ClinVar Miner

List of variants studied for cystic fibrosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4429
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.3(CFTR):c.-102A= rs1797973431 0.99999
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_000492.4(CFTR):c.1680-870T>A rs213965 0.55332
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) rs1801274 0.50935
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_000492.4(CFTR):c.1766+152T>A rs4148711 0.43526
NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His) rs1051740 0.27126
NM_000492.4(CFTR):c.4137-139G>A rs4727855 0.25573
NM_000492.4(CFTR):c.1393-61A>G rs34855237 0.25355
NM_000492.4(CFTR):c.274-179G>A rs1429566 0.24654
NM_000492.4(CFTR):c.3964-283T>C rs10266116 0.23537
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000492.4(CFTR):c.1767-136T>C rs11978434 0.20764
NM_000492.4(CFTR):c.3368-140A>C rs213981 0.19089
NM_000492.4(CFTR):c.3874-200G>A rs214164 0.18968
NM_000492.4(CFTR):c.3469-65C>A rs213989 0.18576
NM_000660.7(TGFB1):c.861-20C>T rs8179181 0.17369
NM_000492.4(CFTR):c.2909-92G>A rs35050470 0.16197
NM_000492.4(CFTR):c.3140-92T>C rs4148717 0.12640
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NG_016465.4:g.18346T>G rs4148682 0.10044
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_000492.4(CFTR):c.869+11C>T rs1800503 0.07590
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000492.4(CFTR):c.2909-71G>C rs34830471 0.03795
NM_000492.4(CFTR):c.743+40A>G rs1800502 0.03675
NM_000492.4(CFTR):c.3139+42A>T rs28517401 0.03591
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000492.4(CFTR):c.3468+2109T>C rs213982 0.02368
NM_000492.4(CFTR):c.489+91A>G rs56094102 0.02063
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000660.7(TGFB1):c.355+5G>A rs11466318 0.00894
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
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.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000492.4(CFTR):c.1584+1179A>G rs191397416 0.00558
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_000492.4(CFTR):c.3718-2530A>G rs213990 0.00445
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
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.4242+13A>G rs76179227 0.00295
NM_000492.4(CFTR):c.3367+37G>A rs137854873 0.00226
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_000492.4(CFTR):c.1210-15del rs371831442 0.00192
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000492.4(CFTR):c.*482C>T rs147862180 0.00163
NM_000492.4(CFTR):c.*684A>G rs146818281 0.00153
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000492.4(CFTR):c.580-92T>A rs117548166 0.00133
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000492.4(CFTR):c.3139+18C>T rs147945812 0.00126
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000492.4(CFTR):c.3718-3630G>T rs142677818 0.00117
NM_000492.3(CFTR):c.-1043dup rs574740041 0.00109
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.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.3718-79T>C rs397508597 0.00096
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.3139+101C>G rs397508502 0.00077
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
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_001282426.2(PIK3CG):c.1076G>A (p.Arg359His) rs144565710 0.00059
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000492.4(CFTR):c.274-6586A>G rs555473089 0.00052
NM_000492.4(CFTR):c.*94C>T rs144214399 0.00051
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
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_000492.3(CFTR):c.-448A>G rs943663200 0.00041
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.3873+2194A>G rs575989053 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.3154T>G (p.Phe1052Val) rs150212784 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.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000492.4(CFTR):c.54-6168A>G rs753840683 0.00037
NM_000492.4(CFTR):c.1766+73T>G rs397508299 0.00036
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
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.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) rs145540754 0.00031
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000492.4(CFTR):c.1584+12T>C rs193922502 0.00028
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.3874-540A>G rs565351573 0.00024
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
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.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 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.-4G>C rs369326781 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.2424T>C (p.Tyr808=) rs143954792 0.00015
NM_000492.4(CFTR):c.2665C>T (p.Leu889Phe) rs61738523 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000492.4(CFTR):c.54-8086A>G rs756806855 0.00015
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000492.4(CFTR):c.1679+16T>C rs397508262 0.00013
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.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
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.3274T>C (p.Tyr1092His) rs376968326 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.489+1G>T rs78756941 0.00011
NM_000492.4(CFTR):c.738G>A (p.Lys246=) rs35033453 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_000492.3(CFTR):c.-165G>A rs145483167 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 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.2619+2973A>G rs569442197 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.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.1210-15G>T rs947648829 0.00009
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.2909-6T>C rs369612622 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.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 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.1585-1G>A rs76713772 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.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000492.4(CFTR):c.3468+51C>A rs777394766 0.00007
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=) rs1800134 0.00007
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu) rs78742051 0.00007
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.1584+3292A>G rs147176173 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.1679+18G>A rs369294289 0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 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.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506 0.00006
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901 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.3783G>T (p.Leu1261=) rs771812900 0.00006
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636 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.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys) rs397508720 0.00006
NM_000492.4(CFTR):c.489+87A>G rs969399514 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.663G>A (p.Ala221=) rs758147990 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.1209+12T>A rs748021847 0.00005
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.1767-16T>C rs200170245 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.2475C>T (p.Asn825=) rs746961486 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=) rs1800116 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 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.510T>A (p.Arg170=) rs780772620 0.00005
NM_000492.4(CFTR):c.66A>G (p.Pro22=) rs748899228 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.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.1585-2061G>C rs187146610 0.00004
NM_000492.4(CFTR):c.1679+9C>G rs775440240 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.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.1807G>A (p.Val603Ile) rs143036685 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu) rs397508332 0.00004
NM_000492.4(CFTR):c.2052A>G (p.Lys684=) rs750642366 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.2805A>G (p.Leu935=) rs368967922 0.00004
NM_000492.4(CFTR):c.2832G>A (p.Val944=) rs193922512 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 0.00004
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln) rs769448889 0.00004
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala) rs397508511 0.00004
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=) rs142526976 0.00004
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu) rs397508542 0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 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.3718-2476G>A rs949635279 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 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.4206C>T (p.His1402=) rs368044495 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.579+1G>T rs77188391 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.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1047G>A (p.Ala349=) rs200520623 0.00003
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=) rs397508155 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.1164G>A (p.Thr388=) rs1800088 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.1397C>G (p.Ser466Ter) rs121908805 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.1466C>A (p.Ser489Ter) rs397508211 0.00003
NM_000492.4(CFTR):c.147A>G (p.Leu49=) rs140444668 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1500C>A (p.Gly500=) rs762619288 0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys) rs773018372 0.00003
NM_000492.4(CFTR):c.1585-19T>C rs778457306 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.1680-26T>C rs397508265 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.1734A>G (p.Leu578=) rs201025424 0.00003
NM_000492.4(CFTR):c.1766G>C (p.Ser589Thr) rs397508300 0.00003
NM_000492.4(CFTR):c.180G>C (p.Glu60Asp) rs569426839 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.1907T>C (p.Leu636Pro) rs374702882 0.00003
NM_000492.4(CFTR):c.1932C>G (p.Leu644=) rs779674687 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.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000492.4(CFTR):c.2703C>T (p.Asn901=) rs764201518 0.00003
NM_000492.4(CFTR):c.2736G>A (p.Ser912=) rs200901072 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.274-8T>C rs1186141962 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.2908+12G>C rs184074547 0.00003
NM_000492.4(CFTR):c.2908+15C>G rs766686188 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.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) rs1800113 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3239A>G (p.Lys1080Arg) rs564165440 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 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.4182T>C (p.Asp1394=) rs763937782 0.00003
NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu) rs1397796355 0.00003
NM_000492.4(CFTR):c.489+8T>G rs727504712 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.653T>A (p.Leu218Ter) rs397508777 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_000660.7(TGFB1):c.32T>A (p.Leu11Gln) rs867906741 0.00003
NM_000492.3(CFTR):c.-837T>C rs1415964307 0.00002
NM_000492.4(CFTR):c.1050C>G (p.Val350=) rs1038437842 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
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.1287C>T (p.Phe429=) rs763577850 0.00002
NM_000492.4(CFTR):c.1290C>T (p.Phe430=) rs764640445 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 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.1518C>A (p.Ile506=) rs1800092 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.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.1680-13A>G rs757981933 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 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.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.2016A>G (p.Glu672=) rs1312105870 0.00002
NM_000492.4(CFTR):c.2184T>G (p.Ser728=) rs779304728 0.00002
NM_000492.4(CFTR):c.2241G>A (p.Ala747=) rs146645194 0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=) rs201888075 0.00002
NM_000492.4(CFTR):c.2262G>C (p.Val754=) rs1201012182 0.00002
NM_000492.4(CFTR):c.2322A>T (p.Thr774=) rs778581398 0.00002
NM_000492.4(CFTR):c.2373A>G (p.Thr791=) rs202115503 0.00002
NM_000492.4(CFTR):c.2490+5G>T rs764466147 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.2568C>T (p.His856=) rs761255045 0.00002
NM_000492.4(CFTR):c.2620-17G>A rs1306021109 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.274-1G>A rs121908792 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.3024C>T (p.Val1008=) rs774643457 0.00002
NM_000492.4(CFTR):c.3033A>G (p.Leu1011=) rs773752573 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val) rs759394109 0.00002
NM_000492.4(CFTR):c.3368-10G>A rs1060504847 0.00002
NM_000492.4(CFTR):c.336T>C (p.Asp112=) rs909596175 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly) rs150326506 0.00002
NM_000492.4(CFTR):c.3627A>G (p.Gln1209=) rs770069168 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.3723C>A (p.Gly1241=) rs185065886 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu) rs752834717 0.00002
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=) rs547248892 0.00002
NM_000492.4(CFTR):c.3874-7G>A rs776663932 0.00002
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=) rs1800132 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.417C>T (p.His139=) rs760281820 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.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.589T>C (p.Leu197=) rs755619078 0.00002
NM_000492.4(CFTR):c.609C>T (p.Ile203=) rs1800081 0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 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.810A>G (p.Gln270=) rs767312350 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.988G>T (p.Gly330Ter) rs79031340 0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) rs193922533 0.00002
NC_000007.14:g.117478787A>G rs1195721615 0.00001
NM_000301.5(PLG):c.712G>A (p.Asp238Asn) rs756287836 0.00001
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.1006_1007insG (p.Ile336fs) rs397508138 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1026C>T (p.Phe342=) rs928312842 0.00001
NM_000492.4(CFTR):c.1036C>T (p.Leu346=) rs575762281 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.1081del (p.Trp361fs) rs387906361 0.00001
NM_000492.4(CFTR):c.1117-31A>G rs1554381590 0.00001
NM_000492.4(CFTR):c.1117-7T>C rs745505328 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.1150G>T (p.Glu384Ter) rs1799061745 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.1218G>A (p.Gly406=) rs532798256 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.1392+10T>C rs1371427830 0.00001
NM_000492.4(CFTR):c.1392+12G>T rs2896226 0.00001
NM_000492.4(CFTR):c.1393-13G>A rs779389972 0.00001
NM_000492.4(CFTR):c.1393-2A>G rs397508201 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.1407G>T (p.Met469Ile) rs143218779 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.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg) rs397508214 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.1545T>C (p.Tyr515=) rs747504631 0.00001
NM_000492.4(CFTR):c.1557C>T (p.Ser519=) rs757736710 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1584+1G>A rs397508230 0.00001
NM_000492.4(CFTR):c.1585-7G>A rs1367201083 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1587C>T (p.Asp529=) rs772895745 0.00001
NM_000492.4(CFTR):c.15T>C (p.Pro5=) rs751475070 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.1614T>A (p.Asn538Lys) rs1196851290 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.1632T>G (p.Gly544=) rs767846505 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro) rs1791967656 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) rs193922504 0.00001
NM_000492.4(CFTR):c.1674A>G (p.Leu558=) rs770896561 0.00001
NM_000492.4(CFTR):c.1679+34G>T rs767901668 0.00001
NM_000492.4(CFTR):c.1679+5A>G rs397508264 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.1680-981T>C rs727502937 0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn) rs121909006 0.00001
NM_000492.4(CFTR):c.1707T>C (p.Tyr569=) rs397508278 0.00001
NM_000492.4(CFTR):c.1711T>C (p.Leu571=) rs774376246 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1732C>G (p.Leu578Val) rs979121392 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1766+8C>G rs1474138131 0.00001
NM_000492.4(CFTR):c.1770T>C (p.Cys590=) rs1277496713 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.1809C>T (p.Val603=) rs777795393 0.00001
NM_000492.4(CFTR):c.1811C>G (p.Thr604Ser) rs397508308 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 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.1845A>G (p.Lys615=) rs1792032957 0.00001
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser) rs1368033715 0.00001
NM_000492.4(CFTR):c.1926A>C (p.Ser642=) rs1554389299 0.00001
NM_000492.4(CFTR):c.1929A>G (p.Lys643=) rs1792035121 0.00001
NM_000492.4(CFTR):c.192G>A (p.Lys64=) rs1325969557 0.00001
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met) rs1485998437 0.00001
NM_000492.4(CFTR):c.2028T>C (p.Pro676=) rs751504707 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.2068A>G (p.Thr690Ala) rs780579840 0.00001
NM_000492.4(CFTR):c.2112A>G (p.Pro704=) rs926782023 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.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln) rs397508342 0.00001
NM_000492.4(CFTR):c.2142G>T (p.Val714=) rs1216958032 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.2220A>G (p.Pro740=) rs1792044298 0.00001
NM_000492.4(CFTR):c.222G>A (p.Arg74=) rs1562884025 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 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.2253C>T (p.Arg751=) rs760893687 0.00001
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser) rs766541549 0.00001
NM_000492.4(CFTR):c.2280G>A (p.Thr760=) rs138634146 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 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.234dup (p.Trp79fs) rs1189377616 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro) rs1291965190 0.00001
NM_000492.4(CFTR):c.2391C>T (p.Ala797=) rs773521854 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.2442A>G (p.Gln814=) rs1366393014 0.00001
NM_000492.4(CFTR):c.2460A>T (p.Ile820=) rs369664216 0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) rs397508378 0.00001
NM_000492.4(CFTR):c.2482G>A (p.Asp828Asn) rs759726447 0.00001
NM_000492.4(CFTR):c.2490+12T>A rs1185896776 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2490+7A>T rs751864459 0.00001
NM_000492.4(CFTR):c.2491-8T>C rs540776134 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.2537G>A (p.Trp846Ter) rs397508393 0.00001
NM_000492.4(CFTR):c.2544A>T (p.Thr848=) rs751242146 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.2565C>A (p.Val855=) rs1233428222 0.00001
NM_000492.4(CFTR):c.256A>G (p.Ile86Val) rs749432776 0.00001
NM_000492.4(CFTR):c.258C>A (p.Ile86=) rs374992300 0.00001
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser) rs1310658028 0.00001
NM_000492.4(CFTR):c.2619+17G>T rs1439697748 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.2691T>C (p.His897=) rs1792257064 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+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.274-13T>C rs1021474992 0.00001
NM_000492.4(CFTR):c.2742T>C (p.Tyr914=) rs769879940 0.00001
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu) rs770502501 0.00001
NM_000492.4(CFTR):c.2751C>T (p.Tyr917=) rs1274886789 0.00001
NM_000492.4(CFTR):c.2757C>T (p.Tyr919=) rs1408746819 0.00001
NM_000492.4(CFTR):c.2766A>G (p.Val922=) rs762906556 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.27C>T (p.Ala9=) rs1255831708 0.00001
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser) rs750655055 0.00001
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr) rs780528577 0.00001
NM_000492.4(CFTR):c.2808A>G (p.Pro936=) rs397508438 0.00001
NM_000492.4(CFTR):c.2810dup (p.Val938fs) rs193922510 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.2835G>A (p.Ser945=) rs193922513 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.2909-9A>G rs778526355 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 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.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.2931C>T (p.Ser977=) rs1333735364 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met) rs748430234 0.00001
NM_000492.4(CFTR):c.294G>A (p.Gln98=) rs1225964754 0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) rs397508467 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.2988+13A>T rs1182945291 0.00001
NM_000492.4(CFTR):c.2988+20G>A rs183819332 0.00001
NM_000492.4(CFTR):c.2994A>G (p.Leu998=) rs751537272 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.300C>G (p.Leu100=) rs1206224160 0.00001
NM_000492.4(CFTR):c.3013A>G (p.Ile1005Val) rs1562914085 0.00001
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter) rs397508484 0.00001
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=) rs537934752 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.3083T>G (p.Met1028Arg) rs397508494 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3108C>T (p.Thr1036=) rs773627677 0.00001
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter) rs397508500 0.00001
NM_000492.4(CFTR):c.3139+11G>C rs555185521 0.00001
NM_000492.4(CFTR):c.3139+19G>A rs751210436 0.00001
NM_000492.4(CFTR):c.3139+3A>G rs950336425 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000492.4(CFTR):c.3139_3139+1del rs397508505 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.3190A>G (p.Thr1064Ala) rs1792387784 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln) rs766126240 0.00001
NM_000492.4(CFTR):c.325T>C (p.Tyr109His) rs397508522 0.00001
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys) rs150020260 0.00001
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys) rs764434414 0.00001
NM_000492.4(CFTR):c.3282A>G (p.Ser1094=) rs757727766 0.00001
NM_000492.4(CFTR):c.3288G>A (p.Leu1096=) rs936512397 0.00001
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys) rs397508533 0.00001
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=) rs746620950 0.00001
NM_000492.4(CFTR):c.3308T>C (p.Ile1103Thr) rs1161781532 0.00001
NM_000492.4(CFTR):c.333G>A (p.Pro111=) rs776878618 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.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3375A>G (p.Gly1125=) rs751140170 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.3406G>A (p.Ala1136Thr) rs755968404 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.3441A>G (p.Val1147=) rs375687401 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.357C>T (p.Ile119=) rs1264742569 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000492.4(CFTR):c.3591C>T (p.His1197=) rs1393226501 0.00001
NM_000492.4(CFTR):c.3603T>C (p.Asp1201=) rs1399548884 0.00001
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395 0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765 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.3659del (p.Thr1220fs) rs121908811 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.3681A>G (p.Leu1227=) rs943312470 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.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3718-16C>T rs1311755783 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3744del (p.Lys1250fs) rs121908784 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 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.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.3780A>G (p.Leu1260=) rs112339787 0.00001
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg) rs766370233 0.00001
NM_000492.4(CFTR):c.3808del (p.Asp1270fs) rs763843966 0.00001
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616 0.00001
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr) rs397508619 0.00001
NM_000492.4(CFTR):c.3873+15T>G rs200482114 0.00001
NM_000492.4(CFTR):c.3873+7A>T rs752993761 0.00001
NM_000492.4(CFTR):c.3873+9A>G rs763211778 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.3903A>G (p.Arg1301=) rs774683612 0.00001
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter) rs397508643 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.3963+9G>A rs370196195 0.00001
NM_000492.4(CFTR):c.3964-6C>T rs1357128849 0.00001
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=) rs886061952 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.406C>T (p.Leu136=) rs1351515691 0.00001
NM_000492.4(CFTR):c.4087A>C (p.Lys1363Gln) rs1060503166 0.00001
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=) rs759891255 0.00001
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu) rs397508673 0.00001
NM_000492.4(CFTR):c.4107T>C (p.Leu1369=) rs772750690 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.4110T>C (p.Asp1370=) rs1793345654 0.00001
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu) rs397508677 0.00001
NM_000492.4(CFTR):c.4136+12A>G rs777853603 0.00001
NM_000492.4(CFTR):c.4137-4C>A rs766178879 0.00001
NM_000492.4(CFTR):c.4137-7T>C rs1400171855 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.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.4242+8T>C rs1258671235 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.4252del (p.Glu1418fs) rs1554397750 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.4312C>T (p.Arg1438Trp) rs397508711 0.00001
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln) rs975983947 0.00001
NM_000492.4(CFTR):c.4320C>T (p.Ala1440=) rs1292837576 0.00001
NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr) rs766659587 0.00001
NM_000492.4(CFTR):c.4336A>C (p.Arg1446=) rs985995406 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn) rs983279303 0.00001
NM_000492.4(CFTR):c.436C>T (p.His146Tyr) rs1798856136 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.475T>C (p.Leu159=) rs769183771 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.489+25A>G rs531830892 0.00001
NM_000492.4(CFTR):c.489+5T>C rs1453085631 0.00001
NM_000492.4(CFTR):c.489+7C>T rs770608125 0.00001
NM_000492.4(CFTR):c.490-7C>A rs374318903 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.53+3158A>G rs1264197967 0.00001
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr) rs397508747 0.00001
NM_000492.4(CFTR):c.537A>G (p.Gln179=) rs991635265 0.00001
NM_000492.4(CFTR):c.538C>G (p.Leu180Val) rs374163420 0.00001
NM_000492.4(CFTR):c.54-8T>A rs778197563 0.00001
NM_000492.4(CFTR):c.579+34A>G rs148209839 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.580-2A>G rs193922730 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.588A>G (p.Ala196=) rs749896021 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.612T>G (p.Ala204=) rs369247323 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser) rs397508772 0.00001
NM_000492.4(CFTR):c.640C>T (p.Leu214=) rs188457893 0.00001
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys) rs397508776 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.70T>G (p.Leu24Val) rs1056986309 0.00001
NM_000492.4(CFTR):c.720A>G (p.Leu240=) rs1344097861 0.00001
NM_000492.4(CFTR):c.721G>A (p.Gly241Arg) rs397508789 0.00001
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys) rs758012554 0.00001
NM_000492.4(CFTR):c.744-15T>C rs369149477 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.801A>G (p.Glu267=) rs1394905892 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 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.868C>T (p.Gln290Ter) rs397508808 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.870-2A>G rs1290078234 0.00001
NM_000492.4(CFTR):c.8G>T (p.Arg3Met) rs1052894635 0.00001
NM_000492.4(CFTR):c.900C>A (p.Ala300=) rs146652541 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.927C>G (p.Ala309=) rs1800084 0.00001
NM_000492.4(CFTR):c.93C>A (p.Arg31=) rs766315026 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000492.4(CFTR):c.942G>T (p.Gly314=) rs1244183935 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.972C>G (p.Pro324=) rs1799834 0.00001
NM_000492.4(CFTR):c.978A>G (p.Ala326=) rs757622174 0.00001
NM_000492.4(CFTR):c.979C>T (p.Leu327=) rs1360839108 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
A445E
CFTR, GLN524HIS
Multiple alleles
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)del
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
NC_000007.13:g.(117120202_117144306)_(117149197_117170952)del
NC_000007.13:g.(117120202_117144306)_(117188878_117199517)del
NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
NC_000007.13:g.(117149197_117170952)_(117180401_117182069)del
NC_000007.13:g.(117149197_117170952)_(117199710_117227792)del
NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup
NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del
NC_000007.13:g.(117174420_117175301)_(117175466_117176601)dup
NC_000007.13:g.(117175466_117176601)_(117199710_117227792)dup
NC_000007.13:g.(117176728_117180153)_(117180401_117182069)dup
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)del
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
NC_000007.13:g.(117199710_117227792)_(117254768_117267575)del
NC_000007.13:g.(117230494_117231987)_(117232712_117234983)dup
NC_000007.13:g.(117235113_117242879)_(117242918_117243585)dup
NC_000007.13:g.(117242918_117243585)_(117243837_117246727)dup
NC_000007.13:g.(117243837_117246727)_(117246808_117250572)dup
NC_000007.13:g.(117243837_117246727)_(117254768_117267575)dup
NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
NC_000007.13:g.(117246808_117250572)_(117251863_117254666)del
NC_000007.13:g.(117251863_117254666)_(117254768_117267575)dup
NC_000007.13:g.(117254768_117267575)_(117267825_117282491)dup
NC_000007.13:g.(117292986_117304741)_(117304915_117305512)dup
NC_000007.13:g.(117292986_117304741)_(117305619_117306961)del
NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
NC_000007.13:g.(?_117118376)_(117307162_?)dup
NC_000007.13:g.(?_117120016)_(117120202_117144306)del
NC_000007.13:g.(?_117120078)_(117308720_?)del
NC_000007.13:g.(?_117120136)_(117199729_?)del
NC_000007.13:g.(?_117120137)_(117173634_?)del
NC_000007.13:g.(?_117144294)_(117254777_?)dup
NC_000007.13:g.(?_117170943)_(117171255_?)del
NC_000007.13:g.(?_117170943)_(117182242_?)del
NC_000007.13:g.(?_117170943)_(117243859_?)dup
NC_000007.13:g.(?_117174320)_(117176752_?)del
NC_000007.13:g.(?_117176588)_(117176752_?)del
NC_000007.13:g.(?_117199476)_(117199720_?)del
NC_000007.13:g.(?_117199476)_(117280016_?)dup
NC_000007.13:g.(?_117199498)_(117199729_?)dup
NC_000007.13:g.(?_117218381)_(117254777_?)del
NC_000007.13:g.(?_117227774)_(117227921_?)del
NC_000007.13:g.(?_117234961)_(117235122_?)del
NC_000007.13:g.(?_117234964)_(117267864_?)dup
NC_000007.13:g.(?_117246713)_(117251872_?)del
NC_000007.13:g.(?_117254648)_(117254777_?)del
NC_000007.13:g.(?_117266272)_(117292995_?)del
NC_000007.13:g.(?_117267556)_(117267869_?)del
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.(?_117282468)_(117288374_?)del
NC_000007.13:g.(?_117292849)_(117307162_?)dup
NC_000007.13:g.(?_117304664)_(117306195_?)del
NC_000007.13:g.(?_117304722)_(117305638_?)del
NC_000007.13:g.(?_117304722)_(117307162_?)dup
NC_000007.13:g.117188661_117188689=
NC_000007.13:g.117243773_117243774insLINE
NC_000007.14:g.(117606754_117610518)_(117614714_117627521)del
NC_000007.14:g.(?_117478787)_(117480271_?)del
NC_000007.14:g.(?_117504233)_(117504391_?)del
NC_000007.14:g.(?_117504240)_(117509152_?)del
NC_000007.14:g.(?_117504240)_(117531201_?)del
NC_000007.14:g.(?_117504243)_(117509152_?)del
NC_000007.14:g.(?_117504253)_(117509142_?)del
NC_000007.14:g.(?_117509024)_(117509152_?)dup
NC_000007.14:g.(?_117530879)_(117535431_?)del
NC_000007.14:g.(?_117530879)_(117559675_?)del
NC_000007.14:g.(?_117530889)_(117540356_?)del
NC_000007.14:g.(?_117530893)_(117559661_?)del
NC_000007.14:g.(?_117548631)_(117548835_?)del
NC_000007.14:g.(?_117587719)_(117587867_?)del
NC_000007.14:g.(?_117587720)_(117614723_?)del
NC_000007.14:g.(?_117602729)_(117611828_?)del
NC_000007.14:g.(?_117602793)_(117611818_?)del
NC_000007.14:g.(?_117606659)_(117606786_?)del
NC_000007.14:g.(?_117606659)_(117614723_?)dup
NC_000007.14:g.(?_117610509)_(117611818_?)del
NC_000007.14:g.(?_117610509)_(117614723_?)del
NC_000007.14:g.(?_117614593)_(117614733_?)del
NC_000007.14:g.(?_117614603)_(117614764_?)del
NC_000007.14:g.(?_117664660)_(117665584_?)del
NC_000007.14:g.(?_117664678)_(117665574_?)del
NC_000007.14:g.(?_117664682)_(117665570_?)del
NC_000007.14:g.117479234del rs4148683
NC_000007.14:g.117479900C>A
NC_000007.14:g.117530899del
NC_000007.14:g.117660798_117670251delinsTAACT
NC_000007.14:g.117664688_117667108del
NG_016465.3:g.(37526_37529)_(58606_58609)del
NG_016465.4:g.13126_48866dup
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del
NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del
NM_000492.3(CFTR):c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del
NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del
NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1679+1_1680-1)del
NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
NM_000492.3(CFTR):c.(3367+1_3368-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
NM_000492.3(CFTR):c.(3873+1_3874-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del
NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup
NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del
NM_000492.3(CFTR):c.-232G>T
NM_000492.3(CFTR):c.-234T>A rs982968807
NM_000492.3(CFTR):c.-288G>C rs139688774
NM_000492.3(CFTR):c.-495C>T rs397507565
NM_000492.3(CFTR):c.-507A>G
NM_000492.3(CFTR):c.-512C>G
NM_000492.3(CFTR):c.-600dup rs747238661
NM_000492.3(CFTR):c.-674T>C rs1554372953
NM_000492.3(CFTR):c.-85C>G rs530414231
NM_000492.3(CFTR):c.-887_-885del rs397507564
NM_000492.3(CFTR):c.-893_-891del rs780557040
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-17_1210-12del rs3832534
NM_000492.3(CFTR):c.13196C>T rs1554398510
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs) rs1554391033
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.3(CFTR):c.2909delG rs397508458
NM_000492.3(CFTR):c.2989_3139del151 rs1562914028
NM_000492.3(CFTR):c.3376_3381delGAAGGA rs1554392764
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3965_3969dup rs1209386423
NM_000492.3(CFTR):c.4_53+69del119ins299
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.3(CFTR):c.54_164del111 rs1562882675
NM_000492.3(CFTR):c.744-?_1584+?dup
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
NM_000492.3(CFTR):c.[1397C>G;3209G>A]
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]
NM_000492.3(CFTR):c.[2735C>T;3731G>T]
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
NM_000492.3(CFTR):c.[350G>A;1210-12[5]]
NM_000492.3:c.(273+1_274-1)_(1584+1_1585-1)del
NM_000492.3:c.(?_-1)_(*1_?)del
NM_000492.3:c.1210-12T[(5_9)]
NM_000492.3:c.1585-?_1766+?del
NM_000492.3:c.274-?_1584+?dup
NM_000492.3:c.2989-?_3367+?del
NM_000492.3:c.2989-?_3468+?del
NM_000492.3:c.54-5842_489+401del
NM_000492.3:c.54-?_164+?del
NM_000492.3:c.54_273del
NM_000492.3:c.743+416_1584+2988dup
NM_000492.3:c.870-?_1584+?del
NM_000492.4(CFTR):c.*133del rs145697705
NM_000492.4(CFTR):c.*133dup rs145697705
NM_000492.4(CFTR):c.*5C>T
NM_000492.4(CFTR):c.*80T>G rs397508135
NM_000492.4(CFTR):c.*842del rs886061953
NM_000492.4(CFTR):c.-11C>T rs1797976181
NM_000492.4(CFTR):c.-13C>A
NM_000492.4(CFTR):c.-1C>G
NM_000492.4(CFTR):c.-2C>T rs770363945
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.-439G>A rs1797962499
NM_000492.4(CFTR):c.-7A>T
NM_000492.4(CFTR):c.-8G>A rs1800501
NM_000492.4(CFTR):c.-8GA[4] rs1554373081
NM_000492.4(CFTR):c.-939A>G rs1584763860
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) rs397508136
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1008_1019dup (p.Phe337_Ile340dup) rs397508140
NM_000492.4(CFTR):c.1009T>C (p.Phe337Leu) rs771716655
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1011C>G (p.Phe337Leu) rs1799029121
NM_000492.4(CFTR):c.1012A>G (p.Thr338Ala) rs397508142
NM_000492.4(CFTR):c.1012_1013del (p.Thr338fs)
NM_000492.4(CFTR):c.1014C>A (p.Thr338=)
NM_000492.4(CFTR):c.1016C>A (p.Thr339Asn)
NM_000492.4(CFTR):c.1016C>G (p.Thr339Ser)
NM_000492.4(CFTR):c.1017C>T (p.Thr339=) rs1359708278
NM_000492.4(CFTR):c.1018A>G (p.Ile340Val)
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn) rs1554381352
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1028G>T (p.Cys343Phe)
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.1032T>C (p.Ile344=)
NM_000492.4(CFTR):c.1035T>C (p.Val345=)
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.4(CFTR):c.1038G>A (p.Leu346=) rs2116684331
NM_000492.4(CFTR):c.1039C>A (p.Arg347Ser)
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.4(CFTR):c.1041C>G (p.Arg347=) rs2116684356
NM_000492.4(CFTR):c.1043T>C (p.Met348Thr)
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1047G>T (p.Ala349=) rs200520623
NM_000492.4(CFTR):c.1050C>T (p.Val350=)
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.1057C>T (p.Gln353Ter) rs397508148
NM_000492.4(CFTR):c.1058A>G (p.Gln353Arg)
NM_000492.4(CFTR):c.1059A>C (p.Gln353His) rs1800087
NM_000492.4(CFTR):c.1059A>G (p.Gln353=) rs1800087
NM_000492.4(CFTR):c.105A>C (p.Ser35=) rs2116635193
NM_000492.4(CFTR):c.105dup (p.Asp36fs) rs397508149
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.1068G>A (p.Trp356Ter) rs397508150
NM_000492.4(CFTR):c.1069del (p.Ala357fs) rs397508151
NM_000492.4(CFTR):c.1071T>C (p.Ala357=)
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
NM_000492.4(CFTR):c.1074A>G (p.Val358=) rs200708728
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) rs76879328
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) rs397508152
NM_000492.4(CFTR):c.1077A>G (p.Gln359=) rs761324191
NM_000492.4(CFTR):c.1078del (p.Thr360fs)
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys) rs75053309
NM_000492.4(CFTR):c.1079C>T (p.Thr360Ile)
NM_000492.4(CFTR):c.1080A>G (p.Thr360=) rs201246833
NM_000492.4(CFTR):c.1080del (p.Trp361fs)
NM_000492.4(CFTR):c.1081T>A (p.Trp361Arg) rs397508154
NM_000492.4(CFTR):c.1083del (p.Trp361fs) rs387906375
NM_000492.4(CFTR):c.1084T>C (p.Tyr362His)
NM_000492.4(CFTR):c.1084T>G (p.Tyr362Asp)
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs) rs1562892359
NM_000492.4(CFTR):c.1085A>G (p.Tyr362Cys)
NM_000492.4(CFTR):c.1086T>A (p.Tyr362Ter) rs397508155
NM_000492.4(CFTR):c.1086T>G (p.Tyr362Ter) rs397508155
NM_000492.4(CFTR):c.108C>T (p.Asp36=)
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
NM_000492.4(CFTR):c.1092T>A (p.Ser364=) rs1584789482
NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs) rs387906365
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro) rs76727851
NM_000492.4(CFTR):c.1095T>A (p.Leu365=)
NM_000492.4(CFTR):c.1098A>T (p.Gly366=)
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.1106_1111dup (p.Asn369_Lys370dup) rs397508156
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.1115del (p.Gln372fs) rs1562892387
NM_000492.4(CFTR):c.1116+12T>G
NM_000492.4(CFTR):c.1116+15T>A
NM_000492.4(CFTR):c.1116+18T>C
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1116+1G>C rs397508158
NM_000492.4(CFTR):c.1116+1G>T rs397508158
NM_000492.4(CFTR):c.1116+2T>A
NM_000492.4(CFTR):c.1116+2T>C
NM_000492.4(CFTR):c.1116+6G>A
NM_000492.4(CFTR):c.1116+7T>C rs200659687
NM_000492.4(CFTR):c.1116G>T (p.Gln372His) rs1584789514
NM_000492.4(CFTR):c.1117-12T>C
NM_000492.4(CFTR):c.1117-15C>G
NM_000492.4(CFTR):c.1117-17C>T
NM_000492.4(CFTR):c.1117-1G>A rs797045160
NM_000492.4(CFTR):c.1117-220_1117-4del rs2115881246
NM_000492.4(CFTR):c.1117-26_1117-25del rs397508159
NM_000492.4(CFTR):c.1117-2A>G rs1554381596
NM_000492.4(CFTR):c.1117-4A>G rs1799060630
NM_000492.4(CFTR):c.1117-5A>G rs397508161
NM_000492.4(CFTR):c.1117-64G>A
NM_000492.4(CFTR):c.1117-64G>C
NM_000492.4(CFTR):c.1117-6A>G
NM_000492.4(CFTR):c.1117-8A>G rs897417102
NM_000492.4(CFTR):c.1117-9T>C
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.1126C>T (p.Gln376Ter) rs1562892823
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
NM_000492.4(CFTR):c.112_113del (p.Tyr38fs) rs397508162
NM_000492.4(CFTR):c.1130dup (p.Gln378fs) rs397508163
NM_000492.4(CFTR):c.1131G>A (p.Lys377=)
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.1135G>A (p.Glu379Lys) rs397508165
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1136A>G (p.Glu379Gly)
NM_000492.4(CFTR):c.1137A>G (p.Glu379=)
NM_000492.4(CFTR):c.113A>G (p.Tyr38Cys)
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
NM_000492.4(CFTR):c.1146A>C (p.Thr382=)
NM_000492.4(CFTR):c.1146A>G (p.Thr382=)
NM_000492.4(CFTR):c.1146A>T (p.Thr382=)
NM_000492.4(CFTR):c.1147T>C (p.Leu383=)
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser) rs397508166
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.4(CFTR):c.114C>T (p.Tyr38=)
NM_000492.4(CFTR):c.1150G>A (p.Glu384Lys)
NM_000492.4(CFTR):c.1152A>G (p.Glu384=)
NM_000492.4(CFTR):c.1152del (p.Glu384fs) rs397508167
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.1155T>A (p.Tyr385Ter)
NM_000492.4(CFTR):c.1155T>C (p.Tyr385=)
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.1158C>T (p.Asn386=)
NM_000492.4(CFTR):c.1159T>C (p.Leu387=) rs2115882338
NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs)
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.4(CFTR):c.1161A>C (p.Leu387Phe)
NM_000492.4(CFTR):c.1161A>G (p.Leu387=) rs1799062301
NM_000492.4(CFTR):c.1162_1168del (p.Thr388fs) rs397508169
NM_000492.4(CFTR):c.1164G>T (p.Thr388=) rs1800088
NM_000492.4(CFTR):c.1165A>T (p.Thr389Ser)
NM_000492.4(CFTR):c.1166C>T (p.Thr389Ile)
NM_000492.4(CFTR):c.1167T>C (p.Thr389=) rs2115882403
NM_000492.4(CFTR):c.116A>C (p.Gln39Pro)
NM_000492.4(CFTR):c.1170A>C (p.Thr390=) rs2115882431
NM_000492.4(CFTR):c.1170A>G (p.Thr390=)
NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)
NM_000492.4(CFTR):c.1171_1209+6del
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala) rs397508170
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1176A>G (p.Val392=) rs542860881
NM_000492.4(CFTR):c.1177G>A (p.Val393Met)
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu) rs1562892874
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer) rs397508171
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.1185G>A (p.Glu395=)
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.1189del (p.Asn396_Val397insTer)
NM_000492.4(CFTR):c.1191A>T (p.Val397=)
NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys)
NM_000492.4(CFTR):c.1193C>T (p.Thr398Ile)
NM_000492.4(CFTR):c.1196C>A (p.Ala399Asp) rs146463120
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.4(CFTR):c.1197del (p.Phe400fs) rs1562892895
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.11C>T (p.Ser4Leu)
NM_000492.4(CFTR):c.1201T>C (p.Trp401Arg)
NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter) rs397508174
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter) rs397508175
NM_000492.4(CFTR):c.1209+10T>C
NM_000492.4(CFTR):c.1209+11T>C
NM_000492.4(CFTR):c.1209+13A>T
NM_000492.4(CFTR):c.1209+15A>G
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1209+18dup
NM_000492.4(CFTR):c.1209+1G>A rs397508176
NM_000492.4(CFTR):c.1209+1G>C
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1209+2T>A
NM_000492.4(CFTR):c.1209+2T>G rs1584790302
NM_000492.4(CFTR):c.1209+568A>G
NM_000492.4(CFTR):c.1209+80G>A rs948980243
NM_000492.4(CFTR):c.1209+9T>G
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp) rs397508177
NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)
NM_000492.4(CFTR):c.120C>T (p.Ile40=) rs376538363
NM_000492.4(CFTR):c.1210-11_1210-10insGT rs1584793368
NM_000492.4(CFTR):c.1210-11_1210-10insGTG
NM_000492.4(CFTR):c.1210-11_1210-10insGTGT
NM_000492.4(CFTR):c.1210-11_1210-9delinsG rs2115902456
NM_000492.4(CFTR):c.1210-11delinsGTG rs1584793368
NM_000492.4(CFTR):c.1210-11delinsGTGTG
NM_000492.4(CFTR):c.1210-12= rs1805177
NM_000492.4(CFTR):c.1210-12_1210-11insGTG rs4148705
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTT rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTTT rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTT rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTTT rs756031917
NM_000492.4(CFTR):c.1210-13_1210-10del rs765376630
NM_000492.4(CFTR):c.1210-13_1210-11del rs2115902247
NM_000492.4(CFTR):c.1210-13_1210-11dup
NM_000492.4(CFTR):c.1210-13_1210-8del rs1399483116
NM_000492.4(CFTR):c.1210-14_1210-13insTT
NM_000492.4(CFTR):c.1210-15_1210-10del rs2115902212
NM_000492.4(CFTR):c.1210-15_1210-13delinsT rs1584793324
NM_000492.4(CFTR):c.1210-15_1210-13delinsTT
NM_000492.4(CFTR):c.1210-15_1210-13delinsTTT
NM_000492.4(CFTR):c.1210-17G>T
NM_000492.4(CFTR):c.1210-17_1210-10del rs1799207704
NM_000492.4(CFTR):c.1210-17_1210-11del rs2115902199
NM_000492.4(CFTR):c.1210-17_1210-13delinsTTT
NM_000492.4(CFTR):c.1210-19G>A
NM_000492.4(CFTR):c.1210-1G>C rs397508178
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.4(CFTR):c.1210-307GT[14] rs3034794
NM_000492.4(CFTR):c.1210-30T>G
NM_000492.4(CFTR):c.1210-34=
NM_000492.4(CFTR):c.1210-34TG[10] rs3832534
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000492.4(CFTR):c.1210-34TG[13] rs3832534
NM_000492.4(CFTR):c.1210-34TG[9] rs3832534
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.1210-6dup rs1805177
NM_000492.4(CFTR):c.1210-9_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.1211_1392+1del rs1562894928
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1212A>T (p.Gly404=)
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu) rs559197407
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val) rs397508180
NM_000492.4(CFTR):c.1221A>G (p.Glu407=) rs2115902714
NM_000492.4(CFTR):c.1221del (p.Glu407fs)
NM_000492.4(CFTR):c.1222T>C (p.Leu408=)
NM_000492.4(CFTR):c.1224_1227del (p.Phe409fs)
NM_000492.4(CFTR):c.122C>G (p.Pro41Arg)
NM_000492.4(CFTR):c.1234G>T (p.Ala412Ser)
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.1234del (p.Ala412fs) rs397508181
NM_000492.4(CFTR):c.1235del (p.Ala412fs) rs397508182
NM_000492.4(CFTR):c.123T>C (p.Pro41=) rs1798379857
NM_000492.4(CFTR):c.1240C>A (p.Gln414Lys)
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.4(CFTR):c.1243A>G (p.Asn415Asp)
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer) rs397508184
NM_000492.4(CFTR):c.1244del (p.Asn415fs)
NM_000492.4(CFTR):c.1245C>T (p.Asn415=)
NM_000492.4(CFTR):c.1245_1247del (p.Asn418del) rs1554382616
NM_000492.4(CFTR):c.1248T>C (p.Asn416=)
NM_000492.4(CFTR):c.1248dup (p.Asn417Ter) rs1584793451
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.1261dup (p.Thr421fs) rs2115903081
NM_000492.4(CFTR):c.1263T>C (p.Thr421=)
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.1269T>C (p.Asn423=) rs376039579
NM_000492.4(CFTR):c.1272T>C (p.Gly424=) rs2115903186
NM_000492.4(CFTR):c.1272T>G (p.Gly424=)
NM_000492.4(CFTR):c.1275T>C (p.Asp425=) rs1562895009
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.1284C>G (p.Leu428=)
NM_000492.4(CFTR):c.1287C>A (p.Phe429Leu) rs763577850
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
NM_000492.4(CFTR):c.1290del (p.Phe430fs)
NM_000492.4(CFTR):c.1291A>C (p.Ser431Arg)
NM_000492.4(CFTR):c.1295A>G (p.Asn432Ser)
NM_000492.4(CFTR):c.1296T>C (p.Asn432=)
NM_000492.4(CFTR):c.1299C>A (p.Phe433Leu) rs11531593
NM_000492.4(CFTR):c.1299C>T (p.Phe433=)
NM_000492.4(CFTR):c.12G>T (p.Ser4=) rs1158877973
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs) rs397508186
NM_000492.4(CFTR):c.1302A>G (p.Ser434=)
NM_000492.4(CFTR):c.1303C>G (p.Leu435Val)
NM_000492.4(CFTR):c.1304T>C (p.Leu435Pro)
NM_000492.4(CFTR):c.1305T>C (p.Leu435=)
NM_000492.4(CFTR):c.1308T>G (p.Leu436=)
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>C (p.Pro439=) rs1562895052
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.1319_1323del (p.Val440fs)
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly) rs1800074
NM_000492.4(CFTR):c.131A>T (p.Asp44Val)
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.4(CFTR):c.1324A>T (p.Lys442Ter) rs1584793546
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1328A>T (p.Asp443Val)
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer) rs397508190
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1331T>G (p.Ile444Ser) rs397508191
NM_000492.4(CFTR):c.1332T>C (p.Ile444=)
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met) rs1799214404
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs) rs749854099
NM_000492.4(CFTR):c.1334del (p.Asn445fs) rs2115903565
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1341G>A (p.Lys447=)
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.1347_1350del (p.Arg450fs) rs1562895104
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.1353A>G (p.Gly451=) rs1220983447
NM_000492.4(CFTR):c.1355A>C (p.Gln452Pro) rs397508193
NM_000492.4(CFTR):c.1356G>A (p.Gln452=)
NM_000492.4(CFTR):c.1358T>C (p.Leu453Ser) rs1562895128
NM_000492.4(CFTR):c.1359G>A (p.Leu453=)
NM_000492.4(CFTR):c.135T>A (p.Ser45=)
NM_000492.4(CFTR):c.135T>G (p.Ser45=)
NM_000492.4(CFTR):c.1360_1381delinsATAGAAA rs1554382656
NM_000492.4(CFTR):c.1362G>A (p.Leu454=)
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs) rs797045161
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe) rs397508195
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1368del (p.Ala457fs)
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.1371T>C (p.Ala457=)
NM_000492.4(CFTR):c.1371T>G (p.Ala457=)
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.1376C>T (p.Ser459Phe)
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr) rs1799216405
NM_000492.4(CFTR):c.1386A>G (p.Ala462=)
NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp) rs1163866901
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu) rs1799216615
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr) rs1584793633
NM_000492.4(CFTR):c.1392+11T>C
NM_000492.4(CFTR):c.1392+11del
NM_000492.4(CFTR):c.1392+12del
NM_000492.4(CFTR):c.1392+1498G>A
NM_000492.4(CFTR):c.1392+14T>G
NM_000492.4(CFTR):c.1392+15C>G
NM_000492.4(CFTR):c.1392+16T>A
NM_000492.4(CFTR):c.1392+19A>G
NM_000492.4(CFTR):c.1392+19A>T
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1392+2787A>G
NM_000492.4(CFTR):c.1392+60dup rs746240178
NM_000492.4(CFTR):c.1392+7C>T
NM_000492.4(CFTR):c.1392+9T>C
NM_000492.4(CFTR):c.1392G>A (p.Lys464=)
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.4(CFTR):c.1393-10T>C rs1799416100
NM_000492.4(CFTR):c.1393-18G>A rs397508199
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1393-2042A>G
NM_000492.4(CFTR):c.1393-20A>G
NM_000492.4(CFTR):c.1393-26_1393-16del
NM_000492.4(CFTR):c.1393-3C>A
NM_000492.4(CFTR):c.1393-4C>A rs1799416194
NM_000492.4(CFTR):c.1393-4C>G rs1799416194
NM_000492.4(CFTR):c.1393-4C>T
NM_000492.4(CFTR):c.1393-565G>T
NM_000492.4(CFTR):c.1393-6T>C rs966524603
NM_000492.4(CFTR):c.1393-8A>T rs2115937364
NM_000492.4(CFTR):c.1394C>T (p.Thr465Ile)
NM_000492.4(CFTR):c.1395T>C (p.Thr465=)
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter) rs121908805
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)
NM_000492.4(CFTR):c.1401T>C (p.Leu467=)
NM_000492.4(CFTR):c.1402C>T (p.Leu468=)
NM_000492.4(CFTR):c.1403T>C (p.Leu468Pro) rs397508202
NM_000492.4(CFTR):c.1405A>T (p.Met469Leu)
NM_000492.4(CFTR):c.1409T>A (p.Val470Glu) rs1261167416
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
NM_000492.4(CFTR):c.1414A>G (p.Met472Val)
NM_000492.4(CFTR):c.1415dup (p.Met472fs) rs1554384343
NM_000492.4(CFTR):c.1417G>A (p.Gly473Arg) rs1799417518
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.4(CFTR):c.1420G>C (p.Glu474Gln)
NM_000492.4(CFTR):c.1420G>T (p.Glu474Ter) rs756206533
NM_000492.4(CFTR):c.1422A>G (p.Glu474=) rs1222883922
NM_000492.4(CFTR):c.1423C>G (p.Leu475Val)
NM_000492.4(CFTR):c.1423C>T (p.Leu475=)
NM_000492.4(CFTR):c.1428G>A (p.Glu476=)
NM_000492.4(CFTR):c.142_145del (p.Asn48fs)
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu) rs886044297
NM_000492.4(CFTR):c.1431T>C (p.Pro477=)
NM_000492.4(CFTR):c.1433C>T (p.Ser478Leu)
NM_000492.4(CFTR):c.1434A>C (p.Ser478=)
NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter) rs397508207
NM_000492.4(CFTR):c.1437G>A (p.Glu479=) rs754152822
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.1446dup (p.Lys483Ter) rs397508209
NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter) rs1799418948
NM_000492.4(CFTR):c.1449G>A (p.Lys483=)
NM_000492.4(CFTR):c.1451A>G (p.His484Arg) rs1427892651
NM_000492.4(CFTR):c.1452C>T (p.His484=)
NM_000492.4(CFTR):c.1455T>C (p.Ser485=)
NM_000492.4(CFTR):c.1458A>G (p.Gly486=)
NM_000492.4(CFTR):c.1464T>C (p.Ile488=) rs1799419575
NM_000492.4(CFTR):c.1464_1476del (p.Cys491fs) rs2115937867
NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs) rs2115937855
NM_000492.4(CFTR):c.1467A>G (p.Ser489=) rs1799419729
NM_000492.4(CFTR):c.1469del (p.Phe490fs) rs775663783
NM_000492.4(CFTR):c.1470C>T (p.Phe490=) rs1799420001
NM_000492.4(CFTR):c.1471T>C (p.Cys491Arg) rs397508213
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.4(CFTR):c.1472_1482del (p.Cys491fs)
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1479G>A (p.Gln493=)
NM_000492.4(CFTR):c.147A>C (p.Leu49=)
NM_000492.4(CFTR):c.147_150del (p.Ser50fs) rs1562882755
NM_000492.4(CFTR):c.1480T>G (p.Phe494Val)
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
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.1485C>G (p.Ser495=)
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.4(CFTR):c.1486del (p.Trp496fs) rs1584798316
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter) rs200626971
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro) rs397508217
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.14C>G (p.Pro5Arg)
NM_000492.4(CFTR):c.1500C>G (p.Gly500=)
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile) rs1799421850
NM_000492.4(CFTR):c.1503C>T (p.Thr501=)
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn) rs397508222
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser) rs397508222
NM_000492.4(CFTR):c.1507A>G (p.Lys503Glu)
NM_000492.4(CFTR):c.1509A>G (p.Lys503=)
NM_000492.4(CFTR):c.150T>G (p.Ser50=) rs2116635296
NM_000492.4(CFTR):c.1510G>C (p.Glu504Gln) rs397508223
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter) rs397508223
NM_000492.4(CFTR):c.1515T>C (p.Asn505=)
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser) rs397508224
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe) rs1801178
NM_000492.4(CFTR):c.1524T>C (p.Phe508=)
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg) rs1562898465
NM_000492.4(CFTR):c.1526G>T (p.Gly509Val)
NM_000492.4(CFTR):c.1528G>A (p.Val510Ile)
NM_000492.4(CFTR):c.1528G>T (p.Val510Phe) rs752955846
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs) rs1562898471
NM_000492.4(CFTR):c.1535A>G (p.Tyr512Cys) rs1048256995
NM_000492.4(CFTR):c.1536T>C (p.Tyr512=) rs2115938553
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1539T>C (p.Asp513=)
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
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.1542A>G (p.Glu514=)
NM_000492.4(CFTR):c.1543T>G (p.Tyr515Asp)
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs) rs1301983423
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly) rs397508226
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs) rs1562898489
NM_000492.4(CFTR):c.1547G>T (p.Arg516Ile)
NM_000492.4(CFTR):c.1547_1550del (p.Arg516fs)
NM_000492.4(CFTR):c.154A>T (p.Lys52Ter)
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys) rs1562898496
NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter) rs2115938731
NM_000492.4(CFTR):c.1551C>T (p.Tyr517=)
NM_000492.4(CFTR):c.1557C>G (p.Ser519Arg)
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp) rs1562898510
NM_000492.4(CFTR):c.155A>T (p.Lys52Ile)
NM_000492.4(CFTR):c.1560C>T (p.Val520=) rs768151081
NM_000492.4(CFTR):c.1561A>C (p.Ile521Leu)
NM_000492.4(CFTR):c.1563C>G (p.Ile521Met)
NM_000492.4(CFTR):c.156_163dup (p.Arg55fs)
NM_000492.4(CFTR):c.156del (p.Lys52fs) rs1346705436
NM_000492.4(CFTR):c.156dup (p.Leu53fs)
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter) rs397508227
NM_000492.4(CFTR):c.1573del (p.Gln525fs) rs774433839
NM_000492.4(CFTR):c.1576C>T (p.Leu526=)
NM_000492.4(CFTR):c.1577T>C (p.Leu526Pro)
NM_000492.4(CFTR):c.1579G>T (p.Glu527Ter)
NM_000492.4(CFTR):c.1579_1584+11del
NM_000492.4(CFTR):c.157T>C (p.Leu53=)
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
NM_000492.4(CFTR):c.1584+1000del
NM_000492.4(CFTR):c.1584+10206A>G
NM_000492.4(CFTR):c.1584+10T>G
NM_000492.4(CFTR):c.1584+11_1584+13dup rs1554384454
NM_000492.4(CFTR):c.1584+12309T>C
NM_000492.4(CFTR):c.1584+13G>A
NM_000492.4(CFTR):c.1584+15G>T
NM_000492.4(CFTR):c.1584+18A>C
NM_000492.4(CFTR):c.1584+19del
NM_000492.4(CFTR):c.1584+1G>T rs397508230
NM_000492.4(CFTR):c.1584+2T>C rs397508231
NM_000492.4(CFTR):c.1584+4639G>T rs575943791
NM_000492.4(CFTR):c.1584+4A>T rs953352440
NM_000492.4(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.4(CFTR):c.1584+5G>C
NM_000492.4(CFTR):c.1584+6457A>C
NM_000492.4(CFTR):c.1584+9C>T rs2115939119
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.1585-13846A>G
NM_000492.4(CFTR):c.1585-15T>G
NM_000492.4(CFTR):c.1585-2211A>T
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1585-5A>C
NM_000492.4(CFTR):c.1585-7020G>A
NM_000492.4(CFTR):c.1585-7957A>G rs145778105
NM_000492.4(CFTR):c.1585-7G>C rs1367201083
NM_000492.4(CFTR):c.1585-7G>T rs1367201083
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1585-9218G>A
NM_000492.4(CFTR):c.1585-9T>A rs397508234
NM_000492.4(CFTR):c.1585-9T>C rs397508234
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn) rs397508235
NM_000492.4(CFTR):c.1586A>G (p.Asp529Gly) rs397508236
NM_000492.4(CFTR):c.1586_1679+1del rs1562906265
NM_000492.4(CFTR):c.1588A>C (p.Ile530Leu) rs397508237
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)
NM_000492.4(CFTR):c.1595A>G (p.Lys532Arg)
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu) rs397508238
NM_000492.4(CFTR):c.159G>A (p.Leu53=) rs2116635315
NM_000492.4(CFTR):c.15del (p.Leu6fs)
NM_000492.4(CFTR):c.1602A>G (p.Ala534=) rs1584810152
NM_000492.4(CFTR):c.1603G>A (p.Glu535Lys)
NM_000492.4(CFTR):c.1605G>A (p.Glu535=)
NM_000492.4(CFTR):c.1606A>T (p.Lys536Ter) rs148173473
NM_000492.4(CFTR):c.1610A>G (p.Asp537Gly)
NM_000492.4(CFTR):c.1611C>T (p.Asp537=)
NM_000492.4(CFTR):c.1611_1612del (p.Asp537fs) rs397508239
NM_000492.4(CFTR):c.1612A>C (p.Asn538His)
NM_000492.4(CFTR):c.1615del (p.Asn538_Ile539insTer)
NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter) rs1584810167
NM_000492.4(CFTR):c.1619T>C (p.Val540Ala)
NM_000492.4(CFTR):c.161A>C (p.Glu54Ala)
NM_000492.4(CFTR):c.161A>G (p.Glu54Gly)
NM_000492.4(CFTR):c.1620T>C (p.Val540=) rs1791965009
NM_000492.4(CFTR):c.1622T>C (p.Leu541Pro)
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
NM_000492.4(CFTR):c.1625del (p.Gly542fs) rs2116017718
NM_000492.4(CFTR):c.1626A>G (p.Gly542=) rs2116017741
NM_000492.4(CFTR):c.1629A>G (p.Glu543=)
NM_000492.4(CFTR):c.1631G>T (p.Gly544Val) rs397508241
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val) rs1387755887
NM_000492.4(CFTR):c.1636A>C (p.Ile546Leu)
NM_000492.4(CFTR):c.1638C>T (p.Ile546=) rs1476532238
NM_000492.4(CFTR):c.163A>G (p.Arg55Gly)
NM_000492.4(CFTR):c.164+10T>A rs1310634696
NM_000492.4(CFTR):c.164+10T>C rs1310634696
NM_000492.4(CFTR):c.164+10delinsATGA
NM_000492.4(CFTR):c.164+14C>G
NM_000492.4(CFTR):c.164+15A>G
NM_000492.4(CFTR):c.164+16T>C
NM_000492.4(CFTR):c.164+18G>A
NM_000492.4(CFTR):c.164+1G>A rs397508243
NM_000492.4(CFTR):c.164+1G>C rs397508243
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.164+2T>A rs121908800
NM_000492.4(CFTR):c.164+2T>C rs121908800
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.164+3A>G
NM_000492.4(CFTR):c.164+4dup rs397508244
NM_000492.4(CFTR):c.164+5G>C rs2116635341
NM_000492.4(CFTR):c.164+6T>C
NM_000492.4(CFTR):c.164+9A>G
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.164+9_164+10insATG rs1798381614
NM_000492.4(CFTR):c.1640C>G (p.Thr547Arg)
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs) rs397508246
NM_000492.4(CFTR):c.1643_1644delinsCT (p.Leu548Pro)
NM_000492.4(CFTR):c.1644G>T (p.Leu548=)
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile) rs121908755
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg) rs121909005
NM_000492.4(CFTR):c.1647T>C (p.Ser549=) rs121909005
NM_000492.4(CFTR):c.1648G>A (p.Gly550Arg) rs397508247
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) rs397508247
NM_000492.4(CFTR):c.164G>A (p.Arg55Lys)
NM_000492.4(CFTR):c.165-12A>C
NM_000492.4(CFTR):c.165-12dup rs2116641261
NM_000492.4(CFTR):c.165-17T>C
NM_000492.4(CFTR):c.165-1G>A rs397508249
NM_000492.4(CFTR):c.165-2A>C rs397508250
NM_000492.4(CFTR):c.165-2A>G rs397508250
NM_000492.4(CFTR):c.165-2del rs1798467599
NM_000492.4(CFTR):c.165-4G>A rs2116641277
NM_000492.4(CFTR):c.165-4G>T
NM_000492.4(CFTR):c.165-50A>G rs369949496
NM_000492.4(CFTR):c.165-7T>G rs2116641270
NM_000492.4(CFTR):c.165-9C>A
NM_000492.4(CFTR):c.1650del (p.Gly551fs) rs397508251
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1652G>T (p.Gly551Val) rs75527207
NM_000492.4(CFTR):c.1652del (p.Gly551fs) rs397508252
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys) rs76554633
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1656A>G (p.Gln552=)
NM_000492.4(CFTR):c.1656del (p.Gln552fs) rs397508253
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly) rs74597325
NM_000492.4(CFTR):c.1660_1661insA (p.Ala554fs) rs397508254
NM_000492.4(CFTR):c.1661C>G (p.Ala554Gly)
NM_000492.4(CFTR):c.1662A>G (p.Ala554=)
NM_000492.4(CFTR):c.1663A>G (p.Arg555Gly) rs397508255
NM_000492.4(CFTR):c.1663A>T (p.Arg555Ter)
NM_000492.4(CFTR):c.1666A>C (p.Ile556Leu)
NM_000492.4(CFTR):c.1668T>C (p.Ile556=) rs1232726281
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter) rs397508256
NM_000492.4(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.4(CFTR):c.1672_1673del (p.Leu558fs)
NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)
NM_000492.4(CFTR):c.1674del (p.Ala559fs) rs397508258
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.1675G>T (p.Ala559Ser) rs75549581
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly) rs397508260
NM_000492.4(CFTR):c.1679+116G>T rs207468451
NM_000492.4(CFTR):c.1679+11A>G
NM_000492.4(CFTR):c.1679+12_1679+15del
NM_000492.4(CFTR):c.1679+14T>C
NM_000492.4(CFTR):c.1679+16T>A
NM_000492.4(CFTR):c.1679+17T>C
NM_000492.4(CFTR):c.1679+17T>G
NM_000492.4(CFTR):c.1679+18G>C
NM_000492.4(CFTR):c.1679+18G>T rs369294289
NM_000492.4(CFTR):c.1679+19G>A
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1679+1G>C rs397508263
NM_000492.4(CFTR):c.1679+8A>G rs769716650
NM_000492.4(CFTR):c.1679+901C>T
NM_000492.4(CFTR):c.1679+9_1679+12del
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.167A>G (p.Glu56Gly) rs1554376387
NM_000492.4(CFTR):c.1680-1071A>G
NM_000492.4(CFTR):c.1680-19A>C
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-20A>C
NM_000492.4(CFTR):c.1680-2dup rs1554389008
NM_000492.4(CFTR):c.1680-717A>G
NM_000492.4(CFTR):c.1680-871_1680-870delinsGA rs727504811
NM_000492.4(CFTR):c.1680-877G>A rs397508261
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680-883A>G rs1554388867
NM_000492.4(CFTR):c.1680-885T>C rs1281580863
NM_000492.4(CFTR):c.1680-9T>C rs1252191433
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)
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.1686A>G (p.Val562=)
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His) rs121909006
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp) rs121909006
NM_000492.4(CFTR):c.1688A>G (p.Tyr563Cys)
NM_000492.4(CFTR):c.1689C>A (p.Tyr563Ter)
NM_000492.4(CFTR):c.168A>G (p.Glu56=)
NM_000492.4(CFTR):c.168del (p.Glu56fs) rs397508269
NM_000492.4(CFTR):c.1690A>G (p.Lys564Glu)
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
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.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.16C>G (p.Leu6Val) rs1554373095
NM_000492.4(CFTR):c.16C>T (p.Leu6=) rs1554373095
NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala) rs1562907186
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.4(CFTR):c.1704G>A (p.Leu568=) rs397508275
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His) rs397508276
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys) rs397508277
NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter) rs397508278
NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter)
NM_000492.4(CFTR):c.1709T>C (p.Leu570Ser)
NM_000492.4(CFTR):c.1709del (p.Leu570fs)
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter) rs397508279
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.1714_1715del (p.Asp572fs) rs397508281
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly) rs1792007322
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
NM_000492.4(CFTR):c.1719T>A (p.Ser573=)
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser) rs397508283
NM_000492.4(CFTR):c.1722T>A (p.Pro574=)
NM_000492.4(CFTR):c.1726G>T (p.Gly576Ter) rs397508284
NM_000492.4(CFTR):c.172G>A (p.Asp58Asn) rs397508285
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter) rs55928397
NM_000492.4(CFTR):c.1732C>T (p.Leu578=) rs979121392
NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs) rs1562907232
NM_000492.4(CFTR):c.1735G>A (p.Asp579Asn)
NM_000492.4(CFTR):c.1735G>C (p.Asp579His)
NM_000492.4(CFTR):c.1735G>T (p.Asp579Tyr) rs397508287
NM_000492.4(CFTR):c.1735_1736del (p.Asp579fs)
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.4(CFTR):c.1738G>A (p.Val580Ile) rs2116025764
NM_000492.4(CFTR):c.1738del (p.Val580fs) rs397508289
NM_000492.4(CFTR):c.173A>G (p.Asp58Gly) rs397508291
NM_000492.4(CFTR):c.173A>T (p.Asp58Val)
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.1743A>T (p.Leu581Phe)
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser) rs397508292
NM_000492.4(CFTR):c.1745C>G (p.Thr582Arg) rs397508293
NM_000492.4(CFTR):c.1746A>C (p.Thr582=) rs751058333
NM_000492.4(CFTR):c.1746A>G (p.Thr582=)
NM_000492.4(CFTR):c.1749A>G (p.Glu583=) rs2116025833
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
NM_000492.4(CFTR):c.1758A>T (p.Ile586=) rs1462572352
NM_000492.4(CFTR):c.1759T>A (p.Phe587Ile)
NM_000492.4(CFTR):c.175dup (p.Arg59fs) rs397508294
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser) rs1562907260
NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter)
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+10T>C
NM_000492.4(CFTR):c.1766+11del rs754798684
NM_000492.4(CFTR):c.1766+16A>G rs2116026057
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1766+1G>T rs121908748
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.1766+3A>C rs397508298
NM_000492.4(CFTR):c.1766+3A>T rs397508298
NM_000492.4(CFTR):c.1766+5G>A rs121908796
NM_000492.4(CFTR):c.1766+79T>A
NM_000492.4(CFTR):c.1766+7T>A
NM_000492.4(CFTR):c.1766+80T>A
NM_000492.4(CFTR):c.1766+80T>C
NM_000492.4(CFTR):c.1766+81T>A
NM_000492.4(CFTR):c.1766+82A>T
NM_000492.4(CFTR):c.1766+8C>T rs1474138131
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile) rs397508300
NM_000492.4(CFTR):c.1767-11A>G
NM_000492.4(CFTR):c.1767-12del
NM_000492.4(CFTR):c.1767-13T>G rs2116029937
NM_000492.4(CFTR):c.1767-19A>G
NM_000492.4(CFTR):c.1767-1G>A rs1554389241
NM_000492.4(CFTR):c.1767-2A>G
NM_000492.4(CFTR):c.1767-4A>G rs2116029980
NM_000492.4(CFTR):c.1767-683_2619+550delinsCTACATTTGTACTA
NM_000492.4(CFTR):c.1767-7C>T rs2116029974
NM_000492.4(CFTR):c.1767-9A>G rs1223678085
NM_000492.4(CFTR):c.1769G>A (p.Cys590Tyr) rs1347776232
NM_000492.4(CFTR):c.1773C>T (p.Val591=)
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
NM_000492.4(CFTR):c.1778_1779del (p.Lys593fs)
NM_000492.4(CFTR):c.1779A>G (p.Lys593=) rs1217712466
NM_000492.4(CFTR):c.177A>G (p.Arg59=) rs893977457
NM_000492.4(CFTR):c.1780C>T (p.Leu594=)
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.4(CFTR):c.1782G>T (p.Leu594=) rs2116030062
NM_000492.4(CFTR):c.1783A>G (p.Met595Val) rs750140050
NM_000492.4(CFTR):c.1786_1787del (p.Met595_Ala596insTer) rs397508301
NM_000492.4(CFTR):c.1789A>G (p.Asn597Asp)
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys) rs77284892
NM_000492.4(CFTR):c.178G>C (p.Glu60Gln) rs77284892
NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter) rs397508302
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs) rs397508303
NM_000492.4(CFTR):c.1797T>C (p.Thr599=)
NM_000492.4(CFTR):c.1798A>G (p.Arg600Gly) rs397508305
NM_000492.4(CFTR):c.179_180del (p.Glu60fs) rs1584776308
NM_000492.4(CFTR):c.1801A>G (p.Ile601Val)
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.4(CFTR):c.1801del (p.Ile601fs) rs1792031758
NM_000492.4(CFTR):c.1802T>C (p.Ile601Thr) rs397508307
NM_000492.4(CFTR):c.1804T>C (p.Leu602=) rs1380798382
NM_000492.4(CFTR):c.1806G>T (p.Leu602Phe)
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe) rs143036685
NM_000492.4(CFTR):c.1807del (p.Val603fs)
NM_000492.4(CFTR):c.180G>A (p.Glu60=)
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.1811del (p.Thr604fs)
NM_000492.4(CFTR):c.181C>T (p.Leu61=)
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1821G>A (p.Met607Ile)
NM_000492.4(CFTR):c.1822del (p.Glu608fs)
NM_000492.4(CFTR):c.1823A>G (p.Glu608Gly) rs397508309
NM_000492.4(CFTR):c.1824A>G (p.Glu608=) rs2116030297
NM_000492.4(CFTR):c.1825C>T (p.His609Tyr) rs2116030305
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.4(CFTR):c.1828T>C (p.Leu610=)
NM_000492.4(CFTR):c.1829T>C (p.Leu610Ser) rs397508311
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.184G>A (p.Ala62Thr) rs1584776330
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.1856T>C (p.Leu619Ser) rs397508313
NM_000492.4(CFTR):c.1859A>C (p.His620Pro) rs397508314
NM_000492.4(CFTR):c.1860T>C (p.His620=) rs397508315
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter) rs1792033327
NM_000492.4(CFTR):c.1863A>G (p.Glu621=)
NM_000492.4(CFTR):c.1867_1869delinsG (p.Ser623fs)
NM_000492.4(CFTR):c.1867dup (p.Ser623fs)
NM_000492.4(CFTR):c.1870A>T (p.Ser624Cys)
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
NM_000492.4(CFTR):c.1874A>C (p.Tyr625Ser)
NM_000492.4(CFTR):c.1875T>C (p.Tyr625=)
NM_000492.4(CFTR):c.1881T>C (p.Tyr627=)
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1888T>C (p.Phe630Leu)
NM_000492.4(CFTR):c.1890T>C (p.Phe630=)
NM_000492.4(CFTR):c.1891dup (p.Ser631fs)
NM_000492.4(CFTR):c.1893_1897del (p.Glu632fs)
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.4(CFTR):c.1898T>C (p.Leu633Pro) rs397508318
NM_000492.4(CFTR):c.1899C>T (p.Leu633=)
NM_000492.4(CFTR):c.189A>G (p.Ser63=)
NM_000492.4(CFTR):c.1902A>C (p.Gln634His)
NM_000492.4(CFTR):c.1902A>G (p.Gln634=) rs2116030586
NM_000492.4(CFTR):c.1904del (p.Asn635fs) rs1381239923
NM_000492.4(CFTR):c.1905T>A (p.Asn635Lys)
NM_000492.4(CFTR):c.1905T>C (p.Asn635=)
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys) rs397508320
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter) rs397508320
NM_000492.4(CFTR):c.190A>G (p.Lys64Glu)
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.1915G>C (p.Asp639His)
NM_000492.4(CFTR):c.1919_1920del (p.Asp639_Phe640insTer) rs397508322
NM_000492.4(CFTR):c.1920T>G (p.Phe640Leu)
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs) rs1584812217
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs) rs121908779
NM_000492.4(CFTR):c.1924_1931del (p.Ser642fs)
NM_000492.4(CFTR):c.1927A>C (p.Lys643Gln)
NM_000492.4(CFTR):c.1932C>T (p.Leu644=)
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.1936G>T (p.Gly646Ter) rs1562907873
NM_000492.4(CFTR):c.1937del (p.Gly646fs)
NM_000492.4(CFTR):c.1938A>G (p.Gly646=)
NM_000492.4(CFTR):c.1941T>C (p.Cys647=)
NM_000492.4(CFTR):c.1943A>T (p.Asp648Val) rs121909033
NM_000492.4(CFTR):c.1943del (p.Asp648fs) rs1481564133
NM_000492.4(CFTR):c.1947T>C (p.Ser649=)
NM_000492.4(CFTR):c.1949del (p.Phe650fs)
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.4(CFTR):c.1950C>T (p.Phe650=) rs200204024
NM_000492.4(CFTR):c.1953C>T (p.Asp651=)
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>C (p.Ser654=) rs1792036042
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.1966G>T (p.Glu656Ter) rs397508323
NM_000492.4(CFTR):c.1967A>G (p.Glu656Gly)
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter) rs1792036190
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp) rs1060503163
NM_000492.4(CFTR):c.1970G>A (p.Arg657Lys)
NM_000492.4(CFTR):c.1970del (p.Arg657fs) rs2116030992
NM_000492.4(CFTR):c.1972dup (p.Arg658fs)
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
NM_000492.4(CFTR):c.1974A>G (p.Arg658=) rs2116031024
NM_000492.4(CFTR):c.1976del (p.Asn659fs) rs121908809
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val) rs777973729
NM_000492.4(CFTR):c.1981del (p.Ile661fs) rs397508324
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.4(CFTR):c.198T>C (p.Asn66=)
NM_000492.4(CFTR):c.1990G>C (p.Glu664Gln)
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.1992G>T (p.Glu664Asp) rs1792036683
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) rs1177201180
NM_000492.4(CFTR):c.1995C>A (p.Thr665=)
NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter) rs1792036942
NM_000492.4(CFTR):c.1999C>T (p.His667Tyr)
NM_000492.4(CFTR):c.19G>T (p.Glu7Ter) rs121909045
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.2007C>T (p.Phe669=) rs958140362
NM_000492.4(CFTR):c.2009C>T (p.Ser670Leu)
NM_000492.4(CFTR):c.2010A>C (p.Ser670=)
NM_000492.4(CFTR):c.2012T>A (p.Leu671Ter) rs2116031354
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.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.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2019A>G (p.Gly673=) rs2116031424
NM_000492.4(CFTR):c.2020G>T (p.Asp674Tyr)
NM_000492.4(CFTR):c.2022T>C (p.Asp674=) rs1259091056
NM_000492.4(CFTR):c.2025T>G (p.Ala675=)
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.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.2044dup (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.2045C>A (p.Thr682Lys)
NM_000492.4(CFTR):c.2045del (p.Thr682fs) rs1584812361
NM_000492.4(CFTR):c.2045dup (p.Gln685fs) rs397508334
NM_000492.4(CFTR):c.2046A>G (p.Thr682=) rs2116031574
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2052A>T (p.Lys684Asn) rs750642366
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter) rs397508336
NM_000492.4(CFTR):c.2053dup (p.Gln685fs) rs797045162
NM_000492.4(CFTR):c.2054A>C (p.Gln685Pro)
NM_000492.4(CFTR):c.2058T>C (p.Ser686=)
NM_000492.4(CFTR):c.2058T>G (p.Ser686=) rs1470966740
NM_000492.4(CFTR):c.2058_2061dup (p.Lys688delinsPheTer)
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile) rs372421038
NM_000492.4(CFTR):c.2061T>C (p.Phe687=)
NM_000492.4(CFTR):c.2061_2062insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCTTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAACAATCTTTT (p.Lys688delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
NM_000492.4(CFTR):c.2062_2066delinsTTTTTGTTTG (p.Lys688fs)
NM_000492.4(CFTR):c.2064A>G (p.Lys688=)
NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter) rs1584812425
NM_000492.4(CFTR):c.2066A>C (p.Gln689Pro)
NM_000492.4(CFTR):c.2067G>A (p.Gln689=)
NM_000492.4(CFTR):c.206T>G (p.Leu69Arg)
NM_000492.4(CFTR):c.2070T>C (p.Thr690=)
NM_000492.4(CFTR):c.2072G>T (p.Gly691Val)
NM_000492.4(CFTR):c.2074G>T (p.Glu692Ter) rs397508337
NM_000492.4(CFTR):c.2075A>T (p.Glu692Val)
NM_000492.4(CFTR):c.2076G>A (p.Glu692=)
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.4(CFTR):c.2082G>A (p.Gly694=) rs1584812453
NM_000492.4(CFTR):c.2082G>C (p.Gly694=)
NM_000492.4(CFTR):c.2083G>A (p.Glu695Lys)
NM_000492.4(CFTR):c.2083dup (p.Glu695fs) rs397508339
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.4(CFTR):c.2089del (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2089dup (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.208A>G (p.Ile70Val)
NM_000492.4(CFTR):c.2094G>A (p.Lys698=)
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.2106C>G (p.Leu702=) rs1800102
NM_000492.4(CFTR):c.2106C>T (p.Leu702=) rs1800102
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.2109T>C (p.Asn703=) rs770386926
NM_000492.4(CFTR):c.2115C>A (p.Ile705=) rs1453360094
NM_000492.4(CFTR):c.2115C>T (p.Ile705=)
NM_000492.4(CFTR):c.2121T>A (p.Ser707=) rs2116031968
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
NM_000492.4(CFTR):c.2124A>T (p.Ile708=)
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly) rs121908760
NM_000492.4(CFTR):c.2127A>G (p.Arg709=) rs2116032010
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
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.2130A>G (p.Lys710=)
NM_000492.4(CFTR):c.2131T>C (p.Phe711Leu) rs1792042320
NM_000492.4(CFTR):c.2136C>T (p.Ser712=)
NM_000492.4(CFTR):c.2137A>G (p.Ile713Val)
NM_000492.4(CFTR):c.2139T>A (p.Ile713=)
NM_000492.4(CFTR):c.2139T>C (p.Ile713=) rs763930691
NM_000492.4(CFTR):c.2140G>T (p.Val714Leu) rs774199624
NM_000492.4(CFTR):c.2143C>G (p.Gln715Glu)
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter) rs397508343
NM_000492.4(CFTR):c.2145A>G (p.Gln715=)
NM_000492.4(CFTR):c.2145_2146delinsGT (p.Lys716Ter) rs397508344
NM_000492.4(CFTR):c.2146A>T (p.Lys716Ter) rs121909023
NM_000492.4(CFTR):c.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln) rs2116032118
NM_000492.4(CFTR):c.2148G>A (p.Lys716=) rs2116032125
NM_000492.4(CFTR):c.2151T>C (p.Thr717=)
NM_000492.4(CFTR):c.2151T>G (p.Thr717=) rs2116032144
NM_000492.4(CFTR):c.2152C>T (p.Pro718Ser)
NM_000492.4(CFTR):c.2154C>T (p.Pro718=)
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter) rs397508345
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter) rs397508346
NM_000492.4(CFTR):c.215C>G (p.Ala72Gly)
NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer)
NM_000492.4(CFTR):c.2166T>A (p.Asn722Lys)
NM_000492.4(CFTR):c.2166T>C (p.Asn722=)
NM_000492.4(CFTR):c.216C>G (p.Ala72=)
NM_000492.4(CFTR):c.216C>T (p.Ala72=) rs1033366496
NM_000492.4(CFTR):c.2170A>C (p.Ile724Leu)
NM_000492.4(CFTR):c.2171T>C (p.Ile724Thr)
NM_000492.4(CFTR):c.2172C>A (p.Ile724=)
NM_000492.4(CFTR):c.2172C>T (p.Ile724=) rs368599862
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
NM_000492.4(CFTR):c.2179G>T (p.Asp727Tyr)
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2181T>C (p.Asp727=) rs1792043547
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.2187T>C (p.Asp729=)
NM_000492.4(CFTR):c.2188G>A (p.Glu730Lys)
NM_000492.4(CFTR):c.2188G>T (p.Glu730Ter) rs397508349
NM_000492.4(CFTR):c.2189A>C (p.Glu730Ala)
NM_000492.4(CFTR):c.2190G>A (p.Glu730=)
NM_000492.4(CFTR):c.2192C>G (p.Pro731Arg)
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2200A>G (p.Arg734Gly)
NM_000492.4(CFTR):c.2202A>G (p.Arg734=)
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.2204G>A (p.Arg735Lys) rs397508352
NM_000492.4(CFTR):c.2205G>C (p.Arg735Ser) rs2116032368
NM_000492.4(CFTR):c.2208G>A (p.Leu736=)
NM_000492.4(CFTR):c.220C>A (p.Arg74=)
NM_000492.4(CFTR):c.2211C>T (p.Ser737=)
NM_000492.4(CFTR):c.2213T>G (p.Leu738Ter)
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2217A>G (p.Val739=)
NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)
NM_000492.4(CFTR):c.2225C>T (p.Ser742Phe)
NM_000492.4(CFTR):c.2226T>C (p.Ser742=) rs2116032463
NM_000492.4(CFTR):c.2229G>A (p.Glu743=)
NM_000492.4(CFTR):c.2231A>C (p.Gln744Pro)
NM_000492.4(CFTR):c.2231A>G (p.Gln744Arg)
NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter) rs397508354
NM_000492.4(CFTR):c.2235A>G (p.Gly745=)
NM_000492.4(CFTR):c.2238G>C (p.Glu746Asp)
NM_000492.4(CFTR):c.2240C>A (p.Ala747Glu)
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs) rs397508355
NM_000492.4(CFTR):c.2241del (p.Ile748fs)
NM_000492.4(CFTR):c.2248C>A (p.Pro750Thr)
NM_000492.4(CFTR):c.2249_2256del (p.Pro750fs) rs397508356
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.2259C>G (p.Ser753Arg) rs201888075
NM_000492.4(CFTR):c.2261del (p.Val754fs) rs2116032687
NM_000492.4(CFTR):c.2262G>T (p.Val754=)
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.2283T>G (p.Leu761=)
NM_000492.4(CFTR):c.2283dup (p.Gln762fs)
NM_000492.4(CFTR):c.2286G>A (p.Gln762=)
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr) rs2116032836
NM_000492.4(CFTR):c.2287G>T (p.Ala763Ser)
NM_000492.4(CFTR):c.2288C>G (p.Ala763Gly)
NM_000492.4(CFTR):c.2289A>G (p.Ala763=) rs1792046083
NM_000492.4(CFTR):c.228T>C (p.Cys76=) rs777536750
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp) rs777536750
NM_000492.4(CFTR):c.2290C>A (p.Arg764=)
NM_000492.4(CFTR):c.2291del (p.Arg764fs) rs387906376
NM_000492.4(CFTR):c.2293A>G (p.Arg765Gly)
NM_000492.4(CFTR):c.2294G>A (p.Arg765Lys)
NM_000492.4(CFTR):c.2295G>A (p.Arg765=)
NM_000492.4(CFTR):c.2297G>C (p.Arg766Thr)
NM_000492.4(CFTR):c.2297G>T (p.Arg766Met) rs397508363
NM_000492.4(CFTR):c.2299C>T (p.Gln767Ter) rs1584812646
NM_000492.4(CFTR):c.2301G>A (p.Gln767=) rs1386366130
NM_000492.4(CFTR):c.2301del (p.Gln767fs) rs2116032944
NM_000492.4(CFTR):c.2307C>G (p.Val769=) rs1241371944
NM_000492.4(CFTR):c.2310G>T (p.Leu770=)
NM_000492.4(CFTR):c.2312A>G (p.Asn771Ser)
NM_000492.4(CFTR):c.2313C>T (p.Asn771=) rs768301278
NM_000492.4(CFTR):c.231T>C (p.Phe77=) rs2116641592
NM_000492.4(CFTR):c.2321C>G (p.Thr774Arg)
NM_000492.4(CFTR):c.2322A>G (p.Thr774=)
NM_000492.4(CFTR):c.2324_2325del (p.His775fs) rs397508364
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter) rs397508365
NM_000492.4(CFTR):c.2328A>G (p.Ser776=) rs2116033048
NM_000492.4(CFTR):c.2335C>T (p.Gln779Ter) rs2116033063
NM_000492.4(CFTR):c.2335del (p.Gln779fs)
NM_000492.4(CFTR):c.2337del (p.Gly780fs)
NM_000492.4(CFTR):c.233del (p.Phe78fs) rs397508360
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2341C>G (p.Gln781Glu)
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter) rs397508368
NM_000492.4(CFTR):c.2342A>G (p.Gln781Arg)
NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys) rs397508369
NM_000492.4(CFTR):c.2346C>T (p.Asn782=)
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
NM_000492.4(CFTR):c.2348T>G (p.Ile783Ser)
NM_000492.4(CFTR):c.234C>T (p.Phe78=)
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.236G>A (p.Trp79Ter) rs397508371
NM_000492.4(CFTR):c.2373A>C (p.Thr791=)
NM_000492.4(CFTR):c.2373del (p.Arg792fs) rs1584812696
NM_000492.4(CFTR):c.2374C>A (p.Arg792=)
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.2379A>T (p.Lys793Asn)
NM_000492.4(CFTR):c.2379del (p.Val794fs)
NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)
NM_000492.4(CFTR):c.2381T>A (p.Val794Glu)
NM_000492.4(CFTR):c.2382_2383del (p.Ser795fs)
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.2393dup (p.Gln799fs) rs397508372
NM_000492.4(CFTR):c.2395C>A (p.Gln799Lys)
NM_000492.4(CFTR):c.2395C>T (p.Gln799Ter) rs984281283
NM_000492.4(CFTR):c.2397G>A (p.Gln799=)
NM_000492.4(CFTR):c.2399C>A (p.Ala800Glu)
NM_000492.4(CFTR):c.2399C>G (p.Ala800Gly) rs397508373
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.2410G>T (p.Glu804Ter) rs1792049376
NM_000492.4(CFTR):c.2411A>T (p.Glu804Val) rs397508374
NM_000492.4(CFTR):c.2413C>T (p.Leu805=) rs2116033549
NM_000492.4(CFTR):c.2415G>C (p.Leu805=)
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.2421A>C (p.Ile807=)
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs) rs387906359
NM_000492.4(CFTR):c.2426C>A (p.Ser809Ter) rs1457971953
NM_000492.4(CFTR):c.2426C>T (p.Ser809Leu)
NM_000492.4(CFTR):c.2427A>T (p.Ser809=)
NM_000492.4(CFTR):c.2427AAG[1] (p.Arg811del) rs1554389478
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter) rs377447726
NM_000492.4(CFTR):c.2429del (p.Arg810fs) rs1057516236
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.2434T>C (p.Leu812=)
NM_000492.4(CFTR):c.2435dup (p.Leu812fs) rs397508376
NM_000492.4(CFTR):c.2436A>G (p.Leu812=)
NM_000492.4(CFTR):c.2438del (p.Ser813fs)
NM_000492.4(CFTR):c.2439T>C (p.Ser813=) rs2116033726
NM_000492.4(CFTR):c.243T>G (p.Phe81Leu)
NM_000492.4(CFTR):c.243del (p.Phe81fs) rs1562884046
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter) rs397508377
NM_000492.4(CFTR):c.2443G>T (p.Glu815Ter) rs672601316
NM_000492.4(CFTR):c.2443del (p.Glu815fs) rs1584812777
NM_000492.4(CFTR):c.2446A>C (p.Thr816Pro)
NM_000492.4(CFTR):c.244A>G (p.Met82Val) rs1554376431
NM_000492.4(CFTR):c.2450del (p.Gly817fs) rs1584812778
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
NM_000492.4(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.4(CFTR):c.2454G>A (p.Leu818=)
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter) rs1792051187
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.2463_2464del (p.Ser821fs) rs797045156
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys) rs397508378
NM_000492.4(CFTR):c.2470A>G (p.Ile824Val)
NM_000492.4(CFTR):c.2472T>A (p.Ile824=)
NM_000492.4(CFTR):c.2472T>C (p.Ile824=)
NM_000492.4(CFTR):c.2472T>G (p.Ile824Met)
NM_000492.4(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.4(CFTR):c.2474A>G (p.Asn825Ser) rs1398481391
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter) rs397508381
NM_000492.4(CFTR):c.2478AGA[1] (p.Glu827del) rs2116034014
NM_000492.4(CFTR):c.2479G>T (p.Glu827Ter) rs121909018
NM_000492.4(CFTR):c.2483A>G (p.Asp828Gly)
NM_000492.4(CFTR):c.2483dup (p.Asp828fs) rs1057517276
NM_000492.4(CFTR):c.2484C>T (p.Asp828=)
NM_000492.4(CFTR):c.2486T>A (p.Leu829Ter)
NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter) rs397508382
NM_000492.4(CFTR):c.2490+1083C>T
NM_000492.4(CFTR):c.2490+11A>G rs1482271794
NM_000492.4(CFTR):c.2490+14G>A rs573016418
NM_000492.4(CFTR):c.2490+18G>T
NM_000492.4(CFTR):c.2490+19G>A
NM_000492.4(CFTR):c.2490+19G>C rs368353825
NM_000492.4(CFTR):c.2490+19G>T
NM_000492.4(CFTR):c.2490+1G>A rs141158996
NM_000492.4(CFTR):c.2490+1G>T rs141158996
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+6del rs2116034194
NM_000492.4(CFTR):c.2490+7A>G rs751864459
NM_000492.4(CFTR):c.2490+827_2620-3551del
NM_000492.4(CFTR):c.2490+8T>C
NM_000492.4(CFTR):c.2490G>A (p.Lys830=)
NM_000492.4(CFTR):c.2491-10T>C
NM_000492.4(CFTR):c.2491-11C>A
NM_000492.4(CFTR):c.2491-18C>T
NM_000492.4(CFTR):c.2491-19C>A
NM_000492.4(CFTR):c.2491-2A>C rs397508386
NM_000492.4(CFTR):c.2491-5T>C
NM_000492.4(CFTR):c.2491-7T>A
NM_000492.4(CFTR):c.2492_2619+1del rs1562908889
NM_000492.4(CFTR):c.2493G>A (p.Glu831=)
NM_000492.4(CFTR):c.2496C>A (p.Cys832Ter) rs397508388
NM_000492.4(CFTR):c.2496C>T (p.Cys832=) rs397508388
NM_000492.4(CFTR):c.249C>G (p.Phe83Leu)
NM_000492.4(CFTR):c.24G>A (p.Lys8=) rs1800071
NM_000492.4(CFTR):c.2502del (p.Phe834fs) rs397508389
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter) rs397508389
NM_000492.4(CFTR):c.2503G>A (p.Asp835Asn) rs2116039305
NM_000492.4(CFTR):c.2503G>T (p.Asp835Tyr)
NM_000492.4(CFTR):c.2508T>C (p.Asp836=)
NM_000492.4(CFTR):c.2508del (p.Asp836fs) rs397508391
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.2522C>G (p.Pro841Arg) rs397508392
NM_000492.4(CFTR):c.2528T>A (p.Val843Glu)
NM_000492.4(CFTR):c.2529G>A (p.Val843=)
NM_000492.4(CFTR):c.2529G>T (p.Val843=)
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile) rs1792097477
NM_000492.4(CFTR):c.2532T>G (p.Thr844=)
NM_000492.4(CFTR):c.2533A>C (p.Thr845Pro)
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter) rs1584776437
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.2547C>A (p.Tyr849Ter) rs397508394
NM_000492.4(CFTR):c.2547C>T (p.Tyr849=) rs397508394
NM_000492.4(CFTR):c.2549T>G (p.Leu850Arg)
NM_000492.4(CFTR):c.254G>T (p.Gly85Val) rs75961395
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2555del (p.Tyr852fs)
NM_000492.4(CFTR):c.2556T>C (p.Tyr852=)
NM_000492.4(CFTR):c.2556T>G (p.Tyr852Ter) rs1584813819
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.4(CFTR):c.255A>G (p.Gly85=)
NM_000492.4(CFTR):c.2560dup (p.Thr854fs) rs2116039575
NM_000492.4(CFTR):c.2561C>T (p.Thr854Ile)
NM_000492.4(CFTR):c.2562T>A (p.Thr854=)
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.2565C>G (p.Val855=) rs1233428222
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.2571G>A (p.Lys857=) rs397508398
NM_000492.4(CFTR):c.2573G>A (p.Ser858Asn) rs2116039677
NM_000492.4(CFTR):c.2573del (p.Ser858fs) rs1562908997
NM_000492.4(CFTR):c.2574C>T (p.Ser858=) rs2116039690
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.2583del (p.Phe861fs) rs397508399
NM_000492.4(CFTR):c.2584G>A (p.Val862Met)
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
NM_000492.4(CFTR):c.2589A>G (p.Leu863=)
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.4(CFTR):c.258C>T (p.Ile86=)
NM_000492.4(CFTR):c.2592_2593del (p.Ile864fs) rs397508401
NM_000492.4(CFTR):c.2596T>C (p.Cys866Arg) rs397508402
NM_000492.4(CFTR):c.2598C>G (p.Cys866Trp)
NM_000492.4(CFTR):c.259T>A (p.Phe87Ile) rs397508403
NM_000492.4(CFTR):c.259T>C (p.Phe87Leu) rs397508403
NM_000492.4(CFTR):c.25dup (p.Ala9fs) rs1584764596
NM_000492.4(CFTR):c.2600T>A (p.Leu867Ter) rs397508404
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter) rs397508404
NM_000492.4(CFTR):c.2601dup (p.Val868fs) rs397508405
NM_000492.4(CFTR):c.2605A>G (p.Ile869Val)
NM_000492.4(CFTR):c.2605del (p.Ile869fs)
NM_000492.4(CFTR):c.2605dup (p.Ile869fs)
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.2617G>T (p.Glu873Ter) rs1792100143
NM_000492.4(CFTR):c.2619+11T>G
NM_000492.4(CFTR):c.2619+12C>G
NM_000492.4(CFTR):c.2619+13T>C
NM_000492.4(CFTR):c.2619+14A>G
NM_000492.4(CFTR):c.2619+16T>C
NM_000492.4(CFTR):c.2619+19A>G
NM_000492.4(CFTR):c.2619+20_2619+24del
NM_000492.4(CFTR):c.2619+2T>A rs397508407
NM_000492.4(CFTR):c.2619+2T>C
NM_000492.4(CFTR):c.2619+3A>G rs397508408
NM_000492.4(CFTR):c.2619+7A>C rs2116039906
NM_000492.4(CFTR):c.2619+7A>G rs2116039906
NM_000492.4(CFTR):c.2619+86_2619+87del rs4148712
NM_000492.4(CFTR):c.2619+8T>C
NM_000492.4(CFTR):c.2619+8T>G
NM_000492.4(CFTR):c.2619G>A (p.Glu873=) rs397508409
NM_000492.4(CFTR):c.2620-11T>C
NM_000492.4(CFTR):c.2620-12G>A
NM_000492.4(CFTR):c.2620-12G>T
NM_000492.4(CFTR):c.2620-14T>C
NM_000492.4(CFTR):c.2620-15C>T rs139379077
NM_000492.4(CFTR):c.2620-18T>C
NM_000492.4(CFTR):c.2620-19G>A
NM_000492.4(CFTR):c.2620-1G>T rs397508410
NM_000492.4(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.4(CFTR):c.2620-2A>G rs1554390859
NM_000492.4(CFTR):c.2620-4C>A rs1180219519
NM_000492.4(CFTR):c.2620-674_3367+232del
NM_000492.4(CFTR):c.2620-7A>G rs1335322650
NM_000492.4(CFTR):c.2620-80G>A
NM_000492.4(CFTR):c.2620-80G>T
NM_000492.4(CFTR):c.2620-81T>G
NM_000492.4(CFTR):c.2620-82G>T
NM_000492.4(CFTR):c.2620-8C>T
NM_000492.4(CFTR):c.2620-9C>G rs1239102386
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.2628T>C (p.Ala876=) rs2116059284
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2632T>C (p.Leu878=) rs2116059306
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.2637T>C (p.Val879=)
NM_000492.4(CFTR):c.2637_2644del (p.Val880fs)
NM_000492.4(CFTR):c.2639_2640dup (p.Leu881fs) rs1584817344
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.263T>C (p.Leu88Ser) rs397508412
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2641C>T (p.Leu881=) rs2116059368
NM_000492.4(CFTR):c.2642T>C (p.Leu881Pro)
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter) rs397508413
NM_000492.4(CFTR):c.2646G>A (p.Trp882Ter) rs1792246412
NM_000492.4(CFTR):c.264A>G (p.Leu88=)
NM_000492.4(CFTR):c.264_268del (p.Leu88fs)
NM_000492.4(CFTR):c.2657+11C>T
NM_000492.4(CFTR):c.2657+12A>G rs1792246845
NM_000492.4(CFTR):c.2657+16C>T
NM_000492.4(CFTR):c.2657+17C>T rs368543375
NM_000492.4(CFTR):c.2657+19A>G
NM_000492.4(CFTR):c.2657+3G>C
NM_000492.4(CFTR):c.2657+3G>T
NM_000492.4(CFTR):c.2657+7A>T rs750080974
NM_000492.4(CFTR):c.2658-12T>G
NM_000492.4(CFTR):c.2658-13A>G
NM_000492.4(CFTR):c.2658-16C>T
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.2658-1G>T rs397508416
NM_000492.4(CFTR):c.2658-2A>G rs1554390958
NM_000492.4(CFTR):c.2658-4A>G rs2116061003
NM_000492.4(CFTR):c.2658-5T>C
NM_000492.4(CFTR):c.2658-6T>C rs2116060994
NM_000492.4(CFTR):c.2658-8C>T rs2116060987
NM_000492.4(CFTR):c.2663C>A (p.Pro888His)
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.4(CFTR):c.2673C>T (p.Asp891=)
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.2689C>T (p.His897Tyr)
NM_000492.4(CFTR):c.2692A>G (p.Ser898Gly)
NM_000492.4(CFTR):c.2694T>C (p.Ser898=) rs2116061252
NM_000492.4(CFTR):c.2695A>G (p.Arg899Gly)
NM_000492.4(CFTR):c.2697A>G (p.Arg899=) rs2116061262
NM_000492.4(CFTR):c.269T>A (p.Leu90Ter) rs397508421
NM_000492.4(CFTR):c.269T>C (p.Leu90Ser) rs397508421
NM_000492.4(CFTR):c.2700T>A (p.Asn900Lys) rs672601315
NM_000492.4(CFTR):c.2700T>C (p.Asn900=)
NM_000492.4(CFTR):c.2702A>T (p.Asn901Ile)
NM_000492.4(CFTR):c.2705G>C (p.Ser902Thr) rs2116061306
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.2706C>T (p.Ser902=)
NM_000492.4(CFTR):c.270del (p.Glu92fs)
NM_000492.4(CFTR):c.2715G>A (p.Val905=)
NM_000492.4(CFTR):c.2717T>A (p.Ile906Asn)
NM_000492.4(CFTR):c.2719A>G (p.Ile907Val) rs397508423
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg) rs121908750
NM_000492.4(CFTR):c.2720T>A (p.Ile907Asn)
NM_000492.4(CFTR):c.2724C>T (p.Thr908=)
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
NM_000492.4(CFTR):c.2729C>G (p.Thr910Ser)
NM_000492.4(CFTR):c.273+10019C>T
NM_000492.4(CFTR):c.273+10T>G
NM_000492.4(CFTR):c.273+11C>T
NM_000492.4(CFTR):c.273+13T>C
NM_000492.4(CFTR):c.273+14T>C
NM_000492.4(CFTR):c.273+16G>T
NM_000492.4(CFTR):c.273+19C>A
NM_000492.4(CFTR):c.273+2T>C
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.273+46T>G rs1227927169
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.2730C>A (p.Thr910=) rs2116061425
NM_000492.4(CFTR):c.2730C>G (p.Thr910=)
NM_000492.4(CFTR):c.2730C>T (p.Thr910=)
NM_000492.4(CFTR):c.2733T>C (p.Ser911=)
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr) rs1554390984
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.2736G>C (p.Ser912=) rs200901072
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.2739T>C (p.Tyr913=) rs149790377
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)
NM_000492.4(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.4(CFTR):c.274-10C>G rs397508425
NM_000492.4(CFTR):c.274-10C>T
NM_000492.4(CFTR):c.274-12C>T
NM_000492.4(CFTR):c.274-1407T>G
NM_000492.4(CFTR):c.274-16T>C
NM_000492.4(CFTR):c.274-18G>A
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.274-1G>T rs121908792
NM_000492.4(CFTR):c.274-2A>C rs397508426
NM_000492.4(CFTR):c.274-2A>G rs397508426
NM_000492.4(CFTR):c.274-3397_489+710del
NM_000492.4(CFTR):c.274-3T>C rs1554379763
NM_000492.4(CFTR):c.274-5T>A rs1454461758
NM_000492.4(CFTR):c.274-5_274-2del rs1584784850
NM_000492.4(CFTR):c.274-7526T>A
NM_000492.4(CFTR):c.274-7T>C
NM_000492.4(CFTR):c.274-8043A>G
NM_000492.4(CFTR):c.274-8558G>A rs1798697575
NM_000492.4(CFTR):c.274-8984C>T
NM_000492.4(CFTR):c.274-9C>A
NM_000492.4(CFTR):c.274-9C>G rs575711764
NM_000492.4(CFTR):c.274-9C>T
NM_000492.4(CFTR):c.2742T>G (p.Tyr914Ter)
NM_000492.4(CFTR):c.2743_2745delinsA (p.Val915fs)
NM_000492.4(CFTR):c.2745G>A (p.Val915=)
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.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.2754T>G (p.Ile918Met) rs397508429
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn) rs1033530699
NM_000492.4(CFTR):c.2755del (p.Tyr919fs)
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.4(CFTR):c.2758G>C (p.Val920Leu)
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.275_489+1del rs1562889180
NM_000492.4(CFTR):c.275_579+1del
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.2763_2764dup (p.Val922fs) rs397508431
NM_000492.4(CFTR):c.2764G>A (p.Val922Ile) rs1792259336
NM_000492.4(CFTR):c.2764G>C (p.Val922Leu)
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp) rs193922509
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.2772C>T (p.Asp924=) rs1562911610
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.2776_2777del (p.Leu926fs) rs397508433
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser) rs757410423
NM_000492.4(CFTR):c.2777del (p.Leu926fs) rs397508433
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2787G>A (p.Met929Ile)
NM_000492.4(CFTR):c.278T>A (p.Val93Asp)
NM_000492.4(CFTR):c.2790A>C (p.Gly930=)
NM_000492.4(CFTR):c.2790A>G (p.Gly930=)
NM_000492.4(CFTR):c.2793C>T (p.Phe931=)
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser) rs397508437
NM_000492.4(CFTR):c.279C>T (p.Val93=)
NM_000492.4(CFTR):c.2802T>C (p.Gly934=)
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.2811G>T (p.Leu937=)
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.2812dup (p.Val938fs) rs1562911661
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2817T>C (p.His939=) rs770410806
NM_000492.4(CFTR):c.2818_2831del (p.Thr940fs)
NM_000492.4(CFTR):c.2818dup (p.Thr940fs)
NM_000492.4(CFTR):c.2819C>T (p.Thr940Ile)
NM_000492.4(CFTR):c.2820T>C (p.Thr940=) rs60887846
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2824del (p.Ile942fs)
NM_000492.4(CFTR):c.2825del (p.Ile942fs) rs397508441
NM_000492.4(CFTR):c.2826C>T (p.Ile942=)
NM_000492.4(CFTR):c.282C>G (p.Thr94=)
NM_000492.4(CFTR):c.2830G>C (p.Val944Leu)
NM_000492.4(CFTR):c.2832G>T (p.Val944=)
NM_000492.4(CFTR):c.2835G>T (p.Ser945=) rs193922513
NM_000492.4(CFTR):c.2836A>C (p.Lys946Gln)
NM_000492.4(CFTR):c.2838A>G (p.Lys946=) rs2116062142
NM_000492.4(CFTR):c.283A>T (p.Lys95Ter)
NM_000492.4(CFTR):c.2840T>C (p.Ile947Thr)
NM_000492.4(CFTR):c.2842T>C (p.Leu948=) rs2116062157
NM_000492.4(CFTR):c.2844A>C (p.Leu948Phe)
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr) rs121909035
NM_000492.4(CFTR):c.2846A>G (p.His949Arg) rs397508444
NM_000492.4(CFTR):c.2848C>T (p.His950Tyr)
NM_000492.4(CFTR):c.2848del (p.His950fs) rs2116062196
NM_000492.4(CFTR):c.284A>G (p.Lys95Arg)
NM_000492.4(CFTR):c.2850C>T (p.His950=)
NM_000492.4(CFTR):c.2851A>G (p.Lys951Glu)
NM_000492.4(CFTR):c.2854A>G (p.Met952Val)
NM_000492.4(CFTR):c.2854del (p.Met952fs) rs1057517032
NM_000492.4(CFTR):c.2855T>G (p.Met952Arg)
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2856G>T (p.Met952Ile)
NM_000492.4(CFTR):c.2859A>G (p.Leu953=)
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp)
NM_000492.4(CFTR):c.285A>G (p.Lys95=) rs1584784870
NM_000492.4(CFTR):c.2861A>C (p.His954Pro) rs397508446
NM_000492.4(CFTR):c.2861A>G (p.His954Arg)
NM_000492.4(CFTR):c.2863T>G (p.Ser955Ala) rs1584817978
NM_000492.4(CFTR):c.2872C>T (p.Gln958Ter) rs2116062284
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs) rs1562911739
NM_000492.4(CFTR):c.287C>A (p.Ala96Glu) rs397508449
NM_000492.4(CFTR):c.2880T>C (p.Pro960=)
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
NM_000492.4(CFTR):c.2885C>A (p.Ser962Ter)
NM_000492.4(CFTR):c.2889C>T (p.Thr963=)
NM_000492.4(CFTR):c.288A>C (p.Ala96=)
NM_000492.4(CFTR):c.288A>G (p.Ala96=) rs2116669907
NM_000492.4(CFTR):c.288_296del (p.Val97_Pro99del)
NM_000492.4(CFTR):c.2890C>T (p.Leu964Phe)
NM_000492.4(CFTR):c.2891_2892delinsA (p.Leu964fs)
NM_000492.4(CFTR):c.2894A>G (p.Asn965Ser)
NM_000492.4(CFTR):c.2895C>T (p.Asn965=)
NM_000492.4(CFTR):c.2896del (p.Thr966fs) rs397508451
NM_000492.4(CFTR):c.2899T>C (p.Leu967=) rs1554391080
NM_000492.4(CFTR):c.2901G>A (p.Leu967=)
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+1085_3367+260del
NM_000492.4(CFTR):c.2908+10T>C rs2116062549
NM_000492.4(CFTR):c.2908+13del
NM_000492.4(CFTR):c.2908+14T>G rs2116062569
NM_000492.4(CFTR):c.2908+14_2908+21dup
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2908+20A>G
NM_000492.4(CFTR):c.2908+3A>C rs1554391091
NM_000492.4(CFTR):c.2908+3_2908+14del
NM_000492.4(CFTR):c.2908+8A>G rs1792264028
NM_000492.4(CFTR):c.2908+8A>T rs1792264028
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg) rs397508453
NM_000492.4(CFTR):c.2909-10T>C
NM_000492.4(CFTR):c.2909-11G>A
NM_000492.4(CFTR):c.2909-12del rs2116069177
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2909-19G>C
NM_000492.4(CFTR):c.2909-1G>C rs397508456
NM_000492.4(CFTR):c.2909-2A>T
NM_000492.4(CFTR):c.2909-4A>G rs397508457
NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
NM_000492.4(CFTR):c.2909-7A>T rs1792304646
NM_000492.4(CFTR):c.2909-8_2909-7insTAAT rs1554391448
NM_000492.4(CFTR):c.2911_3367+2del
NM_000492.4(CFTR):c.2913G>C (p.Gly971=)
NM_000492.4(CFTR):c.2916T>C (p.Ile972=)
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.4(CFTR):c.2916_2952del (p.Ile972fs) rs1554391454
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro) rs397508460
NM_000492.4(CFTR):c.2919T>A (p.Leu973=) rs1453045670
NM_000492.4(CFTR):c.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
NM_000492.4(CFTR):c.291A>G (p.Val97=)
NM_000492.4(CFTR):c.2922T>C (p.Asn974=)
NM_000492.4(CFTR):c.2924_2925del (p.Arg975fs) rs1584819340
NM_000492.4(CFTR):c.2925A>G (p.Arg975=)
NM_000492.4(CFTR):c.2928C>A (p.Phe976Leu)
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2933A>G (p.Lys978Arg)
NM_000492.4(CFTR):c.2934A>G (p.Lys978=) rs2116069501
NM_000492.4(CFTR):c.2935G>T (p.Asp979Tyr)
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.4(CFTR):c.2937T>C (p.Asp979=) rs1792305947
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val) rs1554391473
NM_000492.4(CFTR):c.293A>C (p.Gln98Pro) rs397508464
NM_000492.4(CFTR):c.2942C>A (p.Ala981Glu)
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn) rs764644021
NM_000492.4(CFTR):c.2951A>T (p.Asp984Val)
NM_000492.4(CFTR):c.2955C>T (p.Asp985=)
NM_000492.4(CFTR):c.2956del (p.Leu986fs) rs2116069671
NM_000492.4(CFTR):c.2958del (p.Leu987fs)
NM_000492.4(CFTR):c.2959_2960dup (p.Pro988fs) rs2116069700
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala) rs1031657153
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu) rs1792306616
NM_000492.4(CFTR):c.296C>G (p.Pro99Arg)
NM_000492.4(CFTR):c.2970C>T (p.Thr990=)
NM_000492.4(CFTR):c.2974T>C (p.Phe992Leu) rs1043006335
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu) rs758250836
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
NM_000492.4(CFTR):c.2979C>T (p.Asp993=) rs2116069838
NM_000492.4(CFTR):c.297T>G (p.Pro99=) rs2116669955
NM_000492.4(CFTR):c.2982C>T (p.Phe994=)
NM_000492.4(CFTR):c.2982_2988+2del rs1554391489
NM_000492.4(CFTR):c.2986dup (p.Gln996fs) rs1554391491
NM_000492.4(CFTR):c.2988+10A>C rs2116069977
NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
NM_000492.4(CFTR):c.2988+16T>A
NM_000492.4(CFTR):c.2988+19C>T
NM_000492.4(CFTR):c.2988+1G>C rs75096551
NM_000492.4(CFTR):c.2988+1G>T rs75096551
NM_000492.4(CFTR):c.2988+20G>T
NM_000492.4(CFTR):c.2988+2T>C rs1792307406
NM_000492.4(CFTR):c.2988+33G>T
NM_000492.4(CFTR):c.2988+9A>T
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.2989-2A>T rs193922515
NM_000492.4(CFTR):c.2989-313A>T rs1584821306
NM_000492.4(CFTR):c.2989-3C>G rs397508471
NM_000492.4(CFTR):c.2989-3C>T
NM_000492.4(CFTR):c.2989-6T>C
NM_000492.4(CFTR):c.2989-81del rs4148715
NM_000492.4(CFTR):c.2989-908_3085delinsGACAG
NM_000492.4(CFTR):c.2989-977_3367+248del
NM_000492.4(CFTR):c.298C>T (p.Leu100Phe)
NM_000492.4(CFTR):c.2991G>A (p.Leu997=) rs1800111
NM_000492.4(CFTR):c.2991_2993del
NM_000492.4(CFTR):c.2992T>A (p.Leu998Ile) rs2116080345
NM_000492.4(CFTR):c.2993del (p.Leu998fs) rs1057516415
NM_000492.4(CFTR):c.2994A>C (p.Leu998Phe)
NM_000492.4(CFTR):c.2994A>T (p.Leu998Phe)
NM_000492.4(CFTR):c.2994del (p.Leu998fs) rs749963273
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.2998_3019del (p.Ile1000fs) rs397508474
NM_000492.4(CFTR):c.2998del (p.Ile1000fs) rs397508475
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.2T>A (p.Met1Lys) rs397508476
NM_000492.4(CFTR):c.2T>G (p.Met1Arg) rs397508476
NM_000492.4(CFTR):c.3000T>C (p.Ile1000=)
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met) rs193922731
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) rs397508477
NM_000492.4(CFTR):c.3003G>A (p.Val1001=)
NM_000492.4(CFTR):c.3003G>T (p.Val1001=) rs1377312539
NM_000492.4(CFTR):c.3005T>C (p.Ile1002Thr)
NM_000492.4(CFTR):c.3006T>A (p.Ile1002=)
NM_000492.4(CFTR):c.3007G>T (p.Gly1003Ter) rs397508478
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu) rs55803548
NM_000492.4(CFTR):c.3009A>C (p.Gly1003=)
NM_000492.4(CFTR):c.300C>T (p.Leu100=) rs1206224160
NM_000492.4(CFTR):c.300_301del (p.Leu101fs) rs2116669950
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) rs1562914072
NM_000492.4(CFTR):c.3011del (p.Ala1004fs) rs1562914082
NM_000492.4(CFTR):c.3014T>C (p.Ile1005Thr)
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs) rs1792366769
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3021del (p.Val1008fs) rs397508481
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp) rs397508483
NM_000492.4(CFTR):c.3025G>T (p.Ala1009Ser)
NM_000492.4(CFTR):c.3027A>G (p.Ala1009=)
NM_000492.4(CFTR):c.3027A>T (p.Ala1009=)
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter) rs1562914107
NM_000492.4(CFTR):c.3034C>A (p.Gln1012Lys)
NM_000492.4(CFTR):c.3035A>G (p.Gln1012Arg)
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser) rs978796108
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.303A>G (p.Leu101=)
NM_000492.4(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.4(CFTR):c.3042C>T (p.Tyr1014=)
NM_000492.4(CFTR):c.3043A>G (p.Ile1015Val)
NM_000492.4(CFTR):c.3045C>A (p.Ile1015=)
NM_000492.4(CFTR):c.3045C>T (p.Ile1015=)
NM_000492.4(CFTR):c.304C>T (p.Leu102=) rs1798849790
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro) rs397508490
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3060G>A (p.Val1020=) rs1584821629
NM_000492.4(CFTR):c.3060G>T (p.Val1020=)
NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr) rs397508491
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu) rs1554392023
NM_000492.4(CFTR):c.3063A>G (p.Pro1021=)
NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu) rs144441835
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.4(CFTR):c.3065T>C (p.Val1022Ala)
NM_000492.4(CFTR):c.3065T>G (p.Val1022Gly)
NM_000492.4(CFTR):c.3066G>A (p.Val1022=)
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg) rs756219310
NM_000492.4(CFTR):c.3068_3072del (p.Ile1023fs) rs397508493
NM_000492.4(CFTR):c.306G>T (p.Leu102=)
NM_000492.4(CFTR):c.3070G>A (p.Val1024Met)
NM_000492.4(CFTR):c.3071T>A (p.Val1024Glu)
NM_000492.4(CFTR):c.3073G>T (p.Ala1025Ser)
NM_000492.4(CFTR):c.3075T>G (p.Ala1025=) rs2116080954
NM_000492.4(CFTR):c.3076T>G (p.Phe1026Val)
NM_000492.4(CFTR):c.307G>A (p.Gly103Arg) rs1584784895
NM_000492.4(CFTR):c.307G>T (p.Gly103Ter) rs1584784895
NM_000492.4(CFTR):c.3081T>A (p.Ile1027=)
NM_000492.4(CFTR):c.3084G>T (p.Met1028Ile) rs200553511
NM_000492.4(CFTR):c.3085T>A (p.Leu1029Met)
NM_000492.4(CFTR):c.308del (p.Gly103fs)
NM_000492.4(CFTR):c.3090A>G (p.Arg1030=)
NM_000492.4(CFTR):c.3092C>G (p.Ala1031Gly)
NM_000492.4(CFTR):c.3093A>C (p.Ala1031=)
NM_000492.4(CFTR):c.3093A>G (p.Ala1031=)
NM_000492.4(CFTR):c.3093A>T (p.Ala1031=)
NM_000492.4(CFTR):c.3099C>A (p.Phe1033Leu)
NM_000492.4(CFTR):c.309A>G (p.Gly103=)
NM_000492.4(CFTR):c.30C>T (p.Ser10=) rs1369001389
NM_000492.4(CFTR):c.3100C>T (p.Leu1034Phe) rs1554392043
NM_000492.4(CFTR):c.3101T>C (p.Leu1034Pro)
NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg) rs1792369943
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.310A>G (p.Arg104Gly)
NM_000492.4(CFTR):c.310del (p.Arg104fs) rs397508499
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter) rs1562914200
NM_000492.4(CFTR):c.3114G>A (p.Gln1038=) rs2116081223
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup) rs1469768894
NM_000492.4(CFTR):c.3117A>G (p.Gln1039=)
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe) rs1562914212
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
NM_000492.4(CFTR):c.311G>C (p.Arg104Thr)
NM_000492.4(CFTR):c.3120C>T (p.Leu1040=)
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg) rs1562914220
NM_000492.4(CFTR):c.3125A>G (p.Gln1042Arg)
NM_000492.4(CFTR):c.3129G>A (p.Leu1043=)
NM_000492.4(CFTR):c.312A>G (p.Arg104=) rs2116670032
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr) rs1584821736
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe) rs1584821736
NM_000492.4(CFTR):c.3139+10T>C
NM_000492.4(CFTR):c.3139+17G>A
NM_000492.4(CFTR):c.3139+17G>T
NM_000492.4(CFTR):c.3139+1G>A rs397508503
NM_000492.4(CFTR):c.3139+1G>T rs397508503
NM_000492.4(CFTR):c.3139+1del rs780546355
NM_000492.4(CFTR):c.3139+42A>G
NM_000492.4(CFTR):c.3139+9G>T rs2116081422
NM_000492.4(CFTR):c.3139+9del rs749651092
NM_000492.4(CFTR):c.3139G>A (p.Gly1047Ser) rs397508504
NM_000492.4(CFTR):c.3139G>C (p.Gly1047Arg) 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.313del (p.Ile105fs) rs121908801
NM_000492.4(CFTR):c.3140-11A>G
NM_000492.4(CFTR):c.3140-16T>A
NM_000492.4(CFTR):c.3140-16T>C
NM_000492.4(CFTR):c.3140-17A>G rs1383455542
NM_000492.4(CFTR):c.3140-1G>A rs397508506
NM_000492.4(CFTR):c.3140-4A>G rs397508507
NM_000492.4(CFTR):c.3140-9A>G rs1792386089
NM_000492.4(CFTR):c.3141C>G (p.Gly1047=)
NM_000492.4(CFTR):c.3141_3468+1del
NM_000492.4(CFTR):c.3142A>C (p.Arg1048=)
NM_000492.4(CFTR):c.3146G>A (p.Ser1049Asn)
NM_000492.4(CFTR):c.3148C>A (p.Pro1050Thr)
NM_000492.4(CFTR):c.3148C>G (p.Pro1050Ala)
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn) rs397508509
NM_000492.4(CFTR):c.3156C>T (p.Phe1052=)
NM_000492.4(CFTR):c.3157A>T (p.Thr1053Ser) rs1792386620
NM_000492.4(CFTR):c.3159T>A (p.Thr1053=) rs1792386675
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) rs397508510
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu) rs1417435640
NM_000492.4(CFTR):c.3161del (p.His1054fs) rs387906377
NM_000492.4(CFTR):c.3162T>A (p.His1054Gln)
NM_000492.4(CFTR):c.3162T>C (p.His1054=) rs199990040
NM_000492.4(CFTR):c.3168del (p.Thr1057fs)
NM_000492.4(CFTR):c.316A>G (p.Ile106Val) rs1024092547
NM_000492.4(CFTR):c.3174C>T (p.Ser1058=) rs1792387133
NM_000492.4(CFTR):c.3175T>C (p.Leu1059=)
NM_000492.4(CFTR):c.3176T>G (p.Leu1059Ter) rs397508512
NM_000492.4(CFTR):c.3178A>G (p.Lys1060Glu) rs1244798983
NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr) rs397508513
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
NM_000492.4(CFTR):c.3180del (p.Gly1061fs)
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3183A>G (p.Gly1061=) rs2116084312
NM_000492.4(CFTR):c.3184C>T (p.Leu1062=)
NM_000492.4(CFTR):c.3184_3188dup (p.Trp1063fs) rs387906366
NM_000492.4(CFTR):c.3185T>C (p.Leu1062Pro) rs2116084329
NM_000492.4(CFTR):c.3185_3191del (p.Leu1062fs) rs2116084282
NM_000492.4(CFTR):c.3186A>G (p.Leu1062=)
NM_000492.4(CFTR):c.3186A>T (p.Leu1062=)
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter) rs1562914641
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter) rs397508514
NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065fs) rs1584822237
NM_000492.4(CFTR):c.3192A>T (p.Thr1064=)
NM_000492.4(CFTR):c.3192_3276del (p.Leu1065fs)
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro) rs121909036
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser) rs78194216
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu) rs121909019
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro) rs121909020
NM_000492.4(CFTR):c.319G>C (p.Ala107Pro) rs1562889219
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer) rs397508516
NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly) rs1800114
NM_000492.4(CFTR):c.3202T>G (p.Phe1068Val)
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro) rs78769542
NM_000492.4(CFTR):c.320C>G (p.Ala107Gly)
NM_000492.4(CFTR):c.3210G>A (p.Arg1070=) rs1792388976
NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter) rs397508517
NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro) rs121909037
NM_000492.4(CFTR):c.3213G>A (p.Gln1071=)
NM_000492.4(CFTR):c.3214C>T (p.Pro1072Ser) rs1584822281
NM_000492.4(CFTR):c.3215C>A (p.Pro1072His)
NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs) rs768963919
NM_000492.4(CFTR):c.3219C>T (p.Tyr1073=) rs1792389293
NM_000492.4(CFTR):c.321T>A (p.Ala107=) rs778204477
NM_000492.4(CFTR):c.321T>G (p.Ala107=)
NM_000492.4(CFTR):c.3226A>C (p.Thr1076Pro)
NM_000492.4(CFTR):c.3226A>G (p.Thr1076Ala)
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs) rs397508518
NM_000492.4(CFTR):c.322T>C (p.Ser108Pro)
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs) rs779177972
NM_000492.4(CFTR):c.3235C>T (p.His1079Tyr)
NM_000492.4(CFTR):c.3237C>T (p.His1079=) rs2116084700
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.3241G>C (p.Ala1081Pro) rs397508521
NM_000492.4(CFTR):c.3247A>G (p.Asn1083Asp)
NM_000492.4(CFTR):c.3249T>A (p.Asn1083Lys) rs1584822326
NM_000492.4(CFTR):c.3249T>C (p.Asn1083=)
NM_000492.4(CFTR):c.3254A>C (p.His1085Pro) rs79635528
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg) 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.3257C>T (p.Thr1086Ile) rs77958296
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro) rs771259493
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs) rs121908798
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs) rs397508524
NM_000492.4(CFTR):c.3264del (p.Trp1089fs) rs397508525
NM_000492.4(CFTR):c.3266G>T (p.Trp1089Leu)
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter) rs150020260
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer) rs121908798
NM_000492.4(CFTR):c.3270C>G (p.Phe1090Leu)
NM_000492.4(CFTR):c.3273G>A (p.Leu1091=)
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter) rs121908761
NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)
NM_000492.4(CFTR):c.3278T>C (p.Leu1093Pro) rs397508527
NM_000492.4(CFTR):c.3279G>T (p.Leu1093=)
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.327T>C (p.Tyr109=)
NM_000492.4(CFTR):c.327T>G (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.3280T>C (p.Ser1094Pro)
NM_000492.4(CFTR):c.3281C>G (p.Ser1094Ter)
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA rs1554392248
NM_000492.4(CFTR):c.3285A>G (p.Thr1095=)
NM_000492.4(CFTR):c.3286C>T (p.Leu1096=)
NM_000492.4(CFTR):c.3287del (p.Leu1096fs) rs397508529
NM_000492.4(CFTR):c.3288G>T (p.Leu1096=) rs936512397
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn) rs113993958
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.328del (p.Asp110fs) rs397508530
NM_000492.4(CFTR):c.3290G>C (p.Arg1097Pro)
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3292T>G (p.Trp1098Gly) rs397508531
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter) rs397508532
NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)
NM_000492.4(CFTR):c.3293G>T (p.Trp1098Leu)
NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter) rs397508533
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3294del (p.Trp1098fs) rs397508534
NM_000492.4(CFTR):c.3297C>T (p.Phe1099=)
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
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.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly)
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter) rs397508536
NM_000492.4(CFTR):c.3306A>C (p.Arg1102Ser)
NM_000492.4(CFTR):c.3308T>G (p.Ile1103Arg)
NM_000492.4(CFTR):c.330C>G (p.Asp110Glu)
NM_000492.4(CFTR):c.330C>T (p.Asp110=)
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter) rs397508538
NM_000492.4(CFTR):c.3314T>G (p.Met1105Arg) rs397508539
NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile) rs1792392768
NM_000492.4(CFTR):c.3315del (p.Met1105fs) rs397508540
NM_000492.4(CFTR):c.3318T>A (p.Ile1106=) rs2116085302
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu) rs1584822486
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.3322G>A (p.Val1108Ile)
NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs)
NM_000492.4(CFTR):c.3322del (p.Val1108fs) rs2116085331
NM_000492.4(CFTR):c.3324C>A (p.Val1108=) rs2116085344
NM_000492.4(CFTR):c.3324C>T (p.Val1108=) rs2116085344
NM_000492.4(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.4(CFTR):c.3326T>C (p.Ile1109Thr)
NM_000492.4(CFTR):c.3327C>T (p.Ile1109=) rs568020045
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del) rs1562914829
NM_000492.4(CFTR):c.332del (p.Pro111fs) rs2116670123
NM_000492.4(CFTR):c.3330C>T (p.Phe1110=) rs1584822500
NM_000492.4(CFTR):c.3333C>T (p.Phe1111=) rs144135742
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser) rs1792393459
NM_000492.4(CFTR):c.3340G>C (p.Val1114Leu)
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs) rs1562914838
NM_000492.4(CFTR):c.3349A>C (p.Ile1117Leu)
NM_000492.4(CFTR):c.3349A>G (p.Ile1117Val)
NM_000492.4(CFTR):c.3351_3352del (p.Ser1118fs)
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys) rs146521846
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3355A>T (p.Ile1119Phe)
NM_000492.4(CFTR):c.3357_3359delinsA (p.Leu1120fs)
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+10A>G
NM_000492.4(CFTR):c.3367+10A>T rs2116085669
NM_000492.4(CFTR):c.3367+18_3367+23del
NM_000492.4(CFTR):c.3367+19C>T
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3367+1G>T
NM_000492.4(CFTR):c.3367+2T>A rs397508544
NM_000492.4(CFTR):c.3367+3A>G rs1194763712
NM_000492.4(CFTR):c.3367+6A>G rs397508545
NM_000492.4(CFTR):c.3367+8G>A rs2116085662
NM_000492.4(CFTR):c.3367+9A>G
NM_000492.4(CFTR):c.3367G>C (p.Gly1123Arg) rs397508546
NM_000492.4(CFTR):c.3368-13del
NM_000492.4(CFTR):c.3368-14T>C
NM_000492.4(CFTR):c.3368-17C>G
NM_000492.4(CFTR):c.3368-17C>T
NM_000492.4(CFTR):c.3368-19G>A rs374104839
NM_000492.4(CFTR):c.3368-19G>C
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.3368-3T>C rs2116096154
NM_000492.4(CFTR):c.3368-4A>G rs748811222
NM_000492.4(CFTR):c.3368-581G>A
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.4(CFTR):c.3372A>G (p.Glu1124=)
NM_000492.4(CFTR):c.3374G>A (p.Gly1125Glu)
NM_000492.4(CFTR):c.3375A>C (p.Gly1125=) rs751140170
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter) rs397508549
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.3389_3402del (p.Gly1130fs)
NM_000492.4(CFTR):c.3392T>C (p.Ile1131Thr)
NM_000492.4(CFTR):c.3398_3399del (p.Leu1133fs)
NM_000492.4(CFTR):c.3399G>A (p.Leu1133=) rs1792456177
NM_000492.4(CFTR):c.3400_3401delinsGTA (p.Thr1134fs) rs397508552
NM_000492.4(CFTR):c.3401C>A (p.Thr1134Asn)
NM_000492.4(CFTR):c.3403T>C (p.Leu1135=)
NM_000492.4(CFTR):c.3404T>A (p.Leu1135Ter) rs1792456313
NM_000492.4(CFTR):c.3405A>G (p.Leu1135=)
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
NM_000492.4(CFTR):c.3408C>T (p.Ala1136=)
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs)
NM_000492.4(CFTR):c.3413A>G (p.Asn1138Ser)
NM_000492.4(CFTR):c.3418A>T (p.Met1140Leu)
NM_000492.4(CFTR):c.3419T>A (p.Met1140Lys) rs397508558
NM_000492.4(CFTR):c.3419_3421del (p.Met1140del) rs397508557
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile) rs1554392775
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs) rs397508559
NM_000492.4(CFTR):c.3423T>C (p.Ser1141=)
NM_000492.4(CFTR):c.3426A>G (p.Thr1142=) rs2116096536
NM_000492.4(CFTR):c.3427T>C (p.Leu1143=) rs768276513
NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)
NM_000492.4(CFTR):c.3428T>C (p.Leu1143Ser)
NM_000492.4(CFTR):c.342G>A (p.Lys114=)
NM_000492.4(CFTR):c.342G>C (p.Lys114Asn)
NM_000492.4(CFTR):c.342GGA[1] (p.Glu116del) rs397508563
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter) rs397508560
NM_000492.4(CFTR):c.3432G>A (p.Gln1144=)
NM_000492.4(CFTR):c.3434G>A (p.Trp1145Ter)
NM_000492.4(CFTR):c.3434G>C (p.Trp1145Ser)
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter) rs397508561
NM_000492.4(CFTR):c.3437C>T (p.Ala1146Val)
NM_000492.4(CFTR):c.3439G>A (p.Val1147Ile) rs397508562
NM_000492.4(CFTR):c.3447C>A (p.Ser1149=)
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.345G>A (p.Glu115=) rs2116670184
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.3461A>G (p.Asp1154Gly) rs397508569
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
NM_000492.4(CFTR):c.3468+11T>C
NM_000492.4(CFTR):c.3468+12C>T rs1415573737
NM_000492.4(CFTR):c.3468+13A>G
NM_000492.4(CFTR):c.3468+180A>G
NM_000492.4(CFTR):c.3468+1G>A rs1554392798
NM_000492.4(CFTR):c.3468+1G>T rs1554392798
NM_000492.4(CFTR):c.3468+2T>C rs1584824301
NM_000492.4(CFTR):c.3468+3566G>A
NM_000492.4(CFTR):c.3468+5G>A rs1554392801
NM_000492.4(CFTR):c.3468+6041A>G
NM_000492.4(CFTR):c.3468_3468+6delinsATAAAAAGCTTATAAAAAG
NM_000492.4(CFTR):c.3469-10T>C
NM_000492.4(CFTR):c.3469-11T>G
NM_000492.4(CFTR):c.3469-14T>C
NM_000492.4(CFTR):c.3469-16_3469-15del rs2116128700
NM_000492.4(CFTR):c.3469-1G>C
NM_000492.4(CFTR):c.3469-1G>T
NM_000492.4(CFTR):c.3469-2880_3717+2150del
NM_000492.4(CFTR):c.3469-2A>C
NM_000492.4(CFTR):c.3469-2A>G rs397508570
NM_000492.4(CFTR):c.3469-3146G>A
NM_000492.4(CFTR):c.3469-3C>A
NM_000492.4(CFTR):c.3469-4904G>A
NM_000492.4(CFTR):c.3469-4del
NM_000492.4(CFTR):c.3469-52_3717+5032dup
NM_000492.4(CFTR):c.3469-5T>C
NM_000492.4(CFTR):c.3469-7A>G
NM_000492.4(CFTR):c.3469-9T>G
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.346G>C (p.Glu116Gln) rs397508571
NM_000492.4(CFTR):c.3471G>A (p.Met1157Ile)
NM_000492.4(CFTR):c.3472C>A (p.Arg1158=) rs79850223
NM_000492.4(CFTR):c.3474A>T (p.Arg1158=) rs2116128804
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.3480G>A (p.Val1160=) rs1298788637
NM_000492.4(CFTR):c.3481A>C (p.Ser1161Arg) rs397508574
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.3486_3487del (p.Val1163fs) rs397508575
NM_000492.4(CFTR):c.3487G>A (p.Val1163Ile)
NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter) rs387906379
NM_000492.4(CFTR):c.3493_3494delinsT (p.Lys1165fs)
NM_000492.4(CFTR):c.3494A>C (p.Lys1165Thr) rs753508195
NM_000492.4(CFTR):c.3495del (p.Lys1165fs) rs1057516970
NM_000492.4(CFTR):c.3497T>G (p.Phe1166Cys) rs397508577
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.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn) rs2116129005
NM_000492.4(CFTR):c.3504C>T (p.Asp1168=)
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>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3513A>C (p.Thr1171=)
NM_000492.4(CFTR):c.3514G>C (p.Glu1172Gln)
NM_000492.4(CFTR):c.3518G>A (p.Gly1173Asp)
NM_000492.4(CFTR):c.351C>T (p.Arg117=) rs2116670233
NM_000492.4(CFTR):c.3523C>T (p.Pro1175Ser)
NM_000492.4(CFTR):c.3524C>T (p.Pro1175Leu)
NM_000492.4(CFTR):c.3525_3537del (p.Thr1176fs)
NM_000492.4(CFTR):c.3527C>G (p.Thr1176Ser)
NM_000492.4(CFTR):c.3528C>T (p.Thr1176=)
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3529A>G (p.Lys1177Glu) rs397508578
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter) rs397508578
NM_000492.4(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.4(CFTR):c.3531G>A (p.Lys1177=)
NM_000492.4(CFTR):c.3532T>A (p.Ser1178Thr)
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
NM_000492.4(CFTR):c.3533C>A (p.Ser1178Ter) rs1057516609
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
NM_000492.4(CFTR):c.3539_3554del (p.Lys1180fs)
NM_000492.4(CFTR):c.3540del (p.Lys1180fs) rs397508580
NM_000492.4(CFTR):c.3543A>G (p.Pro1181=)
NM_000492.4(CFTR):c.3544T>C (p.Tyr1182His) rs770167300
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter) rs397508581
NM_000492.4(CFTR):c.3546C>T (p.Tyr1182=) rs397508581
NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer) rs1792671655
NM_000492.4(CFTR):c.3547A>T (p.Lys1183Ter)
NM_000492.4(CFTR):c.354T>A (p.Ser118=)
NM_000492.4(CFTR):c.354T>C (p.Ser118=) rs2116670246
NM_000492.4(CFTR):c.354dup (p.Ile119fs)
NM_000492.4(CFTR):c.3552T>C (p.Asn1184=)
NM_000492.4(CFTR):c.3555C>A (p.Gly1185=)
NM_000492.4(CFTR):c.3555C>T (p.Gly1185=) rs2116129370
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter) rs397508582
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.3567A>G (p.Lys1189=)
NM_000492.4(CFTR):c.3567dup (p.Val1190fs)
NM_000492.4(CFTR):c.3568G>A (p.Val1190Ile)
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.4(CFTR):c.356T>A (p.Ile119Asn)
NM_000492.4(CFTR):c.356T>G (p.Ile119Ser)
NM_000492.4(CFTR):c.3571dup (p.Met1191fs)
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.357C>A (p.Ile119=) rs1264742569
NM_000492.4(CFTR):c.3585T>A (p.Asn1195Lys)
NM_000492.4(CFTR):c.3587C>A (p.Ser1196Ter) rs121908763
NM_000492.4(CFTR):c.3588A>G (p.Ser1196=)
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.3592del (p.His1197_Val1198insTer) rs397508585
NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln)
NM_000492.4(CFTR):c.3598_3599delinsG (p.Lys1200fs) rs1584830149
NM_000492.4(CFTR):c.3599_3600delinsG (p.Lys1200fs) rs1584830154
NM_000492.4(CFTR):c.359C>T (p.Ala120Val) rs1265244783
NM_000492.4(CFTR):c.3600A>G (p.Lys1200=) rs397508586
NM_000492.4(CFTR):c.3600A>T (p.Lys1200Asn)
NM_000492.4(CFTR):c.3600del (p.Asp1201fs) rs2116129596
NM_000492.4(CFTR):c.3602del (p.Asp1201fs)
NM_000492.4(CFTR):c.3605A>G (p.Asp1202Gly)
NM_000492.4(CFTR):c.3605del (p.Asp1202fs) rs397508587
NM_000492.4(CFTR):c.3606C>T (p.Asp1202=) rs2116129667
NM_000492.4(CFTR):c.3609C>T (p.Ile1203=)
NM_000492.4(CFTR):c.360G>C (p.Ala120=)
NM_000492.4(CFTR):c.360G>T (p.Ala120=)
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter) rs121908764
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.3615C>G (p.Pro1205=)
NM_000492.4(CFTR):c.3615C>T (p.Pro1205=)
NM_000492.4(CFTR):c.3617C>A (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.3618A>T (p.Ser1206=)
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs) rs397508589
NM_000492.4(CFTR):c.361A>G (p.Ile121Val) rs574654063
NM_000492.4(CFTR):c.3621G>A (p.Gly1207=)
NM_000492.4(CFTR):c.3621G>T (p.Gly1207=)
NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)
NM_000492.4(CFTR):c.3623G>C (p.Gly1208Ala)
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.4(CFTR):c.3623dup (p.Gln1209fs)
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu) rs151264397
NM_000492.4(CFTR):c.3628A>T (p.Met1210Leu)
NM_000492.4(CFTR):c.3636C>G (p.Val1212=)
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.3648A>T (p.Thr1216=)
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn) rs397508592
NM_000492.4(CFTR):c.364T>C (p.Tyr122His) rs397508592
NM_000492.4(CFTR):c.3657C>T (p.Tyr1219=) rs2116129887
NM_000492.4(CFTR):c.3661_3662del (p.Glu1221fs)
NM_000492.4(CFTR):c.3666T>C (p.Gly1222=)
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter) rs79660178
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.3682G>T (p.Glu1228Ter) rs759116351
NM_000492.4(CFTR):c.3684G>A (p.Glu1228=)
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=) rs139322772
NM_000492.4(CFTR):c.3688A>G (p.Ile1230Val)
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
NM_000492.4(CFTR):c.3690T>C (p.Ile1230=)
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro) rs1792676456
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.3697T>C (p.Ser1233Pro)
NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs)
NM_000492.4(CFTR):c.3699A>G (p.Ser1233=)
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3706C>G (p.Pro1236Ala)
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg) rs193922519
NM_000492.4(CFTR):c.3711C>A (p.Gly1237=) rs1316425599
NM_000492.4(CFTR):c.3711C>G (p.Gly1237=)
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.4(CFTR):c.3717+11A>T
NM_000492.4(CFTR):c.3717+13C>T
NM_000492.4(CFTR):c.3717+14A>G
NM_000492.4(CFTR):c.3717+16T>G rs749483814
NM_000492.4(CFTR):c.3717+1G>A rs750558115
NM_000492.4(CFTR):c.3717+3055_3717+3064delinsTGTCTCAGTGGGTGGGAAAGGGTGTCTCAGA
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3717+40A>T
NM_000492.4(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3717+6029A>G
NM_000492.4(CFTR):c.3718-14C>T
NM_000492.4(CFTR):c.3718-15A>C
NM_000492.4(CFTR):c.3718-18A>G
NM_000492.4(CFTR):c.3718-1G>A rs387906369
NM_000492.4(CFTR):c.3718-1G>C
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT rs397515289
NM_000492.4(CFTR):c.3718-2476G>T rs949635279
NM_000492.4(CFTR):c.3718-2477C>A rs75039782
NM_000492.4(CFTR):c.3718-24G>T rs374013084
NM_000492.4(CFTR):c.3718-24_3873+601del rs1554395323
NM_000492.4(CFTR):c.3718-3598C>T rs2116156664
NM_000492.4(CFTR):c.3718-3T>C
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.3718-5034G>A
NM_000492.4(CFTR):c.3718-5_3725del rs2116166586
NM_000492.4(CFTR):c.3718-7104A>T
NM_000492.4(CFTR):c.3718-917T>C
NM_000492.4(CFTR):c.3718-9A>T
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.3725del (p.Leu1242fs) rs2116166673
NM_000492.4(CFTR):c.3726C>G (p.Leu1242=) rs758818517
NM_000492.4(CFTR):c.3726C>T (p.Leu1242=) rs758818517
NM_000492.4(CFTR):c.3727T>C (p.Leu1243=) rs1392953776
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter) rs1562923164
NM_000492.4(CFTR):c.3728T>G (p.Leu1243Trp)
NM_000492.4(CFTR):c.372C>T (p.Gly124=) rs1060503162
NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg) rs397508599
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val) rs267606723
NM_000492.4(CFTR):c.3735A>G (p.Arg1245=)
NM_000492.4(CFTR):c.3736del (p.Thr1246fs) rs2116166758
NM_000492.4(CFTR):c.3738T>C (p.Thr1246=)
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.4(CFTR):c.3739G>T (p.Gly1247Ter)
NM_000492.4(CFTR):c.3740G>A (p.Gly1247Glu)
NM_000492.4(CFTR):c.3740G>T (p.Gly1247Val)
NM_000492.4(CFTR):c.3741A>G (p.Gly1247=)
NM_000492.4(CFTR):c.3741A>T (p.Gly1247=) rs1792931608
NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs) rs2116166806
NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)
NM_000492.4(CFTR):c.3744A>G (p.Ser1248=)
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg) rs397508602
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg) rs397508602
NM_000492.4(CFTR):c.3747G>A (p.Gly1249=) rs794727373
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) rs797045159
NM_000492.4(CFTR):c.3749_3751dup (p.Lys1250dup) rs1584836961
NM_000492.4(CFTR):c.3752G>C (p.Ser1251Thr)
NM_000492.4(CFTR):c.3754A>C (p.Thr1252Pro) rs397508603
NM_000492.4(CFTR):c.3756T>C (p.Thr1252=)
NM_000492.4(CFTR):c.3759G>T (p.Leu1253Phe)
NM_000492.4(CFTR):c.375A>G (p.Ile125Met)
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter) rs397508604
NM_000492.4(CFTR):c.3762A>G (p.Leu1254=)
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.4(CFTR):c.3765A>G (p.Ser1255=)
NM_000492.4(CFTR):c.3767C>G (p.Ala1256Gly) rs773852510
NM_000492.4(CFTR):c.3767dup (p.Leu1258fs) rs387906370
NM_000492.4(CFTR):c.3772T>C (p.Leu1258=) rs202074317
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3776G>C (p.Arg1259Thr) rs1470171438
NM_000492.4(CFTR):c.3777ACT[1] (p.Leu1261del) rs397508610
NM_000492.4(CFTR):c.3779T>C (p.Leu1260Pro)
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala) rs397508609
NM_000492.4(CFTR):c.3780A>C (p.Leu1260=)
NM_000492.4(CFTR):c.3782T>G (p.Leu1261Arg)
NM_000492.4(CFTR):c.3782_3783del (p.Leu1261fs)
NM_000492.4(CFTR):c.3783G>C (p.Leu1261=) rs771812900
NM_000492.4(CFTR):c.3787A>G (p.Thr1263Ala) rs1554395363
NM_000492.4(CFTR):c.3788del (p.Thr1263fs)
NM_000492.4(CFTR):c.378C>T (p.Gly126=)
NM_000492.4(CFTR):c.3792A>G (p.Glu1264=)
NM_000492.4(CFTR):c.3792del (p.Gly1265fs)
NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)
NM_000492.4(CFTR):c.3793G>T (p.Gly1265Ter)
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.3795del (p.Glu1266fs)
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter) rs1584837090
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
NM_000492.4(CFTR):c.3798A>G (p.Glu1266=)
NM_000492.4(CFTR):c.379T>C (p.Leu127=) rs2116670348
NM_000492.4(CFTR):c.3800T>A (p.Ile1267Asn)
NM_000492.4(CFTR):c.3801C>A (p.Ile1267=)
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn) rs1562923253
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met) rs1800129
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=) rs1800129
NM_000492.4(CFTR):c.3809A>T (p.Asp1270Val)
NM_000492.4(CFTR):c.380T>G (p.Leu127Ter) rs397508611
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup) rs193922521
NM_000492.4(CFTR):c.3810T>C (p.Asp1270=)
NM_000492.4(CFTR):c.3811G>A (p.Gly1271Ser)
NM_000492.4(CFTR):c.3815T>G (p.Val1272Gly)
NM_000492.4(CFTR):c.3816G>A (p.Val1272=)
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs) rs397508612
NM_000492.4(CFTR):c.3819T>G (p.Ser1273=)
NM_000492.4(CFTR):c.381A>G (p.Leu127=)
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter) rs397508613
NM_000492.4(CFTR):c.3824A>G (p.Asp1275Gly)
NM_000492.4(CFTR):c.3828A>T (p.Ser1276=)
NM_000492.4(CFTR):c.3829A>G (p.Ile1277Val)
NM_000492.4(CFTR):c.3829del (p.Ser1276_Ile1277insTer) rs397508614
NM_000492.4(CFTR):c.3836T>A (p.Leu1279Ter)
NM_000492.4(CFTR):c.3836T>C (p.Leu1279Ser) rs1286786026
NM_000492.4(CFTR):c.3837G>T (p.Leu1279Phe)
NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter) rs1584837173
NM_000492.4(CFTR):c.3840A>G (p.Gln1280=)
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3842A>C (p.Gln1281Pro)
NM_000492.4(CFTR):c.3842A>G (p.Gln1281Arg) rs752127256
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter) rs1792935619
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.3848G>T (p.Arg1283Met) rs77902683
NM_000492.4(CFTR):c.3849G>A (p.Arg1283=)
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser) rs1792935893
NM_000492.4(CFTR):c.384C>T (p.Cys128=) rs1388235792
NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs) rs1057517404
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.3855C>G (p.Ala1285=)
NM_000492.4(CFTR):c.3855del (p.Phe1286fs) rs397508618
NM_000492.4(CFTR):c.3857T>C (p.Phe1286Ser) rs121909028
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.3859G>T (p.Gly1287Ter) 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.3871C>T (p.Gln1291Ter) rs397508620
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.4(CFTR):c.3873+10A>G rs1584837299
NM_000492.4(CFTR):c.3873+18G>A
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3873+1G>T rs143570767
NM_000492.4(CFTR):c.3873+20C>T
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3873+33A>G rs397508622
NM_000492.4(CFTR):c.3873+4987A>T
NM_000492.4(CFTR):c.3873+5G>A
NM_000492.4(CFTR):c.3874-105T>G rs1584842682
NM_000492.4(CFTR):c.3874-14_3874-10del
NM_000492.4(CFTR):c.3874-19C>A
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3874-26dup rs1554396371
NM_000492.4(CFTR):c.3874-27TTC[2] rs397508623
NM_000492.4(CFTR):c.3874-2A>C rs1554396384
NM_000492.4(CFTR):c.3874-2A>G rs1554396384
NM_000492.4(CFTR):c.3874-3828G>T
NM_000492.4(CFTR):c.3874-3854C>G
NM_000492.4(CFTR):c.3874-4A>C rs201381687
NM_000492.4(CFTR):c.3874-8T>A rs397508625
NM_000492.4(CFTR):c.3874-8del rs1562926012
NM_000492.4(CFTR):c.387T>C (p.Leu129=)
NM_000492.4(CFTR):c.387del (p.Leu130fs) rs397508627
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs) rs1793108213
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) rs387906373
NM_000492.4(CFTR):c.3883del (p.Ile1295fs) rs397508630
NM_000492.4(CFTR):c.3887T>C (p.Phe1296Ser)
NM_000492.4(CFTR):c.3889del (p.Ser1297fs)
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.388C>G (p.Leu130Val) rs397508632
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs) rs397508633
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.3900T>C (p.Phe1300=)
NM_000492.4(CFTR):c.3900dup (p.Arg1301Ter) rs1554396393
NM_000492.4(CFTR):c.3904A>G (p.Lys1302Glu)
NM_000492.4(CFTR):c.3907A>C (p.Asn1303His) rs121909042
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr) rs397508636
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3909C>T (p.Asn1303=)
NM_000492.4(CFTR):c.390C>G (p.Leu130=) rs1411911535
NM_000492.4(CFTR):c.3910T>C (p.Leu1304=) rs1478450897
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.3918C>T (p.Pro1306=) rs1800132
NM_000492.4(CFTR):c.391T>C (p.Phe131Leu)
NM_000492.4(CFTR):c.3920A>G (p.Tyr1307Cys) rs397508641
NM_000492.4(CFTR):c.3921T>A (p.Tyr1307Ter) rs397508642
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter) rs193922732
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter)
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr) rs1793109904
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys) rs121909026
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.4(CFTR):c.393del (p.Phe131fs) rs397508647
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.4(CFTR):c.3945A>C (p.Ile1315=)
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter) rs121909010
NM_000492.4(CFTR):c.3949A>T (p.Lys1317Ter) rs1793110279
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.4(CFTR):c.3953T>G (p.Val1318Gly)
NM_000492.4(CFTR):c.3954T>G (p.Val1318=)
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu) rs397508649
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs) rs193922523
NM_000492.4(CFTR):c.3958G>A (p.Asp1320Asn)
NM_000492.4(CFTR):c.3958G>C (p.Asp1320His)
NM_000492.4(CFTR):c.3960T>C (p.Asp1320=) rs2116195757
NM_000492.4(CFTR):c.3963+15T>C rs1269502695
NM_000492.4(CFTR):c.3963+19A>G
NM_000492.4(CFTR):c.3963+1G>A rs672601314
NM_000492.4(CFTR):c.3963+1G>C rs672601314
NM_000492.4(CFTR):c.3963+1G>T
NM_000492.4(CFTR):c.3963+20T>G
NM_000492.4(CFTR):c.3963+2T>A rs397508650
NM_000492.4(CFTR):c.3963+2T>G rs397508650
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.3964-17A>G
NM_000492.4(CFTR):c.3964-18T>C
NM_000492.4(CFTR):c.3964-18del
NM_000492.4(CFTR):c.3964-1_3964delinsTT
NM_000492.4(CFTR):c.3964-20A>C
NM_000492.4(CFTR):c.3964-3999TA[4]
NM_000492.4(CFTR):c.3964-3C>G rs397508652
NM_000492.4(CFTR):c.3964-78_4242+577del
NM_000492.4(CFTR):c.3964-7A>G
NM_000492.4(CFTR):c.3964-7A>T rs2116220618
NM_000492.4(CFTR):c.3964-9T>A rs1562928845
NM_000492.4(CFTR):c.3964-9T>C
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.3966T>A (p.Val1322=)
NM_000492.4(CFTR):c.3966_4242+2del rs1562928854
NM_000492.4(CFTR):c.396T>C (p.Ile132=)
NM_000492.4(CFTR):c.396del (p.Ile132fs) rs1798854379
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.3972C>G (p.Leu1324=)
NM_000492.4(CFTR):c.3972C>T (p.Leu1324=)
NM_000492.4(CFTR):c.3972del (p.Arg1325fs) rs1584848754
NM_000492.4(CFTR):c.3973A>C (p.Arg1325=) rs1231511097
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser) rs1793339514
NM_000492.4(CFTR):c.3976del (p.Ser1326fs) rs397508654
NM_000492.4(CFTR):c.3978T>C (p.Ser1326=)
NM_000492.4(CFTR):c.3980T>C (p.Val1327Ala)
NM_000492.4(CFTR):c.3980T>G (p.Val1327Gly)
NM_000492.4(CFTR):c.3981G>A (p.Val1327=) rs2116220727
NM_000492.4(CFTR):c.3982_3984delinsTT (p.Ile1328fs) rs397508655
NM_000492.4(CFTR):c.3984A>G (p.Ile1328Met)
NM_000492.4(CFTR):c.3985G>C (p.Glu1329Gln) rs397508656
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter) rs375661578
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.3989A>G (p.Gln1330Arg)
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile) rs1369611499
NM_000492.4(CFTR):c.3996T>C (p.Pro1332=) rs2116220796
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp) rs193922524
NM_000492.4(CFTR):c.3999del (p.Lys1334fs) rs886042527
NM_000492.4(CFTR):c.39C>T (p.Ser13=)
NM_000492.4(CFTR):c.3G>A (p.Met1Ile) rs397508657
NM_000492.4(CFTR):c.3G>T (p.Met1Ile) rs397508657
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4007A>C (p.Asp1336Ala)
NM_000492.4(CFTR):c.4007_4010del (p.Asp1336fs)
NM_000492.4(CFTR):c.4008C>T (p.Asp1336=)
NM_000492.4(CFTR):c.4009T>A (p.Phe1337Ile)
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val) rs397508659
NM_000492.4(CFTR):c.400A>C (p.Arg134=)
NM_000492.4(CFTR):c.4011T>C (p.Phe1337=)
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.4020G>A (p.Val1340=)
NM_000492.4(CFTR):c.4023del (p.Asp1341fs)
NM_000492.4(CFTR):c.4024G>A (p.Gly1342Arg)
NM_000492.4(CFTR):c.4025G>T (p.Gly1342Val)
NM_000492.4(CFTR):c.4025_4028dup (p.Cys1344fs) rs397508661
NM_000492.4(CFTR):c.4026G>A (p.Gly1342=)
NM_000492.4(CFTR):c.4026G>C (p.Gly1342=) rs1584848821
NM_000492.4(CFTR):c.4026G>T (p.Gly1342=)
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp) rs773458471
NM_000492.4(CFTR):c.4028G>C (p.Gly1343Ala)
NM_000492.4(CFTR):c.4028del (p.Gly1343fs) rs397508661
NM_000492.4(CFTR):c.402G>A (p.Arg134=)
NM_000492.4(CFTR):c.4030T>G (p.Cys1344Gly) rs1793341222
NM_000492.4(CFTR):c.4032T>A (p.Cys1344Ter)
NM_000492.4(CFTR):c.4034T>C (p.Val1345Ala)
NM_000492.4(CFTR):c.4035C>A (p.Val1345=) rs2116220979
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs) rs1554397497
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs) rs397508662
NM_000492.4(CFTR):c.4036dup (p.Leu1346fs)
NM_000492.4(CFTR):c.4037T>C (p.Leu1346Pro)
NM_000492.4(CFTR):c.4040G>A (p.Ser1347Asn)
NM_000492.4(CFTR):c.4040_4041del (p.Ser1347fs) rs397508664
NM_000492.4(CFTR):c.4042C>A (p.His1348Asn)
NM_000492.4(CFTR):c.4042del (p.His1348fs) rs397508665
NM_000492.4(CFTR):c.4044T>C (p.His1348=)
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4046del (p.Gly1349fs) rs1793342111
NM_000492.4(CFTR):c.4047C>A (p.Gly1349=)
NM_000492.4(CFTR):c.4047C>T (p.Gly1349=) rs2116221068
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.4(CFTR):c.4051A>T (p.Lys1351Ter) rs397508666
NM_000492.4(CFTR):c.4052del (p.Lys1351fs)
NM_000492.4(CFTR):c.4053G>A (p.Lys1351=)
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.4054C>T (p.Gln1352Ter) rs751098333
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.4057T>C (p.Leu1353=)
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer) rs1562928927
NM_000492.4(CFTR):c.405A>C (p.Thr135=)
NM_000492.4(CFTR):c.405A>G (p.Thr135=)
NM_000492.4(CFTR):c.405_406dup (p.Leu136fs) rs1554379846
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.4068G>A (p.Leu1356=)
NM_000492.4(CFTR):c.4071_4073delinsAA (p.Arg1358fs) rs397508667
NM_000492.4(CFTR):c.4071del (p.Arg1358fs) rs1584848901
NM_000492.4(CFTR):c.4076C>A (p.Ser1359Tyr)
NM_000492.4(CFTR):c.4076C>G (p.Ser1359Cys)
NM_000492.4(CFTR):c.4077T>C (p.Ser1359=) rs1449323479
NM_000492.4(CFTR):c.4077T>G (p.Ser1359=) rs1449323479
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
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.4083C>T (p.Leu1361=)
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn) rs777892053
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter) rs397508669
NM_000492.4(CFTR):c.4088A>G (p.Lys1363Arg)
NM_000492.4(CFTR):c.408G>C (p.Leu136=)
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.4098C>T (p.Ile1366=)
NM_000492.4(CFTR):c.409_412del (p.Leu137fs) rs397508671
NM_000492.4(CFTR):c.409del (p.Leu137fs) rs397508672
NM_000492.4(CFTR):c.40A>C (p.Lys14Gln)
NM_000492.4(CFTR):c.40A>T (p.Lys14Ter) rs397508673
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
NM_000492.4(CFTR):c.4103T>C (p.Leu1368Pro)
NM_000492.4(CFTR):c.4104G>A (p.Leu1368=)
NM_000492.4(CFTR):c.4108G>C (p.Asp1370His)
NM_000492.4(CFTR):c.410T>A (p.Leu137His) rs397508674
NM_000492.4(CFTR):c.410_416del (p.Leu137fs) rs1584785072
NM_000492.4(CFTR):c.4110T>A (p.Asp1370Glu)
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
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.4116C>T (p.Pro1372=) rs1793345960
NM_000492.4(CFTR):c.4118G>T (p.Ser1373Ile) rs587780313
NM_000492.4(CFTR):c.411C>T (p.Leu137=)
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.4(CFTR):c.4126T>C (p.Leu1376=) rs2116221499
NM_000492.4(CFTR):c.4127_4131del (p.Leu1376fs) rs1554397527
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) 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+12A>T rs777853603
NM_000492.4(CFTR):c.4136+13T>C
NM_000492.4(CFTR):c.4136+14G>A rs1389376517
NM_000492.4(CFTR):c.4136+14G>T
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4136+20T>A
NM_000492.4(CFTR):c.4136+2T>G rs1562928998
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.4137-12T>C
NM_000492.4(CFTR):c.4137-20G>T
NM_000492.4(CFTR):c.4137-23G>A
NM_000492.4(CFTR):c.4137-4C>T rs766178879
NM_000492.4(CFTR):c.4137-5dup rs1171674692
NM_000492.4(CFTR):c.4137-8T>C
NM_000492.4(CFTR):c.4139C>T (p.Thr1380Ile)
NM_000492.4(CFTR):c.4139del (p.Thr1380fs) rs397508680
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4140A>T (p.Thr1380=) rs2116222559
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.4143C>A (p.Tyr1381Ter) rs397508683
NM_000492.4(CFTR):c.4143C>G (p.Tyr1381Ter) rs397508683
NM_000492.4(CFTR):c.4144C>A (p.Gln1382Lys)
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.4147A>G (p.Ile1383Val)
NM_000492.4(CFTR):c.4147A>T (p.Ile1383Leu)
NM_000492.4(CFTR):c.4147dup (p.Ile1383fs) rs397508685
NM_000492.4(CFTR):c.4151T>C (p.Ile1384Thr) rs1584849296
NM_000492.4(CFTR):c.4152T>C (p.Ile1384=)
NM_000492.4(CFTR):c.415C>T (p.His139Tyr)
NM_000492.4(CFTR):c.4161T>C (p.Thr1387=)
NM_000492.4(CFTR):c.4162C>G (p.Leu1388Val) rs1554397584
NM_000492.4(CFTR):c.4163T>A (p.Leu1388Gln) rs397508688
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro) rs397508688
NM_000492.4(CFTR):c.4164A>G (p.Leu1388=)
NM_000492.4(CFTR):c.4168C>T (p.Gln1390Ter) rs397508689
NM_000492.4(CFTR):c.416A>G (p.His139Arg) rs76371115
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.4173A>T (p.Ala1391=)
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.4188A>G (p.Thr1396=) rs1322987429
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu) rs397508691
NM_000492.4(CFTR):c.4191A>T (p.Val1397=) rs2116222773
NM_000492.4(CFTR):c.4194T>C (p.Ile1398=) rs2116222791
NM_000492.4(CFTR):c.4195C>A (p.Leu1399Ile)
NM_000492.4(CFTR):c.4195C>G (p.Leu1399Val) rs1562929162
NM_000492.4(CFTR):c.4197C>T (p.Leu1399=) rs79688066
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.4199del (p.Cys1400fs) rs1554397593
NM_000492.4(CFTR):c.419C>G (p.Pro140Arg)
NM_000492.4(CFTR):c.419C>T (p.Pro140Leu) rs397508694
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer) rs397508695
NM_000492.4(CFTR):c.4201G>A (p.Glu1401Lys) rs397508696
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter) rs397508696
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.4218A>G (p.Ala1406=)
NM_000492.4(CFTR):c.4219A>G (p.Met1407Val)
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=) rs1793360215
NM_000492.4(CFTR):c.4223T>C (p.Leu1408Pro)
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter) rs397508699
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.4230C>A (p.Cys1410Ter)
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_000492.4(CFTR):c.4233A>G (p.Gln1411=)
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter) rs397508702
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=) rs541737583
NM_000492.4(CFTR):c.4238T>G (p.Phe1413Cys)
NM_000492.4(CFTR):c.423C>T (p.Ala141=) rs1584785096
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser) rs397508703
NM_000492.4(CFTR):c.4242+19A>C rs1554397608
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4242+20C>T rs1229413013
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.4242+5G>A rs1562929196
NM_000492.4(CFTR):c.4242+6T>C rs1562929200
NM_000492.4(CFTR):c.4242+7C>T rs1793361429
NM_000492.4(CFTR):c.4243-11C>T
NM_000492.4(CFTR):c.4243-15C>A
NM_000492.4(CFTR):c.4243-15C>T
NM_000492.4(CFTR):c.4243-16A>G rs780125251
NM_000492.4(CFTR):c.4243-19C>G rs2116226004
NM_000492.4(CFTR):c.4243-21_4243-18del
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_000492.4(CFTR):c.4243-3T>C
NM_000492.4(CFTR):c.4243-4C>G
NM_000492.4(CFTR):c.4243-576A>G
NM_000492.4(CFTR):c.4243-7T>C rs2116226050
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.4243-8T>C rs2116226043
NM_000492.4(CFTR):c.4244T>G (p.Val1415Gly) rs779591474
NM_000492.4(CFTR):c.4245C>T (p.Val1415=)
NM_000492.4(CFTR):c.4248A>T (p.Ile1416=)
NM_000492.4(CFTR):c.424A>G (p.Ile142Val) rs1562889369
NM_000492.4(CFTR):c.424del (p.Ile142fs) rs387906363
NM_000492.4(CFTR):c.4251A>C (p.Glu1417Asp) rs1793384834
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter) rs397508707
NM_000492.4(CFTR):c.4253A>G (p.Glu1418Gly)
NM_000492.4(CFTR):c.4256A>T (p.Asn1419Ile) rs1461912555
NM_000492.4(CFTR):c.425T>G (p.Ile142Ser)
NM_000492.4(CFTR):c.4261G>C (p.Val1421Leu)
NM_000492.4(CFTR):c.4263G>A (p.Val1421=) rs1793385225
NM_000492.4(CFTR):c.4264C>G (p.Arg1422Gly)
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp) rs373172017
NM_000492.4(CFTR):c.4265G>C (p.Arg1422Pro)
NM_000492.4(CFTR):c.4266G>A (p.Arg1422=)
NM_000492.4(CFTR):c.4266G>T (p.Arg1422=) rs545385510
NM_000492.4(CFTR):c.4268A>G (p.Gln1423Arg)
NM_000492.4(CFTR):c.4269G>A (p.Gln1423=) rs2116226188
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr) rs762847468
NM_000492.4(CFTR):c.427T>G (p.Phe143Val)
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr) rs193922528
NM_000492.4(CFTR):c.4284G>A (p.Gln1428=)
NM_000492.4(CFTR):c.4288C>T (p.Leu1430=)
NM_000492.4(CFTR):c.4291C>T (p.Leu1431=) rs774296351
NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del) rs747078069
NM_000492.4(CFTR):c.4292T>G (p.Leu1431Arg)
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys) rs761669740
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter) rs750559671
NM_000492.4(CFTR):c.4298A>G (p.Glu1433Gly)
NM_000492.4(CFTR):c.4299G>C (p.Glu1433Asp)
NM_000492.4(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.4(CFTR):c.42del (p.Lys14fs) rs397508710
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.4304G>A (p.Ser1435Asn)
NM_000492.4(CFTR):c.4305C>G (p.Ser1435Arg)
NM_000492.4(CFTR):c.4312del (p.Arg1438fs)
NM_000492.4(CFTR):c.4314G>T (p.Arg1438=)
NM_000492.4(CFTR):c.4315C>T (p.Gln1439Ter)
NM_000492.4(CFTR):c.4319C>G (p.Ala1440Gly)
NM_000492.4(CFTR):c.4323C>G (p.Ile1441Met)
NM_000492.4(CFTR):c.4325G>C (p.Ser1442Thr)
NM_000492.4(CFTR):c.4325del (p.Ser1442fs)
NM_000492.4(CFTR):c.4326C>T (p.Ser1442=) rs753963572
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser) rs1336644939
NM_000492.4(CFTR):c.4328C>G (p.Pro1443Arg)
NM_000492.4(CFTR):c.4328C>T (p.Pro1443Leu)
NM_000492.4(CFTR):c.4329C>G (p.Pro1443=)
NM_000492.4(CFTR):c.4329C>T (p.Pro1443=)
NM_000492.4(CFTR):c.4329del (p.Ser1444fs) rs1554397769
NM_000492.4(CFTR):c.432C>T (p.Gly144=) rs1431645851
NM_000492.4(CFTR):c.4331C>T (p.Ser1444Phe)
NM_000492.4(CFTR):c.4332C>T (p.Ser1444=) rs779359608
NM_000492.4(CFTR):c.4335C>T (p.Asp1445=)
NM_000492.4(CFTR):c.4336A>G (p.Arg1446Gly) rs985995406
NM_000492.4(CFTR):c.4338G>A (p.Arg1446=)
NM_000492.4(CFTR):c.4339G>A (p.Val1447Met)
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer) rs1554397772
NM_000492.4(CFTR):c.433C>G (p.Leu145Val)
NM_000492.4(CFTR):c.433del (p.Leu145fs) rs1562889382
NM_000492.4(CFTR):c.4340del (p.Val1447fs) rs2116226496
NM_000492.4(CFTR):c.4344G>A (p.Lys1448=)
NM_000492.4(CFTR):c.4345_*486delinsTTG (p.Phe1450_Ter1481del)
NM_000492.4(CFTR):c.4345_*487delinsTTG (p.Phe1450fs)
NM_000492.4(CFTR):c.4346T>C (p.Leu1449Pro)
NM_000492.4(CFTR):c.4347C>G (p.Leu1449=)
NM_000492.4(CFTR):c.4347C>T (p.Leu1449=)
NM_000492.4(CFTR):c.4353C>T (p.Pro1451=) rs1345439008
NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)
NM_000492.4(CFTR):c.4357C>A (p.Arg1453=)
NM_000492.4(CFTR):c.4357C>G (p.Arg1453Gly) rs4148725
NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)
NM_000492.4(CFTR):c.435TCA[1] (p.His147del)
NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter) rs121909043
NM_000492.4(CFTR):c.4365A>G (p.Ser1455=)
NM_000492.4(CFTR):c.4368C>G (p.Ser1456Arg) rs1793394598
NM_000492.4(CFTR):c.4370A>T (p.Lys1457Met)
NM_000492.4(CFTR):c.4371G>A (p.Lys1457=)
NM_000492.4(CFTR):c.4377G>A (p.Lys1459=) rs1554397779
NM_000492.4(CFTR):c.4380T>C (p.Ser1460=)
NM_000492.4(CFTR):c.4384C>T (p.Pro1462Ser)
NM_000492.4(CFTR):c.4387_4388del (p.Gln1463fs) rs2116226651
NM_000492.4(CFTR):c.4389del (p.Ile1464fs) rs1584850283
NM_000492.4(CFTR):c.4391T>C (p.Ile1464Thr)
NM_000492.4(CFTR):c.4392del (p.Ile1464fs) rs1793395260
NM_000492.4(CFTR):c.4394C>G (p.Ala1465Gly)
NM_000492.4(CFTR):c.4399C>T (p.Leu1467=)
NM_000492.4(CFTR):c.43del (p.Leu15fs) rs397508715
NM_000492.4(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa) rs1562929636
NM_000492.4(CFTR):c.4400del (p.Leu1467fs) rs1562929633
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
NM_000492.4(CFTR):c.440A>C (p.His147Pro)
NM_000492.4(CFTR):c.4410G>A (p.Glu1470=) rs1466916972
NM_000492.4(CFTR):c.4412C>T (p.Thr1471Ile)
NM_000492.4(CFTR):c.4415A>T (p.Glu1472Val)
NM_000492.4(CFTR):c.4417G>A (p.Glu1473Lys) rs397508716
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.4(CFTR):c.441C>T (p.His147=)
NM_000492.4(CFTR):c.441_442del (p.Ile148fs)
NM_000492.4(CFTR):c.4422G>A (p.Glu1474=)
NM_000492.4(CFTR):c.4423G>T (p.Val1475Leu) rs369464175
NM_000492.4(CFTR):c.4424T>C (p.Val1475Ala)
NM_000492.4(CFTR):c.4425G>A (p.Val1475=) rs776922524
NM_000492.4(CFTR):c.442del (p.Ile148fs) rs121908770
NM_000492.4(CFTR):c.4430A>T (p.Asp1477Val)
NM_000492.4(CFTR):c.4431T>C (p.Asp1477=) rs765554812
NM_000492.4(CFTR):c.4433C>A (p.Thr1478Lys)
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) rs753173837
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.443T>G (p.Ile148Ser)
NM_000492.4(CFTR):c.4443G>C (p.Ter1481Tyr)
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg) rs397508718
NM_000492.4(CFTR):c.445G>T (p.Gly149Ter) rs397508718
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.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.450G>A (p.Met150Ile)
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter) rs397508720
NM_000492.4(CFTR):c.453G>A (p.Gln151=)
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.455T>G (p.Met152Arg) rs397508722
NM_000492.4(CFTR):c.456G>A (p.Met152Ile) rs1403470018
NM_000492.4(CFTR):c.459_476del (p.Ala155_Ile160del) rs387906371
NM_000492.4(CFTR):c.45T>G (p.Leu15=) rs1212474322
NM_000492.4(CFTR):c.463G>C (p.Ala155Pro) rs397508723
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.4(CFTR):c.466A>G (p.Met156Val)
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer) rs1554379887
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.480T>C (p.Ile160=)
NM_000492.4(CFTR):c.480_483del (p.Tyr161fs)
NM_000492.4(CFTR):c.481T>A (p.Tyr161Asn) rs397508729
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp) rs397508729
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys) rs397508730
NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs) rs1584785196
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.487A>G (p.Lys163Glu) rs1798858347
NM_000492.4(CFTR):c.488A>C (p.Lys163Thr) rs1562889435
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.4(CFTR):c.489+10C>G rs1447914513
NM_000492.4(CFTR):c.489+11C>T
NM_000492.4(CFTR):c.489+1G>A rs78756941
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.489+2T>G rs397508732
NM_000492.4(CFTR):c.489+43_580-354del
NM_000492.4(CFTR):c.489+87_489+88dup rs1554379931
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000492.4(CFTR):c.489G>A (p.Lys163=) rs397508733
NM_000492.4(CFTR):c.490-13A>G
NM_000492.4(CFTR):c.490-14C>A
NM_000492.4(CFTR):c.490-15C>T rs2157735
NM_000492.4(CFTR):c.490-17T>G rs2116674831
NM_000492.4(CFTR):c.490-1G>C
NM_000492.4(CFTR):c.490-1G>T rs397508734
NM_000492.4(CFTR):c.490-26del rs781120531
NM_000492.4(CFTR):c.490-2A>G rs397508735
NM_000492.4(CFTR):c.490-4T>G
NM_000492.4(CFTR):c.490-8T>C
NM_000492.4(CFTR):c.490-8T>G
NM_000492.4(CFTR):c.490-9T>A rs2116674841
NM_000492.4(CFTR):c.491C>T (p.Thr164Ile)
NM_000492.4(CFTR):c.492T>A (p.Thr164=)
NM_000492.4(CFTR):c.492T>C (p.Thr164=)
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer) rs397508737
NM_000492.4(CFTR):c.496A>G (p.Lys166Glu) rs397508738
NM_000492.4(CFTR):c.498G>A (p.Lys166=)
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn) rs2116674891
NM_000492.4(CFTR):c.498del (p.Lys166fs)
NM_000492.4(CFTR):c.499C>T (p.Leu167=)
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
NM_000492.4(CFTR):c.49_50dup (p.Trp19fs) rs397508714
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.4del (p.Gln2fs) rs1562876396
NM_000492.4(CFTR):c.500T>G (p.Leu167Arg) rs397508741
NM_000492.4(CFTR):c.502_503del (p.Ser168fs)
NM_000492.4(CFTR):c.503C>G (p.Ser168Ter) rs869249241
NM_000492.4(CFTR):c.503C>T (p.Ser168Leu) rs869249241
NM_000492.4(CFTR):c.504A>G (p.Ser168=)
NM_000492.4(CFTR):c.505A>G (p.Ser169Gly) rs1554380309
NM_000492.4(CFTR):c.506G>A (p.Ser169Asn)
NM_000492.4(CFTR):c.506dup (p.Ser169fs) rs1554380311
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.50del (p.Phe17fs) rs397508714
NM_000492.4(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.4(CFTR):c.516A>G (p.Leu172=)
NM_000492.4(CFTR):c.518A>T (p.Asp173Val)
NM_000492.4(CFTR):c.51del (p.Phe17fs) rs1317756653
NM_000492.4(CFTR):c.520_530del (p.Lys174fs)
NM_000492.4(CFTR):c.521A>G (p.Lys174Arg)
NM_000492.4(CFTR):c.522_526del (p.Ile175fs) rs397508743
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.525A>T (p.Ile175=) rs2116674963
NM_000492.4(CFTR):c.527G>T (p.Ser176Ile)
NM_000492.4(CFTR):c.528T>C (p.Ser176=) rs1798911676
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
NM_000492.4(CFTR):c.53+1005T>G
NM_000492.4(CFTR):c.53+10T>C rs2116604777
NM_000492.4(CFTR):c.53+11G>A
NM_000492.4(CFTR):c.53+12G>A
NM_000492.4(CFTR):c.53+13C>A
NM_000492.4(CFTR):c.53+14C>T
NM_000492.4(CFTR):c.53+16A>G
NM_000492.4(CFTR):c.53+17C>A rs1797979411
NM_000492.4(CFTR):c.53+18C>A
NM_000492.4(CFTR):c.53+19G>T
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.53+2T>C
NM_000492.4(CFTR):c.53+3348G>A
NM_000492.4(CFTR):c.53+3G>C rs1797978937
NM_000492.4(CFTR):c.53+8G>A rs1584764672
NM_000492.4(CFTR):c.53+9G>T rs745414764
NM_000492.4(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.534_538del (p.Gln179fs)
NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)
NM_000492.4(CFTR):c.539T>C (p.Leu180Pro)
NM_000492.4(CFTR):c.53G>T (p.Ser18Ile)
NM_000492.4(CFTR):c.54-1161_164+1603del
NM_000492.4(CFTR):c.54-11C>T
NM_000492.4(CFTR):c.54-11_54-8del rs750763328
NM_000492.4(CFTR):c.54-13C>G rs397508749
NM_000492.4(CFTR):c.54-13del
NM_000492.4(CFTR):c.54-15_54-13del
NM_000492.4(CFTR):c.54-1G>T
NM_000492.4(CFTR):c.54-4235_164+377dup
NM_000492.4(CFTR):c.54-4T>G rs2116635058
NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT
NM_000492.4(CFTR):c.54-8T>C rs778197563
NM_000492.4(CFTR):c.54-9347T>A
NM_000492.4(CFTR):c.54-9T>C rs1584774278
NM_000492.4(CFTR):c.540T>G (p.Leu180=)
NM_000492.4(CFTR):c.543_546del (p.Leu183fs) rs397508750
NM_000492.4(CFTR):c.544dup (p.Ser182fs) rs1584786454
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.4(CFTR):c.548T>A (p.Leu183His)
NM_000492.4(CFTR):c.550del (p.Leu184fs) rs397508752
NM_000492.4(CFTR):c.551T>G (p.Leu184Arg) rs1798913255
NM_000492.4(CFTR):c.551_555del (p.Leu184fs)
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr) rs1798913314
NM_000492.4(CFTR):c.555C>T (p.Ser185=)
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.558del (p.Asn186fs)
NM_000492.4(CFTR):c.560A>G (p.Asn187Ser)
NM_000492.4(CFTR):c.560del (p.Asn187fs) rs1562890223
NM_000492.4(CFTR):c.561C>T (p.Asn187=) rs397508754
NM_000492.4(CFTR):c.562C>A (p.Leu188Met)
NM_000492.4(CFTR):c.562C>T (p.Leu188=)
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.567C>T (p.Asn189=) rs397508755
NM_000492.4(CFTR):c.56G>A (p.Trp19Ter) rs1057516232
NM_000492.4(CFTR):c.574G>A (p.Asp192Asn) rs397508756
NM_000492.4(CFTR):c.574G>C (p.Asp192His)
NM_000492.4(CFTR):c.574G>T (p.Asp192Tyr)
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.4(CFTR):c.575A>T (p.Asp192Val) rs397508758
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.578_579+5del rs397508760
NM_000492.4(CFTR):c.579+10T>C
NM_000492.4(CFTR):c.579+11A>G
NM_000492.4(CFTR):c.579+16T>C
NM_000492.4(CFTR):c.579+1_579+2insACAT rs2116675185
NM_000492.4(CFTR):c.579+20A>G
NM_000492.4(CFTR):c.579+3A>T rs397508761
NM_000492.4(CFTR):c.579+4T>C
NM_000492.4(CFTR):c.579+8C>A
NM_000492.4(CFTR):c.579+8C>G
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter) rs397508762
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.4(CFTR):c.580-14C>A
NM_000492.4(CFTR):c.580-15G>T
NM_000492.4(CFTR):c.580-18T>C
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.580-2A>C rs193922730
NM_000492.4(CFTR):c.580-3C>T rs2116676312
NM_000492.4(CFTR):c.580-9A>G rs1584786873
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.580G>C (p.Gly194Arg)
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter) rs376008630
NM_000492.4(CFTR):c.582A>G (p.Gly194=) rs561270322
NM_000492.4(CFTR):c.582A>T (p.Gly194=)
NM_000492.4(CFTR):c.585T>C (p.Leu195=)
NM_000492.4(CFTR):c.586G>A (p.Ala196Thr)
NM_000492.4(CFTR):c.586G>C (p.Ala196Pro)
NM_000492.4(CFTR):c.586dup (p.Ala196fs) rs1584786892
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.594A>C (p.Ala198=) rs1481956057
NM_000492.4(CFTR):c.596A>G (p.His199Arg) rs397508764
NM_000492.4(CFTR):c.597T>G (p.His199Gln) rs397508765
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile) rs397508766
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.600C>T (p.Phe200=) rs753492211
NM_000492.4(CFTR):c.601del (p.Val201fs) rs397508767
NM_000492.4(CFTR):c.603G>A (p.Val201=)
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter) rs397508768
NM_000492.4(CFTR):c.609C>A (p.Ile203=)
NM_000492.4(CFTR):c.609C>G (p.Ile203Met) rs1800081
NM_000492.4(CFTR):c.60C>A (p.Thr20=) rs534609552
NM_000492.4(CFTR):c.60C>T (p.Thr20=)
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser) rs748026786
NM_000492.4(CFTR):c.613C>A (p.Pro205Thr) rs121908803
NM_000492.4(CFTR):c.613_870-1547del
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) rs397508769
NM_000492.4(CFTR):c.617T>A (p.Leu206Ter)
NM_000492.4(CFTR):c.618G>A (p.Leu206=)
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe) rs397508770
NM_000492.4(CFTR):c.619C>A (p.Gln207Lys)
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.4(CFTR):c.621A>G (p.Gln207=)
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.630C>A (p.Leu210=)
NM_000492.4(CFTR):c.630C>T (p.Leu210=) rs1584786975
NM_000492.4(CFTR):c.633C>T (p.Leu211=) rs2116676523
NM_000492.4(CFTR):c.635T>C (p.Met212Thr)
NM_000492.4(CFTR):c.639G>A (p.Gly213=)
NM_000492.4(CFTR):c.63A>G (p.Arg21=) rs1356545960
NM_000492.4(CFTR):c.640C>G (p.Leu214Val) rs188457893
NM_000492.4(CFTR):c.642_643insT (p.Ile215fs) rs397508774
NM_000492.4(CFTR):c.645C>T (p.Ile215=)
NM_000492.4(CFTR):c.646T>C (p.Trp216Arg) rs1562890551
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.4(CFTR):c.647G>C (p.Trp216Ser)
NM_000492.4(CFTR):c.651G>A (p.Glu217=) rs1422913967
NM_000492.4(CFTR):c.652T>C (p.Leu218=) rs1798932836
NM_000492.4(CFTR):c.655T>C (p.Leu219=)
NM_000492.4(CFTR):c.657A>G (p.Leu219=) rs1798933085
NM_000492.4(CFTR):c.657dup (p.Gln220fs) rs1554380465
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
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.662del (p.Ala221fs) rs2116676645
NM_000492.4(CFTR):c.663G>T (p.Ala221=)
NM_000492.4(CFTR):c.667G>T (p.Ala223Ser)
NM_000492.4(CFTR):c.668C>T (p.Ala223Val)
NM_000492.4(CFTR):c.669C>G (p.Ala223=) rs2116676667
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.671del (p.Phe224fs) rs769693190
NM_000492.4(CFTR):c.672C>T (p.Phe224=)
NM_000492.4(CFTR):c.673T>C (p.Cys225Arg) rs397508780
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter) rs397508781
NM_000492.4(CFTR):c.675T>C (p.Cys225=)
NM_000492.4(CFTR):c.676G>A (p.Gly226Arg)
NM_000492.4(CFTR):c.676G>C (p.Gly226Arg) rs1562890588
NM_000492.4(CFTR):c.678A>T (p.Gly226=) rs1584787037
NM_000492.4(CFTR):c.67A>G (p.Ile23Val) rs1798377413
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg) rs397508782
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.684T>C (p.Gly228=)
NM_000492.4(CFTR):c.688C>T (p.Leu230=) rs201410793
NM_000492.4(CFTR):c.68T>C (p.Ile23Thr)
NM_000492.4(CFTR):c.692T>G (p.Ile231Arg)
NM_000492.4(CFTR):c.696C>A (p.Val232=) rs2116676736
NM_000492.4(CFTR):c.696C>T (p.Val232=)
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.705T>C (p.Leu235=)
NM_000492.4(CFTR):c.705T>G (p.Leu235=) rs762380161
NM_000492.4(CFTR):c.707T>A (p.Phe236Tyr)
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) rs397508784
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.714del (p.Gly239_Leu240insTer) rs397508787
NM_000492.4(CFTR):c.716G>A (p.Gly239Glu)
NM_000492.4(CFTR):c.717G>A (p.Gly239=)
NM_000492.4(CFTR):c.717G>T (p.Gly239=) rs764661797
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer) rs1554380497
NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
NM_000492.4(CFTR):c.718C>T (p.Leu240=)
NM_000492.4(CFTR):c.719T>G (p.Leu240Arg)
NM_000492.4(CFTR):c.71T>A (p.Leu24Ter)
NM_000492.4(CFTR):c.71del (p.Ile23_Leu24insTer)
NM_000492.4(CFTR):c.721G>T (p.Gly241Trp)
NM_000492.4(CFTR):c.722G>A (p.Gly241Glu)
NM_000492.4(CFTR):c.723G>A (p.Gly241=)
NM_000492.4(CFTR):c.723_743+1del rs121908804
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.72G>A (p.Leu24=)
NM_000492.4(CFTR):c.731T>A (p.Met244Lys) rs397508790
NM_000492.4(CFTR):c.731T>C (p.Met244Thr)
NM_000492.4(CFTR):c.736A>C (p.Lys246Gln)
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter) rs1800082
NM_000492.4(CFTR):c.741C>G (p.Tyr247Ter) rs1800082
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.742A>T (p.Arg248Ter) rs1554380515
NM_000492.4(CFTR):c.743+11A>G
NM_000492.4(CFTR):c.743+11A>T
NM_000492.4(CFTR):c.743+16C>G
NM_000492.4(CFTR):c.743+1G>A rs397508791
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.743+2T>C rs1584787119
NM_000492.4(CFTR):c.743+4G>T rs193922530
NM_000492.4(CFTR):c.743+554A>G
NM_000492.4(CFTR):c.743+8C>T
NM_000492.4(CFTR):c.743+9C>G
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.744-14_744-3del rs387906367
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.744-33=
NM_000492.4(CFTR):c.744-33GATT[5] rs1805171
NM_000492.4(CFTR):c.744-33GATT[6] rs1805171
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.744-8A>C rs2116678470
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
NM_000492.4(CFTR):c.744A>G (p.Arg248=)
NM_000492.4(CFTR):c.745G>T (p.Asp249Tyr)
NM_000492.4(CFTR):c.748C>T (p.Gln250Ter)
NM_000492.4(CFTR):c.751A>T (p.Arg251Ter) rs1798959540
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.755delinsGCTGGGAAGAT (p.Ala252fs) rs1584787657
NM_000492.4(CFTR):c.756T>C (p.Ala252=)
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg) rs1343896905
NM_000492.4(CFTR):c.761del (p.Lys254fs) rs2116678523
NM_000492.4(CFTR):c.764del (p.Ile255fs)
NM_000492.4(CFTR):c.765C>G (p.Ile255Met)
NM_000492.4(CFTR):c.765C>T (p.Ile255=) rs1202176665
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly) rs773790621
NM_000492.4(CFTR):c.768T>C (p.Ser256=) rs2116678553
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
NM_000492.4(CFTR):c.770A>G (p.Glu257Gly)
NM_000492.4(CFTR):c.772del (p.Arg258fs)
NM_000492.4(CFTR):c.773G>A (p.Arg258Lys) rs377514639
NM_000492.4(CFTR):c.773del (p.Arg258fs) rs397508794
NM_000492.4(CFTR):c.774A>G (p.Arg258=) rs1798960814
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe) rs762640483
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
NM_000492.4(CFTR):c.778G>A (p.Val260Met) rs1390016549
NM_000492.4(CFTR):c.780G>A (p.Val260=)
NM_000492.4(CFTR):c.780G>C (p.Val260=)
NM_000492.4(CFTR):c.782T>C (p.Ile261Thr)
NM_000492.4(CFTR):c.789A>G (p.Ser263=)
NM_000492.4(CFTR):c.789A>T (p.Ser263=) rs1484039409
NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
NM_000492.4(CFTR):c.798T>A (p.Ile266=) rs2116678632
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.4(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.4(CFTR):c.805_806del (p.Ile269fs) rs121908773
NM_000492.4(CFTR):c.807C>A (p.Ile269=)
NM_000492.4(CFTR):c.807C>T (p.Ile269=)
NM_000492.4(CFTR):c.808C>T (p.Gln270Ter) rs1584787716
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.4(CFTR):c.80del (p.Gly27fs) rs397508798
NM_000492.4(CFTR):c.810del (p.Gln270fs)
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.813T>G (p.Ser271=) rs1060504846
NM_000492.4(CFTR):c.817A>T (p.Lys273Ter) rs1296578005
NM_000492.4(CFTR):c.818A>C (p.Lys273Thr)
NM_000492.4(CFTR):c.819G>A (p.Lys273=)
NM_000492.4(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn) rs1554380796
NM_000492.4(CFTR):c.822A>G (p.Ala274=) rs2116678695
NM_000492.4(CFTR):c.825C>T (p.Tyr275=)
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.828C>T (p.Cys276=)
NM_000492.4(CFTR):c.829T>A (p.Trp277Arg) rs397508800
NM_000492.4(CFTR):c.830G>A (p.Trp277Ter) rs672601317
NM_000492.4(CFTR):c.830G>C (p.Trp277Ser)
NM_000492.4(CFTR):c.831G>A (p.Trp277Ter) rs2116678722
NM_000492.4(CFTR):c.833AAG[1] (p.Glu279del) rs397508801
NM_000492.4(CFTR):c.835G>T (p.Glu279Ter) rs1199914684
NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)
NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)
NM_000492.4(CFTR):c.844G>T (p.Glu282Ter)
NM_000492.4(CFTR):c.846A>G (p.Glu282=)
NM_000492.4(CFTR):c.84C>T (p.Tyr28=)
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
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.860dup (p.Asn287fs) rs387906380
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter) rs1584787782
NM_000492.4(CFTR):c.865A>G (p.Arg289Gly)
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter) rs1057516619
NM_000492.4(CFTR):c.866_870del (p.Arg289fs) rs1562891084
NM_000492.4(CFTR):c.867A>G (p.Arg289=) rs1798963965
NM_000492.4(CFTR):c.868C>G (p.Gln290Glu)
NM_000492.4(CFTR):c.869+11C>A
NM_000492.4(CFTR):c.869+1G>C rs1330431481
NM_000492.4(CFTR):c.869+1G>T rs1330431481
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.869+5G>C
NM_000492.4(CFTR):c.869+7T>A
NM_000492.4(CFTR):c.869+7T>C rs2116678864
NM_000492.4(CFTR):c.869+8G>A rs773933167
NM_000492.4(CFTR):c.869+8G>C rs773933167
NM_000492.4(CFTR):c.869+9T>C rs1798964448
NM_000492.4(CFTR):c.869A>T (p.Gln290Leu)
NM_000492.4(CFTR):c.870-1110T>C
NM_000492.4(CFTR):c.870-1111A>C
NM_000492.4(CFTR):c.870-1113G>C rs1799002964
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000492.4(CFTR):c.870-12T>A
NM_000492.4(CFTR):c.870-12T>G
NM_000492.4(CFTR):c.870-13T>C
NM_000492.4(CFTR):c.870-178T>A
NM_000492.4(CFTR):c.870-1G>C rs1351058559
NM_000492.4(CFTR):c.870-3T>G rs397508810
NM_000492.4(CFTR):c.870-4A>G rs755173693
NM_000492.4(CFTR):c.870-5del rs759762840
NM_000492.4(CFTR):c.870-5dup rs759762840
NM_000492.4(CFTR):c.870-682_870-350del
NM_000492.4(CFTR):c.870-6T>C
NM_000492.4(CFTR):c.870-7_870-5del rs759762840
NM_000492.4(CFTR):c.870-8T>C
NM_000492.4(CFTR):c.870-9T>C rs2116683428
NM_000492.4(CFTR):c.874G>A (p.Glu292Lys) rs397508811
NM_000492.4(CFTR):c.874G>T (p.Glu292Ter) rs397508811
NM_000492.4(CFTR):c.874_875del (p.Glu292fs) rs1799022949
NM_000492.4(CFTR):c.875A>G (p.Glu292Gly) rs1799023050
NM_000492.4(CFTR):c.876A>G (p.Glu292=) rs2116683514
NM_000492.4(CFTR):c.877C>A (p.Leu293Met) rs397508812
NM_000492.4(CFTR):c.878T>G (p.Leu293Arg)
NM_000492.4(CFTR):c.881_882del (p.Lys294fs) rs397508813
NM_000492.4(CFTR):c.882A>G (p.Lys294=) rs2116683549
NM_000492.4(CFTR):c.885G>T (p.Leu295=)
NM_000492.4(CFTR):c.888_889dup (p.Arg297fs) rs1057516387
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter) rs397508815
NM_000492.4(CFTR):c.891G>A (p.Arg297=)
NM_000492.4(CFTR):c.892A>T (p.Lys298Ter) rs1584789180
NM_000492.4(CFTR):c.894G>A (p.Lys298=)
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.89dup (p.Arg31fs) rs2116635157
NM_000492.4(CFTR):c.900C>T (p.Ala300=) rs146652541
NM_000492.4(CFTR):c.901T>C (p.Tyr301His)
NM_000492.4(CFTR):c.902dup (p.Tyr301Ter)
NM_000492.4(CFTR):c.905T>A (p.Val302Glu)
NM_000492.4(CFTR):c.905T>C (p.Val302Ala)
NM_000492.4(CFTR):c.906G>C (p.Val302=) rs2116683646
NM_000492.4(CFTR):c.90G>A (p.Gln30=)
NM_000492.4(CFTR):c.911A>C (p.Tyr304Ser)
NM_000492.4(CFTR):c.912C>G (p.Tyr304Ter) rs397508816
NM_000492.4(CFTR):c.912C>T (p.Tyr304=)
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys) rs1562892143
NM_000492.4(CFTR):c.915C>G (p.Phe305Leu)
NM_000492.4(CFTR):c.915_916del (p.Phe305fs)
NM_000492.4(CFTR):c.920G>A (p.Ser307Asn) rs397508817
NM_000492.4(CFTR):c.920G>T (p.Ser307Ile)
NM_000492.4(CFTR):c.921C>T (p.Ser307=)
NM_000492.4(CFTR):c.922_926del (p.Ser308fs) rs2116683702
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>A (p.Ala309=) rs1800084
NM_000492.4(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.4(CFTR):c.930C>T (p.Phe310=) rs1230103075
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226
NM_000492.4(CFTR):c.931T>C (p.Phe311Leu) rs2116683801
NM_000492.4(CFTR):c.932T>C (p.Phe311Ser)
NM_000492.4(CFTR):c.932T>G (p.Phe311Cys) rs1584789230
NM_000492.4(CFTR):c.933C>A (p.Phe311Leu)
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu) rs121909016
NM_000492.4(CFTR):c.93C>T (p.Arg31=)
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.941G>T (p.Gly314Val) rs75763344
NM_000492.4(CFTR):c.944T>G (p.Phe315Cys)
NM_000492.4(CFTR):c.947T>C (p.Phe316Ser)
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.948dup (p.Val317fs)
NM_000492.4(CFTR):c.949G>A (p.Val317Met)
NM_000492.4(CFTR):c.950T>A (p.Val317Glu) rs1204521684
NM_000492.4(CFTR):c.950T>G (p.Val317Gly)
NM_000492.4(CFTR):c.954G>A (p.Val318=) rs766189605
NM_000492.4(CFTR):c.959T>A (p.Leu320Ter) rs397508820
NM_000492.4(CFTR):c.959del (p.Leu320fs) rs1584789267
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe) rs56093012
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.4(CFTR):c.960dup (p.Ser321fs)
NM_000492.4(CFTR):c.962C>G (p.Ser321Cys)
NM_000492.4(CFTR):c.962del (p.Ser321fs)
NM_000492.4(CFTR):c.966G>C (p.Val322=) rs2116683990
NM_000492.4(CFTR):c.969T>A (p.Leu323=)
NM_000492.4(CFTR):c.96G>A (p.Leu32=)
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu) rs397508822
NM_000492.4(CFTR):c.972del (p.Tyr325fs)
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.978A>T (p.Ala326=)
NM_000492.4(CFTR):c.979C>G (p.Leu327Val)
NM_000492.4(CFTR):c.97G>T (p.Glu33Ter)
NM_000492.4(CFTR):c.980del (p.Leu327fs) rs397508823
NM_000492.4(CFTR):c.981A>T (p.Leu327=)
NM_000492.4(CFTR):c.987del (p.Gly330fs) rs397508824
NM_000492.4(CFTR):c.991A>T (p.Ile331Phe)
NM_000492.4(CFTR):c.993C>T (p.Ile331=) rs2116684106
NM_000492.4(CFTR):c.996C>A (p.Ile332=)
NM_000492.4(CFTR):c.996C>T (p.Ile332=)
NM_000492.4(CFTR):c.9del (p.Arg3fs)
NM_000492.4(CFTR):c.[1209+1988_1392+2067inv;1392+2072_1392+2074del]
NM_000492.4(CFTR):c.[1210-34TG[12];1210-9_1210-6del]
NM_000492.4(CFTR):c.[1523T>G;3752G>A]
NM_000492.4(CFTR):c.[3469-189_3717+3822del;3469-331_3469-295del]
NM_000492.4(CFTR):c.[3846G>A;3848G>T]
NM_000492.4(CFTR):c.[4C>T;7A>T]
NM_000492.4:c.(1209+1_1210-1)_(1392+1_1393-1)del
NM_000492.4:c.(1392+1_1393-1)_(1584+1_1585-1)del
NM_000492.4:c.(1766+1_1767-1)_(2619+1_2620-1)del
NM_000492.4:c.(2619+1_2620-1)_(3367+1_3368-1)del
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)del
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.(273+1_274-1)_(1584+1_1585-1)del
NM_000492.4:c.(273+1_274-1)_(1679+1_1680-1)del
NM_000492.4:c.(2908+1_2909-1)_(3139+1_3140-1)dup
NM_000492.4:c.(2908+1_2909-1)_(4242+1_4243-1)del
NM_000492.4:c.(2988+1_2989-1)_(3367+1_3368-1)del
NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del
NM_000492.4:c.(3139+1_3140-1)_(3367+1_3368-1)del
NM_000492.4:c.(3428+1_3469-1)_(3717+1_3718-1)dup
NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del
NM_000492.4:c.(3468+1_3469-1)_(3873+1_3874-1)del
NM_000492.4:c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.4:c.(3873+1_3874-1)_(3963+1_3964-1)del
NM_000492.4:c.(3963+1_3964-1)_(*1_?)del
NM_000492.4:c.(4136+1_4137-1)_(4242+1_4243-1)del
NM_000492.4:c.(53+1_54-1)_(1209+1_1210+1)del
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)del
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)delins186
NM_000492.4:c.(743+1_744-1)_(1584+1_1585-1)dup
NM_000492.4:c.(?_-1)_(*1_?)del
NM_000492.4:c.53+9713_1392+2669del
NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe) rs1675655979
NM_001136219.3(FCGR2A):c.780+1G>A rs409763
NM_001282426.2(PIK3CG):c.2496T>G (p.Phe832Leu)
NP_000483.3(CFTR):p.Tyr1092Ter
NP_000483.3:p.Ser549Arg
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.