ClinVar Miner

List of variants studied for autosomal recessive disease by Ambry Genetics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2040
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_000492.4(CFTR):c.1680-870T>A rs213965 0.55332
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_000492.4(CFTR):c.1393-61A>G rs34855237 0.25355
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000492.4(CFTR):c.869+11C>T rs1800503 0.07590
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
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.2898G>A (p.Thr966=) rs1800109 0.00907
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.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.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.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.2620-15C>G rs139379077 0.00212
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
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.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.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.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.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.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.890G>A (p.Arg297Gln) rs143486492 0.00059
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.274-6T>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_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
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.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.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
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.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.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln) rs397508395 0.00013
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe) rs1330281974 0.00013
NM_000492.4(CFTR):c.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_000492.4(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.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_000492.4(CFTR):c.2279C>T (p.Thr760Met) rs397508359 0.00010
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val) rs780187979 0.00010
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro) rs565971160 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 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.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 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.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.3025G>A (p.Ala1009Thr) rs184724618 0.00008
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000492.4(CFTR):c.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.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.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.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.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.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg) rs375325315 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561 0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val) rs148604667 0.00005
NM_000492.4(CFTR):c.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.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.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.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 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.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.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.1600G>T (p.Ala534Ser) rs1276867493 0.00003
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser) rs762224063 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.180G>C (p.Glu60Asp) rs569426839 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 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.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.2895C>A (p.Asn965Lys) rs779569793 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) rs373561883 0.00003
NM_000492.4(CFTR):c.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.3276C>A (p.Tyr1092Ter) rs121908761 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.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.4091C>T (p.Ala1364Val) rs397508670 0.00003
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=) rs763937782 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.634A>G (p.Met212Val) rs540269075 0.00003
NM_000492.4(CFTR):c.674G>A (p.Cys225Tyr) rs866473559 0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) rs775713428 0.00003
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp) rs773509355 0.00003
NM_000492.4(CFTR):c.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.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.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 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.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.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.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.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.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.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.76A>G (p.Lys26Glu) rs759726535 0.00002
NM_000492.4(CFTR):c.810A>G (p.Gln270=) rs767312350 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
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.1137A>C (p.Glu379Asp) rs774308232 0.00001
NM_000492.4(CFTR):c.1209+6A>G rs749054857 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) rs766063304 0.00001
NM_000492.4(CFTR):c.1258A>G (p.Lys420Glu) rs377629509 0.00001
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp) rs765791986 0.00001
NM_000492.4(CFTR):c.1315C>A (p.Pro439Thr) rs397508187 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.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.142A>C (p.Asn48His) rs1248202161 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.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr) rs397508220 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.1545T>C (p.Tyr515=) rs747504631 0.00001
NM_000492.4(CFTR):c.1557C>T (p.Ser519=) rs757736710 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.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.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.1680-1G>A rs121908794 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.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.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.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe) rs1048183757 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.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.2112A>G (p.Pro704=) rs926782023 0.00001
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val) rs745538406 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.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.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.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.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+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2505T>C (p.Asp835=) rs761043298 0.00001
NM_000492.4(CFTR):c.2526A>G (p.Ala842=) rs758128209 0.00001
NM_000492.4(CFTR):c.2544A>T (p.Thr848=) rs751242146 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.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.2808A>G (p.Pro936=) rs397508438 0.00001
NM_000492.4(CFTR):c.2810dup (p.Val938fs) rs193922510 0.00001
NM_000492.4(CFTR):c.281C>T (p.Thr94Ile) rs767204327 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.2908+4C>A rs372266030 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.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.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.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.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3108C>T (p.Thr1036=) rs773627677 0.00001
NM_000492.4(CFTR):c.3139+11G>C rs555185521 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.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.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.3306A>G (p.Arg1102=) rs746620950 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.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val) rs755472768 0.00001
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044 0.00001
NM_000492.4(CFTR):c.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.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.3659del (p.Thr1220fs) rs121908811 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.3713A>G (p.Gln1238Arg) rs397508594 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.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.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.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.3873G>C (p.Gln1291His) rs121909015 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.3925C>G (p.Gln1309Glu) rs193922732 0.00001
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646 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.4048C>T (p.His1350Tyr) rs955306189 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.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.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.4225G>A (p.Glu1409Lys) rs397508699 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.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.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.441C>G (p.His147Gln) rs759310470 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.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.579+5G>A rs78440224 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.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.725G>A (p.Arg242Lys) rs758012554 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.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+14A>G rs1554380834 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.925G>A (p.Ala309Thr) rs148013312 0.00001
NM_000492.4(CFTR):c.927C>G (p.Ala309=) rs1800084 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.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
NM_000492.3(CFTR):c.-232G>T
NM_000492.3(CFTR):c.-507A>G
NM_000492.3(CFTR):c.-512C>G
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.3:c.54_273del
NM_000492.4(CFTR):c.*5C>T
NM_000492.4(CFTR):c.-1C>G
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.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1014C>A (p.Thr338=)
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.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.1035T>C (p.Val345=)
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.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.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1058A>G (p.Gln353Arg)
NM_000492.4(CFTR):c.1059A>G (p.Gln353=) rs1800087
NM_000492.4(CFTR):c.1060T>C (p.Phe354Leu)
NM_000492.4(CFTR):c.1071T>C (p.Ala357=)
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) rs76879328
NM_000492.4(CFTR):c.1077A>G (p.Gln359=) rs761324191
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.1084T>C (p.Tyr362His)
NM_000492.4(CFTR):c.1084T>G (p.Tyr362Asp)
NM_000492.4(CFTR):c.1085A>G (p.Tyr362Cys)
NM_000492.4(CFTR):c.108C>T (p.Asp36=)
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
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.110T>C (p.Ile37Thr)
NM_000492.4(CFTR):c.1113A>G (p.Ile371Met)
NM_000492.4(CFTR):c.1115A>T (p.Gln372Leu)
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1117-17C>T
NM_000492.4(CFTR):c.1117G>T (p.Asp373Tyr)
NM_000492.4(CFTR):c.1118A>T (p.Asp373Val)
NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys) rs1562892823
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
NM_000492.4(CFTR):c.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>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.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>T (p.Thr382=)
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.1154A>G (p.Tyr385Cys) rs1799062053
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.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.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.1170A>G (p.Thr390=)
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.117A>T (p.Gln39His) rs764522674
NM_000492.4(CFTR):c.1185G>A (p.Glu395=)
NM_000492.4(CFTR):c.1189G>C (p.Val397Leu) rs1225700054
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>T (p.Ala399Val) rs146463120
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.1203G>A (p.Trp401Ter) rs397508175
NM_000492.4(CFTR):c.1209+1G>A rs397508176
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1209+9T>G
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.1210-13_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.1210-15_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.1210-17_1210-13delinsTTT
NM_000492.4(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.4(CFTR):c.1210-5A>G
NM_000492.4(CFTR):c.1210-6T>A rs763339686
NM_000492.4(CFTR):c.1210-6dup rs1805177
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val) rs1324302547
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1212A>T (p.Gly404=)
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1221A>G (p.Glu407=) rs2115902714
NM_000492.4(CFTR):c.122C>G (p.Pro41Arg)
NM_000492.4(CFTR):c.1234G>T (p.Ala412Ser)
NM_000492.4(CFTR):c.1234del (p.Ala412fs) rs397508181
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.1245C>T (p.Asn415=)
NM_000492.4(CFTR):c.1248T>C (p.Asn416=)
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.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.1275T>C (p.Asp425=) rs1562895009
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) rs2896225
NM_000492.4(CFTR):c.1282C>A (p.Leu428Ile)
NM_000492.4(CFTR):c.1284C>G (p.Leu428=)
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
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>T (p.Phe433=)
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1302A>G (p.Ser434=)
NM_000492.4(CFTR):c.1305T>C (p.Leu435=)
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.1319_1323del (p.Val440fs)
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) 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.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val) rs1584793570
NM_000492.4(CFTR):c.1347A>T (p.Glu449Asp)
NM_000492.4(CFTR):c.1348A>G (p.Arg450Gly)
NM_000492.4(CFTR):c.1349G>T (p.Arg450Ile)
NM_000492.4(CFTR):c.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.1359G>A (p.Leu453=)
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.1367T>C (p.Val456Ala) rs193922500
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.1376C>T (p.Ser459Phe)
NM_000492.4(CFTR):c.1386A>G (p.Ala462=)
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
NM_000492.4(CFTR):c.1392+19A>G
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1392G>A (p.Lys464=)
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1393-3C>A
NM_000492.4(CFTR):c.1395T>C (p.Thr465=)
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1401T>C (p.Leu467=)
NM_000492.4(CFTR):c.1402C>T (p.Leu468=)
NM_000492.4(CFTR):c.1405A>T (p.Met469Leu)
NM_000492.4(CFTR):c.1414A>G (p.Met472Val)
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.4(CFTR):c.1422A>G (p.Glu474=) rs1222883922
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.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.1446dup (p.Lys483Ter) rs397508209
NM_000492.4(CFTR):c.1449G>A (p.Lys483=)
NM_000492.4(CFTR):c.1451A>G (p.His484Arg) rs1427892651
NM_000492.4(CFTR):c.1458A>G (p.Gly486=)
NM_000492.4(CFTR):c.1464T>C (p.Ile488=) rs1799419575
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.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1479G>A (p.Gln493=)
NM_000492.4(CFTR):c.1480T>G (p.Phe494Val)
NM_000492.4(CFTR):c.1484C>A (p.Ser495Tyr)
NM_000492.4(CFTR):c.1484C>G (p.Ser495Cys)
NM_000492.4(CFTR):c.1484C>T (p.Ser495Phe)
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.4(CFTR):c.1492A>G (p.Met498Val) rs1562898400
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.1500C>G (p.Gly500=)
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>T (p.Glu504Ter) rs397508223
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.1524T>C (p.Phe508=)
NM_000492.4(CFTR):c.1528G>A (p.Val510Ile)
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.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.1543T>G (p.Tyr515Asp)
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.1547G>T (p.Arg516Ile)
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
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.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.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.1577T>C (p.Leu526Pro)
NM_000492.4(CFTR):c.157T>C (p.Leu53=)
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
NM_000492.4(CFTR):c.1584+13G>A
NM_000492.4(CFTR):c.1584+5G>C
NM_000492.4(CFTR):c.1585-15T>G
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1595A>G (p.Lys532Arg)
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.1610A>G (p.Asp537Gly)
NM_000492.4(CFTR):c.1611C>T (p.Asp537=)
NM_000492.4(CFTR):c.1612A>C (p.Asn538His)
NM_000492.4(CFTR):c.161A>G (p.Glu54Gly)
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
NM_000492.4(CFTR):c.1629A>G (p.Glu543=)
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>C rs1310634696
NM_000492.4(CFTR):c.164+10delinsATGA
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.164+2T>A rs121908800
NM_000492.4(CFTR):c.164+3A>G
NM_000492.4(CFTR):c.164+5G>C rs2116635341
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.1640C>G (p.Thr547Arg)
NM_000492.4(CFTR):c.1643_1644delinsCT (p.Leu548Pro)
NM_000492.4(CFTR):c.1644G>T (p.Leu548=)
NM_000492.4(CFTR):c.1647T>C (p.Ser549=) rs121909005
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) rs397508247
NM_000492.4(CFTR):c.165-1G>A rs397508249
NM_000492.4(CFTR):c.165-2A>G rs397508250
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1656A>G (p.Gln552=)
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly) rs74597325
NM_000492.4(CFTR):c.1661C>G (p.Ala554Gly)
NM_000492.4(CFTR):c.1662A>G (p.Ala554=)
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.1679+11A>G
NM_000492.4(CFTR):c.1679+17T>C
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-19A>C
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-877G>T rs397508261
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.1690A>G (p.Lys564Glu)
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
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>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.1704G>T (p.Leu568Phe) rs397508275
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.1719T>A (p.Ser573=)
NM_000492.4(CFTR):c.1732C>T (p.Leu578=) rs979121392
NM_000492.4(CFTR):c.1735G>A (p.Asp579Asn)
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.173A>T (p.Asp58Val)
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser) rs397508292
NM_000492.4(CFTR):c.1746A>C (p.Thr582=) rs751058333
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.4(CFTR):c.1759T>A (p.Phe587Ile)
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly) rs397508297
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1766+16A>G rs2116026057
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1766+3A>T rs397508298
NM_000492.4(CFTR):c.1766+79T>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.1773C>T (p.Val591=)
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.4(CFTR):c.1789A>G (p.Asn597Asp)
NM_000492.4(CFTR):c.178G>C (p.Glu60Gln) rs77284892
NM_000492.4(CFTR):c.1797T>C (p.Thr599=)
NM_000492.4(CFTR):c.1801A>G (p.Ile601Val)
NM_000492.4(CFTR):c.1804T>C (p.Leu602=) rs1380798382
NM_000492.4(CFTR):c.1806G>T (p.Leu602Phe)
NM_000492.4(CFTR):c.1807del (p.Val603fs)
NM_000492.4(CFTR):c.180G>A (p.Glu60=)
NM_000492.4(CFTR):c.181C>T (p.Leu61=)
NM_000492.4(CFTR):c.1821G>A (p.Met607Ile)
NM_000492.4(CFTR):c.1824A>G (p.Glu608=) rs2116030297
NM_000492.4(CFTR):c.1828T>C (p.Leu610=)
NM_000492.4(CFTR):c.1844A>G (p.Lys615Arg)
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro) rs1584776330
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1870A>T (p.Ser624Cys)
NM_000492.4(CFTR):c.1881T>C (p.Tyr627=)
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.1897C>A (p.Leu633Ile) rs397508317
NM_000492.4(CFTR):c.1899C>T (p.Leu633=)
NM_000492.4(CFTR):c.1902A>C (p.Gln634His)
NM_000492.4(CFTR):c.1902A>G (p.Gln634=) rs2116030586
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.190A>G (p.Lys64Glu)
NM_000492.4(CFTR):c.1915G>C (p.Asp639His)
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.1937del (p.Gly646fs)
NM_000492.4(CFTR):c.1938A>G (p.Gly646=)
NM_000492.4(CFTR):c.1947T>C (p.Ser649=)
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.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.1967A>G (p.Glu656Gly)
NM_000492.4(CFTR):c.1970G>A (p.Arg657Lys)
NM_000492.4(CFTR):c.1974A>G (p.Arg658=) rs2116031024
NM_000492.4(CFTR):c.1976del (p.Asn659fs) rs121908809
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.1999C>T (p.His667Tyr)
NM_000492.4(CFTR):c.2001C>T (p.His667=) rs772786141
NM_000492.4(CFTR):c.2003G>A (p.Arg668His)
NM_000492.4(CFTR):c.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.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>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.2045C>A (p.Thr682Lys)
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2054A>C (p.Gln685Pro)
NM_000492.4(CFTR):c.2058T>C (p.Ser686=)
NM_000492.4(CFTR):c.2066A>C (p.Gln689Pro)
NM_000492.4(CFTR):c.2067G>A (p.Gln689=)
NM_000492.4(CFTR):c.2070T>C (p.Thr690=)
NM_000492.4(CFTR):c.2075A>T (p.Glu692Val)
NM_000492.4(CFTR):c.2076G>A (p.Glu692=)
NM_000492.4(CFTR):c.2082G>A (p.Gly694=) rs1584812453
NM_000492.4(CFTR):c.2082G>C (p.Gly694=)
NM_000492.4(CFTR):c.2089del (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.2107A>G (p.Asn703Asp)
NM_000492.4(CFTR):c.2108A>C (p.Asn703Thr)
NM_000492.4(CFTR):c.2115C>T (p.Ile705=)
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
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.2136C>T (p.Ser712=)
NM_000492.4(CFTR):c.2137A>G (p.Ile713Val)
NM_000492.4(CFTR):c.2143C>G (p.Gln715Glu)
NM_000492.4(CFTR):c.2145A>G (p.Gln715=)
NM_000492.4(CFTR):c.2151T>C (p.Thr717=)
NM_000492.4(CFTR):c.2152C>T (p.Pro718Ser)
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter) rs397508346
NM_000492.4(CFTR):c.215C>G (p.Ala72Gly)
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.2179G>T (p.Asp727Tyr)
NM_000492.4(CFTR):c.2183C>T (p.Ser728Phe) rs1584812535
NM_000492.4(CFTR):c.2185G>C (p.Asp729His)
NM_000492.4(CFTR):c.2186A>C (p.Asp729Ala)
NM_000492.4(CFTR):c.2187T>C (p.Asp729=)
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.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.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2217A>G (p.Val739=)
NM_000492.4(CFTR):c.2229G>A (p.Glu743=)
NM_000492.4(CFTR):c.2231A>G (p.Gln744Arg)
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.2248C>A (p.Pro750Thr)
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.4(CFTR):c.2254A>C (p.Ile752Leu)
NM_000492.4(CFTR):c.2254A>T (p.Ile752Phe)
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.2281C>A (p.Leu761Ile)
NM_000492.4(CFTR):c.2283T>G (p.Leu761=)
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.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.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.2328A>G (p.Ser776=) rs2116033048
NM_000492.4(CFTR):c.2337del (p.Gly780fs)
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2341C>G (p.Gln781Glu)
NM_000492.4(CFTR):c.2342A>G (p.Gln781Arg)
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
NM_000492.4(CFTR):c.2348T>G (p.Ile783Ser)
NM_000492.4(CFTR):c.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>T (p.Arg785Leu)
NM_000492.4(CFTR):c.2360C>A (p.Thr787Lys) rs2116033185
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.2381T>A (p.Val794Glu)
NM_000492.4(CFTR):c.2387T>A (p.Leu796Gln)
NM_000492.4(CFTR):c.2389G>T (p.Ala797Ser)
NM_000492.4(CFTR):c.2393C>G (p.Pro798Arg)
NM_000492.4(CFTR):c.2395C>A (p.Gln799Lys)
NM_000492.4(CFTR):c.2397G>A (p.Gln799=)
NM_000492.4(CFTR):c.2399C>A (p.Ala800Glu)
NM_000492.4(CFTR):c.239G>C (p.Arg80Thr)
NM_000492.4(CFTR):c.2402A>T (p.Asn801Ile)
NM_000492.4(CFTR):c.2404T>G (p.Leu802Val)
NM_000492.4(CFTR):c.2418T>A (p.Asp806Glu)
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs) rs387906359
NM_000492.4(CFTR):c.2427A>T (p.Ser809=)
NM_000492.4(CFTR):c.2430A>T (p.Arg810Ser)
NM_000492.4(CFTR):c.2434T>C (p.Leu812=)
NM_000492.4(CFTR):c.2436A>G (p.Leu812=)
NM_000492.4(CFTR):c.2439T>C (p.Ser813=) rs2116033726
NM_000492.4(CFTR):c.2446A>C (p.Thr816Pro)
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.2458A>C (p.Ile820Leu)
NM_000492.4(CFTR):c.2458A>G (p.Ile820Val)
NM_000492.4(CFTR):c.2462G>A (p.Ser821Asn)
NM_000492.4(CFTR):c.2470A>G (p.Ile824Val)
NM_000492.4(CFTR):c.2472T>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.2490+11A>G rs1482271794
NM_000492.4(CFTR):c.2490+1G>A rs141158996
NM_000492.4(CFTR):c.2490+4_2490+7del
NM_000492.4(CFTR):c.2496C>T (p.Cys832=) rs397508388
NM_000492.4(CFTR):c.24G>A (p.Lys8=) rs1800071
NM_000492.4(CFTR):c.2503G>T (p.Asp835Tyr)
NM_000492.4(CFTR):c.2515A>G (p.Ser839Gly)
NM_000492.4(CFTR):c.251A>G (p.Tyr84Cys)
NM_000492.4(CFTR):c.2528T>A (p.Val843Glu)
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile) rs1792097477
NM_000492.4(CFTR):c.2532T>G (p.Thr844=)
NM_000492.4(CFTR):c.2533A>C (p.Thr845Pro)
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
NM_000492.4(CFTR):c.2543C>G (p.Thr848Arg)
NM_000492.4(CFTR):c.2547C>T (p.Tyr849=) rs397508394
NM_000492.4(CFTR):c.2549T>G (p.Leu850Arg)
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.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.2570A>G (p.Lys857Arg) rs1584813860
NM_000492.4(CFTR):c.2571G>A (p.Lys857=) rs397508398
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.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.258C>T (p.Ile86=)
NM_000492.4(CFTR):c.2598C>G (p.Cys866Trp)
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.2619+3A>G rs397508408
NM_000492.4(CFTR):c.2620-12G>A
NM_000492.4(CFTR):c.2620-12G>T
NM_000492.4(CFTR):c.2620-2A>G rs1554390859
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.2620G>A (p.Val874Met)
NM_000492.4(CFTR):c.2624C>T (p.Ala875Val)
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>C (p.Val879Ala)
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.264A>G (p.Leu88=)
NM_000492.4(CFTR):c.2657+19A>G
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.2694T>C (p.Ser898=) rs2116061252
NM_000492.4(CFTR):c.2695A>G (p.Arg899Gly)
NM_000492.4(CFTR):c.2700T>C (p.Asn900=)
NM_000492.4(CFTR):c.2702A>T (p.Asn901Ile)
NM_000492.4(CFTR):c.2706C>T (p.Ser902=)
NM_000492.4(CFTR):c.2717T>A (p.Ile906Asn)
NM_000492.4(CFTR):c.2720T>A (p.Ile907Asn)
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
NM_000492.4(CFTR):c.2729C>G (p.Thr910Ser)
NM_000492.4(CFTR):c.273+11C>T
NM_000492.4(CFTR):c.273+13T>C
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.2730C>G (p.Thr910=)
NM_000492.4(CFTR):c.2733T>C (p.Ser911=)
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.274-5T>A rs1454461758
NM_000492.4(CFTR):c.274-9C>A
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.2752A>C (p.Ile918Leu)
NM_000492.4(CFTR):c.2752A>T (p.Ile918Phe) rs1267646551
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn) rs1033530699
NM_000492.4(CFTR):c.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.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>C (p.Val922Leu)
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2770G>C (p.Asp924His) rs201759207
NM_000492.4(CFTR):c.2773A>G (p.Thr925Ala) rs1423162478
NM_000492.4(CFTR):c.2774C>A (p.Thr925Asn)
NM_000492.4(CFTR):c.2774C>G (p.Thr925Ser)
NM_000492.4(CFTR):c.2774C>T (p.Thr925Ile)
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser) rs757410423
NM_000492.4(CFTR):c.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.279C>T (p.Val93=)
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.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.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2819C>T (p.Thr940Ile)
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.2835G>T (p.Ser945=) rs193922513
NM_000492.4(CFTR):c.2836A>C (p.Lys946Gln)
NM_000492.4(CFTR):c.2840T>C (p.Ile947Thr)
NM_000492.4(CFTR):c.2844A>C (p.Leu948Phe)
NM_000492.4(CFTR):c.2848C>T (p.His950Tyr)
NM_000492.4(CFTR):c.2850C>T (p.His950=)
NM_000492.4(CFTR):c.2854A>G (p.Met952Val)
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.2861A>G (p.His954Arg)
NM_000492.4(CFTR):c.2863T>G (p.Ser955Ala) rs1584817978
NM_000492.4(CFTR):c.2880T>C (p.Pro960=)
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.2890C>T (p.Leu964Phe)
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.2906C>G (p.Ala969Gly)
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+14T>G rs2116062569
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2909-11G>A
NM_000492.4(CFTR):c.2909-4A>G rs397508457
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.4(CFTR):c.291A>G (p.Val97=)
NM_000492.4(CFTR):c.2928C>A (p.Phe976Leu)
NM_000492.4(CFTR):c.2933A>G (p.Lys978Arg)
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.2942C>A (p.Ala981Glu)
NM_000492.4(CFTR):c.2951A>T (p.Asp984Val)
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala) rs1031657153
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu) rs1792306616
NM_000492.4(CFTR):c.2970C>T (p.Thr990=)
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
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.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.298C>T (p.Leu100Phe)
NM_000492.4(CFTR):c.2992T>A (p.Leu998Ile) rs2116080345
NM_000492.4(CFTR):c.2994A>C (p.Leu998Phe)
NM_000492.4(CFTR):c.2994A>T (p.Leu998Phe)
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
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.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>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.3014T>C (p.Ile1005Thr)
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3025G>T (p.Ala1009Ser)
NM_000492.4(CFTR):c.3027A>G (p.Ala1009=)
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.3043A>G (p.Ile1015Val)
NM_000492.4(CFTR):c.3045C>A (p.Ile1015=)
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.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.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.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.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.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.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>G (p.Leu1034Arg) rs1792369943
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.310A>G (p.Arg104Gly)
NM_000492.4(CFTR):c.3117A>G (p.Gln1039=)
NM_000492.4(CFTR):c.311G>C (p.Arg104Thr)
NM_000492.4(CFTR):c.3125A>G (p.Gln1042Arg)
NM_000492.4(CFTR):c.312A>G (p.Arg104=) rs2116670032
NM_000492.4(CFTR):c.3139+17G>T
NM_000492.4(CFTR):c.3140-1G>A rs397508506
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.3156C>T (p.Phe1052=)
NM_000492.4(CFTR):c.3161del (p.His1054fs) rs387906377
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.317T>C (p.Ile106Thr)
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.3186A>G (p.Leu1062=)
NM_000492.4(CFTR):c.3186A>T (p.Leu1062=)
NM_000492.4(CFTR):c.3192A>T (p.Thr1064=)
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3210G>A (p.Arg1070=) rs1792388976
NM_000492.4(CFTR):c.3214C>T (p.Pro1072Ser) rs1584822281
NM_000492.4(CFTR):c.3215C>A (p.Pro1072His)
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.3235C>T (p.His1079Tyr)
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.3247A>G (p.Asn1083Asp)
NM_000492.4(CFTR):c.3249T>C (p.Asn1083=)
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.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3266G>T (p.Trp1089Leu)
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter) rs150020260
NM_000492.4(CFTR):c.3270C>G (p.Phe1090Leu)
NM_000492.4(CFTR):c.3273G>A (p.Leu1091=)
NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)
NM_000492.4(CFTR):c.3280T>C (p.Ser1094Pro)
NM_000492.4(CFTR):c.3286C>T (p.Leu1096=)
NM_000492.4(CFTR):c.3288G>T (p.Leu1096=) rs936512397
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.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.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.3303G>A (p.Met1101Ile) rs777445862
NM_000492.4(CFTR):c.3306A>C (p.Arg1102Ser)
NM_000492.4(CFTR):c.3308T>G (p.Ile1103Arg)
NM_000492.4(CFTR):c.330C>T (p.Asp110=)
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter) rs397508538
NM_000492.4(CFTR):c.3322G>A (p.Val1108Ile)
NM_000492.4(CFTR):c.3322del (p.Val1108fs) rs2116085331
NM_000492.4(CFTR):c.3326T>C (p.Ile1109Thr)
NM_000492.4(CFTR):c.3333C>T (p.Phe1111=) rs144135742
NM_000492.4(CFTR):c.3349A>G (p.Ile1117Val)
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3355A>T (p.Ile1119Phe)
NM_000492.4(CFTR):c.3364A>G (p.Thr1122Ala) rs1584822533
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3368-13del
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.3368-4A>G rs748811222
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.3382A>T (p.Arg1128Ter) rs397508549
NM_000492.4(CFTR):c.3385G>A (p.Val1129Ile)
NM_000492.4(CFTR):c.3388G>A (p.Gly1130Ser)
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.4(CFTR):c.3392T>C (p.Ile1131Thr)
NM_000492.4(CFTR):c.3401C>A (p.Thr1134Asn)
NM_000492.4(CFTR):c.3405A>G (p.Leu1135=)
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
NM_000492.4(CFTR):c.3413A>G (p.Asn1138Ser)
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>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.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.3437C>T (p.Ala1146Val)
NM_000492.4(CFTR):c.3447C>A (p.Ser1149=)
NM_000492.4(CFTR):c.3460G>A (p.Asp1154Asn) rs397508568
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
NM_000492.4(CFTR):c.3469-11T>G
NM_000492.4(CFTR):c.3469-3C>A
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.3472C>A (p.Arg1158=) rs79850223
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.4(CFTR):c.3480G>A (p.Val1160=) rs1298788637
NM_000492.4(CFTR):c.3481A>G (p.Ser1161Gly)
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3487G>A (p.Val1163Ile)
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.3504C>T (p.Asp1168=)
NM_000492.4(CFTR):c.3505A>G (p.Met1169Val)
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.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.3527C>G (p.Thr1176Ser)
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3531G>A (p.Lys1177=)
NM_000492.4(CFTR):c.3532T>A (p.Ser1178Thr)
NM_000492.4(CFTR):c.3539_3554del (p.Lys1180fs)
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.354T>A (p.Ser118=)
NM_000492.4(CFTR):c.354T>C (p.Ser118=) rs2116670246
NM_000492.4(CFTR):c.3552T>C (p.Asn1184=)
NM_000492.4(CFTR):c.3559C>A (p.Leu1187Ile)
NM_000492.4(CFTR):c.3559C>G (p.Leu1187Val)
NM_000492.4(CFTR):c.3559C>T (p.Leu1187Phe)
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu) rs1036123285
NM_000492.4(CFTR):c.3568G>A (p.Val1190Ile)
NM_000492.4(CFTR):c.356T>A (p.Ile119Asn)
NM_000492.4(CFTR):c.356T>G (p.Ile119Ser)
NM_000492.4(CFTR):c.3573G>A (p.Met1191Ile) rs1359962349
NM_000492.4(CFTR):c.3578T>C (p.Ile1193Thr)
NM_000492.4(CFTR):c.3585T>A (p.Asn1195Lys)
NM_000492.4(CFTR):c.3588A>G (p.Ser1196=)
NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln)
NM_000492.4(CFTR):c.359C>T (p.Ala120Val) rs1265244783
NM_000492.4(CFTR):c.3600A>T (p.Lys1200Asn)
NM_000492.4(CFTR):c.3605A>G (p.Asp1202Gly)
NM_000492.4(CFTR):c.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>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>T (p.Pro1205=)
NM_000492.4(CFTR):c.3618A>T (p.Ser1206=)
NM_000492.4(CFTR):c.3621G>A (p.Gly1207=)
NM_000492.4(CFTR):c.3621G>T (p.Gly1207=)
NM_000492.4(CFTR):c.3623G>C (p.Gly1208Ala)
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu) rs151264397
NM_000492.4(CFTR):c.3628A>T (p.Met1210Leu)
NM_000492.4(CFTR):c.3636C>G (p.Val1212=)
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.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.3687C>T (p.Asn1229=) rs139322772
NM_000492.4(CFTR):c.3688A>G (p.Ile1230Val)
NM_000492.4(CFTR):c.3690T>C (p.Ile1230=)
NM_000492.4(CFTR):c.3697T>C (p.Ser1233Pro)
NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs)
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3706C>G (p.Pro1236Ala)
NM_000492.4(CFTR):c.3711C>G (p.Gly1237=)
NM_000492.4(CFTR):c.3717+14A>G
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-15A>C
NM_000492.4(CFTR):c.3718-1G>A rs387906369
NM_000492.4(CFTR):c.3718-3T>C
NM_000492.4(CFTR):c.3718G>T (p.Val1240Leu)
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.3726C>G (p.Leu1242=) rs758818517
NM_000492.4(CFTR):c.3727T>C (p.Leu1243=) rs1392953776
NM_000492.4(CFTR):c.3728T>G (p.Leu1243Trp)
NM_000492.4(CFTR):c.372C>T (p.Gly124=) rs1060503162
NM_000492.4(CFTR):c.3738T>C (p.Thr1246=)
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.4(CFTR):c.3740G>T (p.Gly1247Val)
NM_000492.4(CFTR):c.3741A>G (p.Gly1247=)
NM_000492.4(CFTR):c.3747G>A (p.Gly1249=) rs794727373
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) rs797045159
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.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3772T>C (p.Leu1258=) rs202074317
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3779T>C (p.Leu1260Pro)
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala) rs397508609
NM_000492.4(CFTR):c.3782T>G (p.Leu1261Arg)
NM_000492.4(CFTR):c.3783G>C (p.Leu1261=) rs771812900
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.3795del (p.Glu1266fs)
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
NM_000492.4(CFTR):c.379T>C (p.Leu127=) rs2116670348
NM_000492.4(CFTR):c.3800T>A (p.Ile1267Asn)
NM_000492.4(CFTR):c.3801C>A (p.Ile1267=)
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.3811G>A (p.Gly1271Ser)
NM_000492.4(CFTR):c.3815T>G (p.Val1272Gly)
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs) rs397508612
NM_000492.4(CFTR):c.3819T>G (p.Ser1273=)
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.3837G>T (p.Leu1279Phe)
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3842A>C (p.Gln1281Pro)
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3848G>A (p.Arg1283Lys) rs77902683
NM_000492.4(CFTR):c.3849G>A (p.Arg1283=)
NM_000492.4(CFTR):c.3854C>G (p.Ala1285Gly)
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys) rs121909028
NM_000492.4(CFTR):c.3862G>A (p.Val1288Met)
NM_000492.4(CFTR):c.3869C>T (p.Pro1290Leu)
NM_000492.4(CFTR):c.386T>C (p.Leu129Pro)
NM_000492.4(CFTR):c.386T>G (p.Leu129Arg)
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3873+5G>A
NM_000492.4(CFTR):c.3874-27TTC[2] rs397508623
NM_000492.4(CFTR):c.387T>C (p.Leu129=)
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.388C>G (p.Leu130Val) rs397508632
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr) rs397508636
NM_000492.4(CFTR):c.3909C>T (p.Asn1303=)
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.3934G>T (p.Asp1312Tyr) rs1793109904
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.4(CFTR):c.3953T>G (p.Val1318Gly)
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+1G>C rs672601314
NM_000492.4(CFTR):c.3963+1G>T
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.3964-18del
NM_000492.4(CFTR):c.3964G>A (p.Val1322Ile)
NM_000492.4(CFTR):c.396T>C (p.Ile132=)
NM_000492.4(CFTR):c.3972C>T (p.Leu1324=)
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser) rs1793339514
NM_000492.4(CFTR):c.3978T>C (p.Ser1326=)
NM_000492.4(CFTR):c.3980T>C (p.Val1327Ala)
NM_000492.4(CFTR):c.3984A>G (p.Ile1328Met)
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter) rs375661578
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.39C>T (p.Ser13=)
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4007A>C (p.Asp1336Ala)
NM_000492.4(CFTR):c.4009T>A (p.Phe1337Ile)
NM_000492.4(CFTR):c.400A>C (p.Arg134=)
NM_000492.4(CFTR):c.4011T>C (p.Phe1337=)
NM_000492.4(CFTR):c.4019T>A (p.Val1340Glu)
NM_000492.4(CFTR):c.4020G>A (p.Val1340=)
NM_000492.4(CFTR):c.4024G>A (p.Gly1342Arg)
NM_000492.4(CFTR):c.4025G>T (p.Gly1342Val)
NM_000492.4(CFTR):c.4026G>A (p.Gly1342=)
NM_000492.4(CFTR):c.4026G>C (p.Gly1342=) rs1584848821
NM_000492.4(CFTR):c.4034T>C (p.Val1345Ala)
NM_000492.4(CFTR):c.4035C>A (p.Val1345=) rs2116220979
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.4042C>A (p.His1348Asn)
NM_000492.4(CFTR):c.4047C>A (p.Gly1349=)
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
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.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>G (p.Thr135=)
NM_000492.4(CFTR):c.4063T>G (p.Cys1355Gly)
NM_000492.4(CFTR):c.4067T>C (p.Leu1356Ser)
NM_000492.4(CFTR):c.4076C>A (p.Ser1359Tyr)
NM_000492.4(CFTR):c.4076C>G (p.Ser1359Cys)
NM_000492.4(CFTR):c.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.4081C>G (p.Leu1361Val) rs772157232
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>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4098C>T (p.Ile1366=)
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
NM_000492.4(CFTR):c.4108G>C (p.Asp1370His)
NM_000492.4(CFTR):c.4110T>A (p.Asp1370Glu)
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
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.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.4(CFTR):c.4136+3G>A rs1584849002
NM_000492.4(CFTR):c.4136+6T>A rs969884170
NM_000492.4(CFTR):c.4137-12T>C
NM_000492.4(CFTR):c.4139C>T (p.Thr1380Ile)
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.4(CFTR):c.4142A>C (p.Tyr1381Ser)
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>T (p.Ile1383Leu)
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>C (p.Leu1388Pro) rs397508688
NM_000492.4(CFTR):c.4164A>G (p.Leu1388=)
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.4173A>T (p.Ala1391=)
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.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.4200_4201del (p.Cys1400_Glu1401delinsTer) rs397508695
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.4231C>T (p.Gln1411Ter) rs397508701
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.4242+20C>T rs1229413013
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.4243-16A>G rs780125251
NM_000492.4(CFTR):c.4243-3T>C
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.4253A>G (p.Glu1418Gly)
NM_000492.4(CFTR):c.425T>G (p.Ile142Ser)
NM_000492.4(CFTR):c.4261G>C (p.Val1421Leu)
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.4268A>G (p.Gln1423Arg)
NM_000492.4(CFTR):c.4269G>A (p.Gln1423=) rs2116226188
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr) rs762847468
NM_000492.4(CFTR):c.427T>G (p.Phe143Val)
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.4292T>G (p.Leu1431Arg)
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys) rs761669740
NM_000492.4(CFTR):c.4299G>C (p.Glu1433Asp)
NM_000492.4(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.4(CFTR):c.4314G>T (p.Arg1438=)
NM_000492.4(CFTR):c.4319C>G (p.Ala1440Gly)
NM_000492.4(CFTR):c.4323C>G (p.Ile1441Met)
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser) rs1336644939
NM_000492.4(CFTR):c.4328C>T (p.Pro1443Leu)
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.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.4344G>A (p.Lys1448=)
NM_000492.4(CFTR):c.4346T>C (p.Leu1449Pro)
NM_000492.4(CFTR):c.4347C>T (p.Leu1449=)
NM_000492.4(CFTR):c.4357C>A (p.Arg1453=)
NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)
NM_000492.4(CFTR):c.435TCA[1] (p.His147del)
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.4384C>T (p.Pro1462Ser)
NM_000492.4(CFTR):c.4391T>C (p.Ile1464Thr)
NM_000492.4(CFTR):c.4394C>G (p.Ala1465Gly)
NM_000492.4(CFTR):c.4399C>T (p.Leu1467=)
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.441C>T (p.His147=)
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.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.443T>G (p.Ile148Ser)
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.453G>A (p.Gln151=)
NM_000492.4(CFTR):c.466A>G (p.Met156Val)
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.488A>C (p.Lys163Thr) rs1562889435
NM_000492.4(CFTR):c.489+10C>G rs1447914513
NM_000492.4(CFTR):c.490-1G>C
NM_000492.4(CFTR):c.490-9T>A rs2116674841
NM_000492.4(CFTR):c.491C>T (p.Thr164Ile)
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn) rs2116674891
NM_000492.4(CFTR):c.498del (p.Lys166fs)
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.504A>G (p.Ser168=)
NM_000492.4(CFTR):c.506G>A (p.Ser169Asn)
NM_000492.4(CFTR):c.508C>A (p.Arg170Ser) rs578029902
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.516A>G (p.Leu172=)
NM_000492.4(CFTR):c.521A>G (p.Lys174Arg)
NM_000492.4(CFTR):c.528T>C (p.Ser176=) rs1798911676
NM_000492.4(CFTR):c.53+11G>A
NM_000492.4(CFTR):c.53+18C>A
NM_000492.4(CFTR):c.53+2T>C
NM_000492.4(CFTR):c.53+9G>T rs745414764
NM_000492.4(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.539T>C (p.Leu180Pro)
NM_000492.4(CFTR):c.53G>T (p.Ser18Ile)
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.4(CFTR):c.548T>A (p.Leu183His)
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.560A>G (p.Asn187Ser)
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.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.567C>T (p.Asn189=) rs397508755
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.579+4T>C
NM_000492.4(CFTR):c.579+8C>A
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter) rs376008630
NM_000492.4(CFTR):c.582A>T (p.Gly194=)
NM_000492.4(CFTR):c.586G>A (p.Ala196Thr)
NM_000492.4(CFTR):c.586G>C (p.Ala196Pro)
NM_000492.4(CFTR):c.587C>G (p.Ala196Gly)
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.4(CFTR):c.592G>T (p.Ala198Ser)
NM_000492.4(CFTR):c.594A>C (p.Ala198=) rs1481956057
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter) rs397508768
NM_000492.4(CFTR):c.60C>A (p.Thr20=) rs534609552
NM_000492.4(CFTR):c.60C>T (p.Thr20=)
NM_000492.4(CFTR):c.618G>A (p.Leu206=)
NM_000492.4(CFTR):c.619C>A (p.Gln207Lys)
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>T (p.Leu210=) rs1584786975
NM_000492.4(CFTR):c.635T>C (p.Met212Thr)
NM_000492.4(CFTR):c.639G>A (p.Gly213=)
NM_000492.4(CFTR):c.640C>G (p.Leu214Val) rs188457893
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.655T>C (p.Leu219=)
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.663G>T (p.Ala221=)
NM_000492.4(CFTR):c.667G>T (p.Ala223Ser)
NM_000492.4(CFTR):c.670T>C (p.Phe224Leu)
NM_000492.4(CFTR):c.670T>G (p.Phe224Val)
NM_000492.4(CFTR):c.671T>C (p.Phe224Ser)
NM_000492.4(CFTR):c.672C>T (p.Phe224=)
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.682G>A (p.Gly228Ser)
NM_000492.4(CFTR):c.683G>A (p.Gly228Asp)
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.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.711G>C (p.Gln237His) rs397508785
NM_000492.4(CFTR):c.712G>T (p.Ala238Ser)
NM_000492.4(CFTR):c.716G>A (p.Gly239Glu)
NM_000492.4(CFTR):c.717G>A (p.Gly239=)
NM_000492.4(CFTR):c.717G>T (p.Gly239=) rs764661797
NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
NM_000492.4(CFTR):c.723G>A (p.Gly241=)
NM_000492.4(CFTR):c.727A>G (p.Met243Val)
NM_000492.4(CFTR):c.728T>C (p.Met243Thr)
NM_000492.4(CFTR):c.729G>A (p.Met243Ile)
NM_000492.4(CFTR):c.731T>C (p.Met244Thr)
NM_000492.4(CFTR):c.736A>C (p.Lys246Gln)
NM_000492.4(CFTR):c.743+11A>G
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.744A>G (p.Arg248=)
NM_000492.4(CFTR):c.754G>C (p.Ala252Pro)
NM_000492.4(CFTR):c.754G>T (p.Ala252Ser)
NM_000492.4(CFTR):c.756T>C (p.Ala252=)
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg) rs1343896905
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.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.777del (p.Leu259_Val260insTer)
NM_000492.4(CFTR):c.778G>A (p.Val260Met) rs1390016549
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.796A>G (p.Ile266Val)
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.807C>T (p.Ile269=)
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.818A>C (p.Lys273Thr)
NM_000492.4(CFTR):c.819G>A (p.Lys273=)
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.830G>C (p.Trp277Ser)
NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)
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.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.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.865A>G (p.Arg289Gly)
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+1G>C rs1330431481
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.869+9T>C rs1798964448
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000492.4(CFTR):c.870-7_870-5del rs759762840
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.876A>G (p.Glu292=) rs2116683514
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter) rs397508815
NM_000492.4(CFTR):c.891G>A (p.Arg297=)
NM_000492.4(CFTR):c.896C>T (p.Ala299Val)
NM_000492.4(CFTR):c.89A>C (p.Gln30Pro)
NM_000492.4(CFTR):c.901T>C (p.Tyr301His)
NM_000492.4(CFTR):c.905T>A (p.Val302Glu)
NM_000492.4(CFTR):c.905T>C (p.Val302Ala)
NM_000492.4(CFTR):c.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.914T>G (p.Phe305Cys) rs1562892143
NM_000492.4(CFTR):c.915C>G (p.Phe305Leu)
NM_000492.4(CFTR):c.920G>T (p.Ser307Ile)
NM_000492.4(CFTR):c.921C>T (p.Ser307=)
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.932T>C (p.Phe311Ser)
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu) rs121909016
NM_000492.4(CFTR):c.93C>T (p.Arg31=)
NM_000492.4(CFTR):c.941G>C (p.Gly314Ala) rs75763344
NM_000492.4(CFTR):c.947T>C (p.Phe316Ser)
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.949G>A (p.Val317Met)
NM_000492.4(CFTR):c.950T>G (p.Val317Gly)
NM_000492.4(CFTR):c.954G>A (p.Val318=) rs766189605
NM_000492.4(CFTR):c.959del (p.Leu320fs) rs1584789267
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.4(CFTR):c.962C>G (p.Ser321Cys)
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.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.981A>T (p.Leu327=)
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>T (p.Ile332=)

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