ClinVar Miner

List of variants in gene CFTR reported as uncertain significance for Cystic fibrosis

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Gene type:
ClinVar version:
Total variants: 1426
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.53+324A>G rs78171410 0.00590
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.53+8298C>G rs35616800 0.00361
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.2620-15C>G rs139379077 0.00212
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000492.4(CFTR):c.*684A>G rs146818281 0.00153
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000492.4(CFTR):c.3718-3630G>T rs142677818 0.00117
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.1210-11_1210-10insG rs551227135 0.00072
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000492.4(CFTR):c.3717+5793G>T rs567468206 0.00061
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_000492.4(CFTR):c.*94C>T rs144214399 0.00051
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.2620-583C>T rs781023677 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) rs145540754 0.00031
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
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.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.3963+69A>G rs540577876 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.489+3A>G rs377729736 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.2559T>C (p.Ile853=) rs1800104 0.00014
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.4092G>A (p.Ala1364=) rs148878126 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.2620-97C>T rs146376436 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr) rs201016820 0.00011
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.2957T>C (p.Leu986Pro) rs565971160 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.1584+4119C>T rs983323581 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 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.3592G>A (p.Val1198Met) rs576710089 0.00008
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 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.1584+3292A>G rs147176173 0.00006
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys) rs377731410 0.00006
NM_000492.4(CFTR):c.2145A>C (p.Gln715His) rs141235765 0.00006
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=) rs375845215 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.3964-16T>C rs199672530 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.3874-4A>G rs201381687 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.1585-2061G>C rs187146610 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.202A>G (p.Lys68Glu) rs397508332 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.2490+14G>T rs573016418 0.00004
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile) rs397508397 0.00004
NM_000492.4(CFTR):c.26C>T (p.Ala9Val) rs949472192 0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994 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.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.3964-28G>A rs397508651 0.00004
NM_000492.4(CFTR):c.4096A>T (p.Ile1366Phe) rs770345073 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.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000492.4(CFTR):c.*124_*125insC rs1554397824 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.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.1472G>T (p.Cys491Phe) rs778205742 0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys) rs773018372 0.00003
NM_000492.4(CFTR):c.1907T>C (p.Leu636Pro) rs374702882 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.2813T>G (p.Val938Gly) rs193922511 0.00003
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu) rs397508443 0.00003
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys) rs779569793 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) rs373561883 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.3933T>G (p.Ser1311Arg) rs962313398 0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286 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.511G>A (p.Val171Ile) rs745468219 0.00003
NM_000492.4(CFTR):c.53+4A>T rs372610364 0.00003
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys) rs397508754 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.674G>A (p.Cys225Tyr) rs866473559 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.2259C>T (p.Ser753=) rs201888075 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.2713G>C (p.Val905Leu) rs886186687 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.2908+19G>C rs370683572 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly) rs150326506 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.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.869+8G>T rs773933167 0.00002
NM_000492.4(CFTR):c.917A>G (p.Asn306Ser) rs746375310 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.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.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) rs766063304 0.00001
NM_000492.4(CFTR):c.1258A>G (p.Lys420Glu) rs377629509 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.1315C>T (p.Pro439Ser) 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.1394C>A (p.Thr465Asn) rs758900656 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.149C>A (p.Ser50Tyr) rs397508220 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.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1543T>C (p.Tyr515His) rs778175128 0.00001
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys) rs1554384431 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 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.1792A>G (p.Lys598Glu) rs397508302 0.00001
NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser) rs754945422 0.00001
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe) rs1048183757 0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr) rs201978662 0.00001
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser) rs1368033715 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.2126G>A (p.Arg709Gln) rs397508342 0.00001
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val) rs200531709 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 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.2323C>T (p.His775Tyr) rs748045283 0.00001
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu) rs397508365 0.00001
NM_000492.4(CFTR):c.232T>C (p.Phe78Leu) rs1181846000 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.2410G>A (p.Glu804Lys) rs1792049376 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 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.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2505T>C (p.Asp835=) rs761043298 0.00001
NM_000492.4(CFTR):c.2526A>G (p.Ala842=) rs758128209 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.2679G>T (p.Gly893=) rs397508419 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.273+4A>G rs387906374 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.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser) rs750655055 0.00001
NM_000492.4(CFTR):c.2815C>G (p.His939Asp) rs397508439 0.00001
NM_000492.4(CFTR):c.281C>T (p.Thr94Ile) rs767204327 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.2876C>T (p.Ala959Val) rs397508448 0.00001
NM_000492.4(CFTR):c.2908+4C>A rs372266030 0.00001
NM_000492.4(CFTR):c.290T>C (p.Val97Ala) rs1235363099 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.335A>G (p.Asp112Gly) rs770241677 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 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.3391A>G (p.Ile1131Val) rs755472768 0.00001
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044 0.00001
NM_000492.4(CFTR):c.3410T>C (p.Met1137Thr) rs397508555 0.00001
NM_000492.4(CFTR):c.3418A>G (p.Met1140Val) rs774415786 0.00001
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565 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.3682G>C (p.Glu1228Gln) rs759116351 0.00001
NM_000492.4(CFTR):c.3709G>A (p.Gly1237Ser) rs1554394076 0.00001
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg) rs397508594 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 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.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.3874-14C>G rs184271150 0.00001
NM_000492.4(CFTR):c.3893G>T (p.Gly1298Val) rs193922522 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.3988C>G (p.Gln1330Glu) rs375661578 0.00001
NM_000492.4(CFTR):c.4033G>A (p.Val1345Ile) rs1371379517 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.4048C>T (p.His1350Tyr) rs955306189 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.40A>G (p.Lys14Glu) rs397508673 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.4143C>T (p.Tyr1381=) rs397508683 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.4225G>A (p.Glu1409Lys) rs397508699 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.436C>T (p.His146Tyr) rs1798856136 0.00001
NM_000492.4(CFTR):c.441C>G (p.His147Gln) rs759310470 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.476T>C (p.Leu159Ser) rs397508727 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.514C>A (p.Leu172Ile) rs769606990 0.00001
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe) rs1267579802 0.00001
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr) rs397508747 0.00001
NM_000492.4(CFTR):c.538C>G (p.Leu180Val) rs374163420 0.00001
NM_000492.4(CFTR):c.579+34A>G rs148209839 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.648G>T (p.Trp216Cys) rs397508776 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.744-6T>G rs878854022 0.00001
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile) rs377514639 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.869+14A>G rs1554380834 0.00001
NM_000492.4(CFTR):c.869+25A>G rs1554380840 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.8G>T (p.Arg3Met) rs1052894635 0.00001
NM_000492.4(CFTR):c.913T>G (p.Phe305Val) rs201885470 0.00001
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr) rs148013312 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser) rs760319837 0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met) rs776797377 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
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn) rs397508825 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
NM_000492.3(CFTR):c.3376_3381delGAAGGA rs1554392764
NM_000492.4(CFTR):c.*842del rs886061953
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.1016C>G (p.Thr339Ser)
NM_000492.4(CFTR):c.1018A>G (p.Ile340Val)
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn) rs1554381352
NM_000492.4(CFTR):c.1028G>T (p.Cys343Phe)
NM_000492.4(CFTR):c.1039C>A (p.Arg347Ser)
NM_000492.4(CFTR):c.1043T>C (p.Met348Thr)
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
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.1058A>G (p.Gln353Arg)
NM_000492.4(CFTR):c.1060T>C (p.Phe354Leu)
NM_000492.4(CFTR):c.1064C>T (p.Pro355Leu)
NM_000492.4(CFTR):c.1067G>C (p.Trp356Ser) rs573808767
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.1084T>C (p.Tyr362His)
NM_000492.4(CFTR):c.1084T>G (p.Tyr362Asp)
NM_000492.4(CFTR):c.1085A>G (p.Tyr362Cys)
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro) rs76727851
NM_000492.4(CFTR):c.1099G>A (p.Ala367Thr)
NM_000492.4(CFTR):c.109A>C (p.Ile37Leu)
NM_000492.4(CFTR):c.109A>G (p.Ile37Val) rs759721412
NM_000492.4(CFTR):c.110T>C (p.Ile37Thr)
NM_000492.4(CFTR):c.1113A>G (p.Ile371Met)
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg) rs1799033866
NM_000492.4(CFTR):c.1115A>T (p.Gln372Leu)
NM_000492.4(CFTR):c.1116+6G>A
NM_000492.4(CFTR):c.1117-220_1117-4del rs2115881246
NM_000492.4(CFTR):c.1117-4A>G rs1799060630
NM_000492.4(CFTR):c.1117-5A>G rs397508161
NM_000492.4(CFTR):c.1117G>T (p.Asp373Tyr)
NM_000492.4(CFTR):c.1118A>T (p.Asp373Val)
NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys) rs1562892823
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
NM_000492.4(CFTR):c.1135G>A (p.Glu379Lys) rs397508165
NM_000492.4(CFTR):c.1136A>G (p.Glu379Gly)
NM_000492.4(CFTR):c.113A>G (p.Tyr38Cys)
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser) rs397508166
NM_000492.4(CFTR):c.1150G>A (p.Glu384Lys)
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.1161A>C (p.Leu387Phe)
NM_000492.4(CFTR):c.1165A>T (p.Thr389Ser)
NM_000492.4(CFTR):c.1166C>T (p.Thr389Ile)
NM_000492.4(CFTR):c.116A>C (p.Gln39Pro)
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1177G>A (p.Val393Met)
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu) rs1562892874
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.1186A>G (p.Asn396Asp) rs753143757
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr) rs1396443734
NM_000492.4(CFTR):c.1189G>C (p.Val397Leu) rs1225700054
NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys)
NM_000492.4(CFTR):c.1193C>T (p.Thr398Ile)
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.4(CFTR):c.11C>T (p.Ser4Leu)
NM_000492.4(CFTR):c.1201T>C (p.Trp401Arg)
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1209+568A>G
NM_000492.4(CFTR):c.1209+80G>A rs948980243
NM_000492.4(CFTR):c.1210-11_1210-10insGTG
NM_000492.4(CFTR):c.1210-12_1210-11insGTG rs4148705
NM_000492.4(CFTR):c.1210-13_1210-11del rs2115902247
NM_000492.4(CFTR):c.1210-13_1210-8del rs1399483116
NM_000492.4(CFTR):c.1210-5A>G
NM_000492.4(CFTR):c.1210-6T>A rs763339686
NM_000492.4(CFTR):c.1210-6del rs1805177
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.1220A>T (p.Glu407Val) rs397508180
NM_000492.4(CFTR):c.122C>G (p.Pro41Arg)
NM_000492.4(CFTR):c.1234G>T (p.Ala412Ser)
NM_000492.4(CFTR):c.1240C>A (p.Gln414Lys)
NM_000492.4(CFTR):c.1243A>G (p.Asn415Asp)
NM_000492.4(CFTR):c.1245_1247del (p.Asn418del) rs1554382616
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.4(CFTR):c.1255A>G (p.Arg419Gly)
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000492.4(CFTR):c.1269T>A (p.Asn423Lys) rs376039579
NM_000492.4(CFTR):c.1277A>G (p.Asp426Gly)
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) rs2896225
NM_000492.4(CFTR):c.1279A>C (p.Ser427Arg) rs1584793492
NM_000492.4(CFTR):c.1282C>A (p.Leu428Ile)
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.1291A>C (p.Ser431Arg)
NM_000492.4(CFTR):c.1295A>G (p.Asn432Ser)
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.1309G>T (p.Gly437Cys)
NM_000492.4(CFTR):c.1311T>C (p.Gly437=) rs1562895049
NM_000492.4(CFTR):c.1317T>G (p.Pro439=) rs1562895052
NM_000492.4(CFTR):c.1318G>C (p.Val440Leu) rs1799213656
NM_000492.4(CFTR):c.131A>T (p.Asp44Val)
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
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.1348A>G (p.Arg450Gly)
NM_000492.4(CFTR):c.1349G>T (p.Arg450Ile)
NM_000492.4(CFTR):c.1352G>T (p.Gly451Val) rs1554382653
NM_000492.4(CFTR):c.1355A>C (p.Gln452Pro) rs397508193
NM_000492.4(CFTR):c.1360_1381delinsATAGAAA rs1554382656
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.136G>A (p.Ala46Thr) rs1584774381
NM_000492.4(CFTR):c.1370C>T (p.Ala457Val)
NM_000492.4(CFTR):c.1376C>T (p.Ser459Phe)
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr) rs1799216405
NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp) rs1163866901
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
NM_000492.4(CFTR):c.1392+1498G>A
NM_000492.4(CFTR):c.1392G>A (p.Lys464=)
NM_000492.4(CFTR):c.1393-10T>C rs1799416100
NM_000492.4(CFTR):c.1393-2042A>G
NM_000492.4(CFTR):c.1393-3C>A
NM_000492.4(CFTR):c.1394C>T (p.Thr465Ile)
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1405A>T (p.Met469Leu)
NM_000492.4(CFTR):c.1409T>A (p.Val470Glu) rs1261167416
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
NM_000492.4(CFTR):c.1414A>G (p.Met472Val)
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.1433C>T (p.Ser478Leu)
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1439G>T (p.Gly480Val)
NM_000492.4(CFTR):c.1441A>G (p.Lys481Glu)
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val) rs1799418782
NM_000492.4(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.4(CFTR):c.1451A>G (p.His484Arg) rs1427892651
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1480T>G (p.Phe494Val)
NM_000492.4(CFTR):c.1484C>A (p.Ser495Tyr)
NM_000492.4(CFTR):c.1484C>G (p.Ser495Cys)
NM_000492.4(CFTR):c.1484C>T (p.Ser495Phe)
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.4(CFTR):c.1490T>G (p.Ile497Ser) rs1799421098
NM_000492.4(CFTR):c.1492A>G (p.Met498Val) rs1562898400
NM_000492.4(CFTR):c.1493T>C (p.Met498Thr)
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala) rs397508219
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.1501A>G (p.Thr501Ala) rs397508221
NM_000492.4(CFTR):c.1507A>G (p.Lys503Glu)
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1528G>A (p.Val510Ile)
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.1541A>C (p.Glu514Ala)
NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)
NM_000492.4(CFTR):c.1542A>C (p.Glu514Asp)
NM_000492.4(CFTR):c.1543T>G (p.Tyr515Asp)
NM_000492.4(CFTR):c.1547G>T (p.Arg516Ile)
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
NM_000492.4(CFTR):c.1557C>G (p.Ser519Arg)
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.155A>T (p.Lys52Ile)
NM_000492.4(CFTR):c.1561A>C (p.Ile521Leu)
NM_000492.4(CFTR):c.1563C>G (p.Ile521Met)
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.1577T>C (p.Leu526Pro)
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
NM_000492.4(CFTR):c.1584+10206A>G
NM_000492.4(CFTR):c.1584+12309T>C
NM_000492.4(CFTR):c.1584+4A>T rs953352440
NM_000492.4(CFTR):c.1584+5G>C
NM_000492.4(CFTR):c.1584+6457A>C
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp) rs1800095
NM_000492.4(CFTR):c.1585-11006A>G
NM_000492.4(CFTR):c.1585-11869_1585-11865del
NM_000492.4(CFTR):c.1585-2211A>T
NM_000492.4(CFTR):c.161A>C (p.Glu54Ala)
NM_000492.4(CFTR):c.161A>G (p.Glu54Gly)
NM_000492.4(CFTR):c.163A>G (p.Arg55Gly)
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.164+3A>G
NM_000492.4(CFTR):c.164+5G>C rs2116635341
NM_000492.4(CFTR):c.164+6T>C
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.164G>A (p.Arg55Lys)
NM_000492.4(CFTR):c.1680-19A>C
NM_000492.4(CFTR):c.1680-2dup rs1554389008
NM_000492.4(CFTR):c.1680-885T>C rs1281580863
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.1697C>A (p.Ala566Asp) rs1375786834
NM_000492.4(CFTR):c.1699G>A (p.Asp567Asn)
NM_000492.4(CFTR):c.16C>G (p.Leu6Val) rs1554373095
NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala) rs1562907186
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.4(CFTR):c.1709T>C (p.Leu570Ser)
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.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.1735G>A (p.Asp579Asn)
NM_000492.4(CFTR):c.1738G>A (p.Val580Ile) rs2116025764
NM_000492.4(CFTR):c.1743A>T (p.Leu581Phe)
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser) rs397508292
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
NM_000492.4(CFTR):c.1759T>A (p.Phe587Ile)
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly) rs397508297
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg) rs917625450
NM_000492.4(CFTR):c.1766+3A>T rs397508298
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.1783A>G (p.Met595Val) rs750140050
NM_000492.4(CFTR):c.1789A>G (p.Asn597Asp)
NM_000492.4(CFTR):c.1801A>G (p.Ile601Val)
NM_000492.4(CFTR):c.1806G>T (p.Leu602Phe)
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe) rs143036685
NM_000492.4(CFTR):c.1810A>C (p.Thr604Pro) rs1554389267
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1821G>A (p.Met607Ile)
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.1842C>A (p.Asp614Glu)
NM_000492.4(CFTR):c.1844A>G (p.Lys615Arg)
NM_000492.4(CFTR):c.1846A>G (p.Ile616Val)
NM_000492.4(CFTR):c.1848A>G (p.Ile616Met)
NM_000492.4(CFTR):c.1849_1851del (p.Leu617del)
NM_000492.4(CFTR):c.1856T>C (p.Leu619Ser) rs397508313
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1870A>T (p.Ser624Cys)
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.1888T>C (p.Phe630Leu)
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.4(CFTR):c.1902A>C (p.Gln634His)
NM_000492.4(CFTR):c.1905T>A (p.Asn635Lys)
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys) rs397508320
NM_000492.4(CFTR):c.1915G>C (p.Asp639His)
NM_000492.4(CFTR):c.1920T>G (p.Phe640Leu)
NM_000492.4(CFTR):c.1927A>C (p.Lys643Gln)
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr) rs377731410
NM_000492.4(CFTR):c.1935G>A (p.Met645Ile)
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.1955A>C (p.Gln652Pro)
NM_000492.4(CFTR):c.1960A>T (p.Ser654Cys) rs1800099
NM_000492.4(CFTR):c.1962T>G (p.Ser654Arg)
NM_000492.4(CFTR):c.1964C>T (p.Ala655Val)
NM_000492.4(CFTR):c.1966G>C (p.Glu656Gln)
NM_000492.4(CFTR):c.1967A>G (p.Glu656Gly)
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp) rs1060503163
NM_000492.4(CFTR):c.1970G>A (p.Arg657Lys)
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.1999C>T (p.His667Tyr)
NM_000492.4(CFTR):c.2001C>T (p.His667=) rs772786141
NM_000492.4(CFTR):c.2003G>A (p.Arg668His)
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.2020G>T (p.Asp674Tyr)
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala) rs762888022
NM_000492.4(CFTR):c.2026C>T (p.Pro676Ser)
NM_000492.4(CFTR):c.2033C>T (p.Ser678Phe)
NM_000492.4(CFTR):c.2035T>C (p.Trp679Arg)
NM_000492.4(CFTR):c.2045C>A (p.Thr682Lys)
NM_000492.4(CFTR):c.2052A>T (p.Lys684Asn) rs750642366
NM_000492.4(CFTR):c.2054A>C (p.Gln685Pro)
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile) rs372421038
NM_000492.4(CFTR):c.2066A>C (p.Gln689Pro)
NM_000492.4(CFTR):c.2072G>T (p.Gly691Val)
NM_000492.4(CFTR):c.2075A>T (p.Glu692Val)
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.4(CFTR):c.2083G>A (p.Glu695Lys)
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.4(CFTR):c.208A>G (p.Ile70Val)
NM_000492.4(CFTR):c.2096A>T (p.Asn699Ile)
NM_000492.4(CFTR):c.2098T>C (p.Ser700Pro)
NM_000492.4(CFTR):c.2099C>A (p.Ser700Tyr)
NM_000492.4(CFTR):c.2107A>G (p.Asn703Asp)
NM_000492.4(CFTR):c.2108A>C (p.Asn703Thr)
NM_000492.4(CFTR):c.2108A>T (p.Asn703Ile)
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly) rs121908760
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.2137A>G (p.Ile713Val)
NM_000492.4(CFTR):c.2140G>T (p.Val714Leu) rs774199624
NM_000492.4(CFTR):c.2143C>G (p.Gln715Glu)
NM_000492.4(CFTR):c.2145A>G (p.Gln715=)
NM_000492.4(CFTR):c.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln) rs2116032118
NM_000492.4(CFTR):c.2152C>T (p.Pro718Ser)
NM_000492.4(CFTR):c.215C>G (p.Ala72Gly)
NM_000492.4(CFTR):c.2166T>A (p.Asn722Lys)
NM_000492.4(CFTR):c.2170A>C (p.Ile724Leu)
NM_000492.4(CFTR):c.2171T>C (p.Ile724Thr)
NM_000492.4(CFTR):c.2179G>T (p.Asp727Tyr)
NM_000492.4(CFTR):c.2183C>T (p.Ser728Phe) rs1584812535
NM_000492.4(CFTR):c.2185G>C (p.Asp729His)
NM_000492.4(CFTR):c.2186A>C (p.Asp729Ala)
NM_000492.4(CFTR):c.2188G>A (p.Glu730Lys)
NM_000492.4(CFTR):c.2189A>C (p.Glu730Ala)
NM_000492.4(CFTR):c.2192C>G (p.Pro731Arg)
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
NM_000492.4(CFTR):c.2200A>G (p.Arg734Gly)
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.2231A>G (p.Gln744Arg)
NM_000492.4(CFTR):c.2238G>C (p.Glu746Asp)
NM_000492.4(CFTR):c.2240C>A (p.Ala747Glu)
NM_000492.4(CFTR):c.2248C>A (p.Pro750Thr)
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
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.2254A>C (p.Ile752Leu)
NM_000492.4(CFTR):c.2254A>T (p.Ile752Phe)
NM_000492.4(CFTR):c.2267G>T (p.Ser756Ile)
NM_000492.4(CFTR):c.226T>A (p.Cys76Ser) rs757959325
NM_000492.4(CFTR):c.2270C>G (p.Thr757Ser)
NM_000492.4(CFTR):c.2270C>T (p.Thr757Ile)
NM_000492.4(CFTR):c.2275C>A (p.Pro759Thr)
NM_000492.4(CFTR):c.2278A>G (p.Thr760Ala)
NM_000492.4(CFTR):c.227G>T (p.Cys76Phe)
NM_000492.4(CFTR):c.2281C>A (p.Leu761Ile)
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr) rs2116032836
NM_000492.4(CFTR):c.2287G>T (p.Ala763Ser)
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp) rs777536750
NM_000492.4(CFTR):c.2293A>G (p.Arg765Gly)
NM_000492.4(CFTR):c.2294G>A (p.Arg765Lys)
NM_000492.4(CFTR):c.2297G>C (p.Arg766Thr)
NM_000492.4(CFTR):c.2312A>G (p.Asn771Ser)
NM_000492.4(CFTR):c.2321C>G (p.Thr774Arg)
NM_000492.4(CFTR):c.2341C>G (p.Gln781Glu)
NM_000492.4(CFTR):c.2342A>G (p.Gln781Arg)
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
NM_000492.4(CFTR):c.2348T>G (p.Ile783Ser)
NM_000492.4(CFTR):c.2350C>G (p.His784Asp)
NM_000492.4(CFTR):c.2353C>G (p.Arg785Gly)
NM_000492.4(CFTR):c.2354G>C (p.Arg785Pro)
NM_000492.4(CFTR):c.2354G>T (p.Arg785Leu)
NM_000492.4(CFTR):c.2358G>C (p.Lys786Asn)
NM_000492.4(CFTR):c.2360C>A (p.Thr787Lys) rs2116033185
NM_000492.4(CFTR):c.2379A>T (p.Lys793Asn)
NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)
NM_000492.4(CFTR):c.2381T>A (p.Val794Glu)
NM_000492.4(CFTR):c.2387T>A (p.Leu796Gln)
NM_000492.4(CFTR):c.2389G>T (p.Ala797Ser)
NM_000492.4(CFTR):c.2393C>G (p.Pro798Arg)
NM_000492.4(CFTR):c.2395C>A (p.Gln799Lys)
NM_000492.4(CFTR):c.2399C>A (p.Ala800Glu)
NM_000492.4(CFTR):c.2399C>T (p.Ala800Val)
NM_000492.4(CFTR):c.239G>C (p.Arg80Thr)
NM_000492.4(CFTR):c.2402A>T (p.Asn801Ile)
NM_000492.4(CFTR):c.2403C>G (p.Asn801Lys)
NM_000492.4(CFTR):c.2404T>G (p.Leu802Val)
NM_000492.4(CFTR):c.2418T>A (p.Asp806Glu)
NM_000492.4(CFTR):c.241T>C (p.Phe81Leu)
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr) rs1554389471
NM_000492.4(CFTR):c.2426C>T (p.Ser809Leu)
NM_000492.4(CFTR):c.2427AAG[1] (p.Arg811del) rs1554389478
NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr) rs1798471062
NM_000492.4(CFTR):c.2430A>T (p.Arg810Ser)
NM_000492.4(CFTR):c.2434T>A (p.Leu812Ile)
NM_000492.4(CFTR):c.243T>G (p.Phe81Leu)
NM_000492.4(CFTR):c.2446A>C (p.Thr816Pro)
NM_000492.4(CFTR):c.244A>G (p.Met82Val) rs1554376431
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
NM_000492.4(CFTR):c.2458A>C (p.Ile820Leu)
NM_000492.4(CFTR):c.2458A>G (p.Ile820Val)
NM_000492.4(CFTR):c.2462G>A (p.Ser821Asn)
NM_000492.4(CFTR):c.2470A>G (p.Ile824Val)
NM_000492.4(CFTR):c.2472T>G (p.Ile824Met)
NM_000492.4(CFTR):c.2474A>G (p.Asn825Ser) rs1398481391
NM_000492.4(CFTR):c.2478AGA[1] (p.Glu827del) rs2116034014
NM_000492.4(CFTR):c.2483A>G (p.Asp828Gly)
NM_000492.4(CFTR):c.2490+1083C>T
NM_000492.4(CFTR):c.2490+4_2490+6dup rs1554389497
NM_000492.4(CFTR):c.2490+4_2490+7del
NM_000492.4(CFTR):c.2490+7A>G rs751864459
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.2503G>T (p.Asp835Tyr)
NM_000492.4(CFTR):c.2515A>C (p.Ser839Arg) rs2116039371
NM_000492.4(CFTR):c.2515A>G (p.Ser839Gly)
NM_000492.4(CFTR):c.251A>G (p.Tyr84Cys)
NM_000492.4(CFTR):c.2528T>A (p.Val843Glu)
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile) rs1792097477
NM_000492.4(CFTR):c.2533A>C (p.Thr845Pro)
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
NM_000492.4(CFTR):c.253_255del (p.Gly85del)
NM_000492.4(CFTR):c.2543C>G (p.Thr848Arg)
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.2549T>G (p.Leu850Arg)
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.4(CFTR):c.2561C>T (p.Thr854Ile)
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.2566_2567insTAC (p.Val855_His856insLeu) rs774507425
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.2578A>G (p.Ile860Val)
NM_000492.4(CFTR):c.2579T>C (p.Ile860Thr)
NM_000492.4(CFTR):c.257T>A (p.Ile86Asn) rs1798471787
NM_000492.4(CFTR):c.2584G>A (p.Val862Met)
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
NM_000492.4(CFTR):c.2598C>G (p.Cys866Trp)
NM_000492.4(CFTR):c.2606T>G (p.Ile869Ser)
NM_000492.4(CFTR):c.2614G>A (p.Ala872Thr) rs2116039854
NM_000492.4(CFTR):c.2617G>A (p.Glu873Lys)
NM_000492.4(CFTR):c.2619+3A>G rs397508408
NM_000492.4(CFTR):c.2619G>A (p.Glu873=) rs397508409
NM_000492.4(CFTR):c.2620-12G>T
NM_000492.4(CFTR):c.2620G>A (p.Val874Met)
NM_000492.4(CFTR):c.2624C>T (p.Ala875Val)
NM_000492.4(CFTR):c.2626G>A (p.Ala876Thr) rs1328356747
NM_000492.4(CFTR):c.2626G>T (p.Ala876Ser)
NM_000492.4(CFTR):c.2634G>C (p.Leu878Phe)
NM_000492.4(CFTR):c.2636T>A (p.Val879Asp)
NM_000492.4(CFTR):c.2636T>C (p.Val879Ala)
NM_000492.4(CFTR):c.2642T>C (p.Leu881Pro)
NM_000492.4(CFTR):c.2657+17C>T rs368543375
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.2663C>A (p.Pro888His)
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.4(CFTR):c.2677G>A (p.Gly893Arg)
NM_000492.4(CFTR):c.2681A>C (p.Asn894Thr)
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>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr) rs201864483
NM_000492.4(CFTR):c.2687_2690delinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer) rs397508420
NM_000492.4(CFTR):c.2692A>G (p.Ser898Gly)
NM_000492.4(CFTR):c.2695A>G (p.Arg899Gly)
NM_000492.4(CFTR):c.2702A>T (p.Asn901Ile)
NM_000492.4(CFTR):c.2705G>C (p.Ser902Thr) rs2116061306
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.2717T>A (p.Ile906Asn)
NM_000492.4(CFTR):c.2719A>G (p.Ile907Val) rs397508423
NM_000492.4(CFTR):c.2720T>A (p.Ile907Asn)
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
NM_000492.4(CFTR):c.2729C>G (p.Thr910Ser)
NM_000492.4(CFTR):c.273+7334T>C
NM_000492.4(CFTR):c.273+8304C>T
NM_000492.4(CFTR):c.273+8T>A rs1189108407
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr) rs1554390984
NM_000492.4(CFTR):c.274-1407T>G
NM_000492.4(CFTR):c.274-3T>C rs1554379763
NM_000492.4(CFTR):c.274-5T>A rs1454461758
NM_000492.4(CFTR):c.274-8043A>G
NM_000492.4(CFTR):c.2750A>G (p.Tyr917Cys) rs397508428
NM_000492.4(CFTR):c.2752A>C (p.Ile918Leu)
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>C (p.Val920Leu)
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu) rs193922508
NM_000492.4(CFTR):c.2762G>T (p.Gly921Val) rs193922508
NM_000492.4(CFTR):c.2764G>A (p.Val922Ile) rs1792259336
NM_000492.4(CFTR):c.2764G>C (p.Val922Leu)
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
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.2774C>A (p.Thr925Asn)
NM_000492.4(CFTR):c.2774C>G (p.Thr925Ser)
NM_000492.4(CFTR):c.2774C>T (p.Thr925Ile)
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser) rs757410423
NM_000492.4(CFTR):c.2787G>A (p.Met929Ile)
NM_000492.4(CFTR):c.278T>A (p.Val93Asp)
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser) rs397508437
NM_000492.4(CFTR):c.2806C>T (p.Pro936Ser)
NM_000492.4(CFTR):c.2807C>T (p.Pro936Leu)
NM_000492.4(CFTR):c.2809C>G (p.Leu937Val)
NM_000492.4(CFTR):c.280A>C (p.Thr94Pro) rs1434378124
NM_000492.4(CFTR):c.2810T>C (p.Leu937Pro)
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.2819C>T (p.Thr940Ile)
NM_000492.4(CFTR):c.2830G>C (p.Val944Leu)
NM_000492.4(CFTR):c.2836A>C (p.Lys946Gln)
NM_000492.4(CFTR):c.2840T>C (p.Ile947Thr)
NM_000492.4(CFTR):c.2844A>C (p.Leu948Phe)
NM_000492.4(CFTR):c.2848C>T (p.His950Tyr)
NM_000492.4(CFTR):c.284A>G (p.Lys95Arg)
NM_000492.4(CFTR):c.2851A>G (p.Lys951Glu)
NM_000492.4(CFTR):c.2854A>G (p.Met952Val)
NM_000492.4(CFTR):c.2855T>G (p.Met952Arg)
NM_000492.4(CFTR):c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp)
NM_000492.4(CFTR):c.2861A>G (p.His954Arg)
NM_000492.4(CFTR):c.2863T>G (p.Ser955Ala) rs1584817978
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
NM_000492.4(CFTR):c.288_296del (p.Val97_Pro99del)
NM_000492.4(CFTR):c.2890C>T (p.Leu964Phe)
NM_000492.4(CFTR):c.2894A>G (p.Asn965Ser)
NM_000492.4(CFTR):c.2906C>G (p.Ala969Gly)
NM_000492.4(CFTR):c.2906C>T (p.Ala969Val) rs936934088
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+3A>C rs1554391091
NM_000492.4(CFTR):c.2908+3_2908+14del
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2909-4A>G rs397508457
NM_000492.4(CFTR):c.2909-8_2909-7insTAAT rs1554391448
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.2928C>A (p.Phe976Leu)
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.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2942C>A (p.Ala981Glu)
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn) rs764644021
NM_000492.4(CFTR):c.2951A>T (p.Asp984Val)
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.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
NM_000492.4(CFTR):c.2988+33G>T
NM_000492.4(CFTR):c.298C>T (p.Leu100Phe)
NM_000492.4(CFTR):c.299T>A (p.Leu100His)
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.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.307G>A (p.Gly103Arg) rs1584784895
NM_000492.4(CFTR):c.310A>G (p.Arg104Gly)
NM_000492.4(CFTR):c.311G>C (p.Arg104Thr)
NM_000492.4(CFTR):c.313A>C (p.Ile105Leu) rs758675549
NM_000492.4(CFTR):c.316A>G (p.Ile106Val) rs1024092547
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
NM_000492.4(CFTR):c.319G>C (p.Ala107Pro) rs1562889219
NM_000492.4(CFTR):c.322T>C (p.Ser108Pro)
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn) rs113993958
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.3368-19G>C
NM_000492.4(CFTR):c.3368-3T>C rs2116096154
NM_000492.4(CFTR):c.3368-4A>G rs748811222
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.4(CFTR):c.3374G>A (p.Gly1125Glu)
NM_000492.4(CFTR):c.3385G>A (p.Val1129Ile)
NM_000492.4(CFTR):c.3385G>C (p.Val1129Leu) rs2116096247
NM_000492.4(CFTR):c.3388G>A (p.Gly1130Ser)
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.4(CFTR):c.3392T>C (p.Ile1131Thr)
NM_000492.4(CFTR):c.3401C>A (p.Thr1134Asn)
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
NM_000492.4(CFTR):c.3413A>G (p.Asn1138Ser)
NM_000492.4(CFTR):c.3418A>T (p.Met1140Leu)
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile) rs1554392775
NM_000492.4(CFTR):c.3428T>C (p.Leu1143Ser)
NM_000492.4(CFTR):c.342G>C (p.Lys114Asn)
NM_000492.4(CFTR):c.3437C>T (p.Ala1146Val)
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.3460G>A (p.Asp1154Asn) rs397508568
NM_000492.4(CFTR):c.3460G>T (p.Asp1154Tyr) rs397508568
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
NM_000492.4(CFTR):c.3468+3566G>A
NM_000492.4(CFTR):c.3469-1G>T
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.3481A>G (p.Ser1161Gly)
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3487G>A (p.Val1163Ile)
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.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn) rs2116129005
NM_000492.4(CFTR):c.3505A>G (p.Met1169Val)
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.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3514G>C (p.Glu1172Gln)
NM_000492.4(CFTR):c.3518G>A (p.Gly1173Asp)
NM_000492.4(CFTR):c.3523C>T (p.Pro1175Ser)
NM_000492.4(CFTR):c.3524C>T (p.Pro1175Leu)
NM_000492.4(CFTR):c.3527C>G (p.Thr1176Ser)
NM_000492.4(CFTR):c.3529A>G (p.Lys1177Glu) rs397508578
NM_000492.4(CFTR):c.3532T>A (p.Ser1178Thr)
NM_000492.4(CFTR):c.3544T>C (p.Tyr1182His) rs770167300
NM_000492.4(CFTR):c.3559C>A (p.Leu1187Ile)
NM_000492.4(CFTR):c.3559C>G (p.Leu1187Val)
NM_000492.4(CFTR):c.3559C>T (p.Leu1187Phe)
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu) rs1036123285
NM_000492.4(CFTR):c.3568G>A (p.Val1190Ile)
NM_000492.4(CFTR):c.356T>A (p.Ile119Asn)
NM_000492.4(CFTR):c.356T>G (p.Ile119Ser)
NM_000492.4(CFTR):c.3573G>A (p.Met1191Ile) rs1359962349
NM_000492.4(CFTR):c.3574A>T (p.Ile1192Phe) rs1792672546
NM_000492.4(CFTR):c.3578T>C (p.Ile1193Thr)
NM_000492.4(CFTR):c.3585T>A (p.Asn1195Lys)
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.3595A>C (p.Lys1199Gln)
NM_000492.4(CFTR):c.359C>T (p.Ala120Val) rs1265244783
NM_000492.4(CFTR):c.3600A>T (p.Lys1200Asn)
NM_000492.4(CFTR):c.3605A>G (p.Asp1202Gly)
NM_000492.4(CFTR):c.3611G>T (p.Trp1204Leu)
NM_000492.4(CFTR):c.3614C>A (p.Pro1205His)
NM_000492.4(CFTR):c.3614C>G (p.Pro1205Arg)
NM_000492.4(CFTR):c.361A>G (p.Ile121Val) rs574654063
NM_000492.4(CFTR):c.3623G>C (p.Gly1208Ala)
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu) rs151264397
NM_000492.4(CFTR):c.3628A>T (p.Met1210Leu)
NM_000492.4(CFTR):c.3637A>C (p.Lys1213Gln)
NM_000492.4(CFTR):c.3637A>G (p.Lys1213Glu)
NM_000492.4(CFTR):c.3641A>G (p.Asp1214Gly)
NM_000492.4(CFTR):c.3641A>T (p.Asp1214Val) rs1792675407
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.3688A>G (p.Ile1230Val)
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro) rs1792676456
NM_000492.4(CFTR):c.3697T>C (p.Ser1233Pro)
NM_000492.4(CFTR):c.3706C>G (p.Pro1236Ala)
NM_000492.4(CFTR):c.3711C>A (p.Gly1237=) rs1316425599
NM_000492.4(CFTR):c.3717+14A>G
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3717+6029A>G
NM_000492.4(CFTR):c.3718-3598C>T rs2116156664
NM_000492.4(CFTR):c.3718-3T>C
NM_000492.4(CFTR):c.3718G>T (p.Val1240Leu)
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.371G>A (p.Gly124Asp)
NM_000492.4(CFTR):c.3721G>A (p.Gly1241Ser)
NM_000492.4(CFTR):c.3722G>A (p.Gly1241Asp)
NM_000492.4(CFTR):c.3724C>T (p.Leu1242Phe)
NM_000492.4(CFTR):c.3725T>A (p.Leu1242His)
NM_000492.4(CFTR):c.3728T>G (p.Leu1243Trp)
NM_000492.4(CFTR):c.372C>T (p.Gly124=) rs1060503162
NM_000492.4(CFTR):c.3740G>A (p.Gly1247Glu)
NM_000492.4(CFTR):c.3740G>T (p.Gly1247Val)
NM_000492.4(CFTR):c.3749_3751dup (p.Lys1250dup) rs1584836961
NM_000492.4(CFTR):c.3752G>C (p.Ser1251Thr)
NM_000492.4(CFTR):c.3759G>T (p.Leu1253Phe)
NM_000492.4(CFTR):c.375A>G (p.Ile125Met)
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
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.3779T>C (p.Leu1260Pro)
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala) rs397508609
NM_000492.4(CFTR):c.3782T>G (p.Leu1261Arg)
NM_000492.4(CFTR):c.3787A>G (p.Thr1263Ala) rs1554395363
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.3797A>G (p.Glu1266Gly)
NM_000492.4(CFTR):c.379T>C (p.Leu127=) rs2116670348
NM_000492.4(CFTR):c.3800T>A (p.Ile1267Asn)
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met) rs1800129
NM_000492.4(CFTR):c.3811G>A (p.Gly1271Ser)
NM_000492.4(CFTR):c.3815T>G (p.Val1272Gly)
NM_000492.4(CFTR):c.3824A>G (p.Asp1275Gly)
NM_000492.4(CFTR):c.3829A>G (p.Ile1277Val)
NM_000492.4(CFTR):c.3836T>C (p.Leu1279Ser) rs1286786026
NM_000492.4(CFTR):c.3837G>T (p.Leu1279Phe)
NM_000492.4(CFTR):c.3842A>C (p.Gln1281Pro)
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.3848G>A (p.Arg1283Lys) rs77902683
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.3854C>G (p.Ala1285Gly)
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys) rs121909028
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg) rs1792936385
NM_000492.4(CFTR):c.3862G>A (p.Val1288Met)
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser) rs397508619
NM_000492.4(CFTR):c.3869C>T (p.Pro1290Leu)
NM_000492.4(CFTR):c.386T>C (p.Leu129Pro)
NM_000492.4(CFTR):c.386T>G (p.Leu129Arg)
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.4(CFTR):c.3873+5G>A
NM_000492.4(CFTR):c.3874-27TTC[2] rs397508623
NM_000492.4(CFTR):c.3874-3828G>T
NM_000492.4(CFTR):c.3874-3854C>G
NM_000492.4(CFTR):c.3874-8T>A rs397508625
NM_000492.4(CFTR):c.3887T>C (p.Phe1296Ser)
NM_000492.4(CFTR):c.388C>G (p.Leu130Val) rs397508632
NM_000492.4(CFTR):c.3893G>C (p.Gly1298Ala) rs193922522
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.389T>C (p.Leu130Pro) rs1798853976
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3904A>G (p.Lys1302Glu)
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr) rs397508636
NM_000492.4(CFTR):c.3910T>G (p.Leu1304Val)
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu) rs397508640
NM_000492.4(CFTR):c.3917C>A (p.Pro1306His)
NM_000492.4(CFTR):c.391T>C (p.Phe131Leu)
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr) rs1793109904
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys) rs121909026
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.4(CFTR):c.3953T>G (p.Val1318Gly)
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu) rs397508649
NM_000492.4(CFTR):c.3958G>A (p.Asp1320Asn)
NM_000492.4(CFTR):c.3958G>C (p.Asp1320His)
NM_000492.4(CFTR):c.3963+5G>C
NM_000492.4(CFTR):c.3963G>A (p.Glu1321=)
NM_000492.4(CFTR):c.3964-10C>T
NM_000492.4(CFTR):c.3964-16T>G
NM_000492.4(CFTR):c.3964-18del
NM_000492.4(CFTR):c.3964-7A>G
NM_000492.4(CFTR):c.3964G>A (p.Val1322Ile)
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.3984A>G (p.Ile1328Met)
NM_000492.4(CFTR):c.3989A>G (p.Gln1330Arg)
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile) rs1369611499
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4007A>C (p.Asp1336Ala)
NM_000492.4(CFTR):c.4009T>A (p.Phe1337Ile)
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.4019T>A (p.Val1340Glu)
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys) rs1584785049
NM_000492.4(CFTR):c.4024G>A (p.Gly1342Arg)
NM_000492.4(CFTR):c.4025G>T (p.Gly1342Val)
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp) rs773458471
NM_000492.4(CFTR):c.4028G>C (p.Gly1343Ala)
NM_000492.4(CFTR):c.4030T>G (p.Cys1344Gly) rs1793341222
NM_000492.4(CFTR):c.4034T>C (p.Val1345Ala)
NM_000492.4(CFTR):c.4037T>C (p.Leu1346Pro)
NM_000492.4(CFTR):c.4040G>A (p.Ser1347Asn)
NM_000492.4(CFTR):c.4042C>A (p.His1348Asn)
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
NM_000492.4(CFTR):c.4053_4054delinsAG (p.Gln1352Glu) rs2116221100
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
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.4063T>G (p.Cys1355Gly)
NM_000492.4(CFTR):c.4067T>C (p.Leu1356Ser)
NM_000492.4(CFTR):c.4076C>A (p.Ser1359Tyr)
NM_000492.4(CFTR):c.4076C>G (p.Ser1359Cys)
NM_000492.4(CFTR):c.4078G>A (p.Val1360Ile)
NM_000492.4(CFTR):c.407T>C (p.Leu136Pro) rs1798854681
NM_000492.4(CFTR):c.407T>G (p.Leu136Arg) rs1798854681
NM_000492.4(CFTR):c.4081C>G (p.Leu1361Val) rs772157232
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn) rs777892053
NM_000492.4(CFTR):c.4088A>G (p.Lys1363Arg)
NM_000492.4(CFTR):c.4093A>G (p.Lys1365Glu)
NM_000492.4(CFTR):c.4096A>G (p.Ile1366Val)
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.40A>C (p.Lys14Gln)
NM_000492.4(CFTR):c.4103T>C (p.Leu1368Pro)
NM_000492.4(CFTR):c.4108G>C (p.Asp1370His)
NM_000492.4(CFTR):c.4110T>A (p.Asp1370Glu)
NM_000492.4(CFTR):c.4111_4113dup (p.Glu1371_Pro1372insGlu)
NM_000492.4(CFTR):c.4114C>A (p.Pro1372Thr) rs397508676
NM_000492.4(CFTR):c.4114C>T (p.Pro1372Ser)
NM_000492.4(CFTR):c.4118G>T (p.Ser1373Ile) rs587780313
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.4(CFTR):c.412_413insACT (p.Leu137_Leu138insHis) rs397508679
NM_000492.4(CFTR):c.4135G>C (p.Val1379Leu)
NM_000492.4(CFTR):c.4136+3G>A rs1584849002
NM_000492.4(CFTR):c.4136+5G>A rs1584849005
NM_000492.4(CFTR):c.4136+6T>A rs969884170
NM_000492.4(CFTR):c.4137-23G>A
NM_000492.4(CFTR):c.4139C>T (p.Thr1380Ile)
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.4(CFTR):c.4142A>C (p.Tyr1381Ser)
NM_000492.4(CFTR):c.4142A>T (p.Tyr1381Phe)
NM_000492.4(CFTR):c.4144C>A (p.Gln1382Lys)
NM_000492.4(CFTR):c.4147A>G (p.Ile1383Val)
NM_000492.4(CFTR):c.4147A>T (p.Ile1383Leu)
NM_000492.4(CFTR):c.4151T>C (p.Ile1384Thr) rs1584849296
NM_000492.4(CFTR):c.415C>T (p.His139Tyr)
NM_000492.4(CFTR):c.4162C>G (p.Leu1388Val) rs1554397584
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.4183T>C (p.Cys1395Arg)
NM_000492.4(CFTR):c.4187C>T (p.Thr1396Ile)
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu) rs397508691
NM_000492.4(CFTR):c.4195C>A (p.Leu1399Ile)
NM_000492.4(CFTR):c.4195C>G (p.Leu1399Val) rs1562929162
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.4205A>G (p.His1402Arg)
NM_000492.4(CFTR):c.4208G>A (p.Arg1403Lys)
NM_000492.4(CFTR):c.4209G>T (p.Arg1403Ser)
NM_000492.4(CFTR):c.4219A>G (p.Met1407Val)
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
NM_000492.4(CFTR):c.4223T>C (p.Leu1408Pro)
NM_000492.4(CFTR):c.4238T>G (p.Phe1413Cys)
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser) rs397508703
NM_000492.4(CFTR):c.4242+6T>C rs1562929200
NM_000492.4(CFTR):c.424A>G (p.Ile142Val) rs1562889369
NM_000492.4(CFTR):c.425T>G (p.Ile142Ser)
NM_000492.4(CFTR):c.427T>G (p.Phe143Val)
NM_000492.4(CFTR):c.435TCA[1] (p.His147del)
NM_000492.4(CFTR):c.440A>C (p.His147Pro)
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.443T>G (p.Ile148Ser)
NM_000492.4(CFTR):c.449T>A (p.Met150Lys) rs1562889397
NM_000492.4(CFTR):c.449T>G (p.Met150Arg) rs1562889397
NM_000492.4(CFTR):c.44T>A (p.Leu15His)
NM_000492.4(CFTR):c.450G>A (p.Met150Ile)
NM_000492.4(CFTR):c.456G>A (p.Met152Ile) rs1403470018
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.4(CFTR):c.466A>G (p.Met156Val)
NM_000492.4(CFTR):c.472A>G (p.Ser158Gly)
NM_000492.4(CFTR):c.472A>T (p.Ser158Cys)
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.478A>G (p.Ile160Val)
NM_000492.4(CFTR):c.479T>C (p.Ile160Thr)
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.488A>C (p.Lys163Thr) rs1562889435
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.489G>A (p.Lys163=) rs397508733
NM_000492.4(CFTR):c.491C>T (p.Thr164Ile)
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn) rs2116674891
NM_000492.4(CFTR):c.503C>T (p.Ser168Leu) rs869249241
NM_000492.4(CFTR):c.505A>G (p.Ser169Gly) rs1554380309
NM_000492.4(CFTR):c.506G>A (p.Ser169Asn)
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.521A>G (p.Lys174Arg)
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
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.53+9G>T rs745414764
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.539T>C (p.Leu180Pro)
NM_000492.4(CFTR):c.53G>T (p.Ser18Ile)
NM_000492.4(CFTR):c.54-13C>G rs397508749
NM_000492.4(CFTR):c.54-9347T>A
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.4(CFTR):c.548T>A (p.Leu183His)
NM_000492.4(CFTR):c.551T>G (p.Leu184Arg) rs1798913255
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr) rs1798913314
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.560A>G (p.Asn187Ser)
NM_000492.4(CFTR):c.562C>A (p.Leu188Met)
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro) rs766640075
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.574G>C (p.Asp192His)
NM_000492.4(CFTR):c.575A>T (p.Asp192Val) rs397508758
NM_000492.4(CFTR):c.579+4T>C
NM_000492.4(CFTR):c.579+8C>A
NM_000492.4(CFTR):c.580-3C>T rs2116676312
NM_000492.4(CFTR):c.580G>C (p.Gly194Arg)
NM_000492.4(CFTR):c.586G>A (p.Ala196Thr)
NM_000492.4(CFTR):c.586G>C (p.Ala196Pro)
NM_000492.4(CFTR):c.587C>G (p.Ala196Gly)
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.592G>T (p.Ala198Ser)
NM_000492.4(CFTR):c.593C>T (p.Ala198Val) rs73215910
NM_000492.4(CFTR):c.598T>G (p.Phe200Val) rs397508766
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro) rs1797976959
NM_000492.4(CFTR):c.600C>A (p.Phe200Leu)
NM_000492.4(CFTR):c.609C>G (p.Ile203Met) rs1800081
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser) rs748026786
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.619C>A (p.Gln207Lys)
NM_000492.4(CFTR):c.622G>A (p.Val208Met)
NM_000492.4(CFTR):c.626C>T (p.Ala209Val)
NM_000492.4(CFTR):c.628C>A (p.Leu210Ile)
NM_000492.4(CFTR):c.635T>C (p.Met212Thr)
NM_000492.4(CFTR):c.640C>G (p.Leu214Val) rs188457893
NM_000492.4(CFTR):c.646T>C (p.Trp216Arg) rs1562890551
NM_000492.4(CFTR):c.647G>C (p.Trp216Ser)
NM_000492.4(CFTR):c.661G>C (p.Ala221Pro)
NM_000492.4(CFTR):c.662C>A (p.Ala221Glu)
NM_000492.4(CFTR):c.662C>G (p.Ala221Gly)
NM_000492.4(CFTR):c.667G>T (p.Ala223Ser)
NM_000492.4(CFTR):c.670T>C (p.Phe224Leu)
NM_000492.4(CFTR):c.670T>G (p.Phe224Val)
NM_000492.4(CFTR):c.671T>C (p.Phe224Ser)
NM_000492.4(CFTR):c.676G>A (p.Gly226Arg)
NM_000492.4(CFTR):c.676G>C (p.Gly226Arg) rs1562890588
NM_000492.4(CFTR):c.67A>G (p.Ile23Val) rs1798377413
NM_000492.4(CFTR):c.682G>A (p.Gly228Ser)
NM_000492.4(CFTR):c.682G>T (p.Gly228Cys) rs1435574279
NM_000492.4(CFTR):c.683G>A (p.Gly228Asp)
NM_000492.4(CFTR):c.68T>C (p.Ile23Thr)
NM_000492.4(CFTR):c.692T>G (p.Ile231Arg)
NM_000492.4(CFTR):c.697C>T (p.Leu233Phe) rs775713428
NM_000492.4(CFTR):c.700G>T (p.Ala234Ser)
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp) rs769016520
NM_000492.4(CFTR):c.703C>G (p.Leu235Val)
NM_000492.4(CFTR):c.704T>A (p.Leu235His)
NM_000492.4(CFTR):c.707T>A (p.Phe236Tyr)
NM_000492.4(CFTR):c.710A>C (p.Gln237Pro)
NM_000492.4(CFTR):c.711G>C (p.Gln237His) rs397508785
NM_000492.4(CFTR):c.712G>T (p.Ala238Ser)
NM_000492.4(CFTR):c.716G>A (p.Gly239Glu)
NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
NM_000492.4(CFTR):c.721G>T (p.Gly241Trp)
NM_000492.4(CFTR):c.722G>A (p.Gly241Glu)
NM_000492.4(CFTR):c.727A>G (p.Met243Val)
NM_000492.4(CFTR):c.728T>C (p.Met243Thr)
NM_000492.4(CFTR):c.729G>A (p.Met243Ile)
NM_000492.4(CFTR):c.731T>C (p.Met244Thr)
NM_000492.4(CFTR):c.736A>C (p.Lys246Gln)
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.743+4G>T rs193922530
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.744-33GATT[5] rs1805171
NM_000492.4(CFTR):c.745G>T (p.Asp249Tyr)
NM_000492.4(CFTR):c.754G>A (p.Ala252Thr) rs748582435
NM_000492.4(CFTR):c.754G>C (p.Ala252Pro)
NM_000492.4(CFTR):c.754G>T (p.Ala252Ser)
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg) rs1343896905
NM_000492.4(CFTR):c.765C>G (p.Ile255Met)
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.778G>A (p.Val260Met) rs1390016549
NM_000492.4(CFTR):c.782T>C (p.Ile261Thr)
NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.4(CFTR):c.818A>C (p.Lys273Thr)
NM_000492.4(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn) rs1554380796
NM_000492.4(CFTR):c.830G>C (p.Trp277Ser)
NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)
NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)
NM_000492.4(CFTR):c.851T>C (p.Met284Thr) rs2116678778
NM_000492.4(CFTR):c.854T>C (p.Ile285Thr)
NM_000492.4(CFTR):c.85A>G (p.Arg29Gly)
NM_000492.4(CFTR):c.860A>G (p.Asn287Ser)
NM_000492.4(CFTR):c.865A>G (p.Arg289Gly)
NM_000492.4(CFTR):c.868C>G (p.Gln290Glu)
NM_000492.4(CFTR):c.869+5G>C
NM_000492.4(CFTR):c.869A>T (p.Gln290Leu)
NM_000492.4(CFTR):c.870-1110T>C
NM_000492.4(CFTR):c.870-5dup rs759762840
NM_000492.4(CFTR):c.870-682_870-350del
NM_000492.4(CFTR):c.875A>G (p.Glu292Gly) rs1799023050
NM_000492.4(CFTR):c.878T>G (p.Leu293Arg)
NM_000492.4(CFTR):c.895G>A (p.Ala299Thr) rs1180803268
NM_000492.4(CFTR):c.896C>T (p.Ala299Val)
NM_000492.4(CFTR):c.899C>G (p.Ala300Gly)
NM_000492.4(CFTR):c.89A>C (p.Gln30Pro)
NM_000492.4(CFTR):c.901T>C (p.Tyr301His)
NM_000492.4(CFTR):c.905T>A (p.Val302Glu)
NM_000492.4(CFTR):c.905T>C (p.Val302Ala)
NM_000492.4(CFTR):c.911A>C (p.Tyr304Ser)
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys) rs1562892143
NM_000492.4(CFTR):c.915C>G (p.Phe305Leu)
NM_000492.4(CFTR):c.920G>T (p.Ser307Ile)
NM_000492.4(CFTR):c.926C>A (p.Ala309Asp) rs397508818
NM_000492.4(CFTR):c.926C>T (p.Ala309Val) rs397508818
NM_000492.4(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.4(CFTR):c.932T>C (p.Phe311Ser)
NM_000492.4(CFTR):c.932T>G (p.Phe311Cys) rs1584789230
NM_000492.4(CFTR):c.940G>C (p.Gly314Arg) rs397508819
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.947T>C (p.Phe316Ser)
NM_000492.4(CFTR):c.949G>A (p.Val317Met)
NM_000492.4(CFTR):c.950T>G (p.Val317Gly)
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe) rs56093012
NM_000492.4(CFTR):c.962C>G (p.Ser321Cys)
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu) rs397508822
NM_000492.4(CFTR):c.976G>T (p.Ala326Ser)
NM_000492.4(CFTR):c.977C>G (p.Ala326Gly)
NM_000492.4(CFTR):c.977C>T (p.Ala326Val) rs1584789296
NM_000492.4(CFTR):c.979C>G (p.Leu327Val)
NM_000492.4(CFTR):c.991A>T (p.Ile331Phe)
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)dup
NM_000492.4:c.(273+1_274-1)_(1392+1_1393-1)dup
NM_000492.4:c.(2908+1_2909-1)_(3139+1_3140-1)dup

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