NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
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.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
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.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.2988G>A (p.Gln996=)
|
rs121908797
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
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.1466C>A (p.Ser489Ter)
|
rs397508211
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter)
|
rs79633941
|
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.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)
|
rs397508777
|
0.00003
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
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.178G>T (p.Glu60Ter)
|
rs77284892
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.274-1G>A
|
rs121908792
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
|
rs80282562
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs)
|
rs397508138
|
0.00001
|
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)
|
rs77409459
|
0.00001
|
NM_000492.4(CFTR):c.1081del (p.Trp361fs)
|
rs387906361
|
0.00001
|
NM_000492.4(CFTR):c.1393-2A>G
|
rs397508201
|
0.00001
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
|
NM_000492.4(CFTR):c.1584+1G>A
|
rs397508230
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)
|
rs193922504
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)
|
rs121909006
|
0.00001
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)
|
rs201978662
|
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.234dup (p.Trp79fs)
|
rs1189377616
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
NM_000492.4(CFTR):c.2810dup (p.Val938fs)
|
rs193922510
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)
|
rs397508500
|
0.00001
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)
|
rs121908763
|
0.00001
|
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)
|
rs121908811
|
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.3808del (p.Asp1270fs)
|
rs763843966
|
0.00001
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
NM_000492.4(CFTR):c.580-2A>G
|
rs193922730
|
0.00001
|
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)
|
rs121908802
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter)
|
rs397508808
|
0.00001
|
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)del
|
|
|
NC_000007.13:g.(117120202_117144306)_(117149197_117170952)del
|
|
|
NC_000007.13:g.(117120202_117144306)_(117188878_117199517)del
|
|
|
NC_000007.13:g.(117149197_117170952)_(117180401_117182069)del
|
|
|
NC_000007.13:g.(117149197_117170952)_(117199710_117227792)del
|
|
|
NC_000007.13:g.(117175466_117176601)_(117199710_117227792)dup
|
|
|
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)del
|
|
|
NC_000007.13:g.(117199710_117227792)_(117254768_117267575)del
|
|
|
NC_000007.13:g.(117243837_117246727)_(117254768_117267575)dup
|
|
|
NC_000007.13:g.(117246808_117250572)_(117251863_117254666)del
|
|
|
NC_000007.13:g.(117292986_117304741)_(117305619_117306961)del
|
|
|
NC_000007.13:g.(?_117120078)_(117308720_?)del
|
|
|
NC_000007.14:g.(117606754_117610518)_(117614714_117627521)del
|
|
|
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs)
|
rs121908780
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
|
|
|
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
|
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys)
|
rs397508152
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)
|
rs397508163
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
NM_000492.4(CFTR):c.1189del (p.Asn396_Val397insTer)
|
|
|
NM_000492.4(CFTR):c.1209+1G>A
|
rs397508176
|
|
NM_000492.4(CFTR):c.1210-2A>C
|
rs397508179
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer)
|
rs397508184
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs)
|
rs397508186
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
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.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1418del (p.Gly473fs)
|
rs397508205
|
|
NM_000492.4(CFTR):c.1469del (p.Phe490fs)
|
rs775663783
|
|
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)
|
rs121908775
|
|
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)
|
rs121908776
|
|
NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter)
|
rs2115938731
|
|
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)
|
rs397508227
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-8G>A
|
rs193922503
|
|
NM_000492.4(CFTR):c.164+1G>A
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)
|
rs397508247
|
|
NM_000492.4(CFTR):c.165-1G>A
|
rs397508249
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)
|
rs80055610
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)
|
|
|
NM_000492.4(CFTR):c.168del (p.Glu56fs)
|
rs397508269
|
|
NM_000492.4(CFTR):c.1692del (p.Asp565fs)
|
rs193922505
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter)
|
|
|
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)
|
rs397508279
|
|
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)
|
rs121909025
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1766+2T>C
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs)
|
rs397508303
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
|
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.1924_1931del (p.Ser642fs)
|
|
|
NM_000492.4(CFTR):c.1972dup (p.Arg658fs)
|
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)
|
rs397508331
|
|
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)
|
rs121908799
|
|
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.2128A>T (p.Lys710Ter)
|
rs75115087
|
|
NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer)
|
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)
|
rs397508368
|
|
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs)
|
rs387906359
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)
|
rs1554389486
|
|
NM_000492.4(CFTR):c.2486T>A (p.Leu829Ter)
|
|
|
NM_000492.4(CFTR):c.2490+1G>A
|
rs141158996
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2573del (p.Ser858fs)
|
rs1562908997
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)
|
rs397508400
|
|
NM_000492.4(CFTR):c.2601dup (p.Val868fs)
|
rs397508405
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)
|
rs397508413
|
|
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)
|
rs121908750
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NM_000492.4(CFTR):c.273+3A>C
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rs74467662
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NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
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rs121909034
|
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NM_000492.4(CFTR):c.274-2A>G
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rs397508426
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NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)
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rs121908751
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NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
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rs121908751
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NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs)
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rs397508431
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NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
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rs397508435
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NM_000492.4(CFTR):c.2818dup (p.Thr940fs)
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|
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NM_000492.4(CFTR):c.2825del (p.Ile942fs)
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rs397508441
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NM_000492.4(CFTR):c.2896del (p.Thr966fs)
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rs397508451
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NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg)
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rs397508453
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NM_000492.4(CFTR):c.2989-2A>G
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rs193922515
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NM_000492.4(CFTR):c.3011del (p.Ala1004fs)
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rs1562914082
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NM_000492.4(CFTR):c.3022del (p.Val1008fs)
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rs397508482
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NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
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rs121908767
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NM_000492.4(CFTR):c.313del (p.Ile105fs)
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rs121908801
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NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
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rs142394380
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NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)
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rs121909036
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NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)
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rs779177972
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NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
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NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA
|
rs1554392248
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NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
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rs113993958
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NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)
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rs397508532
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NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
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rs397508535
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NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)
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rs397508536
|
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NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
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rs146521846
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NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
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NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
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rs397508571
|
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NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs)
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rs397508575
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NM_000492.4(CFTR):c.3495del (p.Lys1165fs)
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rs1057516970
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NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
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rs77834169
|
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NM_000492.4(CFTR):c.350G>A (p.Arg117His)
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rs78655421
|
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NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
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rs78984783
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NM_000492.4(CFTR):c.3540del (p.Lys1180fs)
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rs397508580
|
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NM_000492.4(CFTR):c.354dup (p.Ile119fs)
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|
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NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
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rs75389940
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NM_000492.4(CFTR):c.3717+5G>A
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rs193922520
|
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NM_000492.4(CFTR):c.3718-1G>A
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rs387906369
|
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NM_000492.4(CFTR):c.3747del (p.Lys1250fs)
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rs797045159
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|
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)
|
rs397508604
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
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rs121909041
|
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NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)
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rs1584837090
|
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NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)
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rs397508620
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs)
|
rs1793108213
|
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NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
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NM_000492.4(CFTR):c.3908del (p.Asn1303fs)
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rs397508637
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NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)
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rs121909026
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NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
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rs193922525
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NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
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NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter)
|
rs397508669
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
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rs397508686
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NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)
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rs397508684
|
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NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)
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rs397508702
|
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NM_000492.4(CFTR):c.4242+1G>A
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rs372227120
|
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NM_000492.4(CFTR):c.4251del (p.Glu1418fs)
|
rs397508706
|
|
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)
|
rs750559671
|
|
NM_000492.4(CFTR):c.429del (p.Phe143fs)
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rs387906364
|
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NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)
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rs1562876459
|
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NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
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NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)
|
rs397508729
|
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NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
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rs397508740
|
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NM_000492.4(CFTR):c.50del (p.Phe17fs)
|
rs397508714
|
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NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
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NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
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NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
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rs397508759
|
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NM_000492.4(CFTR):c.580-1G>T
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rs121908793
|
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NM_000492.4(CFTR):c.580G>T (p.Gly194Ter)
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rs376008630
|
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NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)
|
rs397508771
|
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NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
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rs397508778
|
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NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
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NM_000492.4(CFTR):c.764del (p.Ile255fs)
|
|
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NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)
|
rs397508796
|
|
NM_000492.4(CFTR):c.803del (p.Asn268fs)
|
rs121908772
|
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NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
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NM_000492.4(CFTR):c.869+3A>T
|
rs1554380828
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
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NM_000492.4(CFTR):c.987del (p.Gly330fs)
|
rs397508824
|
|