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.1767-136T>C
|
rs11978434
|
0.20764
|
NM_000492.4(CFTR):c.2909-92G>A
|
rs35050470
|
0.16197
|
NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
NM_000492.4(CFTR):c.869+11C>T
|
rs1800503
|
0.07590
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_000492.4(CFTR):c.743+40A>G
|
rs1800502
|
0.03675
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
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.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
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.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.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000492.4(CFTR):c.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.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
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.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.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.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)
|
rs150691494
|
0.00019
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000492.4(CFTR):c.2424T>C (p.Tyr808=)
|
rs143954792
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
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.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)
|
rs142432539
|
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.806T>C (p.Ile269Thr)
|
rs201016820
|
0.00011
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val)
|
rs780187979
|
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.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.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met)
|
rs576710089
|
0.00008
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.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.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.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.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.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.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.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00005
|
NM_000492.4(CFTR):c.3521A>C (p.Lys1174Thr)
|
rs137875514
|
0.00005
|
NM_000492.4(CFTR):c.66A>G (p.Pro22=)
|
rs748899228
|
0.00005
|
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.1247A>G (p.Asn416Ser)
|
rs777850419
|
0.00004
|
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser)
|
rs139054556
|
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.2354G>A (p.Arg785Gln)
|
rs141880790
|
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.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.393T>C (p.Phe131=)
|
rs1039221071
|
0.00004
|
NM_000492.4(CFTR):c.4096A>T (p.Ile1366Phe)
|
rs770345073
|
0.00004
|
NM_000492.4(CFTR):c.454A>T (p.Met152Leu)
|
rs397508721
|
0.00004
|
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)
|
rs200885306
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
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.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.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.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.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.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu)
|
rs397508443
|
0.00003
|
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys)
|
rs779569793
|
0.00003
|
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)
|
rs373561883
|
0.00003
|
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met)
|
rs143120209
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
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.4003C>T (p.Leu1335Phe)
|
rs145545286
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.489+8T>G
|
rs727504712
|
0.00003
|
NM_000492.4(CFTR):c.511G>A (p.Val171Ile)
|
rs745468219
|
0.00003
|
NM_000492.4(CFTR):c.634A>G (p.Met212Val)
|
rs540269075
|
0.00003
|
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)
|
rs397508777
|
0.00003
|
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1186A>T (p.Asn396Tyr)
|
rs753143757
|
0.00002
|
NM_000492.4(CFTR):c.1199T>C (p.Phe400Ser)
|
rs1325574209
|
0.00002
|
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)
|
rs370586917
|
0.00002
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
0.00002
|
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys)
|
rs755986694
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.2241G>A (p.Ala747=)
|
rs146645194
|
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.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala)
|
rs761531223
|
0.00002
|
NM_000492.4(CFTR):c.2713G>C (p.Val905Leu)
|
rs886186687
|
0.00002
|
NM_000492.4(CFTR):c.274-1G>A
|
rs121908792
|
0.00002
|
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser)
|
rs185397588
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp)
|
rs751474685
|
0.00002
|
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)
|
rs200921635
|
0.00002
|
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu)
|
rs752834717
|
0.00002
|
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr)
|
rs115762793
|
0.00002
|
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser)
|
rs747324955
|
0.00002
|
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)
|
rs368427311
|
0.00002
|
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser)
|
rs201686600
|
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.62G>T (p.Arg21Ile)
|
rs777520137
|
0.00002
|
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)
|
rs759726535
|
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.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
NM_000492.4(CFTR):c.1081del (p.Trp361fs)
|
rs387906361
|
0.00001
|
NM_000492.4(CFTR):c.117A>C (p.Gln39His)
|
rs764522674
|
0.00001
|
NM_000492.4(CFTR):c.1209+6A>G
|
rs749054857
|
0.00001
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)
|
rs766063304
|
0.00001
|
NM_000492.4(CFTR):c.1258A>G (p.Lys420Glu)
|
rs377629509
|
0.00001
|
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp)
|
rs765791986
|
0.00001
|
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr)
|
rs748642635
|
0.00001
|
NM_000492.4(CFTR):c.1393-2A>G
|
rs397508201
|
0.00001
|
NM_000492.4(CFTR):c.1430C>A (p.Pro477His)
|
rs886044297
|
0.00001
|
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)
|
rs754152822
|
0.00001
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
NM_000492.4(CFTR):c.1504A>G (p.Ile502Val)
|
rs768243039
|
0.00001
|
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)
|
rs397508222
|
0.00001
|
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys)
|
rs1554384431
|
0.00001
|
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)
|
rs747504631
|
0.00001
|
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
|
NM_000492.4(CFTR):c.1584+1G>A
|
rs397508230
|
0.00001
|
NM_000492.4(CFTR):c.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.1732C>G (p.Leu578Val)
|
rs979121392
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser)
|
rs754945422
|
0.00001
|
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met)
|
rs1485998437
|
0.00001
|
NM_000492.4(CFTR):c.2112A>G (p.Pro704=)
|
rs926782023
|
0.00001
|
NM_000492.4(CFTR):c.2120C>G (p.Ser707Cys)
|
rs1395267446
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val)
|
rs200531709
|
0.00001
|
NM_000492.4(CFTR):c.2219C>T (p.Pro740Leu)
|
rs150772285
|
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.2255T>G (p.Ile752Ser)
|
rs766541549
|
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.2323C>T (p.His775Tyr)
|
rs748045283
|
0.00001
|
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu)
|
rs397508365
|
0.00001
|
NM_000492.4(CFTR):c.234dup (p.Trp79fs)
|
rs1189377616
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro)
|
rs1291965190
|
0.00001
|
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe)
|
rs1314080734
|
0.00001
|
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys)
|
rs1792049376
|
0.00001
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser)
|
rs778688276
|
0.00001
|
NM_000492.4(CFTR):c.2460A>T (p.Ile820=)
|
rs369664216
|
0.00001
|
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)
|
rs397508378
|
0.00001
|
NM_000492.4(CFTR):c.2469A>T (p.Glu823Asp)
|
rs777667933
|
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.2537G>A (p.Trp846Ter)
|
rs397508393
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.256A>G (p.Ile86Val)
|
rs749432776
|
0.00001
|
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)
|
rs1310658028
|
0.00001
|
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val)
|
rs1472821278
|
0.00001
|
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)
|
rs397508418
|
0.00001
|
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)
|
rs766181463
|
0.00001
|
NM_000492.4(CFTR):c.273+1G>A
|
rs121908791
|
0.00001
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu)
|
rs770502501
|
0.00001
|
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser)
|
rs750655055
|
0.00001
|
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr)
|
rs780528577
|
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.2929T>G (p.Ser977Ala)
|
rs137975784
|
0.00001
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
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.2973A>G (p.Ile991Met)
|
rs370181570
|
0.00001
|
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys)
|
rs397508469
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly)
|
rs770241677
|
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.3406G>A (p.Ala1136Thr)
|
rs755968404
|
0.00001
|
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val)
|
rs1562916044
|
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.3473G>A (p.Arg1158Gln)
|
rs763401376
|
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.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.3667G>A (p.Gly1223Arg)
|
rs1320914611
|
0.00001
|
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val)
|
rs770358073
|
0.00001
|
NM_000492.4(CFTR):c.3681A>G (p.Leu1227=)
|
rs943312470
|
0.00001
|
NM_000492.4(CFTR):c.3682G>C (p.Glu1228Gln)
|
rs759116351
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)
|
rs267606723
|
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.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.3895A>G (p.Thr1299Ala)
|
rs750604866
|
0.00001
|
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)
|
rs397508646
|
0.00001
|
NM_000492.4(CFTR):c.4028G>T (p.Gly1343Val)
|
rs773458471
|
0.00001
|
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr)
|
rs955306189
|
0.00001
|
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe)
|
rs755028771
|
0.00001
|
NM_000492.4(CFTR):c.4087A>C (p.Lys1363Gln)
|
rs1060503166
|
0.00001
|
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=)
|
rs759891255
|
0.00001
|
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)
|
rs397508673
|
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.4159A>G (p.Thr1387Ala)
|
rs1455404428
|
0.00001
|
NM_000492.4(CFTR):c.416A>C (p.His139Pro)
|
rs76371115
|
0.00001
|
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro)
|
rs375552160
|
0.00001
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly)
|
rs970498675
|
0.00001
|
NM_000492.4(CFTR):c.4230C>G (p.Cys1410Trp)
|
rs1165501753
|
0.00001
|
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu)
|
rs142092183
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.441C>G (p.His147Gln)
|
rs759310470
|
0.00001
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.489+5T>C
|
rs1453085631
|
0.00001
|
NM_000492.4(CFTR):c.514C>A (p.Leu172Ile)
|
rs769606990
|
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.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.662C>T (p.Ala221Val)
|
rs752432390
|
0.00001
|
NM_000492.4(CFTR):c.70T>G (p.Leu24Val)
|
rs1056986309
|
0.00001
|
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile)
|
rs377514639
|
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.868C>T (p.Gln290Ter)
|
rs397508808
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
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.944T>C (p.Phe315Ser)
|
rs760319837
|
0.00001
|
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
NM_000492.4(CFTR):c.978A>G (p.Ala326=)
|
rs757622174
|
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.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.3(CFTR):c.2909_2924dup
|
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.1009T>C (p.Phe337Leu)
|
rs771716655
|
|
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn)
|
rs1554381352
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)
|
rs397508146
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1047G>T (p.Ala349=)
|
rs200520623
|
|
NM_000492.4(CFTR):c.1051A>G (p.Thr351Ala)
|
rs1799031080
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1076A>G (p.Gln359Arg)
|
rs397508153
|
|
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg)
|
rs1799033866
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1117-1G>A
|
rs797045160
|
|
NM_000492.4(CFTR):c.1117-4A>G
|
rs1799060630
|
|
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)
|
rs397508163
|
|
NM_000492.4(CFTR):c.1154A>G (p.Tyr385Cys)
|
rs1799062053
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
NM_000492.4(CFTR):c.1176A>G (p.Val392=)
|
rs542860881
|
|
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu)
|
rs1562892874
|
|
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer)
|
rs397508171
|
|
NM_000492.4(CFTR):c.117A>T (p.Gln39His)
|
rs764522674
|
|
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)
|
rs1396443734
|
|
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.1202G>A (p.Trp401Ter)
|
rs397508174
|
|
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter)
|
rs397508175
|
|
NM_000492.4(CFTR):c.1209+1G>A
|
rs397508176
|
|
NM_000492.4(CFTR):c.1210-2A>C
|
rs397508179
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val)
|
rs1324302547
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu)
|
rs559197407
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)
|
rs397508180
|
|
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)
|
rs397508183
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
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.1278C>T (p.Asp426=)
|
rs2896225
|
|
NM_000492.4(CFTR):c.1287C>A (p.Phe429Leu)
|
rs763577850
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs)
|
rs397508186
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
NM_000492.4(CFTR):c.1318G>C (p.Val440Leu)
|
rs1799213656
|
|
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.1340del (p.Lys447fs)
|
rs397508192
|
|
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val)
|
rs1584793570
|
|
NM_000492.4(CFTR):c.134C>G (p.Ser45Cys)
|
rs1798380222
|
|
NM_000492.4(CFTR):c.1353A>G (p.Gly451=)
|
rs1220983447
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)
|
rs797045161
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)
|
rs151020603
|
|
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr)
|
rs1799216405
|
|
NM_000492.4(CFTR):c.1392+395G>A
|
rs1820871
|
|
NM_000492.4(CFTR):c.1393-10T>C
|
rs1799416100
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1407G>A (p.Met469Ile)
|
rs143218779
|
|
NM_000492.4(CFTR):c.1417G>A (p.Gly473Arg)
|
rs1799417518
|
|
NM_000492.4(CFTR):c.1418del (p.Gly473fs)
|
rs397508205
|
|
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu)
|
rs886044297
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val)
|
rs1799418782
|
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)
|
rs121908775
|
|
NM_000492.4(CFTR):c.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.1502C>T (p.Thr501Ile)
|
rs1799421850
|
|
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)
|
rs121908776
|
|
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.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)
|
rs397508227
|
|
NM_000492.4(CFTR):c.164+1G>A
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+2T>C
|
rs121908800
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr)
|
rs1226880376
|
|
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.1687T>G (p.Tyr563Asp)
|
rs121909006
|
|
NM_000492.4(CFTR):c.1703del (p.Leu568fs)
|
rs397508274
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly)
|
rs1792007322
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1742dup (p.Leu581fs)
|
rs397508290
|
|
NM_000492.4(CFTR):c.1746A>C (p.Thr582=)
|
rs751058333
|
|
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg)
|
rs917625450
|
|
NM_000492.4(CFTR):c.1766+1G>C
|
rs121908748
|
|
NM_000492.4(CFTR):c.1766+1G>T
|
rs121908748
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+3A>T
|
rs397508298
|
|
NM_000492.4(CFTR):c.1769G>A (p.Cys590Tyr)
|
rs1347776232
|
|
NM_000492.4(CFTR):c.1783A>G (p.Met595Val)
|
rs750140050
|
|
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs)
|
rs397508303
|
|
NM_000492.4(CFTR):c.1801del (p.Ile601fs)
|
rs1792031758
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.1913C>T (p.Pro638Leu)
|
rs1562907846
|
|
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)
|
rs1584812217
|
|
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)
|
rs121908779
|
|
NM_000492.4(CFTR):c.1928A>G (p.Lys643Arg)
|
rs1085307844
|
|
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr)
|
rs377731410
|
|
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.1966G>T (p.Glu656Ter)
|
rs397508323
|
|
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val)
|
rs777973729
|
|
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs)
|
rs397508325
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)
|
rs397508331
|
|
NM_000492.4(CFTR):c.2044del (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter)
|
rs397508336
|
|
NM_000492.4(CFTR):c.2053dup (p.Gln685fs)
|
rs797045162
|
|
NM_000492.4(CFTR):c.2083dup (p.Glu695fs)
|
rs397508339
|
|
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)
|
rs75115087
|
|
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser)
|
rs1003610229
|
|
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)
|
rs397508343
|
|
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter)
|
rs397508346
|
|
NM_000492.4(CFTR):c.2183C>T (p.Ser728Phe)
|
rs1584812535
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter)
|
rs397508354
|
|
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs)
|
rs397508355
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp)
|
rs777536750
|
|
NM_000492.4(CFTR):c.2313C>T (p.Asn771=)
|
rs768301278
|
|
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter)
|
rs397508365
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.2407A>T (p.Thr803Ser)
|
rs1792049314
|
|
NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr)
|
rs1798471062
|
|
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)
|
rs397508377
|
|
NM_000492.4(CFTR):c.244A>G (p.Met82Val)
|
rs1554376431
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter)
|
rs1792051187
|
|
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs)
|
rs797045156
|
|
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+1G>A
|
rs141158996
|
|
NM_000492.4(CFTR):c.2490+7A>G
|
rs751864459
|
|
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter)
|
rs397508389
|
|
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)
|
rs267606722
|
|
NM_000492.4(CFTR):c.2546A>G (p.Tyr849Cys)
|
rs780811333
|
|
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)
|
rs397508394
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
NM_000492.4(CFTR):c.2573del (p.Ser858fs)
|
rs1562908997
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)
|
rs397508400
|
|
NM_000492.4(CFTR):c.2601dup (p.Val868fs)
|
rs397508405
|
|
NM_000492.4(CFTR):c.2620-26_2620-25insG
|
rs776600589
|
|
NM_000492.4(CFTR):c.2620-2A>G
|
rs1554390859
|
|
NM_000492.4(CFTR):c.2626G>A (p.Ala876Thr)
|
rs1328356747
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)
|
rs397508413
|
|
NM_000492.4(CFTR):c.2658-1G>C
|
rs397508416
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2694T>C (p.Ser898=)
|
rs2116061252
|
|
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)
|
rs121908750
|
|
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
|
rs121909034
|
|
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)
|
rs121908788
|
|
NM_000492.4(CFTR):c.274-2A>C
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-2A>G
|
rs397508426
|
|
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.2755T>A (p.Tyr919Asn)
|
rs1033530699
|
|
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu)
|
rs193922508
|
|
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs)
|
rs397508431
|
|
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.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
|
rs397508435
|
|
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.2822del (p.Leu941fs)
|
rs762844777
|
|
NM_000492.4(CFTR):c.2825del (p.Ile942fs)
|
rs397508441
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.2896del (p.Thr966fs)
|
rs397508451
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2909-4A>G
|
rs397508457
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.2936A>G (p.Asp979Gly)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val)
|
rs1554391473
|
|
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn)
|
rs764644021
|
|
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.2976T>A (p.Phe992Leu)
|
rs758250836
|
|
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)
|
rs762241850
|
|
NM_000492.4(CFTR):c.303dup (p.Leu102fs)
|
rs397508486
|
|
NM_000492.4(CFTR):c.310del (p.Arg104fs)
|
rs397508499
|
|
NM_000492.4(CFTR):c.313del (p.Ile105fs)
|
rs121908801
|
|
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn)
|
rs397508509
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)
|
rs397508549
|
|
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile)
|
rs1554392775
|
|
NM_000492.4(CFTR):c.3423T>G (p.Ser1141Arg)
|
rs748284173
|
|
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter)
|
rs397508560
|
|
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)
|
rs397508561
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn)
|
rs2116129005
|
|
NM_000492.4(CFTR):c.3508C>T (p.Pro1170Ser)
|
rs1792670534
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3530del (p.Lys1177fs)
|
rs397508579
|
|
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)
|
rs121908782
|
|
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu)
|
rs1036123285
|
|
NM_000492.4(CFTR):c.3573G>A (p.Met1191Ile)
|
rs1359962349
|
|
NM_000492.4(CFTR):c.3574A>T (p.Ile1192Phe)
|
rs1792672546
|
|
NM_000492.4(CFTR):c.3590A>G (p.His1197Arg)
|
rs765133036
|
|
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu)
|
rs765133036
|
|
NM_000492.4(CFTR):c.359C>T (p.Ala120Val)
|
rs1265244783
|
|
NM_000492.4(CFTR):c.3600del (p.Asp1201fs)
|
rs2116129596
|
|
NM_000492.4(CFTR):c.3601G>T (p.Asp1201Tyr)
|
rs1182767623
|
|
NM_000492.4(CFTR):c.3605del (p.Asp1202fs)
|
rs397508587
|
|
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter)
|
rs121908764
|
|
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs)
|
rs397508589
|
|
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu)
|
rs151264397
|
|
NM_000492.4(CFTR):c.3628A>G (p.Met1210Val)
|
rs151264397
|
|
NM_000492.4(CFTR):c.3641A>T (p.Asp1214Val)
|
rs1792675407
|
|
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn)
|
rs397508592
|
|
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)
|
rs79660178
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser)
|
rs397508593
|
|
NM_000492.4(CFTR):c.3682G>A (p.Glu1228Lys)
|
rs759116351
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3711C>A (p.Gly1237=)
|
rs1316425599
|
|
NM_000492.4(CFTR):c.3717+1G>A
|
rs750558115
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3717+4A>G
|
rs387906362
|
|
NM_000492.4(CFTR):c.3718-1G>A
|
rs387906369
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.372C>T (p.Gly124=)
|
rs1060503162
|
|
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3747del (p.Lys1250fs)
|
rs797045159
|
|
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.3773dup (p.Leu1258fs)
|
rs121908789
|
|
NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu)
|
rs1554395370
|
|
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn)
|
rs1562923253
|
|
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met)
|
rs1800129
|
|
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter)
|
rs397508613
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3848G>A (p.Arg1283Lys)
|
rs77902683
|
|
NM_000492.4(CFTR):c.3848G>T (p.Arg1283Met)
|
rs77902683
|
|
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser)
|
rs1792935893
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg)
|
rs1792936385
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs)
|
rs1793108213
|
|
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs)
|
rs387906373
|
|
NM_000492.4(CFTR):c.3883del (p.Ile1295fs)
|
rs397508630
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.388C>G (p.Leu130Val)
|
rs397508632
|
|
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs)
|
rs397508633
|
|
NM_000492.4(CFTR):c.3893G>C (p.Gly1298Ala)
|
rs193922522
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3908del (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.390C>G (p.Leu130=)
|
rs1411911535
|
|
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)
|
rs397508645
|
|
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.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.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys)
|
rs1584785049
|
|
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp)
|
rs773458471
|
|
NM_000492.4(CFTR):c.4030T>G (p.Cys1344Gly)
|
rs1793341222
|
|
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs)
|
rs397508662
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr)
|
rs755993775
|
|
NM_000492.4(CFTR):c.4081C>G (p.Leu1361Val)
|
rs772157232
|
|
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn)
|
rs777892053
|
|
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter)
|
rs397508669
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)
|
rs397508678
|
|
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+5G>A
|
rs1584849005
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)
|
rs397508684
|
|
NM_000492.4(CFTR):c.4147dup (p.Ile1383fs)
|
rs397508685
|
|
NM_000492.4(CFTR):c.416A>G (p.His139Arg)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4188A>G (p.Thr1396=)
|
rs1322987429
|
|
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)
|
rs397508693
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
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.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.4242+6T>C
|
rs1562929200
|
|
NM_000492.4(CFTR):c.424A>G (p.Ile142Val)
|
rs1562889369
|
|
NM_000492.4(CFTR):c.424del (p.Ile142fs)
|
rs387906363
|
|
NM_000492.4(CFTR):c.429del (p.Phe143fs)
|
rs387906364
|
|
NM_000492.4(CFTR):c.442del (p.Ile148fs)
|
rs121908770
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)
|
rs1554379887
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.490-2A>G
|
rs397508735
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.508C>A (p.Arg170Ser)
|
rs578029902
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
NM_000492.4(CFTR):c.50del (p.Phe17fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.53+3G>C
|
rs1797978937
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.531dup (p.Gly178fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.543_546del (p.Leu183fs)
|
rs397508750
|
|
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr)
|
rs1798913314
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)
|
rs397508762
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.587C>T (p.Ala196Val)
|
rs1204822296
|
|
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)
|
rs193922529
|
|
NM_000492.4(CFTR):c.596A>G (p.His199Arg)
|
rs397508764
|
|
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro)
|
rs1797976959
|
|
NM_000492.4(CFTR):c.601del (p.Val201fs)
|
rs397508767
|
|
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser)
|
rs748026786
|
|
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)
|
rs397508771
|
|
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)
|
rs397508775
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.67A>G (p.Ile23Val)
|
rs1798377413
|
|
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg)
|
rs397508782
|
|
NM_000492.4(CFTR):c.711G>C (p.Gln237His)
|
rs397508785
|
|
NM_000492.4(CFTR):c.712G>C (p.Ala238Pro)
|
rs1413926814
|
|
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer)
|
rs1554380497
|
|
NM_000492.4(CFTR):c.723_743+1del
|
rs121908804
|
|
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs)
|
rs1057517342
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000492.4(CFTR):c.744-33GATT[6]
|
rs1805171
|
|
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly)
|
rs773790621
|
|
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe)
|
rs762640483
|
|
NM_000492.4(CFTR):c.778G>A (p.Val260Met)
|
rs1390016549
|
|
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)
|
rs397508796
|
|
NM_000492.4(CFTR):c.803del (p.Asn268fs)
|
rs121908772
|
|
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
|
rs397508799
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)
|
rs397508815
|
|
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys)
|
rs1562892143
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
|
NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
|
NM_000492.4(CFTR):c.932T>G (p.Phe311Cys)
|
rs1584789230
|
|
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)
|
rs121909016
|
|
NM_000492.4(CFTR):c.941G>C (p.Gly314Ala)
|
rs75763344
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000492.4(CFTR):c.950T>C (p.Val317Ala)
|
rs1204521684
|
|
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe)
|
rs56093012
|
|
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu)
|
rs397508822
|
|
NM_000492.4(CFTR):c.977C>T (p.Ala326Val)
|
rs1584789296
|
|
NM_000492.4(CFTR):c.987del (p.Gly330fs)
|
rs397508824
|
|