NM_000492.4(CFTR):c.274-179G>A
|
rs1429566
|
0.24654
|
NM_000492.4(CFTR):c.1767-136T>C
|
rs11978434
|
0.20764
|
NM_000492.4(CFTR):c.489+91A>G
|
rs56094102
|
0.02063
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_000492.4(CFTR):c.*1043A>C
|
rs10234329
|
0.01452
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_000492.4(CFTR):c.1584+1179A>G
|
rs191397416
|
0.00558
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
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.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_000492.4(CFTR):c.580-92T>A
|
rs117548166
|
0.00133
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000492.4(CFTR):c.3718-79T>C
|
rs397508597
|
0.00096
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_000492.4(CFTR):c.274-6586A>G
|
rs555473089
|
0.00052
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
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.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000492.4(CFTR):c.54-6168A>G
|
rs753840683
|
0.00037
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00036
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
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.3874-540A>G
|
rs565351573
|
0.00024
|
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.54-8086A>G
|
rs756806855
|
0.00015
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
NM_000492.4(CFTR):c.2620-97C>T
|
rs146376436
|
0.00011
|
NM_000492.4(CFTR):c.738G>A (p.Lys246=)
|
rs35033453
|
0.00011
|
NM_000492.4(CFTR):c.2619+2973A>G
|
rs569442197
|
0.00010
|
NM_000492.4(CFTR):c.1210-15G>T
|
rs947648829
|
0.00009
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
NM_000492.4(CFTR):c.2909-6T>C
|
rs369612622
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.3468+51C>A
|
rs777394766
|
0.00007
|
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=)
|
rs1800134
|
0.00007
|
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)
|
rs1801178
|
0.00006
|
NM_000492.4(CFTR):c.2604A>G (p.Val868=)
|
rs1800105
|
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.3783G>T (p.Leu1261=)
|
rs771812900
|
0.00006
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
NM_000492.4(CFTR):c.489+87A>G
|
rs969399514
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000492.4(CFTR):c.1209+12T>A
|
rs748021847
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.1767-16T>C
|
rs200170245
|
0.00005
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
NM_000492.4(CFTR):c.2475C>T (p.Asn825=)
|
rs746961486
|
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.1227T>C (p.Phe409=)
|
rs778548877
|
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.2490+14G>T
|
rs573016418
|
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.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
NM_000492.4(CFTR):c.393T>C (p.Phe131=)
|
rs1039221071
|
0.00004
|
NM_000492.4(CFTR):c.3964-28G>A
|
rs397508651
|
0.00004
|
NM_000492.4(CFTR):c.4206C>T (p.His1402=)
|
rs368044495
|
0.00004
|
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)
|
rs200520623
|
0.00003
|
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=)
|
rs397508155
|
0.00003
|
NM_000492.4(CFTR):c.1164G>A (p.Thr388=)
|
rs1800088
|
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.1680-26T>C
|
rs397508265
|
0.00003
|
NM_000492.4(CFTR):c.1734A>G (p.Leu578=)
|
rs201025424
|
0.00003
|
NM_000492.4(CFTR):c.1932C>G (p.Leu644=)
|
rs779674687
|
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.274-8T>C
|
rs1186141962
|
0.00003
|
NM_000492.4(CFTR):c.2908+12G>C
|
rs184074547
|
0.00003
|
NM_000492.4(CFTR):c.2908+15C>G
|
rs766686188
|
0.00003
|
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=)
|
rs763937782
|
0.00003
|
NM_000492.4(CFTR):c.489+8T>G
|
rs727504712
|
0.00003
|
NM_000492.4(CFTR):c.53+4A>T
|
rs372610364
|
0.00003
|
NM_000492.4(CFTR):c.1050C>G (p.Val350=)
|
rs1038437842
|
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.1518C>A (p.Ile506=)
|
rs1800092
|
0.00002
|
NM_000492.4(CFTR):c.1680-13A>G
|
rs757981933
|
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.2568C>T (p.His856=)
|
rs761255045
|
0.00002
|
NM_000492.4(CFTR):c.2620-17G>A
|
rs1306021109
|
0.00002
|
NM_000492.4(CFTR):c.2908+19G>C
|
rs370683572
|
0.00002
|
NM_000492.4(CFTR):c.3368-10G>A
|
rs1060504847
|
0.00002
|
NM_000492.4(CFTR):c.336T>C (p.Asp112=)
|
rs909596175
|
0.00002
|
NM_000492.4(CFTR):c.3627A>G (p.Gln1209=)
|
rs770069168
|
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.3852A>G (p.Lys1284=)
|
rs547248892
|
0.00002
|
NM_000492.4(CFTR):c.3874-7G>A
|
rs776663932
|
0.00002
|
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=)
|
rs1800132
|
0.00002
|
NM_000492.4(CFTR):c.417C>T (p.His139=)
|
rs760281820
|
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.810A>G (p.Gln270=)
|
rs767312350
|
0.00002
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
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.1117-31A>G
|
rs1554381590
|
0.00001
|
NM_000492.4(CFTR):c.1117-7T>C
|
rs745505328
|
0.00001
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
NM_000492.4(CFTR):c.1218G>A (p.Gly406=)
|
rs532798256
|
0.00001
|
NM_000492.4(CFTR):c.1392+10T>C
|
rs1371427830
|
0.00001
|
NM_000492.4(CFTR):c.1392+12G>T
|
rs2896226
|
0.00001
|
NM_000492.4(CFTR):c.1393-13G>A
|
rs779389972
|
0.00001
|
NM_000492.4(CFTR):c.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.15T>C (p.Pro5=)
|
rs751475070
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1707T>C (p.Tyr569=)
|
rs397508278
|
0.00001
|
NM_000492.4(CFTR):c.1711T>C (p.Leu571=)
|
rs774376246
|
0.00001
|
NM_000492.4(CFTR):c.1766+8C>G
|
rs1474138131
|
0.00001
|
NM_000492.4(CFTR):c.1770T>C (p.Cys590=)
|
rs1277496713
|
0.00001
|
NM_000492.4(CFTR):c.1809C>T (p.Val603=)
|
rs777795393
|
0.00001
|
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe)
|
rs1048183757
|
0.00001
|
NM_000492.4(CFTR):c.1845A>G (p.Lys615=)
|
rs1792032957
|
0.00001
|
NM_000492.4(CFTR):c.1926A>C (p.Ser642=)
|
rs1554389299
|
0.00001
|
NM_000492.4(CFTR):c.1929A>G (p.Lys643=)
|
rs1792035121
|
0.00001
|
NM_000492.4(CFTR):c.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.2142G>T (p.Val714=)
|
rs1216958032
|
0.00001
|
NM_000492.4(CFTR):c.2220A>G (p.Pro740=)
|
rs1792044298
|
0.00001
|
NM_000492.4(CFTR):c.222G>A (p.Arg74=)
|
rs1562884025
|
0.00001
|
NM_000492.4(CFTR):c.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.2391C>T (p.Ala797=)
|
rs773521854
|
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.2490+12T>A
|
rs1185896776
|
0.00001
|
NM_000492.4(CFTR):c.2490+7A>T
|
rs751864459
|
0.00001
|
NM_000492.4(CFTR):c.2491-8T>C
|
rs540776134
|
0.00001
|
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)
|
rs761043298
|
0.00001
|
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)
|
rs758128209
|
0.00001
|
NM_000492.4(CFTR):c.2544A>T (p.Thr848=)
|
rs751242146
|
0.00001
|
NM_000492.4(CFTR):c.2565C>A (p.Val855=)
|
rs1233428222
|
0.00001
|
NM_000492.4(CFTR):c.258C>A (p.Ile86=)
|
rs374992300
|
0.00001
|
NM_000492.4(CFTR):c.2619+17G>T
|
rs1439697748
|
0.00001
|
NM_000492.4(CFTR):c.2691T>C (p.His897=)
|
rs1792257064
|
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.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.27C>T (p.Ala9=)
|
rs1255831708
|
0.00001
|
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)
|
rs397508438
|
0.00001
|
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)
|
rs193922513
|
0.00001
|
NM_000492.4(CFTR):c.2909-9A>G
|
rs778526355
|
0.00001
|
NM_000492.4(CFTR):c.2931C>T (p.Ser977=)
|
rs1333735364
|
0.00001
|
NM_000492.4(CFTR):c.294G>A (p.Gln98=)
|
rs1225964754
|
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.300C>G (p.Leu100=)
|
rs1206224160
|
0.00001
|
NM_000492.4(CFTR):c.333G>A (p.Pro111=)
|
rs776878618
|
0.00001
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
NM_000492.4(CFTR):c.3375A>G (p.Gly1125=)
|
rs751140170
|
0.00001
|
NM_000492.4(CFTR):c.3441A>G (p.Val1147=)
|
rs375687401
|
0.00001
|
NM_000492.4(CFTR):c.357C>T (p.Ile119=)
|
rs1264742569
|
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.3681A>G (p.Leu1227=)
|
rs943312470
|
0.00001
|
NM_000492.4(CFTR):c.3718-16C>T
|
rs1311755783
|
0.00001
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000492.4(CFTR):c.3780A>G (p.Leu1260=)
|
rs112339787
|
0.00001
|
NM_000492.4(CFTR):c.3873+15T>G
|
rs200482114
|
0.00001
|
NM_000492.4(CFTR):c.3873+7A>T
|
rs752993761
|
0.00001
|
NM_000492.4(CFTR):c.3873+9A>G
|
rs763211778
|
0.00001
|
NM_000492.4(CFTR):c.3874-14C>G
|
rs184271150
|
0.00001
|
NM_000492.4(CFTR):c.3903A>G (p.Arg1301=)
|
rs774683612
|
0.00001
|
NM_000492.4(CFTR):c.3963+9G>A
|
rs370196195
|
0.00001
|
NM_000492.4(CFTR):c.3964-6C>T
|
rs1357128849
|
0.00001
|
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=)
|
rs886061952
|
0.00001
|
NM_000492.4(CFTR):c.406C>T (p.Leu136=)
|
rs1351515691
|
0.00001
|
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=)
|
rs759891255
|
0.00001
|
NM_000492.4(CFTR):c.4107T>C (p.Leu1369=)
|
rs772750690
|
0.00001
|
NM_000492.4(CFTR):c.4110T>C (p.Asp1370=)
|
rs1793345654
|
0.00001
|
NM_000492.4(CFTR):c.4136+12A>G
|
rs777853603
|
0.00001
|
NM_000492.4(CFTR):c.4137-4C>A
|
rs766178879
|
0.00001
|
NM_000492.4(CFTR):c.4137-7T>C
|
rs1400171855
|
0.00001
|
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=)
|
rs397508683
|
0.00001
|
NM_000492.4(CFTR):c.4242+8T>C
|
rs1258671235
|
0.00001
|
NM_000492.4(CFTR):c.475T>C (p.Leu159=)
|
rs769183771
|
0.00001
|
NM_000492.4(CFTR):c.489+25A>G
|
rs531830892
|
0.00001
|
NM_000492.4(CFTR):c.489+7C>T
|
rs770608125
|
0.00001
|
NM_000492.4(CFTR):c.490-7C>A
|
rs374318903
|
0.00001
|
NM_000492.4(CFTR):c.537A>G (p.Gln179=)
|
rs991635265
|
0.00001
|
NM_000492.4(CFTR):c.54-8T>A
|
rs778197563
|
0.00001
|
NM_000492.4(CFTR):c.579+34A>G
|
rs148209839
|
0.00001
|
NM_000492.4(CFTR):c.588A>G (p.Ala196=)
|
rs749896021
|
0.00001
|
NM_000492.4(CFTR):c.612T>G (p.Ala204=)
|
rs369247323
|
0.00001
|
NM_000492.4(CFTR):c.640C>T (p.Leu214=)
|
rs188457893
|
0.00001
|
NM_000492.4(CFTR):c.720A>G (p.Leu240=)
|
rs1344097861
|
0.00001
|
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)
|
rs758012554
|
0.00001
|
NM_000492.4(CFTR):c.744-15T>C
|
rs369149477
|
0.00001
|
NM_000492.4(CFTR):c.744-6T>G
|
rs878854022
|
0.00001
|
NM_000492.4(CFTR):c.801A>G (p.Glu267=)
|
rs1394905892
|
0.00001
|
NM_000492.4(CFTR):c.869+25A>G
|
rs1554380840
|
0.00001
|
NM_000492.4(CFTR):c.900C>A (p.Ala300=)
|
rs146652541
|
0.00001
|
NM_000492.4(CFTR):c.927C>G (p.Ala309=)
|
rs1800084
|
0.00001
|
NM_000492.4(CFTR):c.93C>A (p.Arg31=)
|
rs766315026
|
0.00001
|
NM_000492.4(CFTR):c.942G>T (p.Gly314=)
|
rs1244183935
|
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_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.4(CFTR):c.*133del
|
rs145697705
|
|
NM_000492.4(CFTR):c.1014C>A (p.Thr338=)
|
|
|
NM_000492.4(CFTR):c.1017C>T (p.Thr339=)
|
rs1359708278
|
|
NM_000492.4(CFTR):c.1032T>C (p.Ile344=)
|
|
|
NM_000492.4(CFTR):c.1035T>C (p.Val345=)
|
|
|
NM_000492.4(CFTR):c.1038G>A (p.Leu346=)
|
rs2116684331
|
|
NM_000492.4(CFTR):c.1041C>G (p.Arg347=)
|
rs2116684356
|
|
NM_000492.4(CFTR):c.1047G>T (p.Ala349=)
|
rs200520623
|
|
NM_000492.4(CFTR):c.1050C>T (p.Val350=)
|
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1059A>G (p.Gln353=)
|
rs1800087
|
|
NM_000492.4(CFTR):c.105A>C (p.Ser35=)
|
rs2116635193
|
|
NM_000492.4(CFTR):c.1071T>C (p.Ala357=)
|
|
|
NM_000492.4(CFTR):c.1074A>G (p.Val358=)
|
rs200708728
|
|
NM_000492.4(CFTR):c.1077A>G (p.Gln359=)
|
rs761324191
|
|
NM_000492.4(CFTR):c.1080A>G (p.Thr360=)
|
rs201246833
|
|
NM_000492.4(CFTR):c.108C>T (p.Asp36=)
|
|
|
NM_000492.4(CFTR):c.1092T>A (p.Ser364=)
|
rs1584789482
|
|
NM_000492.4(CFTR):c.1095T>A (p.Leu365=)
|
|
|
NM_000492.4(CFTR):c.1098A>T (p.Gly366=)
|
|
|
NM_000492.4(CFTR):c.1116+12T>G
|
|
|
NM_000492.4(CFTR):c.1116+15T>A
|
|
|
NM_000492.4(CFTR):c.1116+18T>C
|
|
|
NM_000492.4(CFTR):c.1116+7T>C
|
rs200659687
|
|
NM_000492.4(CFTR):c.1117-12T>C
|
|
|
NM_000492.4(CFTR):c.1117-15C>G
|
|
|
NM_000492.4(CFTR):c.1117-17C>T
|
|
|
NM_000492.4(CFTR):c.1117-26_1117-25del
|
rs397508159
|
|
NM_000492.4(CFTR):c.1117-64G>A
|
|
|
NM_000492.4(CFTR):c.1117-64G>C
|
|
|
NM_000492.4(CFTR):c.1117-6A>G
|
|
|
NM_000492.4(CFTR):c.1117-8A>G
|
rs897417102
|
|
NM_000492.4(CFTR):c.1117-9T>C
|
|
|
NM_000492.4(CFTR):c.1131G>A (p.Lys377=)
|
|
|
NM_000492.4(CFTR):c.1137A>G (p.Glu379=)
|
|
|
NM_000492.4(CFTR):c.1146A>C (p.Thr382=)
|
|
|
NM_000492.4(CFTR):c.1146A>G (p.Thr382=)
|
|
|
NM_000492.4(CFTR):c.1146A>T (p.Thr382=)
|
|
|
NM_000492.4(CFTR):c.1147T>C (p.Leu383=)
|
|
|
NM_000492.4(CFTR):c.114C>T (p.Tyr38=)
|
|
|
NM_000492.4(CFTR):c.1152A>G (p.Glu384=)
|
|
|
NM_000492.4(CFTR):c.1155T>C (p.Tyr385=)
|
|
|
NM_000492.4(CFTR):c.1158C>T (p.Asn386=)
|
|
|
NM_000492.4(CFTR):c.1159T>C (p.Leu387=)
|
rs2115882338
|
|
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.1167T>C (p.Thr389=)
|
rs2115882403
|
|
NM_000492.4(CFTR):c.1170A>C (p.Thr390=)
|
rs2115882431
|
|
NM_000492.4(CFTR):c.1170A>G (p.Thr390=)
|
|
|
NM_000492.4(CFTR):c.1176A>G (p.Val392=)
|
rs542860881
|
|
NM_000492.4(CFTR):c.1185G>A (p.Glu395=)
|
|
|
NM_000492.4(CFTR):c.1191A>T (p.Val397=)
|
|
|
NM_000492.4(CFTR):c.1209+10T>C
|
|
|
NM_000492.4(CFTR):c.1209+11T>C
|
|
|
NM_000492.4(CFTR):c.1209+13A>T
|
|
|
NM_000492.4(CFTR):c.1209+15A>G
|
|
|
NM_000492.4(CFTR):c.1209+18A>C
|
rs193922499
|
|
NM_000492.4(CFTR):c.1209+80G>A
|
rs948980243
|
|
NM_000492.4(CFTR):c.1209+9T>G
|
|
|
NM_000492.4(CFTR):c.120C>T (p.Ile40=)
|
rs376538363
|
|
NM_000492.4(CFTR):c.1210-11_1210-10insGT
|
rs1584793368
|
|
NM_000492.4(CFTR):c.1210-11_1210-10insGTGT
|
|
|
NM_000492.4(CFTR):c.1210-11_1210-9delinsG
|
rs2115902456
|
|
NM_000492.4(CFTR):c.1210-13_1210-11dup
|
|
|
NM_000492.4(CFTR):c.1210-14_1210-13insTT
|
|
|
NM_000492.4(CFTR):c.1210-15_1210-13delinsT
|
rs1584793324
|
|
NM_000492.4(CFTR):c.1210-15_1210-13delinsTT
|
|
|
NM_000492.4(CFTR):c.1210-15_1210-13delinsTTT
|
|
|
NM_000492.4(CFTR):c.1210-17G>T
|
|
|
NM_000492.4(CFTR):c.1210-17_1210-13delinsTTT
|
|
|
NM_000492.4(CFTR):c.1210-19G>A
|
|
|
NM_000492.4(CFTR):c.1210-307GT[14]
|
rs3034794
|
|
NM_000492.4(CFTR):c.1210-30T>G
|
|
|
NM_000492.4(CFTR):c.1210-6dup
|
rs1805177
|
|
NM_000492.4(CFTR):c.1212A>T (p.Gly404=)
|
|
|
NM_000492.4(CFTR):c.1221A>G (p.Glu407=)
|
rs2115902714
|
|
NM_000492.4(CFTR):c.1222T>C (p.Leu408=)
|
|
|
NM_000492.4(CFTR):c.123T>C (p.Pro41=)
|
rs1798379857
|
|
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.1263T>C (p.Thr421=)
|
|
|
NM_000492.4(CFTR):c.1269T>C (p.Asn423=)
|
rs376039579
|
|
NM_000492.4(CFTR):c.1272T>C (p.Gly424=)
|
rs2115903186
|
|
NM_000492.4(CFTR):c.1272T>G (p.Gly424=)
|
|
|
NM_000492.4(CFTR):c.1275T>C (p.Asp425=)
|
rs1562895009
|
|
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)
|
rs2896225
|
|
NM_000492.4(CFTR):c.1284C>G (p.Leu428=)
|
|
|
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
|
|
|
NM_000492.4(CFTR):c.1296T>C (p.Asn432=)
|
|
|
NM_000492.4(CFTR):c.1299C>T (p.Phe433=)
|
|
|
NM_000492.4(CFTR):c.12G>T (p.Ser4=)
|
rs1158877973
|
|
NM_000492.4(CFTR):c.1302A>G (p.Ser434=)
|
|
|
NM_000492.4(CFTR):c.1305T>C (p.Leu435=)
|
|
|
NM_000492.4(CFTR):c.1308T>G (p.Leu436=)
|
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
NM_000492.4(CFTR):c.1317T>C (p.Pro439=)
|
rs1562895052
|
|
NM_000492.4(CFTR):c.1317T>G (p.Pro439=)
|
rs1562895052
|
|
NM_000492.4(CFTR):c.1332T>C (p.Ile444=)
|
|
|
NM_000492.4(CFTR):c.1341G>A (p.Lys447=)
|
|
|
NM_000492.4(CFTR):c.1353A>G (p.Gly451=)
|
rs1220983447
|
|
NM_000492.4(CFTR):c.1356G>A (p.Gln452=)
|
|
|
NM_000492.4(CFTR):c.1359G>A (p.Leu453=)
|
|
|
NM_000492.4(CFTR):c.135T>A (p.Ser45=)
|
|
|
NM_000492.4(CFTR):c.135T>G (p.Ser45=)
|
|
|
NM_000492.4(CFTR):c.1362G>A (p.Leu454=)
|
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
NM_000492.4(CFTR):c.1371T>C (p.Ala457=)
|
|
|
NM_000492.4(CFTR):c.1371T>G (p.Ala457=)
|
|
|
NM_000492.4(CFTR):c.1386A>G (p.Ala462=)
|
|
|
NM_000492.4(CFTR):c.1392+11T>C
|
|
|
NM_000492.4(CFTR):c.1392+12del
|
|
|
NM_000492.4(CFTR):c.1392+14T>G
|
|
|
NM_000492.4(CFTR):c.1392+15C>G
|
|
|
NM_000492.4(CFTR):c.1392+16T>A
|
|
|
NM_000492.4(CFTR):c.1392+19A>G
|
|
|
NM_000492.4(CFTR):c.1392+19A>T
|
|
|
NM_000492.4(CFTR):c.1392+2787A>G
|
|
|
NM_000492.4(CFTR):c.1392+7C>T
|
|
|
NM_000492.4(CFTR):c.1392+9T>C
|
|
|
NM_000492.4(CFTR):c.1393-18G>A
|
rs397508199
|
|
NM_000492.4(CFTR):c.1393-20A>G
|
|
|
NM_000492.4(CFTR):c.1393-26_1393-16del
|
|
|
NM_000492.4(CFTR):c.1393-4C>A
|
rs1799416194
|
|
NM_000492.4(CFTR):c.1393-4C>G
|
rs1799416194
|
|
NM_000492.4(CFTR):c.1393-4C>T
|
|
|
NM_000492.4(CFTR):c.1393-565G>T
|
|
|
NM_000492.4(CFTR):c.1393-6T>C
|
rs966524603
|
|
NM_000492.4(CFTR):c.1393-8A>T
|
rs2115937364
|
|
NM_000492.4(CFTR):c.1395T>C (p.Thr465=)
|
|
|
NM_000492.4(CFTR):c.1401T>C (p.Leu467=)
|
|
|
NM_000492.4(CFTR):c.1402C>T (p.Leu468=)
|
|
|
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.1431T>C (p.Pro477=)
|
|
|
NM_000492.4(CFTR):c.1434A>C (p.Ser478=)
|
|
|
NM_000492.4(CFTR):c.1437G>A (p.Glu479=)
|
rs754152822
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
NM_000492.4(CFTR):c.1449G>A (p.Lys483=)
|
|
|
NM_000492.4(CFTR):c.1452C>T (p.His484=)
|
|
|
NM_000492.4(CFTR):c.1455T>C (p.Ser485=)
|
|
|
NM_000492.4(CFTR):c.1458A>G (p.Gly486=)
|
|
|
NM_000492.4(CFTR):c.1464T>C (p.Ile488=)
|
rs1799419575
|
|
NM_000492.4(CFTR):c.1467A>G (p.Ser489=)
|
rs1799419729
|
|
NM_000492.4(CFTR):c.1470C>T (p.Phe490=)
|
rs1799420001
|
|
NM_000492.4(CFTR):c.1479G>A (p.Gln493=)
|
|
|
NM_000492.4(CFTR):c.147A>C (p.Leu49=)
|
|
|
NM_000492.4(CFTR):c.1485C>G (p.Ser495=)
|
|
|
NM_000492.4(CFTR):c.1500C>G (p.Gly500=)
|
|
|
NM_000492.4(CFTR):c.1503C>T (p.Thr501=)
|
|
|
NM_000492.4(CFTR):c.1509A>G (p.Lys503=)
|
|
|
NM_000492.4(CFTR):c.150T>G (p.Ser50=)
|
rs2116635296
|
|
NM_000492.4(CFTR):c.1515T>C (p.Asn505=)
|
|
|
NM_000492.4(CFTR):c.1524T>C (p.Phe508=)
|
|
|
NM_000492.4(CFTR):c.1536T>C (p.Tyr512=)
|
rs2115938553
|
|
NM_000492.4(CFTR):c.1539T>C (p.Asp513=)
|
|
|
NM_000492.4(CFTR):c.1542A>G (p.Glu514=)
|
|
|
NM_000492.4(CFTR):c.1551C>T (p.Tyr517=)
|
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1560C>T (p.Val520=)
|
rs768151081
|
|
NM_000492.4(CFTR):c.1576C>T (p.Leu526=)
|
|
|
NM_000492.4(CFTR):c.157T>C (p.Leu53=)
|
|
|
NM_000492.4(CFTR):c.1584+1000del
|
|
|
NM_000492.4(CFTR):c.1584+10T>G
|
|
|
NM_000492.4(CFTR):c.1584+11_1584+13dup
|
rs1554384454
|
|
NM_000492.4(CFTR):c.1584+13G>A
|
|
|
NM_000492.4(CFTR):c.1584+15G>T
|
|
|
NM_000492.4(CFTR):c.1584+18A>C
|
|
|
NM_000492.4(CFTR):c.1584+4639G>T
|
rs575943791
|
|
NM_000492.4(CFTR):c.1584+9C>T
|
rs2115939119
|
|
NM_000492.4(CFTR):c.1585-13846A>G
|
|
|
NM_000492.4(CFTR):c.1585-7957A>G
|
rs145778105
|
|
NM_000492.4(CFTR):c.159G>A (p.Leu53=)
|
rs2116635315
|
|
NM_000492.4(CFTR):c.164+10T>A
|
rs1310634696
|
|
NM_000492.4(CFTR):c.164+10T>C
|
rs1310634696
|
|
NM_000492.4(CFTR):c.164+10delinsATGA
|
|
|
NM_000492.4(CFTR):c.164+14C>G
|
|
|
NM_000492.4(CFTR):c.164+15A>G
|
|
|
NM_000492.4(CFTR):c.164+16T>C
|
|
|
NM_000492.4(CFTR):c.164+18G>A
|
|
|
NM_000492.4(CFTR):c.164+9A>G
|
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
NM_000492.4(CFTR):c.164+9_164+10insATG
|
rs1798381614
|
|
NM_000492.4(CFTR):c.1680-20A>C
|
|
|
NM_000492.4(CFTR):c.1680-871_1680-870delinsGA
|
rs727504811
|
|
NM_000492.4(CFTR):c.1680-877G>A
|
rs397508261
|
|
NM_000492.4(CFTR):c.1680-9T>C
|
rs1252191433
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1686A>G (p.Val562=)
|
|
|
NM_000492.4(CFTR):c.16C>T (p.Leu6=)
|
rs1554373095
|
|
NM_000492.4(CFTR):c.1704G>A (p.Leu568=)
|
rs397508275
|
|
NM_000492.4(CFTR):c.1719T>A (p.Ser573=)
|
|
|
NM_000492.4(CFTR):c.1722T>A (p.Pro574=)
|
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
NM_000492.4(CFTR):c.1732C>T (p.Leu578=)
|
rs979121392
|
|
NM_000492.4(CFTR):c.1746A>C (p.Thr582=)
|
rs751058333
|
|
NM_000492.4(CFTR):c.1746A>G (p.Thr582=)
|
|
|
NM_000492.4(CFTR):c.1749A>G (p.Glu583=)
|
rs2116025833
|
|
NM_000492.4(CFTR):c.1758A>T (p.Ile586=)
|
rs1462572352
|
|
NM_000492.4(CFTR):c.1766+10T>C
|
|
|
NM_000492.4(CFTR):c.1766+11del
|
rs754798684
|
|
NM_000492.4(CFTR):c.1766+16A>G
|
rs2116026057
|
|
NM_000492.4(CFTR):c.1766+79T>A
|
|
|
NM_000492.4(CFTR):c.1766+7T>A
|
|
|
NM_000492.4(CFTR):c.1766+80T>A
|
|
|
NM_000492.4(CFTR):c.1766+80T>C
|
|
|
NM_000492.4(CFTR):c.1766+81T>A
|
|
|
NM_000492.4(CFTR):c.1766+82A>T
|
|
|
NM_000492.4(CFTR):c.1766+8C>T
|
rs1474138131
|
|
NM_000492.4(CFTR):c.1767-11A>G
|
|
|
NM_000492.4(CFTR):c.1767-13T>G
|
rs2116029937
|
|
NM_000492.4(CFTR):c.1767-19A>G
|
|
|
NM_000492.4(CFTR):c.1767-4A>G
|
rs2116029980
|
|
NM_000492.4(CFTR):c.1767-7C>T
|
rs2116029974
|
|
NM_000492.4(CFTR):c.1767-9A>G
|
rs1223678085
|
|
NM_000492.4(CFTR):c.1773C>T (p.Val591=)
|
|
|
NM_000492.4(CFTR):c.1779A>G (p.Lys593=)
|
rs1217712466
|
|
NM_000492.4(CFTR):c.1780C>T (p.Leu594=)
|
|
|
NM_000492.4(CFTR):c.1782G>T (p.Leu594=)
|
rs2116030062
|
|
NM_000492.4(CFTR):c.1797T>C (p.Thr599=)
|
|
|
NM_000492.4(CFTR):c.1804T>C (p.Leu602=)
|
rs1380798382
|
|
NM_000492.4(CFTR):c.1824A>G (p.Glu608=)
|
rs2116030297
|
|
NM_000492.4(CFTR):c.1828T>C (p.Leu610=)
|
|
|
NM_000492.4(CFTR):c.1860T>C (p.His620=)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1863A>G (p.Glu621=)
|
|
|
NM_000492.4(CFTR):c.1875T>C (p.Tyr625=)
|
|
|
NM_000492.4(CFTR):c.1881T>C (p.Tyr627=)
|
|
|
NM_000492.4(CFTR):c.1890T>C (p.Phe630=)
|
|
|
NM_000492.4(CFTR):c.1899C>T (p.Leu633=)
|
|
|
NM_000492.4(CFTR):c.1902A>G (p.Gln634=)
|
rs2116030586
|
|
NM_000492.4(CFTR):c.1905T>C (p.Asn635=)
|
|
|
NM_000492.4(CFTR):c.1932C>T (p.Leu644=)
|
|
|
NM_000492.4(CFTR):c.1938A>G (p.Gly646=)
|
|
|
NM_000492.4(CFTR):c.1941T>C (p.Cys647=)
|
|
|
NM_000492.4(CFTR):c.1947T>C (p.Ser649=)
|
|
|
NM_000492.4(CFTR):c.1950C>T (p.Phe650=)
|
rs200204024
|
|
NM_000492.4(CFTR):c.1953C>T (p.Asp651=)
|
|
|
NM_000492.4(CFTR):c.1962T>C (p.Ser654=)
|
rs1792036042
|
|
NM_000492.4(CFTR):c.1974A>G (p.Arg658=)
|
rs2116031024
|
|
NM_000492.4(CFTR):c.198T>C (p.Asn66=)
|
|
|
NM_000492.4(CFTR):c.1995C>A (p.Thr665=)
|
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
NM_000492.4(CFTR):c.2007C>T (p.Phe669=)
|
rs958140362
|
|
NM_000492.4(CFTR):c.2010A>C (p.Ser670=)
|
|
|
NM_000492.4(CFTR):c.2019A>G (p.Gly673=)
|
rs2116031424
|
|
NM_000492.4(CFTR):c.2022T>C (p.Asp674=)
|
rs1259091056
|
|
NM_000492.4(CFTR):c.2025T>G (p.Ala675=)
|
|
|
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)
|
rs762888022
|
|
NM_000492.4(CFTR):c.2046A>G (p.Thr682=)
|
rs2116031574
|
|
NM_000492.4(CFTR):c.2058T>C (p.Ser686=)
|
|
|
NM_000492.4(CFTR):c.2058T>G (p.Ser686=)
|
rs1470966740
|
|
NM_000492.4(CFTR):c.2061T>C (p.Phe687=)
|
|
|
NM_000492.4(CFTR):c.2064A>G (p.Lys688=)
|
|
|
NM_000492.4(CFTR):c.2067G>A (p.Gln689=)
|
|
|
NM_000492.4(CFTR):c.2070T>C (p.Thr690=)
|
|
|
NM_000492.4(CFTR):c.2076G>A (p.Glu692=)
|
|
|
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)
|
rs397508338
|
|
NM_000492.4(CFTR):c.2082G>A (p.Gly694=)
|
rs1584812453
|
|
NM_000492.4(CFTR):c.2082G>C (p.Gly694=)
|
|
|
NM_000492.4(CFTR):c.2094G>A (p.Lys698=)
|
|
|
NM_000492.4(CFTR):c.2106C>G (p.Leu702=)
|
rs1800102
|
|
NM_000492.4(CFTR):c.2106C>T (p.Leu702=)
|
rs1800102
|
|
NM_000492.4(CFTR):c.2109T>C (p.Asn703=)
|
rs770386926
|
|
NM_000492.4(CFTR):c.2115C>A (p.Ile705=)
|
rs1453360094
|
|
NM_000492.4(CFTR):c.2115C>T (p.Ile705=)
|
|
|
NM_000492.4(CFTR):c.2121T>A (p.Ser707=)
|
rs2116031968
|
|
NM_000492.4(CFTR):c.2124A>T (p.Ile708=)
|
|
|
NM_000492.4(CFTR):c.2127A>G (p.Arg709=)
|
rs2116032010
|
|
NM_000492.4(CFTR):c.2130A>G (p.Lys710=)
|
|
|
NM_000492.4(CFTR):c.2136C>T (p.Ser712=)
|
|
|
NM_000492.4(CFTR):c.2139T>A (p.Ile713=)
|
|
|
NM_000492.4(CFTR):c.2139T>C (p.Ile713=)
|
rs763930691
|
|
NM_000492.4(CFTR):c.2148G>A (p.Lys716=)
|
rs2116032125
|
|
NM_000492.4(CFTR):c.2151T>C (p.Thr717=)
|
|
|
NM_000492.4(CFTR):c.2151T>G (p.Thr717=)
|
rs2116032144
|
|
NM_000492.4(CFTR):c.2154C>T (p.Pro718=)
|
|
|
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.2172C>A (p.Ile724=)
|
|
|
NM_000492.4(CFTR):c.2172C>T (p.Ile724=)
|
rs368599862
|
|
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
|
|
|
NM_000492.4(CFTR):c.2181T>C (p.Asp727=)
|
rs1792043547
|
|
NM_000492.4(CFTR):c.2187T>C (p.Asp729=)
|
|
|
NM_000492.4(CFTR):c.2190G>A (p.Glu730=)
|
|
|
NM_000492.4(CFTR):c.2202A>G (p.Arg734=)
|
|
|
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.2217A>G (p.Val739=)
|
|
|
NM_000492.4(CFTR):c.2226T>C (p.Ser742=)
|
rs2116032463
|
|
NM_000492.4(CFTR):c.2229G>A (p.Glu743=)
|
|
|
NM_000492.4(CFTR):c.2235A>G (p.Gly745=)
|
|
|
NM_000492.4(CFTR):c.2262G>T (p.Val754=)
|
|
|
NM_000492.4(CFTR):c.2283T>G (p.Leu761=)
|
|
|
NM_000492.4(CFTR):c.2286G>A (p.Gln762=)
|
|
|
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.2290C>A (p.Arg764=)
|
|
|
NM_000492.4(CFTR):c.2295G>A (p.Arg765=)
|
|
|
NM_000492.4(CFTR):c.2301G>A (p.Gln767=)
|
rs1386366130
|
|
NM_000492.4(CFTR):c.2307C>G (p.Val769=)
|
rs1241371944
|
|
NM_000492.4(CFTR):c.2310G>T (p.Leu770=)
|
|
|
NM_000492.4(CFTR):c.2313C>T (p.Asn771=)
|
rs768301278
|
|
NM_000492.4(CFTR):c.231T>C (p.Phe77=)
|
rs2116641592
|
|
NM_000492.4(CFTR):c.2322A>G (p.Thr774=)
|
|
|
NM_000492.4(CFTR):c.2328A>G (p.Ser776=)
|
rs2116033048
|
|
NM_000492.4(CFTR):c.2346C>T (p.Asn782=)
|
|
|
NM_000492.4(CFTR):c.234C>T (p.Phe78=)
|
|
|
NM_000492.4(CFTR):c.2373A>C (p.Thr791=)
|
|
|
NM_000492.4(CFTR):c.2374C>A (p.Arg792=)
|
|
|
NM_000492.4(CFTR):c.2397G>A (p.Gln799=)
|
|
|
NM_000492.4(CFTR):c.2413C>T (p.Leu805=)
|
rs2116033549
|
|
NM_000492.4(CFTR):c.2415G>C (p.Leu805=)
|
|
|
NM_000492.4(CFTR):c.2421A>C (p.Ile807=)
|
|
|
NM_000492.4(CFTR):c.2427A>T (p.Ser809=)
|
|
|
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.2454G>A (p.Leu818=)
|
|
|
NM_000492.4(CFTR):c.2472T>A (p.Ile824=)
|
|
|
NM_000492.4(CFTR):c.2472T>C (p.Ile824=)
|
|
|
NM_000492.4(CFTR):c.2484C>T (p.Asp828=)
|
|
|
NM_000492.4(CFTR):c.2490+11A>G
|
rs1482271794
|
|
NM_000492.4(CFTR):c.2490+14G>A
|
rs573016418
|
|
NM_000492.4(CFTR):c.2490+18G>T
|
|
|
NM_000492.4(CFTR):c.2490+19G>A
|
|
|
NM_000492.4(CFTR):c.2490+19G>C
|
rs368353825
|
|
NM_000492.4(CFTR):c.2490+19G>T
|
|
|
NM_000492.4(CFTR):c.2490+6del
|
rs2116034194
|
|
NM_000492.4(CFTR):c.2490+7A>G
|
rs751864459
|
|
NM_000492.4(CFTR):c.2490+8T>C
|
|
|
NM_000492.4(CFTR):c.2491-10T>C
|
|
|
NM_000492.4(CFTR):c.2491-11C>A
|
|
|
NM_000492.4(CFTR):c.2491-18C>T
|
|
|
NM_000492.4(CFTR):c.2491-19C>A
|
|
|
NM_000492.4(CFTR):c.2491-5T>C
|
|
|
NM_000492.4(CFTR):c.2491-7T>A
|
|
|
NM_000492.4(CFTR):c.2493G>A (p.Glu831=)
|
|
|
NM_000492.4(CFTR):c.2496C>T (p.Cys832=)
|
rs397508388
|
|
NM_000492.4(CFTR):c.24G>A (p.Lys8=)
|
rs1800071
|
|
NM_000492.4(CFTR):c.2508T>C (p.Asp836=)
|
|
|
NM_000492.4(CFTR):c.2529G>A (p.Val843=)
|
|
|
NM_000492.4(CFTR):c.2529G>T (p.Val843=)
|
|
|
NM_000492.4(CFTR):c.2532T>G (p.Thr844=)
|
|
|
NM_000492.4(CFTR):c.2547C>T (p.Tyr849=)
|
rs397508394
|
|
NM_000492.4(CFTR):c.2556T>C (p.Tyr852=)
|
|
|
NM_000492.4(CFTR):c.255A>G (p.Gly85=)
|
|
|
NM_000492.4(CFTR):c.2562T>A (p.Thr854=)
|
|
|
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)
|
rs1584813846
|
|
NM_000492.4(CFTR):c.2565C>G (p.Val855=)
|
rs1233428222
|
|
NM_000492.4(CFTR):c.2571G>A (p.Lys857=)
|
rs397508398
|
|
NM_000492.4(CFTR):c.2574C>T (p.Ser858=)
|
rs2116039690
|
|
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.2605A>G (p.Ile869Val)
|
|
|
NM_000492.4(CFTR):c.2619+11T>G
|
|
|
NM_000492.4(CFTR):c.2619+12C>G
|
|
|
NM_000492.4(CFTR):c.2619+13T>C
|
|
|
NM_000492.4(CFTR):c.2619+14A>G
|
|
|
NM_000492.4(CFTR):c.2619+16T>C
|
|
|
NM_000492.4(CFTR):c.2619+19A>G
|
|
|
NM_000492.4(CFTR):c.2619+20_2619+24del
|
|
|
NM_000492.4(CFTR):c.2619+7A>C
|
rs2116039906
|
|
NM_000492.4(CFTR):c.2619+7A>G
|
rs2116039906
|
|
NM_000492.4(CFTR):c.2619+8T>C
|
|
|
NM_000492.4(CFTR):c.2619+8T>G
|
|
|
NM_000492.4(CFTR):c.2620-11T>C
|
|
|
NM_000492.4(CFTR):c.2620-12G>A
|
|
|
NM_000492.4(CFTR):c.2620-12G>T
|
|
|
NM_000492.4(CFTR):c.2620-14T>C
|
|
|
NM_000492.4(CFTR):c.2620-15C>T
|
rs139379077
|
|
NM_000492.4(CFTR):c.2620-18T>C
|
|
|
NM_000492.4(CFTR):c.2620-19G>A
|
|
|
NM_000492.4(CFTR):c.2620-26_2620-25insG
|
rs776600589
|
|
NM_000492.4(CFTR):c.2620-4C>A
|
rs1180219519
|
|
NM_000492.4(CFTR):c.2620-7A>G
|
rs1335322650
|
|
NM_000492.4(CFTR):c.2620-80G>A
|
|
|
NM_000492.4(CFTR):c.2620-80G>T
|
|
|
NM_000492.4(CFTR):c.2620-81T>G
|
|
|
NM_000492.4(CFTR):c.2620-82G>T
|
|
|
NM_000492.4(CFTR):c.2620-8C>T
|
|
|
NM_000492.4(CFTR):c.2620-9C>G
|
rs1239102386
|
|
NM_000492.4(CFTR):c.2628T>C (p.Ala876=)
|
rs2116059284
|
|
NM_000492.4(CFTR):c.2632T>C (p.Leu878=)
|
rs2116059306
|
|
NM_000492.4(CFTR):c.2637T>C (p.Val879=)
|
|
|
NM_000492.4(CFTR):c.2641C>T (p.Leu881=)
|
rs2116059368
|
|
NM_000492.4(CFTR):c.264A>G (p.Leu88=)
|
|
|
NM_000492.4(CFTR):c.2657+11C>T
|
|
|
NM_000492.4(CFTR):c.2657+12A>G
|
rs1792246845
|
|
NM_000492.4(CFTR):c.2657+16C>T
|
|
|
NM_000492.4(CFTR):c.2657+17C>T
|
rs368543375
|
|
NM_000492.4(CFTR):c.2657+19A>G
|
|
|
NM_000492.4(CFTR):c.2657+7A>T
|
rs750080974
|
|
NM_000492.4(CFTR):c.2658-13A>G
|
|
|
NM_000492.4(CFTR):c.2658-16C>T
|
|
|
NM_000492.4(CFTR):c.2658-4A>G
|
rs2116061003
|
|
NM_000492.4(CFTR):c.2658-5T>C
|
|
|
NM_000492.4(CFTR):c.2658-6T>C
|
rs2116060994
|
|
NM_000492.4(CFTR):c.2658-8C>T
|
rs2116060987
|
|
NM_000492.4(CFTR):c.2673C>T (p.Asp891=)
|
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2689C>T (p.His897Tyr)
|
|
|
NM_000492.4(CFTR):c.2694T>C (p.Ser898=)
|
rs2116061252
|
|
NM_000492.4(CFTR):c.2697A>G (p.Arg899=)
|
rs2116061262
|
|
NM_000492.4(CFTR):c.2700T>C (p.Asn900=)
|
|
|
NM_000492.4(CFTR):c.2706C>T (p.Ser902=)
|
|
|
NM_000492.4(CFTR):c.2715G>A (p.Val905=)
|
|
|
NM_000492.4(CFTR):c.2724C>T (p.Thr908=)
|
|
|
NM_000492.4(CFTR):c.273+10019C>T
|
|
|
NM_000492.4(CFTR):c.273+10T>G
|
|
|
NM_000492.4(CFTR):c.273+11C>T
|
|
|
NM_000492.4(CFTR):c.273+13T>C
|
|
|
NM_000492.4(CFTR):c.273+14T>C
|
|
|
NM_000492.4(CFTR):c.273+16G>T
|
|
|
NM_000492.4(CFTR):c.273+19C>A
|
|
|
NM_000492.4(CFTR):c.273+8T>A
|
rs1189108407
|
|
NM_000492.4(CFTR):c.2730C>A (p.Thr910=)
|
rs2116061425
|
|
NM_000492.4(CFTR):c.2730C>G (p.Thr910=)
|
|
|
NM_000492.4(CFTR):c.2730C>T (p.Thr910=)
|
|
|
NM_000492.4(CFTR):c.2733T>C (p.Ser911=)
|
|
|
NM_000492.4(CFTR):c.2736G>C (p.Ser912=)
|
rs200901072
|
|
NM_000492.4(CFTR):c.2739T>C (p.Tyr913=)
|
rs149790377
|
|
NM_000492.4(CFTR):c.274-10C>G
|
rs397508425
|
|
NM_000492.4(CFTR):c.274-10C>T
|
|
|
NM_000492.4(CFTR):c.274-12C>T
|
|
|
NM_000492.4(CFTR):c.274-16T>C
|
|
|
NM_000492.4(CFTR):c.274-18G>A
|
|
|
NM_000492.4(CFTR):c.274-7526T>A
|
|
|
NM_000492.4(CFTR):c.274-7T>C
|
|
|
NM_000492.4(CFTR):c.274-8558G>A
|
rs1798697575
|
|
NM_000492.4(CFTR):c.274-8984C>T
|
|
|
NM_000492.4(CFTR):c.274-9C>A
|
|
|
NM_000492.4(CFTR):c.274-9C>G
|
rs575711764
|
|
NM_000492.4(CFTR):c.274-9C>T
|
|
|
NM_000492.4(CFTR):c.2745G>A (p.Val915=)
|
|
|
NM_000492.4(CFTR):c.2772C>T (p.Asp924=)
|
rs1562911610
|
|
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.2802T>C (p.Gly934=)
|
|
|
NM_000492.4(CFTR):c.2811G>T (p.Leu937=)
|
|
|
NM_000492.4(CFTR):c.2817T>C (p.His939=)
|
rs770410806
|
|
NM_000492.4(CFTR):c.2820T>C (p.Thr940=)
|
rs60887846
|
|
NM_000492.4(CFTR):c.2826C>T (p.Ile942=)
|
|
|
NM_000492.4(CFTR):c.282C>G (p.Thr94=)
|
|
|
NM_000492.4(CFTR):c.2832G>T (p.Val944=)
|
|
|
NM_000492.4(CFTR):c.2835G>T (p.Ser945=)
|
rs193922513
|
|
NM_000492.4(CFTR):c.2838A>G (p.Lys946=)
|
rs2116062142
|
|
NM_000492.4(CFTR):c.2842T>C (p.Leu948=)
|
rs2116062157
|
|
NM_000492.4(CFTR):c.2850C>T (p.His950=)
|
|
|
NM_000492.4(CFTR):c.2859A>G (p.Leu953=)
|
|
|
NM_000492.4(CFTR):c.285A>G (p.Lys95=)
|
rs1584784870
|
|
NM_000492.4(CFTR):c.2880T>C (p.Pro960=)
|
|
|
NM_000492.4(CFTR):c.2889C>T (p.Thr963=)
|
|
|
NM_000492.4(CFTR):c.288A>C (p.Ala96=)
|
|
|
NM_000492.4(CFTR):c.288A>G (p.Ala96=)
|
rs2116669907
|
|
NM_000492.4(CFTR):c.2895C>T (p.Asn965=)
|
|
|
NM_000492.4(CFTR):c.2899T>C (p.Leu967=)
|
rs1554391080
|
|
NM_000492.4(CFTR):c.2901G>A (p.Leu967=)
|
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
|
|
|
NM_000492.4(CFTR):c.2908+10T>C
|
rs2116062549
|
|
NM_000492.4(CFTR):c.2908+13del
|
|
|
NM_000492.4(CFTR):c.2908+14T>G
|
rs2116062569
|
|
NM_000492.4(CFTR):c.2908+14_2908+21dup
|
|
|
NM_000492.4(CFTR):c.2908+20A>G
|
|
|
NM_000492.4(CFTR):c.2908+8A>G
|
rs1792264028
|
|
NM_000492.4(CFTR):c.2908+8A>T
|
rs1792264028
|
|
NM_000492.4(CFTR):c.2909-10T>C
|
|
|
NM_000492.4(CFTR):c.2909-11G>A
|
|
|
NM_000492.4(CFTR):c.2909-12del
|
rs2116069177
|
|
NM_000492.4(CFTR):c.2909-19G>C
|
|
|
NM_000492.4(CFTR):c.2909-7A>T
|
rs1792304646
|
|
NM_000492.4(CFTR):c.2913G>C (p.Gly971=)
|
|
|
NM_000492.4(CFTR):c.2916T>C (p.Ile972=)
|
|
|
NM_000492.4(CFTR):c.2919T>A (p.Leu973=)
|
rs1453045670
|
|
NM_000492.4(CFTR):c.291A>G (p.Val97=)
|
|
|
NM_000492.4(CFTR):c.2922T>C (p.Asn974=)
|
|
|
NM_000492.4(CFTR):c.2925A>G (p.Arg975=)
|
|
|
NM_000492.4(CFTR):c.2934A>G (p.Lys978=)
|
rs2116069501
|
|
NM_000492.4(CFTR):c.2937T>C (p.Asp979=)
|
rs1792305947
|
|
NM_000492.4(CFTR):c.2955C>T (p.Asp985=)
|
|
|
NM_000492.4(CFTR):c.2970C>T (p.Thr990=)
|
|
|
NM_000492.4(CFTR):c.2979C>T (p.Asp993=)
|
rs2116069838
|
|
NM_000492.4(CFTR):c.297T>G (p.Pro99=)
|
rs2116669955
|
|
NM_000492.4(CFTR):c.2982C>T (p.Phe994=)
|
|
|
NM_000492.4(CFTR):c.2988+10A>C
|
rs2116069977
|
|
NM_000492.4(CFTR):c.2988+16T>A
|
|
|
NM_000492.4(CFTR):c.2988+19C>T
|
|
|
NM_000492.4(CFTR):c.2988+20G>T
|
|
|
NM_000492.4(CFTR):c.2988+9A>T
|
|
|
NM_000492.4(CFTR):c.300C>T (p.Leu100=)
|
rs1206224160
|
|
NM_000492.4(CFTR):c.303A>G (p.Leu101=)
|
|
|
NM_000492.4(CFTR):c.304C>T (p.Leu102=)
|
rs1798849790
|
|
NM_000492.4(CFTR):c.306G>T (p.Leu102=)
|
|
|
NM_000492.4(CFTR):c.309A>G (p.Gly103=)
|
|
|
NM_000492.4(CFTR):c.30C>T (p.Ser10=)
|
rs1369001389
|
|
NM_000492.4(CFTR):c.312A>G (p.Arg104=)
|
rs2116670032
|
|
NM_000492.4(CFTR):c.321T>A (p.Ala107=)
|
rs778204477
|
|
NM_000492.4(CFTR):c.321T>G (p.Ala107=)
|
|
|
NM_000492.4(CFTR):c.327T>C (p.Tyr109=)
|
|
|
NM_000492.4(CFTR):c.330C>T (p.Asp110=)
|
|
|
NM_000492.4(CFTR):c.3368-13del
|
|
|
NM_000492.4(CFTR):c.3368-14T>C
|
|
|
NM_000492.4(CFTR):c.3368-17C>G
|
|
|
NM_000492.4(CFTR):c.3368-17C>T
|
|
|
NM_000492.4(CFTR):c.3368-19G>A
|
rs374104839
|
|
NM_000492.4(CFTR):c.3368-4A>G
|
rs748811222
|
|
NM_000492.4(CFTR):c.3368-581G>A
|
|
|
NM_000492.4(CFTR):c.3372A>G (p.Glu1124=)
|
|
|
NM_000492.4(CFTR):c.3375A>C (p.Gly1125=)
|
rs751140170
|
|
NM_000492.4(CFTR):c.3399G>A (p.Leu1133=)
|
rs1792456177
|
|
NM_000492.4(CFTR):c.3403T>C (p.Leu1135=)
|
|
|
NM_000492.4(CFTR):c.3405A>G (p.Leu1135=)
|
|
|
NM_000492.4(CFTR):c.3408C>T (p.Ala1136=)
|
|
|
NM_000492.4(CFTR):c.3423T>C (p.Ser1141=)
|
|
|
NM_000492.4(CFTR):c.3426A>G (p.Thr1142=)
|
rs2116096536
|
|
NM_000492.4(CFTR):c.3427T>C (p.Leu1143=)
|
rs768276513
|
|
NM_000492.4(CFTR):c.342G>A (p.Lys114=)
|
|
|
NM_000492.4(CFTR):c.3432G>A (p.Gln1144=)
|
|
|
NM_000492.4(CFTR):c.3447C>A (p.Ser1149=)
|
|
|
NM_000492.4(CFTR):c.345G>A (p.Glu115=)
|
rs2116670184
|
|
NM_000492.4(CFTR):c.3468+11T>C
|
|
|
NM_000492.4(CFTR):c.3468+12C>T
|
rs1415573737
|
|
NM_000492.4(CFTR):c.3468+13A>G
|
|
|
NM_000492.4(CFTR):c.3468+180A>G
|
|
|
NM_000492.4(CFTR):c.3469-10T>C
|
|
|
NM_000492.4(CFTR):c.3469-11T>G
|
|
|
NM_000492.4(CFTR):c.3469-14T>C
|
|
|
NM_000492.4(CFTR):c.3469-16_3469-15del
|
rs2116128700
|
|
NM_000492.4(CFTR):c.3469-4904G>A
|
|
|
NM_000492.4(CFTR):c.3469-4del
|
|
|
NM_000492.4(CFTR):c.3469-7A>G
|
|
|
NM_000492.4(CFTR):c.3469-9T>G
|
|
|
NM_000492.4(CFTR):c.3472C>A (p.Arg1158=)
|
rs79850223
|
|
NM_000492.4(CFTR):c.3474A>T (p.Arg1158=)
|
rs2116128804
|
|
NM_000492.4(CFTR):c.3480G>A (p.Val1160=)
|
rs1298788637
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3504C>T (p.Asp1168=)
|
|
|
NM_000492.4(CFTR):c.3513A>C (p.Thr1171=)
|
|
|
NM_000492.4(CFTR):c.351C>T (p.Arg117=)
|
rs2116670233
|
|
NM_000492.4(CFTR):c.3528C>T (p.Thr1176=)
|
|
|
NM_000492.4(CFTR):c.3531G>A (p.Lys1177=)
|
|
|
NM_000492.4(CFTR):c.3543A>G (p.Pro1181=)
|
|
|
NM_000492.4(CFTR):c.3546C>T (p.Tyr1182=)
|
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.3555C>A (p.Gly1185=)
|
|
|
NM_000492.4(CFTR):c.3555C>T (p.Gly1185=)
|
rs2116129370
|
|
NM_000492.4(CFTR):c.3567A>G (p.Lys1189=)
|
|
|
NM_000492.4(CFTR):c.357C>A (p.Ile119=)
|
rs1264742569
|
|
NM_000492.4(CFTR):c.3588A>G (p.Ser1196=)
|
|
|
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.3615C>G (p.Pro1205=)
|
|
|
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.3636C>G (p.Val1212=)
|
|
|
NM_000492.4(CFTR):c.3648A>T (p.Thr1216=)
|
|
|
NM_000492.4(CFTR):c.3657C>T (p.Tyr1219=)
|
rs2116129887
|
|
NM_000492.4(CFTR):c.3666T>C (p.Gly1222=)
|
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
NM_000492.4(CFTR):c.3684G>A (p.Glu1228=)
|
|
|
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=)
|
rs139322772
|
|
NM_000492.4(CFTR):c.3690T>C (p.Ile1230=)
|
|
|
NM_000492.4(CFTR):c.3699A>G (p.Ser1233=)
|
|
|
NM_000492.4(CFTR):c.3711C>G (p.Gly1237=)
|
|
|
NM_000492.4(CFTR):c.3717+11A>T
|
|
|
NM_000492.4(CFTR):c.3717+13C>T
|
|
|
NM_000492.4(CFTR):c.3717+14A>G
|
|
|
NM_000492.4(CFTR):c.3717+16T>G
|
rs749483814
|
|
NM_000492.4(CFTR):c.3717+40A>T
|
|
|
NM_000492.4(CFTR):c.3718-14C>T
|
|
|
NM_000492.4(CFTR):c.3718-15A>C
|
|
|
NM_000492.4(CFTR):c.3718-18A>G
|
|
|
NM_000492.4(CFTR):c.3718-24G>T
|
rs374013084
|
|
NM_000492.4(CFTR):c.3718-5034G>A
|
|
|
NM_000492.4(CFTR):c.3718-7104A>T
|
|
|
NM_000492.4(CFTR):c.3718-917T>C
|
|
|
NM_000492.4(CFTR):c.3718-9A>T
|
|
|
NM_000492.4(CFTR):c.3726C>G (p.Leu1242=)
|
rs758818517
|
|
NM_000492.4(CFTR):c.3726C>T (p.Leu1242=)
|
rs758818517
|
|
NM_000492.4(CFTR):c.3727T>C (p.Leu1243=)
|
rs1392953776
|
|
NM_000492.4(CFTR):c.3735A>G (p.Arg1245=)
|
|
|
NM_000492.4(CFTR):c.3738T>C (p.Thr1246=)
|
|
|
NM_000492.4(CFTR):c.3741A>G (p.Gly1247=)
|
|
|
NM_000492.4(CFTR):c.3741A>T (p.Gly1247=)
|
rs1792931608
|
|
NM_000492.4(CFTR):c.3744A>G (p.Ser1248=)
|
|
|
NM_000492.4(CFTR):c.3747G>A (p.Gly1249=)
|
rs794727373
|
|
NM_000492.4(CFTR):c.3756T>C (p.Thr1252=)
|
|
|
NM_000492.4(CFTR):c.3762A>G (p.Leu1254=)
|
|
|
NM_000492.4(CFTR):c.3765A>G (p.Ser1255=)
|
|
|
NM_000492.4(CFTR):c.3772T>C (p.Leu1258=)
|
rs202074317
|
|
NM_000492.4(CFTR):c.3780A>C (p.Leu1260=)
|
|
|
NM_000492.4(CFTR):c.3783G>C (p.Leu1261=)
|
rs771812900
|
|
NM_000492.4(CFTR):c.378C>T (p.Gly126=)
|
|
|
NM_000492.4(CFTR):c.3792A>G (p.Glu1264=)
|
|
|
NM_000492.4(CFTR):c.3798A>G (p.Glu1266=)
|
|
|
NM_000492.4(CFTR):c.379T>C (p.Leu127=)
|
rs2116670348
|
|
NM_000492.4(CFTR):c.3801C>A (p.Ile1267=)
|
|
|
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=)
|
rs1800129
|
|
NM_000492.4(CFTR):c.3810T>C (p.Asp1270=)
|
|
|
NM_000492.4(CFTR):c.3816G>A (p.Val1272=)
|
|
|
NM_000492.4(CFTR):c.3819T>G (p.Ser1273=)
|
|
|
NM_000492.4(CFTR):c.381A>G (p.Leu127=)
|
|
|
NM_000492.4(CFTR):c.3828A>T (p.Ser1276=)
|
|
|
NM_000492.4(CFTR):c.3840A>G (p.Gln1280=)
|
|
|
NM_000492.4(CFTR):c.3849G>A (p.Arg1283=)
|
|
|
NM_000492.4(CFTR):c.384C>T (p.Cys128=)
|
rs1388235792
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3855C>G (p.Ala1285=)
|
|
|
NM_000492.4(CFTR):c.3873+10A>G
|
rs1584837299
|
|
NM_000492.4(CFTR):c.3873+18G>A
|
|
|
NM_000492.4(CFTR):c.3873+20C>T
|
|
|
NM_000492.4(CFTR):c.3873+33A>G
|
rs397508622
|
|
NM_000492.4(CFTR):c.3873+4987A>T
|
|
|
NM_000492.4(CFTR):c.3874-14_3874-10del
|
|
|
NM_000492.4(CFTR):c.3874-19C>A
|
|
|
NM_000492.4(CFTR):c.3874-26dup
|
rs1554396371
|
|
NM_000492.4(CFTR):c.3874-27TTC[2]
|
rs397508623
|
|
NM_000492.4(CFTR):c.3874-4A>C
|
rs201381687
|
|
NM_000492.4(CFTR):c.387T>C (p.Leu129=)
|
|
|
NM_000492.4(CFTR):c.3900T>C (p.Phe1300=)
|
|
|
NM_000492.4(CFTR):c.3909C>T (p.Asn1303=)
|
|
|
NM_000492.4(CFTR):c.390C>G (p.Leu130=)
|
rs1411911535
|
|
NM_000492.4(CFTR):c.3910T>C (p.Leu1304=)
|
rs1478450897
|
|
NM_000492.4(CFTR):c.3918C>T (p.Pro1306=)
|
rs1800132
|
|
NM_000492.4(CFTR):c.3945A>C (p.Ile1315=)
|
|
|
NM_000492.4(CFTR):c.3954T>G (p.Val1318=)
|
|
|
NM_000492.4(CFTR):c.3960T>C (p.Asp1320=)
|
rs2116195757
|
|
NM_000492.4(CFTR):c.3963+15T>C
|
rs1269502695
|
|
NM_000492.4(CFTR):c.3963+19A>G
|
|
|
NM_000492.4(CFTR):c.3963+20T>G
|
|
|
NM_000492.4(CFTR):c.3964-17A>G
|
|
|
NM_000492.4(CFTR):c.3964-18T>C
|
|
|
NM_000492.4(CFTR):c.3964-20A>C
|
|
|
NM_000492.4(CFTR):c.3964-7A>T
|
rs2116220618
|
|
NM_000492.4(CFTR):c.3964-9T>A
|
rs1562928845
|
|
NM_000492.4(CFTR):c.3964-9T>C
|
|
|
NM_000492.4(CFTR):c.3966T>A (p.Val1322=)
|
|
|
NM_000492.4(CFTR):c.396T>C (p.Ile132=)
|
|
|
NM_000492.4(CFTR):c.3972C>G (p.Leu1324=)
|
|
|
NM_000492.4(CFTR):c.3972C>T (p.Leu1324=)
|
|
|
NM_000492.4(CFTR):c.3973A>C (p.Arg1325=)
|
rs1231511097
|
|
NM_000492.4(CFTR):c.3978T>C (p.Ser1326=)
|
|
|
NM_000492.4(CFTR):c.3981G>A (p.Val1327=)
|
rs2116220727
|
|
NM_000492.4(CFTR):c.3996T>C (p.Pro1332=)
|
rs2116220796
|
|
NM_000492.4(CFTR):c.39C>T (p.Ser13=)
|
|
|
NM_000492.4(CFTR):c.4008C>T (p.Asp1336=)
|
|
|
NM_000492.4(CFTR):c.400A>C (p.Arg134=)
|
|
|
NM_000492.4(CFTR):c.4011T>C (p.Phe1337=)
|
|
|
NM_000492.4(CFTR):c.4020G>A (p.Val1340=)
|
|
|
NM_000492.4(CFTR):c.4026G>A (p.Gly1342=)
|
|
|
NM_000492.4(CFTR):c.4026G>C (p.Gly1342=)
|
rs1584848821
|
|
NM_000492.4(CFTR):c.4026G>T (p.Gly1342=)
|
|
|
NM_000492.4(CFTR):c.402G>A (p.Arg134=)
|
|
|
NM_000492.4(CFTR):c.4035C>A (p.Val1345=)
|
rs2116220979
|
|
NM_000492.4(CFTR):c.4044T>C (p.His1348=)
|
|
|
NM_000492.4(CFTR):c.4047C>A (p.Gly1349=)
|
|
|
NM_000492.4(CFTR):c.4047C>T (p.Gly1349=)
|
rs2116221068
|
|
NM_000492.4(CFTR):c.4053G>A (p.Lys1351=)
|
|
|
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.405A>C (p.Thr135=)
|
|
|
NM_000492.4(CFTR):c.405A>G (p.Thr135=)
|
|
|
NM_000492.4(CFTR):c.4068G>A (p.Leu1356=)
|
|
|
NM_000492.4(CFTR):c.4077T>C (p.Ser1359=)
|
rs1449323479
|
|
NM_000492.4(CFTR):c.4077T>G (p.Ser1359=)
|
rs1449323479
|
|
NM_000492.4(CFTR):c.4083C>T (p.Leu1361=)
|
|
|
NM_000492.4(CFTR):c.408G>C (p.Leu136=)
|
|
|
NM_000492.4(CFTR):c.4098C>T (p.Ile1366=)
|
|
|
NM_000492.4(CFTR):c.4104G>A (p.Leu1368=)
|
|
|
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=)
|
rs1793345960
|
|
NM_000492.4(CFTR):c.411C>T (p.Leu137=)
|
|
|
NM_000492.4(CFTR):c.4126T>C (p.Leu1376=)
|
rs2116221499
|
|
NM_000492.4(CFTR):c.4136+12A>T
|
rs777853603
|
|
NM_000492.4(CFTR):c.4136+13T>C
|
|
|
NM_000492.4(CFTR):c.4136+14G>A
|
rs1389376517
|
|
NM_000492.4(CFTR):c.4136+14G>T
|
|
|
NM_000492.4(CFTR):c.4136+20T>A
|
|
|
NM_000492.4(CFTR):c.4137-12T>C
|
|
|
NM_000492.4(CFTR):c.4137-20G>T
|
|
|
NM_000492.4(CFTR):c.4137-4C>T
|
rs766178879
|
|
NM_000492.4(CFTR):c.4137-8T>C
|
|
|
NM_000492.4(CFTR):c.4140A>T (p.Thr1380=)
|
rs2116222559
|
|
NM_000492.4(CFTR):c.4152T>C (p.Ile1384=)
|
|
|
NM_000492.4(CFTR):c.4161T>C (p.Thr1387=)
|
|
|
NM_000492.4(CFTR):c.4164A>G (p.Leu1388=)
|
|
|
NM_000492.4(CFTR):c.4173A>T (p.Ala1391=)
|
|
|
NM_000492.4(CFTR):c.4188A>G (p.Thr1396=)
|
rs1322987429
|
|
NM_000492.4(CFTR):c.4191A>T (p.Val1397=)
|
rs2116222773
|
|
NM_000492.4(CFTR):c.4194T>C (p.Ile1398=)
|
rs2116222791
|
|
NM_000492.4(CFTR):c.4197C>T (p.Leu1399=)
|
rs79688066
|
|
NM_000492.4(CFTR):c.4218A>G (p.Ala1406=)
|
|
|
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=)
|
rs1793360215
|
|
NM_000492.4(CFTR):c.4233A>G (p.Gln1411=)
|
|
|
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=)
|
rs541737583
|
|
NM_000492.4(CFTR):c.423C>T (p.Ala141=)
|
rs1584785096
|
|
NM_000492.4(CFTR):c.4242+19A>C
|
rs1554397608
|
|
NM_000492.4(CFTR):c.4242+20C>T
|
rs1229413013
|
|
NM_000492.4(CFTR):c.4242+7C>T
|
rs1793361429
|
|
NM_000492.4(CFTR):c.432C>T (p.Gly144=)
|
rs1431645851
|
|
NM_000492.4(CFTR):c.441C>T (p.His147=)
|
|
|
NM_000492.4(CFTR):c.453G>A (p.Gln151=)
|
|
|
NM_000492.4(CFTR):c.45T>G (p.Leu15=)
|
rs1212474322
|
|
NM_000492.4(CFTR):c.480T>C (p.Ile160=)
|
|
|
NM_000492.4(CFTR):c.489+10C>G
|
rs1447914513
|
|
NM_000492.4(CFTR):c.489+11C>T
|
|
|
NM_000492.4(CFTR):c.489+87_489+88dup
|
rs1554379931
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
NM_000492.4(CFTR):c.490-13A>G
|
|
|
NM_000492.4(CFTR):c.490-14C>A
|
|
|
NM_000492.4(CFTR):c.490-15C>T
|
rs2157735
|
|
NM_000492.4(CFTR):c.490-17T>G
|
rs2116674831
|
|
NM_000492.4(CFTR):c.490-26del
|
rs781120531
|
|
NM_000492.4(CFTR):c.490-4T>G
|
|
|
NM_000492.4(CFTR):c.490-8T>C
|
|
|
NM_000492.4(CFTR):c.490-8T>G
|
|
|
NM_000492.4(CFTR):c.490-9T>A
|
rs2116674841
|
|
NM_000492.4(CFTR):c.492T>A (p.Thr164=)
|
|
|
NM_000492.4(CFTR):c.492T>C (p.Thr164=)
|
|
|
NM_000492.4(CFTR):c.498G>A (p.Lys166=)
|
|
|
NM_000492.4(CFTR):c.499C>T (p.Leu167=)
|
|
|
NM_000492.4(CFTR):c.504A>G (p.Ser168=)
|
|
|
NM_000492.4(CFTR):c.516A>G (p.Leu172=)
|
|
|
NM_000492.4(CFTR):c.525A>T (p.Ile175=)
|
rs2116674963
|
|
NM_000492.4(CFTR):c.528T>C (p.Ser176=)
|
rs1798911676
|
|
NM_000492.4(CFTR):c.53+10T>C
|
rs2116604777
|
|
NM_000492.4(CFTR):c.53+11G>A
|
|
|
NM_000492.4(CFTR):c.53+12G>A
|
|
|
NM_000492.4(CFTR):c.53+13C>A
|
|
|
NM_000492.4(CFTR):c.53+14C>T
|
|
|
NM_000492.4(CFTR):c.53+16A>G
|
|
|
NM_000492.4(CFTR):c.53+17C>A
|
rs1797979411
|
|
NM_000492.4(CFTR):c.53+18C>A
|
|
|
NM_000492.4(CFTR):c.53+19G>T
|
|
|
NM_000492.4(CFTR):c.53+3348G>A
|
|
|
NM_000492.4(CFTR):c.53+8G>A
|
rs1584764672
|
|
NM_000492.4(CFTR):c.53+9G>T
|
rs745414764
|
|
NM_000492.4(CFTR):c.54-11C>T
|
|
|
NM_000492.4(CFTR):c.54-11_54-8del
|
rs750763328
|
|
NM_000492.4(CFTR):c.54-13del
|
|
|
NM_000492.4(CFTR):c.54-15_54-13del
|
|
|
NM_000492.4(CFTR):c.54-4T>G
|
rs2116635058
|
|
NM_000492.4(CFTR):c.54-8T>C
|
rs778197563
|
|
NM_000492.4(CFTR):c.54-9T>C
|
rs1584774278
|
|
NM_000492.4(CFTR):c.540T>G (p.Leu180=)
|
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
NM_000492.4(CFTR):c.555C>T (p.Ser185=)
|
|
|
NM_000492.4(CFTR):c.561C>T (p.Asn187=)
|
rs397508754
|
|
NM_000492.4(CFTR):c.562C>T (p.Leu188=)
|
|
|
NM_000492.4(CFTR):c.567C>T (p.Asn189=)
|
rs397508755
|
|
NM_000492.4(CFTR):c.579+10T>C
|
|
|
NM_000492.4(CFTR):c.579+11A>G
|
|
|
NM_000492.4(CFTR):c.579+16T>C
|
|
|
NM_000492.4(CFTR):c.579+20A>G
|
|
|
NM_000492.4(CFTR):c.579+8C>A
|
|
|
NM_000492.4(CFTR):c.579+8C>G
|
|
|
NM_000492.4(CFTR):c.580-14C>A
|
|
|
NM_000492.4(CFTR):c.580-15G>T
|
|
|
NM_000492.4(CFTR):c.580-18T>C
|
|
|
NM_000492.4(CFTR):c.580-9A>G
|
rs1584786873
|
|
NM_000492.4(CFTR):c.582A>G (p.Gly194=)
|
rs561270322
|
|
NM_000492.4(CFTR):c.582A>T (p.Gly194=)
|
|
|
NM_000492.4(CFTR):c.585T>C (p.Leu195=)
|
|
|
NM_000492.4(CFTR):c.594A>C (p.Ala198=)
|
rs1481956057
|
|
NM_000492.4(CFTR):c.600C>T (p.Phe200=)
|
rs753492211
|
|
NM_000492.4(CFTR):c.603G>A (p.Val201=)
|
|
|
NM_000492.4(CFTR):c.609C>A (p.Ile203=)
|
|
|
NM_000492.4(CFTR):c.60C>A (p.Thr20=)
|
rs534609552
|
|
NM_000492.4(CFTR):c.60C>T (p.Thr20=)
|
|
|
NM_000492.4(CFTR):c.618G>A (p.Leu206=)
|
|
|
NM_000492.4(CFTR):c.621A>G (p.Gln207=)
|
|
|
NM_000492.4(CFTR):c.630C>A (p.Leu210=)
|
|
|
NM_000492.4(CFTR):c.630C>T (p.Leu210=)
|
rs1584786975
|
|
NM_000492.4(CFTR):c.633C>T (p.Leu211=)
|
rs2116676523
|
|
NM_000492.4(CFTR):c.639G>A (p.Gly213=)
|
|
|
NM_000492.4(CFTR):c.63A>G (p.Arg21=)
|
rs1356545960
|
|
NM_000492.4(CFTR):c.645C>T (p.Ile215=)
|
|
|
NM_000492.4(CFTR):c.651G>A (p.Glu217=)
|
rs1422913967
|
|
NM_000492.4(CFTR):c.652T>C (p.Leu218=)
|
rs1798932836
|
|
NM_000492.4(CFTR):c.655T>C (p.Leu219=)
|
|
|
NM_000492.4(CFTR):c.657A>G (p.Leu219=)
|
rs1798933085
|
|
NM_000492.4(CFTR):c.663G>T (p.Ala221=)
|
|
|
NM_000492.4(CFTR):c.669C>G (p.Ala223=)
|
rs2116676667
|
|
NM_000492.4(CFTR):c.672C>T (p.Phe224=)
|
|
|
NM_000492.4(CFTR):c.675T>C (p.Cys225=)
|
|
|
NM_000492.4(CFTR):c.678A>T (p.Gly226=)
|
rs1584787037
|
|
NM_000492.4(CFTR):c.684T>C (p.Gly228=)
|
|
|
NM_000492.4(CFTR):c.688C>T (p.Leu230=)
|
rs201410793
|
|
NM_000492.4(CFTR):c.696C>A (p.Val232=)
|
rs2116676736
|
|
NM_000492.4(CFTR):c.696C>T (p.Val232=)
|
|
|
NM_000492.4(CFTR):c.705T>C (p.Leu235=)
|
|
|
NM_000492.4(CFTR):c.705T>G (p.Leu235=)
|
rs762380161
|
|
NM_000492.4(CFTR):c.717G>A (p.Gly239=)
|
|
|
NM_000492.4(CFTR):c.717G>T (p.Gly239=)
|
rs764661797
|
|
NM_000492.4(CFTR):c.718C>T (p.Leu240=)
|
|
|
NM_000492.4(CFTR):c.723G>A (p.Gly241=)
|
|
|
NM_000492.4(CFTR):c.72G>A (p.Leu24=)
|
|
|
NM_000492.4(CFTR):c.743+11A>G
|
|
|
NM_000492.4(CFTR):c.743+11A>T
|
|
|
NM_000492.4(CFTR):c.743+16C>G
|
|
|
NM_000492.4(CFTR):c.743+554A>G
|
|
|
NM_000492.4(CFTR):c.743+8C>T
|
|
|
NM_000492.4(CFTR):c.743+9C>G
|
|
|
NM_000492.4(CFTR):c.744-33GATT[8]
|
rs1805171
|
|
NM_000492.4(CFTR):c.744-8A>C
|
rs2116678470
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NM_000492.4(CFTR):c.744A>G (p.Arg248=)
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NM_000492.4(CFTR):c.756T>C (p.Ala252=)
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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.768T>C (p.Ser256=)
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rs2116678553
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NM_000492.4(CFTR):c.774A>G (p.Arg258=)
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rs1798960814
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NM_000492.4(CFTR):c.780G>A (p.Val260=)
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NM_000492.4(CFTR):c.780G>C (p.Val260=)
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NM_000492.4(CFTR):c.789A>G (p.Ser263=)
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NM_000492.4(CFTR):c.789A>T (p.Ser263=)
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rs1484039409
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NM_000492.4(CFTR):c.798T>A (p.Ile266=)
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rs2116678632
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NM_000492.4(CFTR):c.807C>A (p.Ile269=)
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NM_000492.4(CFTR):c.807C>T (p.Ile269=)
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NM_000492.4(CFTR):c.813T>G (p.Ser271=)
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rs1060504846
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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=)
|
rs2116678695
|
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NM_000492.4(CFTR):c.825C>T (p.Tyr275=)
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NM_000492.4(CFTR):c.828C>T (p.Cys276=)
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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.867A>G (p.Arg289=)
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rs1798963965
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NM_000492.4(CFTR):c.869+11C>A
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NM_000492.4(CFTR):c.869+7T>A
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NM_000492.4(CFTR):c.869+7T>C
|
rs2116678864
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NM_000492.4(CFTR):c.869+8G>A
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rs773933167
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NM_000492.4(CFTR):c.869+8G>C
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rs773933167
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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.870-1111A>C
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NM_000492.4(CFTR):c.870-1113G>C
|
rs1799002964
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NM_000492.4(CFTR):c.870-12T>G
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NM_000492.4(CFTR):c.870-13T>C
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NM_000492.4(CFTR):c.870-178T>A
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NM_000492.4(CFTR):c.870-4A>G
|
rs755173693
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NM_000492.4(CFTR):c.870-6T>C
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NM_000492.4(CFTR):c.870-8T>C
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NM_000492.4(CFTR):c.870-9T>C
|
rs2116683428
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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.882A>G (p.Lys294=)
|
rs2116683549
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NM_000492.4(CFTR):c.885G>T (p.Leu295=)
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NM_000492.4(CFTR):c.891G>A (p.Arg297=)
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NM_000492.4(CFTR):c.894G>A (p.Lys298=)
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NM_000492.4(CFTR):c.900C>T (p.Ala300=)
|
rs146652541
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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.912C>T (p.Tyr304=)
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NM_000492.4(CFTR):c.921C>T (p.Ser307=)
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NM_000492.4(CFTR):c.927C>A (p.Ala309=)
|
rs1800084
|
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NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
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NM_000492.4(CFTR):c.930C>T (p.Phe310=)
|
rs1230103075
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NM_000492.4(CFTR):c.93C>T (p.Arg31=)
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NM_000492.4(CFTR):c.954G>A (p.Val318=)
|
rs766189605
|
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NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
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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.978A>T (p.Ala326=)
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NM_000492.4(CFTR):c.981A>T (p.Leu327=)
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NM_000492.4(CFTR):c.993C>T (p.Ile331=)
|
rs2116684106
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NM_000492.4(CFTR):c.996C>A (p.Ile332=)
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NM_000492.4(CFTR):c.996C>T (p.Ile332=)
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