NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
NM_000492.3(CFTR):c.-461A>G
|
rs185028612
|
0.00200
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_000492.4(CFTR):c.580-92T>A
|
rs117548166
|
0.00133
|
NM_000492.3(CFTR):c.-1043dup
|
rs574740041
|
0.00109
|
NM_000492.4(CFTR):c.3718-79T>C
|
rs397508597
|
0.00096
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_000492.4(CFTR):c.3139+101C>G
|
rs397508502
|
0.00077
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
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.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000492.3(CFTR):c.-448A>G
|
rs943663200
|
0.00041
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00036
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
NM_000492.4(CFTR):c.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.-4G>C
|
rs369326781
|
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.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000492.4(CFTR):c.1679+16T>C
|
rs397508262
|
0.00013
|
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.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.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
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.1679+18G>A
|
rs369294289
|
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.3289C>T (p.Arg1097Cys)
|
rs201591901
|
0.00006
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
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.4296C>T (p.Asn1432=)
|
rs761669740
|
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.1767-16T>C
|
rs200170245
|
0.00005
|
NM_000492.4(CFTR):c.2475C>T (p.Asn825=)
|
rs746961486
|
0.00005
|
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=)
|
rs1800116
|
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.1679+9C>G
|
rs775440240
|
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.3180A>G (p.Lys1060=)
|
rs142526976
|
0.00004
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
NM_000492.4(CFTR):c.3718-2476G>A
|
rs949635279
|
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.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.1585-19T>C
|
rs778457306
|
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.3177A>G (p.Leu1059=)
|
rs1800113
|
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.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.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
NM_000492.4(CFTR):c.3033A>G (p.Leu1011=)
|
rs773752573
|
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.3874-7G>A
|
rs776663932
|
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.1545T>C (p.Tyr515=)
|
rs747504631
|
0.00001
|
NM_000492.4(CFTR):c.1557C>T (p.Ser519=)
|
rs757736710
|
0.00001
|
NM_000492.4(CFTR):c.1585-7G>A
|
rs1367201083
|
0.00001
|
NM_000492.4(CFTR):c.1587C>T (p.Asp529=)
|
rs772895745
|
0.00001
|
NM_000492.4(CFTR):c.15T>C (p.Pro5=)
|
rs751475070
|
0.00001
|
NM_000492.4(CFTR):c.1632T>G (p.Gly544=)
|
rs767846505
|
0.00001
|
NM_000492.4(CFTR):c.1674A>G (p.Leu558=)
|
rs770896561
|
0.00001
|
NM_000492.4(CFTR):c.1679+34G>T
|
rs767901668
|
0.00001
|
NM_000492.4(CFTR):c.1680-981T>C
|
rs727502937
|
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.192G>A (p.Lys64=)
|
rs1325969557
|
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.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.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.2994A>G (p.Leu998=)
|
rs751537272
|
0.00001
|
NM_000492.4(CFTR):c.300C>G (p.Leu100=)
|
rs1206224160
|
0.00001
|
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=)
|
rs537934752
|
0.00001
|
NM_000492.4(CFTR):c.3108C>T (p.Thr1036=)
|
rs773627677
|
0.00001
|
NM_000492.4(CFTR):c.3139+11G>C
|
rs555185521
|
0.00001
|
NM_000492.4(CFTR):c.3139+19G>A
|
rs751210436
|
0.00001
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
NM_000492.4(CFTR):c.3282A>G (p.Ser1094=)
|
rs757727766
|
0.00001
|
NM_000492.4(CFTR):c.3288G>A (p.Leu1096=)
|
rs936512397
|
0.00001
|
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=)
|
rs746620950
|
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.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.4320C>T (p.Ala1440=)
|
rs1292837576
|
0.00001
|
NM_000492.4(CFTR):c.4336A>C (p.Arg1446=)
|
rs985995406
|
0.00001
|
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)
|
rs983279303
|
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.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.-234T>A
|
rs982968807
|
|
NM_000492.3(CFTR):c.-887_-885del
|
rs397507564
|
|
NM_000492.4(CFTR):c.-11C>T
|
rs1797976181
|
|
NM_000492.4(CFTR):c.1017C>T (p.Thr339=)
|
rs1359708278
|
|
NM_000492.4(CFTR):c.1032T>C (p.Ile344=)
|
|
|
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.1059A>G (p.Gln353=)
|
rs1800087
|
|
NM_000492.4(CFTR):c.105A>C (p.Ser35=)
|
rs2116635193
|
|
NM_000492.4(CFTR):c.1074A>G (p.Val358=)
|
rs200708728
|
|
NM_000492.4(CFTR):c.1080A>G (p.Thr360=)
|
rs201246833
|
|
NM_000492.4(CFTR):c.1092T>A (p.Ser364=)
|
rs1584789482
|
|
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.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.1155T>C (p.Tyr385=)
|
|
|
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.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_1210-9delinsG
|
rs2115902456
|
|
NM_000492.4(CFTR):c.1210-14_1210-13insTT
|
|
|
NM_000492.4(CFTR):c.1210-17G>T
|
|
|
NM_000492.4(CFTR):c.1210-19G>A
|
|
|
NM_000492.4(CFTR):c.1210-30T>G
|
|
|
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.1254T>C (p.Asn418=)
|
rs62469440
|
|
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.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.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.1341G>A (p.Lys447=)
|
|
|
NM_000492.4(CFTR):c.1353A>G (p.Gly451=)
|
rs1220983447
|
|
NM_000492.4(CFTR):c.135T>A (p.Ser45=)
|
|
|
NM_000492.4(CFTR):c.135T>G (p.Ser45=)
|
|
|
NM_000492.4(CFTR):c.1362G>A (p.Leu454=)
|
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
NM_000492.4(CFTR):c.1371T>G (p.Ala457=)
|
|
|
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+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.1393-6T>C
|
rs966524603
|
|
NM_000492.4(CFTR):c.1393-8A>T
|
rs2115937364
|
|
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.1437G>A (p.Glu479=)
|
rs754152822
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
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.147A>C (p.Leu49=)
|
|
|
NM_000492.4(CFTR):c.1485C>G (p.Ser495=)
|
|
|
NM_000492.4(CFTR):c.1503C>T (p.Thr501=)
|
|
|
NM_000492.4(CFTR):c.150T>G (p.Ser50=)
|
rs2116635296
|
|
NM_000492.4(CFTR):c.1515T>C (p.Asn505=)
|
|
|
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.1560C>T (p.Val520=)
|
rs768151081
|
|
NM_000492.4(CFTR):c.1576C>T (p.Leu526=)
|
|
|
NM_000492.4(CFTR):c.1584+10T>G
|
|
|
NM_000492.4(CFTR):c.1584+15G>T
|
|
|
NM_000492.4(CFTR):c.1584+18A>C
|
|
|
NM_000492.4(CFTR):c.1584+9C>T
|
rs2115939119
|
|
NM_000492.4(CFTR):c.1585-5A>C
|
|
|
NM_000492.4(CFTR):c.1585-7G>C
|
rs1367201083
|
|
NM_000492.4(CFTR):c.1585-7G>T
|
rs1367201083
|
|
NM_000492.4(CFTR):c.159G>A (p.Leu53=)
|
rs2116635315
|
|
NM_000492.4(CFTR):c.1602A>G (p.Ala534=)
|
rs1584810152
|
|
NM_000492.4(CFTR):c.1605G>A (p.Glu535=)
|
|
|
NM_000492.4(CFTR):c.1620T>C (p.Val540=)
|
rs1791965009
|
|
NM_000492.4(CFTR):c.1626A>G (p.Gly542=)
|
rs2116017741
|
|
NM_000492.4(CFTR):c.1629A>G (p.Glu543=)
|
|
|
NM_000492.4(CFTR):c.1638C>T (p.Ile546=)
|
rs1476532238
|
|
NM_000492.4(CFTR):c.164+10T>A
|
rs1310634696
|
|
NM_000492.4(CFTR):c.164+10T>C
|
rs1310634696
|
|
NM_000492.4(CFTR):c.164+14C>G
|
|
|
NM_000492.4(CFTR):c.164+15A>G
|
|
|
NM_000492.4(CFTR):c.164+16T>C
|
|
|
NM_000492.4(CFTR):c.164+18G>A
|
|
|
NM_000492.4(CFTR):c.164+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.1647T>C (p.Ser549=)
|
rs121909005
|
|
NM_000492.4(CFTR):c.165-12A>C
|
|
|
NM_000492.4(CFTR):c.165-12dup
|
rs2116641261
|
|
NM_000492.4(CFTR):c.165-17T>C
|
|
|
NM_000492.4(CFTR):c.165-4G>A
|
rs2116641277
|
|
NM_000492.4(CFTR):c.165-4G>T
|
|
|
NM_000492.4(CFTR):c.165-50A>G
|
rs369949496
|
|
NM_000492.4(CFTR):c.165-7T>G
|
rs2116641270
|
|
NM_000492.4(CFTR):c.165-9C>A
|
|
|
NM_000492.4(CFTR):c.1668T>C (p.Ile556=)
|
rs1232726281
|
|
NM_000492.4(CFTR):c.1679+11A>G
|
|
|
NM_000492.4(CFTR):c.1679+12_1679+15del
|
|
|
NM_000492.4(CFTR):c.1679+14T>C
|
|
|
NM_000492.4(CFTR):c.1679+16T>A
|
|
|
NM_000492.4(CFTR):c.1679+17T>C
|
|
|
NM_000492.4(CFTR):c.1679+17T>G
|
|
|
NM_000492.4(CFTR):c.1679+18G>C
|
|
|
NM_000492.4(CFTR):c.1679+18G>T
|
rs369294289
|
|
NM_000492.4(CFTR):c.1679+19G>A
|
|
|
NM_000492.4(CFTR):c.1679+8A>G
|
rs769716650
|
|
NM_000492.4(CFTR):c.1679+9_1679+12del
|
|
|
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.168A>G (p.Glu56=)
|
|
|
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.1722T>A (p.Pro574=)
|
|
|
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+7T>A
|
|
|
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.1779A>G (p.Lys593=)
|
rs1217712466
|
|
NM_000492.4(CFTR):c.177A>G (p.Arg59=)
|
rs893977457
|
|
NM_000492.4(CFTR):c.1780C>T (p.Leu594=)
|
|
|
NM_000492.4(CFTR):c.1782G>T (p.Leu594=)
|
rs2116030062
|
|
NM_000492.4(CFTR):c.1804T>C (p.Leu602=)
|
rs1380798382
|
|
NM_000492.4(CFTR):c.180G>A (p.Glu60=)
|
|
|
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.189A>G (p.Ser63=)
|
|
|
NM_000492.4(CFTR):c.1902A>G (p.Gln634=)
|
rs2116030586
|
|
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.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.2019A>G (p.Gly673=)
|
rs2116031424
|
|
NM_000492.4(CFTR):c.2022T>C (p.Asp674=)
|
rs1259091056
|
|
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.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.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.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>G (p.Thr717=)
|
rs2116032144
|
|
NM_000492.4(CFTR):c.2154C>T (p.Pro718=)
|
|
|
NM_000492.4(CFTR):c.216C>G (p.Ala72=)
|
|
|
NM_000492.4(CFTR):c.216C>T (p.Ala72=)
|
rs1033366496
|
|
NM_000492.4(CFTR):c.2172C>T (p.Ile724=)
|
rs368599862
|
|
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
|
|
|
NM_000492.4(CFTR):c.2181T>C (p.Asp727=)
|
rs1792043547
|
|
NM_000492.4(CFTR):c.2190G>A (p.Glu730=)
|
|
|
NM_000492.4(CFTR):c.2208G>A (p.Leu736=)
|
|
|
NM_000492.4(CFTR):c.2217A>G (p.Val739=)
|
|
|
NM_000492.4(CFTR):c.2226T>C (p.Ser742=)
|
rs2116032463
|
|
NM_000492.4(CFTR):c.2235A>G (p.Gly745=)
|
|
|
NM_000492.4(CFTR):c.2286G>A (p.Gln762=)
|
|
|
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.2301G>A (p.Gln767=)
|
rs1386366130
|
|
NM_000492.4(CFTR):c.2307C>G (p.Val769=)
|
rs1241371944
|
|
NM_000492.4(CFTR):c.2313C>T (p.Asn771=)
|
rs768301278
|
|
NM_000492.4(CFTR):c.231T>C (p.Phe77=)
|
rs2116641592
|
|
NM_000492.4(CFTR):c.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.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.2434T>C (p.Leu812=)
|
|
|
NM_000492.4(CFTR):c.2439T>C (p.Ser813=)
|
rs2116033726
|
|
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.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.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.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.2620-4C>A
|
rs1180219519
|
|
NM_000492.4(CFTR):c.2620-7A>G
|
rs1335322650
|
|
NM_000492.4(CFTR):c.2620-8C>T
|
|
|
NM_000492.4(CFTR):c.2620-9C>G
|
rs1239102386
|
|
NM_000492.4(CFTR):c.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.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.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
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.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+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>T (p.Thr910=)
|
|
|
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.274-7T>C
|
|
|
NM_000492.4(CFTR):c.274-9C>A
|
|
|
NM_000492.4(CFTR):c.274-9C>G
|
rs575711764
|
|
NM_000492.4(CFTR):c.274-9C>T
|
|
|
NM_000492.4(CFTR):c.2745G>A (p.Val915=)
|
|
|
NM_000492.4(CFTR):c.2772C>T (p.Asp924=)
|
rs1562911610
|
|
NM_000492.4(CFTR):c.2802T>C (p.Gly934=)
|
|
|
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.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.2859A>G (p.Leu953=)
|
|
|
NM_000492.4(CFTR):c.285A>G (p.Lys95=)
|
rs1584784870
|
|
NM_000492.4(CFTR):c.2889C>T (p.Thr963=)
|
|
|
NM_000492.4(CFTR):c.288A>G (p.Ala96=)
|
rs2116669907
|
|
NM_000492.4(CFTR):c.2895C>T (p.Asn965=)
|
|
|
NM_000492.4(CFTR):c.2899T>C (p.Leu967=)
|
rs1554391080
|
|
NM_000492.4(CFTR):c.2901G>A (p.Leu967=)
|
|
|
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.2909-12del
|
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.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.2989-6T>C
|
|
|
NM_000492.4(CFTR):c.2991G>A (p.Leu997=)
|
rs1800111
|
|
NM_000492.4(CFTR):c.3000T>C (p.Ile1000=)
|
|
|
NM_000492.4(CFTR):c.3003G>A (p.Val1001=)
|
|
|
NM_000492.4(CFTR):c.3003G>T (p.Val1001=)
|
rs1377312539
|
|
NM_000492.4(CFTR):c.3009A>C (p.Gly1003=)
|
|
|
NM_000492.4(CFTR):c.300C>T (p.Leu100=)
|
rs1206224160
|
|
NM_000492.4(CFTR):c.3027A>G (p.Ala1009=)
|
|
|
NM_000492.4(CFTR):c.3027A>T (p.Ala1009=)
|
|
|
NM_000492.4(CFTR):c.303A>G (p.Leu101=)
|
|
|
NM_000492.4(CFTR):c.3042C>T (p.Tyr1014=)
|
|
|
NM_000492.4(CFTR):c.3045C>T (p.Ile1015=)
|
|
|
NM_000492.4(CFTR):c.304C>T (p.Leu102=)
|
rs1798849790
|
|
NM_000492.4(CFTR):c.3060G>A (p.Val1020=)
|
rs1584821629
|
|
NM_000492.4(CFTR):c.306G>T (p.Leu102=)
|
|
|
NM_000492.4(CFTR):c.3075T>G (p.Ala1025=)
|
rs2116080954
|
|
NM_000492.4(CFTR):c.3081T>A (p.Ile1027=)
|
|
|
NM_000492.4(CFTR):c.3093A>G (p.Ala1031=)
|
|
|
NM_000492.4(CFTR):c.3093A>T (p.Ala1031=)
|
|
|
NM_000492.4(CFTR):c.30C>T (p.Ser10=)
|
rs1369001389
|
|
NM_000492.4(CFTR):c.3114G>A (p.Gln1038=)
|
rs2116081223
|
|
NM_000492.4(CFTR):c.3120C>T (p.Leu1040=)
|
|
|
NM_000492.4(CFTR):c.3129G>A (p.Leu1043=)
|
|
|
NM_000492.4(CFTR):c.312A>G (p.Arg104=)
|
rs2116670032
|
|
NM_000492.4(CFTR):c.3139+10T>C
|
|
|
NM_000492.4(CFTR):c.3139+17G>A
|
|
|
NM_000492.4(CFTR):c.3139+17G>T
|
|
|
NM_000492.4(CFTR):c.3139+42A>G
|
|
|
NM_000492.4(CFTR):c.3139+9G>T
|
rs2116081422
|
|
NM_000492.4(CFTR):c.3139+9del
|
rs749651092
|
|
NM_000492.4(CFTR):c.3140-16T>C
|
|
|
NM_000492.4(CFTR):c.3140-17A>G
|
rs1383455542
|
|
NM_000492.4(CFTR):c.3140-9A>G
|
rs1792386089
|
|
NM_000492.4(CFTR):c.3141C>G (p.Gly1047=)
|
|
|
NM_000492.4(CFTR):c.3159T>A (p.Thr1053=)
|
rs1792386675
|
|
NM_000492.4(CFTR):c.3162T>C (p.His1054=)
|
rs199990040
|
|
NM_000492.4(CFTR):c.3175T>C (p.Leu1059=)
|
|
|
NM_000492.4(CFTR):c.3183A>G (p.Gly1061=)
|
rs2116084312
|
|
NM_000492.4(CFTR):c.3184C>T (p.Leu1062=)
|
|
|
NM_000492.4(CFTR):c.3186A>G (p.Leu1062=)
|
|
|
NM_000492.4(CFTR):c.3210G>A (p.Arg1070=)
|
rs1792388976
|
|
NM_000492.4(CFTR):c.3213G>A (p.Gln1071=)
|
|
|
NM_000492.4(CFTR):c.3219C>T (p.Tyr1073=)
|
rs1792389293
|
|
NM_000492.4(CFTR):c.321T>A (p.Ala107=)
|
rs778204477
|
|
NM_000492.4(CFTR):c.3237C>T (p.His1079=)
|
rs2116084700
|
|
NM_000492.4(CFTR):c.3273G>A (p.Leu1091=)
|
|
|
NM_000492.4(CFTR):c.3279G>T (p.Leu1093=)
|
|
|
NM_000492.4(CFTR):c.327T>C (p.Tyr109=)
|
|
|
NM_000492.4(CFTR):c.3285A>G (p.Thr1095=)
|
|
|
NM_000492.4(CFTR):c.3288G>T (p.Leu1096=)
|
rs936512397
|
|
NM_000492.4(CFTR):c.3297C>T (p.Phe1099=)
|
|
|
NM_000492.4(CFTR):c.3318T>A (p.Ile1106=)
|
rs2116085302
|
|
NM_000492.4(CFTR):c.3324C>A (p.Val1108=)
|
rs2116085344
|
|
NM_000492.4(CFTR):c.3324C>T (p.Val1108=)
|
rs2116085344
|
|
NM_000492.4(CFTR):c.3327C>T (p.Ile1109=)
|
rs568020045
|
|
NM_000492.4(CFTR):c.3330C>T (p.Phe1110=)
|
rs1584822500
|
|
NM_000492.4(CFTR):c.3367+10A>G
|
|
|
NM_000492.4(CFTR):c.3367+10A>T
|
rs2116085669
|
|
NM_000492.4(CFTR):c.3367+18_3367+23del
|
|
|
NM_000492.4(CFTR):c.3367+19C>T
|
|
|
NM_000492.4(CFTR):c.3367+8G>A
|
rs2116085662
|
|
NM_000492.4(CFTR):c.3367+9A>G
|
|
|
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.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.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.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.3469-10T>C
|
|
|
NM_000492.4(CFTR):c.3469-14T>C
|
|
|
NM_000492.4(CFTR):c.3469-16_3469-15del
|
rs2116128700
|
|
NM_000492.4(CFTR):c.3469-4del
|
|
|
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.3504C>T (p.Asp1168=)
|
|
|
NM_000492.4(CFTR):c.351C>T (p.Arg117=)
|
rs2116670233
|
|
NM_000492.4(CFTR):c.3528C>T (p.Thr1176=)
|
|
|
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>C (p.Ser118=)
|
rs2116670246
|
|
NM_000492.4(CFTR):c.3555C>A (p.Gly1185=)
|
|
|
NM_000492.4(CFTR):c.3555C>T (p.Gly1185=)
|
rs2116129370
|
|
NM_000492.4(CFTR):c.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.3615C>G (p.Pro1205=)
|
|
|
NM_000492.4(CFTR):c.3621G>A (p.Gly1207=)
|
|
|
NM_000492.4(CFTR):c.3621G>T (p.Gly1207=)
|
|
|
NM_000492.4(CFTR):c.3657C>T (p.Tyr1219=)
|
rs2116129887
|
|
NM_000492.4(CFTR):c.3684G>A (p.Glu1228=)
|
|
|
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=)
|
rs139322772
|
|
NM_000492.4(CFTR):c.3699A>G (p.Ser1233=)
|
|
|
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.3718-2476G>T
|
rs949635279
|
|
NM_000492.4(CFTR):c.3718-2477C>A
|
rs75039782
|
|
NM_000492.4(CFTR):c.3718-24G>T
|
rs374013084
|
|
NM_000492.4(CFTR):c.3718-9A>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>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.3798A>G (p.Glu1266=)
|
|
|
NM_000492.4(CFTR):c.379T>C (p.Leu127=)
|
rs2116670348
|
|
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=)
|
rs1800129
|
|
NM_000492.4(CFTR):c.3810T>C (p.Asp1270=)
|
|
|
NM_000492.4(CFTR):c.3816G>A (p.Val1272=)
|
|
|
NM_000492.4(CFTR):c.381A>G (p.Leu127=)
|
|
|
NM_000492.4(CFTR):c.3828A>T (p.Ser1276=)
|
|
|
NM_000492.4(CFTR):c.3840A>G (p.Gln1280=)
|
|
|
NM_000492.4(CFTR):c.384C>T (p.Cys128=)
|
rs1388235792
|
|
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.3874-14_3874-10del
|
|
|
NM_000492.4(CFTR):c.3874-19C>A
|
|
|
NM_000492.4(CFTR):c.3874-27TTC[2]
|
rs397508623
|
|
NM_000492.4(CFTR):c.3874-4A>C
|
rs201381687
|
|
NM_000492.4(CFTR):c.3900T>C (p.Phe1300=)
|
|
|
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.3972C>G (p.Leu1324=)
|
|
|
NM_000492.4(CFTR):c.3973A>C (p.Arg1325=)
|
rs1231511097
|
|
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.4008C>T (p.Asp1336=)
|
|
|
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>T (p.Gly1349=)
|
rs2116221068
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
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.4104G>A (p.Leu1368=)
|
|
|
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=)
|
rs1793345960
|
|
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.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.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.4243-11C>T
|
|
|
NM_000492.4(CFTR):c.4243-15C>A
|
|
|
NM_000492.4(CFTR):c.4243-15C>T
|
|
|
NM_000492.4(CFTR):c.4243-16A>G
|
rs780125251
|
|
NM_000492.4(CFTR):c.4243-19C>G
|
rs2116226004
|
|
NM_000492.4(CFTR):c.4243-21_4243-18del
|
|
|
NM_000492.4(CFTR):c.4243-4C>G
|
|
|
NM_000492.4(CFTR):c.4243-7T>C
|
rs2116226050
|
|
NM_000492.4(CFTR):c.4243-7del
|
rs878854021
|
|
NM_000492.4(CFTR):c.4243-8T>C
|
rs2116226043
|
|
NM_000492.4(CFTR):c.4245C>T (p.Val1415=)
|
|
|
NM_000492.4(CFTR):c.4263G>A (p.Val1421=)
|
rs1793385225
|
|
NM_000492.4(CFTR):c.4266G>A (p.Arg1422=)
|
|
|
NM_000492.4(CFTR):c.4269G>A (p.Gln1423=)
|
rs2116226188
|
|
NM_000492.4(CFTR):c.4288C>T (p.Leu1430=)
|
|
|
NM_000492.4(CFTR):c.4291C>T (p.Leu1431=)
|
rs774296351
|
|
NM_000492.4(CFTR):c.4326C>T (p.Ser1442=)
|
rs753963572
|
|
NM_000492.4(CFTR):c.4329C>G (p.Pro1443=)
|
|
|
NM_000492.4(CFTR):c.4329C>T (p.Pro1443=)
|
|
|
NM_000492.4(CFTR):c.432C>T (p.Gly144=)
|
rs1431645851
|
|
NM_000492.4(CFTR):c.4332C>T (p.Ser1444=)
|
rs779359608
|
|
NM_000492.4(CFTR):c.4335C>T (p.Asp1445=)
|
|
|
NM_000492.4(CFTR):c.4338G>A (p.Arg1446=)
|
|
|
NM_000492.4(CFTR):c.4347C>G (p.Leu1449=)
|
|
|
NM_000492.4(CFTR):c.4347C>T (p.Leu1449=)
|
|
|
NM_000492.4(CFTR):c.4353C>T (p.Pro1451=)
|
rs1345439008
|
|
NM_000492.4(CFTR):c.4365A>G (p.Ser1455=)
|
|
|
NM_000492.4(CFTR):c.4371G>A (p.Lys1457=)
|
|
|
NM_000492.4(CFTR):c.4377G>A (p.Lys1459=)
|
rs1554397779
|
|
NM_000492.4(CFTR):c.4380T>C (p.Ser1460=)
|
|
|
NM_000492.4(CFTR):c.4410G>A (p.Glu1470=)
|
rs1466916972
|
|
NM_000492.4(CFTR):c.4422G>A (p.Glu1474=)
|
|
|
NM_000492.4(CFTR):c.4425G>A (p.Val1475=)
|
rs776922524
|
|
NM_000492.4(CFTR):c.4431T>C (p.Asp1477=)
|
rs765554812
|
|
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+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.490-4T>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.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+19G>T
|
|
|
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.561C>T (p.Asn187=)
|
rs397508754
|
|
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.618G>A (p.Leu206=)
|
|
|
NM_000492.4(CFTR):c.630C>A (p.Leu210=)
|
|
|
NM_000492.4(CFTR):c.633C>T (p.Leu211=)
|
rs2116676523
|
|
NM_000492.4(CFTR):c.639G>A (p.Gly213=)
|
|
|
NM_000492.4(CFTR):c.63A>G (p.Arg21=)
|
rs1356545960
|
|
NM_000492.4(CFTR):c.651G>A (p.Glu217=)
|
rs1422913967
|
|
NM_000492.4(CFTR):c.652T>C (p.Leu218=)
|
rs1798932836
|
|
NM_000492.4(CFTR):c.657A>G (p.Leu219=)
|
rs1798933085
|
|
NM_000492.4(CFTR):c.669C>G (p.Ala223=)
|
rs2116676667
|
|
NM_000492.4(CFTR):c.675T>C (p.Cys225=)
|
|
|
NM_000492.4(CFTR):c.678A>T (p.Gly226=)
|
rs1584787037
|
|
NM_000492.4(CFTR):c.684T>C (p.Gly228=)
|
|
|
NM_000492.4(CFTR):c.688C>T (p.Leu230=)
|
rs201410793
|
|
NM_000492.4(CFTR):c.696C>A (p.Val232=)
|
rs2116676736
|
|
NM_000492.4(CFTR):c.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>T
|
|
|
NM_000492.4(CFTR):c.743+16C>G
|
|
|
NM_000492.4(CFTR):c.743+8C>T
|
|
|
NM_000492.4(CFTR):c.743+9C>G
|
|
|
NM_000492.4(CFTR):c.744-8A>C
|
rs2116678470
|
|
NM_000492.4(CFTR):c.765C>T (p.Ile255=)
|
rs1202176665
|
|
NM_000492.4(CFTR):c.768T>C (p.Ser256=)
|
rs2116678553
|
|
NM_000492.4(CFTR):c.774A>G (p.Arg258=)
|
rs1798960814
|
|
NM_000492.4(CFTR):c.780G>A (p.Val260=)
|
|
|
NM_000492.4(CFTR):c.780G>C (p.Val260=)
|
|
|
NM_000492.4(CFTR):c.789A>T (p.Ser263=)
|
rs1484039409
|
|
NM_000492.4(CFTR):c.798T>A (p.Ile266=)
|
rs2116678632
|
|
NM_000492.4(CFTR):c.807C>A (p.Ile269=)
|
|
|
NM_000492.4(CFTR):c.813T>G (p.Ser271=)
|
rs1060504846
|
|
NM_000492.4(CFTR):c.819G>A (p.Lys273=)
|
|
|
NM_000492.4(CFTR):c.822A>G (p.Ala274=)
|
rs2116678695
|
|
NM_000492.4(CFTR):c.828C>T (p.Cys276=)
|
|
|
NM_000492.4(CFTR):c.846A>G (p.Glu282=)
|
|
|
NM_000492.4(CFTR):c.84C>T (p.Tyr28=)
|
|
|
NM_000492.4(CFTR):c.867A>G (p.Arg289=)
|
rs1798963965
|
|
NM_000492.4(CFTR):c.869+11C>A
|
|
|
NM_000492.4(CFTR):c.869+7T>A
|
|
|
NM_000492.4(CFTR):c.869+7T>C
|
rs2116678864
|
|
NM_000492.4(CFTR):c.869+8G>A
|
rs773933167
|
|
NM_000492.4(CFTR):c.869+8G>C
|
rs773933167
|
|
NM_000492.4(CFTR):c.869+9T>C
|
rs1798964448
|
|
NM_000492.4(CFTR):c.870-1111A>C
|
|
|
NM_000492.4(CFTR):c.870-1113G>C
|
rs1799002964
|
|
NM_000492.4(CFTR):c.870-12T>G
|
|
|
NM_000492.4(CFTR):c.870-13T>C
|
|
|
NM_000492.4(CFTR):c.870-4A>G
|
rs755173693
|
|
NM_000492.4(CFTR):c.870-6T>C
|
|
|
NM_000492.4(CFTR):c.870-8T>C
|
|
|
NM_000492.4(CFTR):c.870-9T>C
|
rs2116683428
|
|
NM_000492.4(CFTR):c.876A>G (p.Glu292=)
|
rs2116683514
|
|
NM_000492.4(CFTR):c.882A>G (p.Lys294=)
|
rs2116683549
|
|
NM_000492.4(CFTR):c.885G>T (p.Leu295=)
|
|
|
NM_000492.4(CFTR):c.894G>A (p.Lys298=)
|
|
|
NM_000492.4(CFTR):c.900C>T (p.Ala300=)
|
rs146652541
|
|
NM_000492.4(CFTR):c.906G>C (p.Val302=)
|
rs2116683646
|
|
NM_000492.4(CFTR):c.912C>T (p.Tyr304=)
|
|
|
NM_000492.4(CFTR):c.927C>A (p.Ala309=)
|
rs1800084
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
|
NM_000492.4(CFTR):c.930C>T (p.Phe310=)
|
rs1230103075
|
|
NM_000492.4(CFTR):c.954G>A (p.Val318=)
|
rs766189605
|
|
NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
|
NM_000492.4(CFTR):c.966G>C (p.Val322=)
|
rs2116683990
|
|
NM_000492.4(CFTR):c.981A>T (p.Leu327=)
|
|
|
NM_000492.4(CFTR):c.993C>T (p.Ile331=)
|
rs2116684106
|
|
NM_000492.4(CFTR):c.996C>A (p.Ile332=)
|
|
|