ClinVar Miner

List of variants in gene CFTR reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 631
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HGVS dbSNP
NC_000007.13:g.(?_117267556)_(117267869_?)dup
NC_000007.14:g.117535266T>G
NM_000492.3(CFTR):c.*1031A>G rs886061954
NM_000492.3(CFTR):c.*1249T>C rs150494700
NM_000492.3(CFTR):c.*124_*125insC rs1554397824
NM_000492.3(CFTR):c.*144C>T rs149810643
NM_000492.3(CFTR):c.*1545C>T rs886061955
NM_000492.3(CFTR):c.*2G>A rs150914702
NM_000492.3(CFTR):c.*303G>C rs755544507
NM_000492.3(CFTR):c.*442C>T rs180783619
NM_000492.3(CFTR):c.*684A>G rs146818281
NM_000492.3(CFTR):c.*842del rs886061953
NM_000492.3(CFTR):c.*881C>T rs371815480
NM_000492.3(CFTR):c.*94C>T rs144214399
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1019T>A (p.Ile340Asn) rs1554381352
NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys) rs397508147
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1047G>A (p.Ala349=)
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1059A>G (p.Gln353=) rs1800087
NM_000492.3(CFTR):c.1066_1072delinsA (p.Trp356_Val358delinsIle) rs797044788
NM_000492.3(CFTR):c.1067G>C (p.Trp356Ser) rs573808767
NM_000492.3(CFTR):c.1094T>C (p.Leu365Pro) rs76727851
NM_000492.3(CFTR):c.109A>G (p.Ile37Val)
NM_000492.3(CFTR):c.1116+31A>C rs201524392
NM_000492.3(CFTR):c.1116+6G>C rs762964768
NM_000492.3(CFTR):c.1125A>C (p.Leu375Phe) rs73215912
NM_000492.3(CFTR):c.1133A>G (p.Gln378Arg) rs768589673
NM_000492.3(CFTR):c.1135G>A (p.Glu379Lys) rs397508165
NM_000492.3(CFTR):c.1148T>C (p.Leu383Ser) rs397508166
NM_000492.3(CFTR):c.1149G>A (p.Leu383=) rs1562892844
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1164G>A (p.Thr388=) rs1800088
NM_000492.3(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.3(CFTR):c.1177G>C (p.Val393Leu) rs1562892874
NM_000492.3(CFTR):c.1186A>T (p.Asn396Tyr) rs753143757
NM_000492.3(CFTR):c.1187A>C (p.Asn396Thr) rs1396443734
NM_000492.3(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.3(CFTR):c.1199T>C (p.Phe400Ser)
NM_000492.3(CFTR):c.1209+12T>A rs748021847
NM_000492.3(CFTR):c.1209+18A>C rs193922499
NM_000492.3(CFTR):c.1209+6A>G rs749054857
NM_000492.3(CFTR):c.1209+80G>A rs948980243
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12_1210-11insG rs4148705
NM_000492.3(CFTR):c.1210-13_1210-10delGTTT rs765376630
NM_000492.3(CFTR):c.1210-15G>T rs947648829
NM_000492.3(CFTR):c.1210-32T>G rs886044712
NM_000492.3(CFTR):c.1210-6delT rs1805177
NM_000492.3(CFTR):c.1210G>C (p.Gly404Arg) rs200899224
NM_000492.3(CFTR):c.1211G>T (p.Gly404Val) rs1324302547
NM_000492.3(CFTR):c.1217G>A (p.Gly406Glu)
NM_000492.3(CFTR):c.1220A>T (p.Glu407Val) rs397508180
NM_000492.3(CFTR):c.1227T>C (p.Phe409=) rs778548877
NM_000492.3(CFTR):c.1231A>G (p.Lys411Glu) rs748155731
NM_000492.3(CFTR):c.1235C>T (p.Ala412Val) rs1554382604
NM_000492.3(CFTR):c.1245_1247del (p.Asn418del) rs1554382616
NM_000492.3(CFTR):c.1247A>G (p.Asn416Ser) rs777850419
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1253A>G (p.Asn418Ser) rs397508185
NM_000492.3(CFTR):c.125C>T (p.Ser42Phe) rs143456784
NM_000492.3(CFTR):c.1269T>A (p.Asn423Lys)
NM_000492.3(CFTR):c.1270G>A (p.Gly424Ser) rs371107552
NM_000492.3(CFTR):c.1307T>C (p.Leu436Pro) rs1554382639
NM_000492.3(CFTR):c.1311T>C (p.Gly437=) rs1562895049
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1317T>G (p.Pro439=) rs1562895052
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.3(CFTR):c.1342A>G (p.Ile448Val)
NM_000492.3(CFTR):c.1343T>C (p.Ile448Thr) rs748642635
NM_000492.3(CFTR):c.1352G>T (p.Gly451Val) rs1554382653
NM_000492.3(CFTR):c.1360_1381delinsATAGAAA (p.Leu454_Gly461delinsIleGluArg) rs1554382656
NM_000492.3(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.3(CFTR):c.137C>T (p.Ala46Val)
NM_000492.3(CFTR):c.1392+42T>C rs367758627
NM_000492.3(CFTR):c.1394C>A (p.Thr465Asn) rs758900656
NM_000492.3(CFTR):c.1429C>T (p.Pro477Ser) rs139054556
NM_000492.3(CFTR):c.1430C>A (p.Pro477His) rs886044297
NM_000492.3(CFTR):c.1430C>T (p.Pro477Leu) rs886044297
NM_000492.3(CFTR):c.1436A>C (p.Glu479Ala) rs886043543
NM_000492.3(CFTR):c.1437G>C (p.Glu479Asp) rs754152822
NM_000492.3(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.3(CFTR):c.1440T>G (p.Gly480=) rs1800090
NM_000492.3(CFTR):c.1446T>A (p.Ile482=)
NM_000492.3(CFTR):c.1450C>T (p.His484Tyr) rs397508210
NM_000492.3(CFTR):c.1453A>T (p.Ser485Cys) rs138427145
NM_000492.3(CFTR):c.1454G>C (p.Ser485Thr) rs143980575
NM_000492.3(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.3(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.3(CFTR):c.1479G>C (p.Gln493His) rs1554384373
NM_000492.3(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.3(CFTR):c.1492A>G (p.Met498Val) rs1562898400
NM_000492.3(CFTR):c.1495C>T (p.Pro499Ser) rs397508219
NM_000492.3(CFTR):c.1496C>T (p.Pro499Leu)
NM_000492.3(CFTR):c.1499G>A (p.Gly500Asp) rs774945680
NM_000492.3(CFTR):c.149C>A (p.Ser50Tyr) rs397508220
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1500C>A (p.Gly500=) rs762619288
NM_000492.3(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.3(CFTR):c.1504A>G (p.Ile502Val) rs768243039
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1534T>A (p.Tyr512Asn) rs1562898472
NM_000492.3(CFTR):c.1543T>C (p.Tyr515His) rs778175128
NM_000492.3(CFTR):c.1544A>G (p.Tyr515Cys) rs1554384431
NM_000492.3(CFTR):c.1548A>T (p.Arg516Ser) rs1562898492
NM_000492.3(CFTR):c.1552A>G (p.Arg518Gly) rs1562898497
NM_000492.3(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.3(CFTR):c.1570T>C (p.Cys524Arg)
NM_000492.3(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.3(CFTR):c.1580A>G (p.Glu527Gly) rs374453187
NM_000492.3(CFTR):c.1582G>A (p.Glu528Lys) rs773018372
NM_000492.3(CFTR):c.1583A>G (p.Glu528Gly) rs1562898548
NM_000492.3(CFTR):c.1584+12T>C rs193922502
NM_000492.3(CFTR):c.1584+18672A>G rs397508229
NM_000492.3(CFTR):c.1584+36A>G rs752908476
NM_000492.3(CFTR):c.1584+4A>T rs953352440
NM_000492.3(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1584G>T (p.Glu528Asp) rs1800095
NM_000492.3(CFTR):c.1585-9395C>G rs77164005
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.164+2dup rs1554375870
NM_000492.3(CFTR):c.1680-13A>G rs757981933
NM_000492.3(CFTR):c.1680-2dup rs1554389008
NM_000492.3(CFTR):c.1680-6T>G
NM_000492.3(CFTR):c.1680-829C>G rs1554388879
NM_000492.3(CFTR):c.1680-877G>A rs397508261
NM_000492.3(CFTR):c.1680-885T>C rs1281580863
NM_000492.3(CFTR):c.1680-8C>A rs1562907146
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1691A>G (p.Lys564Arg)
NM_000492.3(CFTR):c.1697C>A (p.Ala566Asp) rs1375786834
NM_000492.3(CFTR):c.16C>G (p.Leu6Val) rs1554373095
NM_000492.3(CFTR):c.1718C>T (p.Ser573Phe) rs772223589
NM_000492.3(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.3(CFTR):c.1731C>T (p.Tyr577=) rs55928397
NM_000492.3(CFTR):c.1734A>G (p.Leu578=) rs201025424
NM_000492.3(CFTR):c.1745C>T (p.Thr582Ile) rs397508293
NM_000492.3(CFTR):c.1763A>G (p.Glu588Gly) rs397508297
NM_000492.3(CFTR):c.1766+73T>G rs397508299
NM_000492.3(CFTR):c.1766+86C>A rs143250367
NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) rs397508300
NM_000492.3(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.3(CFTR):c.1783A>G (p.Met595Val) rs750140050
NM_000492.3(CFTR):c.1792A>G (p.Lys598Glu) rs397508302
NM_000492.3(CFTR):c.1810A>C (p.Thr604Pro) rs1554389267
NM_000492.3(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.3(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.3(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.3(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.3(CFTR):c.1907T>C (p.Leu636Pro) rs374702882
NM_000492.3(CFTR):c.1912C>T (p.Pro638Ser) rs1368033715
NM_000492.3(CFTR):c.1913C>T (p.Pro638Leu) rs1562907846
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.1928A>G (p.Lys643Arg) rs1085307844
NM_000492.3(CFTR):c.1934T>A (p.Met645Lys) rs377731410
NM_000492.3(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.3(CFTR):c.1950C>T (p.Phe650=) rs200204024
NM_000492.3(CFTR):c.196A>G (p.Asn66Asp) rs1060503163
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2015_2017del (p.Glu672del) rs397508330
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) rs397508332
NM_000492.3(CFTR):c.2042A>T (p.Glu681Val) rs201295415
NM_000492.3(CFTR):c.204A>T (p.Lys68Asn) rs397508335
NM_000492.3(CFTR):c.2055A>G (p.Gln685=) rs1457520634
NM_000492.3(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561
NM_000492.3(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.3(CFTR):c.2079T>G (p.Phe693Leu) rs145540754
NM_000492.3(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.3(CFTR):c.2112A>G (p.Pro704=) rs926782023
NM_000492.3(CFTR):c.2145A>C (p.Gln715His)
NM_000492.3(CFTR):c.2147_2148delAGins14 (p.?)
NM_000492.3(CFTR):c.2168G>T (p.Gly723Val) rs200531709
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.2191C>T (p.Pro731Ser) rs1562908065
NM_000492.3(CFTR):c.2193T>C (p.Pro731=) rs886043733
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2251C>T (p.Arg751Cys)
NM_000492.3(CFTR):c.2252G>A (p.Arg751His) rs397508357
NM_000492.3(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.3(CFTR):c.2255T>G (p.Ile752Ser) rs766541549
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.226T>A (p.Cys76Ser) rs757959325
NM_000492.3(CFTR):c.2279C>T (p.Thr760Met) rs397508359
NM_000492.3(CFTR):c.2280G>A (p.Thr760=) rs138634146
NM_000492.3(CFTR):c.2291G>A (p.Arg764Gln) rs1417904716
NM_000492.3(CFTR):c.2327C>T (p.Ser776Leu) rs397508365
NM_000492.3(CFTR):c.2354G>A (p.Arg785Gln)
NM_000492.3(CFTR):c.2372_2377del (p.Thr791_Arg792del) rs1562908169
NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly) rs145449046
NM_000492.3(CFTR):c.2375G>A (p.Arg792Gln) rs369040061
NM_000492.3(CFTR):c.2380G>A (p.Val794Met) rs1457489949
NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser) rs138069616
NM_000492.3(CFTR):c.2402A>G (p.Asn801Ser) rs1562908192
NM_000492.3(CFTR):c.2406G>C (p.Leu802Phe) rs1314080734
NM_000492.3(CFTR):c.2420T>C (p.Ile807Thr) rs1554389471
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs144055758
NM_000492.3(CFTR):c.2427_2429AAG[1] (p.Arg811del) rs1554389478
NM_000492.3(CFTR):c.2433G>T (p.Arg811Ser) rs778688276
NM_000492.3(CFTR):c.244A>G (p.Met82Val) rs1554376431
NM_000492.3(CFTR):c.2450G>T (p.Gly817Val) rs148604667
NM_000492.3(CFTR):c.246G>A (p.Met82Ile) rs1159096947
NM_000492.3(CFTR):c.2476G>A (p.Glu826Lys) rs397508381
NM_000492.3(CFTR):c.2490+14G>T rs573016418
NM_000492.3(CFTR):c.2490+19G>C rs368353825
NM_000492.3(CFTR):c.2490+4_2490+6dup rs1554389497
NM_000492.3(CFTR):c.2490+5G>T rs764466147
NM_000492.3(CFTR):c.2502T>G (p.Phe834Leu) rs200735475
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.250T>C (p.Tyr84His) rs745756794
NM_000492.3(CFTR):c.2526A>G (p.Ala842=) rs758128209
NM_000492.3(CFTR):c.2540A>G (p.Asn847Ser)
NM_000492.3(CFTR):c.2544A>T (p.Thr848=) rs751242146
NM_000492.3(CFTR):c.2545T>A (p.Tyr849Asn)
NM_000492.3(CFTR):c.2552G>A (p.Arg851Gln) rs397508395
NM_000492.3(CFTR):c.2557A>G (p.Ile853Val) rs780187979
NM_000492.3(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2561_2562delinsTG (p.Thr854Met) rs1554389814
NM_000492.3(CFTR):c.2562_2563delinsGA (p.Val855Ile)
NM_000492.3(CFTR):c.2563G>A (p.Val855Ile) rs397508397
NM_000492.3(CFTR):c.2566_2567insTAC (p.His856_Lys857insLeu) rs774507425
NM_000492.3(CFTR):c.256A>G (p.Ile86Val)
NM_000492.3(CFTR):c.2570A>G (p.Lys857Arg)
NM_000492.3(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506
NM_000492.3(CFTR):c.2619+17G>T rs1439697748
NM_000492.3(CFTR):c.2619+3A>G rs397508408
NM_000492.3(CFTR):c.2619G>A (p.Glu873=) rs397508409
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2620-6T>C rs371315682
NM_000492.3(CFTR):c.2620-97C>T rs146376436
NM_000492.3(CFTR):c.2627C>T (p.Ala876Val) rs1472821278
NM_000492.3(CFTR):c.2629T>G (p.Ser877Ala) rs761531223
NM_000492.3(CFTR):c.2657+17C>T rs368543375
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2659A>C (p.Thr887Pro) rs770359007
NM_000492.3(CFTR):c.2665C>T (p.Leu889Phe)
NM_000492.3(CFTR):c.2672A>G (p.Asp891Gly) rs766181463
NM_000492.3(CFTR):c.2673C>G (p.Asp891Glu) rs776350132
NM_000492.3(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.3(CFTR):c.2687C>T (p.Thr896Ile) rs752617117
NM_000492.3(CFTR):c.26C>T (p.Ala9Val) rs949472192
NM_000492.3(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.3(CFTR):c.2719A>G (p.Ile907Val) rs397508423
NM_000492.3(CFTR):c.273+10255delC rs193922507
NM_000492.3(CFTR):c.273+8T>A rs1189108407
NM_000492.3(CFTR):c.2732G>C (p.Ser911Thr) rs746301481
NM_000492.3(CFTR):c.2733T>G (p.Ser911Arg) rs1562911534
NM_000492.3(CFTR):c.2734T>A (p.Ser912Thr) rs1554390984
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2736G>A (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2736G>C (p.Ser912=)
NM_000492.3(CFTR):c.274-13T>C rs1021474992
NM_000492.3(CFTR):c.274-3T>C rs1554379763
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2743G>C (p.Val915Leu)
NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.3(CFTR):c.2762G>A (p.Gly921Glu) rs193922508
NM_000492.3(CFTR):c.2766A>G (p.Val922=) rs762906556
NM_000492.3(CFTR):c.2769C>T (p.Ala923=) rs1800108
NM_000492.3(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) rs201759207
NM_000492.3(CFTR):c.2770G>C (p.Asp924His)
NM_000492.3(CFTR):c.2772C>A (p.Asp924Glu) rs1562911610
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.2806C>A (p.Pro936Thr) rs780528577
NM_000492.3(CFTR):c.2812G>C (p.Val938Leu) rs749784731
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2815C>G (p.His939Asp) rs397508439
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2836A>G (p.Lys946Glu)
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2856G>A (p.Met952Ile)
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2876C>T (p.Ala959Val) rs397508448
NM_000492.3(CFTR):c.2878C>T (p.Pro960Ser) rs185397588
NM_000492.3(CFTR):c.2882T>C (p.Met961Thr) rs769377991
NM_000492.3(CFTR):c.2895C>A (p.Asn965Lys)
NM_000492.3(CFTR):c.2899T>C (p.Leu967=) rs1554391080
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.3(CFTR):c.2908+19G>C rs370683572
NM_000492.3(CFTR):c.2908+3A>C rs1554391091
NM_000492.3(CFTR):c.2908+4C>A
NM_000492.3(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.2909-4A>G rs397508457
NM_000492.3(CFTR):c.2909-8_2909-7insTAAT rs1554391448
NM_000492.3(CFTR):c.290T>C (p.Val97Ala) rs1235363099
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2938A>G (p.Ile980Val) rs1554391473
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.2946T>G (p.Ile982Met)
NM_000492.3(CFTR):c.2973A>G (p.Ile991Met) rs370181570
NM_000492.3(CFTR):c.2974T>C (p.Phe992Leu)
NM_000492.3(CFTR):c.2976T>A (p.Phe992Leu) rs758250836
NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys) rs397508469
NM_000492.3(CFTR):c.2988+13A>T rs1182945291
NM_000492.3(CFTR):c.2988+20G>A rs183819332
NM_000492.3(CFTR):c.2988+47dup rs149902649
NM_000492.3(CFTR):c.2988+99T>C rs148764664
NM_000492.3(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.3(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.3(CFTR):c.316A>G (p.Ile106Val) rs1024092547
NM_000492.3(CFTR):c.319G>C (p.Ala107Pro) rs1562889219
NM_000492.3(CFTR):c.31G>A (p.Val11Ile) rs1800072
NM_000492.3(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.3(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.3(CFTR):c.328G>A (p.Asp110Asn) rs113993958
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.3(CFTR):c.332C>G (p.Pro111Arg) rs140502196
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3368-20C>T rs761144879
NM_000492.3(CFTR):c.3368-4A>G
NM_000492.3(CFTR):c.3376_3381dup rs1554392764
NM_000492.3(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483
NM_000492.3(CFTR):c.3382A>G (p.Arg1128Gly) rs397508549
NM_000492.3(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044
NM_000492.3(CFTR):c.3409A>G (p.Met1137Val) rs397508553
NM_000492.3(CFTR):c.340_342del (p.Lys114del) rs1554379808
NM_000492.3(CFTR):c.3410T>C (p.Met1137Thr) rs397508555
NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) rs397508556
NM_000492.3(CFTR):c.3420G>A (p.Met1140Ile) rs1554392775
NM_000492.3(CFTR):c.3429G>A (p.Leu1143=) rs375845215
NM_000492.3(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565
NM_000492.3(CFTR):c.3452T>A (p.Ile1151Lys)
NM_000492.3(CFTR):c.3457G>A (p.Val1153Met)
NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu) rs397508567
NM_000492.3(CFTR):c.3460G>T (p.Asp1154Tyr) rs397508568
NM_000492.3(CFTR):c.3468+6T>A rs547442588
NM_000492.3(CFTR):c.3468+6T>C rs547442588
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3473G>A (p.Arg1158Gln)
NM_000492.3(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.3503A>G (p.Asp1168Gly) rs150326506
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.3(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.355A>G (p.Ile119Val) rs193922518
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.3573G>A (p.Met1191Ile) rs1359962349
NM_000492.3(CFTR):c.3577A>G (p.Ile1193Val) rs1562919375
NM_000492.3(CFTR):c.3588A>T (p.Ser1196=)
NM_000492.3(CFTR):c.358G>A (p.Ala120Thr) rs201958172
NM_000492.3(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.3(CFTR):c.3592G>A (p.Val1198Met)
NM_000492.3(CFTR):c.359C>T (p.Ala120Val) rs1265244783
NM_000492.3(CFTR):c.3601G>T (p.Asp1201Tyr) rs1182767623
NM_000492.3(CFTR):c.3607A>G (p.Ile1203Val) rs75647395
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666
NM_000492.3(CFTR):c.3628A>C (p.Met1210Leu)
NM_000492.3(CFTR):c.3628A>G (p.Met1210Val) rs151264397
NM_000492.3(CFTR):c.3642T>A (p.Asp1214Glu)
NM_000492.3(CFTR):c.3650C>T (p.Ala1217Val) rs749662161
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.365A>G (p.Tyr122Cys) rs377295859
NM_000492.3(CFTR):c.3665G>A (p.Gly1222Asp) rs1562919449
NM_000492.3(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.3(CFTR):c.3682G>A (p.Glu1228Lys) rs759116351
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3709G>A (p.Gly1237Ser) rs1554394076
NM_000492.3(CFTR):c.3710G>A (p.Gly1237Asp)
NM_000492.3(CFTR):c.3713A>G (p.Gln1238Arg) rs397508594
NM_000492.3(CFTR):c.3717+130_3717+131del rs4148721
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3718-24G>A rs374013084
NM_000492.3(CFTR):c.372C>T (p.Gly124=) rs1060503162
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040
NM_000492.3(CFTR):c.3747G>A (p.Gly1249=) rs794727373
NM_000492.3(CFTR):c.3749_3751dup (p.Lys1250dup)
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3759G>A (p.Leu1253=) rs117400534
NM_000492.3(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.3(CFTR):c.3767C>T (p.Ala1256Val) rs773852510
NM_000492.3(CFTR):c.3772T>C (p.Leu1258=) rs202074317
NM_000492.3(CFTR):c.377G>T (p.Gly126Val)
NM_000492.3(CFTR):c.3787A>G (p.Thr1263Ala) rs1554395363
NM_000492.3(CFTR):c.3789T>C (p.Thr1263=) rs200921635
NM_000492.3(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.3(CFTR):c.3803A>G (p.Gln1268Arg) rs766370233
NM_000492.3(CFTR):c.3807C>G (p.Ile1269Met)
NM_000492.3(CFTR):c.3807C>T (p.Ile1269=) rs1800129
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3815T>A (p.Val1272Glu) rs752834717
NM_000492.3(CFTR):c.3836T>C (p.Leu1279Ser) rs1286786026
NM_000492.3(CFTR):c.3842A>G (p.Gln1281Arg) rs752127256
NM_000492.3(CFTR):c.3846G>C (p.Trp1282Cys)
NM_000492.3(CFTR):c.3848G>A (p.Arg1283Lys) rs77902683
NM_000492.3(CFTR):c.3852A>G (p.Lys1284=)
NM_000492.3(CFTR):c.3853G>A (p.Ala1285Thr)
NM_000492.3(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.3(CFTR):c.3868C>A (p.Pro1290Thr) rs397508619
NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.3(CFTR):c.3873+7A>T
NM_000492.3(CFTR):c.3873G>C (p.Gln1291His) rs121909015
NM_000492.3(CFTR):c.3874-103delT rs1282290289
NM_000492.3(CFTR):c.3874-14C>G rs184271150
NM_000492.3(CFTR):c.3874-21_3874-15dup rs1554396379
NM_000492.3(CFTR):c.3874-4522A>G rs895394181
NM_000492.3(CFTR):c.3874-4A>G rs201381687
NM_000492.3(CFTR):c.3874-8T>A rs397508625
NM_000492.3(CFTR):c.3877G>A (p.Val1293Ile) rs769931559
NM_000492.3(CFTR):c.3893G>C (p.Gly1298Ala) rs193922522
NM_000492.3(CFTR):c.3893G>T (p.Gly1298Val)
NM_000492.3(CFTR):c.3895A>G (p.Thr1299Ala)
NM_000492.3(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.3908A>C (p.Asn1303Thr) rs397508636
NM_000492.3(CFTR):c.3933T>G (p.Ser1311Arg) rs962313398
NM_000492.3(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646
NM_000492.3(CFTR):c.3937C>A (p.Gln1313Lys) rs121909026
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.3(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.3(CFTR):c.3964-16T>C rs199672530
NM_000492.3(CFTR):c.3964-28G>A rs397508651
NM_000492.3(CFTR):c.3969G>A (p.Gly1323=) rs886061952
NM_000492.3(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.3(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.3(CFTR):c.4018G>C (p.Val1340Leu) rs1554397492
NM_000492.3(CFTR):c.401G>A (p.Arg134Lys)
NM_000492.3(CFTR):c.4027G>A (p.Gly1343Ser) rs747324955
NM_000492.3(CFTR):c.4028G>T (p.Gly1343Val) rs773458471
NM_000492.3(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311
NM_000492.3(CFTR):c.4036C>T (p.Leu1346=) rs1562928908
NM_000492.3(CFTR):c.403A>G (p.Thr135Ala)
NM_000492.3(CFTR):c.4045G>A (p.Gly1349Ser) rs201686600
NM_000492.3(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.3(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4061T>C (p.Met1354Thr) rs755993775
NM_000492.3(CFTR):c.4061T>G (p.Met1354Arg) rs755993775
NM_000492.3(CFTR):c.4064G>T (p.Cys1355Phe) rs755028771
NM_000492.3(CFTR):c.4085G>A (p.Ser1362Asn) rs777892053
NM_000492.3(CFTR):c.4087A>C (p.Lys1363Gln) rs1060503166
NM_000492.3(CFTR):c.4091C>T (p.Ala1364Val) rs397508670
NM_000492.3(CFTR):c.4096A>T (p.Ile1366Phe) rs770345073
NM_000492.3(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.3(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.3(CFTR):c.40A>G (p.Lys14Glu) rs397508673
NM_000492.3(CFTR):c.410T>C (p.Leu137Pro)
NM_000492.3(CFTR):c.4115C>T (p.Pro1372Leu) rs397508677
NM_000492.3(CFTR):c.4118G>T (p.Ser1373Ile) rs587780313
NM_000492.3(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.3(CFTR):c.4123C>A (p.His1375Asn) rs146947665
NM_000492.3(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.3(CFTR):c.4136+14G>A rs1389376517
NM_000492.3(CFTR):c.4137-7T>C rs1400171855
NM_000492.3(CFTR):c.4137-9C>T rs1562929122
NM_000492.3(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.3(CFTR):c.4142A>G (p.Tyr1381Cys) rs776388660
NM_000492.3(CFTR):c.4159A>G (p.Thr1387Ala) rs1455404428
NM_000492.3(CFTR):c.4162C>G (p.Leu1388Val) rs1554397584
NM_000492.3(CFTR):c.416A>C (p.His139Pro) rs76371115
NM_000492.3(CFTR):c.4184G>T (p.Cys1395Phe) rs1330281974
NM_000492.3(CFTR):c.4186A>C (p.Thr1396Pro)
NM_000492.3(CFTR):c.418C>T (p.Pro140Ser) rs145900055
NM_000492.3(CFTR):c.4190T>A (p.Val1397Glu) rs397508691
NM_000492.3(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692
NM_000492.3(CFTR):c.4195C>G (p.Leu1399Val) rs1562929162
NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4197C>T (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.41A>T (p.Lys14Ile) rs772774651
NM_000492.3(CFTR):c.4202A>G (p.Glu1401Gly) rs397508697
NM_000492.3(CFTR):c.4207A>G (p.Arg1403Gly) rs970498675
NM_000492.3(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699
NM_000492.3(CFTR):c.4230C>G (p.Cys1410Trp) rs1165501753
NM_000492.3(CFTR):c.4232A>C (p.Gln1411Pro) rs150177304
NM_000492.3(CFTR):c.4241T>C (p.Leu1414Ser) rs397508703
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4242+19A>C rs1554397608
NM_000492.3(CFTR):c.4242+6T>C rs1562929200
NM_000492.3(CFTR):c.424A>G (p.Ile142Val) rs1562889369
NM_000492.3(CFTR):c.426T>C (p.Ile142=) rs1554379864
NM_000492.3(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.449T>G (p.Met150Arg) rs1562889397
NM_000492.3(CFTR):c.451C>A (p.Gln151Lys) rs397508720
NM_000492.3(CFTR):c.454A>T (p.Met152Leu) rs397508721
NM_000492.3(CFTR):c.456G>A (p.Met152Ile)
NM_000492.3(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.3(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.3(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.3(CFTR):c.488A>C (p.Lys163Thr) rs1562889435
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.489+87A>G
NM_000492.3(CFTR):c.489+8T>G rs727504712
NM_000492.3(CFTR):c.490A>G (p.Thr164Ala) rs200885306
NM_000492.3(CFTR):c.503C>T (p.Ser168Leu) rs869249241
NM_000492.3(CFTR):c.505A>G (p.Ser169Gly) rs1554380309
NM_000492.3(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.3(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.3(CFTR):c.53+34_53+35delAC rs762372419
NM_000492.3(CFTR):c.53+45A>G rs372316624
NM_000492.3(CFTR):c.53+4A>T rs372610364
NM_000492.3(CFTR):c.530T>C (p.Ile177Thr) rs397508747
NM_000492.3(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.3(CFTR):c.535C>A (p.Gln179Lys) rs367850319
NM_000492.3(CFTR):c.54-13C>G rs397508749
NM_000492.3(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.3(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.3(CFTR):c.561C>A (p.Asn187Lys) rs397508754
NM_000492.3(CFTR):c.561C>T (p.Asn187=)
NM_000492.3(CFTR):c.563T>C (p.Leu188Pro) rs766640075
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.575A>T (p.Asp192Val) rs397508758
NM_000492.3(CFTR):c.579+34A>G rs148209839
NM_000492.3(CFTR):c.581G>T (p.Gly194Val)
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.592G>C (p.Ala198Pro) rs193922529
NM_000492.3(CFTR):c.598T>A (p.Phe200Ile) rs397508766
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.610G>A (p.Ala204Thr) rs748026786
NM_000492.3(CFTR):c.610G>T (p.Ala204Ser) rs748026786
NM_000492.3(CFTR):c.613C>A (p.Pro205Thr)
NM_000492.3(CFTR):c.634A>G (p.Met212Val)
NM_000492.3(CFTR):c.638G>A (p.Gly213Glu) rs775701644
NM_000492.3(CFTR):c.640C>G (p.Leu214Val) rs188457893
NM_000492.3(CFTR):c.648G>T (p.Trp216Cys) rs397508776
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.662C>T (p.Ala221Val) rs752432390
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.676G>C (p.Gly226Arg) rs1562890588
NM_000492.3(CFTR):c.688C>T (p.Leu230=)
NM_000492.3(CFTR):c.697C>G (p.Leu233Val) rs775713428
NM_000492.3(CFTR):c.701C>A (p.Ala234Asp) rs769016520
NM_000492.3(CFTR):c.710A>G (p.Gln237Arg) rs1554380493
NM_000492.3(CFTR):c.711G>C (p.Gln237His) rs397508785
NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) rs397508788
NM_000492.3(CFTR):c.720A>G (p.Leu240=) rs1344097861
NM_000492.3(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.3(CFTR):c.743+4G>T rs193922530
NM_000492.3(CFTR):c.744-11T>C rs1554380747
NM_000492.3(CFTR):c.744-32A>G rs1562890936
NM_000492.3(CFTR):c.744-33GATT[5] rs1805171
NM_000492.3(CFTR):c.744-6T>G rs878854022
NM_000492.3(CFTR):c.766A>G (p.Ser256Gly)
NM_000492.3(CFTR):c.76A>G (p.Lys26Glu)
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.773G>T (p.Arg258Ile) rs377514639
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.806T>C (p.Ile269Thr)
NM_000492.3(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.3(CFTR):c.80G>T (p.Gly27Val) rs397508797
NM_000492.3(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn) rs1554380796
NM_000492.3(CFTR):c.837A>T (p.Glu279Asp) rs773509355
NM_000492.3(CFTR):c.842T>C (p.Met281Thr) rs397508802
NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) rs142864834
NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) rs397508804
NM_000492.3(CFTR):c.861C>G (p.Asn287Lys) rs112162204
NM_000492.3(CFTR):c.869+14A>G rs1554380834
NM_000492.3(CFTR):c.869+25A>G rs1554380840
NM_000492.3(CFTR):c.869+3A>C rs1554380828
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.869+8G>C rs773933167
NM_000492.3(CFTR):c.869+8G>T rs773933167
NM_000492.3(CFTR):c.870-5dup rs759762840
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) rs397508814
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.895G>A (p.Ala299Thr) rs1180803268
NM_000492.3(CFTR):c.902A>G (p.Tyr301Cys) rs150691494
NM_000492.3(CFTR):c.913T>G (p.Phe305Val) rs201885470
NM_000492.3(CFTR):c.914T>G (p.Phe305Cys) rs1562892143
NM_000492.3(CFTR):c.918T>C (p.Asn306=) rs200046355
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.925G>A (p.Ala309Thr) rs148013312
NM_000492.3(CFTR):c.926C>A (p.Ala309Asp) rs397508818
NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) rs397508818
NM_000492.3(CFTR):c.926C>T (p.Ala309Val) rs397508818
NM_000492.3(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) rs149353983
NM_000492.3(CFTR):c.932T>G (p.Phe311Cys)
NM_000492.3(CFTR):c.940G>C (p.Gly314Arg) rs397508819
NM_000492.3(CFTR):c.940G>T (p.Gly314Trp) rs397508819
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000492.3(CFTR):c.944T>C (p.Phe315Ser) rs760319837
NM_000492.3(CFTR):c.947T>A (p.Phe316Tyr) rs779201407
NM_000492.3(CFTR):c.948T>G (p.Phe316Leu) rs78742051
NM_000492.3(CFTR):c.94C>A (p.Leu32Met) rs776797377
NM_000492.3(CFTR):c.950T>C (p.Val317Ala) rs1204521684
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.3(CFTR):c.960A>C (p.Leu320Phe) rs56093012
NM_000492.3(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.3(CFTR):c.960A>T (p.Leu320Phe) rs56093012
NM_000492.3(CFTR):c.964G>A (p.Val322Met) rs1800085
NM_000492.3(CFTR):c.971C>T (p.Pro324Leu) rs397508822
NM_000492.3(CFTR):c.972C>G (p.Pro324=) rs1799834
NM_000492.3(CFTR):c.974A>G (p.Tyr325Cys)
NM_000492.3(CFTR):c.992T>A (p.Ile331Asn) rs397508825
NM_000492.3(CFTR):c.[1210-16_1210-13dup;1210-6delT]
Single allele

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