NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)
|
rs142864834
|
0.00025
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)
|
rs150691494
|
0.00019
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000492.4(CFTR):c.2665C>T (p.Leu889Phe)
|
rs61738523
|
0.00015
|
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)
|
rs397508395
|
0.00013
|
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe)
|
rs1330281974
|
0.00013
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)
|
rs142432539
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr)
|
rs201016820
|
0.00011
|
NM_000492.3(CFTR):c.-165G>A
|
rs145483167
|
0.00010
|
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met)
|
rs397508359
|
0.00010
|
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val)
|
rs780187979
|
0.00010
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)
|
rs151020603
|
0.00009
|
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr)
|
rs143980575
|
0.00009
|
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)
|
rs374403559
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)
|
rs184724618
|
0.00008
|
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met)
|
rs576710089
|
0.00008
|
NM_000492.3(CFTR):c.-152G>C
|
rs551681003
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu)
|
rs78742051
|
0.00007
|
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)
|
rs377731410
|
0.00006
|
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00006
|
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)
|
rs368393738
|
0.00006
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)
|
rs772774651
|
0.00006
|
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro)
|
rs150177304
|
0.00006
|
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)
|
rs397508720
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000492.4(CFTR):c.662C>T (p.Ala221Val)
|
rs752432390
|
0.00006
|
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)
|
rs397508788
|
0.00006
|
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)
|
rs397508802
|
0.00006
|
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)
|
rs112162204
|
0.00006
|
NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys)
|
rs373998255
|
0.00006
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg)
|
rs375325315
|
0.00005
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)
|
rs148604667
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_000492.4(CFTR):c.3521A>C (p.Lys1174Thr)
|
rs137875514
|
0.00005
|
NM_000492.4(CFTR):c.104C>T (p.Ser35Leu)
|
rs1372627069
|
0.00004
|
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg)
|
rs200899224
|
0.00004
|
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe)
|
rs772223589
|
0.00004
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000492.4(CFTR):c.1807G>A (p.Val603Ile)
|
rs143036685
|
0.00004
|
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)
|
rs141880790
|
0.00004
|
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln)
|
rs369040061
|
0.00004
|
NM_000492.4(CFTR):c.26C>T (p.Ala9Val)
|
rs949472192
|
0.00004
|
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)
|
rs769448889
|
0.00004
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
NM_000492.4(CFTR):c.355A>G (p.Ile119Val)
|
rs193922518
|
0.00004
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_000492.4(CFTR):c.454A>T (p.Met152Leu)
|
rs397508721
|
0.00004
|
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)
|
rs200885306
|
0.00004
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
0.00004
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
NM_000492.4(CFTR):c.1199T>C (p.Phe400Ser)
|
rs1325574209
|
0.00003
|
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu)
|
rs748155731
|
0.00003
|
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser)
|
rs777850419
|
0.00003
|
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)
|
rs397508185
|
0.00003
|
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser)
|
rs139054556
|
0.00003
|
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)
|
rs397508210
|
0.00003
|
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)
|
rs773018372
|
0.00003
|
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser)
|
rs1276867493
|
0.00003
|
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)
|
rs762224063
|
0.00003
|
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln)
|
rs121909044
|
0.00003
|
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn)
|
rs780526529
|
0.00003
|
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn)
|
rs397508335
|
0.00003
|
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)
|
rs145449046
|
0.00003
|
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser)
|
rs138069616
|
0.00003
|
NM_000492.4(CFTR):c.246G>A (p.Met82Ile)
|
rs1159096947
|
0.00003
|
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys)
|
rs397508381
|
0.00003
|
NM_000492.4(CFTR):c.2495G>A (p.Cys832Tyr)
|
rs565589205
|
0.00003
|
NM_000492.4(CFTR):c.250T>C (p.Tyr84His)
|
rs745756794
|
0.00003
|
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser)
|
rs562851847
|
0.00003
|
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe)
|
rs149662778
|
0.00003
|
NM_000492.4(CFTR):c.2659A>C (p.Thr887Pro)
|
rs770359007
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu)
|
rs397508443
|
0.00003
|
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)
|
rs373561883
|
0.00003
|
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)
|
rs193922516
|
0.00003
|
NM_000492.4(CFTR):c.3239A>G (p.Lys1080Arg)
|
rs564165440
|
0.00003
|
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met)
|
rs143120209
|
0.00003
|
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu)
|
rs397508567
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln)
|
rs763401376
|
0.00003
|
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)
|
rs377295859
|
0.00003
|
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val)
|
rs773852510
|
0.00003
|
NM_000492.4(CFTR):c.377G>T (p.Gly126Val)
|
rs397508609
|
0.00003
|
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)
|
rs769931559
|
0.00003
|
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)
|
rs368427311
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu)
|
rs1397796355
|
0.00003
|
NM_000492.4(CFTR):c.511G>A (p.Val171Ile)
|
rs745468219
|
0.00003
|
NM_000492.4(CFTR):c.53+4A>T
|
rs372610364
|
0.00003
|
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr)
|
rs748026786
|
0.00003
|
NM_000492.4(CFTR):c.634A>G (p.Met212Val)
|
rs540269075
|
0.00003
|
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp)
|
rs773509355
|
0.00003
|
NM_000492.4(CFTR):c.1186A>T (p.Asn396Tyr)
|
rs753143757
|
0.00002
|
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)
|
rs370586917
|
0.00002
|
NM_000492.4(CFTR):c.1405A>G (p.Met469Val)
|
rs397508203
|
0.00002
|
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys)
|
rs138427145
|
0.00002
|
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)
|
rs374453187
|
0.00002
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys)
|
rs755986694
|
0.00002
|
NM_000492.4(CFTR):c.2490+5G>T
|
rs764466147
|
0.00002
|
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala)
|
rs761531223
|
0.00002
|
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser)
|
rs185397588
|
0.00002
|
NM_000492.4(CFTR):c.2882T>C (p.Met961Thr)
|
rs769377991
|
0.00002
|
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val)
|
rs759394109
|
0.00002
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp)
|
rs751474685
|
0.00002
|
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu)
|
rs752834717
|
0.00002
|
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr)
|
rs115762793
|
0.00002
|
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser)
|
rs747324955
|
0.00002
|
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser)
|
rs201686600
|
0.00002
|
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu)
|
rs578237673
|
0.00002
|
NM_000492.4(CFTR):c.4363T>G (p.Ser1455Ala)
|
rs748845320
|
0.00002
|
NM_000492.4(CFTR):c.4396G>T (p.Ala1466Ser)
|
rs199827645
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000492.4(CFTR):c.62G>T (p.Arg21Ile)
|
rs777520137
|
0.00002
|
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)
|
rs759726535
|
0.00002
|
NM_000492.4(CFTR):c.838G>T (p.Ala280Ser)
|
rs749377803
|
0.00002
|
NM_000492.4(CFTR):c.964G>A (p.Val322Met)
|
rs1800085
|
0.00002
|
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)
|
rs193922533
|
0.00002
|
NM_000492.4(CFTR):c.-602A>T
|
rs879620559
|
0.00001
|
NM_000492.4(CFTR):c.1003A>G (p.Lys335Glu)
|
rs1431852129
|
0.00001
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg)
|
rs768589673
|
0.00001
|
NM_000492.4(CFTR):c.1137A>C (p.Glu379Asp)
|
rs774308232
|
0.00001
|
NM_000492.4(CFTR):c.117A>C (p.Gln39His)
|
rs764522674
|
0.00001
|
NM_000492.4(CFTR):c.1209+6A>G
|
rs749054857
|
0.00001
|
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)
|
rs766063304
|
0.00001
|
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp)
|
rs765791986
|
0.00001
|
NM_000492.4(CFTR):c.1315C>A (p.Pro439Thr)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1340A>G (p.Lys447Arg)
|
rs746941790
|
0.00001
|
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr)
|
rs748642635
|
0.00001
|
NM_000492.4(CFTR):c.142A>C (p.Asn48His)
|
rs1248202161
|
0.00001
|
NM_000492.4(CFTR):c.1430C>A (p.Pro477His)
|
rs886044297
|
0.00001
|
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)
|
rs754152822
|
0.00001
|
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
NM_000492.4(CFTR):c.1504A>G (p.Ile502Val)
|
rs768243039
|
0.00001
|
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)
|
rs397508222
|
0.00001
|
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys)
|
rs1554384431
|
0.00001
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)
|
rs148173473
|
0.00001
|
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)
|
rs144745159
|
0.00001
|
NM_000492.4(CFTR):c.1618G>A (p.Val540Ile)
|
rs187318937
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.1732C>G (p.Leu578Val)
|
rs979121392
|
0.00001
|
NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser)
|
rs754945422
|
0.00001
|
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)
|
rs201978662
|
0.00001
|
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met)
|
rs1485998437
|
0.00001
|
NM_000492.4(CFTR):c.2068A>G (p.Thr690Ala)
|
rs780579840
|
0.00001
|
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val)
|
rs745538406
|
0.00001
|
NM_000492.4(CFTR):c.2120C>G (p.Ser707Cys)
|
rs1395267446
|
0.00001
|
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val)
|
rs200531709
|
0.00001
|
NM_000492.4(CFTR):c.2219C>T (p.Pro740Leu)
|
rs150772285
|
0.00001
|
NM_000492.4(CFTR):c.2251C>T (p.Arg751Cys)
|
rs772661780
|
0.00001
|
NM_000492.4(CFTR):c.2252G>A (p.Arg751His)
|
rs397508357
|
0.00001
|
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser)
|
rs766541549
|
0.00001
|
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln)
|
rs1417904716
|
0.00001
|
NM_000492.4(CFTR):c.2305G>A (p.Val769Ile)
|
rs1379518832
|
0.00001
|
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu)
|
rs397508365
|
0.00001
|
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro)
|
rs1291965190
|
0.00001
|
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe)
|
rs1314080734
|
0.00001
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser)
|
rs778688276
|
0.00001
|
NM_000492.4(CFTR):c.2482G>A (p.Asp828Asn)
|
rs759726447
|
0.00001
|
NM_000492.4(CFTR):c.256A>G (p.Ile86Val)
|
rs749432776
|
0.00001
|
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)
|
rs1310658028
|
0.00001
|
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val)
|
rs1472821278
|
0.00001
|
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)
|
rs397508418
|
0.00001
|
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)
|
rs766181463
|
0.00001
|
NM_000492.4(CFTR):c.2708A>G (p.Tyr903Cys)
|
rs147297080
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu)
|
rs770502501
|
0.00001
|
NM_000492.4(CFTR):c.2778G>T (p.Leu926Phe)
|
rs767910302
|
0.00001
|
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser)
|
rs750655055
|
0.00001
|
NM_000492.4(CFTR):c.2831T>C (p.Val944Ala)
|
rs141747560
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000492.4(CFTR):c.2860C>T (p.His954Tyr)
|
rs779528411
|
0.00001
|
NM_000492.4(CFTR):c.2908+4C>A
|
rs372266030
|
0.00001
|
NM_000492.4(CFTR):c.2929T>G (p.Ser977Ala)
|
rs137975784
|
0.00001
|
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met)
|
rs748430234
|
0.00001
|
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met)
|
rs370181570
|
0.00001
|
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys)
|
rs397508469
|
0.00001
|
NM_000492.4(CFTR):c.3013A>G (p.Ile1005Val)
|
rs1562914085
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3064G>A (p.Val1022Met)
|
rs144441835
|
0.00001
|
NM_000492.4(CFTR):c.3139+3A>G
|
rs950336425
|
0.00001
|
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)
|
rs140883683
|
0.00001
|
NM_000492.4(CFTR):c.3160C>T (p.His1054Tyr)
|
rs397508510
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln)
|
rs766126240
|
0.00001
|
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)
|
rs764434414
|
0.00001
|
NM_000492.4(CFTR):c.3308T>C (p.Ile1103Thr)
|
rs1161781532
|
0.00001
|
NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr)
|
rs751853765
|
0.00001
|
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly)
|
rs770241677
|
0.00001
|
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly)
|
rs397508549
|
0.00001
|
NM_000492.4(CFTR):c.3418A>G (p.Met1140Val)
|
rs774415786
|
0.00001
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
NM_000492.4(CFTR):c.3488T>G (p.Val1163Gly)
|
rs776696255
|
0.00001
|
NM_000492.4(CFTR):c.3511A>G (p.Thr1171Ala)
|
rs778797502
|
0.00001
|
NM_000492.4(CFTR):c.3562T>C (p.Ser1188Pro)
|
rs762167681
|
0.00001
|
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val)
|
rs75647395
|
0.00001
|
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp)
|
rs746103666
|
0.00001
|
NM_000492.4(CFTR):c.3642T>A (p.Asp1214Glu)
|
rs1584830230
|
0.00001
|
NM_000492.4(CFTR):c.3667G>A (p.Gly1223Arg)
|
rs1320914611
|
0.00001
|
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val)
|
rs770358073
|
0.00001
|
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg)
|
rs397508594
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe)
|
rs768411899
|
0.00001
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg)
|
rs766370233
|
0.00001
|
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr)
|
rs397508619
|
0.00001
|
NM_000492.4(CFTR):c.3895A>G (p.Thr1299Ala)
|
rs750604866
|
0.00001
|
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu)
|
rs193922732
|
0.00001
|
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)
|
rs397508646
|
0.00001
|
NM_000492.4(CFTR):c.3963+6G>T
|
rs1793110791
|
0.00001
|
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln)
|
rs1313341594
|
0.00001
|
NM_000492.4(CFTR):c.403A>T (p.Thr135Ser)
|
rs771512600
|
0.00001
|
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe)
|
rs755028771
|
0.00001
|
NM_000492.4(CFTR):c.4087A>C (p.Lys1363Gln)
|
rs1060503166
|
0.00001
|
NM_000492.4(CFTR):c.4109A>G (p.Asp1370Gly)
|
rs766124395
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu)
|
rs397508677
|
0.00001
|
NM_000492.4(CFTR):c.413T>C (p.Leu138Pro)
|
rs1800078
|
0.00001
|
NM_000492.4(CFTR):c.4142A>G (p.Tyr1381Cys)
|
rs776388660
|
0.00001
|
NM_000492.4(CFTR):c.4159A>G (p.Thr1387Ala)
|
rs1455404428
|
0.00001
|
NM_000492.4(CFTR):c.416A>C (p.His139Pro)
|
rs76371115
|
0.00001
|
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro)
|
rs375552160
|
0.00001
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly)
|
rs970498675
|
0.00001
|
NM_000492.4(CFTR):c.4230C>G (p.Cys1410Trp)
|
rs1165501753
|
0.00001
|
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu)
|
rs142092183
|
0.00001
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
NM_000492.4(CFTR):c.4265G>A (p.Arg1422Gln)
|
rs780785939
|
0.00001
|
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)
|
rs397508708
|
0.00001
|
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe)
|
rs762847468
|
0.00001
|
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)
|
rs750559671
|
0.00001
|
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln)
|
rs975983947
|
0.00001
|
NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr)
|
rs766659587
|
0.00001
|
NM_000492.4(CFTR):c.4383G>T (p.Lys1461Asn)
|
rs1562929623
|
0.00001
|
NM_000492.4(CFTR):c.441C>G (p.His147Gln)
|
rs759310470
|
0.00001
|
NM_000492.4(CFTR):c.4427A>G (p.Gln1476Arg)
|
rs1793396213
|
0.00001
|
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys)
|
rs1325117166
|
0.00001
|
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)
|
rs149197463
|
0.00001
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
NM_000492.4(CFTR):c.489+5T>C
|
rs1453085631
|
0.00001
|
NM_000492.4(CFTR):c.49T>C (p.Phe17Leu)
|
rs779256353
|
0.00001
|
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe)
|
rs1267579802
|
0.00001
|
NM_000492.4(CFTR):c.538C>G (p.Leu180Val)
|
rs374163420
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser)
|
rs397508772
|
0.00001
|
NM_000492.4(CFTR):c.70T>G (p.Leu24Val)
|
rs1056986309
|
0.00001
|
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)
|
rs758012554
|
0.00001
|
NM_000492.4(CFTR):c.841A>G (p.Met281Val)
|
rs755215339
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)
|
rs148013312
|
0.00001
|
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser)
|
rs760319837
|
0.00001
|
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg)
|
rs141115171
|
0.00001
|
NC_000007.13:g.(?_117118376)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117199476)_(117280016_?)dup
|
|
|
NC_000007.13:g.(?_117199498)_(117199729_?)dup
|
|
|
NC_000007.13:g.(?_117234964)_(117267864_?)dup
|
|
|
NC_000007.13:g.(?_117267556)_(117267869_?)dup
|
|
|
NC_000007.13:g.(?_117267556)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117267566)_(117267869_?)dup
|
|
|
NC_000007.13:g.(?_117280015)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117292849)_(117307162_?)dup
|
|
|
NC_000007.13:g.(?_117304722)_(117307162_?)dup
|
|
|
NC_000007.14:g.117479900C>A
|
|
|
NM_000492.3(CFTR):c.3376_3381delGAAGGA
|
rs1554392764
|
|
NM_000492.4(CFTR):c.-13C>A
|
|
|
NM_000492.4(CFTR):c.-2C>T
|
rs770363945
|
|
NM_000492.4(CFTR):c.-7A>T
|
|
|
NM_000492.4(CFTR):c.-8G>A
|
rs1800501
|
|
NM_000492.4(CFTR):c.1009T>C (p.Phe337Leu)
|
rs771716655
|
|
NM_000492.4(CFTR):c.1011C>G (p.Phe337Leu)
|
rs1799029121
|
|
NM_000492.4(CFTR):c.1016C>A (p.Thr339Asn)
|
|
|
NM_000492.4(CFTR):c.1051A>G (p.Thr351Ala)
|
rs1799031080
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1064C>T (p.Pro355Leu)
|
|
|
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
|
|
|
NM_000492.4(CFTR):c.1077A>G (p.Gln359=)
|
rs761324191
|
|
NM_000492.4(CFTR):c.1079C>T (p.Thr360Ile)
|
|
|
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
|
|
|
NM_000492.4(CFTR):c.109A>G (p.Ile37Val)
|
rs759721412
|
|
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg)
|
rs1799033866
|
|
NM_000492.4(CFTR):c.1116+6G>A
|
|
|
NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
|
|
|
NM_000492.4(CFTR):c.1153T>A (p.Tyr385Asn)
|
|
|
NM_000492.4(CFTR):c.1153T>C (p.Tyr385His)
|
rs1799062001
|
|
NM_000492.4(CFTR):c.1154A>G (p.Tyr385Cys)
|
rs1799062053
|
|
NM_000492.4(CFTR):c.1165A>T (p.Thr389Ser)
|
|
|
NM_000492.4(CFTR):c.116A>C (p.Gln39Pro)
|
|
|
NM_000492.4(CFTR):c.1178T>G (p.Val393Gly)
|
rs1799062903
|
|
NM_000492.4(CFTR):c.117A>T (p.Gln39His)
|
rs764522674
|
|
NM_000492.4(CFTR):c.1189G>C (p.Val397Leu)
|
rs1225700054
|
|
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)
|
rs146463120
|
|
NM_000492.4(CFTR):c.11C>T (p.Ser4Leu)
|
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTG
|
rs4148705
|
|
NM_000492.4(CFTR):c.1210-13_1210-8del
|
rs1399483116
|
|
NM_000492.4(CFTR):c.1210G>A (p.Gly404Arg)
|
|
|
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val)
|
rs1324302547
|
|
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu)
|
rs559197407
|
|
NM_000492.4(CFTR):c.1243A>G (p.Asn415Asp)
|
|
|
NM_000492.4(CFTR):c.1269T>A (p.Asn423Lys)
|
rs376039579
|
|
NM_000492.4(CFTR):c.1277A>G (p.Asp426Gly)
|
|
|
NM_000492.4(CFTR):c.1282C>G (p.Leu428Val)
|
|
|
NM_000492.4(CFTR):c.1283T>A (p.Leu428His)
|
rs2115903258
|
|
NM_000492.4(CFTR):c.1287C>A (p.Phe429Leu)
|
rs763577850
|
|
NM_000492.4(CFTR):c.1299C>A (p.Phe433Leu)
|
rs11531593
|
|
NM_000492.4(CFTR):c.1303C>G (p.Leu435Val)
|
|
|
NM_000492.4(CFTR):c.1304T>C (p.Leu435Pro)
|
|
|
NM_000492.4(CFTR):c.131A>T (p.Asp44Val)
|
|
|
NM_000492.4(CFTR):c.1328A>T (p.Asp443Val)
|
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met)
|
rs1799214404
|
|
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val)
|
rs1584793570
|
|
NM_000492.4(CFTR):c.1346A>G (p.Glu449Gly)
|
|
|
NM_000492.4(CFTR):c.1347A>T (p.Glu449Asp)
|
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr)
|
rs1799216405
|
|
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
|
|
|
NM_000492.4(CFTR):c.1393-3C>A
|
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
|
|
|
NM_000492.4(CFTR):c.1417G>A (p.Gly473Arg)
|
rs1799417518
|
|
NM_000492.4(CFTR):c.1420G>C (p.Glu474Gln)
|
|
|
NM_000492.4(CFTR):c.1423C>G (p.Leu475Val)
|
|
|
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu)
|
rs886044297
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1441A>G (p.Lys481Glu)
|
|
|
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val)
|
rs1799418782
|
|
NM_000492.4(CFTR):c.1451A>G (p.His484Arg)
|
rs1427892651
|
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
NM_000492.4(CFTR):c.1484C>G (p.Ser495Cys)
|
|
|
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)
|
rs1554384382
|
|
NM_000492.4(CFTR):c.1493T>C (p.Met498Thr)
|
|
|
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1496C>T (p.Pro499Leu)
|
rs1584798328
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1528G>T (p.Val510Phe)
|
rs752955846
|
|
NM_000492.4(CFTR):c.1535A>G (p.Tyr512Cys)
|
rs1048256995
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1585-9T>C
|
rs397508234
|
|
NM_000492.4(CFTR):c.1586A>G (p.Asp529Gly)
|
rs397508236
|
|
NM_000492.4(CFTR):c.1619T>C (p.Val540Ala)
|
|
|
NM_000492.4(CFTR):c.161A>C (p.Glu54Ala)
|
|
|
NM_000492.4(CFTR):c.164+3A>G
|
|
|
NM_000492.4(CFTR):c.164+6T>C
|
|
|
NM_000492.4(CFTR):c.164G>A (p.Arg55Lys)
|
|
|
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly)
|
rs74597325
|
|
NM_000492.4(CFTR):c.1675G>T (p.Ala559Ser)
|
rs75549581
|
|
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr)
|
rs1226880376
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1685T>C (p.Val562Ala)
|
rs1792006361
|
|
NM_000492.4(CFTR):c.1690A>G (p.Lys564Glu)
|
|
|
NM_000492.4(CFTR):c.1693G>T (p.Asp565Tyr)
|
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn)
|
rs397508282
|
|
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly)
|
rs1792007322
|
|
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
|
|
|
NM_000492.4(CFTR):c.1738G>A (p.Val580Ile)
|
rs2116025764
|
|
NM_000492.4(CFTR):c.1743A>T (p.Leu581Phe)
|
|
|
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg)
|
rs917625450
|
|
NM_000492.4(CFTR):c.1769G>A (p.Cys590Tyr)
|
rs1347776232
|
|
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
|
|
|
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro)
|
rs1554389245
|
|
NM_000492.4(CFTR):c.1810A>C (p.Thr604Pro)
|
rs1554389267
|
|
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)
|
rs397508310
|
|
NM_000492.4(CFTR):c.1840G>A (p.Asp614Asn)
|
rs397508312
|
|
NM_000492.4(CFTR):c.1846A>G (p.Ile616Val)
|
|
|
NM_000492.4(CFTR):c.1848A>G (p.Ile616Met)
|
|
|
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro)
|
rs1584776330
|
|
NM_000492.4(CFTR):c.184G>T (p.Ala62Ser)
|
rs1584776330
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
|
|
|
NM_000492.4(CFTR):c.1874A>C (p.Tyr625Ser)
|
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys)
|
rs397508320
|
|
NM_000492.4(CFTR):c.1920T>G (p.Phe640Leu)
|
|
|
NM_000492.4(CFTR):c.1936G>A (p.Gly646Arg)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
NM_000492.4(CFTR):c.1960A>T (p.Ser654Cys)
|
rs1800099
|
|
NM_000492.4(CFTR):c.1966G>C (p.Glu656Gln)
|
|
|
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp)
|
rs1060503163
|
|
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val)
|
rs777973729
|
|
NM_000492.4(CFTR):c.1990G>C (p.Glu664Gln)
|
|
|
NM_000492.4(CFTR):c.1992G>T (p.Glu664Asp)
|
rs1792036683
|
|
NM_000492.4(CFTR):c.2005T>C (p.Phe669Leu)
|
rs2116031296
|
|
NM_000492.4(CFTR):c.2009C>T (p.Ser670Leu)
|
|
|
NM_000492.4(CFTR):c.2014G>A (p.Glu672Lys)
|
|
|
NM_000492.4(CFTR):c.2015_2017del (p.Glu672del)
|
rs397508330
|
|
NM_000492.4(CFTR):c.2017G>A (p.Gly673Arg)
|
|
|
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)
|
rs762888022
|
|
NM_000492.4(CFTR):c.2052A>T (p.Lys684Asn)
|
rs750642366
|
|
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile)
|
rs372421038
|
|
NM_000492.4(CFTR):c.2072G>T (p.Gly691Val)
|
|
|
NM_000492.4(CFTR):c.2083G>A (p.Glu695Lys)
|
|
|
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg)
|
rs397508340
|
|
NM_000492.4(CFTR):c.2108A>T (p.Asn703Ile)
|
|
|
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
|
|
|
NM_000492.4(CFTR):c.2129A>G (p.Lys710Arg)
|
rs2116032036
|
|
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser)
|
rs1003610229
|
|
NM_000492.4(CFTR):c.2131T>C (p.Phe711Leu)
|
rs1792042320
|
|
NM_000492.4(CFTR):c.2140G>T (p.Val714Leu)
|
rs774199624
|
|
NM_000492.4(CFTR):c.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln)
|
rs2116032118
|
|
NM_000492.4(CFTR):c.2188G>A (p.Glu730Lys)
|
|
|
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
|
|
|
NM_000492.4(CFTR):c.2205G>C (p.Arg735Ser)
|
rs2116032368
|
|
NM_000492.4(CFTR):c.2225C>T (p.Ser742Phe)
|
|
|
NM_000492.4(CFTR):c.2231A>C (p.Gln744Pro)
|
|
|
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)
|
rs397508357
|
|
NM_000492.4(CFTR):c.227G>T (p.Cys76Phe)
|
|
|
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr)
|
rs2116032836
|
|
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp)
|
rs777536750
|
|
NM_000492.4(CFTR):c.2321C>G (p.Thr774Arg)
|
|
|
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
|
|
|
NM_000492.4(CFTR):c.2354G>C (p.Arg785Pro)
|
|
|
NM_000492.4(CFTR):c.2358G>C (p.Lys786Asn)
|
|
|
NM_000492.4(CFTR):c.2360C>A (p.Thr787Lys)
|
rs2116033185
|
|
NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)
|
|
|
NM_000492.4(CFTR):c.2389G>T (p.Ala797Ser)
|
|
|
NM_000492.4(CFTR):c.2399C>T (p.Ala800Val)
|
|
|
NM_000492.4(CFTR):c.2403C>G (p.Asn801Lys)
|
|
|
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr)
|
rs1554389471
|
|
NM_000492.4(CFTR):c.2426C>T (p.Ser809Leu)
|
|
|
NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr)
|
rs1798471062
|
|
NM_000492.4(CFTR):c.2434T>A (p.Leu812Ile)
|
|
|
NM_000492.4(CFTR):c.243T>G (p.Phe81Leu)
|
|
|
NM_000492.4(CFTR):c.244A>G (p.Met82Val)
|
rs1554376431
|
|
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
|
|
|
NM_000492.4(CFTR):c.2478AGA[1] (p.Glu827del)
|
rs2116034014
|
|
NM_000492.4(CFTR):c.2483A>G (p.Asp828Gly)
|
|
|
NM_000492.4(CFTR):c.2490G>A (p.Lys830=)
|
|
|
NM_000492.4(CFTR):c.249C>G (p.Phe83Leu)
|
|
|
NM_000492.4(CFTR):c.2503G>A (p.Asp835Asn)
|
rs2116039305
|
|
NM_000492.4(CFTR):c.2515A>C (p.Ser839Arg)
|
rs2116039371
|
|
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile)
|
rs1792097477
|
|
NM_000492.4(CFTR):c.2545T>A (p.Tyr849Asn)
|
rs757165481
|
|
NM_000492.4(CFTR):c.2546A>G (p.Tyr849Cys)
|
rs780811333
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)
|
rs1584813846
|
|
NM_000492.4(CFTR):c.2570A>G (p.Lys857Arg)
|
rs1584813860
|
|
NM_000492.4(CFTR):c.2573G>A (p.Ser858Asn)
|
rs2116039677
|
|
NM_000492.4(CFTR):c.257T>A (p.Ile86Asn)
|
rs1798471787
|
|
NM_000492.4(CFTR):c.2626G>A (p.Ala876Thr)
|
rs1328356747
|
|
NM_000492.4(CFTR):c.2626G>T (p.Ala876Ser)
|
|
|
NM_000492.4(CFTR):c.2636T>A (p.Val879Asp)
|
|
|
NM_000492.4(CFTR):c.2657+3G>C
|
|
|
NM_000492.4(CFTR):c.2657+3G>T
|
|
|
NM_000492.4(CFTR):c.2658-12T>G
|
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
|
|
|
NM_000492.4(CFTR):c.2683A>G (p.Ser895Gly)
|
rs1792256745
|
|
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2692A>G (p.Ser898Gly)
|
|
|
NM_000492.4(CFTR):c.2705G>C (p.Ser902Thr)
|
rs2116061306
|
|
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
|
|
|
NM_000492.4(CFTR):c.274-5T>A
|
rs1454461758
|
|
NM_000492.4(CFTR):c.2750A>G (p.Tyr917Cys)
|
rs397508428
|
|
NM_000492.4(CFTR):c.2752A>T (p.Ile918Phe)
|
rs1267646551
|
|
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn)
|
rs1033530699
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.2764G>A (p.Val922Ile)
|
rs1792259336
|
|
NM_000492.4(CFTR):c.2770G>C (p.Asp924His)
|
rs201759207
|
|
NM_000492.4(CFTR):c.2773A>G (p.Thr925Ala)
|
rs1423162478
|
|
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser)
|
rs397508437
|
|
NM_000492.4(CFTR):c.280A>C (p.Thr94Pro)
|
rs1434378124
|
|
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu)
|
rs749784731
|
|
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu)
|
rs749784731
|
|
NM_000492.4(CFTR):c.284A>G (p.Lys95Arg)
|
|
|
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
|
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
|
|
|
NM_000492.4(CFTR):c.2908+3_2908+14del
|
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe)
|
rs397508459
|
|
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro)
|
rs397508460
|
|
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)
|
rs137975784
|
|
NM_000492.4(CFTR):c.2933A>G (p.Lys978Arg)
|
|
|
NM_000492.4(CFTR):c.2935G>T (p.Asp979Tyr)
|
|
|
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn)
|
rs764644021
|
|
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala)
|
rs1031657153
|
|
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu)
|
rs1792306616
|
|
NM_000492.4(CFTR):c.2974T>C (p.Phe992Leu)
|
rs1043006335
|
|
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
|
|
|
NM_000492.4(CFTR):c.2988+33G>T
|
|
|
NM_000492.4(CFTR):c.2989-3C>T
|
|
|
NM_000492.4(CFTR):c.2992T>A (p.Leu998Ile)
|
rs2116080345
|
|
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)
|
rs762241850
|
|
NM_000492.4(CFTR):c.29G>C (p.Ser10Thr)
|
rs762241850
|
|
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)
|
rs193922731
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu)
|
rs144441835
|
|
NM_000492.4(CFTR):c.3065T>C (p.Val1022Ala)
|
|
|
NM_000492.4(CFTR):c.3099C>A (p.Phe1033Leu)
|
|
|
NM_000492.4(CFTR):c.3100C>T (p.Leu1034Phe)
|
rs1554392043
|
|
NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg)
|
rs1792369943
|
|
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
|
|
|
NM_000492.4(CFTR):c.3139G>A (p.Gly1047Ser)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)
|
rs397508504
|
|
NM_000492.4(CFTR):c.313A>C (p.Ile105Leu)
|
rs758675549
|
|
NM_000492.4(CFTR):c.3140-11A>G
|
|
|
NM_000492.4(CFTR):c.3140-4A>G
|
rs397508507
|
|
NM_000492.4(CFTR):c.3148C>G (p.Pro1050Ala)
|
|
|
NM_000492.4(CFTR):c.3157A>T (p.Thr1053Ser)
|
rs1792386620
|
|
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu)
|
rs1417435640
|
|
NM_000492.4(CFTR):c.3162T>A (p.His1054Gln)
|
|
|
NM_000492.4(CFTR):c.316A>G (p.Ile106Val)
|
rs1024092547
|
|
NM_000492.4(CFTR):c.3178A>G (p.Lys1060Glu)
|
rs1244798983
|
|
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
|
|
|
NM_000492.4(CFTR):c.3185T>C (p.Leu1062Pro)
|
rs2116084329
|
|
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)
|
rs121909020
|
|
NM_000492.4(CFTR):c.3202T>G (p.Phe1068Val)
|
|
|
NM_000492.4(CFTR):c.3226A>G (p.Thr1076Ala)
|
|
|
NM_000492.4(CFTR):c.322T>C (p.Ser108Pro)
|
|
|
NM_000492.4(CFTR):c.3254A>C (p.His1085Pro)
|
rs79635528
|
|
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)
|
rs373043500
|
|
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)
|
rs373043500
|
|
NM_000492.4(CFTR):c.3290G>C (p.Arg1097Pro)
|
|
|
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)
|
rs36210737
|
|
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile)
|
rs777445862
|
|
NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile)
|
rs1792392768
|
|
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)
|
rs1584822486
|
|
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser)
|
rs1792393459
|
|
NM_000492.4(CFTR):c.3340G>C (p.Val1114Leu)
|
|
|
NM_000492.4(CFTR):c.3349A>C (p.Ile1117Leu)
|
|
|
NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del)
|
rs1554392295
|
|
NM_000492.4(CFTR):c.3364A>G (p.Thr1122Ala)
|
rs1584822533
|
|
NM_000492.4(CFTR):c.3367+3A>G
|
rs1194763712
|
|
NM_000492.4(CFTR):c.3368-3T>C
|
rs2116096154
|
|
NM_000492.4(CFTR):c.3374G>A (p.Gly1125Glu)
|
|
|
NM_000492.4(CFTR):c.3385G>C (p.Val1129Leu)
|
rs2116096247
|
|
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)
|
rs397508550
|
|
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
|
|
|
NM_000492.4(CFTR):c.3418A>T (p.Met1140Leu)
|
|
|
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile)
|
rs1554392775
|
|
NM_000492.4(CFTR):c.3449G>C (p.Ser1150Thr)
|
rs1792458131
|
|
NM_000492.4(CFTR):c.3452T>A (p.Ile1151Lys)
|
rs1584824269
|
|
NM_000492.4(CFTR):c.3469-3C>A
|
|
|
NM_000492.4(CFTR):c.3469-5T>C
|
|
|
NM_000492.4(CFTR):c.346G>C (p.Glu116Gln)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3471G>A (p.Met1157Ile)
|
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3494A>C (p.Lys1165Thr)
|
rs753508195
|
|
NM_000492.4(CFTR):c.3498C>G (p.Phe1166Leu)
|
rs1792670307
|
|
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn)
|
rs2116129005
|
|
NM_000492.4(CFTR):c.3508C>T (p.Pro1170Ser)
|
rs1792670534
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3514G>C (p.Glu1172Gln)
|
|
|
NM_000492.4(CFTR):c.3529A>G (p.Lys1177Glu)
|
rs397508578
|
|
NM_000492.4(CFTR):c.3544T>C (p.Tyr1182His)
|
rs770167300
|
|
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu)
|
rs1036123285
|
|
NM_000492.4(CFTR):c.3574A>T (p.Ile1192Phe)
|
rs1792672546
|
|
NM_000492.4(CFTR):c.3590A>G (p.His1197Arg)
|
rs765133036
|
|
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu)
|
rs765133036
|
|
NM_000492.4(CFTR):c.359C>T (p.Ala120Val)
|
rs1265244783
|
|
NM_000492.4(CFTR):c.361A>G (p.Ile121Val)
|
rs574654063
|
|
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu)
|
rs151264397
|
|
NM_000492.4(CFTR):c.3637A>C (p.Lys1213Gln)
|
|
|
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn)
|
rs397508592
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
NM_000492.4(CFTR):c.3676A>G (p.Ile1226Val)
|
rs2116129961
|
|
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser)
|
rs397508593
|
|
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
|
|
|
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro)
|
rs1792676456
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3722G>A (p.Gly1241Asp)
|
|
|
NM_000492.4(CFTR):c.372C>T (p.Gly124=)
|
rs1060503162
|
|
NM_000492.4(CFTR):c.3740G>A (p.Gly1247Glu)
|
|
|
NM_000492.4(CFTR):c.3749_3751dup (p.Lys1250dup)
|
rs1584836961
|
|
NM_000492.4(CFTR):c.3752G>C (p.Ser1251Thr)
|
|
|
NM_000492.4(CFTR):c.3767C>G (p.Ala1256Gly)
|
rs773852510
|
|
NM_000492.4(CFTR):c.3776G>C (p.Arg1259Thr)
|
rs1470171438
|
|
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala)
|
rs397508609
|
|
NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu)
|
rs1554395370
|
|
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val)
|
rs1554395370
|
|
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met)
|
rs1800129
|
|
NM_000492.4(CFTR):c.3829A>G (p.Ile1277Val)
|
|
|
NM_000492.4(CFTR):c.3836T>C (p.Leu1279Ser)
|
rs1286786026
|
|
NM_000492.4(CFTR):c.3842A>G (p.Gln1281Arg)
|
rs752127256
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser)
|
rs1792935893
|
|
NM_000492.4(CFTR):c.3853G>A (p.Ala1285Thr)
|
rs868174013
|
|
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg)
|
rs1792936385
|
|
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser)
|
rs397508619
|
|
NM_000492.4(CFTR):c.388C>G (p.Leu130Val)
|
rs397508632
|
|
NM_000492.4(CFTR):c.3904A>G (p.Lys1302Glu)
|
|
|
NM_000492.4(CFTR):c.3910T>G (p.Leu1304Val)
|
|
|
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)
|
rs1793109904
|
|
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met)
|
rs1554396417
|
|
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu)
|
rs397508649
|
|
NM_000492.4(CFTR):c.3963+5G>C
|
|
|
NM_000492.4(CFTR):c.3964-16T>G
|
|
|
NM_000492.4(CFTR):c.3964G>T (p.Val1322Phe)
|
|
|
NM_000492.4(CFTR):c.3965T>A (p.Val1322Asp)
|
|
|
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser)
|
rs1793339514
|
|
NM_000492.4(CFTR):c.3980T>C (p.Val1327Ala)
|
|
|
NM_000492.4(CFTR):c.3980T>G (p.Val1327Gly)
|
|
|
NM_000492.4(CFTR):c.3989A>G (p.Gln1330Arg)
|
|
|
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile)
|
rs1369611499
|
|
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val)
|
rs397508659
|
|
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe)
|
rs397508660
|
|
NM_000492.4(CFTR):c.4018G>C (p.Val1340Leu)
|
rs1554397492
|
|
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys)
|
rs1584785049
|
|
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp)
|
rs773458471
|
|
NM_000492.4(CFTR):c.4028G>C (p.Gly1343Ala)
|
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr)
|
rs755993775
|
|
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg)
|
rs755993775
|
|
NM_000492.4(CFTR):c.407T>C (p.Leu136Pro)
|
rs1798854681
|
|
NM_000492.4(CFTR):c.4081C>G (p.Leu1361Val)
|
rs772157232
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.40A>C (p.Lys14Gln)
|
|
|
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly)
|
rs115147093
|
|
NM_000492.4(CFTR):c.4135G>C (p.Val1379Leu)
|
|
|
NM_000492.4(CFTR):c.4136+5G>A
|
rs1584849005
|
|
NM_000492.4(CFTR):c.4136+6T>A
|
rs969884170
|
|
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His)
|
rs397508682
|
|
NM_000492.4(CFTR):c.4142A>T (p.Tyr1381Phe)
|
|
|
NM_000492.4(CFTR):c.4147A>G (p.Ile1383Val)
|
|
|
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro)
|
rs397508688
|
|
NM_000492.4(CFTR):c.4178C>G (p.Ala1393Gly)
|
rs2116222697
|
|
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
|
|
|
NM_000492.4(CFTR):c.419C>G (p.Pro140Arg)
|
|
|
NM_000492.4(CFTR):c.419C>T (p.Pro140Leu)
|
rs397508694
|
|
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly)
|
rs397508697
|
|
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
|
|
|
NM_000492.4(CFTR):c.4242+6T>C
|
rs1562929200
|
|
NM_000492.4(CFTR):c.4244T>G (p.Val1415Gly)
|
rs779591474
|
|
NM_000492.4(CFTR):c.4248A>T (p.Ile1416=)
|
|
|
NM_000492.4(CFTR):c.424A>G (p.Ile142Val)
|
rs1562889369
|
|
NM_000492.4(CFTR):c.4251A>C (p.Glu1417Asp)
|
rs1793384834
|
|
NM_000492.4(CFTR):c.4256A>T (p.Asn1419Ile)
|
rs1461912555
|
|
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp)
|
rs373172017
|
|
NM_000492.4(CFTR):c.4266G>T (p.Arg1422=)
|
rs545385510
|
|
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)
|
rs762847468
|
|
NM_000492.4(CFTR):c.4292T>G (p.Leu1431Arg)
|
|
|
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys)
|
rs761669740
|
|
NM_000492.4(CFTR):c.4298A>G (p.Glu1433Gly)
|
|
|
NM_000492.4(CFTR):c.4304G>A (p.Ser1435Asn)
|
|
|
NM_000492.4(CFTR):c.4305C>G (p.Ser1435Arg)
|
|
|
NM_000492.4(CFTR):c.4325G>C (p.Ser1442Thr)
|
|
|
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser)
|
rs1336644939
|
|
NM_000492.4(CFTR):c.4328C>G (p.Pro1443Arg)
|
|
|
NM_000492.4(CFTR):c.4336A>G (p.Arg1446Gly)
|
rs985995406
|
|
NM_000492.4(CFTR):c.4357C>G (p.Arg1453Gly)
|
rs4148725
|
|
NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)
|
|
|
NM_000492.4(CFTR):c.4368C>G (p.Ser1456Arg)
|
rs1793394598
|
|
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro)
|
rs758818611
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
NM_000492.4(CFTR):c.44T>A (p.Leu15His)
|
|
|
NM_000492.4(CFTR):c.450G>A (p.Met150Ile)
|
|
|
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly)
|
rs1554379882
|
|
NM_000492.4(CFTR):c.472A>G (p.Ser158Gly)
|
|
|
NM_000492.4(CFTR):c.488A>T (p.Lys163Met)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn)
|
rs2116674891
|
|
NM_000492.4(CFTR):c.508C>A (p.Arg170Ser)
|
rs578029902
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
NM_000492.4(CFTR):c.518A>T (p.Asp173Val)
|
|
|
NM_000492.4(CFTR):c.527G>T (p.Ser176Ile)
|
|
|
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
|
|
|
NM_000492.4(CFTR):c.53+3G>C
|
rs1797978937
|
|
NM_000492.4(CFTR):c.574G>C (p.Asp192His)
|
|
|
NM_000492.4(CFTR):c.580-3C>T
|
rs2116676312
|
|
NM_000492.4(CFTR):c.580G>C (p.Gly194Arg)
|
|
|
NM_000492.4(CFTR):c.587C>T (p.Ala196Val)
|
rs1204822296
|
|
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr)
|
rs193922529
|
|
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)
|
rs193922529
|
|
NM_000492.4(CFTR):c.600C>A (p.Phe200Leu)
|
|
|
NM_000492.4(CFTR):c.609C>G (p.Ile203Met)
|
rs1800081
|
|
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg)
|
rs397508769
|
|
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe)
|
rs397508770
|
|
NM_000492.4(CFTR):c.640C>G (p.Leu214Val)
|
rs188457893
|
|
NM_000492.4(CFTR):c.662C>A (p.Ala221Glu)
|
|
|
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp)
|
rs769016520
|
|
NM_000492.4(CFTR):c.710A>C (p.Gln237Pro)
|
|
|
NM_000492.4(CFTR):c.711G>C (p.Gln237His)
|
rs397508785
|
|
NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
|
|
|
NM_000492.4(CFTR):c.721G>T (p.Gly241Trp)
|
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000492.4(CFTR):c.745G>T (p.Asp249Tyr)
|
|
|
NM_000492.4(CFTR):c.754G>A (p.Ala252Thr)
|
rs748582435
|
|
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg)
|
rs1343896905
|
|
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly)
|
rs773790621
|
|
NM_000492.4(CFTR):c.770A>G (p.Glu257Gly)
|
|
|
NM_000492.4(CFTR):c.773G>A (p.Arg258Lys)
|
rs377514639
|
|
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe)
|
rs762640483
|
|
NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)
|
|
|
NM_000492.4(CFTR):c.851T>C (p.Met284Thr)
|
rs2116678778
|
|
NM_000492.4(CFTR):c.860A>G (p.Asn287Ser)
|
|
|
NM_000492.4(CFTR):c.869A>T (p.Gln290Leu)
|
|
|
NM_000492.4(CFTR):c.870-1110T>C
|
|
|
NM_000492.4(CFTR):c.875A>G (p.Glu292Gly)
|
rs1799023050
|
|
NM_000492.4(CFTR):c.878T>G (p.Leu293Arg)
|
|
|
NM_000492.4(CFTR):c.899C>G (p.Ala300Gly)
|
|
|
NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
|
NM_000492.4(CFTR):c.932T>G (p.Phe311Cys)
|
rs1584789230
|
|
NM_000492.4(CFTR):c.940G>T (p.Gly314Trp)
|
rs397508819
|
|
NM_000492.4(CFTR):c.941G>C (p.Gly314Ala)
|
rs75763344
|
|
NM_000492.4(CFTR):c.944T>G (p.Phe315Cys)
|
|
|
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe)
|
rs56093012
|
|
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu)
|
rs397508822
|
|