NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
NM_000492.4(CFTR):c.1680-870T>A
|
rs213965
|
0.55332
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
NM_000492.4(CFTR):c.869+11C>T
|
rs1800503
|
0.07590
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_000492.4(CFTR):c.743+40A>G
|
rs1800502
|
0.03675
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_000492.4(CFTR):c.1680-871A>G
|
rs572658447
|
0.00636
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)
|
rs1800094
|
0.00491
|
NM_000492.4(CFTR):c.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.1585-9395C>G
|
rs77164005
|
0.00223
|
NM_000492.4(CFTR):c.1210-13del
|
rs750294275
|
0.00222
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_000492.4(CFTR):c.1210-15del
|
rs371831442
|
0.00192
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000492.4(CFTR):c.1393-42G>A
|
rs34906874
|
0.00148
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
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_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_000492.4(CFTR):c.1210-12_1210-11insG
|
rs4148705
|
0.00039
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000492.4(CFTR):c.1584+12T>C
|
rs193922502
|
0.00028
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)
|
rs142864834
|
0.00025
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
NM_000492.4(CFTR):c.1209+28C>T
|
rs370653287
|
0.00018
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000492.4(CFTR):c.2424T>C (p.Tyr808=)
|
rs143954792
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)
|
rs397508395
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000492.4(CFTR):c.738G>A (p.Lys246=)
|
rs35033453
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000492.4(CFTR):c.3718-24G>A
|
rs374013084
|
0.00009
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu)
|
rs78742051
|
0.00007
|
NM_000492.4(CFTR):c.2145A>C (p.Gln715His)
|
rs141235765
|
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.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000492.4(CFTR):c.1227T>C (p.Phe409=)
|
rs778548877
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.2052A>G (p.Lys684=)
|
rs750642366
|
0.00004
|
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln)
|
rs369040061
|
0.00004
|
NM_000492.4(CFTR):c.2832G>A (p.Val944=)
|
rs193922512
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)
|
rs773018372
|
0.00003
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.250T>C (p.Tyr84His)
|
rs745756794
|
0.00003
|
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser)
|
rs562851847
|
0.00003
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2908+12G>C
|
rs184074547
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.3627A>G (p.Gln1209=)
|
rs770069168
|
0.00002
|
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=)
|
rs1800132
|
0.00002
|
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)
|
rs759726535
|
0.00002
|
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.1133A>G (p.Gln378Arg)
|
rs768589673
|
0.00001
|
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)
|
rs754152822
|
0.00001
|
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)
|
rs747504631
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1732C>G (p.Leu578Val)
|
rs979121392
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.2112A>G (p.Pro704=)
|
rs926782023
|
0.00001
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.2380G>A (p.Val794Met)
|
rs1457489949
|
0.00001
|
NM_000492.4(CFTR):c.2460A>T (p.Ile820=)
|
rs369664216
|
0.00001
|
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met)
|
rs748430234
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000492.4(CFTR):c.3375A>G (p.Gly1125=)
|
rs751140170
|
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.3731G>A (p.Gly1244Glu)
|
rs267606723
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
0.00001
|
NM_000492.4(CFTR):c.3963+6G>T
|
rs1793110791
|
0.00001
|
NM_000492.4(CFTR):c.436C>T (p.His146Tyr)
|
rs1798856136
|
0.00001
|
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)
|
rs149197463
|
0.00001
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
NM_000492.4(CFTR):c.489+7C>T
|
rs770608125
|
0.00001
|
NM_000492.4(CFTR):c.537A>G (p.Gln179=)
|
rs991635265
|
0.00001
|
NM_000492.4(CFTR):c.588A>G (p.Ala196=)
|
rs749896021
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_000492.4(CFTR):c.927C>G (p.Ala309=)
|
rs1800084
|
0.00001
|
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser)
|
rs760319837
|
0.00001
|
NC_000007.14:g.117680305A>C
|
|
|
NM_000492.3(CFTR):c.1210-17_1210-12del
|
rs3832534
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs)
|
rs121908780
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.120C>T (p.Ile40=)
|
rs376538363
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTG
|
rs4148705
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTTT
|
rs756031917
|
|
NM_000492.4(CFTR):c.1210-13_1210-11del
|
rs2115902247
|
|
NM_000492.4(CFTR):c.1210-14_1210-13insTT
|
|
|
NM_000492.4(CFTR):c.1210-19_1210-13del
|
|
|
NM_000492.4(CFTR):c.1210-34TG[13]
|
rs3832534
|
|
NM_000492.4(CFTR):c.1210-34TG[15]
|
|
|
NM_000492.4(CFTR):c.1210-34TG[7]
|
|
|
NM_000492.4(CFTR):c.1210-34TG[9]
|
rs3832534
|
|
NM_000492.4(CFTR):c.1210-6T>A
|
rs763339686
|
|
NM_000492.4(CFTR):c.1210-6dup
|
rs1805177
|
|
NM_000492.4(CFTR):c.1210-8T>C
|
|
|
NM_000492.4(CFTR):c.1210-9_1210-6dup
|
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1500C>T (p.Gly500=)
|
|
|
NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)
|
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1569A>G (p.Ala523=)
|
|
|
NM_000492.4(CFTR):c.1584+49_1584+50del
|
|
|
NM_000492.4(CFTR):c.1584+66T>C
|
|
|
NM_000492.4(CFTR):c.1584+70G>A
|
|
|
NM_000492.4(CFTR):c.1585-9368T>C
|
|
|
NM_000492.4(CFTR):c.1585-9418T>C
|
|
|
NM_000492.4(CFTR):c.1585-9465A>C
|
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1767-8T>C
|
|
|
NM_000492.4(CFTR):c.1951G>C (p.Asp651His)
|
|
|
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)
|
rs762888022
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2082G>C (p.Gly694=)
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2275C>A (p.Pro759Thr)
|
|
|
NM_000492.4(CFTR):c.2490+1G>T
|
rs141158996
|
|
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
|
|
|
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)
|
rs397508394
|
|
NM_000492.4(CFTR):c.2620-22A>G
|
|
|
NM_000492.4(CFTR):c.2657+17C>T
|
rs368543375
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2709T>C (p.Tyr903=)
|
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2955C>T (p.Asp985=)
|
|
|
NM_000492.4(CFTR):c.316A>G (p.Ile106Val)
|
rs1024092547
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
|
|
|
NM_000492.4(CFTR):c.3469-305T>C
|
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.359C>T (p.Ala120Val)
|
rs1265244783
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
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.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3873+28dup
|
|
|
NM_000492.4(CFTR):c.3873+29G>C
|
|
|
NM_000492.4(CFTR):c.3960T>C (p.Asp1320=)
|
rs2116195757
|
|
NM_000492.4(CFTR):c.3984A>G (p.Ile1328Met)
|
|
|
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.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)
|
rs376008630
|
|
NM_000492.4(CFTR):c.600C>T (p.Phe200=)
|
rs753492211
|
|
NM_000492.4(CFTR):c.744-33GATT[6]
|
rs1805171
|
|
NM_000492.4(CFTR):c.744-33GATT[8]
|
rs1805171
|
|
NM_000492.4(CFTR):c.744-34_744-31del
|
rs768226435
|
|
NM_000492.4(CFTR):c.869A>G (p.Gln290Arg)
|
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
|