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.1393-61A>G
|
rs34855237
|
0.25355
|
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.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
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.2620-15C>G
|
rs139379077
|
0.00212
|
NM_000492.4(CFTR):c.1210-15del
|
rs371831442
|
0.00192
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000492.4(CFTR):c.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.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000492.4(CFTR):c.1210-11_1210-10insG
|
rs551227135
|
0.00072
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
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.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.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.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.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.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
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.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
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.2145A>C (p.Gln715His)
|
rs141235765
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00006
|
NM_000492.4(CFTR):c.2604A>G (p.Val868=)
|
rs1800105
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.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.3964-16T>C
|
rs199672530
|
0.00006
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)
|
rs772774651
|
0.00006
|
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro)
|
rs150177304
|
0.00006
|
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)
|
rs397508720
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000492.4(CFTR):c.662C>T (p.Ala221Val)
|
rs752432390
|
0.00006
|
NM_000492.4(CFTR):c.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.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg)
|
rs375325315
|
0.00005
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)
|
rs148604667
|
0.00005
|
NM_000492.4(CFTR):c.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.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
NM_000492.4(CFTR):c.2052A>G (p.Lys684=)
|
rs750642366
|
0.00004
|
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)
|
rs141880790
|
0.00004
|
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln)
|
rs369040061
|
0.00004
|
NM_000492.4(CFTR):c.2490+14G>T
|
rs573016418
|
0.00004
|
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)
|
rs397508397
|
0.00004
|
NM_000492.4(CFTR):c.26C>T (p.Ala9Val)
|
rs949472192
|
0.00004
|
NM_000492.4(CFTR):c.2805A>G (p.Leu935=)
|
rs368967922
|
0.00004
|
NM_000492.4(CFTR):c.2832G>A (p.Val944=)
|
rs193922512
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.2988G>A (p.Gln996=)
|
rs121908797
|
0.00004
|
NM_000492.4(CFTR):c.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.4096A>T (p.Ile1366Phe)
|
rs770345073
|
0.00004
|
NM_000492.4(CFTR):c.4206C>T (p.His1402=)
|
rs368044495
|
0.00004
|
NM_000492.4(CFTR):c.454A>T (p.Met152Leu)
|
rs397508721
|
0.00004
|
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)
|
rs200885306
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)
|
rs200520623
|
0.00003
|
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=)
|
rs397508155
|
0.00003
|
NM_000492.4(CFTR):c.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.1680-886A>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.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.2895C>A (p.Asn965Lys)
|
rs779569793
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)
|
rs373561883
|
0.00003
|
NM_000492.4(CFTR):c.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.3877G>A (p.Val1293Ile)
|
rs769931559
|
0.00003
|
NM_000492.4(CFTR):c.3933T>G (p.Ser1311Arg)
|
rs962313398
|
0.00003
|
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe)
|
rs145545286
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=)
|
rs763937782
|
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.634A>G (p.Met212Val)
|
rs540269075
|
0.00003
|
NM_000492.4(CFTR):c.674G>A (p.Cys225Tyr)
|
rs866473559
|
0.00003
|
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp)
|
rs773509355
|
0.00003
|
NM_000492.4(CFTR):c.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.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.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
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.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
NM_000492.4(CFTR):c.2713G>C (p.Val905Leu)
|
rs886186687
|
0.00002
|
NM_000492.4(CFTR):c.274-1G>A
|
rs121908792
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly)
|
rs150326506
|
0.00002
|
NM_000492.4(CFTR):c.3627A>G (p.Gln1209=)
|
rs770069168
|
0.00002
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
NM_000492.4(CFTR):c.3723C>A (p.Gly1241=)
|
rs185065886
|
0.00002
|
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)
|
rs200921635
|
0.00002
|
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu)
|
rs752834717
|
0.00002
|
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)
|
rs547248892
|
0.00002
|
NM_000492.4(CFTR):c.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.76A>G (p.Lys26Glu)
|
rs759726535
|
0.00002
|
NM_000492.4(CFTR):c.810A>G (p.Gln270=)
|
rs767312350
|
0.00002
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
NM_000492.4(CFTR):c.917A>G (p.Asn306Ser)
|
rs746375310
|
0.00002
|
NM_000492.4(CFTR):c.964G>A (p.Val322Met)
|
rs1800085
|
0.00002
|
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)
|
rs79031340
|
0.00002
|
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)
|
rs193922533
|
0.00002
|
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.1137A>C (p.Glu379Asp)
|
rs774308232
|
0.00001
|
NM_000492.4(CFTR):c.1209+6A>G
|
rs749054857
|
0.00001
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)
|
rs766063304
|
0.00001
|
NM_000492.4(CFTR):c.1258A>G (p.Lys420Glu)
|
rs377629509
|
0.00001
|
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp)
|
rs765791986
|
0.00001
|
NM_000492.4(CFTR):c.1315C>A (p.Pro439Thr)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.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.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.149C>A (p.Ser50Tyr)
|
rs397508220
|
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.1545T>C (p.Tyr515=)
|
rs747504631
|
0.00001
|
NM_000492.4(CFTR):c.1557C>T (p.Ser519=)
|
rs757736710
|
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.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
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.1770T>C (p.Cys590=)
|
rs1277496713
|
0.00001
|
NM_000492.4(CFTR):c.1792A>G (p.Lys598Glu)
|
rs397508302
|
0.00001
|
NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser)
|
rs754945422
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe)
|
rs1048183757
|
0.00001
|
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser)
|
rs1368033715
|
0.00001
|
NM_000492.4(CFTR):c.1926A>C (p.Ser642=)
|
rs1554389299
|
0.00001
|
NM_000492.4(CFTR):c.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.2112A>G (p.Pro704=)
|
rs926782023
|
0.00001
|
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val)
|
rs745538406
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)
|
rs397508342
|
0.00001
|
NM_000492.4(CFTR):c.2142G>T (p.Val714=)
|
rs1216958032
|
0.00001
|
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val)
|
rs200531709
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2219C>T (p.Pro740Leu)
|
rs150772285
|
0.00001
|
NM_000492.4(CFTR):c.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.232T>C (p.Phe78Leu)
|
rs1181846000
|
0.00001
|
NM_000492.4(CFTR):c.234dup (p.Trp79fs)
|
rs1189377616
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2391C>T (p.Ala797=)
|
rs773521854
|
0.00001
|
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe)
|
rs1314080734
|
0.00001
|
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys)
|
rs1792049376
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
NM_000492.4(CFTR):c.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+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)
|
rs761043298
|
0.00001
|
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)
|
rs758128209
|
0.00001
|
NM_000492.4(CFTR):c.2544A>T (p.Thr848=)
|
rs751242146
|
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.266A>G (p.Tyr89Cys)
|
rs397508418
|
0.00001
|
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)
|
rs766181463
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.2691T>C (p.His897=)
|
rs1792257064
|
0.00001
|
NM_000492.4(CFTR):c.2708A>G (p.Tyr903Cys)
|
rs147297080
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.273+1G>A
|
rs121908791
|
0.00001
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
NM_000492.4(CFTR):c.274-13T>C
|
rs1021474992
|
0.00001
|
NM_000492.4(CFTR):c.2742T>C (p.Tyr914=)
|
rs769879940
|
0.00001
|
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu)
|
rs770502501
|
0.00001
|
NM_000492.4(CFTR):c.2751C>T (p.Tyr917=)
|
rs1274886789
|
0.00001
|
NM_000492.4(CFTR):c.2757C>T (p.Tyr919=)
|
rs1408746819
|
0.00001
|
NM_000492.4(CFTR):c.2766A>G (p.Val922=)
|
rs762906556
|
0.00001
|
NM_000492.4(CFTR):c.2778G>T (p.Leu926Phe)
|
rs767910302
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.27C>T (p.Ala9=)
|
rs1255831708
|
0.00001
|
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)
|
rs397508438
|
0.00001
|
NM_000492.4(CFTR):c.2810dup (p.Val938fs)
|
rs193922510
|
0.00001
|
NM_000492.4(CFTR):c.281C>T (p.Thr94Ile)
|
rs767204327
|
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.2909G>A (p.Gly970Asp)
|
rs386134230
|
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.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.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val)
|
rs755472768
|
0.00001
|
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val)
|
rs1562916044
|
0.00001
|
NM_000492.4(CFTR):c.3441A>G (p.Val1147=)
|
rs375687401
|
0.00001
|
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)
|
rs397508565
|
0.00001
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
NM_000492.4(CFTR):c.3488T>G (p.Val1163Gly)
|
rs776696255
|
0.00001
|
NM_000492.4(CFTR):c.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.3659del (p.Thr1220fs)
|
rs121908811
|
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.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.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.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.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.3873G>C (p.Gln1291His)
|
rs121909015
|
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.3969G>A (p.Gly1323=)
|
rs886061952
|
0.00001
|
NM_000492.4(CFTR):c.3988C>G (p.Gln1330Glu)
|
rs375661578
|
0.00001
|
NM_000492.4(CFTR):c.4033G>A (p.Val1345Ile)
|
rs1371379517
|
0.00001
|
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln)
|
rs1313341594
|
0.00001
|
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr)
|
rs955306189
|
0.00001
|
NM_000492.4(CFTR):c.406C>T (p.Leu136=)
|
rs1351515691
|
0.00001
|
NM_000492.4(CFTR):c.4087A>C (p.Lys1363Gln)
|
rs1060503166
|
0.00001
|
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=)
|
rs759891255
|
0.00001
|
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)
|
rs397508673
|
0.00001
|
NM_000492.4(CFTR):c.4107T>C (p.Leu1369=)
|
rs772750690
|
0.00001
|
NM_000492.4(CFTR):c.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.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.4225G>A (p.Glu1409Lys)
|
rs397508699
|
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.530T>C (p.Ile177Thr)
|
rs397508747
|
0.00001
|
NM_000492.4(CFTR):c.537A>G (p.Gln179=)
|
rs991635265
|
0.00001
|
NM_000492.4(CFTR):c.538C>G (p.Leu180Val)
|
rs374163420
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
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.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser)
|
rs397508772
|
0.00001
|
NM_000492.4(CFTR):c.640C>T (p.Leu214=)
|
rs188457893
|
0.00001
|
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys)
|
rs397508776
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.70T>G (p.Leu24Val)
|
rs1056986309
|
0.00001
|
NM_000492.4(CFTR):c.720A>G (p.Leu240=)
|
rs1344097861
|
0.00001
|
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)
|
rs758012554
|
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.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.869+14A>G
|
rs1554380834
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_000492.4(CFTR):c.8G>T (p.Arg3Met)
|
rs1052894635
|
0.00001
|
NM_000492.4(CFTR):c.900C>A (p.Ala300=)
|
rs146652541
|
0.00001
|
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)
|
rs148013312
|
0.00001
|
NM_000492.4(CFTR):c.927C>G (p.Ala309=)
|
rs1800084
|
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.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
NM_000492.4(CFTR):c.972C>G (p.Pro324=)
|
rs1799834
|
0.00001
|
NM_000492.4(CFTR):c.978A>G (p.Ala326=)
|
rs757622174
|
0.00001
|
NM_000492.4(CFTR):c.979C>T (p.Leu327=)
|
rs1360839108
|
0.00001
|
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg)
|
rs141115171
|
0.00001
|
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn)
|
rs397508825
|
0.00001
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
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.2909_2924dup
|
|
|
NM_000492.3:c.54_273del
|
|
|
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.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1014C>A (p.Thr338=)
|
|
|
NM_000492.4(CFTR):c.1016C>G (p.Thr339Ser)
|
|
|
NM_000492.4(CFTR):c.1017C>T (p.Thr339=)
|
rs1359708278
|
|
NM_000492.4(CFTR):c.1018A>G (p.Ile340Val)
|
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1028G>T (p.Cys343Phe)
|
|
|
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
NM_000492.4(CFTR):c.1035T>C (p.Val345=)
|
|
|
NM_000492.4(CFTR):c.1038G>A (p.Leu346=)
|
rs2116684331
|
|
NM_000492.4(CFTR):c.1039C>A (p.Arg347Ser)
|
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1043T>C (p.Met348Thr)
|
|
|
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)
|
rs1562892293
|
|
NM_000492.4(CFTR):c.1047G>T (p.Ala349=)
|
rs200520623
|
|
NM_000492.4(CFTR):c.1050C>T (p.Val350=)
|
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1058A>G (p.Gln353Arg)
|
|
|
NM_000492.4(CFTR):c.1059A>G (p.Gln353=)
|
rs1800087
|
|
NM_000492.4(CFTR):c.1060T>C (p.Phe354Leu)
|
|
|
NM_000492.4(CFTR):c.1071T>C (p.Ala357=)
|
|
|
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
|
|
|
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)
|
rs76879328
|
|
NM_000492.4(CFTR):c.1077A>G (p.Gln359=)
|
rs761324191
|
|
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys)
|
rs75053309
|
|
NM_000492.4(CFTR):c.1079C>T (p.Thr360Ile)
|
|
|
NM_000492.4(CFTR):c.1080A>G (p.Thr360=)
|
rs201246833
|
|
NM_000492.4(CFTR):c.1084T>C (p.Tyr362His)
|
|
|
NM_000492.4(CFTR):c.1084T>G (p.Tyr362Asp)
|
|
|
NM_000492.4(CFTR):c.1085A>G (p.Tyr362Cys)
|
|
|
NM_000492.4(CFTR):c.108C>T (p.Asp36=)
|
|
|
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
|
|
|
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro)
|
rs76727851
|
|
NM_000492.4(CFTR):c.1095T>A (p.Leu365=)
|
|
|
NM_000492.4(CFTR):c.1098A>T (p.Gly366=)
|
|
|
NM_000492.4(CFTR):c.1099G>A (p.Ala367Thr)
|
|
|
NM_000492.4(CFTR):c.109A>C (p.Ile37Leu)
|
|
|
NM_000492.4(CFTR):c.110T>C (p.Ile37Thr)
|
|
|
NM_000492.4(CFTR):c.1113A>G (p.Ile371Met)
|
|
|
NM_000492.4(CFTR):c.1115A>T (p.Gln372Leu)
|
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1117-17C>T
|
|
|
NM_000492.4(CFTR):c.1117G>T (p.Asp373Tyr)
|
|
|
NM_000492.4(CFTR):c.1118A>T (p.Asp373Val)
|
|
|
NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
|
|
|
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)
|
rs397508163
|
|
NM_000492.4(CFTR):c.1131G>A (p.Lys377=)
|
|
|
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter)
|
rs2115882158
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1136A>G (p.Glu379Gly)
|
|
|
NM_000492.4(CFTR):c.1137A>G (p.Glu379=)
|
|
|
NM_000492.4(CFTR):c.113A>G (p.Tyr38Cys)
|
|
|
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)
|
rs1554381605
|
|
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
|
|
|
NM_000492.4(CFTR):c.1146A>C (p.Thr382=)
|
|
|
NM_000492.4(CFTR):c.1146A>T (p.Thr382=)
|
|
|
NM_000492.4(CFTR):c.114C>T (p.Tyr38=)
|
|
|
NM_000492.4(CFTR):c.1150G>A (p.Glu384Lys)
|
|
|
NM_000492.4(CFTR):c.1152A>G (p.Glu384=)
|
|
|
NM_000492.4(CFTR):c.1154A>G (p.Tyr385Cys)
|
rs1799062053
|
|
NM_000492.4(CFTR):c.1155T>C (p.Tyr385=)
|
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
NM_000492.4(CFTR):c.1158C>T (p.Asn386=)
|
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
NM_000492.4(CFTR):c.1161A>C (p.Leu387Phe)
|
|
|
NM_000492.4(CFTR):c.1161A>G (p.Leu387=)
|
rs1799062301
|
|
NM_000492.4(CFTR):c.1164G>T (p.Thr388=)
|
rs1800088
|
|
NM_000492.4(CFTR):c.1165A>T (p.Thr389Ser)
|
|
|
NM_000492.4(CFTR):c.1166C>T (p.Thr389Ile)
|
|
|
NM_000492.4(CFTR):c.1170A>G (p.Thr390=)
|
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1176A>G (p.Val392=)
|
rs542860881
|
|
NM_000492.4(CFTR):c.1177G>A (p.Val393Met)
|
|
|
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu)
|
rs1562892874
|
|
NM_000492.4(CFTR):c.117A>T (p.Gln39His)
|
rs764522674
|
|
NM_000492.4(CFTR):c.1185G>A (p.Glu395=)
|
|
|
NM_000492.4(CFTR):c.1189G>C (p.Val397Leu)
|
rs1225700054
|
|
NM_000492.4(CFTR):c.1191A>T (p.Val397=)
|
|
|
NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys)
|
|
|
NM_000492.4(CFTR):c.1193C>T (p.Thr398Ile)
|
|
|
NM_000492.4(CFTR):c.1196C>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.1201T>C (p.Trp401Arg)
|
|
|
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter)
|
rs397508175
|
|
NM_000492.4(CFTR):c.1209+1G>A
|
rs397508176
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
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_1210-10insGT
|
rs1584793368
|
|
NM_000492.4(CFTR):c.1210-11_1210-10insGTG
|
|
|
NM_000492.4(CFTR):c.1210-11_1210-10insGTGT
|
|
|
NM_000492.4(CFTR):c.1210-11_1210-9delinsG
|
rs2115902456
|
|
NM_000492.4(CFTR):c.1210-11delinsGTG
|
rs1584793368
|
|
NM_000492.4(CFTR):c.1210-11delinsGTGTG
|
|
|
NM_000492.4(CFTR):c.1210-13_1210-11del
|
rs2115902247
|
|
NM_000492.4(CFTR):c.1210-13_1210-11dup
|
|
|
NM_000492.4(CFTR):c.1210-13_1210-8del
|
rs1399483116
|
|
NM_000492.4(CFTR):c.1210-15_1210-10del
|
rs2115902212
|
|
NM_000492.4(CFTR):c.1210-15_1210-13delinsT
|
rs1584793324
|
|
NM_000492.4(CFTR):c.1210-15_1210-13delinsTT
|
|
|
NM_000492.4(CFTR):c.1210-15_1210-13delinsTTT
|
|
|
NM_000492.4(CFTR):c.1210-17_1210-13delinsTTT
|
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
NM_000492.4(CFTR):c.1210-34TG[10]
|
rs3832534
|
|
NM_000492.4(CFTR):c.1210-5A>G
|
|
|
NM_000492.4(CFTR):c.1210-6T>A
|
rs763339686
|
|
NM_000492.4(CFTR):c.1210-6dup
|
rs1805177
|
|
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val)
|
rs1324302547
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1212A>T (p.Gly404=)
|
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
NM_000492.4(CFTR):c.1221A>G (p.Glu407=)
|
rs2115902714
|
|
NM_000492.4(CFTR):c.122C>G (p.Pro41Arg)
|
|
|
NM_000492.4(CFTR):c.1234G>T (p.Ala412Ser)
|
|
|
NM_000492.4(CFTR):c.1234del (p.Ala412fs)
|
rs397508181
|
|
NM_000492.4(CFTR):c.123T>C (p.Pro41=)
|
rs1798379857
|
|
NM_000492.4(CFTR):c.1240C>A (p.Gln414Lys)
|
|
|
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)
|
rs397508183
|
|
NM_000492.4(CFTR):c.1245C>T (p.Asn415=)
|
|
|
NM_000492.4(CFTR):c.1248T>C (p.Asn416=)
|
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
NM_000492.4(CFTR):c.1255A>G (p.Arg419Gly)
|
|
|
NM_000492.4(CFTR):c.1263T>C (p.Thr421=)
|
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000492.4(CFTR):c.1269T>A (p.Asn423Lys)
|
rs376039579
|
|
NM_000492.4(CFTR):c.1269T>C (p.Asn423=)
|
rs376039579
|
|
NM_000492.4(CFTR):c.1272T>C (p.Gly424=)
|
rs2115903186
|
|
NM_000492.4(CFTR):c.1275T>C (p.Asp425=)
|
rs1562895009
|
|
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)
|
rs2896225
|
|
NM_000492.4(CFTR):c.1282C>A (p.Leu428Ile)
|
|
|
NM_000492.4(CFTR):c.1284C>G (p.Leu428=)
|
|
|
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
|
|
|
NM_000492.4(CFTR):c.1291A>C (p.Ser431Arg)
|
|
|
NM_000492.4(CFTR):c.1295A>G (p.Asn432Ser)
|
|
|
NM_000492.4(CFTR):c.1296T>C (p.Asn432=)
|
|
|
NM_000492.4(CFTR):c.1299C>T (p.Phe433=)
|
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1302A>G (p.Ser434=)
|
|
|
NM_000492.4(CFTR):c.1305T>C (p.Leu435=)
|
|
|
NM_000492.4(CFTR):c.1309G>T (p.Gly437Cys)
|
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
NM_000492.4(CFTR):c.1317T>C (p.Pro439=)
|
rs1562895052
|
|
NM_000492.4(CFTR):c.1317T>G (p.Pro439=)
|
rs1562895052
|
|
NM_000492.4(CFTR):c.1319_1323del (p.Val440fs)
|
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1332T>C (p.Ile444=)
|
|
|
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met)
|
rs1799214404
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val)
|
rs1584793570
|
|
NM_000492.4(CFTR):c.1347A>T (p.Glu449Asp)
|
|
|
NM_000492.4(CFTR):c.1348A>G (p.Arg450Gly)
|
|
|
NM_000492.4(CFTR):c.1349G>T (p.Arg450Ile)
|
|
|
NM_000492.4(CFTR):c.1353A>G (p.Gly451=)
|
rs1220983447
|
|
NM_000492.4(CFTR):c.1355A>C (p.Gln452Pro)
|
rs397508193
|
|
NM_000492.4(CFTR):c.1356G>A (p.Gln452=)
|
|
|
NM_000492.4(CFTR):c.1359G>A (p.Leu453=)
|
|
|
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.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.136G>A (p.Ala46Thr)
|
rs1584774381
|
|
NM_000492.4(CFTR):c.1370C>T (p.Ala457Val)
|
|
|
NM_000492.4(CFTR):c.1371T>C (p.Ala457=)
|
|
|
NM_000492.4(CFTR):c.1376C>T (p.Ser459Phe)
|
|
|
NM_000492.4(CFTR):c.1386A>G (p.Ala462=)
|
|
|
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
|
|
|
NM_000492.4(CFTR):c.1392+19A>G
|
|
|
NM_000492.4(CFTR):c.1392+1G>A
|
rs397508197
|
|
NM_000492.4(CFTR):c.1392G>A (p.Lys464=)
|
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1393-3C>A
|
|
|
NM_000492.4(CFTR):c.1395T>C (p.Thr465=)
|
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1401T>C (p.Leu467=)
|
|
|
NM_000492.4(CFTR):c.1402C>T (p.Leu468=)
|
|
|
NM_000492.4(CFTR):c.1405A>T (p.Met469Leu)
|
|
|
NM_000492.4(CFTR):c.1414A>G (p.Met472Val)
|
|
|
NM_000492.4(CFTR):c.1418del (p.Gly473fs)
|
rs397508205
|
|
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)
|
rs756206533
|
|
NM_000492.4(CFTR):c.1422A>G (p.Glu474=)
|
rs1222883922
|
|
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.1431T>C (p.Pro477=)
|
|
|
NM_000492.4(CFTR):c.1433C>T (p.Ser478Leu)
|
|
|
NM_000492.4(CFTR):c.1434A>C (p.Ser478=)
|
|
|
NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter)
|
rs397508207
|
|
NM_000492.4(CFTR):c.1437G>A (p.Glu479=)
|
rs754152822
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1439G>T (p.Gly480Val)
|
|
|
NM_000492.4(CFTR):c.1446dup (p.Lys483Ter)
|
rs397508209
|
|
NM_000492.4(CFTR):c.1449G>A (p.Lys483=)
|
|
|
NM_000492.4(CFTR):c.1451A>G (p.His484Arg)
|
rs1427892651
|
|
NM_000492.4(CFTR):c.1458A>G (p.Gly486=)
|
|
|
NM_000492.4(CFTR):c.1464T>C (p.Ile488=)
|
rs1799419575
|
|
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.1478A>T (p.Gln493Leu)
|
|
|
NM_000492.4(CFTR):c.1479G>A (p.Gln493=)
|
|
|
NM_000492.4(CFTR):c.1480T>G (p.Phe494Val)
|
|
|
NM_000492.4(CFTR):c.1484C>A (p.Ser495Tyr)
|
|
|
NM_000492.4(CFTR):c.1484C>G (p.Ser495Cys)
|
|
|
NM_000492.4(CFTR):c.1484C>T (p.Ser495Phe)
|
|
|
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)
|
rs397508216
|
|
NM_000492.4(CFTR):c.1492A>G (p.Met498Val)
|
rs1562898400
|
|
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1500C>G (p.Gly500=)
|
|
|
NM_000492.4(CFTR):c.1507A>G (p.Lys503Glu)
|
|
|
NM_000492.4(CFTR):c.1509A>G (p.Lys503=)
|
|
|
NM_000492.4(CFTR):c.150T>G (p.Ser50=)
|
rs2116635296
|
|
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)
|
rs397508223
|
|
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.1524T>C (p.Phe508=)
|
|
|
NM_000492.4(CFTR):c.1528G>A (p.Val510Ile)
|
|
|
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.1540G>T (p.Glu514Ter)
|
rs1799425190
|
|
NM_000492.4(CFTR):c.1541A>C (p.Glu514Ala)
|
|
|
NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)
|
|
|
NM_000492.4(CFTR):c.1542A>C (p.Glu514Asp)
|
|
|
NM_000492.4(CFTR):c.1543T>G (p.Tyr515Asp)
|
|
|
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)
|
rs121908776
|
|
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)
|
rs397508226
|
|
NM_000492.4(CFTR):c.1547G>T (p.Arg516Ile)
|
|
|
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
|
|
|
NM_000492.4(CFTR):c.1551C>T (p.Tyr517=)
|
|
|
NM_000492.4(CFTR):c.1557C>G (p.Ser519Arg)
|
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
NM_000492.4(CFTR):c.155A>T (p.Lys52Ile)
|
|
|
NM_000492.4(CFTR):c.1560C>T (p.Val520=)
|
rs768151081
|
|
NM_000492.4(CFTR):c.1561A>C (p.Ile521Leu)
|
|
|
NM_000492.4(CFTR):c.1563C>G (p.Ile521Met)
|
|
|
NM_000492.4(CFTR):c.156dup (p.Leu53fs)
|
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)
|
rs397508227
|
|
NM_000492.4(CFTR):c.1573del (p.Gln525fs)
|
rs774433839
|
|
NM_000492.4(CFTR):c.1577T>C (p.Leu526Pro)
|
|
|
NM_000492.4(CFTR):c.157T>C (p.Leu53=)
|
|
|
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
|
|
|
NM_000492.4(CFTR):c.1584+13G>A
|
|
|
NM_000492.4(CFTR):c.1584+5G>C
|
|
|
NM_000492.4(CFTR):c.161A>G (p.Glu54Gly)
|
|
|
NM_000492.4(CFTR):c.163A>G (p.Arg55Gly)
|
|
|
NM_000492.4(CFTR):c.164+10T>C
|
rs1310634696
|
|
NM_000492.4(CFTR):c.164+10delinsATGA
|
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+2T>A
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+3A>G
|
|
|
NM_000492.4(CFTR):c.164+5G>C
|
rs2116635341
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
NM_000492.4(CFTR):c.1680-19A>C
|
|
|
NM_000492.4(CFTR):c.1680-1G>C
|
rs121908794
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)
|
|
|
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr)
|
rs1226880376
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1685T>C (p.Val562Ala)
|
rs1792006361
|
|
NM_000492.4(CFTR):c.1686A>G (p.Val562=)
|
|
|
NM_000492.4(CFTR):c.1690A>G (p.Lys564Glu)
|
|
|
NM_000492.4(CFTR):c.1692del (p.Asp565fs)
|
rs193922505
|
|
NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp)
|
rs1375786834
|
|
NM_000492.4(CFTR):c.1699G>A (p.Asp567Asn)
|
|
|
NM_000492.4(CFTR):c.16C>T (p.Leu6=)
|
rs1554373095
|
|
NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala)
|
rs1562907186
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe)
|
rs397508275
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1719T>A (p.Ser573=)
|
|
|
NM_000492.4(CFTR):c.1732C>T (p.Leu578=)
|
rs979121392
|
|
NM_000492.4(CFTR):c.1735G>A (p.Asp579Asn)
|
|
|
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.1742dup (p.Leu581fs)
|
rs397508290
|
|
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)
|
rs397508292
|
|
NM_000492.4(CFTR):c.1746A>C (p.Thr582=)
|
rs751058333
|
|
NM_000492.4(CFTR):c.1759T>A (p.Phe587Ile)
|
|
|
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.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>T
|
rs397508298
|
|
NM_000492.4(CFTR):c.1766+79T>A
|
|
|
NM_000492.4(CFTR):c.1766+80T>A
|
|
|
NM_000492.4(CFTR):c.1766+80T>C
|
|
|
NM_000492.4(CFTR):c.1766+81T>A
|
|
|
NM_000492.4(CFTR):c.1766+82A>T
|
|
|
NM_000492.4(CFTR):c.1773C>T (p.Val591=)
|
|
|
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro)
|
rs1554389245
|
|
NM_000492.4(CFTR):c.1789A>G (p.Asn597Asp)
|
|
|
NM_000492.4(CFTR):c.1797T>C (p.Thr599=)
|
|
|
NM_000492.4(CFTR):c.1801A>G (p.Ile601Val)
|
|
|
NM_000492.4(CFTR):c.1804T>C (p.Leu602=)
|
rs1380798382
|
|
NM_000492.4(CFTR):c.1806G>T (p.Leu602Phe)
|
|
|
NM_000492.4(CFTR):c.1807del (p.Val603fs)
|
|
|
NM_000492.4(CFTR):c.1821G>A (p.Met607Ile)
|
|
|
NM_000492.4(CFTR):c.1824A>G (p.Glu608=)
|
rs2116030297
|
|
NM_000492.4(CFTR):c.1828T>C (p.Leu610=)
|
|
|
NM_000492.4(CFTR):c.1844A>G (p.Lys615Arg)
|
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1870A>T (p.Ser624Cys)
|
|
|
NM_000492.4(CFTR):c.1881T>C (p.Tyr627=)
|
|
|
NM_000492.4(CFTR):c.1888T>C (p.Phe630Leu)
|
|
|
NM_000492.4(CFTR):c.1890T>C (p.Phe630=)
|
|
|
NM_000492.4(CFTR):c.1891dup (p.Ser631fs)
|
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
NM_000492.4(CFTR):c.1899C>T (p.Leu633=)
|
|
|
NM_000492.4(CFTR):c.1902A>C (p.Gln634His)
|
|
|
NM_000492.4(CFTR):c.1902A>G (p.Gln634=)
|
rs2116030586
|
|
NM_000492.4(CFTR):c.1905T>A (p.Asn635Lys)
|
|
|
NM_000492.4(CFTR):c.1905T>C (p.Asn635=)
|
|
|
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys)
|
rs397508320
|
|
NM_000492.4(CFTR):c.1915G>C (p.Asp639His)
|
|
|
NM_000492.4(CFTR):c.1927A>C (p.Lys643Gln)
|
|
|
NM_000492.4(CFTR):c.1932C>T (p.Leu644=)
|
|
|
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr)
|
rs377731410
|
|
NM_000492.4(CFTR):c.1935G>A (p.Met645Ile)
|
|
|
NM_000492.4(CFTR):c.1937del (p.Gly646fs)
|
|
|
NM_000492.4(CFTR):c.1938A>G (p.Gly646=)
|
|
|
NM_000492.4(CFTR):c.1939T>A (p.Cys647Ser)
|
|
|
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.1955A>C (p.Gln652Pro)
|
|
|
NM_000492.4(CFTR):c.1960A>T (p.Ser654Cys)
|
rs1800099
|
|
NM_000492.4(CFTR):c.1962T>C (p.Ser654=)
|
rs1792036042
|
|
NM_000492.4(CFTR):c.1962T>G (p.Ser654Arg)
|
|
|
NM_000492.4(CFTR):c.1964C>T (p.Ala655Val)
|
|
|
NM_000492.4(CFTR):c.1966G>C (p.Glu656Gln)
|
|
|
NM_000492.4(CFTR):c.1967A>G (p.Glu656Gly)
|
|
|
NM_000492.4(CFTR):c.1970G>A (p.Arg657Lys)
|
|
|
NM_000492.4(CFTR):c.1974A>G (p.Arg658=)
|
rs2116031024
|
|
NM_000492.4(CFTR):c.1976del (p.Asn659fs)
|
rs121908809
|
|
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs)
|
rs397508325
|
|
NM_000492.4(CFTR):c.198T>C (p.Asn66=)
|
|
|
NM_000492.4(CFTR):c.1990G>C (p.Glu664Gln)
|
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
NM_000492.4(CFTR):c.1999C>T (p.His667Tyr)
|
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
NM_000492.4(CFTR):c.2003G>A (p.Arg668His)
|
|
|
NM_000492.4(CFTR):c.2007C>T (p.Phe669=)
|
rs958140362
|
|
NM_000492.4(CFTR):c.2009C>T (p.Ser670Leu)
|
|
|
NM_000492.4(CFTR):c.2010A>C (p.Ser670=)
|
|
|
NM_000492.4(CFTR):c.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>T (p.Gly673Ter)
|
rs397508331
|
|
NM_000492.4(CFTR):c.2019A>G (p.Gly673=)
|
rs2116031424
|
|
NM_000492.4(CFTR):c.2020G>T (p.Asp674Tyr)
|
|
|
NM_000492.4(CFTR):c.2022T>C (p.Asp674=)
|
rs1259091056
|
|
NM_000492.4(CFTR):c.2025T>G (p.Ala675=)
|
|
|
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)
|
rs762888022
|
|
NM_000492.4(CFTR):c.2026C>T (p.Pro676Ser)
|
|
|
NM_000492.4(CFTR):c.2033C>T (p.Ser678Phe)
|
|
|
NM_000492.4(CFTR):c.2035T>C (p.Trp679Arg)
|
|
|
NM_000492.4(CFTR):c.2045C>A (p.Thr682Lys)
|
|
|
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)
|
rs121908799
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2054A>C (p.Gln685Pro)
|
|
|
NM_000492.4(CFTR):c.2058T>C (p.Ser686=)
|
|
|
NM_000492.4(CFTR):c.2066A>C (p.Gln689Pro)
|
|
|
NM_000492.4(CFTR):c.2067G>A (p.Gln689=)
|
|
|
NM_000492.4(CFTR):c.2070T>C (p.Thr690=)
|
|
|
NM_000492.4(CFTR):c.2075A>T (p.Glu692Val)
|
|
|
NM_000492.4(CFTR):c.2076G>A (p.Glu692=)
|
|
|
NM_000492.4(CFTR):c.2082G>A (p.Gly694=)
|
rs1584812453
|
|
NM_000492.4(CFTR):c.2082G>C (p.Gly694=)
|
|
|
NM_000492.4(CFTR):c.2089del (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.208A>G (p.Ile70Val)
|
|
|
NM_000492.4(CFTR):c.2094G>A (p.Lys698=)
|
|
|
NM_000492.4(CFTR):c.2096A>T (p.Asn699Ile)
|
|
|
NM_000492.4(CFTR):c.2098T>C (p.Ser700Pro)
|
|
|
NM_000492.4(CFTR):c.2099C>A (p.Ser700Tyr)
|
|
|
NM_000492.4(CFTR):c.2106C>G (p.Leu702=)
|
rs1800102
|
|
NM_000492.4(CFTR):c.2107A>G (p.Asn703Asp)
|
|
|
NM_000492.4(CFTR):c.2108A>C (p.Asn703Thr)
|
|
|
NM_000492.4(CFTR):c.2115C>T (p.Ile705=)
|
|
|
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
|
|
|
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly)
|
rs121908760
|
|
NM_000492.4(CFTR):c.2127A>G (p.Arg709=)
|
rs2116032010
|
|
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)
|
rs75115087
|
|
NM_000492.4(CFTR):c.2136C>T (p.Ser712=)
|
|
|
NM_000492.4(CFTR):c.2137A>G (p.Ile713Val)
|
|
|
NM_000492.4(CFTR):c.2143C>G (p.Gln715Glu)
|
|
|
NM_000492.4(CFTR):c.2145A>G (p.Gln715=)
|
|
|
NM_000492.4(CFTR):c.2151T>C (p.Thr717=)
|
|
|
NM_000492.4(CFTR):c.2152C>T (p.Pro718Ser)
|
|
|
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter)
|
rs397508346
|
|
NM_000492.4(CFTR):c.215C>G (p.Ala72Gly)
|
|
|
NM_000492.4(CFTR):c.2166T>A (p.Asn722Lys)
|
|
|
NM_000492.4(CFTR):c.2166T>C (p.Asn722=)
|
|
|
NM_000492.4(CFTR):c.216C>G (p.Ala72=)
|
|
|
NM_000492.4(CFTR):c.216C>T (p.Ala72=)
|
rs1033366496
|
|
NM_000492.4(CFTR):c.2170A>C (p.Ile724Leu)
|
|
|
NM_000492.4(CFTR):c.2171T>C (p.Ile724Thr)
|
|
|
NM_000492.4(CFTR):c.2172C>A (p.Ile724=)
|
|
|
NM_000492.4(CFTR):c.2172C>T (p.Ile724=)
|
rs368599862
|
|
NM_000492.4(CFTR):c.2179G>T (p.Asp727Tyr)
|
|
|
NM_000492.4(CFTR):c.2183C>T (p.Ser728Phe)
|
rs1584812535
|
|
NM_000492.4(CFTR):c.2185G>C (p.Asp729His)
|
|
|
NM_000492.4(CFTR):c.2186A>C (p.Asp729Ala)
|
|
|
NM_000492.4(CFTR):c.2187T>C (p.Asp729=)
|
|
|
NM_000492.4(CFTR):c.2189A>C (p.Glu730Ala)
|
|
|
NM_000492.4(CFTR):c.2190G>A (p.Glu730=)
|
|
|
NM_000492.4(CFTR):c.2192C>G (p.Pro731Arg)
|
|
|
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
|
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2200A>G (p.Arg734Gly)
|
|
|
NM_000492.4(CFTR):c.2202A>G (p.Arg734=)
|
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.2205G>C (p.Arg735Ser)
|
rs2116032368
|
|
NM_000492.4(CFTR):c.2208G>A (p.Leu736=)
|
|
|
NM_000492.4(CFTR):c.220C>A (p.Arg74=)
|
|
|
NM_000492.4(CFTR):c.2211C>T (p.Ser737=)
|
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2217A>G (p.Val739=)
|
|
|
NM_000492.4(CFTR):c.2229G>A (p.Glu743=)
|
|
|
NM_000492.4(CFTR):c.2231A>G (p.Gln744Arg)
|
|
|
NM_000492.4(CFTR):c.2235A>G (p.Gly745=)
|
|
|
NM_000492.4(CFTR):c.2238G>C (p.Glu746Asp)
|
|
|
NM_000492.4(CFTR):c.2240C>A (p.Ala747Glu)
|
|
|
NM_000492.4(CFTR):c.2248C>A (p.Pro750Thr)
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2254A>C (p.Ile752Leu)
|
|
|
NM_000492.4(CFTR):c.2254A>T (p.Ile752Phe)
|
|
|
NM_000492.4(CFTR):c.2262G>T (p.Val754=)
|
|
|
NM_000492.4(CFTR):c.2267G>T (p.Ser756Ile)
|
|
|
NM_000492.4(CFTR):c.226T>A (p.Cys76Ser)
|
rs757959325
|
|
NM_000492.4(CFTR):c.2270C>G (p.Thr757Ser)
|
|
|
NM_000492.4(CFTR):c.2270C>T (p.Thr757Ile)
|
|
|
NM_000492.4(CFTR):c.2275C>A (p.Pro759Thr)
|
|
|
NM_000492.4(CFTR):c.2278A>G (p.Thr760Ala)
|
|
|
NM_000492.4(CFTR):c.2281C>A (p.Leu761Ile)
|
|
|
NM_000492.4(CFTR):c.2283T>G (p.Leu761=)
|
|
|
NM_000492.4(CFTR):c.2286G>A (p.Gln762=)
|
|
|
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr)
|
rs2116032836
|
|
NM_000492.4(CFTR):c.2287G>T (p.Ala763Ser)
|
|
|
NM_000492.4(CFTR):c.2288C>G (p.Ala763Gly)
|
|
|
NM_000492.4(CFTR):c.2289A>G (p.Ala763=)
|
rs1792046083
|
|
NM_000492.4(CFTR):c.228T>C (p.Cys76=)
|
rs777536750
|
|
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp)
|
rs777536750
|
|
NM_000492.4(CFTR):c.2290C>A (p.Arg764=)
|
|
|
NM_000492.4(CFTR):c.2293A>G (p.Arg765Gly)
|
|
|
NM_000492.4(CFTR):c.2294G>A (p.Arg765Lys)
|
|
|
NM_000492.4(CFTR):c.2295G>A (p.Arg765=)
|
|
|
NM_000492.4(CFTR):c.2297G>C (p.Arg766Thr)
|
|
|
NM_000492.4(CFTR):c.2307C>G (p.Val769=)
|
rs1241371944
|
|
NM_000492.4(CFTR):c.2310G>T (p.Leu770=)
|
|
|
NM_000492.4(CFTR):c.2312A>G (p.Asn771Ser)
|
|
|
NM_000492.4(CFTR):c.2313C>T (p.Asn771=)
|
rs768301278
|
|
NM_000492.4(CFTR):c.2328A>G (p.Ser776=)
|
rs2116033048
|
|
NM_000492.4(CFTR):c.2337del (p.Gly780fs)
|
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2341C>G (p.Gln781Glu)
|
|
|
NM_000492.4(CFTR):c.2342A>G (p.Gln781Arg)
|
|
|
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
|
|
|
NM_000492.4(CFTR):c.2348T>G (p.Ile783Ser)
|
|
|
NM_000492.4(CFTR):c.234C>T (p.Phe78=)
|
|
|
NM_000492.4(CFTR):c.2350C>G (p.His784Asp)
|
|
|
NM_000492.4(CFTR):c.2353C>G (p.Arg785Gly)
|
|
|
NM_000492.4(CFTR):c.2354G>T (p.Arg785Leu)
|
|
|
NM_000492.4(CFTR):c.2360C>A (p.Thr787Lys)
|
rs2116033185
|
|
NM_000492.4(CFTR):c.2374C>A (p.Arg792=)
|
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.2379A>T (p.Lys793Asn)
|
|
|
NM_000492.4(CFTR):c.2381T>A (p.Val794Glu)
|
|
|
NM_000492.4(CFTR):c.2387T>A (p.Leu796Gln)
|
|
|
NM_000492.4(CFTR):c.2389G>T (p.Ala797Ser)
|
|
|
NM_000492.4(CFTR):c.2393C>G (p.Pro798Arg)
|
|
|
NM_000492.4(CFTR):c.2395C>A (p.Gln799Lys)
|
|
|
NM_000492.4(CFTR):c.2397G>A (p.Gln799=)
|
|
|
NM_000492.4(CFTR):c.2399C>A (p.Ala800Glu)
|
|
|
NM_000492.4(CFTR):c.239G>C (p.Arg80Thr)
|
|
|
NM_000492.4(CFTR):c.2402A>T (p.Asn801Ile)
|
|
|
NM_000492.4(CFTR):c.2404T>G (p.Leu802Val)
|
|
|
NM_000492.4(CFTR):c.2418T>A (p.Asp806Glu)
|
|
|
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs)
|
rs387906359
|
|
NM_000492.4(CFTR):c.2427A>T (p.Ser809=)
|
|
|
NM_000492.4(CFTR):c.2430A>T (p.Arg810Ser)
|
|
|
NM_000492.4(CFTR):c.2434T>C (p.Leu812=)
|
|
|
NM_000492.4(CFTR):c.2436A>G (p.Leu812=)
|
|
|
NM_000492.4(CFTR):c.2439T>C (p.Ser813=)
|
rs2116033726
|
|
NM_000492.4(CFTR):c.2446A>C (p.Thr816Pro)
|
|
|
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
|
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
NM_000492.4(CFTR):c.2454G>A (p.Leu818=)
|
|
|
NM_000492.4(CFTR):c.2458A>C (p.Ile820Leu)
|
|
|
NM_000492.4(CFTR):c.2458A>G (p.Ile820Val)
|
|
|
NM_000492.4(CFTR):c.2462G>A (p.Ser821Asn)
|
|
|
NM_000492.4(CFTR):c.2470A>G (p.Ile824Val)
|
|
|
NM_000492.4(CFTR):c.2472T>C (p.Ile824=)
|
|
|
NM_000492.4(CFTR):c.2472T>G (p.Ile824Met)
|
|
|
NM_000492.4(CFTR):c.2472del (p.Asn825fs)
|
rs397508380
|
|
NM_000492.4(CFTR):c.2474A>G (p.Asn825Ser)
|
rs1398481391
|
|
NM_000492.4(CFTR):c.2490+11A>G
|
rs1482271794
|
|
NM_000492.4(CFTR):c.2490+1G>A
|
rs141158996
|
|
NM_000492.4(CFTR):c.2490+4_2490+7del
|
|
|
NM_000492.4(CFTR):c.2496C>T (p.Cys832=)
|
rs397508388
|
|
NM_000492.4(CFTR):c.24G>A (p.Lys8=)
|
rs1800071
|
|
NM_000492.4(CFTR):c.2503G>T (p.Asp835Tyr)
|
|
|
NM_000492.4(CFTR):c.2515A>G (p.Ser839Gly)
|
|
|
NM_000492.4(CFTR):c.251A>G (p.Tyr84Cys)
|
|
|
NM_000492.4(CFTR):c.2528T>A (p.Val843Glu)
|
|
|
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile)
|
rs1792097477
|
|
NM_000492.4(CFTR):c.2532T>G (p.Thr844=)
|
|
|
NM_000492.4(CFTR):c.2533A>C (p.Thr845Pro)
|
|
|
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
|
|
|
NM_000492.4(CFTR):c.2543C>G (p.Thr848Arg)
|
|
|
NM_000492.4(CFTR):c.2547C>T (p.Tyr849=)
|
rs397508394
|
|
NM_000492.4(CFTR):c.2549T>G (p.Leu850Arg)
|
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2555del (p.Tyr852fs)
|
|
|
NM_000492.4(CFTR):c.2556T>C (p.Tyr852=)
|
|
|
NM_000492.4(CFTR):c.2561C>T (p.Thr854Ile)
|
|
|
NM_000492.4(CFTR):c.2562T>A (p.Thr854=)
|
|
|
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)
|
rs1584813846
|
|
NM_000492.4(CFTR):c.2570A>G (p.Lys857Arg)
|
rs1584813860
|
|
NM_000492.4(CFTR):c.2571G>A (p.Lys857=)
|
rs397508398
|
|
NM_000492.4(CFTR):c.2574C>T (p.Ser858=)
|
rs2116039690
|
|
NM_000492.4(CFTR):c.2578A>G (p.Ile860Val)
|
|
|
NM_000492.4(CFTR):c.2579T>C (p.Ile860Thr)
|
|
|
NM_000492.4(CFTR):c.2584G>A (p.Val862Met)
|
|
|
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
|
|
|
NM_000492.4(CFTR):c.2589A>G (p.Leu863=)
|
|
|
NM_000492.4(CFTR):c.258C>T (p.Ile86=)
|
|
|
NM_000492.4(CFTR):c.2598C>G (p.Cys866Trp)
|
|
|
NM_000492.4(CFTR):c.2601dup (p.Val868fs)
|
rs397508405
|
|
NM_000492.4(CFTR):c.2605A>G (p.Ile869Val)
|
|
|
NM_000492.4(CFTR):c.2605del (p.Ile869fs)
|
|
|
NM_000492.4(CFTR):c.2605dup (p.Ile869fs)
|
|
|
NM_000492.4(CFTR):c.2606T>G (p.Ile869Ser)
|
|
|
NM_000492.4(CFTR):c.2614G>A (p.Ala872Thr)
|
rs2116039854
|
|
NM_000492.4(CFTR):c.2617G>A (p.Glu873Lys)
|
|
|
NM_000492.4(CFTR):c.2619+3A>G
|
rs397508408
|
|
NM_000492.4(CFTR):c.2620-12G>A
|
|
|
NM_000492.4(CFTR):c.2620-12G>T
|
|
|
NM_000492.4(CFTR):c.2620-2A>G
|
rs1554390859
|
|
NM_000492.4(CFTR):c.2620-80G>A
|
|
|
NM_000492.4(CFTR):c.2620-80G>T
|
|
|
NM_000492.4(CFTR):c.2620-81T>G
|
|
|
NM_000492.4(CFTR):c.2620-82G>T
|
|
|
NM_000492.4(CFTR):c.2620G>A (p.Val874Met)
|
|
|
NM_000492.4(CFTR):c.2624C>T (p.Ala875Val)
|
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2632T>C (p.Leu878=)
|
rs2116059306
|
|
NM_000492.4(CFTR):c.2634G>C (p.Leu878Phe)
|
|
|
NM_000492.4(CFTR):c.2636T>C (p.Val879Ala)
|
|
|
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.2641C>T (p.Leu881=)
|
rs2116059368
|
|
NM_000492.4(CFTR):c.2642T>C (p.Leu881Pro)
|
|
|
NM_000492.4(CFTR):c.264A>G (p.Leu88=)
|
|
|
NM_000492.4(CFTR):c.2657+19A>G
|
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
NM_000492.4(CFTR):c.2673C>T (p.Asp891=)
|
|
|
NM_000492.4(CFTR):c.2677G>A (p.Gly893Arg)
|
|
|
NM_000492.4(CFTR):c.2681A>C (p.Asn894Thr)
|
|
|
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
|
|
|
NM_000492.4(CFTR):c.2683A>G (p.Ser895Gly)
|
rs1792256745
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2687_2690delinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer)
|
rs397508420
|
|
NM_000492.4(CFTR):c.2689C>T (p.His897Tyr)
|
|
|
NM_000492.4(CFTR):c.2694T>C (p.Ser898=)
|
rs2116061252
|
|
NM_000492.4(CFTR):c.2695A>G (p.Arg899Gly)
|
|
|
NM_000492.4(CFTR):c.2700T>C (p.Asn900=)
|
|
|
NM_000492.4(CFTR):c.2702A>T (p.Asn901Ile)
|
|
|
NM_000492.4(CFTR):c.2706C>T (p.Ser902=)
|
|
|
NM_000492.4(CFTR):c.2717T>A (p.Ile906Asn)
|
|
|
NM_000492.4(CFTR):c.2720T>A (p.Ile907Asn)
|
|
|
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
|
|
|
NM_000492.4(CFTR):c.2729C>G (p.Thr910Ser)
|
|
|
NM_000492.4(CFTR):c.273+11C>T
|
|
|
NM_000492.4(CFTR):c.273+13T>C
|
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
NM_000492.4(CFTR):c.2730C>G (p.Thr910=)
|
|
|
NM_000492.4(CFTR):c.2733T>C (p.Ser911=)
|
|
|
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.274-5T>A
|
rs1454461758
|
|
NM_000492.4(CFTR):c.274-9C>A
|
|
|
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.2752A>C (p.Ile918Leu)
|
|
|
NM_000492.4(CFTR):c.2752A>T (p.Ile918Phe)
|
rs1267646551
|
|
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn)
|
rs1033530699
|
|
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter)
|
rs1408746819
|
|
NM_000492.4(CFTR):c.2758G>C (p.Val920Leu)
|
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu)
|
rs193922508
|
|
NM_000492.4(CFTR):c.2762G>T (p.Gly921Val)
|
rs193922508
|
|
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs)
|
rs397508431
|
|
NM_000492.4(CFTR):c.2764G>C (p.Val922Leu)
|
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
NM_000492.4(CFTR):c.2770G>C (p.Asp924His)
|
rs201759207
|
|
NM_000492.4(CFTR):c.2773A>G (p.Thr925Ala)
|
rs1423162478
|
|
NM_000492.4(CFTR):c.2774C>A (p.Thr925Asn)
|
|
|
NM_000492.4(CFTR):c.2774C>G (p.Thr925Ser)
|
|
|
NM_000492.4(CFTR):c.2774C>T (p.Thr925Ile)
|
|
|
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
|
rs397508435
|
|
NM_000492.4(CFTR):c.2787G>A (p.Met929Ile)
|
|
|
NM_000492.4(CFTR):c.278T>A (p.Val93Asp)
|
|
|
NM_000492.4(CFTR):c.2790A>C (p.Gly930=)
|
|
|
NM_000492.4(CFTR):c.2790A>G (p.Gly930=)
|
|
|
NM_000492.4(CFTR):c.2793C>T (p.Phe931=)
|
|
|
NM_000492.4(CFTR):c.279C>T (p.Val93=)
|
|
|
NM_000492.4(CFTR):c.2806C>T (p.Pro936Ser)
|
|
|
NM_000492.4(CFTR):c.2807C>T (p.Pro936Leu)
|
|
|
NM_000492.4(CFTR):c.2809C>G (p.Leu937Val)
|
|
|
NM_000492.4(CFTR):c.2810T>C (p.Leu937Pro)
|
|
|
NM_000492.4(CFTR):c.2811G>T (p.Leu937=)
|
|
|
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu)
|
rs749784731
|
|
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu)
|
rs749784731
|
|
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)
|
rs397508440
|
|
NM_000492.4(CFTR):c.2819C>T (p.Thr940Ile)
|
|
|
NM_000492.4(CFTR):c.2826C>T (p.Ile942=)
|
|
|
NM_000492.4(CFTR):c.282C>G (p.Thr94=)
|
|
|
NM_000492.4(CFTR):c.2830G>C (p.Val944Leu)
|
|
|
NM_000492.4(CFTR):c.2835G>T (p.Ser945=)
|
rs193922513
|
|
NM_000492.4(CFTR):c.2836A>C (p.Lys946Gln)
|
|
|
NM_000492.4(CFTR):c.2840T>C (p.Ile947Thr)
|
|
|
NM_000492.4(CFTR):c.2844A>C (p.Leu948Phe)
|
|
|
NM_000492.4(CFTR):c.2848C>T (p.His950Tyr)
|
|
|
NM_000492.4(CFTR):c.2850C>T (p.His950=)
|
|
|
NM_000492.4(CFTR):c.2854A>G (p.Met952Val)
|
|
|
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)
|
rs151048781
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2861A>G (p.His954Arg)
|
|
|
NM_000492.4(CFTR):c.2863T>G (p.Ser955Ala)
|
rs1584817978
|
|
NM_000492.4(CFTR):c.2880T>C (p.Pro960=)
|
|
|
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
|
|
|
NM_000492.4(CFTR):c.2885C>A (p.Ser962Ter)
|
|
|
NM_000492.4(CFTR):c.2889C>T (p.Thr963=)
|
|
|
NM_000492.4(CFTR):c.288A>C (p.Ala96=)
|
|
|
NM_000492.4(CFTR):c.2890C>T (p.Leu964Phe)
|
|
|
NM_000492.4(CFTR):c.2894A>G (p.Asn965Ser)
|
|
|
NM_000492.4(CFTR):c.2895C>T (p.Asn965=)
|
|
|
NM_000492.4(CFTR):c.2896del (p.Thr966fs)
|
rs397508451
|
|
NM_000492.4(CFTR):c.2906C>G (p.Ala969Gly)
|
|
|
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+14T>G
|
rs2116062569
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2909-11G>A
|
|
|
NM_000492.4(CFTR):c.2909-4A>G
|
rs397508457
|
|
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe)
|
rs397508459
|
|
NM_000492.4(CFTR):c.291A>G (p.Val97=)
|
|
|
NM_000492.4(CFTR):c.2928C>A (p.Phe976Leu)
|
|
|
NM_000492.4(CFTR):c.2933A>G (p.Lys978Arg)
|
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2937T>C (p.Asp979=)
|
rs1792305947
|
|
NM_000492.4(CFTR):c.2942C>A (p.Ala981Glu)
|
|
|
NM_000492.4(CFTR):c.2951A>T (p.Asp984Val)
|
|
|
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala)
|
rs1031657153
|
|
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu)
|
rs1792306616
|
|
NM_000492.4(CFTR):c.2970C>T (p.Thr990=)
|
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
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.298C>T (p.Leu100Phe)
|
|
|
NM_000492.4(CFTR):c.299T>A (p.Leu100His)
|
|
|
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)
|
rs762241850
|
|
NM_000492.4(CFTR):c.29G>C (p.Ser10Thr)
|
rs762241850
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.307G>A (p.Gly103Arg)
|
rs1584784895
|
|
NM_000492.4(CFTR):c.307G>T (p.Gly103Ter)
|
rs1584784895
|
|
NM_000492.4(CFTR):c.309A>G (p.Gly103=)
|
|
|
NM_000492.4(CFTR):c.30C>T (p.Ser10=)
|
rs1369001389
|
|
NM_000492.4(CFTR):c.310A>G (p.Arg104Gly)
|
|
|
NM_000492.4(CFTR):c.311G>C (p.Arg104Thr)
|
|
|
NM_000492.4(CFTR):c.312A>G (p.Arg104=)
|
rs2116670032
|
|
NM_000492.4(CFTR):c.316A>G (p.Ile106Val)
|
rs1024092547
|
|
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
|
|
|
NM_000492.4(CFTR):c.321T>A (p.Ala107=)
|
rs778204477
|
|
NM_000492.4(CFTR):c.321T>G (p.Ala107=)
|
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
|
|
|
NM_000492.4(CFTR):c.330C>T (p.Asp110=)
|
|
|
NM_000492.4(CFTR):c.3368-13del
|
|
|
NM_000492.4(CFTR):c.3368-19G>A
|
rs374104839
|
|
NM_000492.4(CFTR):c.3368-19G>C
|
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-4A>G
|
rs748811222
|
|
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)
|
rs397508548
|
|
NM_000492.4(CFTR):c.3372A>G (p.Glu1124=)
|
|
|
NM_000492.4(CFTR):c.3374G>A (p.Gly1125Glu)
|
|
|
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)
|
rs397508549
|
|
NM_000492.4(CFTR):c.3385G>A (p.Val1129Ile)
|
|
|
NM_000492.4(CFTR):c.3388G>A (p.Gly1130Ser)
|
|
|
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)
|
rs397508550
|
|
NM_000492.4(CFTR):c.3392T>C (p.Ile1131Thr)
|
|
|
NM_000492.4(CFTR):c.3401C>A (p.Thr1134Asn)
|
|
|
NM_000492.4(CFTR):c.3405A>G (p.Leu1135=)
|
|
|
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
|
|
|
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
|
|
|
NM_000492.4(CFTR):c.3413A>G (p.Asn1138Ser)
|
|
|
NM_000492.4(CFTR):c.3423T>C (p.Ser1141=)
|
|
|
NM_000492.4(CFTR):c.3426A>G (p.Thr1142=)
|
rs2116096536
|
|
NM_000492.4(CFTR):c.3427T>C (p.Leu1143=)
|
rs768276513
|
|
NM_000492.4(CFTR):c.3428T>C (p.Leu1143Ser)
|
|
|
NM_000492.4(CFTR):c.342G>A (p.Lys114=)
|
|
|
NM_000492.4(CFTR):c.342G>C (p.Lys114Asn)
|
|
|
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter)
|
rs397508560
|
|
NM_000492.4(CFTR):c.3432G>A (p.Gln1144=)
|
|
|
NM_000492.4(CFTR):c.3434G>A (p.Trp1145Ter)
|
|
|
NM_000492.4(CFTR):c.3437C>T (p.Ala1146Val)
|
|
|
NM_000492.4(CFTR):c.3447C>A (p.Ser1149=)
|
|
|
NM_000492.4(CFTR):c.3460G>A (p.Asp1154Asn)
|
rs397508568
|
|
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
|
|
|
NM_000492.4(CFTR):c.3469-11T>G
|
|
|
NM_000492.4(CFTR):c.3469-3C>A
|
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3472C>A (p.Arg1158=)
|
rs79850223
|
|
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)
|
rs397508572
|
|
NM_000492.4(CFTR):c.3480G>A (p.Val1160=)
|
rs1298788637
|
|
NM_000492.4(CFTR):c.3481A>G (p.Ser1161Gly)
|
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3487G>A (p.Val1163Ile)
|
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.3504C>T (p.Asp1168=)
|
|
|
NM_000492.4(CFTR):c.3505A>G (p.Met1169Val)
|
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3513A>C (p.Thr1171=)
|
|
|
NM_000492.4(CFTR):c.3518G>A (p.Gly1173Asp)
|
|
|
NM_000492.4(CFTR):c.351C>T (p.Arg117=)
|
rs2116670233
|
|
NM_000492.4(CFTR):c.3523C>T (p.Pro1175Ser)
|
|
|
NM_000492.4(CFTR):c.3524C>T (p.Pro1175Leu)
|
|
|
NM_000492.4(CFTR):c.3527C>G (p.Thr1176Ser)
|
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3531G>A (p.Lys1177=)
|
|
|
NM_000492.4(CFTR):c.3532T>A (p.Ser1178Thr)
|
|
|
NM_000492.4(CFTR):c.3539_3554del (p.Lys1180fs)
|
|
|
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.354T>A (p.Ser118=)
|
|
|
NM_000492.4(CFTR):c.354T>C (p.Ser118=)
|
rs2116670246
|
|
NM_000492.4(CFTR):c.3552T>C (p.Asn1184=)
|
|
|
NM_000492.4(CFTR):c.3559C>A (p.Leu1187Ile)
|
|
|
NM_000492.4(CFTR):c.3559C>G (p.Leu1187Val)
|
|
|
NM_000492.4(CFTR):c.3559C>T (p.Leu1187Phe)
|
|
|
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu)
|
rs1036123285
|
|
NM_000492.4(CFTR):c.3568G>A (p.Val1190Ile)
|
|
|
NM_000492.4(CFTR):c.356T>A (p.Ile119Asn)
|
|
|
NM_000492.4(CFTR):c.356T>G (p.Ile119Ser)
|
|
|
NM_000492.4(CFTR):c.3573G>A (p.Met1191Ile)
|
rs1359962349
|
|
NM_000492.4(CFTR):c.3578T>C (p.Ile1193Thr)
|
|
|
NM_000492.4(CFTR):c.3585T>A (p.Asn1195Lys)
|
|
|
NM_000492.4(CFTR):c.3588A>G (p.Ser1196=)
|
|
|
NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln)
|
|
|
NM_000492.4(CFTR):c.359C>T (p.Ala120Val)
|
rs1265244783
|
|
NM_000492.4(CFTR):c.3600A>T (p.Lys1200Asn)
|
|
|
NM_000492.4(CFTR):c.3605A>G (p.Asp1202Gly)
|
|
|
NM_000492.4(CFTR):c.3606C>T (p.Asp1202=)
|
rs2116129667
|
|
NM_000492.4(CFTR):c.3609C>T (p.Ile1203=)
|
|
|
NM_000492.4(CFTR):c.360G>C (p.Ala120=)
|
|
|
NM_000492.4(CFTR):c.360G>T (p.Ala120=)
|
|
|
NM_000492.4(CFTR):c.3611G>T (p.Trp1204Leu)
|
|
|
NM_000492.4(CFTR):c.3614C>A (p.Pro1205His)
|
|
|
NM_000492.4(CFTR):c.3614C>G (p.Pro1205Arg)
|
|
|
NM_000492.4(CFTR):c.3615C>T (p.Pro1205=)
|
|
|
NM_000492.4(CFTR):c.3618A>T (p.Ser1206=)
|
|
|
NM_000492.4(CFTR):c.3621G>A (p.Gly1207=)
|
|
|
NM_000492.4(CFTR):c.3621G>T (p.Gly1207=)
|
|
|
NM_000492.4(CFTR):c.3623G>C (p.Gly1208Ala)
|
|
|
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu)
|
rs151264397
|
|
NM_000492.4(CFTR):c.3628A>T (p.Met1210Leu)
|
|
|
NM_000492.4(CFTR):c.3636C>G (p.Val1212=)
|
|
|
NM_000492.4(CFTR):c.3637A>G (p.Lys1213Glu)
|
|
|
NM_000492.4(CFTR):c.3641A>G (p.Asp1214Gly)
|
|
|
NM_000492.4(CFTR):c.3641A>T (p.Asp1214Val)
|
rs1792675407
|
|
NM_000492.4(CFTR):c.3648A>T (p.Thr1216=)
|
|
|
NM_000492.4(CFTR):c.3666T>C (p.Gly1222=)
|
|
|
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)
|
rs79660178
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=)
|
rs139322772
|
|
NM_000492.4(CFTR):c.3688A>G (p.Ile1230Val)
|
|
|
NM_000492.4(CFTR):c.3690T>C (p.Ile1230=)
|
|
|
NM_000492.4(CFTR):c.3697T>C (p.Ser1233Pro)
|
|
|
NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs)
|
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3706C>G (p.Pro1236Ala)
|
|
|
NM_000492.4(CFTR):c.3711C>G (p.Gly1237=)
|
|
|
NM_000492.4(CFTR):c.3717+14A>G
|
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3718-15A>C
|
|
|
NM_000492.4(CFTR):c.3718-1G>A
|
rs387906369
|
|
NM_000492.4(CFTR):c.3718-3T>C
|
|
|
NM_000492.4(CFTR):c.3718G>T (p.Val1240Leu)
|
|
|
NM_000492.4(CFTR):c.371G>A (p.Gly124Asp)
|
|
|
NM_000492.4(CFTR):c.3721G>A (p.Gly1241Ser)
|
|
|
NM_000492.4(CFTR):c.3722G>A (p.Gly1241Asp)
|
|
|
NM_000492.4(CFTR):c.3724C>T (p.Leu1242Phe)
|
|
|
NM_000492.4(CFTR):c.3726C>G (p.Leu1242=)
|
rs758818517
|
|
NM_000492.4(CFTR):c.3727T>C (p.Leu1243=)
|
rs1392953776
|
|
NM_000492.4(CFTR):c.3728T>G (p.Leu1243Trp)
|
|
|
NM_000492.4(CFTR):c.372C>T (p.Gly124=)
|
rs1060503162
|
|
NM_000492.4(CFTR):c.3738T>C (p.Thr1246=)
|
|
|
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg)
|
rs397508601
|
|
NM_000492.4(CFTR):c.3740G>T (p.Gly1247Val)
|
|
|
NM_000492.4(CFTR):c.3741A>G (p.Gly1247=)
|
|
|
NM_000492.4(CFTR):c.3747G>A (p.Gly1249=)
|
rs794727373
|
|
NM_000492.4(CFTR):c.3747del (p.Lys1250fs)
|
rs797045159
|
|
NM_000492.4(CFTR):c.3759G>T (p.Leu1253Phe)
|
|
|
NM_000492.4(CFTR):c.375A>G (p.Ile125Met)
|
|
|
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)
|
rs397508604
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3772T>C (p.Leu1258=)
|
rs202074317
|
|
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)
|
rs121908789
|
|
NM_000492.4(CFTR):c.3779T>C (p.Leu1260Pro)
|
|
|
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala)
|
rs397508609
|
|
NM_000492.4(CFTR):c.3782T>G (p.Leu1261Arg)
|
|
|
NM_000492.4(CFTR):c.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.3792A>G (p.Glu1264=)
|
|
|
NM_000492.4(CFTR):c.3795del (p.Glu1266fs)
|
|
|
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_000492.4(CFTR):c.379T>C (p.Leu127=)
|
rs2116670348
|
|
NM_000492.4(CFTR):c.3800T>A (p.Ile1267Asn)
|
|
|
NM_000492.4(CFTR):c.3801C>A (p.Ile1267=)
|
|
|
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.3811G>A (p.Gly1271Ser)
|
|
|
NM_000492.4(CFTR):c.3815T>G (p.Val1272Gly)
|
|
|
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs)
|
rs397508612
|
|
NM_000492.4(CFTR):c.3819T>G (p.Ser1273=)
|
|
|
NM_000492.4(CFTR):c.3824A>G (p.Asp1275Gly)
|
|
|
NM_000492.4(CFTR):c.3828A>T (p.Ser1276=)
|
|
|
NM_000492.4(CFTR):c.3829A>G (p.Ile1277Val)
|
|
|
NM_000492.4(CFTR):c.3837G>T (p.Leu1279Phe)
|
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3842A>C (p.Gln1281Pro)
|
|
|
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)
|
rs397508616
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3848G>A (p.Arg1283Lys)
|
rs77902683
|
|
NM_000492.4(CFTR):c.3849G>A (p.Arg1283=)
|
|
|
NM_000492.4(CFTR):c.3854C>G (p.Ala1285Gly)
|
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys)
|
rs121909028
|
|
NM_000492.4(CFTR):c.3862G>A (p.Val1288Met)
|
|
|
NM_000492.4(CFTR):c.3869C>T (p.Pro1290Leu)
|
|
|
NM_000492.4(CFTR):c.386T>C (p.Leu129Pro)
|
|
|
NM_000492.4(CFTR):c.386T>G (p.Leu129Arg)
|
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3873+5G>A
|
|
|
NM_000492.4(CFTR):c.3874-27TTC[2]
|
rs397508623
|
|
NM_000492.4(CFTR):c.387T>C (p.Leu129=)
|
|
|
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs)
|
rs387906373
|
|
NM_000492.4(CFTR):c.3883del (p.Ile1295fs)
|
rs397508630
|
|
NM_000492.4(CFTR):c.3887T>C (p.Phe1296Ser)
|
|
|
NM_000492.4(CFTR):c.388C>G (p.Leu130Val)
|
rs397508632
|
|
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr)
|
rs397508636
|
|
NM_000492.4(CFTR):c.3909C>T (p.Asn1303=)
|
|
|
NM_000492.4(CFTR):c.3910T>C (p.Leu1304=)
|
rs1478450897
|
|
NM_000492.4(CFTR):c.3910T>G (p.Leu1304Val)
|
|
|
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu)
|
rs397508640
|
|
NM_000492.4(CFTR):c.3917C>A (p.Pro1306His)
|
|
|
NM_000492.4(CFTR):c.3918C>T (p.Pro1306=)
|
rs1800132
|
|
NM_000492.4(CFTR):c.391T>C (p.Phe131Leu)
|
|
|
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)
|
rs1793109904
|
|
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)
|
rs121909026
|
|
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala)
|
rs397508648
|
|
NM_000492.4(CFTR):c.3953T>G (p.Val1318Gly)
|
|
|
NM_000492.4(CFTR):c.3958G>A (p.Asp1320Asn)
|
|
|
NM_000492.4(CFTR):c.3958G>C (p.Asp1320His)
|
|
|
NM_000492.4(CFTR):c.3960T>C (p.Asp1320=)
|
rs2116195757
|
|
NM_000492.4(CFTR):c.3963+1G>C
|
rs672601314
|
|
NM_000492.4(CFTR):c.3963+1G>T
|
|
|
NM_000492.4(CFTR):c.3963+5G>C
|
|
|
NM_000492.4(CFTR):c.3963G>A (p.Glu1321=)
|
|
|
NM_000492.4(CFTR):c.3964-10C>T
|
|
|
NM_000492.4(CFTR):c.3964-18del
|
|
|
NM_000492.4(CFTR):c.3964G>A (p.Val1322Ile)
|
|
|
NM_000492.4(CFTR):c.396T>C (p.Ile132=)
|
|
|
NM_000492.4(CFTR):c.3972C>T (p.Leu1324=)
|
|
|
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser)
|
rs1793339514
|
|
NM_000492.4(CFTR):c.3978T>C (p.Ser1326=)
|
|
|
NM_000492.4(CFTR):c.3980T>C (p.Val1327Ala)
|
|
|
NM_000492.4(CFTR):c.3984A>G (p.Ile1328Met)
|
|
|
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)
|
rs375661578
|
|
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.39C>T (p.Ser13=)
|
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4007A>C (p.Asp1336Ala)
|
|
|
NM_000492.4(CFTR):c.4009T>A (p.Phe1337Ile)
|
|
|
NM_000492.4(CFTR):c.400A>C (p.Arg134=)
|
|
|
NM_000492.4(CFTR):c.4011T>C (p.Phe1337=)
|
|
|
NM_000492.4(CFTR):c.4019T>A (p.Val1340Glu)
|
|
|
NM_000492.4(CFTR):c.4020G>A (p.Val1340=)
|
|
|
NM_000492.4(CFTR):c.4024G>A (p.Gly1342Arg)
|
|
|
NM_000492.4(CFTR):c.4025G>T (p.Gly1342Val)
|
|
|
NM_000492.4(CFTR):c.4026G>A (p.Gly1342=)
|
|
|
NM_000492.4(CFTR):c.4026G>C (p.Gly1342=)
|
rs1584848821
|
|
NM_000492.4(CFTR):c.4034T>C (p.Val1345Ala)
|
|
|
NM_000492.4(CFTR):c.4035C>A (p.Val1345=)
|
rs2116220979
|
|
NM_000492.4(CFTR):c.4036dup (p.Leu1346fs)
|
|
|
NM_000492.4(CFTR):c.4037T>C (p.Leu1346Pro)
|
|
|
NM_000492.4(CFTR):c.4040G>A (p.Ser1347Asn)
|
|
|
NM_000492.4(CFTR):c.4042C>A (p.His1348Asn)
|
|
|
NM_000492.4(CFTR):c.4047C>A (p.Gly1349=)
|
|
|
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu)
|
rs397508666
|
|
NM_000492.4(CFTR):c.4053G>A (p.Lys1351=)
|
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
NM_000492.4(CFTR):c.4053_4054delinsAG (p.Gln1352Glu)
|
rs2116221100
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4057T>C (p.Leu1353=)
|
|
|
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer)
|
rs1562928927
|
|
NM_000492.4(CFTR):c.405A>G (p.Thr135=)
|
|
|
NM_000492.4(CFTR):c.4063T>G (p.Cys1355Gly)
|
|
|
NM_000492.4(CFTR):c.4067T>C (p.Leu1356Ser)
|
|
|
NM_000492.4(CFTR):c.4076C>A (p.Ser1359Tyr)
|
|
|
NM_000492.4(CFTR):c.4076C>G (p.Ser1359Cys)
|
|
|
NM_000492.4(CFTR):c.4077T>C (p.Ser1359=)
|
rs1449323479
|
|
NM_000492.4(CFTR):c.4077T>G (p.Ser1359=)
|
rs1449323479
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
NM_000492.4(CFTR):c.4078G>A (p.Val1360Ile)
|
|
|
NM_000492.4(CFTR):c.4081C>G (p.Leu1361Val)
|
rs772157232
|
|
NM_000492.4(CFTR):c.4088A>G (p.Lys1363Arg)
|
|
|
NM_000492.4(CFTR):c.408G>C (p.Leu136=)
|
|
|
NM_000492.4(CFTR):c.4093A>G (p.Lys1365Glu)
|
|
|
NM_000492.4(CFTR):c.4096A>G (p.Ile1366Val)
|
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4098C>T (p.Ile1366=)
|
|
|
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
|
|
|
NM_000492.4(CFTR):c.4100T>C (p.Leu1367Ser)
|
|
|
NM_000492.4(CFTR):c.4108G>C (p.Asp1370His)
|
|
|
NM_000492.4(CFTR):c.4110T>A (p.Asp1370Glu)
|
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
NM_000492.4(CFTR):c.4114C>A (p.Pro1372Thr)
|
rs397508676
|
|
NM_000492.4(CFTR):c.4114C>T (p.Pro1372Ser)
|
|
|
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=)
|
rs1793345960
|
|
NM_000492.4(CFTR):c.4118G>T (p.Ser1373Ile)
|
rs587780313
|
|
NM_000492.4(CFTR):c.411C>T (p.Leu137=)
|
|
|
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly)
|
rs115147093
|
|
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn)
|
rs150683293
|
|
NM_000492.4(CFTR):c.4136+3G>A
|
rs1584849002
|
|
NM_000492.4(CFTR):c.4136+6T>A
|
rs969884170
|
|
NM_000492.4(CFTR):c.4137-12T>C
|
|
|
NM_000492.4(CFTR):c.4139C>T (p.Thr1380Ile)
|
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His)
|
rs397508682
|
|
NM_000492.4(CFTR):c.4142A>C (p.Tyr1381Ser)
|
|
|
NM_000492.4(CFTR):c.4144C>A (p.Gln1382Lys)
|
|
|
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)
|
rs397508684
|
|
NM_000492.4(CFTR):c.4147A>T (p.Ile1383Leu)
|
|
|
NM_000492.4(CFTR):c.4151T>C (p.Ile1384Thr)
|
rs1584849296
|
|
NM_000492.4(CFTR):c.4152T>C (p.Ile1384=)
|
|
|
NM_000492.4(CFTR):c.415C>T (p.His139Tyr)
|
|
|
NM_000492.4(CFTR):c.4161T>C (p.Thr1387=)
|
|
|
NM_000492.4(CFTR):c.4162C>G (p.Leu1388Val)
|
rs1554397584
|
|
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro)
|
rs397508688
|
|
NM_000492.4(CFTR):c.4164A>G (p.Leu1388=)
|
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4173A>T (p.Ala1391=)
|
|
|
NM_000492.4(CFTR):c.4183T>C (p.Cys1395Arg)
|
|
|
NM_000492.4(CFTR):c.4187C>T (p.Thr1396Ile)
|
|
|
NM_000492.4(CFTR):c.4188A>G (p.Thr1396=)
|
rs1322987429
|
|
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
|
|
|
NM_000492.4(CFTR):c.4194T>C (p.Ile1398=)
|
rs2116222791
|
|
NM_000492.4(CFTR):c.4195C>A (p.Leu1399Ile)
|
|
|
NM_000492.4(CFTR):c.4195C>G (p.Leu1399Val)
|
rs1562929162
|
|
NM_000492.4(CFTR):c.4197C>T (p.Leu1399=)
|
rs79688066
|
|
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer)
|
rs397508695
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
NM_000492.4(CFTR):c.4205A>G (p.His1402Arg)
|
|
|
NM_000492.4(CFTR):c.4208G>A (p.Arg1403Lys)
|
|
|
NM_000492.4(CFTR):c.4209G>T (p.Arg1403Ser)
|
|
|
NM_000492.4(CFTR):c.4218A>G (p.Ala1406=)
|
|
|
NM_000492.4(CFTR):c.4219A>G (p.Met1407Val)
|
|
|
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
|
|
|
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=)
|
rs1793360215
|
|
NM_000492.4(CFTR):c.4223T>C (p.Leu1408Pro)
|
|
|
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter)
|
rs397508701
|
|
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)
|
rs397508702
|
|
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=)
|
rs541737583
|
|
NM_000492.4(CFTR):c.4238T>G (p.Phe1413Cys)
|
|
|
NM_000492.4(CFTR):c.4242+20C>T
|
rs1229413013
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.425T>G (p.Ile142Ser)
|
|
|
NM_000492.4(CFTR):c.427T>G (p.Phe143Val)
|
|
|
NM_000492.4(CFTR):c.429del (p.Phe143fs)
|
rs387906364
|
|
NM_000492.4(CFTR):c.432C>T (p.Gly144=)
|
rs1431645851
|
|
NM_000492.4(CFTR):c.435TCA[1] (p.His147del)
|
|
|
NM_000492.4(CFTR):c.441C>T (p.His147=)
|
|
|
NM_000492.4(CFTR):c.443T>G (p.Ile148Ser)
|
|
|
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)
|
rs1562876459
|
|
NM_000492.4(CFTR):c.453G>A (p.Gln151=)
|
|
|
NM_000492.4(CFTR):c.466A>G (p.Met156Val)
|
|
|
NM_000492.4(CFTR):c.472A>T (p.Ser158Cys)
|
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.478A>G (p.Ile160Val)
|
|
|
NM_000492.4(CFTR):c.479T>C (p.Ile160Thr)
|
|
|
NM_000492.4(CFTR):c.488A>C (p.Lys163Thr)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.489+10C>G
|
rs1447914513
|
|
NM_000492.4(CFTR):c.490-1G>C
|
|
|
NM_000492.4(CFTR):c.490-9T>A
|
rs2116674841
|
|
NM_000492.4(CFTR):c.491C>T (p.Thr164Ile)
|
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn)
|
rs2116674891
|
|
NM_000492.4(CFTR):c.498del (p.Lys166fs)
|
|
|
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
|
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.504A>G (p.Ser168=)
|
|
|
NM_000492.4(CFTR):c.506G>A (p.Ser169Asn)
|
|
|
NM_000492.4(CFTR):c.508C>A (p.Arg170Ser)
|
rs578029902
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
NM_000492.4(CFTR):c.516A>G (p.Leu172=)
|
|
|
NM_000492.4(CFTR):c.521A>G (p.Lys174Arg)
|
|
|
NM_000492.4(CFTR):c.528T>C (p.Ser176=)
|
rs1798911676
|
|
NM_000492.4(CFTR):c.53+11G>A
|
|
|
NM_000492.4(CFTR):c.53+18C>A
|
|
|
NM_000492.4(CFTR):c.53+2T>C
|
|
|
NM_000492.4(CFTR):c.53+9G>T
|
rs745414764
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.539T>C (p.Leu180Pro)
|
|
|
NM_000492.4(CFTR):c.53G>T (p.Ser18Ile)
|
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
NM_000492.4(CFTR):c.548T>A (p.Leu183His)
|
|
|
NM_000492.4(CFTR):c.551_555del (p.Leu184fs)
|
|
|
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr)
|
rs1798913314
|
|
NM_000492.4(CFTR):c.555C>T (p.Ser185=)
|
|
|
NM_000492.4(CFTR):c.560A>G (p.Asn187Ser)
|
|
|
NM_000492.4(CFTR):c.561C>T (p.Asn187=)
|
rs397508754
|
|
NM_000492.4(CFTR):c.562C>A (p.Leu188Met)
|
|
|
NM_000492.4(CFTR):c.562C>T (p.Leu188=)
|
|
|
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)
|
rs397508755
|
|
NM_000492.4(CFTR):c.567C>T (p.Asn189=)
|
rs397508755
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
NM_000492.4(CFTR):c.579+4T>C
|
|
|
NM_000492.4(CFTR):c.579+8C>A
|
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)
|
rs376008630
|
|
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter)
|
rs376008630
|
|
NM_000492.4(CFTR):c.582A>T (p.Gly194=)
|
|
|
NM_000492.4(CFTR):c.586G>A (p.Ala196Thr)
|
|
|
NM_000492.4(CFTR):c.586G>C (p.Ala196Pro)
|
|
|
NM_000492.4(CFTR):c.587C>G (p.Ala196Gly)
|
|
|
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr)
|
rs193922529
|
|
NM_000492.4(CFTR):c.592G>T (p.Ala198Ser)
|
|
|
NM_000492.4(CFTR):c.594A>C (p.Ala198=)
|
rs1481956057
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NM_000492.4(CFTR):c.606G>A (p.Trp202Ter)
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rs397508768
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NM_000492.4(CFTR):c.60C>A (p.Thr20=)
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rs534609552
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NM_000492.4(CFTR):c.60C>T (p.Thr20=)
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NM_000492.4(CFTR):c.618G>A (p.Leu206=)
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NM_000492.4(CFTR):c.619C>A (p.Gln207Lys)
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NM_000492.4(CFTR):c.621A>G (p.Gln207=)
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NM_000492.4(CFTR):c.622G>A (p.Val208Met)
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NM_000492.4(CFTR):c.626C>T (p.Ala209Val)
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NM_000492.4(CFTR):c.628C>A (p.Leu210Ile)
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NM_000492.4(CFTR):c.630C>T (p.Leu210=)
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rs1584786975
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NM_000492.4(CFTR):c.635T>C (p.Met212Thr)
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NM_000492.4(CFTR):c.639G>A (p.Gly213=)
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NM_000492.4(CFTR):c.640C>G (p.Leu214Val)
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rs188457893
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NM_000492.4(CFTR):c.645C>T (p.Ile215=)
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NM_000492.4(CFTR):c.646T>C (p.Trp216Arg)
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rs1562890551
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NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)
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rs397508775
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NM_000492.4(CFTR):c.647G>C (p.Trp216Ser)
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NM_000492.4(CFTR):c.651G>A (p.Glu217=)
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rs1422913967
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NM_000492.4(CFTR):c.655T>C (p.Leu219=)
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NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
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rs397508778
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NM_000492.4(CFTR):c.661G>C (p.Ala221Pro)
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NM_000492.4(CFTR):c.662C>A (p.Ala221Glu)
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NM_000492.4(CFTR):c.662C>G (p.Ala221Gly)
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NM_000492.4(CFTR):c.663G>T (p.Ala221=)
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NM_000492.4(CFTR):c.667G>T (p.Ala223Ser)
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NM_000492.4(CFTR):c.670T>C (p.Phe224Leu)
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NM_000492.4(CFTR):c.670T>G (p.Phe224Val)
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NM_000492.4(CFTR):c.671T>C (p.Phe224Ser)
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NM_000492.4(CFTR):c.672C>T (p.Phe224=)
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NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
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rs397508781
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NM_000492.4(CFTR):c.675T>C (p.Cys225=)
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NM_000492.4(CFTR):c.676G>A (p.Gly226Arg)
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NM_000492.4(CFTR):c.682G>A (p.Gly228Ser)
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NM_000492.4(CFTR):c.683G>A (p.Gly228Asp)
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NM_000492.4(CFTR):c.688C>T (p.Leu230=)
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rs201410793
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NM_000492.4(CFTR):c.68T>C (p.Ile23Thr)
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NM_000492.4(CFTR):c.692T>G (p.Ile231Arg)
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NM_000492.4(CFTR):c.696C>A (p.Val232=)
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rs2116676736
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NM_000492.4(CFTR):c.696C>T (p.Val232=)
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NM_000492.4(CFTR):c.697C>T (p.Leu233Phe)
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rs775713428
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NM_000492.4(CFTR):c.700G>T (p.Ala234Ser)
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NM_000492.4(CFTR):c.703C>G (p.Leu235Val)
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NM_000492.4(CFTR):c.704T>A (p.Leu235His)
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NM_000492.4(CFTR):c.705T>C (p.Leu235=)
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NM_000492.4(CFTR):c.705T>G (p.Leu235=)
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rs762380161
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NM_000492.4(CFTR):c.707T>A (p.Phe236Tyr)
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NM_000492.4(CFTR):c.711G>C (p.Gln237His)
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rs397508785
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NM_000492.4(CFTR):c.712G>T (p.Ala238Ser)
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NM_000492.4(CFTR):c.716G>A (p.Gly239Glu)
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NM_000492.4(CFTR):c.717G>A (p.Gly239=)
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NM_000492.4(CFTR):c.717G>T (p.Gly239=)
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rs764661797
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NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
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NM_000492.4(CFTR):c.723G>A (p.Gly241=)
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NM_000492.4(CFTR):c.727A>G (p.Met243Val)
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NM_000492.4(CFTR):c.728T>C (p.Met243Thr)
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NM_000492.4(CFTR):c.729G>A (p.Met243Ile)
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NM_000492.4(CFTR):c.731T>C (p.Met244Thr)
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NM_000492.4(CFTR):c.736A>C (p.Lys246Gln)
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NM_000492.4(CFTR):c.743+11A>G
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NM_000492.4(CFTR):c.744-33GATT[5]
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rs1805171
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NM_000492.4(CFTR):c.744-33GATT[6]
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rs1805171
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NM_000492.4(CFTR):c.744-33GATT[8]
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rs1805171
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NM_000492.4(CFTR):c.744A>G (p.Arg248=)
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NM_000492.4(CFTR):c.754G>C (p.Ala252Pro)
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NM_000492.4(CFTR):c.754G>T (p.Ala252Ser)
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NM_000492.4(CFTR):c.756T>C (p.Ala252=)
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NM_000492.4(CFTR):c.757G>A (p.Gly253Arg)
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rs1343896905
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NM_000492.4(CFTR):c.765C>G (p.Ile255Met)
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NM_000492.4(CFTR):c.765C>T (p.Ile255=)
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rs1202176665
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NM_000492.4(CFTR):c.766A>G (p.Ser256Gly)
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rs773790621
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NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
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NM_000492.4(CFTR):c.770A>G (p.Glu257Gly)
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NM_000492.4(CFTR):c.772del (p.Arg258fs)
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NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
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NM_000492.4(CFTR):c.778G>A (p.Val260Met)
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rs1390016549
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NM_000492.4(CFTR):c.780G>C (p.Val260=)
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NM_000492.4(CFTR):c.782T>C (p.Ile261Thr)
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NM_000492.4(CFTR):c.789A>G (p.Ser263=)
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NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
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NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
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rs397508796
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NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)
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rs397508796
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NM_000492.4(CFTR):c.803del (p.Asn268fs)
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rs121908772
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NM_000492.4(CFTR):c.807C>T (p.Ile269=)
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NM_000492.4(CFTR):c.811del (p.Ser271fs)
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rs1554380789
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NM_000492.4(CFTR):c.818A>C (p.Lys273Thr)
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NM_000492.4(CFTR):c.819G>A (p.Lys273=)
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NM_000492.4(CFTR):c.822A>G (p.Ala274=)
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rs2116678695
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NM_000492.4(CFTR):c.825C>T (p.Tyr275=)
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NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
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rs397508799
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NM_000492.4(CFTR):c.830G>C (p.Trp277Ser)
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NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)
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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)
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rs786204693
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NM_000492.4(CFTR):c.854T>C (p.Ile285Thr)
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NM_000492.4(CFTR):c.85A>G (p.Arg29Gly)
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NM_000492.4(CFTR):c.860A>G (p.Asn287Ser)
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NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
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rs397508805
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NM_000492.4(CFTR):c.865A>G (p.Arg289Gly)
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NM_000492.4(CFTR):c.867A>G (p.Arg289=)
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rs1798963965
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NM_000492.4(CFTR):c.868C>G (p.Gln290Glu)
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NM_000492.4(CFTR):c.869+1G>C
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rs1330431481
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NM_000492.4(CFTR):c.869+3A>T
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rs1554380828
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NM_000492.4(CFTR):c.869+9T>C
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rs1798964448
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NM_000492.4(CFTR):c.870-1113_870-1110del
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rs397508809
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NM_000492.4(CFTR):c.870-7_870-5del
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rs759762840
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NM_000492.4(CFTR):c.874G>T (p.Glu292Ter)
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rs397508811
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NM_000492.4(CFTR):c.874_875del (p.Glu292fs)
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rs1799022949
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NM_000492.4(CFTR):c.876A>G (p.Glu292=)
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rs2116683514
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NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)
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rs397508815
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NM_000492.4(CFTR):c.891G>A (p.Arg297=)
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NM_000492.4(CFTR):c.896C>T (p.Ala299Val)
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NM_000492.4(CFTR):c.89A>C (p.Gln30Pro)
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NM_000492.4(CFTR):c.901T>C (p.Tyr301His)
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NM_000492.4(CFTR):c.905T>A (p.Val302Glu)
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NM_000492.4(CFTR):c.905T>C (p.Val302Ala)
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NM_000492.4(CFTR):c.906G>C (p.Val302=)
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rs2116683646
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NM_000492.4(CFTR):c.90G>A (p.Gln30=)
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NM_000492.4(CFTR):c.911A>C (p.Tyr304Ser)
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NM_000492.4(CFTR):c.914T>G (p.Phe305Cys)
|
rs1562892143
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NM_000492.4(CFTR):c.915C>G (p.Phe305Leu)
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NM_000492.4(CFTR):c.920G>T (p.Ser307Ile)
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NM_000492.4(CFTR):c.921C>T (p.Ser307=)
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NM_000492.4(CFTR):c.927C>T (p.Ala309=)
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rs1800084
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NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
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rs121908768
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NM_000492.4(CFTR):c.92G>A (p.Arg31His)
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rs149353983
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NM_000492.4(CFTR):c.930C>T (p.Phe310=)
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rs1230103075
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NM_000492.4(CFTR):c.932T>C (p.Phe311Ser)
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NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)
|
rs121909016
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NM_000492.4(CFTR):c.93C>T (p.Arg31=)
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NM_000492.4(CFTR):c.941G>C (p.Gly314Ala)
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rs75763344
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NM_000492.4(CFTR):c.947T>C (p.Phe316Ser)
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NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
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NM_000492.4(CFTR):c.949G>A (p.Val317Met)
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NM_000492.4(CFTR):c.950T>G (p.Val317Gly)
|
|
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NM_000492.4(CFTR):c.954G>A (p.Val318=)
|
rs766189605
|
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NM_000492.4(CFTR):c.959del (p.Leu320fs)
|
rs1584789267
|
|
NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
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NM_000492.4(CFTR):c.962C>G (p.Ser321Cys)
|
|
|
NM_000492.4(CFTR):c.966G>C (p.Val322=)
|
rs2116683990
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NM_000492.4(CFTR):c.969T>A (p.Leu323=)
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NM_000492.4(CFTR):c.96G>A (p.Leu32=)
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NM_000492.4(CFTR):c.976G>T (p.Ala326Ser)
|
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NM_000492.4(CFTR):c.977C>G (p.Ala326Gly)
|
|
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NM_000492.4(CFTR):c.977C>T (p.Ala326Val)
|
rs1584789296
|
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NM_000492.4(CFTR):c.978A>T (p.Ala326=)
|
|
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NM_000492.4(CFTR):c.979C>G (p.Leu327Val)
|
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NM_000492.4(CFTR):c.981A>T (p.Leu327=)
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NM_000492.4(CFTR):c.991A>T (p.Ile331Phe)
|
|
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NM_000492.4(CFTR):c.993C>T (p.Ile331=)
|
rs2116684106
|
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NM_000492.4(CFTR):c.996C>T (p.Ile332=)
|
|
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