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.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.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
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.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.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.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.1466C>A (p.Ser489Ter)
|
rs397508211
|
0.00003
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
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.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
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.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
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.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.274-1G>A
|
rs121908792
|
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.532G>A (p.Gly178Arg)
|
rs80282562
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)
|
rs79031340
|
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.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)
|
rs397508222
|
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.166G>A (p.Glu56Lys)
|
rs397508256
|
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.1753G>T (p.Glu585Ter)
|
rs397508296
|
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.223C>T (p.Arg75Ter)
|
rs121908749
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)
|
rs397508378
|
0.00001
|
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter)
|
rs397508393
|
0.00001
|
NM_000492.4(CFTR):c.273+1G>A
|
rs121908791
|
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.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)
|
rs397508467
|
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.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)
|
rs121908763
|
0.00001
|
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)
|
rs121908765
|
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.3731G>A (p.Gly1244Glu)
|
rs267606723
|
0.00001
|
NM_000492.4(CFTR):c.3744del (p.Lys1250fs)
|
rs121908784
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
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.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.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del
|
|
|
NM_000492.3(CFTR):c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del
|
|
|
NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del
|
|
|
NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del
|
|
|
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del
|
|
|
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del
|
|
|
NM_000492.3(CFTR):c.(273+1_274-1)_(1679+1_1680-1)del
|
|
|
NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del
|
|
|
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del
|
|
|
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del
|
|
|
NM_000492.3(CFTR):c.(3367+1_3368-1)_(3468+1_3469-1)del
|
|
|
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3873+1_3874-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del
|
|
|
NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del
|
|
|
NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup
|
|
|
NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs)
|
rs121908780
|
|
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_000492.3(CFTR):c.[1075C>A;1079C>A]
|
|
|
NM_000492.3(CFTR):c.[1397C>G;3209G>A]
|
|
|
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]
|
|
|
NM_000492.3(CFTR):c.[350G>A;1210-12[5]]
|
|
|
NM_000492.3:c.(273+1_274-1)_(1584+1_1585-1)del
|
|
|
NM_000492.3:c.54-5842_489+401del
|
|
|
NM_000492.4(CFTR):c.-9_14del (p.Met1fs)
|
rs397508136
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)
|
rs397508146
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1117-1G>A
|
rs797045160
|
|
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)
|
rs397508163
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter)
|
rs397508174
|
|
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter)
|
rs397508175
|
|
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.1240C>T (p.Gln414Ter)
|
rs397508183
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs)
|
rs397508186
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
NM_000492.4(CFTR):c.1358T>C (p.Leu453Ser)
|
rs1562895128
|
|
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.137C>A (p.Ala46Asp)
|
rs151020603
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1418del (p.Gly473fs)
|
rs397508205
|
|
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)
|
rs756206533
|
|
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)
|
rs121908775
|
|
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)
|
rs397508216
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)
|
rs121908776
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)
|
rs397508227
|
|
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.164+2T>C
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+4dup
|
rs397508244
|
|
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)
|
rs121908757
|
|
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg)
|
rs121909005
|
|
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)
|
rs397508247
|
|
NM_000492.4(CFTR):c.165-1G>A
|
rs397508249
|
|
NM_000492.4(CFTR):c.1650del (p.Gly551fs)
|
rs397508251
|
|
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.1670del (p.Ser557fs)
|
rs397508257
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1679+1G>C
|
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.1687T>G (p.Tyr563Asp)
|
rs121909006
|
|
NM_000492.4(CFTR):c.168del (p.Glu56fs)
|
rs397508269
|
|
NM_000492.4(CFTR):c.1692del (p.Asp565fs)
|
rs193922505
|
|
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.1703del (p.Leu568fs)
|
rs397508274
|
|
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.174_177del (p.Asp58fs)
|
rs397508295
|
|
NM_000492.4(CFTR):c.175dup (p.Arg59fs)
|
rs397508294
|
|
NM_000492.4(CFTR):c.1766+1G>C
|
rs121908748
|
|
NM_000492.4(CFTR):c.1766+1G>T
|
rs121908748
|
|
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)
|
rs77284892
|
|
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs)
|
rs397508303
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)
|
rs121908779
|
|
NM_000492.4(CFTR):c.1943del (p.Asp648fs)
|
rs1481564133
|
|
NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter)
|
rs397508323
|
|
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs)
|
rs397508325
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
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.2053C>T (p.Gln685Ter)
|
rs397508336
|
|
NM_000492.4(CFTR):c.2053dup (p.Gln685fs)
|
rs797045162
|
|
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)
|
rs75115087
|
|
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)
|
rs397508343
|
|
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter)
|
rs397508346
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter)
|
rs397508354
|
|
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs)
|
rs397508355
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs)
|
rs387906359
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs)
|
rs797045156
|
|
NM_000492.4(CFTR):c.2490+1G>A
|
rs141158996
|
|
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter)
|
rs397508389
|
|
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)
|
rs267606722
|
|
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)
|
rs397508394
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
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.263T>A (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)
|
rs397508413
|
|
NM_000492.4(CFTR):c.2658-1G>C
|
rs397508416
|
|
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)
|
rs121908750
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
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>G
|
rs397508426
|
|
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)
|
rs121908751
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs)
|
rs397508431
|
|
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
|
rs397508435
|
|
NM_000492.4(CFTR):c.2822del (p.Leu941fs)
|
rs762844777
|
|
NM_000492.4(CFTR):c.2825del (p.Ile942fs)
|
rs397508441
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.2896del (p.Thr966fs)
|
rs397508451
|
|
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2989-2A>G
|
rs193922515
|
|
NM_000492.4(CFTR):c.2989-977_3367+248del
|
|
|
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
|
rs397508477
|
|
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)
|
rs1562914072
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
|
rs397508496
|
|
NM_000492.4(CFTR):c.310del (p.Arg104fs)
|
rs397508499
|
|
NM_000492.4(CFTR):c.313del (p.Ile105fs)
|
rs121908801
|
|
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
|
rs397508510
|
|
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
|
rs142394380
|
|
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs)
|
rs768963919
|
|
NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs)
|
rs121908798
|
|
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)
|
rs121908761
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)
|
rs397508532
|
|
NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)
|
rs36210737
|
|
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)
|
rs397508536
|
|
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)
|
rs397508538
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)
|
rs397508549
|
|
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)
|
rs397508561
|
|
NM_000492.4(CFTR):c.3468+5G>A
|
rs1554392801
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)
|
rs397508572
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)
|
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.3600del (p.Asp1201fs)
|
rs2116129596
|
|
NM_000492.4(CFTR):c.3605del (p.Asp1202fs)
|
rs397508587
|
|
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter)
|
rs121908764
|
|
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)
|
rs79660178
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3717+4A>G
|
rs387906362
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3718-1G>A
|
rs387906369
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3747del (p.Lys1250fs)
|
rs797045159
|
|
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)
|
rs397508604
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)
|
rs121908789
|
|
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn)
|
rs1562923253
|
|
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter)
|
rs397508613
|
|
NM_000492.4(CFTR):c.3848G>T (p.Arg1283Met)
|
rs77902683
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs)
|
rs387906373
|
|
NM_000492.4(CFTR):c.3883del (p.Ile1295fs)
|
rs397508630
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs)
|
rs397508633
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3900dup (p.Arg1301Ter)
|
rs1554396393
|
|
NM_000492.4(CFTR):c.3908del (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)
|
rs397508645
|
|
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)
|
rs121909026
|
|
NM_000492.4(CFTR):c.3964-78_4242+577del
|
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)
|
rs375661578
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs)
|
rs397508662
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter)
|
rs397508669
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)
|
rs397508678
|
|
NM_000492.4(CFTR):c.4127_4131del (p.Leu1376fs)
|
rs1554397527
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)
|
rs397508684
|
|
NM_000492.4(CFTR):c.4147dup (p.Ile1383fs)
|
rs397508685
|
|
NM_000492.4(CFTR):c.416A>G (p.His139Arg)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)
|
rs397508693
|
|
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter)
|
rs397508701
|
|
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)
|
rs397508702
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.424del (p.Ile142fs)
|
rs387906363
|
|
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)
|
rs397508706
|
|
NM_000492.4(CFTR):c.429del (p.Phe143fs)
|
rs387906364
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.442del (p.Ile148fs)
|
rs121908770
|
|
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)
|
rs1562876459
|
|
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)
|
rs1554379887
|
|
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)
|
rs397508729
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.50del (p.Phe17fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.543_546del (p.Leu183fs)
|
rs397508750
|
|
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)
|
rs397508758
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)
|
rs397508762
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)
|
rs376008630
|
|
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)
|
rs397508775
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg)
|
rs397508782
|
|
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer)
|
rs1554380497
|
|
NM_000492.4(CFTR):c.723_743+1del
|
rs121908804
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.761del (p.Lys254fs)
|
rs2116678523
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)
|
rs397508796
|
|
NM_000492.4(CFTR):c.803del (p.Asn268fs)
|
rs121908772
|
|
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
|
rs397508799
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)
|
rs397508815
|
|
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)
|
rs121909016
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000492.4(CFTR):c.987del (p.Gly330fs)
|
rs397508824
|
|
NM_000492.4(CFTR):c.[1523T>G;3752G>A]
|
|
|
NM_000492.4(CFTR):c.[3846G>A;3848G>T]
|
|
|
NM_000492.4(CFTR):c.[4C>T;7A>T]
|
|
|