ClinVar Miner

List of variants in gene CFTR studied for Cystic fibrosis

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 1199
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HGVS dbSNP
CFTR, ALA445GLU
CFTR, GLN524HIS
CFTR, HIS1282TER
NC_000007.13:g.(?_117144294)_(117144445_?)del
NC_000007.13:g.(?_117267556)_(117267869_?)dup
NC_000007.13:g.(?_117304732)_(117305628_?)del
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1524+1_1525-1)del rs1562894928
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del
NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del
NM_000492.3(CFTR):c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del
NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del
NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(2622+1_2623-1)_(2751+1_2752-1)del rs1562908889
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1679+1_1680-1)del
NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(3367+1_3368-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3717+1_3718-1)del
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3873+1_3874-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
NM_000492.3(CFTR):c.(405+1_406-1)_(621+1_622-1)del rs1562889180
NM_000492.3(CFTR):c.(405+1_406-1)_(711+1_712-1)del
NM_000492.3(CFTR):c.(4095+1_4096-1)_(4374+1_4375-1)del rs1562928854
NM_000492.3(CFTR):c.(53+1_54-1)_(164+1_165-1)del
NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del
NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup
NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del
NM_000492.3(CFTR):c.*1031A>G rs886061954
NM_000492.3(CFTR):c.*1043A>C rs10234329
NM_000492.3(CFTR):c.*1249T>C rs150494700
NM_000492.3(CFTR):c.*124_*125insC rs1554397824
NM_000492.3(CFTR):c.*1251C>T rs1042180
NM_000492.3(CFTR):c.*1294G>A rs55831234
NM_000492.3(CFTR):c.*133delT rs145697705
NM_000492.3(CFTR):c.*144C>T rs149810643
NM_000492.3(CFTR):c.*1545C>T rs886061955
NM_000492.3(CFTR):c.*303G>C rs755544507
NM_000492.3(CFTR):c.*325A>G rs17140308
NM_000492.3(CFTR):c.*442C>T rs180783619
NM_000492.3(CFTR):c.*684A>G rs146818281
NM_000492.3(CFTR):c.*80T>G rs397508135
NM_000492.3(CFTR):c.*842delA rs886061953
NM_000492.3(CFTR):c.*881C>T rs371815480
NM_000492.3(CFTR):c.*94C>T rs144214399
NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) rs121909011
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.3(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138
NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.3(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.3(CFTR):c.1012A>G (p.Thr338Ala) rs397508142
NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) rs77409459
NM_000492.3(CFTR):c.1019_1020TC[3] (p.Phe342fs) rs387906360
NM_000492.3(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.3(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.3(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys) rs397508147
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.3(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1059A>C (p.Gln353His) rs1800087
NM_000492.3(CFTR):c.105dup (p.Asp36fs) rs397508149
NM_000492.3(CFTR):c.1067G>C (p.Trp356Ser) rs573808767
NM_000492.3(CFTR):c.1069del (p.Ala357fs) rs397508151
NM_000492.3(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) rs397508152
NM_000492.3(CFTR):c.1081T>A (p.Trp361Arg) rs397508154
NM_000492.3(CFTR):c.1081del (p.Trp361fs) rs387906361
NM_000492.3(CFTR):c.1083del (p.Trp361fs) rs387906375
NM_000492.3(CFTR):c.1084_1088dup (p.Ser364fs) rs1562892359
NM_000492.3(CFTR):c.1086T>A (p.Tyr362Ter) rs397508155
NM_000492.3(CFTR):c.1086T>G (p.Tyr362Ter) rs397508155
NM_000492.3(CFTR):c.1089_1090CT[2] (p.Leu365fs) rs387906365
NM_000492.3(CFTR):c.1094T>C (p.Leu365Pro) rs76727851
NM_000492.3(CFTR):c.1106_1111dup (p.Asn369_Lys370dup) rs397508156
NM_000492.3(CFTR):c.110_111TA[1] (p.Tyr38fs) rs397508162
NM_000492.3(CFTR):c.1115del (p.Gln372fs) rs1562892387
NM_000492.3(CFTR):c.1116+1G>A rs397508158
NM_000492.3(CFTR):c.1116+1G>C rs397508158
NM_000492.3(CFTR):c.1116+1G>T rs397508158
NM_000492.3(CFTR):c.1116G>T (p.Gln372His)
NM_000492.3(CFTR):c.1117-1G>A rs797045160
NM_000492.3(CFTR):c.1117-27_1117-26delTA rs397508159
NM_000492.3(CFTR):c.1117-2A>G rs1554381596
NM_000492.3(CFTR):c.1117-31A>G rs1554381590
NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.3(CFTR):c.1125A>C (p.Leu375Phe) rs73215912
NM_000492.3(CFTR):c.1126C>T (p.Gln376Ter) rs1562892823
NM_000492.3(CFTR):c.1130dup (p.Gln378fs) rs397508163
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.1135G>T (p.Glu379Ter) rs397508165
NM_000492.3(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.3(CFTR):c.1148T>C (p.Leu383Ser) rs397508166
NM_000492.3(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.3(CFTR):c.1152del (p.Glu384fs) rs397508167
NM_000492.3(CFTR):c.1153_1154TA[3] (p.Asn386fs) rs121908785
NM_000492.3(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1175T>C (p.Val392Ala) rs397508170
NM_000492.3(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.3(CFTR):c.1177del (p.Val392_Val393insTer) rs397508171
NM_000492.3(CFTR):c.1186A>T (p.Asn396Tyr) rs753143757
NM_000492.3(CFTR):c.1196C>A (p.Ala399Asp) rs146463120
NM_000492.3(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.3(CFTR):c.1197del (p.Phe400fs) rs1562892895
NM_000492.3(CFTR):c.1199T>C (p.Phe400Ser)
NM_000492.3(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.3(CFTR):c.1202G>A (p.Trp401Ter) rs397508174
NM_000492.3(CFTR):c.1203G>A (p.Trp401Ter) rs397508175
NM_000492.3(CFTR):c.1209+18A>C rs193922499
NM_000492.3(CFTR):c.1209+1G>A rs397508176
NM_000492.3(CFTR):c.1209+1G>T rs397508176
NM_000492.3(CFTR):c.1209+6A>G rs749054857
NM_000492.3(CFTR):c.1209+80G>A rs948980243
NM_000492.3(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.3(CFTR):c.1209G>C (p.Glu403Asp) rs397508177
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1210-1G>C rs397508178
NM_000492.3(CFTR):c.1211G>T (p.Gly404Val) rs1324302547
NM_000492.3(CFTR):c.1211delG rs1235397597
NM_000492.3(CFTR):c.1217G>A (p.Gly406Glu)
NM_000492.3(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.3(CFTR):c.1220A>T (p.Glu407Val) rs397508180
NM_000492.3(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.3(CFTR):c.1234del (p.Ala412fs) rs397508181
NM_000492.3(CFTR):c.1235del (p.Ala412fs) rs397508182
NM_000492.3(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
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.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.1301C>A (p.Ser434Ter) rs367934560
NM_000492.3(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.3(CFTR):c.1301_1307del (p.Ser434fs) rs397508186
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1315C>T (p.Pro439Ser) rs397508187
NM_000492.3(CFTR):c.1317T>G (p.Pro439=) rs1562895052
NM_000492.3(CFTR):c.13196C>T rs1554398510
NM_000492.3(CFTR):c.131A>G (p.Asp44Gly) rs1800074
NM_000492.3(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.3(CFTR):c.1324A>T (p.Lys442Ter)
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.3(CFTR):c.1328_1329AT[1] (p.Asp443_Ile444insTer) rs397508190
NM_000492.3(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_000492.3(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.3(CFTR):c.1331T>G (p.Ile444Ser) rs397508191
NM_000492.3(CFTR):c.1340del (p.Lys447fs) rs397508192
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.1358T>C (p.Leu453Ser) rs1562895128
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1365_1366del (p.Val456fs) rs797045161
NM_000492.3(CFTR):c.1366G>T (p.Val456Phe) rs397508195
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.3(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.3(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.3(CFTR):c.137C>T (p.Ala46Val)
NM_000492.3(CFTR):c.1393-18G>A rs397508199
NM_000492.3(CFTR):c.1393-1G>A rs397508200
NM_000492.3(CFTR):c.1393-2A>G rs397508201
NM_000492.3(CFTR):c.1393-42G>A rs34906874
NM_000492.3(CFTR):c.1397C>A (p.Ser466Ter) rs121908805
NM_000492.3(CFTR):c.1397C>G (p.Ser466Ter) rs121908805
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) rs139573311
NM_000492.3(CFTR):c.1403T>C (p.Leu468Pro) rs397508202
NM_000492.3(CFTR):c.1405A>G (p.Met469Val) rs397508203
NM_000492.3(CFTR):c.1407G>T (p.Met469Ile) rs143218779
NM_000492.3(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.3(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.3(CFTR):c.1415dup (p.Met472fs) rs1554384343
NM_000492.3(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.3(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
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.1437G>C (p.Glu479Asp) rs754152822
NM_000492.3(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.143_146ATCT[1] (p.Ser50fs) rs1562882755
NM_000492.3(CFTR):c.1446dup (p.Lys483Ter) rs397508209
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.1466C>A (p.Ser489Ter) rs397508211
NM_000492.3(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter) rs77101217
NM_000492.3(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.3(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.3(CFTR):c.1478A>G (p.Gln493Arg) rs397508214
NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.3(CFTR):c.148T>C (p.Ser50Pro) rs397508217
NM_000492.3(CFTR):c.1495C>G (p.Pro499Ala) 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.1501A>G (p.Thr501Ala) rs397508221
NM_000492.3(CFTR):c.1504A>G (p.Ile502Val) rs768243039
NM_000492.3(CFTR):c.1505T>C (p.Ile502Thr) rs397508222
NM_000492.3(CFTR):c.1505T>G (p.Ile502Ser) rs397508222
NM_000492.3(CFTR):c.1510G>C (p.Glu504Gln) rs397508223
NM_000492.3(CFTR):c.1510G>T (p.Glu504Ter) rs397508223
NM_000492.3(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1516_1518ATC[1] (p.Ile507del) rs121908745
NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.3(CFTR):c.1517T>G (p.Ile506Ser) rs397508224
NM_000492.3(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) rs1801178
NM_000492.3(CFTR):c.1519A>T (p.Ile507Phe) rs1801178
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1525G>C (p.Gly509Arg) rs1562898465
NM_000492.3(CFTR):c.1530_1531del (p.Ser511fs) rs1562898471
NM_000492.3(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.3(CFTR):c.1543T>C (p.Tyr515His) rs778175128
NM_000492.3(CFTR):c.1543_1544TA[1] (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.3(CFTR):c.1543_1555del (p.Tyr515fs)
NM_000492.3(CFTR):c.1547_1548del (p.Arg516fs) rs1562898489
NM_000492.3(CFTR):c.1548A>T (p.Arg516Ser) rs1562898492
NM_000492.3(CFTR):c.1550A>G (p.Tyr517Cys) rs1562898496
NM_000492.3(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.3(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.3(CFTR):c.1559T>A (p.Val520Asp) rs1562898510
NM_000492.3(CFTR):c.1570T>C (p.Cys524Arg)
NM_000492.3(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter) rs121908754
NM_000492.3(CFTR):c.1573C>T (p.Gln525Ter) rs397508227
NM_000492.3(CFTR):c.1580A>G (p.Glu527Gly) rs374453187
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1582G>A (p.Glu528Lys) rs773018372
NM_000492.3(CFTR):c.1584+11_1584+13dup rs1554384454
NM_000492.3(CFTR):c.1584+12T>C rs193922502
NM_000492.3(CFTR):c.1584+18672A>G rs397508229
NM_000492.3(CFTR):c.1584+1G>A rs397508230
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.164+12T>C rs121908790
NM_000492.3(CFTR):c.164+1G>A rs397508243
NM_000492.3(CFTR):c.164+1G>C rs397508243
NM_000492.3(CFTR):c.164+1G>T rs397508243
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.164+2T>A rs121908800
NM_000492.3(CFTR):c.164+2T>C rs121908800
NM_000492.3(CFTR):c.164+2dup rs1554375870
NM_000492.3(CFTR):c.164+3_164+4insT rs397508244
NM_000492.3(CFTR):c.164+9A>T rs397508245
NM_000492.3(CFTR):c.1680-1G>A rs121908794
NM_000492.3(CFTR):c.1680-1G>C rs121908794
NM_000492.3(CFTR):c.1680-26T>C rs397508265
NM_000492.3(CFTR):c.1680-2dup rs1554389008
NM_000492.3(CFTR):c.1680-870T>A rs213965
NM_000492.3(CFTR):c.1680-877G>T rs397508261
NM_000492.3(CFTR):c.1680-883A>G rs1554388867
NM_000492.3(CFTR):c.1680-885T>C rs1281580863
NM_000492.3(CFTR):c.1680-886A>G rs397508266
NM_000492.3(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) rs121909047
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.1687T>A (p.Tyr563Asn) rs121909006
NM_000492.3(CFTR):c.1687T>C (p.Tyr563His) rs121909006
NM_000492.3(CFTR):c.1687T>G (p.Tyr563Asp) rs121909006
NM_000492.3(CFTR):c.1691A>G (p.Lys564Arg)
NM_000492.3(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.3(CFTR):c.1694A>G (p.Asp565Gly) rs397508270
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.1703T>A (p.Leu568Ter) rs397508273
NM_000492.3(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.3(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.3(CFTR):c.1705T>C (p.Tyr569His) rs397508276
NM_000492.3(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276
NM_000492.3(CFTR):c.1706A>G (p.Tyr569Cys) rs397508277
NM_000492.3(CFTR):c.1707T>A (p.Tyr569Ter) rs397508278
NM_000492.3(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.3(CFTR):c.1714G>A (p.Asp572Asn) rs397508282
NM_000492.3(CFTR):c.1714_1715del (p.Asp572fs) rs397508281
NM_000492.3(CFTR):c.1720C>T (p.Pro574Ser) rs397508283
NM_000492.3(CFTR):c.1721C>A (p.Pro574His) rs121908758
NM_000492.3(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201
NM_000492.3(CFTR):c.1726G>T (p.Gly576Ter) rs397508284
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.1733_1734del (p.Leu578fs) rs1562907232
NM_000492.3(CFTR):c.1734A>G (p.Leu578=) rs201025424
NM_000492.3(CFTR):c.1735G>T (p.Asp579Tyr) rs397508287
NM_000492.3(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.3(CFTR):c.1738del (p.Val580fs) rs397508289
NM_000492.3(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.3(CFTR):c.1745C>G (p.Thr582Arg) rs397508293
NM_000492.3(CFTR):c.1745C>T (p.Thr582Ile) rs397508293
NM_000492.3(CFTR):c.1753G>T (p.Glu585Ter) rs397508296
NM_000492.3(CFTR):c.1760T>C (p.Phe587Ser) rs1562907260
NM_000492.3(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.3(CFTR):c.1766+1G>A rs121908748
NM_000492.3(CFTR):c.1766+1G>C rs121908748
NM_000492.3(CFTR):c.1766+1G>T rs121908748
NM_000492.3(CFTR):c.1766+2T>A rs1554389062
NM_000492.3(CFTR):c.1766+2T>C rs1554389062
NM_000492.3(CFTR):c.1766+3A>C rs397508298
NM_000492.3(CFTR):c.1766+3A>G rs397508298
NM_000492.3(CFTR):c.1766+5G>A rs121908796
NM_000492.3(CFTR):c.1766+5G>T rs121908796
NM_000492.3(CFTR):c.1766+73T>G rs397508299
NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) rs397508300
NM_000492.3(CFTR):c.1766G>C (p.Ser589Thr) rs397508300
NM_000492.3(CFTR):c.1766G>T (p.Ser589Ile) rs397508300
NM_000492.3(CFTR):c.1767-1G>A rs1554389241
NM_000492.3(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.3(CFTR):c.1786_1787del (p.Met595_Ala596insTer) rs397508301
NM_000492.3(CFTR):c.1792A>G (p.Lys598Glu) rs397508302
NM_000492.3(CFTR):c.1792_1798del (p.Lys598fs) rs397508303
NM_000492.3(CFTR):c.1798A>G (p.Arg600Gly) rs397508305
NM_000492.3(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.3(CFTR):c.1802T>C (p.Ile601Thr) rs397508307
NM_000492.3(CFTR):c.1807G>T (p.Val603Phe) rs143036685
NM_000492.3(CFTR):c.1810A>C (p.Thr604Pro) rs1554389267
NM_000492.3(CFTR):c.1811C>G (p.Thr604Ser) rs397508308
NM_000492.3(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.3(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.3(CFTR):c.1823A>G (p.Glu608Gly) rs397508309
NM_000492.3(CFTR):c.1826A>G (p.His609Arg) rs397508310
NM_000492.3(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.3(CFTR):c.1829T>C (p.Leu610Ser) rs397508311
NM_000492.3(CFTR):c.1837G>A (p.Ala613Thr) rs201978662
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1856T>C (p.Leu619Ser) rs397508313
NM_000492.3(CFTR):c.1859A>C (p.His620Pro) rs397508314
NM_000492.3(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
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.1898T>C (p.Leu633Pro) rs397508318
NM_000492.3(CFTR):c.1907T>C (p.Leu636Pro) rs374702882
NM_000492.3(CFTR):c.1909C>T (p.Gln637Ter) rs397508320
NM_000492.3(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.3(CFTR):c.1912C>T (p.Pro638Ser) rs1368033715
NM_000492.3(CFTR):c.1919_1920del (p.Asp639_Phe640insTer) rs397508322
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.1923_1931delinsA (p.Ser641fs) rs121908779
NM_000492.3(CFTR):c.1936G>T (p.Gly646Ter) rs1562907873
NM_000492.3(CFTR):c.1943A>T (p.Asp648Val) rs121909033
NM_000492.3(CFTR):c.1943del (p.Asp648fs) rs1481564133
NM_000492.3(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.3(CFTR):c.1966G>T (p.Glu656Ter) rs397508323
NM_000492.3(CFTR):c.196A>G (p.Asn66Asp) rs1060503163
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.3(CFTR):c.1976del (p.Asn659fs) rs121908809
NM_000492.3(CFTR):c.1981del (p.Ile661fs) rs397508324
NM_000492.3(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.3(CFTR):c.19G>T (p.Glu7Ter) rs121909045
NM_000492.3(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.3(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) rs397508332
NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.3(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.3(CFTR):c.2045dup (p.Gln685fs) rs397508334
NM_000492.3(CFTR):c.204A>T (p.Lys68Asn) rs397508335
NM_000492.3(CFTR):c.2051_2052del (p.Lys684fs) rs121908746
NM_000492.3(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.3(CFTR):c.2051_2052dup (p.Gln685fs) rs121908746
NM_000492.3(CFTR):c.2052delA rs121908746
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) rs121908746
NM_000492.3(CFTR):c.2053C>T (p.Gln685Ter) rs397508336
NM_000492.3(CFTR):c.2053dup (p.Gln685fs) rs797045162
NM_000492.3(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561
NM_000492.3(CFTR):c.2074G>T (p.Glu692Ter) rs397508337
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.2083dup (p.Glu695fs) rs397508339
NM_000492.3(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.3(CFTR):c.2089del (p.Arg697fs) rs397508341
NM_000492.3(CFTR):c.2125C>T (p.Arg709Ter) rs121908760
NM_000492.3(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
NM_000492.3(CFTR):c.2143C>T (p.Gln715Ter) rs397508343
NM_000492.3(CFTR):c.2146A>T (p.Lys716Ter) rs121909023
NM_000492.3(CFTR):c.2156T>A (p.Leu719Ter) rs397508345
NM_000492.3(CFTR):c.2158C>T (p.Gln720Ter) rs397508346
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.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2188G>T (p.Glu730Ter) rs397508349
NM_000492.3(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.3(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.3(CFTR):c.2204G>A (p.Arg735Lys) rs397508352
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.223C>T (p.Arg75Ter) rs121908749
NM_000492.3(CFTR):c.2241_2248del (p.Ile748fs) rs397508355
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.224G>T (p.Arg75Leu) rs1800076
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.2259C>G (p.Ser753Arg) rs201888075
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2279C>T (p.Thr760Met) rs397508359
NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter) rs121908810
NM_000492.3(CFTR):c.2291del (p.Arg764fs) rs387906376
NM_000492.3(CFTR):c.2297G>T (p.Arg766Met) rs397508363
NM_000492.3(CFTR):c.2327C>G (p.Ser776Ter) rs397508365
NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs) rs397508360
NM_000492.3(CFTR):c.2346C>A (p.Asn782Lys) rs397508369
NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) rs374946172
NM_000492.3(CFTR):c.2354G>A (p.Arg785Gln)
NM_000492.3(CFTR):c.236G>A (p.Trp79Ter) rs397508371
NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly) rs145449046
NM_000492.3(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.3(CFTR):c.2375G>A (p.Arg792Gln) rs369040061
NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser) rs138069616
NM_000492.3(CFTR):c.2393dup (p.Gln799fs) rs397508372
NM_000492.3(CFTR):c.2395C>T (p.Gln799Ter) rs984281283
NM_000492.3(CFTR):c.2399C>G (p.Ala800Gly) rs397508373
NM_000492.3(CFTR):c.2411A>T (p.Glu804Val) rs397508374
NM_000492.3(CFTR):c.2417A>G (p.Asp806Gly) rs397508375
NM_000492.3(CFTR):c.2417_2418AT[5] (p.Ser809fs) rs387906359
NM_000492.3(CFTR):c.2420T>C (p.Ile807Thr) rs1554389471
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2427_2429AAG[1] (p.Arg811del) rs1554389478
NM_000492.3(CFTR):c.2428A>G (p.Arg810Gly) rs377447726
NM_000492.3(CFTR):c.2429del (p.Arg810fs) rs1057516236
NM_000492.3(CFTR):c.243del (p.Phe81fs) rs1562884046
NM_000492.3(CFTR):c.2440C>T (p.Gln814Ter) rs397508377
NM_000492.3(CFTR):c.2443G>T (p.Glu815Ter) rs672601316
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.2453del (p.Leu818fs) rs397515498
NM_000492.3(CFTR):c.2463_2464del (p.Ser821fs) rs797045156
NM_000492.3(CFTR):c.2464G>A (p.Glu822Lys) rs397508378
NM_000492.3(CFTR):c.2464G>T (p.Glu822Ter) rs397508378
NM_000492.3(CFTR):c.246G>A (p.Met82Ile) rs1159096947
NM_000492.3(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.3(CFTR):c.2475C>T (p.Asn825=) rs746961486
NM_000492.3(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.3(CFTR):c.2476G>A (p.Glu826Lys) rs397508381
NM_000492.3(CFTR):c.2476G>T (p.Glu826Ter) rs397508381
NM_000492.3(CFTR):c.2479G>T (p.Glu827Ter) rs121909018
NM_000492.3(CFTR):c.2483dup (p.Asp828fs) rs1057517276
NM_000492.3(CFTR):c.2488A>T (p.Lys830Ter) rs397508382
NM_000492.3(CFTR):c.2490+1G>A rs141158996
NM_000492.3(CFTR):c.2490+2T>C rs1057516216
NM_000492.3(CFTR):c.2490+4_2490+6dup rs1554389497
NM_000492.3(CFTR):c.2491-2A>C rs397508386
NM_000492.3(CFTR):c.2491G>T (p.Glu831Ter) rs397508387
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.2522C>G (p.Pro841Arg) rs397508392
NM_000492.3(CFTR):c.2537G>A (p.Trp846Ter) rs397508393
NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.3(CFTR):c.2540A>G (p.Asn847Ser)
NM_000492.3(CFTR):c.2545T>A (p.Tyr849Asn)
NM_000492.3(CFTR):c.2547C>A (p.Tyr849Ter) rs397508394
NM_000492.3(CFTR):c.254G>A (p.Gly85Glu) rs75961395
NM_000492.3(CFTR):c.254G>T (p.Gly85Val) rs75961395
NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.3(CFTR):c.2552G>A (p.Arg851Gln) rs397508395
NM_000492.3(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.3(CFTR):c.2554dup (p.Tyr852fs) rs1057517068
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.2562T>G (p.Thr854=) rs1042077
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.2583del (p.Phe861fs) rs397508399
NM_000492.3(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.3(CFTR):c.2592_2593del (p.Ile864fs) rs397508401
NM_000492.3(CFTR):c.2596T>C (p.Cys866Arg) rs397508402
NM_000492.3(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506
NM_000492.3(CFTR):c.259T>A (p.Phe87Ile) rs397508403
NM_000492.3(CFTR):c.259T>C (p.Phe87Leu) rs397508403
NM_000492.3(CFTR):c.2601dup (p.Val868fs) rs397508405
NM_000492.3(CFTR):c.2604A>G (p.Val868=) rs1800105
NM_000492.3(CFTR):c.2619+2T>A rs397508407
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.2620-1G>T rs397508410
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.3(CFTR):c.2620-2A>G rs1554390859
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.262_263del (p.Leu88fs) rs121908769
NM_000492.3(CFTR):c.263T>A (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.263T>C (p.Leu88Ser) rs397508412
NM_000492.3(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.2642_2643TG[3] (p.Trp882fs) rs1554390864
NM_000492.3(CFTR):c.2645G>A (p.Trp882Ter) rs397508413
NM_000492.3(CFTR):c.2657+17C>T rs368543375
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2657+5G>A rs80224560
NM_000492.3(CFTR):c.2658-1G>C rs397508416
NM_000492.3(CFTR):c.2658-2A>G rs1554390958
NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter) rs79633941
NM_000492.3(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.3(CFTR):c.266A>G (p.Tyr89Cys) rs397508418
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.269T>C (p.Leu90Ser) rs397508421
NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys) rs672601315
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.271G>A (p.Gly91Arg) rs121908750
NM_000492.3(CFTR):c.2723C>A (p.Thr908Asn) rs369521395
NM_000492.3(CFTR):c.273+10255delC rs193922507
NM_000492.3(CFTR):c.273+1G>A rs121908791
NM_000492.3(CFTR):c.273+3A>C rs74467662
NM_000492.3(CFTR):c.273+4A>G rs387906374
NM_000492.3(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008
NM_000492.3(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.3(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.3(CFTR):c.274-1G>A rs121908792
NM_000492.3(CFTR):c.274-1G>C rs121908792
NM_000492.3(CFTR):c.274-2A>C rs397508426
NM_000492.3(CFTR):c.274-2A>G rs397508426
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.274G>A (p.Glu92Lys) rs121908751
NM_000492.3(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.3(CFTR):c.2750A>G (p.Tyr917Cys) rs397508428
NM_000492.3(CFTR):c.2754T>G (p.Ile918Met) rs397508429
NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430
NM_000492.3(CFTR):c.2757C>G (p.Tyr919Ter)
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.2763_2764dup (p.Val922fs) rs397508431
NM_000492.3(CFTR):c.2768C>A (p.Ala923Asp) rs193922509
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) rs201759207
NM_000492.3(CFTR):c.2770G>C (p.Asp924His)
NM_000492.3(CFTR):c.2776_2777del (p.Leu926fs) rs397508433
NM_000492.3(CFTR):c.2777del (p.Leu926fs) rs397508433
NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.2799A>T (p.Arg933Ser) rs397508437
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2812G>C (p.Val938Leu) rs749784731
NM_000492.3(CFTR):c.2812dup (p.Val938fs) rs1562911661
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.2822del (p.Leu941fs) rs762844777
NM_000492.3(CFTR):c.2825del (p.Ile942fs) rs397508441
NM_000492.3(CFTR):c.2832G>A (p.Val944=) rs193922512
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2835G>A (p.Ser945=) rs193922513
NM_000492.3(CFTR):c.2836A>G (p.Lys946Glu)
NM_000492.3(CFTR):c.2845C>T (p.His949Tyr) rs121909035
NM_000492.3(CFTR):c.2846A>G (p.His949Arg) rs397508444
NM_000492.3(CFTR):c.2846A>T (p.His949Leu) rs397508444
NM_000492.3(CFTR):c.2854del (p.Met952fs) rs1057517032
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.3(CFTR):c.2861A>C (p.His954Pro) rs397508446
NM_000492.3(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.3(CFTR):c.2876C>T (p.Ala959Val) rs397508448
NM_000492.3(CFTR):c.2879_2882del (p.Pro960fs) rs1562911739
NM_000492.3(CFTR):c.287C>A (p.Ala96Glu) rs397508449
NM_000492.3(CFTR):c.2896del (p.Thr966fs) rs397508451
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
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+1G>A rs1060503164
NM_000492.3(CFTR):c.2908+3A>C rs1554391091
NM_000492.3(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.3(CFTR):c.2908G>C (p.Gly970Arg) 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.2909G>A (p.Gly970Asp) rs386134230
NM_000492.3(CFTR):c.2909_2924dup rs1263488842
NM_000492.3(CFTR):c.2909delG rs397508458
NM_000492.3(CFTR):c.290T>C (p.Val97Ala) rs1235363099
NM_000492.3(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.3(CFTR):c.2916_2952del (p.Ile972fs) rs1554391454
NM_000492.3(CFTR):c.2918T>C (p.Leu973Pro) rs397508460
NM_000492.3(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) rs397508461
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.293A>C (p.Gln98Pro) rs397508464
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.2946T>G (p.Ile982Met)
NM_000492.3(CFTR):c.296C>T (p.Pro99Leu) rs397508467
NM_000492.3(CFTR):c.2973A>G (p.Ile991Met) rs370181570
NM_000492.3(CFTR):c.2974T>C (p.Phe992Leu)
NM_000492.3(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys) rs397508469
NM_000492.3(CFTR):c.2986dup (p.Gln996fs) rs1554391491
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.2988+1G>C rs75096551
NM_000492.3(CFTR):c.2988G>A (p.Gln996=) rs121908797
NM_000492.3(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.3(CFTR):c.2T>A (p.Met1Lys) rs397508476
NM_000492.3(CFTR):c.2T>C (p.Met1Thr) rs397508476
NM_000492.3(CFTR):c.2T>G (p.Met1Arg) rs397508476
NM_000492.3(CFTR):c.302T>G (p.Leu101Ter) rs397508484
NM_000492.3(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.3(CFTR):c.305T>C (p.Leu102Pro) rs397508490
NM_000492.3(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.3(CFTR):c.310del (p.Arg104fs) rs397508499
NM_000492.3(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.3(CFTR):c.319G>C (p.Ala107Pro) rs1562889219
NM_000492.3(CFTR):c.319_326del (p.Ile106_Ala107insTer) rs397508516
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.325T>C (p.Tyr109His) rs397508522
NM_000492.3(CFTR):c.325_327delinsG (p.Tyr109fs) rs121908798
NM_000492.3(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.3(CFTR):c.328G>A (p.Asp110Asn) rs113993958
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.328del (p.Asp110fs) rs397508530
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>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3368-10G>A rs1060504847
NM_000492.3(CFTR):c.3368-19G>A rs374104839
NM_000492.3(CFTR):c.3368-2A>G rs755416052
NM_000492.3(CFTR):c.3368-2A>T rs755416052
NM_000492.3(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.3(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483
NM_000492.3(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.3(CFTR):c.3409A>G (p.Met1137Val) rs397508553
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.3419T>A (p.Met1140Lys) rs397508558
NM_000492.3(CFTR):c.3419_3421del (p.Met1140del) rs397508557
NM_000492.3(CFTR):c.3421_3424dup (p.Thr1142fs) rs397508559
NM_000492.3(CFTR):c.342_344GGA[1] (p.Glu116del) rs397508563
NM_000492.3(CFTR):c.3435G>A (p.Trp1145Ter) rs397508561
NM_000492.3(CFTR):c.3439G>A (p.Val1147Ile) rs397508562
NM_000492.3(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565
NM_000492.3(CFTR):c.3452T>A (p.Ile1151Lys)
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
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.3461A>G (p.Asp1154Gly) rs397508569
NM_000492.3(CFTR):c.3468+1G>A rs1554392798
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3468+5G>A rs1554392801
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.3469-2A>G rs397508570
NM_000492.3(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223
NM_000492.3(CFTR):c.3473G>A (p.Arg1158Gln)
NM_000492.3(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.3(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.3(CFTR):c.3481A>C (p.Ser1161Arg) rs397508574
NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530
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.3486_3487del (p.Val1163fs) rs397508575
NM_000492.3(CFTR):c.3492dup (p.Lys1165Ter) rs387906379
NM_000492.3(CFTR):c.3495del (p.Lys1165fs) rs1057516970
NM_000492.3(CFTR):c.3497T>G (p.Phe1166Cys) rs397508577
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.3(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.3(CFTR):c.3529A>T (p.Lys1177Ter) rs397508578
NM_000492.3(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.3(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
NM_000492.3(CFTR):c.3533C>A (p.Ser1178Ter) rs1057516609
NM_000492.3(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
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.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.3(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763
NM_000492.3(CFTR):c.358G>A (p.Ala120Thr) rs201958172
NM_000492.3(CFTR):c.3592G>A (p.Val1198Met)
NM_000492.3(CFTR):c.3592del (p.His1197_Val1198insTer) rs397508585
NM_000492.3(CFTR):c.359C>T (p.Ala120Val) rs1265244783
NM_000492.3(CFTR):c.3600A>G (p.Lys1200=) rs397508586
NM_000492.3(CFTR):c.3605del (p.Asp1202fs) rs397508587
NM_000492.3(CFTR):c.3607A>G (p.Ile1203Val) rs75647395
NM_000492.3(CFTR):c.3611G>A (p.Trp1204Ter) rs121908764
NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765
NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.3(CFTR):c.3618_3619del (p.Gly1208fs) rs397508589
NM_000492.3(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666
NM_000492.3(CFTR):c.3628A>C (p.Met1210Leu)
NM_000492.3(CFTR):c.3642T>A (p.Asp1214Glu)
NM_000492.3(CFTR):c.364T>C (p.Tyr122His) rs397508592
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.3659delC rs121908811
NM_000492.3(CFTR):c.365A>G (p.Tyr122Cys) rs377295859
NM_000492.3(CFTR):c.366T>A (p.Tyr122Ter) rs79660178
NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.3(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.3(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
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.370G>C (p.Gly124Arg) rs193922519
NM_000492.3(CFTR):c.3710G>A (p.Gly1237Asp)
NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
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.3717+45G>A rs145743767
NM_000492.3(CFTR):c.3717+4A>G rs387906362
NM_000492.3(CFTR):c.3717+5G>A rs193922520
NM_000492.3(CFTR):c.3717G>A (p.Arg1239=) rs144781064
NM_000492.3(CFTR):c.3718-1G>A rs387906369
NM_000492.3(CFTR):c.3718-3T>G rs397508596
NM_000492.3(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.3(CFTR):c.3728T>A (p.Leu1243Ter) rs1562923164
NM_000492.3(CFTR):c.372C>T (p.Gly124=) rs1060503162
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.3731G>T (p.Gly1244Val) rs267606723
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.3(CFTR):c.3744del (p.Lys1250fs) rs121908784
NM_000492.3(CFTR):c.3745G>A (p.Gly1249Arg) rs397508602
NM_000492.3(CFTR):c.3745G>C (p.Gly1249Arg) rs397508602
NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040
NM_000492.3(CFTR):c.3747del (p.Lys1250fs) rs797045159
NM_000492.3(CFTR):c.3749_3751dup (p.Lys1250dup)
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3754A>C (p.Thr1252Pro) rs397508603
NM_000492.3(CFTR):c.3759G>A (p.Leu1253=) rs117400534
NM_000492.3(CFTR):c.3761T>G (p.Leu1254Ter) rs397508604
NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.3(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.3(CFTR):c.3767dupC (p.Leu1258Phefs) rs387906370
NM_000492.3(CFTR):c.376G>A (p.Gly126Ser) rs397508606
NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607
NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs) rs121908789
NM_000492.3(CFTR):c.3777_3779ACT[1] (p.Leu1261del) rs397508610
NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) rs397508609
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.3806T>A (p.Ile1269Asn) rs1562923253
NM_000492.3(CFTR):c.3807C>G (p.Ile1269Met)
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.380T>G (p.Leu127Ter) rs397508611
NM_000492.3(CFTR):c.380_382dup (p.Leu127dup) rs193922521
NM_000492.3(CFTR):c.3812_3813GT[2] (p.Ser1273fs) rs397508612
NM_000492.3(CFTR):c.3822G>A (p.Trp1274Ter) rs397508613
NM_000492.3(CFTR):c.3829del (p.Ser1276_Ile1277insTer) rs397508614
NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.3(CFTR):c.3842A>G (p.Gln1281Arg) rs752127256
NM_000492.3(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616
NM_000492.3(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3848G>T (p.Arg1283Met) rs77902683
NM_000492.3(CFTR):c.3851_3852dup (p.Ala1285fs) rs1057517404
NM_000492.3(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.3(CFTR):c.3855del (p.Phe1286fs) rs397508618
NM_000492.3(CFTR):c.3857T>C (p.Phe1286Ser) rs121909028
NM_000492.3(CFTR):c.3868C>T (p.Pro1290Ser) rs397508619
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.3871C>T (p.Gln1291Ter) rs397508620
NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.3(CFTR):c.3873+1G>A rs143570767
NM_000492.3(CFTR):c.3873+1G>T rs143570767
NM_000492.3(CFTR):c.3873+2T>C rs146795445
NM_000492.3(CFTR):c.3873+33A>G rs397508622
NM_000492.3(CFTR):c.3873G>C (p.Gln1291His) rs121909015
NM_000492.3(CFTR):c.3874-14C>G rs184271150
NM_000492.3(CFTR):c.3874-1G>A rs397508624
NM_000492.3(CFTR):c.3874-26dup rs1554396371
NM_000492.3(CFTR):c.3874-2A>G rs1554396384
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.3879_3882ATTT[1] (p.Ile1295fs) rs387906373
NM_000492.3(CFTR):c.387del (p.Leu130fs) rs397508627
NM_000492.3(CFTR):c.3883del (p.Ile1295fs) rs397508630
NM_000492.3(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.3(CFTR):c.3891dup (p.Gly1298fs) rs397508633
NM_000492.3(CFTR):c.3893G>C (p.Gly1298Ala) rs193922522
NM_000492.3(CFTR):c.3895A>G (p.Thr1299Ala)
NM_000492.3(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.3900dup (p.Arg1301Ter) rs1554396393
NM_000492.3(CFTR):c.3907A>C (p.Asn1303His) rs121909042
NM_000492.3(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636
NM_000492.3(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.3(CFTR):c.3908dup (p.Asn1303fs) rs397508637
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.3915T>A (p.Asp1305Glu) rs397508640
NM_000492.3(CFTR):c.3918C>T (p.Pro1306=) rs1800132
NM_000492.3(CFTR):c.3920A>G (p.Tyr1307Cys) rs397508641
NM_000492.3(CFTR):c.3921T>A (p.Tyr1307Ter) rs397508642
NM_000492.3(CFTR):c.3922G>T (p.Glu1308Ter) rs397508643
NM_000492.3(CFTR):c.3925C>T (p.Gln1309Ter) rs193922732
NM_000492.3(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
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.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.393del (p.Phe131fs) rs397508647
NM_000492.3(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter) rs121909010
NM_000492.3(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.3(CFTR):c.3957_3958insAGGG (p.Asp1320fs) rs193922523
NM_000492.3(CFTR):c.3963+1G>A rs672601314
NM_000492.3(CFTR):c.3963+1G>C rs672601314
NM_000492.3(CFTR):c.3963+2T>A rs397508650
NM_000492.3(CFTR):c.3963+2T>G rs397508650
NM_000492.3(CFTR):c.3964-28G>A rs397508651
NM_000492.3(CFTR):c.3964-3C>G rs397508652
NM_000492.3(CFTR):c.3969G>A (p.Gly1323=) rs886061952
NM_000492.3(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.3(CFTR):c.3976del (p.Ser1326fs) rs397508654
NM_000492.3(CFTR):c.3982_3984delinsTT (p.Ile1328fs) rs397508655
NM_000492.3(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793
NM_000492.3(CFTR):c.3985G>C (p.Glu1329Gln) rs397508656
NM_000492.3(CFTR):c.3988C>T (p.Gln1330Ter) rs375661578
NM_000492.3(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.3(CFTR):c.3997G>T (p.Gly1333Trp) rs193922524
NM_000492.3(CFTR):c.3999del (p.Lys1334fs) rs886042527
NM_000492.3(CFTR):c.3G>A (p.Met1Ile) rs397508657
NM_000492.3(CFTR):c.3G>T (p.Met1Ile) rs397508657
NM_000492.3(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.3(CFTR):c.4009T>G (p.Phe1337Val) rs397508659
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.4025_4028dup (p.Cys1344fs) rs397508661
NM_000492.3(CFTR):c.4027G>A (p.Gly1343Ser) rs747324955
NM_000492.3(CFTR):c.4028del (p.Gly1343fs) rs397508661
NM_000492.3(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311
NM_000492.3(CFTR):c.4035_4038dup (p.Ser1347fs) rs1554397497
NM_000492.3(CFTR):c.4036_4042del (p.Leu1346fs) rs397508662
NM_000492.3(CFTR):c.403_404AC[3] (p.Leu136fs) rs1554379846
NM_000492.3(CFTR):c.4040_4041del (p.Ser1347fs) rs397508664
NM_000492.3(CFTR):c.4042del (p.His1348fs) rs397508665
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
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.4058del (p.Gln1352_Leu1353insTer) rs1562928927
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.406C>T (p.Leu136=) rs1351515691
NM_000492.3(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.3(CFTR):c.4086dup (p.Lys1363Ter) rs397508669
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.4092G>A (p.Ala1364=) rs148878126
NM_000492.3(CFTR):c.4095G>A (p.Lys1365=) rs759891255
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.409_412del (p.Leu137fs) rs397508671
NM_000492.3(CFTR):c.409del (p.Leu137fs) rs397508672
NM_000492.3(CFTR):c.410T>A (p.Leu137His) rs397508674
NM_000492.3(CFTR):c.410T>C (p.Leu137Pro)
NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.3(CFTR):c.4123C>A (p.His1375Asn) rs146947665
NM_000492.3(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.3(CFTR):c.4127_4131del (p.Leu1376fs) rs1554397527
NM_000492.3(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.3(CFTR):c.4136+1G>A rs1562928997
NM_000492.3(CFTR):c.4136+2T>G rs1562928998
NM_000492.3(CFTR):c.4139del (p.Thr1380fs) rs397508680
NM_000492.3(CFTR):c.413_415dup (p.Leu138dup) rs397508686
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.4143C>A (p.Tyr1381Ter) rs397508683
NM_000492.3(CFTR):c.4143C>G (p.Tyr1381Ter) rs397508683
NM_000492.3(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.3(CFTR):c.4147dupA (p.Ile1383Asnfs) rs397508685
NM_000492.3(CFTR):c.4163T>A (p.Leu1388Gln) rs397508688
NM_000492.3(CFTR):c.416A>C (p.His139Pro) rs76371115
NM_000492.3(CFTR):c.416A>G (p.His139Arg) rs76371115
NM_000492.3(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.3(CFTR):c.4186A>C (p.Thr1396Pro)
NM_000492.3(CFTR):c.4190T>A (p.Val1397Glu) rs397508691
NM_000492.3(CFTR):c.4195_4196CT[1] (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.3(CFTR):c.4199del (p.Cys1400fs) rs1554397593
NM_000492.3(CFTR):c.41A>T (p.Lys14Ile) rs772774651
NM_000492.3(CFTR):c.4201G>A (p.Glu1401Lys) rs397508696
NM_000492.3(CFTR):c.4201G>T (p.Glu1401Ter) rs397508696
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.422C>A (p.Ala141Asp) rs397508700
NM_000492.3(CFTR):c.4230C>G (p.Cys1410Trp) rs1165501753
NM_000492.3(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_000492.3(CFTR):c.4232A>C (p.Gln1411Pro) rs150177304
NM_000492.3(CFTR):c.4234C>T (p.Gln1412Ter) rs397508702
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+13A>G rs76179227
NM_000492.3(CFTR):c.4242+1G>A rs372227120
NM_000492.3(CFTR):c.4242+1G>T rs372227120
NM_000492.3(CFTR):c.4242+2T>C rs193922526
NM_000492.3(CFTR):c.4242+5G>A rs1562929196
NM_000492.3(CFTR):c.4242+6T>C rs1562929200
NM_000492.3(CFTR):c.424A>G (p.Ile142Val) rs1562889369
NM_000492.3(CFTR):c.424del (p.Ile142fs) rs387906363
NM_000492.3(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.3(CFTR):c.42del (p.Lys14fs) rs397508710
NM_000492.3(CFTR):c.433del (p.Leu145fs) rs1562889382
NM_000492.3(CFTR):c.43del (p.Leu15fs) rs397508715
NM_000492.3(CFTR):c.442del (p.Ile148fs) rs121908770
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.445G>A (p.Gly149Arg) rs397508718
NM_000492.3(CFTR):c.445G>T (p.Gly149Ter) rs397508718
NM_000492.3(CFTR):c.449T>G (p.Met150Arg) rs1562889397
NM_000492.3(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.3(CFTR):c.451C>A (p.Gln151Lys) rs397508720
NM_000492.3(CFTR):c.451C>T (p.Gln151Ter) rs397508720
NM_000492.3(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.3(CFTR):c.455T>G (p.Met152Arg) rs397508722
NM_000492.3(CFTR):c.456G>A (p.Met152Ile)
NM_000492.3(CFTR):c.459_476del (p.Ala155_Ile160del) rs387906371
NM_000492.3(CFTR):c.463G>C (p.Ala155Pro) rs397508723
NM_000492.3(CFTR):c.470_483del (p.Met156_Phe157insTer) rs1554379887
NM_000492.3(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.3(CFTR):c.473G>C (p.Ser158Thr) rs397508725
NM_000492.3(CFTR):c.481T>A (p.Tyr161Asn) rs397508729
NM_000492.3(CFTR):c.481T>G (p.Tyr161Asp) rs397508729
NM_000492.3(CFTR):c.482A>G (p.Tyr161Cys) rs397508730
NM_000492.3(CFTR):c.483_484insCC (p.Lys162fs)
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.488del (p.Lys163fs) rs1554379899
NM_000492.3(CFTR):c.489+10C>G rs1447914513
NM_000492.3(CFTR):c.489+1G>T rs78756941
NM_000492.3(CFTR):c.489+25A>G rs531830892
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.489+2T>G rs397508732
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.489+87_489+88dup rs1554379931
NM_000492.3(CFTR):c.489+8T>C rs727504712
NM_000492.3(CFTR):c.489+8T>G rs727504712
NM_000492.3(CFTR):c.489+91A>G rs56094102
NM_000492.3(CFTR):c.489G>A (p.Lys163=) rs397508733
NM_000492.3(CFTR):c.490-1G>A rs397508734
NM_000492.3(CFTR):c.490-1G>T rs397508734
NM_000492.3(CFTR):c.490-26delT rs781120531
NM_000492.3(CFTR):c.490-2A>G rs397508735
NM_000492.3(CFTR):c.490A>G (p.Thr164Ala) rs200885306
NM_000492.3(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.3(CFTR):c.494del (p.Thr164_Leu165insTer) rs397508737
NM_000492.3(CFTR):c.496A>G (p.Lys166Glu) rs397508738
NM_000492.3(CFTR):c.49_50dup (p.Trp19fs) rs397508714
NM_000492.3(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.3(CFTR):c.4_53+69del119ins299
NM_000492.3(CFTR):c.4del (p.Gln2fs) rs1562876396
NM_000492.3(CFTR):c.500T>G (p.Leu167Arg) rs397508741
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.506dup (p.Ser169fs) rs1554380311
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.50del (p.Phe17fs) rs397508714
NM_000492.3(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.3(CFTR):c.51del (p.Phe17fs) rs1317756653
NM_000492.3(CFTR):c.522_526del (p.Ile175fs) rs397508743
NM_000492.3(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.3(CFTR):c.53+1G>T rs397508746
NM_000492.3(CFTR):c.53+4A>T rs372610364
NM_000492.3(CFTR):c.530T>C (p.Ile177Thr) rs397508747
NM_000492.3(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.3(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
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.54-1161_164+1603del2875
NM_000492.3(CFTR):c.54-13C>G rs397508749
NM_000492.3(CFTR):c.543_546del (p.Leu183fs) rs397508750
NM_000492.3(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.3(CFTR):c.54_164del111 rs1562882675
NM_000492.3(CFTR):c.550del (p.Leu184fs) rs397508752
NM_000492.3(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.3(CFTR):c.560del (p.Asn187fs) rs1562890223
NM_000492.3(CFTR):c.561C>A (p.Asn187Lys) rs397508754
NM_000492.3(CFTR):c.563T>C (p.Leu188Pro) rs766640075
NM_000492.3(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.3(CFTR):c.56G>A (p.Trp19Ter) rs1057516232
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.574G>A (p.Asp192Asn) rs397508756
NM_000492.3(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.579+1G>T rs77188391
NM_000492.3(CFTR):c.579+34A>G rs148209839
NM_000492.3(CFTR):c.579+3A>G rs397508761
NM_000492.3(CFTR):c.579+3A>T rs397508761
NM_000492.3(CFTR):c.579+5G>A rs78440224
NM_000492.3(CFTR):c.57G>A (p.Trp19Ter) rs397508762
NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.3(CFTR):c.580-1G>T rs121908793
NM_000492.3(CFTR):c.580-2A>C rs193922730
NM_000492.3(CFTR):c.589T>C (p.Leu197=) rs755619078
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.596A>G (p.His199Arg) rs397508764
NM_000492.3(CFTR):c.597T>G (p.His199Gln) rs397508765
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.606G>A (p.Trp202Ter) rs397508768
NM_000492.3(CFTR):c.609C>G (p.Ile203Met) rs1800081
NM_000492.3(CFTR):c.610G>A (p.Ala204Thr) rs748026786
NM_000492.3(CFTR):c.613C>A (p.Pro205Thr)
NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.618G>T (p.Leu206Phe) rs397508770
NM_000492.3(CFTR):c.625G>T (p.Ala209Ser) rs397508772
NM_000492.3(CFTR):c.627A>G (p.Ala209=) rs397508773
NM_000492.3(CFTR):c.634A>G (p.Met212Val)
NM_000492.3(CFTR):c.638G>A (p.Gly213Glu) rs775701644
NM_000492.3(CFTR):c.642_643insT (p.Ile215fs) rs397508774
NM_000492.3(CFTR):c.647G>A (p.Trp216Ter) rs397508775
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.653T>A (p.Leu218Ter) rs397508777
NM_000492.3(CFTR):c.657dup (p.Gln220fs) rs1554380465
NM_000492.3(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.66A>G (p.Pro22=) rs748899228
NM_000492.3(CFTR):c.673T>C (p.Cys225Arg) rs397508780
NM_000492.3(CFTR):c.675T>A (p.Cys225Ter) rs397508781
NM_000492.3(CFTR):c.676G>C (p.Gly226Arg) rs1562890588
NM_000492.3(CFTR):c.680T>G (p.Leu227Arg) rs397508782
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.701C>A (p.Ala234Asp) rs769016520
NM_000492.3(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.3(CFTR):c.714del (p.Gly239_Leu240insTer) rs397508787
NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) rs397508788
NM_000492.3(CFTR):c.717del (p.Gly239_Leu240insTer) rs1554380497
NM_000492.3(CFTR):c.721G>A (p.Gly241Arg) rs397508789
NM_000492.3(CFTR):c.723_743+1del rs121908804
NM_000492.3(CFTR):c.731T>A (p.Met244Lys) rs397508790
NM_000492.3(CFTR):c.738G>A (p.Lys246=) rs35033453
NM_000492.3(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.3(CFTR):c.741C>G (p.Tyr247Ter) rs1800082
NM_000492.3(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.3(CFTR):c.743+1G>A rs397508791
NM_000492.3(CFTR):c.743+1G>C rs397508791
NM_000492.3(CFTR):c.743+2T>C
NM_000492.3(CFTR):c.743+4G>T rs193922530
NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.3(CFTR):c.744-14_744-3del rs387906367
NM_000492.3(CFTR):c.744-2A>G rs1057516646
NM_000492.3(CFTR):c.744-33GATT[5] rs1805171
NM_000492.3(CFTR):c.744-6T>G rs878854022
NM_000492.3(CFTR):c.744-9_744-6dupGATT rs1805171
NM_000492.3(CFTR):c.744-?_1584+?dup
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.773del (p.Arg258fs) rs397508794
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.3(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.3(CFTR):c.803_804AT[1] (p.Ile269fs) rs121908773
NM_000492.3(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.3(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.3(CFTR):c.80del (p.Gly27fs) rs397508798
NM_000492.3(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.3(CFTR):c.813T>G (p.Ser271=) rs1060504846
NM_000492.3(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn) rs1554380796
NM_000492.3(CFTR):c.825C>G (p.Tyr275Ter) rs193922532
NM_000492.3(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.3(CFTR):c.829T>A (p.Trp277Arg) rs397508800
NM_000492.3(CFTR):c.830G>A (p.Trp277Ter) rs672601317
NM_000492.3(CFTR):c.833_835AAG[1] (p.Glu279del) rs397508801
NM_000492.3(CFTR):c.835G>T (p.Glu279Ter) rs1199914684
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.850dup (p.Met284fs) rs786204693
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) rs397508804
NM_000492.3(CFTR):c.860dup (p.Asn287fs) rs387906380
NM_000492.3(CFTR):c.861C>G (p.Asn287Lys) rs112162204
NM_000492.3(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.3(CFTR):c.865A>T (p.Arg289Ter) rs1057516619
NM_000492.3(CFTR):c.866_870del (p.Arg289fs) rs1562891084
NM_000492.3(CFTR):c.869+11C>T rs1800503
NM_000492.3(CFTR):c.869+1G>T rs1330431481
NM_000492.3(CFTR):c.869+25A>G rs1554380840
NM_000492.3(CFTR):c.869+3A>T rs1554380828
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.870-1113_870-1110delGAAT rs397508809
NM_000492.3(CFTR):c.870-1G>C rs1351058559
NM_000492.3(CFTR):c.870-2A>G rs1290078234
NM_000492.3(CFTR):c.870-3T>G rs397508810
NM_000492.3(CFTR):c.870-5dup rs759762840
NM_000492.3(CFTR):c.874G>A (p.Glu292Lys) rs397508811
NM_000492.3(CFTR):c.877C>A (p.Leu293Met) rs397508812
NM_000492.3(CFTR):c.881_882del (p.Lys294fs) rs397508813
NM_000492.3(CFTR):c.888_889dup (p.Arg297fs) rs1057516387
NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) rs397508814
NM_000492.3(CFTR):c.88C>T (p.Gln30Ter) rs397508815
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.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.920G>A (p.Ser307Asn) rs397508817
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.927C>G (p.Ala309=) rs1800084
NM_000492.3(CFTR):c.927C>T (p.Ala309=) rs1800084
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.933C>G (p.Phe311Leu) rs121909016
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
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.948del (p.Phe316fs) rs75528968
NM_000492.3(CFTR):c.94C>A (p.Leu32Met) rs776797377
NM_000492.3(CFTR):c.950T>A (p.Val317Glu) rs1204521684
NM_000492.3(CFTR):c.954G>A (p.Val318=) rs766189605
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.3(CFTR):c.960A>T (p.Leu320Phe) rs56093012
NM_000492.3(CFTR):c.971C>T (p.Pro324Leu) rs397508822
NM_000492.3(CFTR):c.980del (p.Leu327fs) rs397508823
NM_000492.3(CFTR):c.987del (p.Gly330fs) rs397508824
NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) rs79031340
NM_000492.3(CFTR):c.992T>A (p.Ile331Asn) rs397508825
NM_000492.3(CFTR):c.997C>T (p.Leu333Phe) rs193922533
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
NM_000492.3(CFTR):c.[2735C>T;3731G>T]
NM_000492.3(CFTR):c.[350G>A;1210-12[5]]
NP_000483.3(CFTR):p.Tyr1092Ter
NP_000483.3:p.Ser549Arg
Single allele

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