NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
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.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_000492.4(CFTR):c.1210-11_1210-10insG
|
rs551227135
|
0.00072
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
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.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.489+3A>G
|
rs377729736
|
0.00016
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
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.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
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.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
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.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
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.1680-886A>G
|
rs397508266
|
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.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
|
rs193922511
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
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.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.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
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.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
NM_000492.4(CFTR):c.1081del (p.Trp361fs)
|
rs387906361
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
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.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)
|
rs397508222
|
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.1585-9412A>G
|
rs397508229
|
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.1724T>A (p.Phe575Tyr)
|
rs773569201
|
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.2210C>T (p.Ser737Phe)
|
rs186089140
|
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.234dup (p.Trp79fs)
|
rs1189377616
|
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.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter)
|
rs397508393
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.273+1G>A
|
rs121908791
|
0.00001
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
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.292C>T (p.Gln98Ter)
|
rs397508461
|
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.296C>T (p.Pro99Leu)
|
rs397508467
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter)
|
rs397508484
|
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.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3744del (p.Lys1250fs)
|
rs121908784
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
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.3808del (p.Asp1270fs)
|
rs763843966
|
0.00001
|
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg)
|
rs397508616
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
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.476T>C (p.Leu159Ser)
|
rs397508727
|
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.581G>T (p.Gly194Val)
|
rs397508763
|
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_000492.4(CFTR):c.868C>T (p.Gln290Ter)
|
rs397508808
|
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.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
A445E
|
|
|
CFTR, GLN524HIS
|
|
|
Multiple alleles
|
|
|
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_000007.13:g.(?_117120136)_(117199729_?)del
|
|
|
NC_000007.13:g.(?_117120137)_(117173634_?)del
|
|
|
NC_000007.13:g.(?_117170943)_(117182242_?)del
|
|
|
NC_000007.13:g.(?_117174320)_(117176752_?)del
|
|
|
NC_000007.13:g.(?_117176588)_(117176752_?)del
|
|
|
NC_000007.13:g.(?_117218381)_(117254777_?)del
|
|
|
NC_000007.13:g.(?_117227774)_(117227921_?)del
|
|
|
NC_000007.13:g.(?_117246713)_(117251872_?)del
|
|
|
NC_000007.13:g.(?_117254648)_(117254777_?)del
|
|
|
NC_000007.13:g.(?_117266272)_(117292995_?)del
|
|
|
NC_000007.13:g.(?_117304664)_(117306195_?)del
|
|
|
NC_000007.13:g.(?_117304722)_(117305638_?)del
|
|
|
NC_000007.13:g.117243773_117243774insLINE
|
|
|
NC_000007.14:g.(117606754_117610518)_(117614714_117627521)del
|
|
|
NC_000007.14:g.(?_117478787)_(117480271_?)del
|
|
|
NC_000007.14:g.(?_117504233)_(117504391_?)del
|
|
|
NC_000007.14:g.(?_117504240)_(117509152_?)del
|
|
|
NC_000007.14:g.(?_117504240)_(117531201_?)del
|
|
|
NC_000007.14:g.(?_117530879)_(117535431_?)del
|
|
|
NC_000007.14:g.(?_117587720)_(117614723_?)del
|
|
|
NC_000007.14:g.(?_117602729)_(117611828_?)del
|
|
|
NC_000007.14:g.(?_117602793)_(117611818_?)del
|
|
|
NC_000007.14:g.(?_117606659)_(117606786_?)del
|
|
|
NC_000007.14:g.(?_117606659)_(117614723_?)dup
|
|
|
NC_000007.14:g.(?_117610509)_(117611818_?)del
|
|
|
NC_000007.14:g.(?_117614593)_(117614733_?)del
|
|
|
NC_000007.14:g.(?_117614603)_(117614764_?)del
|
|
|
NC_000007.14:g.(?_117664660)_(117665584_?)del
|
|
|
NC_000007.14:g.(?_117664678)_(117665574_?)del
|
|
|
NC_000007.14:g.(?_117664682)_(117665570_?)del
|
|
|
NC_000007.14:g.117530899del
|
|
|
NG_016465.4:g.13126_48866dup
|
|
|
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.(1392+1_1393-1)_(1584+1_1585-1)del
|
|
|
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.(405+1_406-1)_(6132)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.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.13196C>T
|
rs1554398510
|
|
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.2805_2810delinsTCAGA (p.Pro936fs)
|
rs1554391033
|
|
NM_000492.3(CFTR):c.2909_2924dup
|
|
|
NM_000492.3(CFTR):c.2909delG
|
rs397508458
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.3(CFTR):c.3965_3969dup
|
rs1209386423
|
|
NM_000492.3(CFTR):c.54_164del111
|
rs1562882675
|
|
NM_000492.3(CFTR):c.744-?_1584+?dup
|
|
|
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
|
|
|
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
|
|
|
NM_000492.3(CFTR):c.[2735C>T;3731G>T]
|
|
|
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.(?_-1)_(*1_?)del
|
|
|
NM_000492.3:c.1585-?_1766+?del
|
|
|
NM_000492.3:c.274-?_1584+?dup
|
|
|
NM_000492.3:c.2989-?_3367+?del
|
|
|
NM_000492.3:c.2989-?_3468+?del
|
|
|
NM_000492.3:c.54-5842_489+401del
|
|
|
NM_000492.3:c.54_273del
|
|
|
NM_000492.3:c.743+416_1584+2988dup
|
|
|
NM_000492.3:c.870-?_1584+?del
|
|
|
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.1008_1019dup (p.Phe337_Ile340dup)
|
rs397508140
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1012_1013del (p.Thr338fs)
|
|
|
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.1040G>T (p.Arg347Leu)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1057C>T (p.Gln353Ter)
|
rs397508148
|
|
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter)
|
rs397508150
|
|
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys)
|
rs397508152
|
|
NM_000492.4(CFTR):c.1078del (p.Thr360fs)
|
|
|
NM_000492.4(CFTR):c.1080del (p.Trp361fs)
|
|
|
NM_000492.4(CFTR):c.1083del (p.Trp361fs)
|
rs387906375
|
|
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs)
|
rs1562892359
|
|
NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs)
|
rs387906365
|
|
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>C
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+1G>T
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+2T>A
|
|
|
NM_000492.4(CFTR):c.1116+2T>C
|
|
|
NM_000492.4(CFTR):c.1117-1G>A
|
rs797045160
|
|
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)
|
rs397508163
|
|
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter)
|
rs2115882158
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
|
|
|
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)
|
rs1554381605
|
|
NM_000492.4(CFTR):c.1155T>A (p.Tyr385Ter)
|
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs)
|
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
NM_000492.4(CFTR):c.1162_1168del (p.Thr388fs)
|
rs397508169
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer)
|
rs397508171
|
|
NM_000492.4(CFTR):c.1189del (p.Asn396_Val397insTer)
|
|
|
NM_000492.4(CFTR):c.1197del (p.Phe400fs)
|
rs1562892895
|
|
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.1209+1G>C
|
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1209+2T>G
|
rs1584790302
|
|
NM_000492.4(CFTR):c.1209G>A (p.Glu403=)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1210-11_1210-9delinsG
|
rs2115902456
|
|
NM_000492.4(CFTR):c.1210-11delinsGTG
|
rs1584793368
|
|
NM_000492.4(CFTR):c.1210-11delinsGTGTG
|
|
|
NM_000492.4(CFTR):c.1210-13_1210-8del
|
rs1399483116
|
|
NM_000492.4(CFTR):c.1210-15_1210-10del
|
rs2115902212
|
|
NM_000492.4(CFTR):c.1210-2A>C
|
rs397508179
|
|
NM_000492.4(CFTR):c.1211_1392+1del
|
rs1562894928
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
NM_000492.4(CFTR):c.1221del (p.Glu407fs)
|
|
|
NM_000492.4(CFTR):c.1224_1227del (p.Phe409fs)
|
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
NM_000492.4(CFTR):c.1234del (p.Ala412fs)
|
rs397508181
|
|
NM_000492.4(CFTR):c.1235del (p.Ala412fs)
|
rs397508182
|
|
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)
|
rs397508183
|
|
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer)
|
rs397508184
|
|
NM_000492.4(CFTR):c.1248dup (p.Asn417Ter)
|
rs1584793451
|
|
NM_000492.4(CFTR):c.1261dup (p.Thr421fs)
|
rs2115903081
|
|
NM_000492.4(CFTR):c.1290del (p.Phe430fs)
|
|
|
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.1301_1307del (p.Ser434fs)
|
rs397508186
|
|
NM_000492.4(CFTR):c.1319_1323del (p.Val440fs)
|
|
|
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly)
|
rs1800074
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.1324A>T (p.Lys442Ter)
|
rs1584793546
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs)
|
rs1562895066
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1334del (p.Asn445fs)
|
rs2115903565
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
NM_000492.4(CFTR):c.1347_1350del (p.Arg450fs)
|
rs1562895104
|
|
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.1373G>T (p.Gly458Val)
|
rs121909009
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)
|
rs151020603
|
|
NM_000492.4(CFTR):c.1392+1G>A
|
rs397508197
|
|
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)
|
rs397508198
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.1418del (p.Gly473fs)
|
rs397508205
|
|
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)
|
rs756206533
|
|
NM_000492.4(CFTR):c.1420G>T (p.Glu474Ter)
|
rs756206533
|
|
NM_000492.4(CFTR):c.142_145del (p.Asn48fs)
|
|
|
NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter)
|
rs397508207
|
|
NM_000492.4(CFTR):c.1446dup (p.Lys483Ter)
|
rs397508209
|
|
NM_000492.4(CFTR):c.1464_1476del (p.Cys491fs)
|
rs2115937867
|
|
NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs)
|
rs2115937855
|
|
NM_000492.4(CFTR):c.1469del (p.Phe490fs)
|
rs775663783
|
|
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)
|
rs121908775
|
|
NM_000492.4(CFTR):c.147_150del (p.Ser50fs)
|
rs1562882755
|
|
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
|
|
|
NM_000492.4(CFTR):c.1486del (p.Trp496fs)
|
rs1584798316
|
|
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)
|
rs397508216
|
|
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro)
|
rs397508217
|
|
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.1517T>G (p.Ile506Ser)
|
rs397508224
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs)
|
rs1562898471
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter)
|
rs1799425190
|
|
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs)
|
rs1301983423
|
|
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)
|
rs121908776
|
|
NM_000492.4(CFTR):c.154A>T (p.Lys52Ter)
|
|
|
NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter)
|
rs2115938731
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
NM_000492.4(CFTR):c.156_163dup (p.Arg55fs)
|
|
|
NM_000492.4(CFTR):c.156del (p.Lys52fs)
|
rs1346705436
|
|
NM_000492.4(CFTR):c.156dup (p.Leu53fs)
|
|
|
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)
|
rs397508227
|
|
NM_000492.4(CFTR):c.1573del (p.Gln525fs)
|
rs774433839
|
|
NM_000492.4(CFTR):c.1579_1584+11del
|
|
|
NM_000492.4(CFTR):c.1584+2T>C
|
rs397508231
|
|
NM_000492.4(CFTR):c.15del (p.Leu6fs)
|
|
|
NM_000492.4(CFTR):c.164+1G>A
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+1G>C
|
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+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.164+4dup
|
rs397508244
|
|
NM_000492.4(CFTR):c.1680-1G>C
|
rs121908794
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1680-883A>G
|
rs1554388867
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)
|
|
|
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His)
|
rs121909006
|
|
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp)
|
rs121909006
|
|
NM_000492.4(CFTR):c.1689C>A (p.Tyr563Ter)
|
|
|
NM_000492.4(CFTR):c.1692del (p.Asp565fs)
|
rs193922505
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
NM_000492.4(CFTR):c.1703del (p.Leu568fs)
|
rs397508274
|
|
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His)
|
rs397508276
|
|
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)
|
rs397508277
|
|
NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter)
|
rs397508278
|
|
NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter)
|
|
|
NM_000492.4(CFTR):c.1709del (p.Leu570fs)
|
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser)
|
rs397508283
|
|
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs)
|
rs1562907232
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1738del (p.Val580fs)
|
rs397508289
|
|
NM_000492.4(CFTR):c.1742dup (p.Leu581fs)
|
rs397508290
|
|
NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter)
|
|
|
NM_000492.4(CFTR):c.1766+1G>C
|
rs121908748
|
|
NM_000492.4(CFTR):c.1766+1G>T
|
rs121908748
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+2T>C
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+3A>C
|
rs397508298
|
|
NM_000492.4(CFTR):c.1766+5G>A
|
rs121908796
|
|
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)
|
rs397508300
|
|
NM_000492.4(CFTR):c.1767-683_2619+550delinsCTACATTTGTACTA
|
|
|
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro)
|
rs1554389245
|
|
NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter)
|
rs397508302
|
|
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.1807del (p.Val603fs)
|
|
|
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)
|
rs397508308
|
|
NM_000492.4(CFTR):c.1811del (p.Thr604fs)
|
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1867dup (p.Ser623fs)
|
|
|
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
|
|
|
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.1891dup (p.Ser631fs)
|
|
|
NM_000492.4(CFTR):c.1904del (p.Asn635fs)
|
rs1381239923
|
|
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter)
|
rs397508320
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)
|
rs121908779
|
|
NM_000492.4(CFTR):c.1924_1931del (p.Ser642fs)
|
|
|
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.1937del (p.Gly646fs)
|
|
|
NM_000492.4(CFTR):c.1943A>T (p.Asp648Val)
|
rs121909033
|
|
NM_000492.4(CFTR):c.1943del (p.Asp648fs)
|
rs1481564133
|
|
NM_000492.4(CFTR):c.1949del (p.Phe650fs)
|
|
|
NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter)
|
rs397508323
|
|
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)
|
rs1792036190
|
|
NM_000492.4(CFTR):c.1972dup (p.Arg658fs)
|
|
|
NM_000492.4(CFTR):c.1976del (p.Asn659fs)
|
rs121908809
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
NM_000492.4(CFTR):c.1981del (p.Ile661fs)
|
rs397508324
|
|
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.19G>T (p.Glu7Ter)
|
rs121909045
|
|
NM_000492.4(CFTR):c.2012T>A (p.Leu671Ter)
|
rs2116031354
|
|
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.2036G>A (p.Trp679Ter)
|
rs397508333
|
|
NM_000492.4(CFTR):c.2044del (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.2045del (p.Thr682fs)
|
rs1584812361
|
|
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)
|
rs121908799
|
|
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.2053C>T (p.Gln685Ter)
|
rs397508336
|
|
NM_000492.4(CFTR):c.2053dup (p.Gln685fs)
|
rs797045162
|
|
NM_000492.4(CFTR):c.2058_2061dup (p.Lys688delinsPheTer)
|
|
|
NM_000492.4(CFTR):c.2061_2062insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCTTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAACAATCTTTT (p.Lys688delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
|
|
|
NM_000492.4(CFTR):c.2062_2066delinsTTTTTGTTTG (p.Lys688fs)
|
|
|
NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter)
|
rs1584812425
|
|
NM_000492.4(CFTR):c.2083dup (p.Glu695fs)
|
rs397508339
|
|
NM_000492.4(CFTR):c.2089del (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.2089dup (p.Arg697fs)
|
rs397508341
|
|
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.2145_2146delinsGT (p.Lys716Ter)
|
rs397508344
|
|
NM_000492.4(CFTR):c.2146A>T (p.Lys716Ter)
|
rs121909023
|
|
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter)
|
rs397508345
|
|
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter)
|
rs397508346
|
|
NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer)
|
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.2213T>G (p.Leu738Ter)
|
|
|
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.2249_2256del (p.Pro750fs)
|
rs397508356
|
|
NM_000492.4(CFTR):c.2261del (p.Val754fs)
|
rs2116032687
|
|
NM_000492.4(CFTR):c.2291del (p.Arg764fs)
|
rs387906376
|
|
NM_000492.4(CFTR):c.2299C>T (p.Gln767Ter)
|
rs1584812646
|
|
NM_000492.4(CFTR):c.2301del (p.Gln767fs)
|
rs2116032944
|
|
NM_000492.4(CFTR):c.2324_2325del (p.His775fs)
|
rs397508364
|
|
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter)
|
rs397508365
|
|
NM_000492.4(CFTR):c.2335C>T (p.Gln779Ter)
|
rs2116033063
|
|
NM_000492.4(CFTR):c.2335del (p.Gln779fs)
|
|
|
NM_000492.4(CFTR):c.2337del (p.Gly780fs)
|
|
|
NM_000492.4(CFTR):c.233del (p.Phe78fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)
|
rs397508368
|
|
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter)
|
rs397508371
|
|
NM_000492.4(CFTR):c.2373del (p.Arg792fs)
|
rs1584812696
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.2382_2383del (p.Ser795fs)
|
|
|
NM_000492.4(CFTR):c.2393dup (p.Gln799fs)
|
rs397508372
|
|
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs)
|
rs387906359
|
|
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter)
|
rs377447726
|
|
NM_000492.4(CFTR):c.2435dup (p.Leu812fs)
|
rs397508376
|
|
NM_000492.4(CFTR):c.2438del (p.Ser813fs)
|
|
|
NM_000492.4(CFTR):c.243del (p.Phe81fs)
|
rs1562884046
|
|
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)
|
rs397508377
|
|
NM_000492.4(CFTR):c.2443G>T (p.Glu815Ter)
|
rs672601316
|
|
NM_000492.4(CFTR):c.2443del (p.Glu815fs)
|
rs1584812777
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs)
|
rs797045156
|
|
NM_000492.4(CFTR):c.2472del (p.Asn825fs)
|
rs397508380
|
|
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)
|
rs1554389486
|
|
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter)
|
rs397508381
|
|
NM_000492.4(CFTR):c.2479G>T (p.Glu827Ter)
|
rs121909018
|
|
NM_000492.4(CFTR):c.2486T>A (p.Leu829Ter)
|
|
|
NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter)
|
rs397508382
|
|
NM_000492.4(CFTR):c.2490+1G>A
|
rs141158996
|
|
NM_000492.4(CFTR):c.2490+1G>T
|
rs141158996
|
|
NM_000492.4(CFTR):c.2492_2619+1del
|
rs1562908889
|
|
NM_000492.4(CFTR):c.2496C>A (p.Cys832Ter)
|
rs397508388
|
|
NM_000492.4(CFTR):c.2502del (p.Phe834fs)
|
rs397508389
|
|
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter)
|
rs397508389
|
|
NM_000492.4(CFTR):c.2508del (p.Asp836fs)
|
rs397508391
|
|
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)
|
rs267606722
|
|
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)
|
rs1584776437
|
|
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)
|
rs397508394
|
|
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.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2555del (p.Tyr852fs)
|
|
|
NM_000492.4(CFTR):c.2560dup (p.Thr854fs)
|
rs2116039575
|
|
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.2592_2593del (p.Ile864fs)
|
rs397508401
|
|
NM_000492.4(CFTR):c.25dup (p.Ala9fs)
|
rs1584764596
|
|
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter)
|
rs397508404
|
|
NM_000492.4(CFTR):c.2601dup (p.Val868fs)
|
rs397508405
|
|
NM_000492.4(CFTR):c.2605del (p.Ile869fs)
|
|
|
NM_000492.4(CFTR):c.2605dup (p.Ile869fs)
|
|
|
NM_000492.4(CFTR):c.2619+2T>C
|
|
|
NM_000492.4(CFTR):c.2620-2A>G
|
rs1554390859
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2637_2644del (p.Val880fs)
|
|
|
NM_000492.4(CFTR):c.2639_2640dup (p.Leu881fs)
|
rs1584817344
|
|
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.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)
|
rs397508413
|
|
NM_000492.4(CFTR):c.264_268del (p.Leu88fs)
|
|
|
NM_000492.4(CFTR):c.2658-1G>C
|
rs397508416
|
|
NM_000492.4(CFTR):c.2658-1G>T
|
rs397508416
|
|
NM_000492.4(CFTR):c.2658-2A>G
|
rs1554390958
|
|
NM_000492.4(CFTR):c.2700T>A (p.Asn900Lys)
|
rs672601315
|
|
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
|
|
|
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)
|
rs397508422
|
|
NM_000492.4(CFTR):c.270del (p.Glu92fs)
|
|
|
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)
|
rs121908750
|
|
NM_000492.4(CFTR):c.273+2T>C
|
|
|
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.2739T>G (p.Tyr913Ter)
|
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.274-1G>T
|
rs121908792
|
|
NM_000492.4(CFTR):c.274-2A>C
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-2A>G
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-3397_489+710del
|
|
|
NM_000492.4(CFTR):c.274-5_274-2del
|
rs1584784850
|
|
NM_000492.4(CFTR):c.2742T>G (p.Tyr914Ter)
|
|
|
NM_000492.4(CFTR):c.2743_2745delinsA (p.Val915fs)
|
|
|
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.2755del (p.Tyr919fs)
|
|
|
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter)
|
rs1408746819
|
|
NM_000492.4(CFTR):c.275_489+1del
|
rs1562889180
|
|
NM_000492.4(CFTR):c.275_579+1del
|
|
|
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.2812dup (p.Val938fs)
|
rs1562911661
|
|
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)
|
rs397508440
|
|
NM_000492.4(CFTR):c.2818_2831del (p.Thr940fs)
|
|
|
NM_000492.4(CFTR):c.2818dup (p.Thr940fs)
|
|
|
NM_000492.4(CFTR):c.2822del (p.Leu941fs)
|
rs762844777
|
|
NM_000492.4(CFTR):c.2825del (p.Ile942fs)
|
rs397508441
|
|
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr)
|
rs121909035
|
|
NM_000492.4(CFTR):c.2848del (p.His950fs)
|
rs2116062196
|
|
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)
|
rs151048781
|
|
NM_000492.4(CFTR):c.2856G>T (p.Met952Ile)
|
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2872C>T (p.Gln958Ter)
|
rs2116062284
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs)
|
rs1562911739
|
|
NM_000492.4(CFTR):c.2885C>A (p.Ser962Ter)
|
|
|
NM_000492.4(CFTR):c.2896del (p.Thr966fs)
|
rs397508451
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2909-1G>C
|
rs397508456
|
|
NM_000492.4(CFTR):c.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
|
|
|
NM_000492.4(CFTR):c.2924_2925del (p.Arg975fs)
|
rs1584819340
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
|
|
|
NM_000492.4(CFTR):c.2956del (p.Leu986fs)
|
rs2116069671
|
|
NM_000492.4(CFTR):c.2958del (p.Leu987fs)
|
|
|
NM_000492.4(CFTR):c.2959_2960dup (p.Pro988fs)
|
rs2116069700
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
NM_000492.4(CFTR):c.2988+1G>T
|
rs75096551
|
|
NM_000492.4(CFTR):c.2988+2T>C
|
rs1792307406
|
|
NM_000492.4(CFTR):c.2T>A (p.Met1Lys)
|
rs397508476
|
|
NM_000492.4(CFTR):c.2T>G (p.Met1Arg)
|
rs397508476
|
|
NM_000492.4(CFTR):c.300_301del (p.Leu101fs)
|
rs2116669950
|
|
NM_000492.4(CFTR):c.303dup (p.Leu102fs)
|
rs397508486
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.307G>T (p.Gly103Ter)
|
rs1584784895
|
|
NM_000492.4(CFTR):c.308del (p.Gly103fs)
|
|
|
NM_000492.4(CFTR):c.310del (p.Arg104fs)
|
rs397508499
|
|
NM_000492.4(CFTR):c.313del (p.Ile105fs)
|
rs121908801
|
|
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn)
|
rs397508509
|
|
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer)
|
rs397508516
|
|
NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs)
|
rs121908798
|
|
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
|
|
NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer)
|
rs121908798
|
|
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.330C>G (p.Asp110Glu)
|
|
|
NM_000492.4(CFTR):c.332del (p.Pro111fs)
|
rs2116670123
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)
|
rs397508549
|
|
NM_000492.4(CFTR):c.3400_3401delinsGTA (p.Thr1134fs)
|
rs397508552
|
|
NM_000492.4(CFTR):c.3404T>A (p.Leu1135Ter)
|
rs1792456313
|
|
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
|
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs)
|
|
|
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs)
|
rs397508559
|
|
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter)
|
rs397508560
|
|
NM_000492.4(CFTR):c.3434G>A (p.Trp1145Ter)
|
|
|
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)
|
rs397508561
|
|
NM_000492.4(CFTR):c.3468+2T>C
|
rs1584824301
|
|
NM_000492.4(CFTR):c.3468+5G>A
|
rs1554392801
|
|
NM_000492.4(CFTR):c.3468_3468+6delinsATAAAAAGCTTATAAAAAG
|
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
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.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter)
|
rs387906379
|
|
NM_000492.4(CFTR):c.3495del (p.Lys1165fs)
|
rs1057516970
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
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.350G>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3525_3537del (p.Thr1176fs)
|
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)
|
rs121908782
|
|
NM_000492.4(CFTR):c.3539_3554del (p.Lys1180fs)
|
|
|
NM_000492.4(CFTR):c.3540del (p.Lys1180fs)
|
rs397508580
|
|
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter)
|
rs397508581
|
|
NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer)
|
rs1792671655
|
|
NM_000492.4(CFTR):c.354dup (p.Ile119fs)
|
|
|
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter)
|
rs397508582
|
|
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
|
NM_000492.4(CFTR):c.3571dup (p.Met1191fs)
|
|
|
NM_000492.4(CFTR):c.3598_3599delinsG (p.Lys1200fs)
|
rs1584830149
|
|
NM_000492.4(CFTR):c.3599_3600delinsG (p.Lys1200fs)
|
rs1584830154
|
|
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.3617C>A (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs)
|
rs397508589
|
|
NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)
|
|
|
NM_000492.4(CFTR):c.3623del (p.Gly1208fs)
|
rs35396083
|
|
NM_000492.4(CFTR):c.3623dup (p.Gln1209fs)
|
|
|
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)
|
rs79660178
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs)
|
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter)
|
rs121908766
|
|
NM_000492.4(CFTR):c.3717+1G>A
|
rs750558115
|
|
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.3718-1G>C
|
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3725del (p.Leu1242fs)
|
rs2116166673
|
|
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)
|
rs1562923164
|
|
NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg)
|
rs397508599
|
|
NM_000492.4(CFTR):c.3736del (p.Thr1246fs)
|
rs2116166758
|
|
NM_000492.4(CFTR):c.3739G>T (p.Gly1247Ter)
|
|
|
NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs)
|
rs2116166806
|
|
NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)
|
|
|
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3745G>C (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.3767dup (p.Leu1258fs)
|
rs387906370
|
|
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)
|
rs121908789
|
|
NM_000492.4(CFTR):c.3788del (p.Thr1263fs)
|
|
|
NM_000492.4(CFTR):c.3792del (p.Gly1265fs)
|
|
|
NM_000492.4(CFTR):c.3795del (p.Glu1266fs)
|
|
|
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)
|
rs1584837090
|
|
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn)
|
rs1562923253
|
|
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs)
|
rs397508612
|
|
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter)
|
rs397508613
|
|
NM_000492.4(CFTR):c.3829del (p.Ser1276_Ile1277insTer)
|
rs397508614
|
|
NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter)
|
rs1584837173
|
|
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.3848G>T (p.Arg1283Met)
|
rs77902683
|
|
NM_000492.4(CFTR):c.3857T>C (p.Phe1286Ser)
|
rs121909028
|
|
NM_000492.4(CFTR):c.3859G>T (p.Gly1287Ter)
|
rs1792936385
|
|
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)
|
rs397508620
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs)
|
rs1793108213
|
|
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs)
|
rs387906373
|
|
NM_000492.4(CFTR):c.3883del (p.Ile1295fs)
|
rs397508630
|
|
NM_000492.4(CFTR):c.3889del (p.Ser1297fs)
|
|
|
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.3907A>C (p.Asn1303His)
|
rs121909042
|
|
NM_000492.4(CFTR):c.3908del (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter)
|
rs193922732
|
|
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)
|
rs397508645
|
|
NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter)
|
|
|
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)
|
rs121909026
|
|
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)
|
rs754392413
|
|
NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter)
|
rs121909010
|
|
NM_000492.4(CFTR):c.3963+1G>A
|
rs672601314
|
|
NM_000492.4(CFTR):c.3963+2T>A
|
rs397508650
|
|
NM_000492.4(CFTR):c.3964-3C>G
|
rs397508652
|
|
NM_000492.4(CFTR):c.3966_4242+2del
|
rs1562928854
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3972del (p.Arg1325fs)
|
rs1584848754
|
|
NM_000492.4(CFTR):c.3976del (p.Ser1326fs)
|
rs397508654
|
|
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)
|
rs375661578
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.3999del (p.Lys1334fs)
|
rs886042527
|
|
NM_000492.4(CFTR):c.3G>A (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4028del (p.Gly1343fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)
|
rs1554397497
|
|
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs)
|
rs397508662
|
|
NM_000492.4(CFTR):c.4036dup (p.Leu1346fs)
|
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4051A>T (p.Lys1351Ter)
|
rs397508666
|
|
NM_000492.4(CFTR):c.4052del (p.Lys1351fs)
|
|
|
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter)
|
rs751098333
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer)
|
rs1562928927
|
|
NM_000492.4(CFTR):c.4071_4073delinsAA (p.Arg1358fs)
|
rs397508667
|
|
NM_000492.4(CFTR):c.4071del (p.Arg1358fs)
|
rs1584848901
|
|
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.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000492.4(CFTR):c.40A>T (p.Lys14Ter)
|
rs397508673
|
|
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
|
|
|
NM_000492.4(CFTR):c.410_416del (p.Leu137fs)
|
rs1584785072
|
|
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.4129G>C (p.Asp1377His)
|
rs150683293
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.4136+5G>A
|
rs1584849005
|
|
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.4168C>T (p.Gln1390Ter)
|
rs397508689
|
|
NM_000492.4(CFTR):c.416A>G (p.His139Arg)
|
rs76371115
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)
|
rs397508693
|
|
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer)
|
rs397508695
|
|
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter)
|
rs397508696
|
|
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter)
|
rs397508699
|
|
NM_000492.4(CFTR):c.4230C>A (p.Cys1410Ter)
|
|
|
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.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.424del (p.Ile142fs)
|
rs387906363
|
|
NM_000492.4(CFTR):c.429del (p.Phe143fs)
|
rs387906364
|
|
NM_000492.4(CFTR):c.433del (p.Leu145fs)
|
rs1562889382
|
|
NM_000492.4(CFTR):c.43del (p.Leu15fs)
|
rs397508715
|
|
NM_000492.4(CFTR):c.442del (p.Ile148fs)
|
rs121908770
|
|
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)
|
rs397508718
|
|
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)
|
rs1562876459
|
|
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter)
|
rs397508720
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.459_476del (p.Ala155_Ile160del)
|
rs387906371
|
|
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)
|
rs1554379887
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)
|
rs397508729
|
|
NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs)
|
rs1584785196
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.487A>G (p.Lys163Glu)
|
rs1798858347
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.489+1G>A
|
rs78756941
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+2T>G
|
rs397508732
|
|
NM_000492.4(CFTR):c.490-1G>T
|
rs397508734
|
|
NM_000492.4(CFTR):c.490-2A>G
|
rs397508735
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer)
|
rs397508737
|
|
NM_000492.4(CFTR):c.498del (p.Lys166fs)
|
|
|
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
|
|
|
NM_000492.4(CFTR):c.49_50dup (p.Trp19fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.4del (p.Gln2fs)
|
rs1562876396
|
|
NM_000492.4(CFTR):c.503C>G (p.Ser168Ter)
|
rs869249241
|
|
NM_000492.4(CFTR):c.50del (p.Phe17fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.51del (p.Phe17fs)
|
rs1317756653
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.53+2T>C
|
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.531dup (p.Gly178fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)
|
|
|
NM_000492.4(CFTR):c.54-1161_164+1603del
|
|
|
NM_000492.4(CFTR):c.54-1G>T
|
|
|
NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT
|
|
|
NM_000492.4(CFTR):c.543_546del (p.Leu183fs)
|
rs397508750
|
|
NM_000492.4(CFTR):c.544dup (p.Ser182fs)
|
rs1584786454
|
|
NM_000492.4(CFTR):c.551_555del (p.Leu184fs)
|
|
|
NM_000492.4(CFTR):c.558del (p.Asn186fs)
|
|
|
NM_000492.4(CFTR):c.560del (p.Asn187fs)
|
rs1562890223
|
|
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.579+1_579+2insACAT
|
rs2116675185
|
|
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)
|
rs397508762
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.580-2A>C
|
rs193922730
|
|
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)
|
rs376008630
|
|
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter)
|
rs376008630
|
|
NM_000492.4(CFTR):c.586dup (p.Ala196fs)
|
rs1584786892
|
|
NM_000492.4(CFTR):c.596A>G (p.His199Arg)
|
rs397508764
|
|
NM_000492.4(CFTR):c.601del (p.Val201fs)
|
rs397508767
|
|
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter)
|
rs397508768
|
|
NM_000492.4(CFTR):c.613C>A (p.Pro205Thr)
|
rs121908803
|
|
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)
|
rs397508771
|
|
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.668C>T (p.Ala223Val)
|
|
|
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
|
rs397508781
|
|
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg)
|
rs397508782
|
|
NM_000492.4(CFTR):c.708del (p.Gln237fs)
|
rs1299250440
|
|
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer)
|
rs1554380497
|
|
NM_000492.4(CFTR):c.71del (p.Ile23_Leu24insTer)
|
|
|
NM_000492.4(CFTR):c.723_743+1del
|
rs121908804
|
|
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs)
|
rs1057517342
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000492.4(CFTR):c.744-14_744-3del
|
rs387906367
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.755delinsGCTGGGAAGAT (p.Ala252fs)
|
rs1584787657
|
|
NM_000492.4(CFTR):c.761del (p.Lys254fs)
|
rs2116678523
|
|
NM_000492.4(CFTR):c.764del (p.Ile255fs)
|
|
|
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
|
|
|
NM_000492.4(CFTR):c.772del (p.Arg258fs)
|
|
|
NM_000492.4(CFTR):c.773del (p.Arg258fs)
|
rs397508794
|
|
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
|
|
|
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.805_806del (p.Ile269fs)
|
rs121908773
|
|
NM_000492.4(CFTR):c.808C>T (p.Gln270Ter)
|
rs1584787716
|
|
NM_000492.4(CFTR):c.810del (p.Gln270fs)
|
|
|
NM_000492.4(CFTR):c.811del (p.Ser271fs)
|
rs1554380789
|
|
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
|
rs397508799
|
|
NM_000492.4(CFTR):c.830G>A (p.Trp277Ter)
|
rs672601317
|
|
NM_000492.4(CFTR):c.831G>A (p.Trp277Ter)
|
rs2116678722
|
|
NM_000492.4(CFTR):c.844G>T (p.Glu282Ter)
|
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.860dup (p.Asn287fs)
|
rs387906380
|
|
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.869+3A>T
|
rs1554380828
|
|
NM_000492.4(CFTR):c.870-1113_870-1110del
|
rs397508809
|
|
NM_000492.4(CFTR):c.870-12T>A
|
|
|
NM_000492.4(CFTR):c.874G>T (p.Glu292Ter)
|
rs397508811
|
|
NM_000492.4(CFTR):c.874_875del (p.Glu292fs)
|
rs1799022949
|
|
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)
|
rs397508815
|
|
NM_000492.4(CFTR):c.892A>T (p.Lys298Ter)
|
rs1584789180
|
|
NM_000492.4(CFTR):c.89dup (p.Arg31fs)
|
rs2116635157
|
|
NM_000492.4(CFTR):c.902dup (p.Tyr301Ter)
|
|
|
NM_000492.4(CFTR):c.912C>G (p.Tyr304Ter)
|
rs397508816
|
|
NM_000492.4(CFTR):c.922_926del (p.Ser308fs)
|
rs2116683702
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.930del (p.Phe311fs)
|
rs1584789226
|
|
NM_000492.4(CFTR):c.933C>A (p.Phe311Leu)
|
|
|
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)
|
rs121909016
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000492.4(CFTR):c.948dup (p.Val317fs)
|
|
|
NM_000492.4(CFTR):c.959T>A (p.Leu320Ter)
|
rs397508820
|
|
NM_000492.4(CFTR):c.959del (p.Leu320fs)
|
rs1584789267
|
|
NM_000492.4(CFTR):c.960dup (p.Ser321fs)
|
|
|
NM_000492.4(CFTR):c.972del (p.Tyr325fs)
|
|
|
NM_000492.4(CFTR):c.987del (p.Gly330fs)
|
rs397508824
|
|
NM_000492.4(CFTR):c.9del (p.Arg3fs)
|
|
|
NM_000492.4(CFTR):c.[1210-34TG[12];1210-9_1210-6del]
|
|
|
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]
|
|
|
NM_000492.4:c.(1766+1_1767-1)_(2619+1_2620-1)del
|
|
|
NM_000492.4:c.(2619+1_2620-1)_(3367+1_3368-1)del
|
|
|
NM_000492.4:c.(273+1_274-1)_(1584+1_1585-1)del
|
|
|
NM_000492.4:c.(273+1_274-1)_(1679+1_1680-1)del
|
|
|
NM_000492.4:c.(2908+1_2909-1)_(4242+1_4243-1)del
|
|
|
NM_000492.4:c.(2988+1_2989-1)_(3367+1_3368-1)del
|
|
|
NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del
|
|
|
NM_000492.4:c.(3139+1_3140-1)_(3367+1_3368-1)del
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.4:c.(3873+1_3874-1)_(3963+1_3964-1)del
|
|
|
NM_000492.4:c.(3963+1_3964-1)_(*1_?)del
|
|
|
NM_000492.4:c.(4136+1_4137-1)_(4242+1_4243-1)del
|
|
|
NM_000492.4:c.(53+1_54-1)_(1209+1_1210+1)del
|
|
|
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)del
|
|
|
NM_000492.4:c.(743+1_744-1)_(1584+1_1585-1)dup
|
|
|
NM_000492.4:c.(?_-1)_(*1_?)del
|
|
|
NM_000492.4:c.53+9713_1392+2669del
|
|
|
NP_000483.3(CFTR):p.Tyr1092Ter
|
|
|
NP_000483.3:p.Ser549Arg
|
|
|
Single allele
|
|
|