NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
NM_000492.4(CFTR):c.1680-870T>A
|
rs213965
|
0.55332
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
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_000492.4(CFTR):c.743+40A>G
|
rs1800502
|
0.03675
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_000492.4(CFTR):c.*1043A>C
|
rs10234329
|
0.01452
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)
|
rs1800094
|
0.00491
|
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.1210-13del
|
rs750294275
|
0.00222
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
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.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.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.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.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
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_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
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.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.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.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
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.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.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)
|
rs397508395
|
0.00013
|
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe)
|
rs1330281974
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)
|
rs142432539
|
0.00011
|
NM_000492.4(CFTR):c.2620-97C>T
|
rs146376436
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000492.4(CFTR):c.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_000492.4(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.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.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.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.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met)
|
rs576710089
|
0.00008
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000492.4(CFTR):c.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.1934T>A (p.Met645Lys)
|
rs377731410
|
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.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.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.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.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.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.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.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.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.1040G>A (p.Arg347His)
|
rs77932196
|
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.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.1841A>G (p.Asp614Gly)
|
rs201124247
|
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.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.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.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.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.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.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp)
|
rs773509355
|
0.00003
|
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.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.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.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.330C>A (p.Asp110Glu)
|
rs397508537
|
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.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.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.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.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
|
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.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.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.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.1499G>A (p.Gly500Asp)
|
rs774945680
|
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.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.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.15T>C (p.Pro5=)
|
rs751475070
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
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.1796C>G (p.Thr599Ser)
|
rs754945422
|
0.00001
|
NM_000492.4(CFTR):c.1809C>T (p.Val603=)
|
rs777795393
|
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.1926A>C (p.Ser642=)
|
rs1554389299
|
0.00001
|
NM_000492.4(CFTR):c.1929A>G (p.Lys643=)
|
rs1792035121
|
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.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.2327C>T (p.Ser776Leu)
|
rs397508365
|
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.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.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.2810dup (p.Val938fs)
|
rs193922510
|
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.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.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.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000492.4(CFTR):c.300C>G (p.Leu100=)
|
rs1206224160
|
0.00001
|
NM_000492.4(CFTR):c.333G>A (p.Pro111=)
|
rs776878618
|
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.3406G>A (p.Ala1136Thr)
|
rs755968404
|
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.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.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.3895A>G (p.Thr1299Ala)
|
rs750604866
|
0.00001
|
NM_000492.4(CFTR):c.3903A>G (p.Arg1301=)
|
rs774683612
|
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.4037T>A (p.Leu1346Gln)
|
rs1313341594
|
0.00001
|
NM_000492.4(CFTR):c.403A>T (p.Thr135Ser)
|
rs771512600
|
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.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.441C>G (p.His147Gln)
|
rs759310470
|
0.00001
|
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)
|
rs149197463
|
0.00001
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
NM_000492.4(CFTR):c.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.529A>T (p.Ile177Phe)
|
rs1267579802
|
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.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.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.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+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.900C>A (p.Ala300=)
|
rs146652541
|
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
|
NC_000007.13:g.(?_117118376)_(117307162_?)dup
|
|
|
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.(?_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.(?_117509024)_(117509152_?)dup
|
|
|
NC_000007.14:g.(?_117530879)_(117535431_?)del
|
|
|
NC_000007.14:g.(?_117530889)_(117540356_?)del
|
|
|
NC_000007.14:g.(?_117548631)_(117548835_?)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.(?_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.117530899del
|
|
|
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.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.3376_3381delGAAGGA
|
rs1554392764
|
|
NM_000492.3(CFTR):c.3965_3969dup
|
rs1209386423
|
|
NM_000492.3(CFTR):c.744-?_1584+?dup
|
|
|
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.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.1012_1013del (p.Thr338fs)
|
|
|
NM_000492.4(CFTR):c.1016C>A (p.Thr339Asn)
|
|
|
NM_000492.4(CFTR):c.1017C>T (p.Thr339=)
|
rs1359708278
|
|
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.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
NM_000492.4(CFTR):c.1032T>C (p.Ile344=)
|
|
|
NM_000492.4(CFTR):c.1038G>A (p.Leu346=)
|
rs2116684331
|
|
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.1047G>T (p.Ala349=)
|
rs200520623
|
|
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.1059A>G (p.Gln353=)
|
rs1800087
|
|
NM_000492.4(CFTR):c.105A>C (p.Ser35=)
|
rs2116635193
|
|
NM_000492.4(CFTR):c.1064C>T (p.Pro355Leu)
|
|
|
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
|
|
|
NM_000492.4(CFTR):c.1074A>G (p.Val358=)
|
rs200708728
|
|
NM_000492.4(CFTR):c.1077A>G (p.Gln359=)
|
rs761324191
|
|
NM_000492.4(CFTR):c.1078del (p.Thr360fs)
|
|
|
NM_000492.4(CFTR):c.1079C>T (p.Thr360Ile)
|
|
|
NM_000492.4(CFTR):c.1080A>G (p.Thr360=)
|
rs201246833
|
|
NM_000492.4(CFTR):c.1083del (p.Trp361fs)
|
rs387906375
|
|
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
|
|
|
NM_000492.4(CFTR):c.1092T>A (p.Ser364=)
|
rs1584789482
|
|
NM_000492.4(CFTR):c.109A>G (p.Ile37Val)
|
rs759721412
|
|
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg)
|
rs1799033866
|
|
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+2T>C
|
|
|
NM_000492.4(CFTR):c.1116+6G>A
|
|
|
NM_000492.4(CFTR):c.1116+7T>C
|
rs200659687
|
|
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.1117-26_1117-25del
|
rs397508159
|
|
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.1126C>A (p.Gln376Lys)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)
|
rs397508163
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
|
|
|
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
|
|
|
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.114C>T (p.Tyr38=)
|
|
|
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.1159T>C (p.Leu387=)
|
rs2115882338
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
NM_000492.4(CFTR):c.1161A>G (p.Leu387=)
|
rs1799062301
|
|
NM_000492.4(CFTR):c.1164G>T (p.Thr388=)
|
rs1800088
|
|
NM_000492.4(CFTR):c.1165A>T (p.Thr389Ser)
|
|
|
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.1171_1209+6del
|
|
|
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.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.1189G>C (p.Val397Leu)
|
rs1225700054
|
|
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)
|
rs146463120
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.11C>T (p.Ser4Leu)
|
|
|
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+80G>A
|
rs948980243
|
|
NM_000492.4(CFTR):c.1209+9T>G
|
|
|
NM_000492.4(CFTR):c.120C>T (p.Ile40=)
|
rs376538363
|
|
NM_000492.4(CFTR):c.1210-11_1210-9delinsG
|
rs2115902456
|
|
NM_000492.4(CFTR):c.1210-11delinsGTG
|
rs1584793368
|
|
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_1210-8del
|
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.1210-17G>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.1210-19G>A
|
|
|
NM_000492.4(CFTR):c.1210-30T>G
|
|
|
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.1210-6dup
|
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.1212A>T (p.Gly404=)
|
|
|
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu)
|
rs559197407
|
|
NM_000492.4(CFTR):c.1221A>G (p.Glu407=)
|
rs2115902714
|
|
NM_000492.4(CFTR):c.1222T>C (p.Leu408=)
|
|
|
NM_000492.4(CFTR):c.1224_1227del (p.Phe409fs)
|
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
NM_000492.4(CFTR):c.123T>C (p.Pro41=)
|
rs1798379857
|
|
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.1245C>T (p.Asn415=)
|
|
|
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.1261dup (p.Thr421fs)
|
rs2115903081
|
|
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.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.1290del (p.Phe430fs)
|
|
|
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.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.1311T>C (p.Gly437=)
|
rs1562895049
|
|
NM_000492.4(CFTR):c.1317T>C (p.Pro439=)
|
rs1562895052
|
|
NM_000492.4(CFTR):c.131A>T (p.Asp44Val)
|
|
|
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.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met)
|
rs1799214404
|
|
NM_000492.4(CFTR):c.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.1353A>G (p.Gly451=)
|
rs1220983447
|
|
NM_000492.4(CFTR):c.135T>A (p.Ser45=)
|
|
|
NM_000492.4(CFTR):c.135T>G (p.Ser45=)
|
|
|
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.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
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.137C>A (p.Ala46Asp)
|
rs151020603
|
|
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr)
|
rs1799216405
|
|
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
|
|
|
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+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+7C>T
|
|
|
NM_000492.4(CFTR):c.1392+9T>C
|
|
|
NM_000492.4(CFTR):c.1393-18G>A
|
rs397508199
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
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.1393-6T>C
|
rs966524603
|
|
NM_000492.4(CFTR):c.1393-8A>T
|
rs2115937364
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)
|
|
|
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
|
|
|
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>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.1437G>A (p.Glu479=)
|
rs754152822
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1441A>G (p.Lys481Glu)
|
|
|
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val)
|
rs1799418782
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
NM_000492.4(CFTR):c.1451A>G (p.His484Arg)
|
rs1427892651
|
|
NM_000492.4(CFTR):c.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.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)
|
rs121908775
|
|
NM_000492.4(CFTR):c.147A>C (p.Leu49=)
|
|
|
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
|
|
|
NM_000492.4(CFTR):c.1484C>G (p.Ser495Cys)
|
|
|
NM_000492.4(CFTR):c.1485C>G (p.Ser495=)
|
|
|
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)
|
rs1554384382
|
|
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)
|
rs397508216
|
|
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro)
|
rs397508217
|
|
NM_000492.4(CFTR):c.1493T>C (p.Met498Thr)
|
|
|
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.1502C>T (p.Thr501Ile)
|
rs1799421850
|
|
NM_000492.4(CFTR):c.1503C>T (p.Thr501=)
|
|
|
NM_000492.4(CFTR):c.150T>G (p.Ser50=)
|
rs2116635296
|
|
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.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe)
|
rs1801178
|
|
NM_000492.4(CFTR):c.1528G>T (p.Val510Phe)
|
rs752955846
|
|
NM_000492.4(CFTR):c.1535A>G (p.Tyr512Cys)
|
rs1048256995
|
|
NM_000492.4(CFTR):c.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.1542A>G (p.Glu514=)
|
|
|
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.154A>T (p.Lys52Ter)
|
|
|
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.1560C>T (p.Val520=)
|
rs768151081
|
|
NM_000492.4(CFTR):c.156del (p.Lys52fs)
|
rs1346705436
|
|
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.1584+10T>G
|
|
|
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+53_1584+63dup
|
rs397508232
|
|
NM_000492.4(CFTR):c.1584+9C>T
|
rs2115939119
|
|
NM_000492.4(CFTR):c.159G>A (p.Leu53=)
|
rs2116635315
|
|
NM_000492.4(CFTR):c.15del (p.Leu6fs)
|
|
|
NM_000492.4(CFTR):c.161A>C (p.Glu54Ala)
|
|
|
NM_000492.4(CFTR):c.164+10T>A
|
rs1310634696
|
|
NM_000492.4(CFTR):c.164+10T>C
|
rs1310634696
|
|
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>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+2T>C
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+3A>G
|
|
|
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.164G>A (p.Arg55Lys)
|
|
|
NM_000492.4(CFTR):c.1680-1G>C
|
rs121908794
|
|
NM_000492.4(CFTR):c.1680-20A>C
|
|
|
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.1680-9T>C
|
rs1252191433
|
|
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.1689C>A (p.Tyr563Ter)
|
|
|
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.16C>T (p.Leu6=)
|
rs1554373095
|
|
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.1705T>C (p.Tyr569His)
|
rs397508276
|
|
NM_000492.4(CFTR):c.1709del (p.Leu570fs)
|
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn)
|
rs397508282
|
|
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly)
|
rs1792007322
|
|
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
|
|
|
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser)
|
rs397508283
|
|
NM_000492.4(CFTR):c.1722T>A (p.Pro574=)
|
|
|
NM_000492.4(CFTR):c.1732C>T (p.Leu578=)
|
rs979121392
|
|
NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)
|
|
|
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.1743A>T (p.Leu581Phe)
|
|
|
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.1758A>T (p.Ile586=)
|
rs1462572352
|
|
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+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+3A>C
|
rs397508298
|
|
NM_000492.4(CFTR):c.1766+7T>A
|
|
|
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.1767-4A>G
|
rs2116029980
|
|
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.1775G>A (p.Cys592Tyr)
|
|
|
NM_000492.4(CFTR):c.1779A>G (p.Lys593=)
|
rs1217712466
|
|
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.1792_1798del (p.Lys598fs)
|
rs397508303
|
|
NM_000492.4(CFTR):c.1804T>C (p.Leu602=)
|
rs1380798382
|
|
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.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1824A>G (p.Glu608=)
|
rs2116030297
|
|
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)
|
rs397508310
|
|
NM_000492.4(CFTR):c.1828T>C (p.Leu610=)
|
|
|
NM_000492.4(CFTR):c.1840G>A (p.Asp614Asn)
|
rs397508312
|
|
NM_000492.4(CFTR):c.1846A>G (p.Ile616Val)
|
|
|
NM_000492.4(CFTR):c.1848A>G (p.Ile616Met)
|
|
|
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.1863A>G (p.Glu621=)
|
|
|
NM_000492.4(CFTR):c.1867dup (p.Ser623fs)
|
|
|
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.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
NM_000492.4(CFTR):c.1902A>G (p.Gln634=)
|
rs2116030586
|
|
NM_000492.4(CFTR):c.1904del (p.Asn635fs)
|
rs1381239923
|
|
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.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.1920T>G (p.Phe640Leu)
|
|
|
NM_000492.4(CFTR):c.1936G>A (p.Gly646Arg)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.1938A>G (p.Gly646=)
|
|
|
NM_000492.4(CFTR):c.1941T>C (p.Cys647=)
|
|
|
NM_000492.4(CFTR):c.1947T>C (p.Ser649=)
|
|
|
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.1960A>T (p.Ser654Cys)
|
rs1800099
|
|
NM_000492.4(CFTR):c.1962T>C (p.Ser654=)
|
rs1792036042
|
|
NM_000492.4(CFTR):c.1966G>C (p.Glu656Gln)
|
|
|
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp)
|
rs1060503163
|
|
NM_000492.4(CFTR):c.1974A>G (p.Arg658=)
|
rs2116031024
|
|
NM_000492.4(CFTR):c.1976del (p.Asn659fs)
|
rs121908809
|
|
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val)
|
rs777973729
|
|
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs)
|
rs397508325
|
|
NM_000492.4(CFTR):c.1990G>C (p.Glu664Gln)
|
|
|
NM_000492.4(CFTR):c.1992G>T (p.Glu664Asp)
|
rs1792036683
|
|
NM_000492.4(CFTR):c.1995C>A (p.Thr665=)
|
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
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.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.2019A>G (p.Gly673=)
|
rs2116031424
|
|
NM_000492.4(CFTR):c.2022T>C (p.Asp674=)
|
rs1259091056
|
|
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)
|
rs762888022
|
|
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)
|
rs397508333
|
|
NM_000492.4(CFTR):c.2044del (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.2046A>G (p.Thr682=)
|
rs2116031574
|
|
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.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.2067G>A (p.Gln689=)
|
|
|
NM_000492.4(CFTR):c.2070T>C (p.Thr690=)
|
|
|
NM_000492.4(CFTR):c.2072G>T (p.Gly691Val)
|
|
|
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.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.2106C>G (p.Leu702=)
|
rs1800102
|
|
NM_000492.4(CFTR):c.2106C>T (p.Leu702=)
|
rs1800102
|
|
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.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.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.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.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln)
|
rs2116032118
|
|
NM_000492.4(CFTR):c.2148G>A (p.Lys716=)
|
rs2116032125
|
|
NM_000492.4(CFTR):c.2151T>G (p.Thr717=)
|
rs2116032144
|
|
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.216C>G (p.Ala72=)
|
|
|
NM_000492.4(CFTR):c.216C>T (p.Ala72=)
|
rs1033366496
|
|
NM_000492.4(CFTR):c.2172C>T (p.Ile724=)
|
rs368599862
|
|
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
|
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
NM_000492.4(CFTR):c.2181T>C (p.Asp727=)
|
rs1792043547
|
|
NM_000492.4(CFTR):c.2188G>A (p.Glu730Lys)
|
|
|
NM_000492.4(CFTR):c.2190G>A (p.Glu730=)
|
|
|
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
|
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2205G>C (p.Arg735Ser)
|
rs2116032368
|
|
NM_000492.4(CFTR):c.2208G>A (p.Leu736=)
|
|
|
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.2225C>T (p.Ser742Phe)
|
|
|
NM_000492.4(CFTR):c.2226T>C (p.Ser742=)
|
rs2116032463
|
|
NM_000492.4(CFTR):c.2231A>C (p.Gln744Pro)
|
|
|
NM_000492.4(CFTR):c.2235A>G (p.Gly745=)
|
|
|
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs)
|
rs397508355
|
|
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.2261del (p.Val754fs)
|
rs2116032687
|
|
NM_000492.4(CFTR):c.227G>T (p.Cys76Phe)
|
|
|
NM_000492.4(CFTR):c.2286G>A (p.Gln762=)
|
|
|
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr)
|
rs2116032836
|
|
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.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.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.2327C>G (p.Ser776Ter)
|
rs397508365
|
|
NM_000492.4(CFTR):c.2328A>G (p.Ser776=)
|
rs2116033048
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)
|
rs397508368
|
|
NM_000492.4(CFTR):c.2346C>T (p.Asn782=)
|
|
|
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
|
|
|
NM_000492.4(CFTR):c.234C>T (p.Phe78=)
|
|
|
NM_000492.4(CFTR):c.2354G>C (p.Arg785Pro)
|
|
|
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.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)
|
|
|
NM_000492.4(CFTR):c.2389G>T (p.Ala797Ser)
|
|
|
NM_000492.4(CFTR):c.2399C>T (p.Ala800Val)
|
|
|
NM_000492.4(CFTR):c.2403C>G (p.Asn801Lys)
|
|
|
NM_000492.4(CFTR):c.2413C>T (p.Leu805=)
|
rs2116033549
|
|
NM_000492.4(CFTR):c.2415G>C (p.Leu805=)
|
|
|
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>T (p.Ser809Leu)
|
|
|
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter)
|
rs377447726
|
|
NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr)
|
rs1798471062
|
|
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.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.2440C>T (p.Gln814Ter)
|
rs397508377
|
|
NM_000492.4(CFTR):c.244A>G (p.Met82Val)
|
rs1554376431
|
|
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
|
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs)
|
rs797045156
|
|
NM_000492.4(CFTR):c.2472T>A (p.Ile824=)
|
|
|
NM_000492.4(CFTR):c.2472T>C (p.Ile824=)
|
|
|
NM_000492.4(CFTR):c.2472del (p.Asn825fs)
|
rs397508380
|
|
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)
|
rs1554389486
|
|
NM_000492.4(CFTR):c.2478AGA[1] (p.Glu827del)
|
rs2116034014
|
|
NM_000492.4(CFTR):c.2483A>G (p.Asp828Gly)
|
|
|
NM_000492.4(CFTR):c.2484C>T (p.Asp828=)
|
|
|
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+6del
|
rs2116034194
|
|
NM_000492.4(CFTR):c.2490+7A>G
|
rs751864459
|
|
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.2491-5T>C
|
|
|
NM_000492.4(CFTR):c.2491-7T>A
|
|
|
NM_000492.4(CFTR):c.2493G>A (p.Glu831=)
|
|
|
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.2503G>A (p.Asp835Asn)
|
rs2116039305
|
|
NM_000492.4(CFTR):c.2508T>C (p.Asp836=)
|
|
|
NM_000492.4(CFTR):c.2515A>C (p.Ser839Arg)
|
rs2116039371
|
|
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.2538G>A (p.Trp846Ter)
|
rs267606722
|
|
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)
|
rs1584776437
|
|
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>T (p.Tyr849=)
|
rs397508394
|
|
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.2556T>C (p.Tyr852=)
|
|
|
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.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.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.2574C>T (p.Ser858=)
|
rs2116039690
|
|
NM_000492.4(CFTR):c.257T>A (p.Ile86Asn)
|
rs1798471787
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
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.2601dup (p.Val868fs)
|
rs397508405
|
|
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+7A>C
|
rs2116039906
|
|
NM_000492.4(CFTR):c.2619+7A>G
|
rs2116039906
|
|
NM_000492.4(CFTR):c.2619+8T>C
|
|
|
NM_000492.4(CFTR):c.2619+8T>G
|
|
|
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.2620-2A>G
|
rs1554390859
|
|
NM_000492.4(CFTR):c.2620-4C>A
|
rs1180219519
|
|
NM_000492.4(CFTR):c.2620-7A>G
|
rs1335322650
|
|
NM_000492.4(CFTR):c.2620-8C>T
|
|
|
NM_000492.4(CFTR):c.2620-9C>G
|
rs1239102386
|
|
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.2636T>A (p.Val879Asp)
|
|
|
NM_000492.4(CFTR):c.2637T>C (p.Val879=)
|
|
|
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)
|
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.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.2658-4A>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.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
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.2692A>G (p.Ser898Gly)
|
|
|
NM_000492.4(CFTR):c.2694T>C (p.Ser898=)
|
rs2116061252
|
|
NM_000492.4(CFTR):c.2697A>G (p.Arg899=)
|
rs2116061262
|
|
NM_000492.4(CFTR):c.2705G>C (p.Ser902Thr)
|
rs2116061306
|
|
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
|
|
|
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.2724C>T (p.Thr908=)
|
|
|
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
|
|
|
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+8T>A
|
rs1189108407
|
|
NM_000492.4(CFTR):c.2730C>A (p.Thr910=)
|
rs2116061425
|
|
NM_000492.4(CFTR):c.2730C>T (p.Thr910=)
|
|
|
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.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.274-16T>C
|
|
|
NM_000492.4(CFTR):c.274-18G>A
|
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.274-2A>C
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-2A>G
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-5T>A
|
rs1454461758
|
|
NM_000492.4(CFTR):c.274-5_274-2del
|
rs1584784850
|
|
NM_000492.4(CFTR):c.274-7T>C
|
|
|
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.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>T (p.Ile918Phe)
|
rs1267646551
|
|
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>T (p.Val920Leu)
|
rs373885282
|
|
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.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.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser)
|
rs397508437
|
|
NM_000492.4(CFTR):c.2802T>C (p.Gly934=)
|
|
|
NM_000492.4(CFTR):c.280A>C (p.Thr94Pro)
|
rs1434378124
|
|
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.2817T>C (p.His939=)
|
rs770410806
|
|
NM_000492.4(CFTR):c.2818_2831del (p.Thr940fs)
|
|
|
NM_000492.4(CFTR):c.2820T>C (p.Thr940=)
|
rs60887846
|
|
NM_000492.4(CFTR):c.2822del (p.Leu941fs)
|
rs762844777
|
|
NM_000492.4(CFTR):c.2825del (p.Ile942fs)
|
rs397508441
|
|
NM_000492.4(CFTR):c.2832G>T (p.Val944=)
|
|
|
NM_000492.4(CFTR):c.2835G>T (p.Ser945=)
|
rs193922513
|
|
NM_000492.4(CFTR):c.2838A>G (p.Lys946=)
|
rs2116062142
|
|
NM_000492.4(CFTR):c.2842T>C (p.Leu948=)
|
rs2116062157
|
|
NM_000492.4(CFTR):c.284A>G (p.Lys95Arg)
|
|
|
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.285A>G (p.Lys95=)
|
rs1584784870
|
|
NM_000492.4(CFTR):c.2872C>T (p.Gln958Ter)
|
rs2116062284
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
|
|
|
NM_000492.4(CFTR):c.2889C>T (p.Thr963=)
|
|
|
NM_000492.4(CFTR):c.288A>G (p.Ala96=)
|
rs2116669907
|
|
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.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
|
|
|
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+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>C (p.Gly970Arg)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2909-10T>C
|
|
|
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.2909-7A>T
|
rs1792304646
|
|
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.2918T>C (p.Leu973Pro)
|
rs397508460
|
|
NM_000492.4(CFTR):c.2919T>A (p.Leu973=)
|
rs1453045670
|
|
NM_000492.4(CFTR):c.291A>G (p.Val97=)
|
|
|
NM_000492.4(CFTR):c.2922T>C (p.Asn974=)
|
|
|
NM_000492.4(CFTR):c.2925A>G (p.Arg975=)
|
|
|
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.2937T>C (p.Asp979=)
|
rs1792305947
|
|
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
|
|
|
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn)
|
rs764644021
|
|
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.2974T>C (p.Phe992Leu)
|
rs1043006335
|
|
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.2988+10A>C
|
rs2116069977
|
|
NM_000492.4(CFTR):c.2988+16T>A
|
|
|
NM_000492.4(CFTR):c.2988+19C>T
|
|
|
NM_000492.4(CFTR):c.2988+1G>T
|
rs75096551
|
|
NM_000492.4(CFTR):c.2988+20G>T
|
|
|
NM_000492.4(CFTR):c.2988+33G>T
|
|
|
NM_000492.4(CFTR):c.2988+9A>T
|
|
|
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.300C>T (p.Leu100=)
|
rs1206224160
|
|
NM_000492.4(CFTR):c.300_301del (p.Leu101fs)
|
rs2116669950
|
|
NM_000492.4(CFTR):c.303A>G (p.Leu101=)
|
|
|
NM_000492.4(CFTR):c.303dup (p.Leu102fs)
|
rs397508486
|
|
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.306G>T (p.Leu102=)
|
|
|
NM_000492.4(CFTR):c.307G>T (p.Gly103Ter)
|
rs1584784895
|
|
NM_000492.4(CFTR):c.308del (p.Gly103fs)
|
|
|
NM_000492.4(CFTR):c.30C>T (p.Ser10=)
|
rs1369001389
|
|
NM_000492.4(CFTR):c.312A>G (p.Arg104=)
|
rs2116670032
|
|
NM_000492.4(CFTR):c.313A>C (p.Ile105Leu)
|
rs758675549
|
|
NM_000492.4(CFTR):c.313del (p.Ile105fs)
|
rs121908801
|
|
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn)
|
rs397508509
|
|
NM_000492.4(CFTR):c.316A>G (p.Ile106Val)
|
rs1024092547
|
|
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
|
|
|
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer)
|
rs397508516
|
|
NM_000492.4(CFTR):c.321T>A (p.Ala107=)
|
rs778204477
|
|
NM_000492.4(CFTR):c.322T>C (p.Ser108Pro)
|
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
|
|
NM_000492.4(CFTR):c.327T>C (p.Tyr109=)
|
|
|
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.330C>G (p.Asp110Glu)
|
|
|
NM_000492.4(CFTR):c.332del (p.Pro111fs)
|
rs2116670123
|
|
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.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-3T>C
|
rs2116096154
|
|
NM_000492.4(CFTR):c.3368-4A>G
|
rs748811222
|
|
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>C (p.Val1129Leu)
|
rs2116096247
|
|
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)
|
rs397508550
|
|
NM_000492.4(CFTR):c.3399G>A (p.Leu1133=)
|
rs1792456177
|
|
NM_000492.4(CFTR):c.3403T>C (p.Leu1135=)
|
|
|
NM_000492.4(CFTR):c.3404T>A (p.Leu1135Ter)
|
rs1792456313
|
|
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
|
|
|
NM_000492.4(CFTR):c.3408C>T (p.Ala1136=)
|
|
|
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
|
|
|
NM_000492.4(CFTR):c.3418A>T (p.Met1140Leu)
|
|
|
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile)
|
rs1554392775
|
|
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.342G>A (p.Lys114=)
|
|
|
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter)
|
rs397508560
|
|
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.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+1G>T
|
rs1554392798
|
|
NM_000492.4(CFTR):c.3469-10T>C
|
|
|
NM_000492.4(CFTR):c.3469-14T>C
|
|
|
NM_000492.4(CFTR):c.3469-16_3469-15del
|
rs2116128700
|
|
NM_000492.4(CFTR):c.3469-3C>A
|
|
|
NM_000492.4(CFTR):c.3469-4del
|
|
|
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.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.3480G>A (p.Val1160=)
|
rs1298788637
|
|
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.3492dup (p.Lys1165Ter)
|
rs387906379
|
|
NM_000492.4(CFTR):c.3494A>C (p.Lys1165Thr)
|
rs753508195
|
|
NM_000492.4(CFTR):c.3498C>G (p.Phe1166Leu)
|
rs1792670307
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.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.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.3514G>C (p.Glu1172Gln)
|
|
|
NM_000492.4(CFTR):c.351C>T (p.Arg117=)
|
rs2116670233
|
|
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.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)
|
rs121908782
|
|
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.354T>C (p.Ser118=)
|
rs2116670246
|
|
NM_000492.4(CFTR):c.3555C>A (p.Gly1185=)
|
|
|
NM_000492.4(CFTR):c.3555C>T (p.Gly1185=)
|
rs2116129370
|
|
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu)
|
rs1036123285
|
|
NM_000492.4(CFTR):c.3567A>G (p.Lys1189=)
|
|
|
NM_000492.4(CFTR):c.3571dup (p.Met1191fs)
|
|
|
NM_000492.4(CFTR):c.3574A>T (p.Ile1192Phe)
|
rs1792672546
|
|
NM_000492.4(CFTR):c.357C>A (p.Ile119=)
|
rs1264742569
|
|
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.359C>T (p.Ala120Val)
|
rs1265244783
|
|
NM_000492.4(CFTR):c.3605del (p.Asp1202fs)
|
rs397508587
|
|
NM_000492.4(CFTR):c.3606C>T (p.Asp1202=)
|
rs2116129667
|
|
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter)
|
rs121908764
|
|
NM_000492.4(CFTR):c.3615C>G (p.Pro1205=)
|
|
|
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)
|
rs397508588
|
|
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.3623dup (p.Gln1209fs)
|
|
|
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu)
|
rs151264397
|
|
NM_000492.4(CFTR):c.3637A>C (p.Lys1213Gln)
|
|
|
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn)
|
rs397508592
|
|
NM_000492.4(CFTR):c.3657C>T (p.Tyr1219=)
|
rs2116129887
|
|
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.3684G>A (p.Glu1228=)
|
|
|
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=)
|
rs139322772
|
|
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
|
|
|
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro)
|
rs1792676456
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.3699A>G (p.Ser1233=)
|
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
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+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3717+40A>T
|
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
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.3718-24G>T
|
rs374013084
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
NM_000492.4(CFTR):c.3718-5_3725del
|
rs2116166586
|
|
NM_000492.4(CFTR):c.3718-9A>T
|
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3722G>A (p.Gly1241Asp)
|
|
|
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.372C>T (p.Gly124=)
|
rs1060503162
|
|
NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg)
|
rs397508599
|
|
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>T (p.Gly1247Ter)
|
|
|
NM_000492.4(CFTR):c.3740G>A (p.Gly1247Glu)
|
|
|
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.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.3756T>C (p.Thr1252=)
|
|
|
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.3765A>G (p.Ser1255=)
|
|
|
NM_000492.4(CFTR):c.3767C>G (p.Ala1256Gly)
|
rs773852510
|
|
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.377G>C (p.Gly126Ala)
|
rs397508609
|
|
NM_000492.4(CFTR):c.3780A>C (p.Leu1260=)
|
|
|
NM_000492.4(CFTR):c.3783G>C (p.Leu1261=)
|
rs771812900
|
|
NM_000492.4(CFTR):c.3788del (p.Thr1263fs)
|
|
|
NM_000492.4(CFTR):c.378C>T (p.Gly126=)
|
|
|
NM_000492.4(CFTR):c.3792del (p.Gly1265fs)
|
|
|
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.3796G>T (p.Glu1266Ter)
|
rs1584837090
|
|
NM_000492.4(CFTR):c.3798A>G (p.Glu1266=)
|
|
|
NM_000492.4(CFTR):c.379T>C (p.Leu127=)
|
rs2116670348
|
|
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.3810T>C (p.Asp1270=)
|
|
|
NM_000492.4(CFTR):c.3816G>A (p.Val1272=)
|
|
|
NM_000492.4(CFTR):c.381A>G (p.Leu127=)
|
|
|
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>C (p.Leu1279Ser)
|
rs1286786026
|
|
NM_000492.4(CFTR):c.3840A>G (p.Gln1280=)
|
|
|
NM_000492.4(CFTR):c.3842A>G (p.Gln1281Arg)
|
rs752127256
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser)
|
rs1792935893
|
|
NM_000492.4(CFTR):c.384C>T (p.Cys128=)
|
rs1388235792
|
|
NM_000492.4(CFTR):c.3853G>A (p.Ala1285Thr)
|
rs868174013
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3855C>G (p.Ala1285=)
|
|
|
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.3868C>T (p.Pro1290Ser)
|
rs397508619
|
|
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)
|
rs397508620
|
|
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+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.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.3874-27TTC[2]
|
rs397508623
|
|
NM_000492.4(CFTR):c.3874-4A>C
|
rs201381687
|
|
NM_000492.4(CFTR):c.3874-8del
|
rs1562926012
|
|
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.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.388C>G (p.Leu130Val)
|
rs397508632
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3900T>C (p.Phe1300=)
|
|
|
NM_000492.4(CFTR):c.3904A>G (p.Lys1302Glu)
|
|
|
NM_000492.4(CFTR):c.3908del (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs)
|
rs397508637
|
|
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.3918C>T (p.Pro1306=)
|
rs1800132
|
|
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter)
|
rs193922732
|
|
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)
|
rs1793109904
|
|
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)
|
rs121909026
|
|
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.3954T>G (p.Val1318=)
|
|
|
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu)
|
rs397508649
|
|
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+20T>G
|
|
|
NM_000492.4(CFTR):c.3963+5G>C
|
|
|
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.3964-1_3964delinsTT
|
|
|
NM_000492.4(CFTR):c.3964-20A>C
|
|
|
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>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.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3972C>G (p.Leu1324=)
|
|
|
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.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.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.3999del (p.Lys1334fs)
|
rs886042527
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4008C>T (p.Asp1336=)
|
|
|
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val)
|
rs397508659
|
|
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe)
|
rs397508660
|
|
NM_000492.4(CFTR):c.4018G>C (p.Val1340Leu)
|
rs1554397492
|
|
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys)
|
rs1584785049
|
|
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.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.4044T>C (p.His1348=)
|
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4047C>T (p.Gly1349=)
|
rs2116221068
|
|
NM_000492.4(CFTR):c.4052del (p.Lys1351fs)
|
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
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.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.4061T>C (p.Met1354Thr)
|
rs755993775
|
|
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg)
|
rs755993775
|
|
NM_000492.4(CFTR):c.4068G>A (p.Leu1356=)
|
|
|
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.407T>C (p.Leu136Pro)
|
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.4086dup (p.Lys1363Ter)
|
rs397508669
|
|
NM_000492.4(CFTR):c.408G>C (p.Leu136=)
|
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.40A>C (p.Lys14Gln)
|
|
|
NM_000492.4(CFTR):c.4104G>A (p.Leu1368=)
|
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=)
|
rs1793345960
|
|
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly)
|
rs115147093
|
|
NM_000492.4(CFTR):c.4126T>C (p.Leu1376=)
|
rs2116221499
|
|
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)
|
rs150683293
|
|
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+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.4137-4C>T
|
rs766178879
|
|
NM_000492.4(CFTR):c.4137-5dup
|
rs1171674692
|
|
NM_000492.4(CFTR):c.4137-8T>C
|
|
|
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>T (p.Tyr1381Phe)
|
|
|
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)
|
rs397508684
|
|
NM_000492.4(CFTR):c.4147A>G (p.Ile1383Val)
|
|
|
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro)
|
rs397508688
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4178C>G (p.Ala1393Gly)
|
rs2116222697
|
|
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
|
|
|
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.4197C>T (p.Leu1399=)
|
rs79688066
|
|
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)
|
rs397508693
|
|
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>T (p.Glu1401Ter)
|
rs397508696
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
|
|
|
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)
|
rs397508700
|
|
NM_000492.4(CFTR):c.4230C>A (p.Cys1410Ter)
|
|
|
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.423C>T (p.Ala141=)
|
rs1584785096
|
|
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+6T>C
|
rs1562929200
|
|
NM_000492.4(CFTR):c.4242+7C>T
|
rs1793361429
|
|
NM_000492.4(CFTR):c.424A>G (p.Ile142Val)
|
rs1562889369
|
|
NM_000492.4(CFTR):c.429del (p.Phe143fs)
|
rs387906364
|
|
NM_000492.4(CFTR):c.432C>T (p.Gly144=)
|
rs1431645851
|
|
NM_000492.4(CFTR):c.43del (p.Leu15fs)
|
rs397508715
|
|
NM_000492.4(CFTR):c.442del (p.Ile148fs)
|
rs121908770
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
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.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.45T>G (p.Leu15=)
|
rs1212474322
|
|
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly)
|
rs1554379882
|
|
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.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.480T>C (p.Ile160=)
|
|
|
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>T (p.Lys163Met)
|
rs1562889435
|
|
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+8T>C
|
rs727504712
|
|
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.490-2A>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.492T>A (p.Thr164=)
|
|
|
NM_000492.4(CFTR):c.492T>C (p.Thr164=)
|
|
|
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer)
|
rs397508737
|
|
NM_000492.4(CFTR):c.498G>A (p.Lys166=)
|
|
|
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn)
|
rs2116674891
|
|
NM_000492.4(CFTR):c.499C>T (p.Leu167=)
|
|
|
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.503C>G (p.Ser168Ter)
|
rs869249241
|
|
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.518A>T (p.Asp173Val)
|
|
|
NM_000492.4(CFTR):c.51del (p.Phe17fs)
|
rs1317756653
|
|
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+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+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+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.54-11C>T
|
|
|
NM_000492.4(CFTR):c.54-11_54-8del
|
rs750763328
|
|
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.54-4T>G
|
rs2116635058
|
|
NM_000492.4(CFTR):c.54-8T>C
|
rs778197563
|
|
NM_000492.4(CFTR):c.54-9T>C
|
rs1584774278
|
|
NM_000492.4(CFTR):c.540T>G (p.Leu180=)
|
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000492.4(CFTR):c.560del (p.Asn187fs)
|
rs1562890223
|
|
NM_000492.4(CFTR):c.561C>T (p.Asn187=)
|
rs397508754
|
|
NM_000492.4(CFTR):c.567C>T (p.Asn189=)
|
rs397508755
|
|
NM_000492.4(CFTR):c.574G>C (p.Asp192His)
|
|
|
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+8C>A
|
|
|
NM_000492.4(CFTR):c.579+8C>G
|
|
|
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.580-3C>T
|
rs2116676312
|
|
NM_000492.4(CFTR):c.580-9A>G
|
rs1584786873
|
|
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.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.594A>C (p.Ala198=)
|
rs1481956057
|
|
NM_000492.4(CFTR):c.596A>G (p.His199Arg)
|
rs397508764
|
|
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.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.613C>A (p.Pro205Thr)
|
rs121908803
|
|
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg)
|
rs397508769
|
|
NM_000492.4(CFTR):c.618G>A (p.Leu206=)
|
|
|
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe)
|
rs397508770
|
|
NM_000492.4(CFTR):c.630C>A (p.Leu210=)
|
|
|
NM_000492.4(CFTR):c.633C>T (p.Leu211=)
|
rs2116676523
|
|
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.651G>A (p.Glu217=)
|
rs1422913967
|
|
NM_000492.4(CFTR):c.652T>C (p.Leu218=)
|
rs1798932836
|
|
NM_000492.4(CFTR):c.657A>G (p.Leu219=)
|
rs1798933085
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.662C>A (p.Ala221Glu)
|
|
|
NM_000492.4(CFTR):c.668C>T (p.Ala223Val)
|
|
|
NM_000492.4(CFTR):c.669C>G (p.Ala223=)
|
rs2116676667
|
|
NM_000492.4(CFTR):c.675T>C (p.Cys225=)
|
|
|
NM_000492.4(CFTR):c.678A>T (p.Gly226=)
|
rs1584787037
|
|
NM_000492.4(CFTR):c.684T>C (p.Gly228=)
|
|
|
NM_000492.4(CFTR):c.688C>T (p.Leu230=)
|
rs201410793
|
|
NM_000492.4(CFTR):c.696C>A (p.Val232=)
|
rs2116676736
|
|
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp)
|
rs769016520
|
|
NM_000492.4(CFTR):c.705T>G (p.Leu235=)
|
rs762380161
|
|
NM_000492.4(CFTR):c.708del (p.Gln237fs)
|
rs1299250440
|
|
NM_000492.4(CFTR):c.710A>C (p.Gln237Pro)
|
|
|
NM_000492.4(CFTR):c.711G>C (p.Gln237His)
|
rs397508785
|
|
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.71del (p.Ile23_Leu24insTer)
|
|
|
NM_000492.4(CFTR):c.721G>T (p.Gly241Trp)
|
|
|
NM_000492.4(CFTR):c.723G>A (p.Gly241=)
|
|
|
NM_000492.4(CFTR):c.72G>A (p.Leu24=)
|
|
|
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs)
|
rs1057517342
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+11A>T
|
|
|
NM_000492.4(CFTR):c.743+16C>G
|
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000492.4(CFTR):c.743+2T>C
|
rs1584787119
|
|
NM_000492.4(CFTR):c.743+8C>T
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|
|
NM_000492.4(CFTR):c.743+9C>G
|
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
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|
NM_000492.4(CFTR):c.744-8A>C
|
rs2116678470
|
|
NM_000492.4(CFTR):c.745G>T (p.Asp249Tyr)
|
|
|
NM_000492.4(CFTR):c.754G>A (p.Ala252Thr)
|
rs748582435
|
|
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg)
|
rs1343896905
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|
NM_000492.4(CFTR):c.765C>T (p.Ile255=)
|
rs1202176665
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|
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly)
|
rs773790621
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|
NM_000492.4(CFTR):c.768T>C (p.Ser256=)
|
rs2116678553
|
|
NM_000492.4(CFTR):c.770A>G (p.Glu257Gly)
|
|
|
NM_000492.4(CFTR):c.773G>A (p.Arg258Lys)
|
rs377514639
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|
NM_000492.4(CFTR):c.774A>G (p.Arg258=)
|
rs1798960814
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|
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe)
|
rs762640483
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|
NM_000492.4(CFTR):c.780G>A (p.Val260=)
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|
|
NM_000492.4(CFTR):c.780G>C (p.Val260=)
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|
|
NM_000492.4(CFTR):c.789A>T (p.Ser263=)
|
rs1484039409
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|
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
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NM_000492.4(CFTR):c.807C>A (p.Ile269=)
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|
|
NM_000492.4(CFTR):c.810del (p.Gln270fs)
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|
|
NM_000492.4(CFTR):c.813T>G (p.Ser271=)
|
rs1060504846
|
|
NM_000492.4(CFTR):c.819G>A (p.Lys273=)
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|
|
NM_000492.4(CFTR):c.822A>G (p.Ala274=)
|
rs2116678695
|
|
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
|
rs397508799
|
|
NM_000492.4(CFTR):c.828C>T (p.Cys276=)
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|
|
NM_000492.4(CFTR):c.831G>A (p.Trp277Ter)
|
rs2116678722
|
|
NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)
|
|
|
NM_000492.4(CFTR):c.846A>G (p.Glu282=)
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|
|
NM_000492.4(CFTR):c.84C>T (p.Tyr28=)
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|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.851T>C (p.Met284Thr)
|
rs2116678778
|
|
NM_000492.4(CFTR):c.860A>G (p.Asn287Ser)
|
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.867A>G (p.Arg289=)
|
rs1798963965
|
|
NM_000492.4(CFTR):c.869+11C>A
|
|
|
NM_000492.4(CFTR):c.869+3A>T
|
rs1554380828
|
|
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>G
|
|
|
NM_000492.4(CFTR):c.870-13T>C
|
|
|
NM_000492.4(CFTR):c.870-4A>G
|
rs755173693
|
|
NM_000492.4(CFTR):c.870-5del
|
rs759762840
|
|
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>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.878T>G (p.Leu293Arg)
|
|
|
NM_000492.4(CFTR):c.882A>G (p.Lys294=)
|
rs2116683549
|
|
NM_000492.4(CFTR):c.885G>T (p.Leu295=)
|
|
|
NM_000492.4(CFTR):c.892A>T (p.Lys298Ter)
|
rs1584789180
|
|
NM_000492.4(CFTR):c.894G>A (p.Lys298=)
|
|
|
NM_000492.4(CFTR):c.899C>G (p.Ala300Gly)
|
|
|
NM_000492.4(CFTR):c.900C>T (p.Ala300=)
|
rs146652541
|
|
NM_000492.4(CFTR):c.902dup (p.Tyr301Ter)
|
|
|
NM_000492.4(CFTR):c.906G>C (p.Val302=)
|
rs2116683646
|
|
NM_000492.4(CFTR):c.912C>T (p.Tyr304=)
|
|
|
NM_000492.4(CFTR):c.922_926del (p.Ser308fs)
|
rs2116683702
|
|
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>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.940G>T (p.Gly314Trp)
|
rs397508819
|
|
NM_000492.4(CFTR):c.941G>C (p.Gly314Ala)
|
rs75763344
|
|
NM_000492.4(CFTR):c.944T>G (p.Phe315Cys)
|
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000492.4(CFTR):c.948dup (p.Val317fs)
|
|
|
NM_000492.4(CFTR):c.954G>A (p.Val318=)
|
rs766189605
|
|
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.966G>C (p.Val322=)
|
rs2116683990
|
|
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu)
|
rs397508822
|
|
NM_000492.4(CFTR):c.981A>T (p.Leu327=)
|
|
|
NM_000492.4(CFTR):c.987del (p.Gly330fs)
|
rs397508824
|
|
NM_000492.4(CFTR):c.993C>T (p.Ile331=)
|
rs2116684106
|
|
NM_000492.4(CFTR):c.996C>A (p.Ile332=)
|
|
|
NM_000492.4(CFTR):c.9del (p.Arg3fs)
|
|
|
Single allele
|
|
|