NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_000492.4(CFTR):c.1210-11_1210-10insG
|
rs551227135
|
0.00072
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
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.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)
|
rs121908811
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NC_000007.14:g.117664688_117667108del
|
|
|
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
|
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
|
|
|
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
|
|
|
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.3(CFTR):c.2989_3139del151
|
rs1562914028
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
NM_000492.3(CFTR):c.54_164del111
|
rs1562882675
|
|
NM_000492.4(CFTR):c.-9_14del (p.Met1fs)
|
rs397508136
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs)
|
rs1562892359
|
|
NM_000492.4(CFTR):c.1115del (p.Gln372fs)
|
rs1562892387
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+1G>T
|
rs397508158
|
|
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.1197del (p.Phe400fs)
|
rs1562892895
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1211_1392+1del
|
rs1562894928
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)
|
rs797045161
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.147_150del (p.Ser50fs)
|
rs1562882755
|
|
NM_000492.4(CFTR):c.1486del (p.Trp496fs)
|
rs1584798316
|
|
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs)
|
rs1562898471
|
|
NM_000492.4(CFTR):c.1585-8G>A
|
rs193922503
|
|
NM_000492.4(CFTR):c.1586_1679+1del
|
rs1562906265
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1656del (p.Gln552fs)
|
rs397508253
|
|
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter)
|
rs397508256
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His)
|
rs121909006
|
|
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)
|
rs397508277
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1766+3A>C
|
rs397508298
|
|
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2089del (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)
|
rs397508343
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.243del (p.Phe81fs)
|
rs1562884046
|
|
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter)
|
rs397508381
|
|
NM_000492.4(CFTR):c.2492_2619+1del
|
rs1562908889
|
|
NM_000492.4(CFTR):c.254G>T (p.Gly85Val)
|
rs75961395
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2658-2A>G
|
rs1554390958
|
|
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
|
rs121909034
|
|
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)
|
rs121908788
|
|
NM_000492.4(CFTR):c.274-2A>C
|
rs397508426
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
NM_000492.4(CFTR):c.275_489+1del
|
rs1562889180
|
|
NM_000492.4(CFTR):c.275_579+1del
|
|
|
NM_000492.4(CFTR):c.2812dup (p.Val938fs)
|
rs1562911661
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs)
|
rs1562911739
|
|
NM_000492.4(CFTR):c.2911_3367+2del
|
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.2T>G (p.Met1Arg)
|
rs397508476
|
|
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
|
rs397508477
|
|
NM_000492.4(CFTR):c.3011del (p.Ala1004fs)
|
rs1562914082
|
|
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)
|
rs1562914107
|
|
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter)
|
rs1562914200
|
|
NM_000492.4(CFTR):c.3141_3468+1del
|
|
|
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
|
rs397508510
|
|
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)
|
rs1562914641
|
|
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)
|
rs779177972
|
|
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs)
|
rs1562914838
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3367+2T>A
|
rs397508544
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs)
|
rs397508559
|
|
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)
|
rs1562923164
|
|
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)
|
rs397508616
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter)
|
rs193922732
|
|
NM_000492.4(CFTR):c.3966_4242+2del
|
rs1562928854
|
|
NM_000492.4(CFTR):c.3999del (p.Lys1334fs)
|
rs886042527
|
|
NM_000492.4(CFTR):c.3G>A (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.4028del (p.Gly1343fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)
|
rs397508678
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter)
|
rs397508699
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.433del (p.Leu145fs)
|
rs1562889382
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.490-1G>T
|
rs397508734
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.4del (p.Gln2fs)
|
rs1562876396
|
|
NM_000492.4(CFTR):c.51del (p.Phe17fs)
|
rs1317756653
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.560del (p.Asn187fs)
|
rs1562890223
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.580-2A>C
|
rs193922730
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
|
rs397508781
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter)
|
rs1584787782
|
|
NM_000492.4(CFTR):c.866_870del (p.Arg289fs)
|
rs1562891084
|
|
NM_000492.4(CFTR):c.869+1G>T
|
rs1330431481
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|