725del (p.Leu1242fs)
|
rs2116166673
|
|
NM_000492.4(CFTR):c.3726C>G (p.Leu1242=)
|
rs758818517
|
|
NM_000492.4(CFTR):c.3726C>T (p.Leu1242=)
|
rs758818517
|
|
NM_000492.4(CFTR):c.3727T>C (p.Leu1243=)
|
rs1392953776
|
|
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)
|
rs1562923164
|
|
NM_000492.4(CFTR):c.3728T>G (p.Leu1243Trp)
|
|
|
NM_000492.4(CFTR):c.372C>T (p.Gly124=)
|
rs1060503162
|
|
NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg)
|
rs397508599
|
|
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)
|
rs267606723
|
|
NM_000492.4(CFTR):c.3735A>G (p.Arg1245=)
|
|
|
NM_000492.4(CFTR):c.3736del (p.Thr1246fs)
|
rs2116166758
|
|
NM_000492.4(CFTR):c.3738T>C (p.Thr1246=)
|
|
|
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg)
|
rs397508601
|
|
NM_000492.4(CFTR):c.3739G>T (p.Gly1247Ter)
|
|
|
NM_000492.4(CFTR):c.3740G>A (p.Gly1247Glu)
|
|
|
NM_000492.4(CFTR):c.3740G>T (p.Gly1247Val)
|
|
|
NM_000492.4(CFTR):c.3741A>G (p.Gly1247=)
|
|
|
NM_000492.4(CFTR):c.3741A>T (p.Gly1247=)
|
rs1792931608
|
|
NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs)
|
rs2116166806
|
|
NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)
|
|
|
NM_000492.4(CFTR):c.3744A>G (p.Ser1248=)
|
|
|
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3747G>A (p.Gly1249=)
|
rs794727373
|
|
NM_000492.4(CFTR):c.3747del (p.Lys1250fs)
|
rs797045159
|
|
NM_000492.4(CFTR):c.3749_3751dup (p.Lys1250dup)
|
rs1584836961
|
|
NM_000492.4(CFTR):c.3752G>C (p.Ser1251Thr)
|
|
|
NM_000492.4(CFTR):c.3754A>C (p.Thr1252Pro)
|
rs397508603
|
|
NM_000492.4(CFTR):c.3756T>C (p.Thr1252=)
|
|
|
NM_000492.4(CFTR):c.3759G>T (p.Leu1253Phe)
|
|
|
NM_000492.4(CFTR):c.375A>G (p.Ile125Met)
|
|
|
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)
|
rs397508604
|
|
NM_000492.4(CFTR):c.3762A>G (p.Leu1254=)
|
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3765A>G (p.Ser1255=)
|
|
|
NM_000492.4(CFTR):c.3767C>G (p.Ala1256Gly)
|
rs773852510
|
|
NM_000492.4(CFTR):c.3767dup (p.Leu1258fs)
|
rs387906370
|
|
NM_000492.4(CFTR):c.3772T>C (p.Leu1258=)
|
rs202074317
|
|
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)
|
rs121908789
|
|
NM_000492.4(CFTR):c.3776G>C (p.Arg1259Thr)
|
rs1470171438
|
|
NM_000492.4(CFTR):c.3777ACT[1] (p.Leu1261del)
|
rs397508610
|
|
NM_000492.4(CFTR):c.3779T>C (p.Leu1260Pro)
|
|
|
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala)
|
rs397508609
|
|
NM_000492.4(CFTR):c.3780A>C (p.Leu1260=)
|
|
|
NM_000492.4(CFTR):c.3782T>G (p.Leu1261Arg)
|
|
|
NM_000492.4(CFTR):c.3782_3783del (p.Leu1261fs)
|
|
|
NM_000492.4(CFTR):c.3783G>C (p.Leu1261=)
|
rs771812900
|
|
NM_000492.4(CFTR):c.3787A>G (p.Thr1263Ala)
|
rs1554395363
|
|
NM_000492.4(CFTR):c.3788del (p.Thr1263fs)
|
|
|
NM_000492.4(CFTR):c.378C>T (p.Gly126=)
|
|
|
NM_000492.4(CFTR):c.3792A>G (p.Glu1264=)
|
|
|
NM_000492.4(CFTR):c.3792del (p.Gly1265fs)
|
|
|
NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)
|
|
|
NM_000492.4(CFTR):c.3793G>T (p.Gly1265Ter)
|
|
|
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.3795del (p.Glu1266fs)
|
|
|
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)
|
rs1584837090
|
|
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_000492.4(CFTR):c.3798A>G (p.Glu1266=)
|
|
|
NM_000492.4(CFTR):c.379T>C (p.Leu127=)
|
rs2116670348
|
|
NM_000492.4(CFTR):c.3800T>A (p.Ile1267Asn)
|
|
|
NM_000492.4(CFTR):c.3801C>A (p.Ile1267=)
|
|
|
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
|
|
|
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn)
|
rs1562923253
|
|
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met)
|
rs1800129
|
|
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=)
|
rs1800129
|
|
NM_000492.4(CFTR):c.3809A>T (p.Asp1270Val)
|
|
|
NM_000492.4(CFTR):c.380T>G (p.Leu127Ter)
|
rs397508611
|
|
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup)
|
rs193922521
|
|
NM_000492.4(CFTR):c.3810T>C (p.Asp1270=)
|
|
|
NM_000492.4(CFTR):c.3811G>A (p.Gly1271Ser)
|
|
|
NM_000492.4(CFTR):c.3815T>G (p.Val1272Gly)
|
|
|
NM_000492.4(CFTR):c.3816G>A (p.Val1272=)
|
|
|
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs)
|
rs397508612
|
|
NM_000492.4(CFTR):c.3819T>G (p.Ser1273=)
|
|
|
NM_000492.4(CFTR):c.381A>G (p.Leu127=)
|
|
|
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter)
|
rs397508613
|
|
NM_000492.4(CFTR):c.3824A>G (p.Asp1275Gly)
|
|
|
NM_000492.4(CFTR):c.3828A>T (p.Ser1276=)
|
|
|
NM_000492.4(CFTR):c.3829A>G (p.Ile1277Val)
|
|
|
NM_000492.4(CFTR):c.3829del (p.Ser1276_Ile1277insTer)
|
rs397508614
|
|
NM_000492.4(CFTR):c.3836T>A (p.Leu1279Ter)
|
|
|
NM_000492.4(CFTR):c.3836T>C (p.Leu1279Ser)
|
rs1286786026
|
|
NM_000492.4(CFTR):c.3837G>T (p.Leu1279Phe)
|
|
|
NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter)
|
rs1584837173
|
|
NM_000492.4(CFTR):c.3840A>G (p.Gln1280=)
|
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3842A>C (p.Gln1281Pro)
|
|
|
NM_000492.4(CFTR):c.3842A>G (p.Gln1281Arg)
|
rs752127256
|
|
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)
|
rs397508616
|
|
NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter)
|
rs1792935619
|
|
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.3848G>T (p.Arg1283Met)
|
rs77902683
|
|
NM_000492.4(CFTR):c.3849G>A (p.Arg1283=)
|
|
|
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser)
|
rs1792935893
|
|
NM_000492.4(CFTR):c.384C>T (p.Cys128=)
|
rs1388235792
|
|
NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs)
|
rs1057517404
|
|
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.3855C>G (p.Ala1285=)
|
|
|
NM_000492.4(CFTR):c.3855del (p.Phe1286fs)
|
rs397508618
|
|
NM_000492.4(CFTR):c.3857T>C (p.Phe1286Ser)
|
rs121909028
|
|
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.3859G>T (p.Gly1287Ter)
|
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.3871C>T (p.Gln1291Ter)
|
rs397508620
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.3873+10A>G
|
rs1584837299
|
|
NM_000492.4(CFTR):c.3873+18G>A
|
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3873+1G>T
|
rs143570767
|
|
NM_000492.4(CFTR):c.3873+20C>T
|
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3873+33A>G
|
rs397508622
|
|
NM_000492.4(CFTR):c.3873+4987A>T
|
|
|
NM_000492.4(CFTR):c.3873+5G>A
|
|
|
NM_000492.4(CFTR):c.3874-105T>G
|
rs1584842682
|
|
NM_000492.4(CFTR):c.3874-14_3874-10del
|
|
|
NM_000492.4(CFTR):c.3874-19C>A
|
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3874-26dup
|
rs1554396371
|
|
NM_000492.4(CFTR):c.3874-27TTC[2]
|
rs397508623
|
|
NM_000492.4(CFTR):c.3874-2A>C
|
rs1554396384
|
|
NM_000492.4(CFTR):c.3874-2A>G
|
rs1554396384
|
|
NM_000492.4(CFTR):c.3874-3828G>T
|
|
|
NM_000492.4(CFTR):c.3874-3854C>G
|
|
|
NM_000492.4(CFTR):c.3874-4A>C
|
rs201381687
|
|
NM_000492.4(CFTR):c.3874-8T>A
|
rs397508625
|
|
NM_000492.4(CFTR):c.3874-8del
|
rs1562926012
|
|
NM_000492.4(CFTR):c.387T>C (p.Leu129=)
|
|
|
NM_000492.4(CFTR):c.387del (p.Leu130fs)
|
rs397508627
|
|
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs)
|
rs1793108213
|
|
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs)
|
rs387906373
|
|
NM_000492.4(CFTR):c.3883del (p.Ile1295fs)
|
rs397508630
|
|
NM_000492.4(CFTR):c.3887T>C (p.Phe1296Ser)
|
|
|
NM_000492.4(CFTR):c.3889del (p.Ser1297fs)
|
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.388C>G (p.Leu130Val)
|
rs397508632
|
|
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs)
|
rs397508633
|
|
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.3900T>C (p.Phe1300=)
|
|
|
NM_000492.4(CFTR):c.3900dup (p.Arg1301Ter)
|
rs1554396393
|
|
NM_000492.4(CFTR):c.3904A>G (p.Lys1302Glu)
|
|
|
NM_000492.4(CFTR):c.3907A>C (p.Asn1303His)
|
rs121909042
|
|
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr)
|
rs397508636
|
|
NM_000492.4(CFTR):c.3908del (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3909C>T (p.Asn1303=)
|
|
|
NM_000492.4(CFTR):c.390C>G (p.Leu130=)
|
rs1411911535
|
|
NM_000492.4(CFTR):c.3910T>C (p.Leu1304=)
|
rs1478450897
|
|
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.3918C>T (p.Pro1306=)
|
rs1800132
|
|
NM_000492.4(CFTR):c.391T>C (p.Phe131Leu)
|
|
|
NM_000492.4(CFTR):c.3920A>G (p.Tyr1307Cys)
|
rs397508641
|
|
NM_000492.4(CFTR):c.3921T>A (p.Tyr1307Ter)
|
rs397508642
|
|
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter)
|
rs193922732
|
|
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)
|
rs397508645
|
|
NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter)
|
|
|
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.3937C>T (p.Gln1313Ter)
|
rs121909026
|
|
NM_000492.4(CFTR):c.393del (p.Phe131fs)
|
rs397508647
|
|
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)
|
rs754392413
|
|
NM_000492.4(CFTR):c.3945A>C (p.Ile1315=)
|
|
|
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met)
|
rs1554396417
|
|
NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter)
|
rs121909010
|
|
NM_000492.4(CFTR):c.3949A>T (p.Lys1317Ter)
|
rs1793110279
|
|
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala)
|
rs397508648
|
|
NM_000492.4(CFTR):c.3953T>G (p.Val1318Gly)
|
|
|
NM_000492.4(CFTR):c.3954T>G (p.Val1318=)
|
|
|
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu)
|
rs397508649
|
|
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs)
|
rs193922523
|
|
NM_000492.4(CFTR):c.3958G>A (p.Asp1320Asn)
|
|
|
NM_000492.4(CFTR):c.3958G>C (p.Asp1320His)
|
|
|
NM_000492.4(CFTR):c.3960T>C (p.Asp1320=)
|
rs2116195757
|
|
NM_000492.4(CFTR):c.3963+15T>C
|
rs1269502695
|
|
NM_000492.4(CFTR):c.3963+19A>G
|
|
|
NM_000492.4(CFTR):c.3963+1G>A
|
rs672601314
|
|
NM_000492.4(CFTR):c.3963+1G>C
|
rs672601314
|
|
NM_000492.4(CFTR):c.3963+1G>T
|
|
|
NM_000492.4(CFTR):c.3963+20T>G
|
|
|
NM_000492.4(CFTR):c.3963+2T>A
|
rs397508650
|
|
NM_000492.4(CFTR):c.3963+2T>G
|
rs397508650
|
|
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.3964-17A>G
|
|
|
NM_000492.4(CFTR):c.3964-18T>C
|
|
|
NM_000492.4(CFTR):c.3964-18del
|
|
|
NM_000492.4(CFTR):c.3964-1_3964delinsTT
|
|
|
NM_000492.4(CFTR):c.3964-20A>C
|
|
|
NM_000492.4(CFTR):c.3964-3999TA[4]
|
|
|
NM_000492.4(CFTR):c.3964-3C>G
|
rs397508652
|
|
NM_000492.4(CFTR):c.3964-78_4242+577del
|
|
|
NM_000492.4(CFTR):c.3964-7A>G
|
|
|
NM_000492.4(CFTR):c.3964-7A>T
|
rs2116220618
|
|
NM_000492.4(CFTR):c.3964-9T>A
|
rs1562928845
|
|
NM_000492.4(CFTR):c.3964-9T>C
|
|
|
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.3966T>A (p.Val1322=)
|
|
|
NM_000492.4(CFTR):c.3966_4242+2del
|
rs1562928854
|
|
NM_000492.4(CFTR):c.396T>C (p.Ile132=)
|
|
|
NM_000492.4(CFTR):c.396del (p.Ile132fs)
|
rs1798854379
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3972C>G (p.Leu1324=)
|
|
|
NM_000492.4(CFTR):c.3972C>T (p.Leu1324=)
|
|
|
NM_000492.4(CFTR):c.3972del (p.Arg1325fs)
|
rs1584848754
|
|
NM_000492.4(CFTR):c.3973A>C (p.Arg1325=)
|
rs1231511097
|
|
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser)
|
rs1793339514
|
|
NM_000492.4(CFTR):c.3976del (p.Ser1326fs)
|
rs397508654
|
|
NM_000492.4(CFTR):c.3978T>C (p.Ser1326=)
|
|
|
NM_000492.4(CFTR):c.3980T>C (p.Val1327Ala)
|
|
|
NM_000492.4(CFTR):c.3980T>G (p.Val1327Gly)
|
|
|
NM_000492.4(CFTR):c.3981G>A (p.Val1327=)
|
rs2116220727
|
|
NM_000492.4(CFTR):c.3982_3984delinsTT (p.Ile1328fs)
|
rs397508655
|
|
NM_000492.4(CFTR):c.3984A>G (p.Ile1328Met)
|
|
|
NM_000492.4(CFTR):c.3985G>C (p.Glu1329Gln)
|
rs397508656
|
|
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)
|
rs375661578
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.3989A>G (p.Gln1330Arg)
|
|
|
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile)
|
rs1369611499
|
|
NM_000492.4(CFTR):c.3996T>C (p.Pro1332=)
|
rs2116220796
|
|
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp)
|
rs193922524
|
|
NM_000492.4(CFTR):c.3999del (p.Lys1334fs)
|
rs886042527
|
|
NM_000492.4(CFTR):c.39C>T (p.Ser13=)
|
|
|
NM_000492.4(CFTR):c.3G>A (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.3G>T (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4007A>C (p.Asp1336Ala)
|
|
|
NM_000492.4(CFTR):c.4007_4010del (p.Asp1336fs)
|
|
|
NM_000492.4(CFTR):c.4008C>T (p.Asp1336=)
|
|
|
NM_000492.4(CFTR):c.4009T>A (p.Phe1337Ile)
|
|
|
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val)
|
rs397508659
|
|
NM_000492.4(CFTR):c.400A>C (p.Arg134=)
|
|
|
NM_000492.4(CFTR):c.4011T>C (p.Phe1337=)
|
|
|
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.4020G>A (p.Val1340=)
|
|
|
NM_000492.4(CFTR):c.4023del (p.Asp1341fs)
|
|
|
NM_000492.4(CFTR):c.4024G>A (p.Gly1342Arg)
|
|
|
NM_000492.4(CFTR):c.4025G>T (p.Gly1342Val)
|
|
|
NM_000492.4(CFTR):c.4025_4028dup (p.Cys1344fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.4026G>A (p.Gly1342=)
|
|
|
NM_000492.4(CFTR):c.4026G>C (p.Gly1342=)
|
rs1584848821
|
|
NM_000492.4(CFTR):c.4026G>T (p.Gly1342=)
|
|
|
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp)
|
rs773458471
|
|
NM_000492.4(CFTR):c.4028G>C (p.Gly1343Ala)
|
|
|
NM_000492.4(CFTR):c.4028del (p.Gly1343fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.402G>A (p.Arg134=)
|
|
|
NM_000492.4(CFTR):c.4030T>G (p.Cys1344Gly)
|
rs1793341222
|
|
NM_000492.4(CFTR):c.4032T>A (p.Cys1344Ter)
|
|
|
NM_000492.4(CFTR):c.4034T>C (p.Val1345Ala)
|
|
|
NM_000492.4(CFTR):c.4035C>A (p.Val1345=)
|
rs2116220979
|
|
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)
|
rs1554397497
|
|
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs)
|
rs397508662
|
|
NM_000492.4(CFTR):c.4036dup (p.Leu1346fs)
|
|
|
NM_000492.4(CFTR):c.4037T>C (p.Leu1346Pro)
|
|
|
NM_000492.4(CFTR):c.4040G>A (p.Ser1347Asn)
|
|
|
NM_000492.4(CFTR):c.4040_4041del (p.Ser1347fs)
|
rs397508664
|
|
NM_000492.4(CFTR):c.4042C>A (p.His1348Asn)
|
|
|
NM_000492.4(CFTR):c.4042del (p.His1348fs)
|
rs397508665
|
|
NM_000492.4(CFTR):c.4044T>C (p.His1348=)
|
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4046del (p.Gly1349fs)
|
rs1793342111
|
|
NM_000492.4(CFTR):c.4047C>A (p.Gly1349=)
|
|
|
NM_000492.4(CFTR):c.4047C>T (p.Gly1349=)
|
rs2116221068
|
|
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu)
|
rs397508666
|
|
NM_000492.4(CFTR):c.4051A>T (p.Lys1351Ter)
|
rs397508666
|
|
NM_000492.4(CFTR):c.4052del (p.Lys1351fs)
|
|
|
NM_000492.4(CFTR):c.4053G>A (p.Lys1351=)
|
|
|
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.4054C>T (p.Gln1352Ter)
|
rs751098333
|
|
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.4057T>C (p.Leu1353=)
|
|
|
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer)
|
rs1562928927
|
|
NM_000492.4(CFTR):c.405A>C (p.Thr135=)
|
|
|
NM_000492.4(CFTR):c.405A>G (p.Thr135=)
|
|
|
NM_000492.4(CFTR):c.405_406dup (p.Leu136fs)
|
rs1554379846
|
|
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.4068G>A (p.Leu1356=)
|
|
|
NM_000492.4(CFTR):c.4071_4073delinsAA (p.Arg1358fs)
|
rs397508667
|
|
NM_000492.4(CFTR):c.4071del (p.Arg1358fs)
|
rs1584848901
|
|
NM_000492.4(CFTR):c.4076C>A (p.Ser1359Tyr)
|
|
|
NM_000492.4(CFTR):c.4076C>G (p.Ser1359Cys)
|
|
|
NM_000492.4(CFTR):c.4077T>C (p.Ser1359=)
|
rs1449323479
|
|
NM_000492.4(CFTR):c.4077T>G (p.Ser1359=)
|
rs1449323479
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
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.4083C>T (p.Leu1361=)
|
|
|
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn)
|
rs777892053
|
|
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter)
|
rs397508669
|
|
NM_000492.4(CFTR):c.4088A>G (p.Lys1363Arg)
|
|
|
NM_000492.4(CFTR):c.408G>C (p.Leu136=)
|
|
|
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.4098C>T (p.Ile1366=)
|
|
|
NM_000492.4(CFTR):c.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000492.4(CFTR):c.40A>C (p.Lys14Gln)
|
|
|
NM_000492.4(CFTR):c.40A>T (p.Lys14Ter)
|
rs397508673
|
|
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
|
|
|
NM_000492.4(CFTR):c.4103T>C (p.Leu1368Pro)
|
|
|
NM_000492.4(CFTR):c.4104G>A (p.Leu1368=)
|
|
|
NM_000492.4(CFTR):c.4108G>C (p.Asp1370His)
|
|
|
NM_000492.4(CFTR):c.410T>A (p.Leu137His)
|
rs397508674
|
|
NM_000492.4(CFTR):c.410_416del (p.Leu137fs)
|
rs1584785072
|
|
NM_000492.4(CFTR):c.4110T>A (p.Asp1370Glu)
|
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
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.4116C>T (p.Pro1372=)
|
rs1793345960
|
|
NM_000492.4(CFTR):c.4118G>T (p.Ser1373Ile)
|
rs587780313
|
|
NM_000492.4(CFTR):c.411C>T (p.Leu137=)
|
|
|
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly)
|
rs115147093
|
|
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)
|
rs397508678
|
|
NM_000492.4(CFTR):c.4126T>C (p.Leu1376=)
|
rs2116221499
|
|
NM_000492.4(CFTR):c.4127_4131del (p.Leu1376fs)
|
rs1554397527
|
|
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn)
|
rs150683293
|
|
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)
|
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+12A>T
|
rs777853603
|
|
NM_000492.4(CFTR):c.4136+13T>C
|
|
|
NM_000492.4(CFTR):c.4136+14G>A
|
rs1389376517
|
|
NM_000492.4(CFTR):c.4136+14G>T
|
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.4136+20T>A
|
|
|
NM_000492.4(CFTR):c.4136+2T>G
|
rs1562928998
|
|
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.4137-12T>C
|
|
|
NM_000492.4(CFTR):c.4137-20G>T
|
|
|
NM_000492.4(CFTR):c.4137-23G>A
|
|
|
NM_000492.4(CFTR):c.4137-4C>T
|
rs766178879
|
|
NM_000492.4(CFTR):c.4137-5dup
|
rs1171674692
|
|
NM_000492.4(CFTR):c.4137-8T>C
|
|
|
NM_000492.4(CFTR):c.4139C>T (p.Thr1380Ile)
|
|
|
NM_000492.4(CFTR):c.4139del (p.Thr1380fs)
|
rs397508680
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.4140A>T (p.Thr1380=)
|
rs2116222559
|
|
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.4143C>A (p.Tyr1381Ter)
|
rs397508683
|
|
NM_000492.4(CFTR):c.4143C>G (p.Tyr1381Ter)
|
rs397508683
|
|
NM_000492.4(CFTR):c.4144C>A (p.Gln1382Lys)
|
|
|
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)
|
rs397508684
|
|
NM_000492.4(CFTR):c.4147A>G (p.Ile1383Val)
|
|
|
NM_000492.4(CFTR):c.4147A>T (p.Ile1383Leu)
|
|
|
NM_000492.4(CFTR):c.4147dup (p.Ile1383fs)
|
rs397508685
|
|
NM_000492.4(CFTR):c.4151T>C (p.Ile1384Thr)
|
rs1584849296
|
|
NM_000492.4(CFTR):c.4152T>C (p.Ile1384=)
|
|
|
NM_000492.4(CFTR):c.415C>T (p.His139Tyr)
|
|
|
NM_000492.4(CFTR):c.4161T>C (p.Thr1387=)
|
|
|
NM_000492.4(CFTR):c.4162C>G (p.Leu1388Val)
|
rs1554397584
|
|
NM_000492.4(CFTR):c.4163T>A (p.Leu1388Gln)
|
rs397508688
|
|
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro)
|
rs397508688
|
|
NM_000492.4(CFTR):c.4164A>G (p.Leu1388=)
|
|
|
NM_000492.4(CFTR):c.4168C>T (p.Gln1390Ter)
|
rs397508689
|
|
NM_000492.4(CFTR):c.416A>G (p.His139Arg)
|
rs76371115
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4173A>T (p.Ala1391=)
|
|
|
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.4188A>G (p.Thr1396=)
|
rs1322987429
|
|
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
|
|
|
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu)
|
rs397508691
|
|
NM_000492.4(CFTR):c.4191A>T (p.Val1397=)
|
rs2116222773
|
|
NM_000492.4(CFTR):c.4194T>C (p.Ile1398=)
|
rs2116222791
|
|
NM_000492.4(CFTR):c.4195C>A (p.Leu1399Ile)
|
|
|
NM_000492.4(CFTR):c.4195C>G (p.Leu1399Val)
|
rs1562929162
|
|
NM_000492.4(CFTR):c.4197C>T (p.Leu1399=)
|
rs79688066
|
|
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)
|
rs397508693
|
|
NM_000492.4(CFTR):c.4199del (p.Cys1400fs)
|
rs1554397593
|
|
NM_000492.4(CFTR):c.419C>G (p.Pro140Arg)
|
|
|
NM_000492.4(CFTR):c.419C>T (p.Pro140Leu)
|
rs397508694
|
|
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer)
|
rs397508695
|
|
NM_000492.4(CFTR):c.4201G>A (p.Glu1401Lys)
|
rs397508696
|
|
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter)
|
rs397508696
|
|
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.4218A>G (p.Ala1406=)
|
|
|
NM_000492.4(CFTR):c.4219A>G (p.Met1407Val)
|
|
|
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
|
|
|
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=)
|
rs1793360215
|
|
NM_000492.4(CFTR):c.4223T>C (p.Leu1408Pro)
|
|
|
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter)
|
rs397508699
|
|
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)
|
rs397508700
|
|
NM_000492.4(CFTR):c.4230C>A (p.Cys1410Ter)
|
|
|
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter)
|
rs397508701
|
|
NM_000492.4(CFTR):c.4233A>G (p.Gln1411=)
|
|
|
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)
|
rs397508702
|
|
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=)
|
rs541737583
|
|
NM_000492.4(CFTR):c.4238T>G (p.Phe1413Cys)
|
|
|
NM_000492.4(CFTR):c.423C>T (p.Ala141=)
|
rs1584785096
|
|
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser)
|
rs397508703
|
|
NM_000492.4(CFTR):c.4242+19A>C
|
rs1554397608
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.4242+20C>T
|
rs1229413013
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.4242+5G>A
|
rs1562929196
|
|
NM_000492.4(CFTR):c.4242+6T>C
|
rs1562929200
|
|
NM_000492.4(CFTR):c.4242+7C>T
|
rs1793361429
|
|
NM_000492.4(CFTR):c.4243-11C>T
|
|
|
NM_000492.4(CFTR):c.4243-15C>A
|
|
|
NM_000492.4(CFTR):c.4243-15C>T
|
|
|
NM_000492.4(CFTR):c.4243-16A>G
|
rs780125251
|
|
NM_000492.4(CFTR):c.4243-19C>G
|
rs2116226004
|
|
NM_000492.4(CFTR):c.4243-21_4243-18del
|
|
|
NM_000492.4(CFTR):c.4243-35del
|
rs193922527
|
|
NM_000492.4(CFTR):c.4243-3T>C
|
|
|
NM_000492.4(CFTR):c.4243-4C>G
|
|
|
NM_000492.4(CFTR):c.4243-576A>G
|
|
|
NM_000492.4(CFTR):c.4243-7T>C
|
rs2116226050
|
|
NM_000492.4(CFTR):c.4243-7del
|
rs878854021
|
|
NM_000492.4(CFTR):c.4243-8T>C
|
rs2116226043
|
|
NM_000492.4(CFTR):c.4244T>G (p.Val1415Gly)
|
rs779591474
|
|
NM_000492.4(CFTR):c.4245C>T (p.Val1415=)
|
|
|
NM_000492.4(CFTR):c.4248A>T (p.Ile1416=)
|
|
|
NM_000492.4(CFTR):c.424A>G (p.Ile142Val)
|
rs1562889369
|
|
NM_000492.4(CFTR):c.424del (p.Ile142fs)
|
rs387906363
|
|
NM_000492.4(CFTR):c.4251A>C (p.Glu1417Asp)
|
rs1793384834
|
|
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)
|
rs397508706
|
|
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)
|
rs397508707
|
|
NM_000492.4(CFTR):c.4253A>G (p.Glu1418Gly)
|
|
|
NM_000492.4(CFTR):c.4256A>T (p.Asn1419Ile)
|
rs1461912555
|
|
NM_000492.4(CFTR):c.425T>G (p.Ile142Ser)
|
|
|
NM_000492.4(CFTR):c.4261G>C (p.Val1421Leu)
|
|
|
NM_000492.4(CFTR):c.4263G>A (p.Val1421=)
|
rs1793385225
|
|
NM_000492.4(CFTR):c.4264C>G (p.Arg1422Gly)
|
|
|
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp)
|
rs373172017
|
|
NM_000492.4(CFTR):c.4265G>C (p.Arg1422Pro)
|
|
|
NM_000492.4(CFTR):c.4266G>A (p.Arg1422=)
|
|
|
NM_000492.4(CFTR):c.4266G>T (p.Arg1422=)
|
rs545385510
|
|
NM_000492.4(CFTR):c.4268A>G (p.Gln1423Arg)
|
|
|
NM_000492.4(CFTR):c.4269G>A (p.Gln1423=)
|
rs2116226188
|
|
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)
|
rs762847468
|
|
NM_000492.4(CFTR):c.427T>G (p.Phe143Val)
|
|
|
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr)
|
rs193922528
|
|
NM_000492.4(CFTR):c.4284G>A (p.Gln1428=)
|
|
|
NM_000492.4(CFTR):c.4288C>T (p.Leu1430=)
|
|
|
NM_000492.4(CFTR):c.4291C>T (p.Leu1431=)
|
rs774296351
|
|
NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del)
|
rs747078069
|
|
NM_000492.4(CFTR):c.4292T>G (p.Leu1431Arg)
|
|
|
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys)
|
rs761669740
|
|
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)
|
rs750559671
|
|
NM_000492.4(CFTR):c.4298A>G (p.Glu1433Gly)
|
|
|
NM_000492.4(CFTR):c.4299G>C (p.Glu1433Asp)
|
|
|
NM_000492.4(CFTR):c.429del (p.Phe143fs)
|
rs387906364
|
|
NM_000492.4(CFTR):c.42del (p.Lys14fs)
|
rs397508710
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.4304G>A (p.Ser1435Asn)
|
|
|
NM_000492.4(CFTR):c.4305C>G (p.Ser1435Arg)
|
|
|
NM_000492.4(CFTR):c.4312del (p.Arg1438fs)
|
|
|
NM_000492.4(CFTR):c.4314G>T (p.Arg1438=)
|
|
|
NM_000492.4(CFTR):c.4315C>T (p.Gln1439Ter)
|
|
|
NM_000492.4(CFTR):c.4319C>G (p.Ala1440Gly)
|
|
|
NM_000492.4(CFTR):c.4323C>G (p.Ile1441Met)
|
|
|
NM_000492.4(CFTR):c.4325G>C (p.Ser1442Thr)
|
|
|
NM_000492.4(CFTR):c.4325del (p.Ser1442fs)
|
|
|
NM_000492.4(CFTR):c.4326C>T (p.Ser1442=)
|
rs753963572
|
|
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser)
|
rs1336644939
|
|
NM_000492.4(CFTR):c.4328C>G (p.Pro1443Arg)
|
|
|
NM_000492.4(CFTR):c.4328C>T (p.Pro1443Leu)
|
|
|
NM_000492.4(CFTR):c.4329C>G (p.Pro1443=)
|
|
|
NM_000492.4(CFTR):c.4329C>T (p.Pro1443=)
|
|
|
NM_000492.4(CFTR):c.4329del (p.Ser1444fs)
|
rs1554397769
|
|
NM_000492.4(CFTR):c.432C>T (p.Gly144=)
|
rs1431645851
|
|
NM_000492.4(CFTR):c.4331C>T (p.Ser1444Phe)
|
|
|
NM_000492.4(CFTR):c.4332C>T (p.Ser1444=)
|
rs779359608
|
|
NM_000492.4(CFTR):c.4335C>T (p.Asp1445=)
|
|
|
NM_000492.4(CFTR):c.4336A>G (p.Arg1446Gly)
|
rs985995406
|
|
NM_000492.4(CFTR):c.4338G>A (p.Arg1446=)
|
|
|
NM_000492.4(CFTR):c.4339G>A (p.Val1447Met)
|
|
|
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer)
|
rs1554397772
|
|
NM_000492.4(CFTR):c.433C>G (p.Leu145Val)
|
|
|
NM_000492.4(CFTR):c.433del (p.Leu145fs)
|
rs1562889382
|
|
NM_000492.4(CFTR):c.4340del (p.Val1447fs)
|
rs2116226496
|
|
NM_000492.4(CFTR):c.4344G>A (p.Lys1448=)
|
|
|
NM_000492.4(CFTR):c.4345_*486delinsTTG (p.Phe1450_Ter1481del)
|
|
|
NM_000492.4(CFTR):c.4345_*487delinsTTG (p.Phe1450fs)
|
|
|
NM_000492.4(CFTR):c.4346T>C (p.Leu1449Pro)
|
|
|
NM_000492.4(CFTR):c.4347C>G (p.Leu1449=)
|
|
|
NM_000492.4(CFTR):c.4347C>T (p.Leu1449=)
|
|
|
NM_000492.4(CFTR):c.4353C>T (p.Pro1451=)
|
rs1345439008
|
|
NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)
|
|
|
NM_000492.4(CFTR):c.4357C>A (p.Arg1453=)
|
|
|
NM_000492.4(CFTR):c.4357C>G (p.Arg1453Gly)
|
rs4148725
|
|
NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)
|
|
|
NM_000492.4(CFTR):c.435TCA[1] (p.His147del)
|
|
|
NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter)
|
rs121909043
|
|
NM_000492.4(CFTR):c.4365A>G (p.Ser1455=)
|
|
|
NM_000492.4(CFTR):c.4368C>G (p.Ser1456Arg)
|
rs1793394598
|
|
NM_000492.4(CFTR):c.4370A>T (p.Lys1457Met)
|
|
|
NM_000492.4(CFTR):c.4371G>A (p.Lys1457=)
|
|
|
NM_000492.4(CFTR):c.4377G>A (p.Lys1459=)
|
rs1554397779
|
|
NM_000492.4(CFTR):c.4380T>C (p.Ser1460=)
|
|
|
NM_000492.4(CFTR):c.4384C>T (p.Pro1462Ser)
|
|
|
NM_000492.4(CFTR):c.4387_4388del (p.Gln1463fs)
|
rs2116226651
|
|
NM_000492.4(CFTR):c.4389del (p.Ile1464fs)
|
rs1584850283
|
|
NM_000492.4(CFTR):c.4391T>C (p.Ile1464Thr)
|
|
|
NM_000492.4(CFTR):c.4392del (p.Ile1464fs)
|
rs1793395260
|
|
NM_000492.4(CFTR):c.4394C>G (p.Ala1465Gly)
|
|
|
NM_000492.4(CFTR):c.4399C>T (p.Leu1467=)
|
|
|
NM_000492.4(CFTR):c.43del (p.Leu15fs)
|
rs397508715
|
|
NM_000492.4(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa)
|
rs1562929636
|
|
NM_000492.4(CFTR):c.4400del (p.Leu1467fs)
|
rs1562929633
|
|
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
|
|
|
NM_000492.4(CFTR):c.440A>C (p.His147Pro)
|
|
|
NM_000492.4(CFTR):c.4410G>A (p.Glu1470=)
|
rs1466916972
|
|
NM_000492.4(CFTR):c.4412C>T (p.Thr1471Ile)
|
|
|
NM_000492.4(CFTR):c.4415A>T (p.Glu1472Val)
|
|
|
NM_000492.4(CFTR):c.4417G>A (p.Glu1473Lys)
|
rs397508716
|
|
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)
|
rs397508716
|
|
NM_000492.4(CFTR):c.441C>T (p.His147=)
|
|
|
NM_000492.4(CFTR):c.441_442del (p.Ile148fs)
|
|
|
NM_000492.4(CFTR):c.4422G>A (p.Glu1474=)
|
|
|
NM_000492.4(CFTR):c.4423G>T (p.Val1475Leu)
|
rs369464175
|
|
NM_000492.4(CFTR):c.4424T>C (p.Val1475Ala)
|
|
|
NM_000492.4(CFTR):c.4425G>A (p.Val1475=)
|
rs776922524
|
|
NM_000492.4(CFTR):c.442del (p.Ile148fs)
|
rs121908770
|
|
NM_000492.4(CFTR):c.4430A>T (p.Asp1477Val)
|
|
|
NM_000492.4(CFTR):c.4431T>C (p.Asp1477=)
|
rs765554812
|
|
NM_000492.4(CFTR):c.4433C>A (p.Thr1478Lys)
|
|
|
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)
|
rs753173837
|
|
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro)
|
rs758818611
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
NM_000492.4(CFTR):c.443T>G (p.Ile148Ser)
|
|
|
NM_000492.4(CFTR):c.4443G>C (p.Ter1481Tyr)
|
|
|
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)
|
rs397508718
|
|
NM_000492.4(CFTR):c.445G>T (p.Gly149Ter)
|
rs397508718
|
|
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.44T>C (p.Leu15Pro)
|
rs1562876459
|
|
NM_000492.4(CFTR):c.450G>A (p.Met150Ile)
|
|
|
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter)
|
rs397508720
|
|
NM_000492.4(CFTR):c.453G>A (p.Gln151=)
|
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.455T>G (p.Met152Arg)
|
rs397508722
|
|
NM_000492.4(CFTR):c.456G>A (p.Met152Ile)
|
rs1403470018
|
|
NM_000492.4(CFTR):c.459_476del (p.Ala155_Ile160del)
|
rs387906371
|
|
NM_000492.4(CFTR):c.45T>G (p.Leu15=)
|
rs1212474322
|
|
NM_000492.4(CFTR):c.463G>C (p.Ala155Pro)
|
rs397508723
|
|
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly)
|
rs1554379882
|
|
NM_000492.4(CFTR):c.466A>G (p.Met156Val)
|
|
|
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)
|
rs1554379887
|
|
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.480T>C (p.Ile160=)
|
|
|
NM_000492.4(CFTR):c.480_483del (p.Tyr161fs)
|
|
|
NM_000492.4(CFTR):c.481T>A (p.Tyr161Asn)
|
rs397508729
|
|
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)
|
rs397508729
|
|
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys)
|
rs397508730
|
|
NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs)
|
rs1584785196
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.487A>G (p.Lys163Glu)
|
rs1798858347
|
|
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.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.489+10C>G
|
rs1447914513
|
|
NM_000492.4(CFTR):c.489+11C>T
|
|
|
NM_000492.4(CFTR):c.489+1G>A
|
rs78756941
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+2T>G
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+43_580-354del
|
|
|
NM_000492.4(CFTR):c.489+87_489+88dup
|
rs1554379931
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
NM_000492.4(CFTR):c.489G>A (p.Lys163=)
|
rs397508733
|
|
NM_000492.4(CFTR):c.490-13A>G
|
|
|
NM_000492.4(CFTR):c.490-14C>A
|
|
|
NM_000492.4(CFTR):c.490-15C>T
|
rs2157735
|
|
NM_000492.4(CFTR):c.490-17T>G
|
rs2116674831
|
|
NM_000492.4(CFTR):c.490-1G>C
|
|
|
NM_000492.4(CFTR):c.490-1G>T
|
rs397508734
|
|
NM_000492.4(CFTR):c.490-26del
|
rs781120531
|
|
NM_000492.4(CFTR):c.490-2A>G
|
rs397508735
|
|
NM_000492.4(CFTR):c.490-4T>G
|
|
|
NM_000492.4(CFTR):c.490-8T>C
|
|
|
NM_000492.4(CFTR):c.490-8T>G
|
|
|
NM_000492.4(CFTR):c.490-9T>A
|
rs2116674841
|
|
NM_000492.4(CFTR):c.491C>T (p.Thr164Ile)
|
|
|
NM_000492.4(CFTR):c.492T>A (p.Thr164=)
|
|
|
NM_000492.4(CFTR):c.492T>C (p.Thr164=)
|
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer)
|
rs397508737
|
|
NM_000492.4(CFTR):c.496A>G (p.Lys166Glu)
|
rs397508738
|
|
NM_000492.4(CFTR):c.498G>A (p.Lys166=)
|
|
|
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn)
|
rs2116674891
|
|
NM_000492.4(CFTR):c.498del (p.Lys166fs)
|
|
|
NM_000492.4(CFTR):c.499C>T (p.Leu167=)
|
|
|
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
|
|
|
NM_000492.4(CFTR):c.49_50dup (p.Trp19fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.4del (p.Gln2fs)
|
rs1562876396
|
|
NM_000492.4(CFTR):c.500T>G (p.Leu167Arg)
|
rs397508741
|
|
NM_000492.4(CFTR):c.502_503del (p.Ser168fs)
|
|
|
NM_000492.4(CFTR):c.503C>G (p.Ser168Ter)
|
rs869249241
|
|
NM_000492.4(CFTR):c.503C>T (p.Ser168Leu)
|
rs869249241
|
|
NM_000492.4(CFTR):c.504A>G (p.Ser168=)
|
|
|
NM_000492.4(CFTR):c.505A>G (p.Ser169Gly)
|
rs1554380309
|
|
NM_000492.4(CFTR):c.506G>A (p.Ser169Asn)
|
|
|
NM_000492.4(CFTR):c.506dup (p.Ser169fs)
|
rs1554380311
|
|
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.50del (p.Phe17fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.516A>G (p.Leu172=)
|
|
|
NM_000492.4(CFTR):c.518A>T (p.Asp173Val)
|
|
|
NM_000492.4(CFTR):c.51del (p.Phe17fs)
|
rs1317756653
|
|
NM_000492.4(CFTR):c.520_530del (p.Lys174fs)
|
|
|
NM_000492.4(CFTR):c.521A>G (p.Lys174Arg)
|
|
|
NM_000492.4(CFTR):c.522_526del (p.Ile175fs)
|
rs397508743
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.525A>T (p.Ile175=)
|
rs2116674963
|
|
NM_000492.4(CFTR):c.527G>T (p.Ser176Ile)
|
|
|
NM_000492.4(CFTR):c.528T>C (p.Ser176=)
|
rs1798911676
|
|
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
|
|
|
NM_000492.4(CFTR):c.53+1005T>G
|
|
|
NM_000492.4(CFTR):c.53+10T>C
|
rs2116604777
|
|
NM_000492.4(CFTR):c.53+11G>A
|
|
|
NM_000492.4(CFTR):c.53+12G>A
|
|
|
NM_000492.4(CFTR):c.53+13C>A
|
|
|
NM_000492.4(CFTR):c.53+14C>T
|
|
|
NM_000492.4(CFTR):c.53+16A>G
|
|
|
NM_000492.4(CFTR):c.53+17C>A
|
rs1797979411
|
|
NM_000492.4(CFTR):c.53+18C>A
|
|
|
NM_000492.4(CFTR):c.53+19G>T
|
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.53+2T>C
|
|
|
NM_000492.4(CFTR):c.53+3348G>A
|
|
|
NM_000492.4(CFTR):c.53+3G>C
|
rs1797978937
|
|
NM_000492.4(CFTR):c.53+8G>A
|
rs1584764672
|
|
NM_000492.4(CFTR):c.53+9G>T
|
rs745414764
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.531dup (p.Gly178fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)
|
rs397508748
|
|
NM_000492.4(CFTR):c.534_538del (p.Gln179fs)
|
|
|
NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)
|
|
|
NM_000492.4(CFTR):c.539T>C (p.Leu180Pro)
|
|
|
NM_000492.4(CFTR):c.53G>T (p.Ser18Ile)
|
|
|
NM_000492.4(CFTR):c.54-1161_164+1603del
|
|
|
NM_000492.4(CFTR):c.54-11C>T
|
|
|
NM_000492.4(CFTR):c.54-11_54-8del
|
rs750763328
|
|
NM_000492.4(CFTR):c.54-13C>G
|
rs397508749
|
|
NM_000492.4(CFTR):c.54-13del
|
|
|
NM_000492.4(CFTR):c.54-15_54-13del
|
|
|
NM_000492.4(CFTR):c.54-1G>T
|
|
|
NM_000492.4(CFTR):c.54-4235_164+377dup
|
|
|
NM_000492.4(CFTR):c.54-4T>G
|
rs2116635058
|
|
NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT
|
|
|
NM_000492.4(CFTR):c.54-8T>C
|
rs778197563
|
|
NM_000492.4(CFTR):c.54-9347T>A
|
|
|
NM_000492.4(CFTR):c.54-9T>C
|
rs1584774278
|
|
NM_000492.4(CFTR):c.540T>G (p.Leu180=)
|
|
|
NM_000492.4(CFTR):c.543_546del (p.Leu183fs)
|
rs397508750
|
|
NM_000492.4(CFTR):c.544dup (p.Ser182fs)
|
rs1584786454
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
NM_000492.4(CFTR):c.548T>A (p.Leu183His)
|
|
|
NM_000492.4(CFTR):c.550del (p.Leu184fs)
|
rs397508752
|
|
NM_000492.4(CFTR):c.551T>G (p.Leu184Arg)
|
rs1798913255
|
|
NM_000492.4(CFTR):c.551_555del (p.Leu184fs)
|
|
|
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr)
|
rs1798913314
|
|
NM_000492.4(CFTR):c.555C>T (p.Ser185=)
|
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000492.4(CFTR):c.558del (p.Asn186fs)
|
|
|
NM_000492.4(CFTR):c.560A>G (p.Asn187Ser)
|
|
|
NM_000492.4(CFTR):c.560del (p.Asn187fs)
|
rs1562890223
|
|
NM_000492.4(CFTR):c.561C>T (p.Asn187=)
|
rs397508754
|
|
NM_000492.4(CFTR):c.562C>A (p.Leu188Met)
|
|
|
NM_000492.4(CFTR):c.562C>T (p.Leu188=)
|
|
|
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.567C>T (p.Asn189=)
|
rs397508755
|
|
NM_000492.4(CFTR):c.56G>A (p.Trp19Ter)
|
rs1057516232
|
|
NM_000492.4(CFTR):c.574G>A (p.Asp192Asn)
|
rs397508756
|
|
NM_000492.4(CFTR):c.574G>C (p.Asp192His)
|
|
|
NM_000492.4(CFTR):c.574G>T (p.Asp192Tyr)
|
|
|
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)
|
rs397508758
|
|
NM_000492.4(CFTR):c.575A>T (p.Asp192Val)
|
rs397508758
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
NM_000492.4(CFTR):c.578_579+5del
|
rs397508760
|
|
NM_000492.4(CFTR):c.579+10T>C
|
|
|
NM_000492.4(CFTR):c.579+11A>G
|
|
|
NM_000492.4(CFTR):c.579+16T>C
|
|
|
NM_000492.4(CFTR):c.579+1_579+2insACAT
|
rs2116675185
|
|
NM_000492.4(CFTR):c.579+20A>G
|
|
|
NM_000492.4(CFTR):c.579+3A>T
|
rs397508761
|
|
NM_000492.4(CFTR):c.579+4T>C
|
|
|
NM_000492.4(CFTR):c.579+8C>A
|
|
|
NM_000492.4(CFTR):c.579+8C>G
|
|
|
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)
|
rs397508762
|
|
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys)
|
rs397508762
|
|
NM_000492.4(CFTR):c.580-14C>A
|
|
|
NM_000492.4(CFTR):c.580-15G>T
|
|
|
NM_000492.4(CFTR):c.580-18T>C
|
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.580-2A>C
|
rs193922730
|
|
NM_000492.4(CFTR):c.580-3C>T
|
rs2116676312
|
|
NM_000492.4(CFTR):c.580-9A>G
|
rs1584786873
|
|
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)
|
rs376008630
|
|
NM_000492.4(CFTR):c.580G>C (p.Gly194Arg)
|
|
|
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter)
|
rs376008630
|
|
NM_000492.4(CFTR):c.582A>G (p.Gly194=)
|
rs561270322
|
|
NM_000492.4(CFTR):c.582A>T (p.Gly194=)
|
|
|
NM_000492.4(CFTR):c.585T>C (p.Leu195=)
|
|
|
NM_000492.4(CFTR):c.586G>A (p.Ala196Thr)
|
|
|
NM_000492.4(CFTR):c.586G>C (p.Ala196Pro)
|
|
|
NM_000492.4(CFTR):c.586dup (p.Ala196fs)
|
rs1584786892
|
|
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.594A>C (p.Ala198=)
|
rs1481956057
|
|
NM_000492.4(CFTR):c.596A>G (p.His199Arg)
|
rs397508764
|
|
NM_000492.4(CFTR):c.597T>G (p.His199Gln)
|
rs397508765
|
|
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile)
|
rs397508766
|
|
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.600C>T (p.Phe200=)
|
rs753492211
|
|
NM_000492.4(CFTR):c.601del (p.Val201fs)
|
rs397508767
|
|
NM_000492.4(CFTR):c.603G>A (p.Val201=)
|
|
|
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter)
|
rs397508768
|
|
NM_000492.4(CFTR):c.609C>A (p.Ile203=)
|
|
|
NM_000492.4(CFTR):c.609C>G (p.Ile203Met)
|
rs1800081
|
|
NM_000492.4(CFTR):c.60C>A (p.Thr20=)
|
rs534609552
|
|
NM_000492.4(CFTR):c.60C>T (p.Thr20=)
|
|
|
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser)
|
rs748026786
|
|
NM_000492.4(CFTR):c.613C>A (p.Pro205Thr)
|
rs121908803
|
|
NM_000492.4(CFTR):c.613_870-1547del
|
|
|
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg)
|
rs397508769
|
|
NM_000492.4(CFTR):c.617T>A (p.Leu206Ter)
|
|
|
NM_000492.4(CFTR):c.618G>A (p.Leu206=)
|
|
|
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe)
|
rs397508770
|
|
NM_000492.4(CFTR):c.619C>A (p.Gln207Lys)
|
|
|
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)
|
rs397508771
|
|
NM_000492.4(CFTR):c.621A>G (p.Gln207=)
|
|
|
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.630C>A (p.Leu210=)
|
|
|
NM_000492.4(CFTR):c.630C>T (p.Leu210=)
|
rs1584786975
|
|
NM_000492.4(CFTR):c.633C>T (p.Leu211=)
|
rs2116676523
|
|
NM_000492.4(CFTR):c.635T>C (p.Met212Thr)
|
|
|
NM_000492.4(CFTR):c.639G>A (p.Gly213=)
|
|
|
NM_000492.4(CFTR):c.63A>G (p.Arg21=)
|
rs1356545960
|
|
NM_000492.4(CFTR):c.640C>G (p.Leu214Val)
|
rs188457893
|
|
NM_000492.4(CFTR):c.642_643insT (p.Ile215fs)
|
rs397508774
|
|
NM_000492.4(CFTR):c.645C>T (p.Ile215=)
|
|
|
NM_000492.4(CFTR):c.646T>C (p.Trp216Arg)
|
rs1562890551
|
|
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)
|
rs397508775
|
|
NM_000492.4(CFTR):c.647G>C (p.Trp216Ser)
|
|
|
NM_000492.4(CFTR):c.651G>A (p.Glu217=)
|
rs1422913967
|
|
NM_000492.4(CFTR):c.652T>C (p.Leu218=)
|
rs1798932836
|
|
NM_000492.4(CFTR):c.655T>C (p.Leu219=)
|
|
|
NM_000492.4(CFTR):c.657A>G (p.Leu219=)
|
rs1798933085
|
|
NM_000492.4(CFTR):c.657dup (p.Gln220fs)
|
rs1554380465
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
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.662del (p.Ala221fs)
|
rs2116676645
|
|
NM_000492.4(CFTR):c.663G>T (p.Ala221=)
|
|
|
NM_000492.4(CFTR):c.667G>T (p.Ala223Ser)
|
|
|
NM_000492.4(CFTR):c.668C>T (p.Ala223Val)
|
|
|
NM_000492.4(CFTR):c.669C>G (p.Ala223=)
|
rs2116676667
|
|
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.671del (p.Phe224fs)
|
rs769693190
|
|
NM_000492.4(CFTR):c.672C>T (p.Phe224=)
|
|
|
NM_000492.4(CFTR):c.673T>C (p.Cys225Arg)
|
rs397508780
|
|
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
|
rs397508781
|
|
NM_000492.4(CFTR):c.675T>C (p.Cys225=)
|
|
|
NM_000492.4(CFTR):c.676G>A (p.Gly226Arg)
|
|
|
NM_000492.4(CFTR):c.676G>C (p.Gly226Arg)
|
rs1562890588
|
|
NM_000492.4(CFTR):c.678A>T (p.Gly226=)
|
rs1584787037
|
|
NM_000492.4(CFTR):c.67A>G (p.Ile23Val)
|
rs1798377413
|
|
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg)
|
rs397508782
|
|
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.684T>C (p.Gly228=)
|
|
|
NM_000492.4(CFTR):c.688C>T (p.Leu230=)
|
rs201410793
|
|
NM_000492.4(CFTR):c.68T>C (p.Ile23Thr)
|
|
|
NM_000492.4(CFTR):c.692T>G (p.Ile231Arg)
|
|
|
NM_000492.4(CFTR):c.696C>A (p.Val232=)
|
rs2116676736
|
|
NM_000492.4(CFTR):c.696C>T (p.Val232=)
|
|
|
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.705T>C (p.Leu235=)
|
|
|
NM_000492.4(CFTR):c.705T>G (p.Leu235=)
|
rs762380161
|
|
NM_000492.4(CFTR):c.707T>A (p.Phe236Tyr)
|
|
|
NM_000492.4(CFTR):c.708del (p.Gln237fs)
|
rs1299250440
|
|
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)
|
rs397508784
|
|
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.714del (p.Gly239_Leu240insTer)
|
rs397508787
|
|
NM_000492.4(CFTR):c.716G>A (p.Gly239Glu)
|
|
|
NM_000492.4(CFTR):c.717G>A (p.Gly239=)
|
|
|
NM_000492.4(CFTR):c.717G>T (p.Gly239=)
|
rs764661797
|
|
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer)
|
rs1554380497
|
|
NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
|
|
|
NM_000492.4(CFTR):c.718C>T (p.Leu240=)
|
|
|
NM_000492.4(CFTR):c.719T>G (p.Leu240Arg)
|
|
|
NM_000492.4(CFTR):c.71T>A (p.Leu24Ter)
|
|
|
NM_000492.4(CFTR):c.71del (p.Ile23_Leu24insTer)
|
|
|
NM_000492.4(CFTR):c.721G>T (p.Gly241Trp)
|
|
|
NM_000492.4(CFTR):c.722G>A (p.Gly241Glu)
|
|
|
NM_000492.4(CFTR):c.723G>A (p.Gly241=)
|
|
|
NM_000492.4(CFTR):c.723_743+1del
|
rs121908804
|
|
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.72G>A (p.Leu24=)
|
|
|
NM_000492.4(CFTR):c.731T>A (p.Met244Lys)
|
rs397508790
|
|
NM_000492.4(CFTR):c.731T>C (p.Met244Thr)
|
|
|
NM_000492.4(CFTR):c.736A>C (p.Lys246Gln)
|
|
|
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs)
|
rs1057517342
|
|
NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter)
|
rs1800082
|
|
NM_000492.4(CFTR):c.741C>G (p.Tyr247Ter)
|
rs1800082
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.742A>T (p.Arg248Ter)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+11A>G
|
|
|
NM_000492.4(CFTR):c.743+11A>T
|
|
|
NM_000492.4(CFTR):c.743+16C>G
|
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000492.4(CFTR):c.743+2T>C
|
rs1584787119
|
|
NM_000492.4(CFTR):c.743+4G>T
|
rs193922530
|
|
NM_000492.4(CFTR):c.743+554A>G
|
|
|
NM_000492.4(CFTR):c.743+8C>T
|
|
|
NM_000492.4(CFTR):c.743+9C>G
|
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000492.4(CFTR):c.744-14_744-3del
|
rs387906367
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.744-33=
|
|
|
NM_000492.4(CFTR):c.744-33GATT[5]
|
rs1805171
|
|
NM_000492.4(CFTR):c.744-33GATT[6]
|
rs1805171
|
|
NM_000492.4(CFTR):c.744-33GATT[8]
|
rs1805171
|
|
NM_000492.4(CFTR):c.744-8A>C
|
rs2116678470
|
|
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
|
|
|
NM_000492.4(CFTR):c.744A>G (p.Arg248=)
|
|
|
NM_000492.4(CFTR):c.745G>T (p.Asp249Tyr)
|
|
|
NM_000492.4(CFTR):c.748C>T (p.Gln250Ter)
|
|
|
NM_000492.4(CFTR):c.751A>T (p.Arg251Ter)
|
rs1798959540
|
|
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.755delinsGCTGGGAAGAT (p.Ala252fs)
|
rs1584787657
|
|
NM_000492.4(CFTR):c.756T>C (p.Ala252=)
|
|
|
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg)
|
rs1343896905
|
|
NM_000492.4(CFTR):c.761del (p.Lys254fs)
|
rs2116678523
|
|
NM_000492.4(CFTR):c.764del (p.Ile255fs)
|
|
|
NM_000492.4(CFTR):c.765C>G (p.Ile255Met)
|
|
|
NM_000492.4(CFTR):c.765C>T (p.Ile255=)
|
rs1202176665
|
|
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly)
|
rs773790621
|
|
NM_000492.4(CFTR):c.768T>C (p.Ser256=)
|
rs2116678553
|
|
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
|
|
|
NM_000492.4(CFTR):c.770A>G (p.Glu257Gly)
|
|
|
NM_000492.4(CFTR):c.772del (p.Arg258fs)
|
|
|
NM_000492.4(CFTR):c.773G>A (p.Arg258Lys)
|
rs377514639
|
|
NM_000492.4(CFTR):c.773del (p.Arg258fs)
|
rs397508794
|
|
NM_000492.4(CFTR):c.774A>G (p.Arg258=)
|
rs1798960814
|
|
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe)
|
rs762640483
|
|
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
|
|
|
NM_000492.4(CFTR):c.778G>A (p.Val260Met)
|
rs1390016549
|
|
NM_000492.4(CFTR):c.780G>A (p.Val260=)
|
|
|
NM_000492.4(CFTR):c.780G>C (p.Val260=)
|
|
|
NM_000492.4(CFTR):c.782T>C (p.Ile261Thr)
|
|
|
NM_000492.4(CFTR):c.789A>G (p.Ser263=)
|
|
|
NM_000492.4(CFTR):c.789A>T (p.Ser263=)
|
rs1484039409
|
|
NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
|
|
|
NM_000492.4(CFTR):c.798T>A (p.Ile266=)
|
rs2116678632
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)
|
rs397508796
|
|
NM_000492.4(CFTR):c.803del (p.Asn268fs)
|
rs121908772
|
|
NM_000492.4(CFTR):c.805_806del (p.Ile269fs)
|
rs121908773
|
|
NM_000492.4(CFTR):c.807C>A (p.Ile269=)
|
|
|
NM_000492.4(CFTR):c.807C>T (p.Ile269=)
|
|
|
NM_000492.4(CFTR):c.808C>T (p.Gln270Ter)
|
rs1584787716
|
|
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)
|
rs397508797
|
|
NM_000492.4(CFTR):c.80del (p.Gly27fs)
|
rs397508798
|
|
NM_000492.4(CFTR):c.810del (p.Gln270fs)
|
|
|
NM_000492.4(CFTR):c.811del (p.Ser271fs)
|
rs1554380789
|
|
NM_000492.4(CFTR):c.813T>G (p.Ser271=)
|
rs1060504846
|
|
NM_000492.4(CFTR):c.817A>T (p.Lys273Ter)
|
rs1296578005
|
|
NM_000492.4(CFTR):c.818A>C (p.Lys273Thr)
|
|
|
NM_000492.4(CFTR):c.819G>A (p.Lys273=)
|
|
|
NM_000492.4(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn)
|
rs1554380796
|
|
NM_000492.4(CFTR):c.822A>G (p.Ala274=)
|
rs2116678695
|
|
NM_000492.4(CFTR):c.825C>T (p.Tyr275=)
|
|
|
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
|
rs397508799
|
|
NM_000492.4(CFTR):c.828C>T (p.Cys276=)
|
|
|
NM_000492.4(CFTR):c.829T>A (p.Trp277Arg)
|
rs397508800
|
|
NM_000492.4(CFTR):c.830G>A (p.Trp277Ter)
|
rs672601317
|
|
NM_000492.4(CFTR):c.830G>C (p.Trp277Ser)
|
|
|
NM_000492.4(CFTR):c.831G>A (p.Trp277Ter)
|
rs2116678722
|
|
NM_000492.4(CFTR):c.833AAG[1] (p.Glu279del)
|
rs397508801
|
|
NM_000492.4(CFTR):c.835G>T (p.Glu279Ter)
|
rs1199914684
|
|
NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)
|
|
|
NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)
|
|
|
NM_000492.4(CFTR):c.844G>T (p.Glu282Ter)
|
|
|
NM_000492.4(CFTR):c.846A>G (p.Glu282=)
|
|
|
NM_000492.4(CFTR):c.84C>T (p.Tyr28=)
|
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
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.860dup (p.Asn287fs)
|
rs387906380
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter)
|
rs1584787782
|
|
NM_000492.4(CFTR):c.865A>G (p.Arg289Gly)
|
|
|
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter)
|
rs1057516619
|
|
NM_000492.4(CFTR):c.866_870del (p.Arg289fs)
|
rs1562891084
|
|
NM_000492.4(CFTR):c.867A>G (p.Arg289=)
|
rs1798963965
|
|
NM_000492.4(CFTR):c.868C>G (p.Gln290Glu)
|
|
|
NM_000492.4(CFTR):c.869+11C>A
|
|
|
NM_000492.4(CFTR):c.869+1G>C
|
rs1330431481
|
|
NM_000492.4(CFTR):c.869+1G>T
|
rs1330431481
|
|
NM_000492.4(CFTR):c.869+3A>T
|
rs1554380828
|
|
NM_000492.4(CFTR):c.869+5G>C
|
|
|
NM_000492.4(CFTR):c.869+7T>A
|
|
|
NM_000492.4(CFTR):c.869+7T>C
|
rs2116678864
|
|
NM_000492.4(CFTR):c.869+8G>A
|
rs773933167
|
|
NM_000492.4(CFTR):c.869+8G>C
|
rs773933167
|
|
NM_000492.4(CFTR):c.869+9T>C
|
rs1798964448
|
|
NM_000492.4(CFTR):c.869A>T (p.Gln290Leu)
|
|
|
NM_000492.4(CFTR):c.870-1110T>C
|
|
|
NM_000492.4(CFTR):c.870-1111A>C
|
|
|
NM_000492.4(CFTR):c.870-1113G>C
|
rs1799002964
|
|
NM_000492.4(CFTR):c.870-1113_870-1110del
|
rs397508809
|
|
NM_000492.4(CFTR):c.870-12T>A
|
|
|
NM_000492.4(CFTR):c.870-12T>G
|
|
|
NM_000492.4(CFTR):c.870-13T>C
|
|
|
NM_000492.4(CFTR):c.870-178T>A
|
|
|
NM_000492.4(CFTR):c.870-1G>C
|
rs1351058559
|
|
NM_000492.4(CFTR):c.870-3T>G
|
rs397508810
|
|
NM_000492.4(CFTR):c.870-4A>G
|
rs755173693
|
|
NM_000492.4(CFTR):c.870-5del
|
rs759762840
|
|
NM_000492.4(CFTR):c.870-5dup
|
rs759762840
|
|
NM_000492.4(CFTR):c.870-682_870-350del
|
|
|
NM_000492.4(CFTR):c.870-6T>C
|
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
NM_000492.4(CFTR):c.870-8T>C
|
|
|
NM_000492.4(CFTR):c.870-9T>C
|
rs2116683428
|
|
NM_000492.4(CFTR):c.874G>A (p.Glu292Lys)
|
rs397508811
|
|
NM_000492.4(CFTR):c.874G>T (p.Glu292Ter)
|
rs397508811
|
|
NM_000492.4(CFTR):c.874_875del (p.Glu292fs)
|
rs1799022949
|
|
NM_000492.4(CFTR):c.875A>G (p.Glu292Gly)
|
rs1799023050
|
|
NM_000492.4(CFTR):c.876A>G (p.Glu292=)
|
rs2116683514
|
|
NM_000492.4(CFTR):c.877C>A (p.Leu293Met)
|
rs397508812
|
|
NM_000492.4(CFTR):c.878T>G (p.Leu293Arg)
|
|
|
NM_000492.4(CFTR):c.881_882del (p.Lys294fs)
|
rs397508813
|
|
NM_000492.4(CFTR):c.882A>G (p.Lys294=)
|
rs2116683549
|
|
NM_000492.4(CFTR):c.885G>T (p.Leu295=)
|
|
|
NM_000492.4(CFTR):c.888_889dup (p.Arg297fs)
|
rs1057516387
|
|
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)
|
rs397508815
|
|
NM_000492.4(CFTR):c.891G>A (p.Arg297=)
|
|
|
NM_000492.4(CFTR):c.892A>T (p.Lys298Ter)
|
rs1584789180
|
|
NM_000492.4(CFTR):c.894G>A (p.Lys298=)
|
|
|
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.89dup (p.Arg31fs)
|
rs2116635157
|
|
NM_000492.4(CFTR):c.900C>T (p.Ala300=)
|
rs146652541
|
|
NM_000492.4(CFTR):c.901T>C (p.Tyr301His)
|
|
|
NM_000492.4(CFTR):c.902dup (p.Tyr301Ter)
|
|
|
NM_000492.4(CFTR):c.905T>A (p.Val302Glu)
|
|
|
NM_000492.4(CFTR):c.905T>C (p.Val302Ala)
|
|
|
NM_000492.4(CFTR):c.906G>C (p.Val302=)
|
rs2116683646
|
|
NM_000492.4(CFTR):c.90G>A (p.Gln30=)
|
|
|
NM_000492.4(CFTR):c.911A>C (p.Tyr304Ser)
|
|
|
NM_000492.4(CFTR):c.912C>G (p.Tyr304Ter)
|
rs397508816
|
|
NM_000492.4(CFTR):c.912C>T (p.Tyr304=)
|
|
|
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys)
|
rs1562892143
|
|
NM_000492.4(CFTR):c.915C>G (p.Phe305Leu)
|
|
|
NM_000492.4(CFTR):c.915_916del (p.Phe305fs)
|
|
|
NM_000492.4(CFTR):c.920G>A (p.Ser307Asn)
|
rs397508817
|
|
NM_000492.4(CFTR):c.920G>T (p.Ser307Ile)
|
|
|
NM_000492.4(CFTR):c.921C>T (p.Ser307=)
|
|
|
NM_000492.4(CFTR):c.922_926del (p.Ser308fs)
|
rs2116683702
|
|
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.927C>A (p.Ala309=)
|
rs1800084
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
|
NM_000492.4(CFTR):c.930C>T (p.Phe310=)
|
rs1230103075
|
|
NM_000492.4(CFTR):c.930del (p.Phe311fs)
|
rs1584789226
|
|
NM_000492.4(CFTR):c.931T>C (p.Phe311Leu)
|
rs2116683801
|
|
NM_000492.4(CFTR):c.932T>C (p.Phe311Ser)
|
|
|
NM_000492.4(CFTR):c.932T>G (p.Phe311Cys)
|
rs1584789230
|
|
NM_000492.4(CFTR):c.933C>A (p.Phe311Leu)
|
|
|
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)
|
rs121909016
|
|
NM_000492.4(CFTR):c.93C>T (p.Arg31=)
|
|
|
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.941G>T (p.Gly314Val)
|
rs75763344
|
|
NM_000492.4(CFTR):c.944T>G (p.Phe315Cys)
|
|
|
NM_000492.4(CFTR):c.947T>C (p.Phe316Ser)
|
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000492.4(CFTR):c.948dup (p.Val317fs)
|
|
|
NM_000492.4(CFTR):c.949G>A (p.Val317Met)
|
|
|
NM_000492.4(CFTR):c.950T>A (p.Val317Glu)
|
rs1204521684
|
|
NM_000492.4(CFTR):c.950T>G (p.Val317Gly)
|
|
|
NM_000492.4(CFTR):c.954G>A (p.Val318=)
|
rs766189605
|
|
NM_000492.4(CFTR):c.959T>A (p.Leu320Ter)
|
rs397508820
|
|
NM_000492.4(CFTR):c.959del (p.Leu320fs)
|
rs1584789267
|
|
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe)
|
rs56093012
|
|
NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
|
NM_000492.4(CFTR):c.960dup (p.Ser321fs)
|
|
|
NM_000492.4(CFTR):c.962C>G (p.Ser321Cys)
|
|
|
NM_000492.4(CFTR):c.962del (p.Ser321fs)
|
|
|
NM_000492.4(CFTR):c.966G>C (p.Val322=)
|
rs2116683990
|
|
NM_000492.4(CFTR):c.969T>A (p.Leu323=)
|
|
|
NM_000492.4(CFTR):c.96G>A (p.Leu32=)
|
|
|
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu)
|
rs397508822
|
|
NM_000492.4(CFTR):c.972del (p.Tyr325fs)
|
|
|
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.978A>T (p.Ala326=)
|
|
|
NM_000492.4(CFTR):c.979C>G (p.Leu327Val)
|
|
|
NM_000492.4(CFTR):c.97G>T (p.Glu33Ter)
|
|
|
NM_000492.4(CFTR):c.980del (p.Leu327fs)
|
rs397508823
|
|
NM_000492.4(CFTR):c.981A>T (p.Leu327=)
|
|
|
NM_000492.4(CFTR):c.987del (p.Gly330fs)
|
rs397508824
|
|
NM_000492.4(CFTR):c.991A>T (p.Ile331Phe)
|
|
|
NM_000492.4(CFTR):c.993C>T (p.Ile331=)
|
rs2116684106
|
|
NM_000492.4(CFTR):c.996C>A (p.Ile332=)
|
|
|
NM_000492.4(CFTR):c.996C>T (p.Ile332=)
|
|
|
NM_000492.4(CFTR):c.9del (p.Arg3fs)
|
|
|
NM_000492.4(CFTR):c.[1209+1988_1392+2067inv;1392+2072_1392+2074del]
|
|
|
NM_000492.4(CFTR):c.[1210-34TG[12];1210-9_1210-6del]
|
|
|
NM_000492.4(CFTR):c.[1523T>G;3752G>A]
|
|
|
NM_000492.4(CFTR):c.[3469-189_3717+3822del;3469-331_3469-295del]
|
|
|
NM_000492.4(CFTR):c.[3846G>A;3848G>T]
|
|
|
NM_000492.4(CFTR):c.[4C>T;7A>T]
|
|
|
NM_000492.4:c.(1209+1_1210-1)_(1392+1_1393-1)del
|
|
|
NM_000492.4:c.(1392+1_1393-1)_(1584+1_1585-1)del
|
|
|
NM_000492.4:c.(1766+1_1767-1)_(2619+1_2620-1)del
|
|
|
NM_000492.4:c.(2619+1_2620-1)_(3367+1_3368-1)del
|
|
|
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)del
|
|
|
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)dup
|
|
|
NM_000492.4:c.(273+1_274-1)_(1392+1_1393-1)dup
|
|
|
NM_000492.4:c.(273+1_274-1)_(1584+1_1585-1)del
|
|
|
NM_000492.4:c.(273+1_274-1)_(1679+1_1680-1)del
|
|
|
NM_000492.4:c.(2908+1_2909-1)_(3139+1_3140-1)dup
|
|
|
NM_000492.4:c.(2908+1_2909-1)_(4242+1_4243-1)del
|
|
|
NM_000492.4:c.(2988+1_2989-1)_(3367+1_3368-1)del
|
|
|
NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del
|
|
|
NM_000492.4:c.(3139+1_3140-1)_(3367+1_3368-1)del
|
|
|
NM_000492.4:c.(3428+1_3469-1)_(3717+1_3718-1)dup
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3873+1_3874-1)del
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.4:c.(3873+1_3874-1)_(3963+1_3964-1)del
|
|
|
NM_000492.4:c.(3963+1_3964-1)_(*1_?)del
|
|
|
NM_000492.4:c.(4136+1_4137-1)_(4242+1_4243-1)del
|
|
|
NM_000492.4:c.(53+1_54-1)_(1209+1_1210+1)del
|
|
|
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)del
|
|
|
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)delins186
|
|
|
NM_000492.4:c.(743+1_744-1)_(1584+1_1585-1)dup
|
|
|
NM_000492.4:c.(?_-1)_(*1_?)del
|
|
|
NM_000492.4:c.53+9713_1392+2669del
|
|
|
NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe)
|
rs1675655979
|
|
NM_001136219.3(FCGR2A):c.780+1G>A
|
rs409763
|
|
NM_001282426.2(PIK3CG):c.2496T>G (p.Phe832Leu)
|
|
|
NP_000483.3(CFTR):p.Tyr1092Ter
|
|
|
NP_000483.3:p.Ser549Arg
|
|
|
Single allele
|
|
|