ClinVar Miner

List of variants in gene CFTR reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2096
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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.1210-13G>T rs10229820 0.09791
NM_000492.4(CFTR):c.869+11C>T rs1800503 0.07590
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000492.4(CFTR):c.743+40A>G rs1800502 0.03675
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
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.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.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
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.1210-13del rs750294275 0.00222
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
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.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000492.4(CFTR):c.580-92T>A rs117548166 0.00133
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.3718-79T>C rs397508597 0.00096
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
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.3717+45G>A rs145743767 0.00058
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.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.1766+73T>G rs397508299 0.00036
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000492.4(CFTR):c.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.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.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.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.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.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg) rs142432539 0.00011
NM_000492.4(CFTR):c.2620-97C>T rs146376436 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.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.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met) rs397508359 0.00010
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val) rs780187979 0.00010
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro) rs565971160 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.1210-15G>T rs947648829 0.00009
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr) rs143980575 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.2909-6T>C rs369612622 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) rs397508814 0.00009
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430 0.00008
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met) rs576710089 0.00008
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000492.4(CFTR):c.3468+51C>A rs777394766 0.00007
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=) rs1800134 0.00007
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu) rs78742051 0.00007
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.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.3429G>A (p.Leu1143=) rs375845215 0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.3783G>T (p.Leu1261=) rs771812900 0.00006
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) rs146947665 0.00006
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile) rs772774651 0.00006
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro) rs150177304 0.00006
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys) rs397508720 0.00006
NM_000492.4(CFTR):c.489+87A>G rs969399514 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000492.4(CFTR):c.662C>T (p.Ala221Val) rs752432390 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg) rs397508788 0.00006
NM_000492.4(CFTR):c.842T>C (p.Met281Thr) rs397508802 0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) rs112162204 0.00006
NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys) rs373998255 0.00006
NM_000492.4(CFTR):c.1209+12T>A rs748021847 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg) rs375325315 0.00005
NM_000492.4(CFTR):c.1767-16T>C rs200170245 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561 0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val) rs148604667 0.00005
NM_000492.4(CFTR):c.2475C>T (p.Asn825=) rs746961486 0.00005
NM_000492.4(CFTR):c.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.1807G>A (p.Val603Ile) rs143036685 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu) rs397508332 0.00004
NM_000492.4(CFTR):c.2052A>G (p.Lys684=) rs750642366 0.00004
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln) rs141880790 0.00004
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln) rs369040061 0.00004
NM_000492.4(CFTR):c.2490+14G>T rs573016418 0.00004
NM_000492.4(CFTR):c.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.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.3964-28G>A rs397508651 0.00004
NM_000492.4(CFTR):c.4206C>T (p.His1402=) rs368044495 0.00004
NM_000492.4(CFTR):c.454A>T (p.Met152Leu) rs397508721 0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) rs200885306 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=) rs397508155 0.00003
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.1164G>A (p.Thr388=) rs1800088 0.00003
NM_000492.4(CFTR):c.1199T>C (p.Phe400Ser) rs1325574209 0.00003
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu) rs748155731 0.00003
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser) rs777850419 0.00003
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser) rs397508185 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser) rs139054556 0.00003
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr) rs397508210 0.00003
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter) rs397508211 0.00003
NM_000492.4(CFTR):c.147A>G (p.Leu49=) rs140444668 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1500C>A (p.Gly500=) rs762619288 0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys) rs773018372 0.00003
NM_000492.4(CFTR):c.1680-26T>C rs397508265 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.1734A>G (p.Leu578=) rs201025424 0.00003
NM_000492.4(CFTR):c.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.2495G>A (p.Cys832Tyr) rs565589205 0.00003
NM_000492.4(CFTR):c.250T>C (p.Tyr84His) rs745756794 0.00003
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser) rs562851847 0.00003
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe) rs149662778 0.00003
NM_000492.4(CFTR):c.2659A>C (p.Thr887Pro) rs770359007 0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000492.4(CFTR):c.2703C>T (p.Asn901=) rs764201518 0.00003
NM_000492.4(CFTR):c.2736G>A (p.Ser912=) rs200901072 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.274-8T>C rs1186141962 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) rs193922511 0.00003
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu) rs397508443 0.00003
NM_000492.4(CFTR):c.2908+12G>C rs184074547 0.00003
NM_000492.4(CFTR):c.2908+15C>G rs766686188 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) rs373561883 0.00003
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met) rs143120209 0.00003
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu) rs397508567 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln) rs763401376 0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys) rs377295859 0.00003
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val) rs773852510 0.00003
NM_000492.4(CFTR):c.377G>T (p.Gly126Val) rs397508609 0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile) rs769931559 0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311 0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val) rs397508670 0.00003
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=) rs763937782 0.00003
NM_000492.4(CFTR):c.489+8T>G rs727504712 0.00003
NM_000492.4(CFTR):c.511G>A (p.Val171Ile) rs745468219 0.00003
NM_000492.4(CFTR):c.53+4A>T rs372610364 0.00003
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr) rs748026786 0.00003
NM_000492.4(CFTR):c.634A>G (p.Met212Val) rs540269075 0.00003
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter) rs397508777 0.00003
NM_000492.4(CFTR):c.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.1405A>G (p.Met469Val) rs397508203 0.00002
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys) rs138427145 0.00002
NM_000492.4(CFTR):c.1518C>A (p.Ile506=) rs1800092 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) rs374453187 0.00002
NM_000492.4(CFTR):c.1680-13A>G rs757981933 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys) rs755986694 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.2016A>G (p.Glu672=) rs1312105870 0.00002
NM_000492.4(CFTR):c.2184T>G (p.Ser728=) rs779304728 0.00002
NM_000492.4(CFTR):c.2241G>A (p.Ala747=) rs146645194 0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=) rs201888075 0.00002
NM_000492.4(CFTR):c.2262G>C (p.Val754=) rs1201012182 0.00002
NM_000492.4(CFTR):c.2322A>T (p.Thr774=) rs778581398 0.00002
NM_000492.4(CFTR):c.2373A>G (p.Thr791=) rs202115503 0.00002
NM_000492.4(CFTR):c.2490+5G>T rs764466147 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.2568C>T (p.His856=) rs761255045 0.00002
NM_000492.4(CFTR):c.2620-17G>A rs1306021109 0.00002
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala) rs761531223 0.00002
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile) rs752617117 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser) rs185397588 0.00002
NM_000492.4(CFTR):c.2882T>C (p.Met961Thr) rs769377991 0.00002
NM_000492.4(CFTR):c.2908+19G>C rs370683572 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3368-10G>A rs1060504847 0.00002
NM_000492.4(CFTR):c.336T>C (p.Asp112=) rs909596175 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.3627A>G (p.Gln1209=) rs770069168 0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val) rs749662161 0.00002
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp) rs751474685 0.00002
NM_000492.4(CFTR):c.3723C>A (p.Gly1241=) rs185065886 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu) rs752834717 0.00002
NM_000492.4(CFTR):c.3874-7G>A rs776663932 0.00002
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=) rs1800132 0.00002
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793 0.00002
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser) rs747324955 0.00002
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser) rs201686600 0.00002
NM_000492.4(CFTR):c.417C>T (p.His139=) rs760281820 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.589T>C (p.Leu197=) rs755619078 0.00002
NM_000492.4(CFTR):c.609C>T (p.Ile203=) rs1800081 0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_000492.4(CFTR):c.62G>T (p.Arg21Ile) rs777520137 0.00002
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu) rs759726535 0.00002
NM_000492.4(CFTR):c.810A>G (p.Gln270=) rs767312350 0.00002
NM_000492.4(CFTR):c.838G>T (p.Ala280Ser) rs749377803 0.00002
NM_000492.4(CFTR):c.869+8G>T rs773933167 0.00002
NM_000492.4(CFTR):c.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.1003A>G (p.Lys335Glu) rs1431852129 0.00001
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1026C>T (p.Phe342=) rs928312842 0.00001
NM_000492.4(CFTR):c.1036C>T (p.Leu346=) rs575762281 0.00001
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys) rs397508147 0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1081del (p.Trp361fs) rs387906361 0.00001
NM_000492.4(CFTR):c.1117-31A>G rs1554381590 0.00001
NM_000492.4(CFTR):c.1117-7T>C rs745505328 0.00001
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg) rs768589673 0.00001
NM_000492.4(CFTR):c.1137A>C (p.Glu379Asp) rs774308232 0.00001
NM_000492.4(CFTR):c.117A>C (p.Gln39His) rs764522674 0.00001
NM_000492.4(CFTR):c.1209+6A>G rs749054857 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1218G>A (p.Gly406=) rs532798256 0.00001
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) rs766063304 0.00001
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp) rs765791986 0.00001
NM_000492.4(CFTR):c.1315C>A (p.Pro439Thr) rs397508187 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1340A>G (p.Lys447Arg) rs746941790 0.00001
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr) rs748642635 0.00001
NM_000492.4(CFTR):c.1392+10T>C rs1371427830 0.00001
NM_000492.4(CFTR):c.1392+12G>T rs2896226 0.00001
NM_000492.4(CFTR):c.1393-13G>A rs779389972 0.00001
NM_000492.4(CFTR):c.1393-2A>G rs397508201 0.00001
NM_000492.4(CFTR):c.142A>C (p.Asn48His) rs1248202161 0.00001
NM_000492.4(CFTR):c.1430C>A (p.Pro477His) rs886044297 0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) rs754152822 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.1504A>G (p.Ile502Val) rs768243039 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys) rs1554384431 0.00001
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=) rs747504631 0.00001
NM_000492.4(CFTR):c.1557C>T (p.Ser519=) rs757736710 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.15T>C (p.Pro5=) rs751475070 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 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.1711T>C (p.Leu571=) rs774376246 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1732C>G (p.Leu578Val) rs979121392 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1766+8C>G rs1474138131 0.00001
NM_000492.4(CFTR):c.1770T>C (p.Cys590=) rs1277496713 0.00001
NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser) rs754945422 0.00001
NM_000492.4(CFTR):c.1809C>T (p.Val603=) rs777795393 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe) rs1048183757 0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr) rs201978662 0.00001
NM_000492.4(CFTR):c.1845A>G (p.Lys615=) rs1792032957 0.00001
NM_000492.4(CFTR):c.1926A>C (p.Ser642=) rs1554389299 0.00001
NM_000492.4(CFTR):c.1929A>G (p.Lys643=) rs1792035121 0.00001
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met) rs1485998437 0.00001
NM_000492.4(CFTR):c.2028T>C (p.Pro676=) rs751504707 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.2068A>G (p.Thr690Ala) rs780579840 0.00001
NM_000492.4(CFTR):c.2112A>G (p.Pro704=) rs926782023 0.00001
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val) rs745538406 0.00001
NM_000492.4(CFTR):c.2120C>G (p.Ser707Cys) rs1395267446 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2142G>T (p.Val714=) rs1216958032 0.00001
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val) rs200531709 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2219C>T (p.Pro740Leu) rs150772285 0.00001
NM_000492.4(CFTR):c.2220A>G (p.Pro740=) rs1792044298 0.00001
NM_000492.4(CFTR):c.222G>A (p.Arg74=) rs1562884025 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2251C>T (p.Arg751Cys) rs772661780 0.00001
NM_000492.4(CFTR):c.2252G>A (p.Arg751His) rs397508357 0.00001
NM_000492.4(CFTR):c.2253C>T (p.Arg751=) rs760893687 0.00001
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser) rs766541549 0.00001
NM_000492.4(CFTR):c.2280G>A (p.Thr760=) rs138634146 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln) rs1417904716 0.00001
NM_000492.4(CFTR):c.2305G>A (p.Val769Ile) rs1379518832 0.00001
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu) rs397508365 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro) rs1291965190 0.00001
NM_000492.4(CFTR):c.2391C>T (p.Ala797=) rs773521854 0.00001
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe) rs1314080734 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly) rs377447726 0.00001
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser) rs778688276 0.00001
NM_000492.4(CFTR):c.2442A>G (p.Gln814=) rs1366393014 0.00001
NM_000492.4(CFTR):c.2460A>T (p.Ile820=) rs369664216 0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) rs397508378 0.00001
NM_000492.4(CFTR):c.2482G>A (p.Asp828Asn) rs759726447 0.00001
NM_000492.4(CFTR):c.2490+12T>A rs1185896776 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2490+7A>T rs751864459 0.00001
NM_000492.4(CFTR):c.2491-8T>C rs540776134 0.00001
NM_000492.4(CFTR):c.2505T>C (p.Asp835=) rs761043298 0.00001
NM_000492.4(CFTR):c.2526A>G (p.Ala842=) rs758128209 0.00001
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter) rs397508393 0.00001
NM_000492.4(CFTR):c.2544A>T (p.Thr848=) rs751242146 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.2565C>A (p.Val855=) rs1233428222 0.00001
NM_000492.4(CFTR):c.256A>G (p.Ile86Val) rs749432776 0.00001
NM_000492.4(CFTR):c.258C>A (p.Ile86=) rs374992300 0.00001
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser) rs1310658028 0.00001
NM_000492.4(CFTR):c.2619+17G>T rs1439697748 0.00001
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val) rs1472821278 0.00001
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys) rs397508418 0.00001
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly) rs766181463 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2691T>C (p.His897=) rs1792257064 0.00001
NM_000492.4(CFTR):c.2708A>G (p.Tyr903Cys) rs147297080 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.274-13T>C rs1021474992 0.00001
NM_000492.4(CFTR):c.2742T>C (p.Tyr914=) rs769879940 0.00001
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu) rs770502501 0.00001
NM_000492.4(CFTR):c.2751C>T (p.Tyr917=) rs1274886789 0.00001
NM_000492.4(CFTR):c.2757C>T (p.Tyr919=) rs1408746819 0.00001
NM_000492.4(CFTR):c.2766A>G (p.Val922=) rs762906556 0.00001
NM_000492.4(CFTR):c.2778G>T (p.Leu926Phe) rs767910302 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.27C>T (p.Ala9=) rs1255831708 0.00001
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser) rs750655055 0.00001
NM_000492.4(CFTR):c.2810dup (p.Val938fs) rs193922510 0.00001
NM_000492.4(CFTR):c.2831T>C (p.Val944Ala) rs141747560 0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) rs193922513 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.2860C>T (p.His954Tyr) rs779528411 0.00001
NM_000492.4(CFTR):c.2908+4C>A rs372266030 0.00001
NM_000492.4(CFTR):c.2909-9A>G rs778526355 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.2929T>G (p.Ser977Ala) rs137975784 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.2931C>T (p.Ser977=) rs1333735364 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met) rs748430234 0.00001
NM_000492.4(CFTR):c.294G>A (p.Gln98=) rs1225964754 0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) rs397508467 0.00001
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met) rs370181570 0.00001
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys) rs397508469 0.00001
NM_000492.4(CFTR):c.2988+13A>T rs1182945291 0.00001
NM_000492.4(CFTR):c.2988+20G>A rs183819332 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.300C>G (p.Leu100=) rs1206224160 0.00001
NM_000492.4(CFTR):c.333G>A (p.Pro111=) rs776878618 0.00001
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly) rs770241677 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3375A>G (p.Gly1125=) rs751140170 0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly) rs397508549 0.00001
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr) rs755968404 0.00001
NM_000492.4(CFTR):c.3418A>G (p.Met1140Val) rs774415786 0.00001
NM_000492.4(CFTR):c.3441A>G (p.Val1147=) rs375687401 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000492.4(CFTR):c.3488T>G (p.Val1163Gly) rs776696255 0.00001
NM_000492.4(CFTR):c.3511A>G (p.Thr1171Ala) rs778797502 0.00001
NM_000492.4(CFTR):c.3562T>C (p.Ser1188Pro) rs762167681 0.00001
NM_000492.4(CFTR):c.357C>T (p.Ile119=) rs1264742569 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000492.4(CFTR):c.3591C>T (p.His1197=) rs1393226501 0.00001
NM_000492.4(CFTR):c.3603T>C (p.Asp1201=) rs1399548884 0.00001
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395 0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765 0.00001
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666 0.00001
NM_000492.4(CFTR):c.3642T>A (p.Asp1214Glu) rs1584830230 0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) rs121908811 0.00001
NM_000492.4(CFTR):c.3667G>A (p.Gly1223Arg) rs1320914611 0.00001
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val) rs770358073 0.00001
NM_000492.4(CFTR):c.3681A>G (p.Leu1227=) rs943312470 0.00001
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg) rs397508594 0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3718-16C>T rs1311755783 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3744del (p.Lys1250fs) rs121908784 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 0.00001
NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe) rs768411899 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.3780A>G (p.Leu1260=) rs112339787 0.00001
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg) rs766370233 0.00001
NM_000492.4(CFTR):c.3808del (p.Asp1270fs) rs763843966 0.00001
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616 0.00001
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr) rs397508619 0.00001
NM_000492.4(CFTR):c.3873+15T>G rs200482114 0.00001
NM_000492.4(CFTR):c.3873+7A>T rs752993761 0.00001
NM_000492.4(CFTR):c.3873+9A>G rs763211778 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.3874-14C>G rs184271150 0.00001
NM_000492.4(CFTR):c.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.3963+6G>T rs1793110791 0.00001
NM_000492.4(CFTR):c.3963+9G>A rs370196195 0.00001
NM_000492.4(CFTR):c.3964-6C>T rs1357128849 0.00001
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=) rs886061952 0.00001
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln) rs1313341594 0.00001
NM_000492.4(CFTR):c.403A>T (p.Thr135Ser) rs771512600 0.00001
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe) rs755028771 0.00001
NM_000492.4(CFTR):c.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.4107T>C (p.Leu1369=) rs772750690 0.00001
NM_000492.4(CFTR):c.4109A>G (p.Asp1370Gly) rs766124395 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4110T>C (p.Asp1370=) rs1793345654 0.00001
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu) rs397508677 0.00001
NM_000492.4(CFTR):c.4136+12A>G rs777853603 0.00001
NM_000492.4(CFTR):c.4137-4C>A rs766178879 0.00001
NM_000492.4(CFTR):c.4137-7T>C rs1400171855 0.00001
NM_000492.4(CFTR):c.413T>C (p.Leu138Pro) rs1800078 0.00001
NM_000492.4(CFTR):c.4142A>G (p.Tyr1381Cys) rs776388660 0.00001
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=) rs397508683 0.00001
NM_000492.4(CFTR):c.4159A>G (p.Thr1387Ala) rs1455404428 0.00001
NM_000492.4(CFTR):c.416A>C (p.His139Pro) rs76371115 0.00001
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro) rs375552160 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly) rs970498675 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4230C>G (p.Cys1410Trp) rs1165501753 0.00001
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu) rs142092183 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.4242+8T>C rs1258671235 0.00001
NM_000492.4(CFTR):c.441C>G (p.His147Gln) rs759310470 0.00001
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys) rs149197463 0.00001
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr) rs397508725 0.00001
NM_000492.4(CFTR):c.475T>C (p.Leu159=) rs769183771 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.489+25A>G rs531830892 0.00001
NM_000492.4(CFTR):c.489+5T>C rs1453085631 0.00001
NM_000492.4(CFTR):c.489+7C>T rs770608125 0.00001
NM_000492.4(CFTR):c.490-7C>A rs374318903 0.00001
NM_000492.4(CFTR):c.49T>C (p.Phe17Leu) rs779256353 0.00001
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe) rs1267579802 0.00001
NM_000492.4(CFTR):c.537A>G (p.Gln179=) rs991635265 0.00001
NM_000492.4(CFTR):c.538C>G (p.Leu180Val) rs374163420 0.00001
NM_000492.4(CFTR):c.54-8T>A rs778197563 0.00001
NM_000492.4(CFTR):c.579+34A>G rs148209839 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.580-2A>G rs193922730 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.588A>G (p.Ala196=) rs749896021 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.612T>G (p.Ala204=) rs369247323 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser) rs397508772 0.00001
NM_000492.4(CFTR):c.640C>T (p.Leu214=) rs188457893 0.00001
NM_000492.4(CFTR):c.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.744-15T>C rs369149477 0.00001
NM_000492.4(CFTR):c.744-6T>G rs878854022 0.00001
NM_000492.4(CFTR):c.801A>G (p.Glu267=) rs1394905892 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.841A>G (p.Met281Val) rs755215339 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter) rs397508808 0.00001
NM_000492.4(CFTR):c.869+25A>G rs1554380840 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000492.4(CFTR):c.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.93C>A (p.Arg31=) rs766315026 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000492.4(CFTR):c.942G>T (p.Gly314=) rs1244183935 0.00001
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser) rs760319837 0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met) rs776797377 0.00001
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe) rs56093012 0.00001
NM_000492.4(CFTR):c.972C>G (p.Pro324=) rs1799834 0.00001
NM_000492.4(CFTR):c.978A>G (p.Ala326=) rs757622174 0.00001
NM_000492.4(CFTR):c.979C>T (p.Leu327=) rs1360839108 0.00001
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg) rs141115171 0.00001
NC_000007.13:g.(?_117118376)_(117307162_?)dup
NC_000007.13:g.(?_117120136)_(117199729_?)del
NC_000007.13:g.(?_117120137)_(117173634_?)del
NC_000007.13:g.(?_117144294)_(117254777_?)dup
NC_000007.13:g.(?_117170943)_(117171255_?)del
NC_000007.13:g.(?_117170943)_(117182242_?)del
NC_000007.13:g.(?_117170943)_(117243859_?)dup
NC_000007.13:g.(?_117174320)_(117176752_?)del
NC_000007.13:g.(?_117176588)_(117176752_?)del
NC_000007.13:g.(?_117199476)_(117199720_?)del
NC_000007.13:g.(?_117199476)_(117280016_?)dup
NC_000007.13:g.(?_117199498)_(117199729_?)dup
NC_000007.13:g.(?_117218381)_(117254777_?)del
NC_000007.13:g.(?_117227774)_(117227921_?)del
NC_000007.13:g.(?_117234961)_(117235122_?)del
NC_000007.13:g.(?_117234964)_(117267864_?)dup
NC_000007.13:g.(?_117246713)_(117251872_?)del
NC_000007.13:g.(?_117254648)_(117254777_?)del
NC_000007.13:g.(?_117266272)_(117292995_?)del
NC_000007.13:g.(?_117267556)_(117267869_?)del
NC_000007.13:g.(?_117267556)_(117267869_?)dup
NC_000007.13:g.(?_117267556)_(117307162_?)dup
NC_000007.13:g.(?_117267566)_(117267869_?)dup
NC_000007.13:g.(?_117280015)_(117307162_?)dup
NC_000007.13:g.(?_117282468)_(117288374_?)del
NC_000007.13:g.(?_117292849)_(117307162_?)dup
NC_000007.13:g.(?_117304664)_(117306195_?)del
NC_000007.13:g.(?_117304722)_(117305638_?)del
NC_000007.13:g.(?_117304722)_(117307162_?)dup
NC_000007.13:g.117188661_117188689=
NC_000007.13:g.117243773_117243774insLINE
NC_000007.14:g.(?_117478787)_(117480271_?)del
NC_000007.14:g.(?_117504233)_(117504391_?)del
NC_000007.14:g.(?_117504240)_(117509152_?)del
NC_000007.14:g.(?_117504240)_(117531201_?)del
NC_000007.14:g.(?_117509024)_(117509152_?)dup
NC_000007.14:g.(?_117530879)_(117535431_?)del
NC_000007.14:g.(?_117530889)_(117540356_?)del
NC_000007.14:g.(?_117548631)_(117548835_?)del
NC_000007.14:g.(?_117587720)_(117614723_?)del
NC_000007.14:g.(?_117602729)_(117611828_?)del
NC_000007.14:g.(?_117602793)_(117611818_?)del
NC_000007.14:g.(?_117606659)_(117606786_?)del
NC_000007.14:g.(?_117606659)_(117614723_?)dup
NC_000007.14:g.(?_117610509)_(117611818_?)del
NC_000007.14:g.(?_117614593)_(117614733_?)del
NC_000007.14:g.(?_117614603)_(117614764_?)del
NC_000007.14:g.(?_117664660)_(117665584_?)del
NC_000007.14:g.(?_117664678)_(117665574_?)del
NC_000007.14:g.(?_117664682)_(117665570_?)del
NC_000007.14:g.117530899del
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-17_1210-12del rs3832534
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs) rs1554391033
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.3(CFTR):c.3376_3381delGAAGGA rs1554392764
NM_000492.3(CFTR):c.3965_3969dup rs1209386423
NM_000492.3(CFTR):c.744-?_1584+?dup
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.1009T>C (p.Phe337Leu) rs771716655
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1011C>G (p.Phe337Leu) rs1799029121
NM_000492.4(CFTR):c.1012_1013del (p.Thr338fs)
NM_000492.4(CFTR):c.1016C>A (p.Thr339Asn)
NM_000492.4(CFTR):c.1017C>T (p.Thr339=) rs1359708278
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.1032T>C (p.Ile344=)
NM_000492.4(CFTR):c.1038G>A (p.Leu346=) rs2116684331
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.4(CFTR):c.1041C>G (p.Arg347=) rs2116684356
NM_000492.4(CFTR):c.1047G>T (p.Ala349=) rs200520623
NM_000492.4(CFTR):c.1051A>G (p.Thr351Ala) rs1799031080
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1059A>G (p.Gln353=) rs1800087
NM_000492.4(CFTR):c.105A>C (p.Ser35=) rs2116635193
NM_000492.4(CFTR):c.1064C>T (p.Pro355Leu)
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
NM_000492.4(CFTR):c.1074A>G (p.Val358=) rs200708728
NM_000492.4(CFTR):c.1077A>G (p.Gln359=) rs761324191
NM_000492.4(CFTR):c.1078del (p.Thr360fs)
NM_000492.4(CFTR):c.1079C>T (p.Thr360Ile)
NM_000492.4(CFTR):c.1080A>G (p.Thr360=) rs201246833
NM_000492.4(CFTR):c.1083del (p.Trp361fs) rs387906375
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
NM_000492.4(CFTR):c.1092T>A (p.Ser364=) rs1584789482
NM_000492.4(CFTR):c.109A>G (p.Ile37Val) rs759721412
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg) rs1799033866
NM_000492.4(CFTR):c.1116+12T>G
NM_000492.4(CFTR):c.1116+15T>A
NM_000492.4(CFTR):c.1116+18T>C
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1116+1G>C rs397508158
NM_000492.4(CFTR):c.1116+2T>C
NM_000492.4(CFTR):c.1116+6G>A
NM_000492.4(CFTR):c.1116+7T>C rs200659687
NM_000492.4(CFTR):c.1117-12T>C
NM_000492.4(CFTR):c.1117-15C>G
NM_000492.4(CFTR):c.1117-17C>T
NM_000492.4(CFTR):c.1117-1G>A rs797045160
NM_000492.4(CFTR):c.1117-26_1117-25del rs397508159
NM_000492.4(CFTR):c.1117-64G>A
NM_000492.4(CFTR):c.1117-64G>C
NM_000492.4(CFTR):c.1117-6A>G
NM_000492.4(CFTR):c.1117-8A>G rs897417102
NM_000492.4(CFTR):c.1117-9T>C
NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys) rs1562892823
NM_000492.4(CFTR):c.1130dup (p.Gln378fs) rs397508163
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
NM_000492.4(CFTR):c.1146A>G (p.Thr382=)
NM_000492.4(CFTR):c.1146A>T (p.Thr382=)
NM_000492.4(CFTR):c.1147T>C (p.Leu383=)
NM_000492.4(CFTR):c.114C>T (p.Tyr38=)
NM_000492.4(CFTR):c.1153T>A (p.Tyr385Asn)
NM_000492.4(CFTR):c.1153T>C (p.Tyr385His) rs1799062001
NM_000492.4(CFTR):c.1154A>G (p.Tyr385Cys) rs1799062053
NM_000492.4(CFTR):c.1155T>A (p.Tyr385Ter)
NM_000492.4(CFTR):c.1155T>C (p.Tyr385=)
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.1159T>C (p.Leu387=) rs2115882338
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
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.1167T>C (p.Thr389=) rs2115882403
NM_000492.4(CFTR):c.116A>C (p.Gln39Pro)
NM_000492.4(CFTR):c.1170A>C (p.Thr390=) rs2115882431
NM_000492.4(CFTR):c.1170A>G (p.Thr390=)
NM_000492.4(CFTR):c.1171_1209+6del
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.1177del (p.Val392_Val393insTer) rs397508171
NM_000492.4(CFTR):c.1178T>G (p.Val393Gly) rs1799062903
NM_000492.4(CFTR):c.117A>T (p.Gln39His) rs764522674
NM_000492.4(CFTR):c.1189G>C (p.Val397Leu) rs1225700054
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.1203G>A (p.Trp401Ter) rs397508175
NM_000492.4(CFTR):c.1209+10T>C
NM_000492.4(CFTR):c.1209+11T>C
NM_000492.4(CFTR):c.1209+13A>T
NM_000492.4(CFTR):c.1209+15A>G
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1209+18dup
NM_000492.4(CFTR):c.1209+1G>A rs397508176
NM_000492.4(CFTR):c.1209+1G>C
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1209+80G>A rs948980243
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_1210-9delinsG rs2115902456
NM_000492.4(CFTR):c.1210-11delinsGTG rs1584793368
NM_000492.4(CFTR):c.1210-12_1210-11insGTG rs4148705
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTT rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTTT rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTT rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTTT rs756031917
NM_000492.4(CFTR):c.1210-13_1210-10del rs765376630
NM_000492.4(CFTR):c.1210-13_1210-11del rs2115902247
NM_000492.4(CFTR):c.1210-13_1210-8del rs1399483116
NM_000492.4(CFTR):c.1210-14_1210-13insTT
NM_000492.4(CFTR):c.1210-15_1210-10del rs2115902212
NM_000492.4(CFTR):c.1210-15_1210-13delinsT rs1584793324
NM_000492.4(CFTR):c.1210-17G>T
NM_000492.4(CFTR):c.1210-17_1210-10del rs1799207704
NM_000492.4(CFTR):c.1210-17_1210-11del rs2115902199
NM_000492.4(CFTR):c.1210-19G>A
NM_000492.4(CFTR):c.1210-30T>G
NM_000492.4(CFTR):c.1210-34TG[10] rs3832534
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000492.4(CFTR):c.1210-34TG[13] rs3832534
NM_000492.4(CFTR):c.1210-34TG[9] rs3832534
NM_000492.4(CFTR):c.1210-6dup rs1805177
NM_000492.4(CFTR):c.1210G>A (p.Gly404Arg)
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val) rs1324302547
NM_000492.4(CFTR):c.1212A>T (p.Gly404=)
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu) rs559197407
NM_000492.4(CFTR):c.1221A>G (p.Glu407=) rs2115902714
NM_000492.4(CFTR):c.1222T>C (p.Leu408=)
NM_000492.4(CFTR):c.1224_1227del (p.Phe409fs)
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.123T>C (p.Pro41=) rs1798379857
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.4(CFTR):c.1243A>G (p.Asn415Asp)
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer) rs397508184
NM_000492.4(CFTR):c.1245C>T (p.Asn415=)
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.1261dup (p.Thr421fs) rs2115903081
NM_000492.4(CFTR):c.1269T>A (p.Asn423Lys) rs376039579
NM_000492.4(CFTR):c.1269T>C (p.Asn423=) rs376039579
NM_000492.4(CFTR):c.1272T>C (p.Gly424=) rs2115903186
NM_000492.4(CFTR):c.1272T>G (p.Gly424=)
NM_000492.4(CFTR):c.1275T>C (p.Asp425=) rs1562895009
NM_000492.4(CFTR):c.1277A>G (p.Asp426Gly)
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) rs2896225
NM_000492.4(CFTR):c.1282C>G (p.Leu428Val)
NM_000492.4(CFTR):c.1283T>A (p.Leu428His) rs2115903258
NM_000492.4(CFTR):c.1284C>G (p.Leu428=)
NM_000492.4(CFTR):c.1287C>A (p.Phe429Leu) rs763577850
NM_000492.4(CFTR):c.1290del (p.Phe430fs)
NM_000492.4(CFTR):c.1296T>C (p.Asn432=)
NM_000492.4(CFTR):c.1299C>A (p.Phe433Leu) rs11531593
NM_000492.4(CFTR):c.1299C>T (p.Phe433=)
NM_000492.4(CFTR):c.12G>T (p.Ser4=) rs1158877973
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs) rs397508186
NM_000492.4(CFTR):c.1303C>G (p.Leu435Val)
NM_000492.4(CFTR):c.1304T>C (p.Leu435Pro)
NM_000492.4(CFTR):c.1305T>C (p.Leu435=)
NM_000492.4(CFTR):c.1308T>G (p.Leu436=)
NM_000492.4(CFTR):c.1311T>C (p.Gly437=) rs1562895049
NM_000492.4(CFTR):c.1317T>C (p.Pro439=) rs1562895052
NM_000492.4(CFTR):c.131A>T (p.Asp44Val)
NM_000492.4(CFTR):c.1324A>T (p.Lys442Ter) rs1584793546
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1328A>T (p.Asp443Val)
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer) rs397508190
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met) rs1799214404
NM_000492.4(CFTR):c.1334del (p.Asn445fs) rs2115903565
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1341G>A (p.Lys447=)
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val) rs1584793570
NM_000492.4(CFTR):c.1346A>G (p.Glu449Gly)
NM_000492.4(CFTR):c.1347A>T (p.Glu449Asp)
NM_000492.4(CFTR):c.1347_1350del (p.Arg450fs) rs1562895104
NM_000492.4(CFTR):c.1353A>G (p.Gly451=) rs1220983447
NM_000492.4(CFTR):c.135T>A (p.Ser45=)
NM_000492.4(CFTR):c.135T>G (p.Ser45=)
NM_000492.4(CFTR):c.1362G>A (p.Leu454=)
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs) rs797045161
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1371T>G (p.Ala457=)
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr) rs1799216405
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
NM_000492.4(CFTR):c.1392+11T>C
NM_000492.4(CFTR):c.1392+11del
NM_000492.4(CFTR):c.1392+12del
NM_000492.4(CFTR):c.1392+14T>G
NM_000492.4(CFTR):c.1392+15C>G
NM_000492.4(CFTR):c.1392+16T>A
NM_000492.4(CFTR):c.1392+19A>G
NM_000492.4(CFTR):c.1392+19A>T
NM_000492.4(CFTR):c.1392+7C>T
NM_000492.4(CFTR):c.1392+9T>C
NM_000492.4(CFTR):c.1393-18G>A rs397508199
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1393-20A>G
NM_000492.4(CFTR):c.1393-26_1393-16del
NM_000492.4(CFTR):c.1393-3C>A
NM_000492.4(CFTR):c.1393-4C>A rs1799416194
NM_000492.4(CFTR):c.1393-4C>G rs1799416194
NM_000492.4(CFTR):c.1393-4C>T
NM_000492.4(CFTR):c.1393-6T>C rs966524603
NM_000492.4(CFTR):c.1393-8A>T rs2115937364
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
NM_000492.4(CFTR):c.1417G>A (p.Gly473Arg) rs1799417518
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.1420G>C (p.Glu474Gln)
NM_000492.4(CFTR):c.1420G>T (p.Glu474Ter) rs756206533
NM_000492.4(CFTR):c.1422A>G (p.Glu474=) rs1222883922
NM_000492.4(CFTR):c.1423C>G (p.Leu475Val)
NM_000492.4(CFTR):c.1423C>T (p.Leu475=)
NM_000492.4(CFTR):c.1428G>A (p.Glu476=)
NM_000492.4(CFTR):c.142_145del (p.Asn48fs)
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu) rs886044297
NM_000492.4(CFTR):c.1437G>A (p.Glu479=) rs754152822
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1441A>G (p.Lys481Glu)
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val) rs1799418782
NM_000492.4(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.4(CFTR):c.1451A>G (p.His484Arg) rs1427892651
NM_000492.4(CFTR):c.1452C>T (p.His484=)
NM_000492.4(CFTR):c.1455T>C (p.Ser485=)
NM_000492.4(CFTR):c.1458A>G (p.Gly486=)
NM_000492.4(CFTR):c.1464T>C (p.Ile488=) rs1799419575
NM_000492.4(CFTR):c.1464_1476del (p.Cys491fs) rs2115937867
NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs) rs2115937855
NM_000492.4(CFTR):c.1467A>G (p.Ser489=) rs1799419729
NM_000492.4(CFTR):c.1469del (p.Phe490fs) rs775663783
NM_000492.4(CFTR):c.1470C>T (p.Phe490=) rs1799420001
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.4(CFTR):c.147A>C (p.Leu49=)
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
NM_000492.4(CFTR):c.1484C>G (p.Ser495Cys)
NM_000492.4(CFTR):c.1485C>G (p.Ser495=)
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro) rs397508217
NM_000492.4(CFTR):c.1493T>C (p.Met498Thr)
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser) rs397508219
NM_000492.4(CFTR):c.1496C>T (p.Pro499Leu) rs1584798328
NM_000492.4(CFTR):c.14C>G (p.Pro5Arg)
NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile) rs1799421850
NM_000492.4(CFTR):c.1503C>T (p.Thr501=)
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.1515T>C (p.Asn505=)
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe) rs1801178
NM_000492.4(CFTR):c.1528G>T (p.Val510Phe) rs752955846
NM_000492.4(CFTR):c.1535A>G (p.Tyr512Cys) rs1048256995
NM_000492.4(CFTR):c.1536T>C (p.Tyr512=) rs2115938553
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1539T>C (p.Asp513=)
NM_000492.4(CFTR):c.1542A>G (p.Glu514=)
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs) rs1301983423
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.4(CFTR):c.154A>T (p.Lys52Ter)
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.4(CFTR):c.1560C>T (p.Val520=) rs768151081
NM_000492.4(CFTR):c.156del (p.Lys52fs) rs1346705436
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter) rs397508227
NM_000492.4(CFTR):c.1573del (p.Gln525fs) rs774433839
NM_000492.4(CFTR):c.1576C>T (p.Leu526=)
NM_000492.4(CFTR):c.1584+10T>G
NM_000492.4(CFTR):c.1584+15G>T
NM_000492.4(CFTR):c.1584+18A>C
NM_000492.4(CFTR):c.1584+19del
NM_000492.4(CFTR):c.1584+1G>T rs397508230
NM_000492.4(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.4(CFTR):c.1584+9C>T rs2115939119
NM_000492.4(CFTR):c.159G>A (p.Leu53=) rs2116635315
NM_000492.4(CFTR):c.15del (p.Leu6fs)
NM_000492.4(CFTR):c.161A>C (p.Glu54Ala)
NM_000492.4(CFTR):c.164+10T>A rs1310634696
NM_000492.4(CFTR):c.164+10T>C rs1310634696
NM_000492.4(CFTR):c.164+14C>G
NM_000492.4(CFTR):c.164+15A>G
NM_000492.4(CFTR):c.164+16T>C
NM_000492.4(CFTR):c.164+18G>A
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.164+2T>C rs121908800
NM_000492.4(CFTR):c.164+3A>G
NM_000492.4(CFTR):c.164+6T>C
NM_000492.4(CFTR):c.164+9A>G
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.164+9_164+10insATG rs1798381614
NM_000492.4(CFTR):c.164G>A (p.Arg55Lys)
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-20A>C
NM_000492.4(CFTR):c.1680-871_1680-870delinsGA rs727504811
NM_000492.4(CFTR):c.1680-877G>A rs397508261
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680-9T>C rs1252191433
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.1689C>A (p.Tyr563Ter)
NM_000492.4(CFTR):c.1690A>G (p.Lys564Glu)
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.4(CFTR):c.1693G>T (p.Asp565Tyr)
NM_000492.4(CFTR):c.16C>T (p.Leu6=) rs1554373095
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.4(CFTR):c.1704G>A (p.Leu568=) rs397508275
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His) rs397508276
NM_000492.4(CFTR):c.1709del (p.Leu570fs)
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn) rs397508282
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly) rs1792007322
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser) rs397508283
NM_000492.4(CFTR):c.1722T>A (p.Pro574=)
NM_000492.4(CFTR):c.1732C>T (p.Leu578=) rs979121392
NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)
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.1743A>T (p.Leu581Phe)
NM_000492.4(CFTR):c.1746A>C (p.Thr582=) rs751058333
NM_000492.4(CFTR):c.1746A>G (p.Thr582=)
NM_000492.4(CFTR):c.1749A>G (p.Glu583=) rs2116025833
NM_000492.4(CFTR):c.1758A>T (p.Ile586=) rs1462572352
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly) rs397508297
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg) rs917625450
NM_000492.4(CFTR):c.1766+10T>C
NM_000492.4(CFTR):c.1766+11del rs754798684
NM_000492.4(CFTR):c.1766+16A>G rs2116026057
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1766+3A>C rs397508298
NM_000492.4(CFTR):c.1766+7T>A
NM_000492.4(CFTR):c.1766+8C>T rs1474138131
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile) rs397508300
NM_000492.4(CFTR):c.1767-11A>G
NM_000492.4(CFTR):c.1767-12del
NM_000492.4(CFTR):c.1767-13T>G rs2116029937
NM_000492.4(CFTR):c.1767-19A>G
NM_000492.4(CFTR):c.1767-4A>G rs2116029980
NM_000492.4(CFTR):c.1767-7C>T rs2116029974
NM_000492.4(CFTR):c.1767-9A>G rs1223678085
NM_000492.4(CFTR):c.1769G>A (p.Cys590Tyr) rs1347776232
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
NM_000492.4(CFTR):c.1779A>G (p.Lys593=) rs1217712466
NM_000492.4(CFTR):c.1780C>T (p.Leu594=)
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.4(CFTR):c.1782G>T (p.Leu594=) rs2116030062
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs) rs397508303
NM_000492.4(CFTR):c.1804T>C (p.Leu602=) rs1380798382
NM_000492.4(CFTR):c.1810A>C (p.Thr604Pro) rs1554389267
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1811del (p.Thr604fs)
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1824A>G (p.Glu608=) rs2116030297
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.4(CFTR):c.1828T>C (p.Leu610=)
NM_000492.4(CFTR):c.1840G>A (p.Asp614Asn) rs397508312
NM_000492.4(CFTR):c.1846A>G (p.Ile616Val)
NM_000492.4(CFTR):c.1848A>G (p.Ile616Met)
NM_000492.4(CFTR):c.1860T>C (p.His620=) rs397508315
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1863A>G (p.Glu621=)
NM_000492.4(CFTR):c.1867dup (p.Ser623fs)
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
NM_000492.4(CFTR):c.1874A>C (p.Tyr625Ser)
NM_000492.4(CFTR):c.1875T>C (p.Tyr625=)
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.4(CFTR):c.1902A>G (p.Gln634=) rs2116030586
NM_000492.4(CFTR):c.1904del (p.Asn635fs) rs1381239923
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys) rs397508320
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter) rs397508320
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.1920T>G (p.Phe640Leu)
NM_000492.4(CFTR):c.1936G>A (p.Gly646Arg) rs1562907873
NM_000492.4(CFTR):c.1938A>G (p.Gly646=)
NM_000492.4(CFTR):c.1941T>C (p.Cys647=)
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.1953C>T (p.Asp651=)
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.1966G>C (p.Glu656Gln)
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp) rs1060503163
NM_000492.4(CFTR):c.1974A>G (p.Arg658=) rs2116031024
NM_000492.4(CFTR):c.1976del (p.Asn659fs) rs121908809
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val) rs777973729
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.4(CFTR):c.1990G>C (p.Glu664Gln)
NM_000492.4(CFTR):c.1992G>T (p.Glu664Asp) rs1792036683
NM_000492.4(CFTR):c.1995C>A (p.Thr665=)
NM_000492.4(CFTR):c.2001C>T (p.His667=) rs772786141
NM_000492.4(CFTR):c.2005T>C (p.Phe669Leu) rs2116031296
NM_000492.4(CFTR):c.2007C>T (p.Phe669=) rs958140362
NM_000492.4(CFTR):c.2009C>T (p.Ser670Leu)
NM_000492.4(CFTR):c.2012T>A (p.Leu671Ter) rs2116031354
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2014G>A (p.Glu672Lys)
NM_000492.4(CFTR):c.2015_2017del (p.Glu672del) rs397508330
NM_000492.4(CFTR):c.2017G>A (p.Gly673Arg)
NM_000492.4(CFTR):c.2019A>G (p.Gly673=) rs2116031424
NM_000492.4(CFTR):c.2022T>C (p.Asp674=) rs1259091056
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala) rs762888022
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.2046A>G (p.Thr682=) rs2116031574
NM_000492.4(CFTR):c.2052A>T (p.Lys684Asn) rs750642366
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2058T>C (p.Ser686=)
NM_000492.4(CFTR):c.2058T>G (p.Ser686=) rs1470966740
NM_000492.4(CFTR):c.2058_2061dup (p.Lys688delinsPheTer)
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile) rs372421038
NM_000492.4(CFTR):c.2061T>C (p.Phe687=)
NM_000492.4(CFTR):c.2061_2062insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCTTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAACAATCTTTT (p.Lys688delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
NM_000492.4(CFTR):c.2062_2066delinsTTTTTGTTTG (p.Lys688fs)
NM_000492.4(CFTR):c.2064A>G (p.Lys688=)
NM_000492.4(CFTR):c.2067G>A (p.Gln689=)
NM_000492.4(CFTR):c.2070T>C (p.Thr690=)
NM_000492.4(CFTR):c.2072G>T (p.Gly691Val)
NM_000492.4(CFTR):c.2076G>A (p.Glu692=)
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.4(CFTR):c.2082G>A (p.Gly694=) rs1584812453
NM_000492.4(CFTR):c.2083G>A (p.Glu695Lys)
NM_000492.4(CFTR):c.2083dup (p.Glu695fs) rs397508339
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.4(CFTR):c.2089del (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2089dup (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2106C>G (p.Leu702=) rs1800102
NM_000492.4(CFTR):c.2106C>T (p.Leu702=) rs1800102
NM_000492.4(CFTR):c.2108A>T (p.Asn703Ile)
NM_000492.4(CFTR):c.2109T>C (p.Asn703=) rs770386926
NM_000492.4(CFTR):c.2115C>A (p.Ile705=) rs1453360094
NM_000492.4(CFTR):c.2121T>A (p.Ser707=) rs2116031968
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
NM_000492.4(CFTR):c.2124A>T (p.Ile708=)
NM_000492.4(CFTR):c.2127A>G (p.Arg709=) rs2116032010
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
NM_000492.4(CFTR):c.2129A>G (p.Lys710Arg) rs2116032036
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser) rs1003610229
NM_000492.4(CFTR):c.2130A>G (p.Lys710=)
NM_000492.4(CFTR):c.2131T>C (p.Phe711Leu) rs1792042320
NM_000492.4(CFTR):c.2139T>A (p.Ile713=)
NM_000492.4(CFTR):c.2139T>C (p.Ile713=) rs763930691
NM_000492.4(CFTR):c.2140G>T (p.Val714Leu) rs774199624
NM_000492.4(CFTR):c.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln) rs2116032118
NM_000492.4(CFTR):c.2148G>A (p.Lys716=) rs2116032125
NM_000492.4(CFTR):c.2151T>G (p.Thr717=) rs2116032144
NM_000492.4(CFTR):c.2154C>T (p.Pro718=)
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter) rs397508345
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter) rs397508346
NM_000492.4(CFTR):c.216C>G (p.Ala72=)
NM_000492.4(CFTR):c.216C>T (p.Ala72=) rs1033366496
NM_000492.4(CFTR):c.2172C>T (p.Ile724=) rs368599862
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2181T>C (p.Asp727=) rs1792043547
NM_000492.4(CFTR):c.2188G>A (p.Glu730Lys)
NM_000492.4(CFTR):c.2190G>A (p.Glu730=)
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2205G>C (p.Arg735Ser) rs2116032368
NM_000492.4(CFTR):c.2208G>A (p.Leu736=)
NM_000492.4(CFTR):c.2213T>G (p.Leu738Ter)
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2217A>G (p.Val739=)
NM_000492.4(CFTR):c.2225C>T (p.Ser742Phe)
NM_000492.4(CFTR):c.2226T>C (p.Ser742=) rs2116032463
NM_000492.4(CFTR):c.2231A>C (p.Gln744Pro)
NM_000492.4(CFTR):c.2235A>G (p.Gly745=)
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs) rs397508355
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.2261del (p.Val754fs) rs2116032687
NM_000492.4(CFTR):c.227G>T (p.Cys76Phe)
NM_000492.4(CFTR):c.2286G>A (p.Gln762=)
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr) rs2116032836
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.2301G>A (p.Gln767=) rs1386366130
NM_000492.4(CFTR):c.2301del (p.Gln767fs) rs2116032944
NM_000492.4(CFTR):c.2307C>G (p.Val769=) rs1241371944
NM_000492.4(CFTR):c.2313C>T (p.Asn771=) rs768301278
NM_000492.4(CFTR):c.231T>C (p.Phe77=) rs2116641592
NM_000492.4(CFTR):c.2321C>G (p.Thr774Arg)
NM_000492.4(CFTR):c.2322A>G (p.Thr774=)
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter) rs397508365
NM_000492.4(CFTR):c.2328A>G (p.Ser776=) rs2116033048
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter) rs397508368
NM_000492.4(CFTR):c.2346C>T (p.Asn782=)
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
NM_000492.4(CFTR):c.234C>T (p.Phe78=)
NM_000492.4(CFTR):c.2354G>C (p.Arg785Pro)
NM_000492.4(CFTR):c.2358G>C (p.Lys786Asn)
NM_000492.4(CFTR):c.2360C>A (p.Thr787Lys) rs2116033185
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter) rs397508371
NM_000492.4(CFTR):c.2373A>C (p.Thr791=)
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)
NM_000492.4(CFTR):c.2389G>T (p.Ala797Ser)
NM_000492.4(CFTR):c.2399C>T (p.Ala800Val)
NM_000492.4(CFTR):c.2403C>G (p.Asn801Lys)
NM_000492.4(CFTR):c.2413C>T (p.Leu805=) rs2116033549
NM_000492.4(CFTR):c.2415G>C (p.Leu805=)
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr) rs1554389471
NM_000492.4(CFTR):c.2421A>C (p.Ile807=)
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs) rs387906359
NM_000492.4(CFTR):c.2426C>T (p.Ser809Leu)
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter) rs377447726
NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr) rs1798471062
NM_000492.4(CFTR):c.2434T>A (p.Leu812Ile)
NM_000492.4(CFTR):c.2434T>C (p.Leu812=)
NM_000492.4(CFTR):c.2435dup (p.Leu812fs) rs397508376
NM_000492.4(CFTR):c.2438del (p.Ser813fs)
NM_000492.4(CFTR):c.2439T>C (p.Ser813=) rs2116033726
NM_000492.4(CFTR):c.243T>G (p.Phe81Leu)
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter) rs397508377
NM_000492.4(CFTR):c.244A>G (p.Met82Val) rs1554376431
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
NM_000492.4(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs) rs797045156
NM_000492.4(CFTR):c.2472T>A (p.Ile824=)
NM_000492.4(CFTR):c.2472T>C (p.Ile824=)
NM_000492.4(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.4(CFTR):c.2478AGA[1] (p.Glu827del) rs2116034014
NM_000492.4(CFTR):c.2483A>G (p.Asp828Gly)
NM_000492.4(CFTR):c.2484C>T (p.Asp828=)
NM_000492.4(CFTR):c.2490+11A>G rs1482271794
NM_000492.4(CFTR):c.2490+14G>A rs573016418
NM_000492.4(CFTR):c.2490+18G>T
NM_000492.4(CFTR):c.2490+19G>A
NM_000492.4(CFTR):c.2490+19G>C rs368353825
NM_000492.4(CFTR):c.2490+19G>T
NM_000492.4(CFTR):c.2490+1G>A rs141158996
NM_000492.4(CFTR):c.2490+1G>T rs141158996
NM_000492.4(CFTR):c.2490+6del rs2116034194
NM_000492.4(CFTR):c.2490+7A>G rs751864459
NM_000492.4(CFTR):c.2490+8T>C
NM_000492.4(CFTR):c.2490G>A (p.Lys830=)
NM_000492.4(CFTR):c.2491-10T>C
NM_000492.4(CFTR):c.2491-11C>A
NM_000492.4(CFTR):c.2491-18C>T
NM_000492.4(CFTR):c.2491-19C>A
NM_000492.4(CFTR):c.2491-5T>C
NM_000492.4(CFTR):c.2491-7T>A
NM_000492.4(CFTR):c.2493G>A (p.Glu831=)
NM_000492.4(CFTR):c.2496C>T (p.Cys832=) rs397508388
NM_000492.4(CFTR):c.249C>G (p.Phe83Leu)
NM_000492.4(CFTR):c.24G>A (p.Lys8=) rs1800071
NM_000492.4(CFTR):c.2503G>A (p.Asp835Asn) rs2116039305
NM_000492.4(CFTR):c.2508T>C (p.Asp836=)
NM_000492.4(CFTR):c.2515A>C (p.Ser839Arg) rs2116039371
NM_000492.4(CFTR):c.2529G>A (p.Val843=)
NM_000492.4(CFTR):c.2529G>T (p.Val843=)
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile) rs1792097477
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter) rs1584776437
NM_000492.4(CFTR):c.2545T>A (p.Tyr849Asn) rs757165481
NM_000492.4(CFTR):c.2546A>G (p.Tyr849Cys) rs780811333
NM_000492.4(CFTR):c.2547C>T (p.Tyr849=) rs397508394
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.2556T>C (p.Tyr852=)
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.4(CFTR):c.255A>G (p.Gly85=)
NM_000492.4(CFTR):c.2560dup (p.Thr854fs) rs2116039575
NM_000492.4(CFTR):c.2562T>A (p.Thr854=)
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.2565C>G (p.Val855=) rs1233428222
NM_000492.4(CFTR):c.2570A>G (p.Lys857Arg) rs1584813860
NM_000492.4(CFTR):c.2571G>A (p.Lys857=) rs397508398
NM_000492.4(CFTR):c.2573G>A (p.Ser858Asn) rs2116039677
NM_000492.4(CFTR):c.2574C>T (p.Ser858=) rs2116039690
NM_000492.4(CFTR):c.257T>A (p.Ile86Asn) rs1798471787
NM_000492.4(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
NM_000492.4(CFTR):c.2589A>G (p.Leu863=)
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.4(CFTR):c.2601dup (p.Val868fs) rs397508405
NM_000492.4(CFTR):c.2619+11T>G
NM_000492.4(CFTR):c.2619+12C>G
NM_000492.4(CFTR):c.2619+13T>C
NM_000492.4(CFTR):c.2619+14A>G
NM_000492.4(CFTR):c.2619+16T>C
NM_000492.4(CFTR):c.2619+19A>G
NM_000492.4(CFTR):c.2619+20_2619+24del
NM_000492.4(CFTR):c.2619+7A>C rs2116039906
NM_000492.4(CFTR):c.2619+7A>G rs2116039906
NM_000492.4(CFTR):c.2619+8T>C
NM_000492.4(CFTR):c.2619+8T>G
NM_000492.4(CFTR):c.2620-11T>C
NM_000492.4(CFTR):c.2620-12G>A
NM_000492.4(CFTR):c.2620-12G>T
NM_000492.4(CFTR):c.2620-14T>C
NM_000492.4(CFTR):c.2620-15C>T rs139379077
NM_000492.4(CFTR):c.2620-18T>C
NM_000492.4(CFTR):c.2620-19G>A
NM_000492.4(CFTR):c.2620-2A>G rs1554390859
NM_000492.4(CFTR):c.2620-4C>A rs1180219519
NM_000492.4(CFTR):c.2620-7A>G rs1335322650
NM_000492.4(CFTR):c.2620-8C>T
NM_000492.4(CFTR):c.2620-9C>G rs1239102386
NM_000492.4(CFTR):c.2626G>A (p.Ala876Thr) rs1328356747
NM_000492.4(CFTR):c.2626G>T (p.Ala876Ser)
NM_000492.4(CFTR):c.2628T>C (p.Ala876=) rs2116059284
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2632T>C (p.Leu878=) rs2116059306
NM_000492.4(CFTR):c.2636T>A (p.Val879Asp)
NM_000492.4(CFTR):c.2637T>C (p.Val879=)
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2641C>T (p.Leu881=) rs2116059368
NM_000492.4(CFTR):c.264_268del (p.Leu88fs)
NM_000492.4(CFTR):c.2657+11C>T
NM_000492.4(CFTR):c.2657+12A>G rs1792246845
NM_000492.4(CFTR):c.2657+16C>T
NM_000492.4(CFTR):c.2657+17C>T rs368543375
NM_000492.4(CFTR):c.2657+19A>G
NM_000492.4(CFTR):c.2657+3G>C
NM_000492.4(CFTR):c.2657+3G>T
NM_000492.4(CFTR):c.2657+7A>T rs750080974
NM_000492.4(CFTR):c.2658-12T>G
NM_000492.4(CFTR):c.2658-13A>G
NM_000492.4(CFTR):c.2658-16C>T
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.2658-4A>G rs2116061003
NM_000492.4(CFTR):c.2658-5T>C
NM_000492.4(CFTR):c.2658-6T>C rs2116060994
NM_000492.4(CFTR):c.2658-8C>T rs2116060987
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
NM_000492.4(CFTR):c.2683A>G (p.Ser895Gly) rs1792256745
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr) rs201864483
NM_000492.4(CFTR):c.2692A>G (p.Ser898Gly)
NM_000492.4(CFTR):c.2694T>C (p.Ser898=) rs2116061252
NM_000492.4(CFTR):c.2697A>G (p.Arg899=) rs2116061262
NM_000492.4(CFTR):c.2705G>C (p.Ser902Thr) rs2116061306
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
NM_000492.4(CFTR):c.2706C>T (p.Ser902=)
NM_000492.4(CFTR):c.270del (p.Glu92fs)
NM_000492.4(CFTR):c.2715G>A (p.Val905=)
NM_000492.4(CFTR):c.2724C>T (p.Thr908=)
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
NM_000492.4(CFTR):c.273+10T>G
NM_000492.4(CFTR):c.273+11C>T
NM_000492.4(CFTR):c.273+13T>C
NM_000492.4(CFTR):c.273+14T>C
NM_000492.4(CFTR):c.273+16G>T
NM_000492.4(CFTR):c.273+19C>A
NM_000492.4(CFTR):c.273+2T>C
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.273+8T>A rs1189108407
NM_000492.4(CFTR):c.2730C>A (p.Thr910=) rs2116061425
NM_000492.4(CFTR):c.2730C>T (p.Thr910=)
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.2736G>C (p.Ser912=) rs200901072
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.2739T>C (p.Tyr913=) rs149790377
NM_000492.4(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.4(CFTR):c.274-10C>G rs397508425
NM_000492.4(CFTR):c.274-10C>T
NM_000492.4(CFTR):c.274-12C>T
NM_000492.4(CFTR):c.274-16T>C
NM_000492.4(CFTR):c.274-18G>A
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.274-2A>C rs397508426
NM_000492.4(CFTR):c.274-2A>G rs397508426
NM_000492.4(CFTR):c.274-5T>A rs1454461758
NM_000492.4(CFTR):c.274-5_274-2del rs1584784850
NM_000492.4(CFTR):c.274-7T>C
NM_000492.4(CFTR):c.274-9C>A
NM_000492.4(CFTR):c.274-9C>G rs575711764
NM_000492.4(CFTR):c.274-9C>T
NM_000492.4(CFTR):c.2742T>G (p.Tyr914Ter)
NM_000492.4(CFTR):c.2745G>A (p.Val915=)
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.2750A>G (p.Tyr917Cys) rs397508428
NM_000492.4(CFTR):c.2752A>T (p.Ile918Phe) rs1267646551
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn) rs1033530699
NM_000492.4(CFTR):c.2755del (p.Tyr919fs)
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs) rs397508431
NM_000492.4(CFTR):c.2764G>A (p.Val922Ile) rs1792259336
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2770G>C (p.Asp924His) rs201759207
NM_000492.4(CFTR):c.2772C>T (p.Asp924=) rs1562911610
NM_000492.4(CFTR):c.2773A>G (p.Thr925Ala) rs1423162478
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser) rs757410423
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser) rs397508437
NM_000492.4(CFTR):c.2802T>C (p.Gly934=)
NM_000492.4(CFTR):c.280A>C (p.Thr94Pro) rs1434378124
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.2817T>C (p.His939=) rs770410806
NM_000492.4(CFTR):c.2818_2831del (p.Thr940fs)
NM_000492.4(CFTR):c.2820T>C (p.Thr940=) rs60887846
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2825del (p.Ile942fs) rs397508441
NM_000492.4(CFTR):c.2832G>T (p.Val944=)
NM_000492.4(CFTR):c.2835G>T (p.Ser945=) rs193922513
NM_000492.4(CFTR):c.2838A>G (p.Lys946=) rs2116062142
NM_000492.4(CFTR):c.2842T>C (p.Leu948=) rs2116062157
NM_000492.4(CFTR):c.284A>G (p.Lys95Arg)
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2856G>T (p.Met952Ile)
NM_000492.4(CFTR):c.2859A>G (p.Leu953=)
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.285A>G (p.Lys95=) rs1584784870
NM_000492.4(CFTR):c.2872C>T (p.Gln958Ter) rs2116062284
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
NM_000492.4(CFTR):c.2889C>T (p.Thr963=)
NM_000492.4(CFTR):c.288A>G (p.Ala96=) rs2116669907
NM_000492.4(CFTR):c.2895C>T (p.Asn965=)
NM_000492.4(CFTR):c.2896del (p.Thr966fs) rs397508451
NM_000492.4(CFTR):c.2899T>C (p.Leu967=) rs1554391080
NM_000492.4(CFTR):c.2901G>A (p.Leu967=)
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
NM_000492.4(CFTR):c.2908+10T>C rs2116062549
NM_000492.4(CFTR):c.2908+13del
NM_000492.4(CFTR):c.2908+14T>G rs2116062569
NM_000492.4(CFTR):c.2908+14_2908+21dup
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2908+20A>G
NM_000492.4(CFTR):c.2908+3_2908+14del
NM_000492.4(CFTR):c.2908+8A>G rs1792264028
NM_000492.4(CFTR):c.2908+8A>T rs1792264028
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg) rs397508453
NM_000492.4(CFTR):c.2909-10T>C
NM_000492.4(CFTR):c.2909-12del rs2116069177
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2909-19G>C
NM_000492.4(CFTR):c.2909-7A>T rs1792304646
NM_000492.4(CFTR):c.2913G>C (p.Gly971=)
NM_000492.4(CFTR):c.2916T>C (p.Ile972=)
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro) rs397508460
NM_000492.4(CFTR):c.2919T>A (p.Leu973=) rs1453045670
NM_000492.4(CFTR):c.291A>G (p.Val97=)
NM_000492.4(CFTR):c.2922T>C (p.Asn974=)
NM_000492.4(CFTR):c.2925A>G (p.Arg975=)
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2933A>G (p.Lys978Arg)
NM_000492.4(CFTR):c.2934A>G (p.Lys978=) rs2116069501
NM_000492.4(CFTR):c.2935G>T (p.Asp979Tyr)
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2937T>C (p.Asp979=) rs1792305947
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn) rs764644021
NM_000492.4(CFTR):c.2955C>T (p.Asp985=)
NM_000492.4(CFTR):c.2956del (p.Leu986fs) rs2116069671
NM_000492.4(CFTR):c.2958del (p.Leu987fs)
NM_000492.4(CFTR):c.2959_2960dup (p.Pro988fs) rs2116069700
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala) rs1031657153
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu) rs1792306616
NM_000492.4(CFTR):c.2974T>C (p.Phe992Leu) rs1043006335
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
NM_000492.4(CFTR):c.2979C>T (p.Asp993=) rs2116069838
NM_000492.4(CFTR):c.297T>G (p.Pro99=) rs2116669955
NM_000492.4(CFTR):c.2982C>T (p.Phe994=)
NM_000492.4(CFTR):c.2982_2988+2del rs1554391489
NM_000492.4(CFTR):c.2988+10A>C rs2116069977
NM_000492.4(CFTR):c.2988+16T>A
NM_000492.4(CFTR):c.2988+19C>T
NM_000492.4(CFTR):c.2988+1G>T rs75096551
NM_000492.4(CFTR):c.2988+20G>T
NM_000492.4(CFTR):c.2988+33G>T
NM_000492.4(CFTR):c.2988+9A>T
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.300C>T (p.Leu100=) rs1206224160
NM_000492.4(CFTR):c.300_301del (p.Leu101fs) rs2116669950
NM_000492.4(CFTR):c.303A>G (p.Leu101=)
NM_000492.4(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.4(CFTR):c.304C>T (p.Leu102=) rs1798849790
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro) rs397508490
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.306G>T (p.Leu102=)
NM_000492.4(CFTR):c.307G>T (p.Gly103Ter) rs1584784895
NM_000492.4(CFTR):c.308del (p.Gly103fs)
NM_000492.4(CFTR):c.30C>T (p.Ser10=) rs1369001389
NM_000492.4(CFTR):c.312A>G (p.Arg104=) rs2116670032
NM_000492.4(CFTR):c.313A>C (p.Ile105Leu) rs758675549
NM_000492.4(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn) rs397508509
NM_000492.4(CFTR):c.316A>G (p.Ile106Val) rs1024092547
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer) rs397508516
NM_000492.4(CFTR):c.321T>A (p.Ala107=) rs778204477
NM_000492.4(CFTR):c.322T>C (p.Ser108Pro)
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.4(CFTR):c.327T>C (p.Tyr109=)
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.330C>G (p.Asp110Glu)
NM_000492.4(CFTR):c.332del (p.Pro111fs) rs2116670123
NM_000492.4(CFTR):c.3368-13del
NM_000492.4(CFTR):c.3368-14T>C
NM_000492.4(CFTR):c.3368-17C>G
NM_000492.4(CFTR):c.3368-17C>T
NM_000492.4(CFTR):c.3368-19G>A rs374104839
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-3T>C rs2116096154
NM_000492.4(CFTR):c.3368-4A>G rs748811222
NM_000492.4(CFTR):c.3374G>A (p.Gly1125Glu)
NM_000492.4(CFTR):c.3375A>C (p.Gly1125=) rs751140170
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter) rs397508549
NM_000492.4(CFTR):c.3385G>C (p.Val1129Leu) rs2116096247
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.4(CFTR):c.3399G>A (p.Leu1133=) rs1792456177
NM_000492.4(CFTR):c.3403T>C (p.Leu1135=)
NM_000492.4(CFTR):c.3404T>A (p.Leu1135Ter) rs1792456313
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
NM_000492.4(CFTR):c.3408C>T (p.Ala1136=)
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
NM_000492.4(CFTR):c.3418A>T (p.Met1140Leu)
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile) rs1554392775
NM_000492.4(CFTR):c.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.342G>A (p.Lys114=)
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter) rs397508560
NM_000492.4(CFTR):c.3449G>C (p.Ser1150Thr) rs1792458131
NM_000492.4(CFTR):c.3452T>A (p.Ile1151Lys) rs1584824269
NM_000492.4(CFTR):c.345G>A (p.Glu115=) rs2116670184
NM_000492.4(CFTR):c.3468+11T>C
NM_000492.4(CFTR):c.3468+12C>T rs1415573737
NM_000492.4(CFTR):c.3468+13A>G
NM_000492.4(CFTR):c.3468+1G>T rs1554392798
NM_000492.4(CFTR):c.3469-10T>C
NM_000492.4(CFTR):c.3469-14T>C
NM_000492.4(CFTR):c.3469-16_3469-15del rs2116128700
NM_000492.4(CFTR):c.3469-3C>A
NM_000492.4(CFTR):c.3469-4del
NM_000492.4(CFTR):c.3469-5T>C
NM_000492.4(CFTR):c.3469-7A>G
NM_000492.4(CFTR):c.3469-9T>G
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.346G>C (p.Glu116Gln) rs397508571
NM_000492.4(CFTR):c.3471G>A (p.Met1157Ile)
NM_000492.4(CFTR):c.3472C>A (p.Arg1158=) rs79850223
NM_000492.4(CFTR):c.3474A>T (p.Arg1158=) rs2116128804
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.3480G>A (p.Val1160=) rs1298788637
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs) rs397508575
NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter) rs387906379
NM_000492.4(CFTR):c.3494A>C (p.Lys1165Thr) rs753508195
NM_000492.4(CFTR):c.3498C>G (p.Phe1166Leu) rs1792670307
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn) rs2116129005
NM_000492.4(CFTR):c.3504C>T (p.Asp1168=)
NM_000492.4(CFTR):c.3508C>T (p.Pro1170Ser) rs1792670534
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3514G>C (p.Glu1172Gln)
NM_000492.4(CFTR):c.351C>T (p.Arg117=) rs2116670233
NM_000492.4(CFTR):c.3528C>T (p.Thr1176=)
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3529A>G (p.Lys1177Glu) rs397508578
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
NM_000492.4(CFTR):c.3543A>G (p.Pro1181=)
NM_000492.4(CFTR):c.3544T>C (p.Tyr1182His) rs770167300
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter) rs397508581
NM_000492.4(CFTR):c.3546C>T (p.Tyr1182=) rs397508581
NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer) rs1792671655
NM_000492.4(CFTR):c.354T>C (p.Ser118=) rs2116670246
NM_000492.4(CFTR):c.3555C>A (p.Gly1185=)
NM_000492.4(CFTR):c.3555C>T (p.Gly1185=) rs2116129370
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu) rs1036123285
NM_000492.4(CFTR):c.3567A>G (p.Lys1189=)
NM_000492.4(CFTR):c.3571dup (p.Met1191fs)
NM_000492.4(CFTR):c.3574A>T (p.Ile1192Phe) rs1792672546
NM_000492.4(CFTR):c.357C>A (p.Ile119=) rs1264742569
NM_000492.4(CFTR):c.3588A>G (p.Ser1196=)
NM_000492.4(CFTR):c.3590A>G (p.His1197Arg) rs765133036
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.4(CFTR):c.359C>T (p.Ala120Val) rs1265244783
NM_000492.4(CFTR):c.3605del (p.Asp1202fs) rs397508587
NM_000492.4(CFTR):c.3606C>T (p.Asp1202=) rs2116129667
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter) rs121908764
NM_000492.4(CFTR):c.3615C>G (p.Pro1205=)
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs) rs397508589
NM_000492.4(CFTR):c.361A>G (p.Ile121Val) rs574654063
NM_000492.4(CFTR):c.3621G>A (p.Gly1207=)
NM_000492.4(CFTR):c.3621G>T (p.Gly1207=)
NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)
NM_000492.4(CFTR):c.3623dup (p.Gln1209fs)
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu) rs151264397
NM_000492.4(CFTR):c.3637A>C (p.Lys1213Gln)
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn) rs397508592
NM_000492.4(CFTR):c.3657C>T (p.Tyr1219=) rs2116129887
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.4(CFTR):c.3676A>G (p.Ile1226Val) rs2116129961
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.4(CFTR):c.3684G>A (p.Glu1228=)
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=) rs139322772
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro) rs1792676456
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.3699A>G (p.Ser1233=)
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3717+11A>T
NM_000492.4(CFTR):c.3717+13C>T
NM_000492.4(CFTR):c.3717+14A>G
NM_000492.4(CFTR):c.3717+16T>G rs749483814
NM_000492.4(CFTR):c.3717+1G>A rs750558115
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3717+40A>T
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-14C>T
NM_000492.4(CFTR):c.3718-15A>C
NM_000492.4(CFTR):c.3718-18A>G
NM_000492.4(CFTR):c.3718-24G>T rs374013084
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.3718-5_3725del rs2116166586
NM_000492.4(CFTR):c.3718-9A>T
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3722G>A (p.Gly1241Asp)
NM_000492.4(CFTR):c.3725del (p.Leu1242fs) rs2116166673
NM_000492.4(CFTR):c.3726C>G (p.Leu1242=) rs758818517
NM_000492.4(CFTR):c.3726C>T (p.Leu1242=) rs758818517
NM_000492.4(CFTR):c.3727T>C (p.Leu1243=) rs1392953776
NM_000492.4(CFTR):c.372C>T (p.Gly124=) rs1060503162
NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg) rs397508599
NM_000492.4(CFTR):c.3735A>G (p.Arg1245=)
NM_000492.4(CFTR):c.3736del (p.Thr1246fs) rs2116166758
NM_000492.4(CFTR):c.3738T>C (p.Thr1246=)
NM_000492.4(CFTR):c.3739G>T (p.Gly1247Ter)
NM_000492.4(CFTR):c.3740G>A (p.Gly1247Glu)
NM_000492.4(CFTR):c.3741A>T (p.Gly1247=) rs1792931608
NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs) rs2116166806
NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)
NM_000492.4(CFTR):c.3744A>G (p.Ser1248=)
NM_000492.4(CFTR):c.3747G>A (p.Gly1249=) rs794727373
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) rs797045159
NM_000492.4(CFTR):c.3749_3751dup (p.Lys1250dup) rs1584836961
NM_000492.4(CFTR):c.3752G>C (p.Ser1251Thr)
NM_000492.4(CFTR):c.3756T>C (p.Thr1252=)
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter) rs397508604
NM_000492.4(CFTR):c.3762A>G (p.Leu1254=)
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3765A>G (p.Ser1255=)
NM_000492.4(CFTR):c.3767C>G (p.Ala1256Gly) rs773852510
NM_000492.4(CFTR):c.3772T>C (p.Leu1258=) rs202074317
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3776G>C (p.Arg1259Thr) rs1470171438
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala) rs397508609
NM_000492.4(CFTR):c.3780A>C (p.Leu1260=)
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.3792del (p.Gly1265fs)
NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu) rs1554395370
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter) rs1584837090
NM_000492.4(CFTR):c.3798A>G (p.Glu1266=)
NM_000492.4(CFTR):c.379T>C (p.Leu127=) rs2116670348
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn) rs1562923253
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met) rs1800129
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=) rs1800129
NM_000492.4(CFTR):c.3810T>C (p.Asp1270=)
NM_000492.4(CFTR):c.3816G>A (p.Val1272=)
NM_000492.4(CFTR):c.381A>G (p.Leu127=)
NM_000492.4(CFTR):c.3828A>T (p.Ser1276=)
NM_000492.4(CFTR):c.3829A>G (p.Ile1277Val)
NM_000492.4(CFTR):c.3829del (p.Ser1276_Ile1277insTer) rs397508614
NM_000492.4(CFTR):c.3836T>C (p.Leu1279Ser) rs1286786026
NM_000492.4(CFTR):c.3840A>G (p.Gln1280=)
NM_000492.4(CFTR):c.3842A>G (p.Gln1281Arg) rs752127256
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser) rs1792935893
NM_000492.4(CFTR):c.384C>T (p.Cys128=) rs1388235792
NM_000492.4(CFTR):c.3853G>A (p.Ala1285Thr) rs868174013
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3855C>G (p.Ala1285=)
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg) rs1792936385
NM_000492.4(CFTR):c.3859G>T (p.Gly1287Ter) rs1792936385
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser) rs397508619
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter) rs397508620
NM_000492.4(CFTR):c.3873+10A>G rs1584837299
NM_000492.4(CFTR):c.3873+18G>A
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3873+20C>T
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3873+33A>G rs397508622
NM_000492.4(CFTR):c.3874-14_3874-10del
NM_000492.4(CFTR):c.3874-19C>A
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3874-27TTC[2] rs397508623
NM_000492.4(CFTR):c.3874-4A>C rs201381687
NM_000492.4(CFTR):c.3874-8del rs1562926012
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs) rs1793108213
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) rs387906373
NM_000492.4(CFTR):c.3883del (p.Ile1295fs) rs397508630
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.388C>G (p.Leu130Val) rs397508632
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3900T>C (p.Phe1300=)
NM_000492.4(CFTR):c.3904A>G (p.Lys1302Glu)
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.390C>G (p.Leu130=) rs1411911535
NM_000492.4(CFTR):c.3910T>C (p.Leu1304=) rs1478450897
NM_000492.4(CFTR):c.3910T>G (p.Leu1304Val)
NM_000492.4(CFTR):c.3918C>T (p.Pro1306=) rs1800132
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter) rs193922732
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.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.4(CFTR):c.3945A>C (p.Ile1315=)
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.4(CFTR):c.3954T>G (p.Val1318=)
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu) rs397508649
NM_000492.4(CFTR):c.3960T>C (p.Asp1320=) rs2116195757
NM_000492.4(CFTR):c.3963+15T>C rs1269502695
NM_000492.4(CFTR):c.3963+19A>G
NM_000492.4(CFTR):c.3963+20T>G
NM_000492.4(CFTR):c.3963+5G>C
NM_000492.4(CFTR):c.3964-16T>G
NM_000492.4(CFTR):c.3964-17A>G
NM_000492.4(CFTR):c.3964-18T>C
NM_000492.4(CFTR):c.3964-1_3964delinsTT
NM_000492.4(CFTR):c.3964-20A>C
NM_000492.4(CFTR):c.3964-7A>T rs2116220618
NM_000492.4(CFTR):c.3964-9T>A rs1562928845
NM_000492.4(CFTR):c.3964-9T>C
NM_000492.4(CFTR):c.3964G>T (p.Val1322Phe)
NM_000492.4(CFTR):c.3965T>A (p.Val1322Asp)
NM_000492.4(CFTR):c.3966T>A (p.Val1322=)
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.3972C>G (p.Leu1324=)
NM_000492.4(CFTR):c.3973A>C (p.Arg1325=) rs1231511097
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser) rs1793339514
NM_000492.4(CFTR):c.3980T>C (p.Val1327Ala)
NM_000492.4(CFTR):c.3980T>G (p.Val1327Gly)
NM_000492.4(CFTR):c.3981G>A (p.Val1327=) rs2116220727
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter) rs375661578
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.3989A>G (p.Gln1330Arg)
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile) rs1369611499
NM_000492.4(CFTR):c.3996T>C (p.Pro1332=) rs2116220796
NM_000492.4(CFTR):c.3999del (p.Lys1334fs) rs886042527
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4008C>T (p.Asp1336=)
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val) rs397508659
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.4(CFTR):c.4018G>C (p.Val1340Leu) rs1554397492
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys) rs1584785049
NM_000492.4(CFTR):c.4026G>A (p.Gly1342=)
NM_000492.4(CFTR):c.4026G>C (p.Gly1342=) rs1584848821
NM_000492.4(CFTR):c.4026G>T (p.Gly1342=)
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp) rs773458471
NM_000492.4(CFTR):c.4028G>C (p.Gly1343Ala)
NM_000492.4(CFTR):c.4028del (p.Gly1343fs) rs397508661
NM_000492.4(CFTR):c.402G>A (p.Arg134=)
NM_000492.4(CFTR):c.4035C>A (p.Val1345=) rs2116220979
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs) rs1554397497
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs) rs397508662
NM_000492.4(CFTR):c.4044T>C (p.His1348=)
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4047C>T (p.Gly1349=) rs2116221068
NM_000492.4(CFTR):c.4052del (p.Lys1351fs)
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter) rs751098333
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer) rs1562928927
NM_000492.4(CFTR):c.405A>C (p.Thr135=)
NM_000492.4(CFTR):c.405A>G (p.Thr135=)
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr) rs755993775
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg) rs755993775
NM_000492.4(CFTR):c.4068G>A (p.Leu1356=)
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.407T>C (p.Leu136Pro) rs1798854681
NM_000492.4(CFTR):c.4081C>G (p.Leu1361Val) rs772157232
NM_000492.4(CFTR):c.4083C>T (p.Leu1361=)
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter) rs397508669
NM_000492.4(CFTR):c.408G>C (p.Leu136=)
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.409_412del (p.Leu137fs) rs397508671
NM_000492.4(CFTR):c.40A>C (p.Lys14Gln)
NM_000492.4(CFTR):c.4104G>A (p.Leu1368=)
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=) rs1793345960
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.4(CFTR):c.4126T>C (p.Leu1376=) rs2116221499
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.4(CFTR):c.4135G>C (p.Val1379Leu)
NM_000492.4(CFTR):c.4136+12A>T rs777853603
NM_000492.4(CFTR):c.4136+13T>C
NM_000492.4(CFTR):c.4136+14G>A rs1389376517
NM_000492.4(CFTR):c.4136+14G>T
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4136+20T>A
NM_000492.4(CFTR):c.4136+5G>A rs1584849005
NM_000492.4(CFTR):c.4136+6T>A rs969884170
NM_000492.4(CFTR):c.4137-12T>C
NM_000492.4(CFTR):c.4137-20G>T
NM_000492.4(CFTR):c.4137-4C>T rs766178879
NM_000492.4(CFTR):c.4137-5dup rs1171674692
NM_000492.4(CFTR):c.4137-8T>C
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4140A>T (p.Thr1380=) rs2116222559
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.4(CFTR):c.4142A>T (p.Tyr1381Phe)
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.4147A>G (p.Ile1383Val)
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro) rs397508688
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.4178C>G (p.Ala1393Gly) rs2116222697
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
NM_000492.4(CFTR):c.4191A>T (p.Val1397=) rs2116222773
NM_000492.4(CFTR):c.4194T>C (p.Ile1398=) rs2116222791
NM_000492.4(CFTR):c.4197C>T (p.Leu1399=) rs79688066
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.419C>G (p.Pro140Arg)
NM_000492.4(CFTR):c.419C>T (p.Pro140Leu) rs397508694
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer) rs397508695
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter) rs397508696
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly) rs397508697
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.4230C>A (p.Cys1410Ter)
NM_000492.4(CFTR):c.4233A>G (p.Gln1411=)
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter) rs397508702
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=) rs541737583
NM_000492.4(CFTR):c.423C>T (p.Ala141=) rs1584785096
NM_000492.4(CFTR):c.4242+19A>C rs1554397608
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4242+20C>T rs1229413013
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.4242+6T>C rs1562929200
NM_000492.4(CFTR):c.4242+7C>T rs1793361429
NM_000492.4(CFTR):c.424A>G (p.Ile142Val) rs1562889369
NM_000492.4(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.4(CFTR):c.432C>T (p.Gly144=) rs1431645851
NM_000492.4(CFTR):c.43del (p.Leu15fs) rs397508715
NM_000492.4(CFTR):c.442del (p.Ile148fs) rs121908770
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.44T>A (p.Leu15His)
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.450G>A (p.Met150Ile)
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter) rs397508720
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.45T>G (p.Leu15=) rs1212474322
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer) rs1554379887
NM_000492.4(CFTR):c.472A>G (p.Ser158Gly)
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.480T>C (p.Ile160=)
NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs) rs1584785196
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.487A>G (p.Lys163Glu) rs1798858347
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.489+10C>G rs1447914513
NM_000492.4(CFTR):c.489+11C>T
NM_000492.4(CFTR):c.489+1G>A rs78756941
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.489+2T>G rs397508732
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000492.4(CFTR):c.490-13A>G
NM_000492.4(CFTR):c.490-14C>A
NM_000492.4(CFTR):c.490-15C>T rs2157735
NM_000492.4(CFTR):c.490-17T>G rs2116674831
NM_000492.4(CFTR):c.490-2A>G rs397508735
NM_000492.4(CFTR):c.490-4T>G
NM_000492.4(CFTR):c.490-8T>C
NM_000492.4(CFTR):c.490-8T>G
NM_000492.4(CFTR):c.490-9T>A rs2116674841
NM_000492.4(CFTR):c.492T>A (p.Thr164=)
NM_000492.4(CFTR):c.492T>C (p.Thr164=)
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer) rs397508737
NM_000492.4(CFTR):c.498G>A (p.Lys166=)
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn) rs2116674891
NM_000492.4(CFTR):c.499C>T (p.Leu167=)
NM_000492.4(CFTR):c.49_50dup (p.Trp19fs) rs397508714
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.503C>G (p.Ser168Ter) rs869249241
NM_000492.4(CFTR):c.508C>A (p.Arg170Ser) rs578029902
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.50del (p.Phe17fs) rs397508714
NM_000492.4(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.4(CFTR):c.518A>T (p.Asp173Val)
NM_000492.4(CFTR):c.51del (p.Phe17fs) rs1317756653
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.525A>T (p.Ile175=) rs2116674963
NM_000492.4(CFTR):c.527G>T (p.Ser176Ile)
NM_000492.4(CFTR):c.528T>C (p.Ser176=) rs1798911676
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
NM_000492.4(CFTR):c.53+10T>C rs2116604777
NM_000492.4(CFTR):c.53+11G>A
NM_000492.4(CFTR):c.53+12G>A
NM_000492.4(CFTR):c.53+13C>A
NM_000492.4(CFTR):c.53+14C>T
NM_000492.4(CFTR):c.53+16A>G
NM_000492.4(CFTR):c.53+17C>A rs1797979411
NM_000492.4(CFTR):c.53+19G>T
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.53+2T>C
NM_000492.4(CFTR):c.53+3G>C rs1797978937
NM_000492.4(CFTR):c.53+8G>A rs1584764672
NM_000492.4(CFTR):c.53+9G>T rs745414764
NM_000492.4(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.54-11C>T
NM_000492.4(CFTR):c.54-11_54-8del rs750763328
NM_000492.4(CFTR):c.54-13del
NM_000492.4(CFTR):c.54-15_54-13del
NM_000492.4(CFTR):c.54-1G>T
NM_000492.4(CFTR):c.54-4T>G rs2116635058
NM_000492.4(CFTR):c.54-8T>C rs778197563
NM_000492.4(CFTR):c.54-9T>C rs1584774278
NM_000492.4(CFTR):c.540T>G (p.Leu180=)
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.560del (p.Asn187fs) rs1562890223
NM_000492.4(CFTR):c.561C>T (p.Asn187=) rs397508754
NM_000492.4(CFTR):c.567C>T (p.Asn189=) rs397508755
NM_000492.4(CFTR):c.574G>C (p.Asp192His)
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.578_579+5del rs397508760
NM_000492.4(CFTR):c.579+10T>C
NM_000492.4(CFTR):c.579+11A>G
NM_000492.4(CFTR):c.579+16T>C
NM_000492.4(CFTR):c.579+1_579+2insACAT rs2116675185
NM_000492.4(CFTR):c.579+20A>G
NM_000492.4(CFTR):c.579+8C>A
NM_000492.4(CFTR):c.579+8C>G
NM_000492.4(CFTR):c.580-14C>A
NM_000492.4(CFTR):c.580-15G>T
NM_000492.4(CFTR):c.580-18T>C
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.580-3C>T rs2116676312
NM_000492.4(CFTR):c.580-9A>G rs1584786873
NM_000492.4(CFTR):c.580G>C (p.Gly194Arg)
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter) rs376008630
NM_000492.4(CFTR):c.582A>G (p.Gly194=) rs561270322
NM_000492.4(CFTR):c.582A>T (p.Gly194=)
NM_000492.4(CFTR):c.585T>C (p.Leu195=)
NM_000492.4(CFTR):c.587C>T (p.Ala196Val) rs1204822296
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro) rs193922529
NM_000492.4(CFTR):c.594A>C (p.Ala198=) rs1481956057
NM_000492.4(CFTR):c.596A>G (p.His199Arg) rs397508764
NM_000492.4(CFTR):c.600C>A (p.Phe200Leu)
NM_000492.4(CFTR):c.600C>T (p.Phe200=) rs753492211
NM_000492.4(CFTR):c.601del (p.Val201fs) rs397508767
NM_000492.4(CFTR):c.603G>A (p.Val201=)
NM_000492.4(CFTR):c.609C>A (p.Ile203=)
NM_000492.4(CFTR):c.609C>G (p.Ile203Met) rs1800081
NM_000492.4(CFTR):c.60C>A (p.Thr20=) rs534609552
NM_000492.4(CFTR):c.613C>A (p.Pro205Thr) rs121908803
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) rs397508769
NM_000492.4(CFTR):c.618G>A (p.Leu206=)
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe) rs397508770
NM_000492.4(CFTR):c.630C>A (p.Leu210=)
NM_000492.4(CFTR):c.633C>T (p.Leu211=) rs2116676523
NM_000492.4(CFTR):c.639G>A (p.Gly213=)
NM_000492.4(CFTR):c.63A>G (p.Arg21=) rs1356545960
NM_000492.4(CFTR):c.640C>G (p.Leu214Val) rs188457893
NM_000492.4(CFTR):c.651G>A (p.Glu217=) rs1422913967
NM_000492.4(CFTR):c.652T>C (p.Leu218=) rs1798932836
NM_000492.4(CFTR):c.657A>G (p.Leu219=) rs1798933085
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.662C>A (p.Ala221Glu)
NM_000492.4(CFTR):c.668C>T (p.Ala223Val)
NM_000492.4(CFTR):c.669C>G (p.Ala223=) rs2116676667
NM_000492.4(CFTR):c.675T>C (p.Cys225=)
NM_000492.4(CFTR):c.678A>T (p.Gly226=) rs1584787037
NM_000492.4(CFTR):c.684T>C (p.Gly228=)
NM_000492.4(CFTR):c.688C>T (p.Leu230=) rs201410793
NM_000492.4(CFTR):c.696C>A (p.Val232=) rs2116676736
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp) rs769016520
NM_000492.4(CFTR):c.705T>G (p.Leu235=) rs762380161
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000492.4(CFTR):c.710A>C (p.Gln237Pro)
NM_000492.4(CFTR):c.711G>C (p.Gln237His) rs397508785
NM_000492.4(CFTR):c.717G>A (p.Gly239=)
NM_000492.4(CFTR):c.717G>T (p.Gly239=) rs764661797
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer) rs1554380497
NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
NM_000492.4(CFTR):c.718C>T (p.Leu240=)
NM_000492.4(CFTR):c.71del (p.Ile23_Leu24insTer)
NM_000492.4(CFTR):c.721G>T (p.Gly241Trp)
NM_000492.4(CFTR):c.723G>A (p.Gly241=)
NM_000492.4(CFTR):c.72G>A (p.Leu24=)
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.743+11A>T
NM_000492.4(CFTR):c.743+16C>G
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.743+2T>C rs1584787119
NM_000492.4(CFTR):c.743+8C>T
NM_000492.4(CFTR):c.743+9C>G
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.744-8A>C rs2116678470
NM_000492.4(CFTR):c.745G>T (p.Asp249Tyr)
NM_000492.4(CFTR):c.754G>A (p.Ala252Thr) rs748582435
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg) rs1343896905
NM_000492.4(CFTR):c.765C>T (p.Ile255=) rs1202176665
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly) rs773790621
NM_000492.4(CFTR):c.768T>C (p.Ser256=) rs2116678553
NM_000492.4(CFTR):c.770A>G (p.Glu257Gly)
NM_000492.4(CFTR):c.773G>A (p.Arg258Lys) rs377514639
NM_000492.4(CFTR):c.774A>G (p.Arg258=) rs1798960814
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe) rs762640483
NM_000492.4(CFTR):c.780G>A (p.Val260=)
NM_000492.4(CFTR):c.780G>C (p.Val260=)
NM_000492.4(CFTR):c.789A>T (p.Ser263=) rs1484039409
NM_000492.4(CFTR):c.798T>A (p.Ile266=) rs2116678632
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.4(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.4(CFTR):c.807C>A (p.Ile269=)
NM_000492.4(CFTR):c.810del (p.Gln270fs)
NM_000492.4(CFTR):c.813T>G (p.Ser271=) rs1060504846
NM_000492.4(CFTR):c.819G>A (p.Lys273=)
NM_000492.4(CFTR):c.822A>G (p.Ala274=) rs2116678695
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.828C>T (p.Cys276=)
NM_000492.4(CFTR):c.831G>A (p.Trp277Ter) rs2116678722
NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)
NM_000492.4(CFTR):c.846A>G (p.Glu282=)
NM_000492.4(CFTR):c.84C>T (p.Tyr28=)
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.851T>C (p.Met284Thr) rs2116678778
NM_000492.4(CFTR):c.860A>G (p.Asn287Ser)
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.867A>G (p.Arg289=) rs1798963965
NM_000492.4(CFTR):c.869+11C>A
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.869+7T>A
NM_000492.4(CFTR):c.869+7T>C rs2116678864
NM_000492.4(CFTR):c.869+8G>A rs773933167
NM_000492.4(CFTR):c.869+8G>C rs773933167
NM_000492.4(CFTR):c.869+9T>C rs1798964448
NM_000492.4(CFTR):c.869A>T (p.Gln290Leu)
NM_000492.4(CFTR):c.870-1110T>C
NM_000492.4(CFTR):c.870-1111A>C
NM_000492.4(CFTR):c.870-1113G>C rs1799002964
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000492.4(CFTR):c.870-12T>G
NM_000492.4(CFTR):c.870-13T>C
NM_000492.4(CFTR):c.870-4A>G rs755173693
NM_000492.4(CFTR):c.870-5del rs759762840
NM_000492.4(CFTR):c.870-6T>C
NM_000492.4(CFTR):c.870-7_870-5del rs759762840
NM_000492.4(CFTR):c.870-8T>C
NM_000492.4(CFTR):c.870-9T>C rs2116683428
NM_000492.4(CFTR):c.874G>T (p.Glu292Ter) rs397508811
NM_000492.4(CFTR):c.874_875del (p.Glu292fs) rs1799022949
NM_000492.4(CFTR):c.875A>G (p.Glu292Gly) rs1799023050
NM_000492.4(CFTR):c.876A>G (p.Glu292=) rs2116683514
NM_000492.4(CFTR):c.878T>G (p.Leu293Arg)
NM_000492.4(CFTR):c.882A>G (p.Lys294=) rs2116683549
NM_000492.4(CFTR):c.885G>T (p.Leu295=)
NM_000492.4(CFTR):c.892A>T (p.Lys298Ter) rs1584789180
NM_000492.4(CFTR):c.894G>A (p.Lys298=)
NM_000492.4(CFTR):c.899C>G (p.Ala300Gly)
NM_000492.4(CFTR):c.900C>T (p.Ala300=) rs146652541
NM_000492.4(CFTR):c.902dup (p.Tyr301Ter)
NM_000492.4(CFTR):c.906G>C (p.Val302=) rs2116683646
NM_000492.4(CFTR):c.912C>T (p.Tyr304=)
NM_000492.4(CFTR):c.922_926del (p.Ser308fs) rs2116683702
NM_000492.4(CFTR):c.927C>A (p.Ala309=) rs1800084
NM_000492.4(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.4(CFTR):c.930C>T (p.Phe310=) rs1230103075
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226
NM_000492.4(CFTR):c.931T>C (p.Phe311Leu) rs2116683801
NM_000492.4(CFTR):c.932T>G (p.Phe311Cys) rs1584789230
NM_000492.4(CFTR):c.933C>A (p.Phe311Leu)
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu) rs121909016
NM_000492.4(CFTR):c.940G>T (p.Gly314Trp) rs397508819
NM_000492.4(CFTR):c.941G>C (p.Gly314Ala) rs75763344
NM_000492.4(CFTR):c.944T>G (p.Phe315Cys)
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.948dup (p.Val317fs)
NM_000492.4(CFTR):c.954G>A (p.Val318=) rs766189605
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe) rs56093012
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.4(CFTR):c.960dup (p.Ser321fs)
NM_000492.4(CFTR):c.966G>C (p.Val322=) rs2116683990
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu) rs397508822
NM_000492.4(CFTR):c.981A>T (p.Leu327=)
NM_000492.4(CFTR):c.987del (p.Gly330fs) rs397508824
NM_000492.4(CFTR):c.993C>T (p.Ile331=) rs2116684106
NM_000492.4(CFTR):c.996C>A (p.Ile332=)
NM_000492.4(CFTR):c.9del (p.Arg3fs)
Single allele

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