ClinVar Miner

List of variants in gene CFTR reported as likely benign for Cystic fibrosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1123
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.274-179G>A rs1429566 0.24654
NM_000492.4(CFTR):c.1767-136T>C rs11978434 0.20764
NM_000492.4(CFTR):c.489+91A>G rs56094102 0.02063
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.1584+1179A>G rs191397416 0.00558
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000492.4(CFTR):c.1210-15del rs371831442 0.00192
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000492.4(CFTR):c.580-92T>A rs117548166 0.00133
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.3718-79T>C rs397508597 0.00096
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000492.4(CFTR):c.274-6586A>G rs555473089 0.00052
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.54-6168A>G rs753840683 0.00037
NM_000492.4(CFTR):c.1766+73T>G rs397508299 0.00036
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) rs145540754 0.00031
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000492.4(CFTR):c.1584+12T>C rs193922502 0.00028
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_000492.4(CFTR):c.3874-540A>G rs565351573 0.00024
NM_000492.4(CFTR):c.2424T>C (p.Tyr808=) rs143954792 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000492.4(CFTR):c.54-8086A>G rs756806855 0.00015
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000492.4(CFTR):c.2620-97C>T rs146376436 0.00011
NM_000492.4(CFTR):c.738G>A (p.Lys246=) rs35033453 0.00011
NM_000492.4(CFTR):c.2619+2973A>G rs569442197 0.00010
NM_000492.4(CFTR):c.1210-15G>T rs947648829 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2909-6T>C rs369612622 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.3468+51C>A rs777394766 0.00007
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=) rs1800134 0.00007
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=) rs375845215 0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738 0.00006
NM_000492.4(CFTR):c.3783G>T (p.Leu1261=) rs771812900 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.489+87A>G rs969399514 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000492.4(CFTR):c.1209+12T>A rs748021847 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.1767-16T>C rs200170245 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000492.4(CFTR):c.2475C>T (p.Asn825=) rs746961486 0.00005
NM_000492.4(CFTR):c.3874-4A>G rs201381687 0.00005
NM_000492.4(CFTR):c.510T>A (p.Arg170=) rs780772620 0.00005
NM_000492.4(CFTR):c.66A>G (p.Pro22=) rs748899228 0.00005
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu) rs397508332 0.00004
NM_000492.4(CFTR):c.2052A>G (p.Lys684=) rs750642366 0.00004
NM_000492.4(CFTR):c.2490+14G>T rs573016418 0.00004
NM_000492.4(CFTR):c.2805A>G (p.Leu935=) rs368967922 0.00004
NM_000492.4(CFTR):c.2832G>A (p.Val944=) rs193922512 0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 0.00004
NM_000492.4(CFTR):c.3964-28G>A rs397508651 0.00004
NM_000492.4(CFTR):c.4206C>T (p.His1402=) rs368044495 0.00004
NM_000492.4(CFTR):c.1047G>A (p.Ala349=) rs200520623 0.00003
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=) rs397508155 0.00003
NM_000492.4(CFTR):c.1164G>A (p.Thr388=) rs1800088 0.00003
NM_000492.4(CFTR):c.147A>G (p.Leu49=) rs140444668 0.00003
NM_000492.4(CFTR):c.1500C>A (p.Gly500=) rs762619288 0.00003
NM_000492.4(CFTR):c.1680-26T>C rs397508265 0.00003
NM_000492.4(CFTR):c.1734A>G (p.Leu578=) rs201025424 0.00003
NM_000492.4(CFTR):c.1932C>G (p.Leu644=) rs779674687 0.00003
NM_000492.4(CFTR):c.2703C>T (p.Asn901=) rs764201518 0.00003
NM_000492.4(CFTR):c.2736G>A (p.Ser912=) rs200901072 0.00003
NM_000492.4(CFTR):c.274-8T>C rs1186141962 0.00003
NM_000492.4(CFTR):c.2908+12G>C rs184074547 0.00003
NM_000492.4(CFTR):c.2908+15C>G rs766686188 0.00003
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=) rs763937782 0.00003
NM_000492.4(CFTR):c.489+8T>G rs727504712 0.00003
NM_000492.4(CFTR):c.53+4A>T rs372610364 0.00003
NM_000492.4(CFTR):c.1050C>G (p.Val350=) rs1038437842 0.00002
NM_000492.4(CFTR):c.1287C>T (p.Phe429=) rs763577850 0.00002
NM_000492.4(CFTR):c.1290C>T (p.Phe430=) rs764640445 0.00002
NM_000492.4(CFTR):c.1518C>A (p.Ile506=) rs1800092 0.00002
NM_000492.4(CFTR):c.1680-13A>G rs757981933 0.00002
NM_000492.4(CFTR):c.2016A>G (p.Glu672=) rs1312105870 0.00002
NM_000492.4(CFTR):c.2184T>G (p.Ser728=) rs779304728 0.00002
NM_000492.4(CFTR):c.2241G>A (p.Ala747=) rs146645194 0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=) rs201888075 0.00002
NM_000492.4(CFTR):c.2262G>C (p.Val754=) rs1201012182 0.00002
NM_000492.4(CFTR):c.2322A>T (p.Thr774=) rs778581398 0.00002
NM_000492.4(CFTR):c.2373A>G (p.Thr791=) rs202115503 0.00002
NM_000492.4(CFTR):c.2568C>T (p.His856=) rs761255045 0.00002
NM_000492.4(CFTR):c.2620-17G>A rs1306021109 0.00002
NM_000492.4(CFTR):c.2908+19G>C rs370683572 0.00002
NM_000492.4(CFTR):c.3368-10G>A rs1060504847 0.00002
NM_000492.4(CFTR):c.336T>C (p.Asp112=) rs909596175 0.00002
NM_000492.4(CFTR):c.3627A>G (p.Gln1209=) rs770069168 0.00002
NM_000492.4(CFTR):c.3723C>A (p.Gly1241=) rs185065886 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=) rs547248892 0.00002
NM_000492.4(CFTR):c.3874-7G>A rs776663932 0.00002
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=) rs1800132 0.00002
NM_000492.4(CFTR):c.417C>T (p.His139=) rs760281820 0.00002
NM_000492.4(CFTR):c.589T>C (p.Leu197=) rs755619078 0.00002
NM_000492.4(CFTR):c.609C>T (p.Ile203=) rs1800081 0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_000492.4(CFTR):c.810A>G (p.Gln270=) rs767312350 0.00002
NM_000492.4(CFTR):c.869+8G>T rs773933167 0.00002
NM_000492.4(CFTR):c.1026C>T (p.Phe342=) rs928312842 0.00001
NM_000492.4(CFTR):c.1036C>T (p.Leu346=) rs575762281 0.00001
NM_000492.4(CFTR):c.1117-31A>G rs1554381590 0.00001
NM_000492.4(CFTR):c.1117-7T>C rs745505328 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1218G>A (p.Gly406=) rs532798256 0.00001
NM_000492.4(CFTR):c.1392+10T>C rs1371427830 0.00001
NM_000492.4(CFTR):c.1392+12G>T rs2896226 0.00001
NM_000492.4(CFTR):c.1393-13G>A rs779389972 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=) rs747504631 0.00001
NM_000492.4(CFTR):c.1557C>T (p.Ser519=) rs757736710 0.00001
NM_000492.4(CFTR):c.15T>C (p.Pro5=) rs751475070 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1707T>C (p.Tyr569=) rs397508278 0.00001
NM_000492.4(CFTR):c.1711T>C (p.Leu571=) rs774376246 0.00001
NM_000492.4(CFTR):c.1766+8C>G rs1474138131 0.00001
NM_000492.4(CFTR):c.1770T>C (p.Cys590=) rs1277496713 0.00001
NM_000492.4(CFTR):c.1809C>T (p.Val603=) rs777795393 0.00001
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe) rs1048183757 0.00001
NM_000492.4(CFTR):c.1845A>G (p.Lys615=) rs1792032957 0.00001
NM_000492.4(CFTR):c.1926A>C (p.Ser642=) rs1554389299 0.00001
NM_000492.4(CFTR):c.1929A>G (p.Lys643=) rs1792035121 0.00001
NM_000492.4(CFTR):c.2028T>C (p.Pro676=) rs751504707 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.2112A>G (p.Pro704=) rs926782023 0.00001
NM_000492.4(CFTR):c.2142G>T (p.Val714=) rs1216958032 0.00001
NM_000492.4(CFTR):c.2220A>G (p.Pro740=) rs1792044298 0.00001
NM_000492.4(CFTR):c.222G>A (p.Arg74=) rs1562884025 0.00001
NM_000492.4(CFTR):c.2253C>T (p.Arg751=) rs760893687 0.00001
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser) rs766541549 0.00001
NM_000492.4(CFTR):c.2280G>A (p.Thr760=) rs138634146 0.00001
NM_000492.4(CFTR):c.2391C>T (p.Ala797=) rs773521854 0.00001
NM_000492.4(CFTR):c.2442A>G (p.Gln814=) rs1366393014 0.00001
NM_000492.4(CFTR):c.2460A>T (p.Ile820=) rs369664216 0.00001
NM_000492.4(CFTR):c.2490+12T>A rs1185896776 0.00001
NM_000492.4(CFTR):c.2490+7A>T rs751864459 0.00001
NM_000492.4(CFTR):c.2491-8T>C rs540776134 0.00001
NM_000492.4(CFTR):c.2505T>C (p.Asp835=) rs761043298 0.00001
NM_000492.4(CFTR):c.2526A>G (p.Ala842=) rs758128209 0.00001
NM_000492.4(CFTR):c.2544A>T (p.Thr848=) rs751242146 0.00001
NM_000492.4(CFTR):c.2565C>A (p.Val855=) rs1233428222 0.00001
NM_000492.4(CFTR):c.258C>A (p.Ile86=) rs374992300 0.00001
NM_000492.4(CFTR):c.2619+17G>T rs1439697748 0.00001
NM_000492.4(CFTR):c.2691T>C (p.His897=) rs1792257064 0.00001
NM_000492.4(CFTR):c.274-13T>C rs1021474992 0.00001
NM_000492.4(CFTR):c.2742T>C (p.Tyr914=) rs769879940 0.00001
NM_000492.4(CFTR):c.2751C>T (p.Tyr917=) rs1274886789 0.00001
NM_000492.4(CFTR):c.2757C>T (p.Tyr919=) rs1408746819 0.00001
NM_000492.4(CFTR):c.2766A>G (p.Val922=) rs762906556 0.00001
NM_000492.4(CFTR):c.27C>T (p.Ala9=) rs1255831708 0.00001
NM_000492.4(CFTR):c.2808A>G (p.Pro936=) rs397508438 0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) rs193922513 0.00001
NM_000492.4(CFTR):c.2909-9A>G rs778526355 0.00001
NM_000492.4(CFTR):c.2931C>T (p.Ser977=) rs1333735364 0.00001
NM_000492.4(CFTR):c.294G>A (p.Gln98=) rs1225964754 0.00001
NM_000492.4(CFTR):c.2988+13A>T rs1182945291 0.00001
NM_000492.4(CFTR):c.2988+20G>A rs183819332 0.00001
NM_000492.4(CFTR):c.300C>G (p.Leu100=) rs1206224160 0.00001
NM_000492.4(CFTR):c.333G>A (p.Pro111=) rs776878618 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3375A>G (p.Gly1125=) rs751140170 0.00001
NM_000492.4(CFTR):c.3441A>G (p.Val1147=) rs375687401 0.00001
NM_000492.4(CFTR):c.357C>T (p.Ile119=) rs1264742569 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000492.4(CFTR):c.3591C>T (p.His1197=) rs1393226501 0.00001
NM_000492.4(CFTR):c.3603T>C (p.Asp1201=) rs1399548884 0.00001
NM_000492.4(CFTR):c.3681A>G (p.Leu1227=) rs943312470 0.00001
NM_000492.4(CFTR):c.3718-16C>T rs1311755783 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.3780A>G (p.Leu1260=) rs112339787 0.00001
NM_000492.4(CFTR):c.3873+15T>G rs200482114 0.00001
NM_000492.4(CFTR):c.3873+7A>T rs752993761 0.00001
NM_000492.4(CFTR):c.3873+9A>G rs763211778 0.00001
NM_000492.4(CFTR):c.3874-14C>G rs184271150 0.00001
NM_000492.4(CFTR):c.3903A>G (p.Arg1301=) rs774683612 0.00001
NM_000492.4(CFTR):c.3963+9G>A rs370196195 0.00001
NM_000492.4(CFTR):c.3964-6C>T rs1357128849 0.00001
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=) rs886061952 0.00001
NM_000492.4(CFTR):c.406C>T (p.Leu136=) rs1351515691 0.00001
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=) rs759891255 0.00001
NM_000492.4(CFTR):c.4107T>C (p.Leu1369=) rs772750690 0.00001
NM_000492.4(CFTR):c.4110T>C (p.Asp1370=) rs1793345654 0.00001
NM_000492.4(CFTR):c.4136+12A>G rs777853603 0.00001
NM_000492.4(CFTR):c.4137-4C>A rs766178879 0.00001
NM_000492.4(CFTR):c.4137-7T>C rs1400171855 0.00001
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=) rs397508683 0.00001
NM_000492.4(CFTR):c.4242+8T>C rs1258671235 0.00001
NM_000492.4(CFTR):c.475T>C (p.Leu159=) rs769183771 0.00001
NM_000492.4(CFTR):c.489+25A>G rs531830892 0.00001
NM_000492.4(CFTR):c.489+7C>T rs770608125 0.00001
NM_000492.4(CFTR):c.490-7C>A rs374318903 0.00001
NM_000492.4(CFTR):c.537A>G (p.Gln179=) rs991635265 0.00001
NM_000492.4(CFTR):c.54-8T>A rs778197563 0.00001
NM_000492.4(CFTR):c.579+34A>G rs148209839 0.00001
NM_000492.4(CFTR):c.588A>G (p.Ala196=) rs749896021 0.00001
NM_000492.4(CFTR):c.612T>G (p.Ala204=) rs369247323 0.00001
NM_000492.4(CFTR):c.640C>T (p.Leu214=) rs188457893 0.00001
NM_000492.4(CFTR):c.720A>G (p.Leu240=) rs1344097861 0.00001
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys) rs758012554 0.00001
NM_000492.4(CFTR):c.744-15T>C rs369149477 0.00001
NM_000492.4(CFTR):c.744-6T>G rs878854022 0.00001
NM_000492.4(CFTR):c.801A>G (p.Glu267=) rs1394905892 0.00001
NM_000492.4(CFTR):c.869+25A>G rs1554380840 0.00001
NM_000492.4(CFTR):c.900C>A (p.Ala300=) rs146652541 0.00001
NM_000492.4(CFTR):c.927C>G (p.Ala309=) rs1800084 0.00001
NM_000492.4(CFTR):c.93C>A (p.Arg31=) rs766315026 0.00001
NM_000492.4(CFTR):c.942G>T (p.Gly314=) rs1244183935 0.00001
NM_000492.4(CFTR):c.972C>G (p.Pro324=) rs1799834 0.00001
NM_000492.4(CFTR):c.978A>G (p.Ala326=) rs757622174 0.00001
NM_000492.4(CFTR):c.979C>T (p.Leu327=) rs1360839108 0.00001
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.4(CFTR):c.*133del rs145697705
NM_000492.4(CFTR):c.1014C>A (p.Thr338=)
NM_000492.4(CFTR):c.1017C>T (p.Thr339=) rs1359708278
NM_000492.4(CFTR):c.1032T>C (p.Ile344=)
NM_000492.4(CFTR):c.1035T>C (p.Val345=)
NM_000492.4(CFTR):c.1038G>A (p.Leu346=) rs2116684331
NM_000492.4(CFTR):c.1041C>G (p.Arg347=) rs2116684356
NM_000492.4(CFTR):c.1047G>T (p.Ala349=) rs200520623
NM_000492.4(CFTR):c.1050C>T (p.Val350=)
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1059A>G (p.Gln353=) rs1800087
NM_000492.4(CFTR):c.105A>C (p.Ser35=) rs2116635193
NM_000492.4(CFTR):c.1071T>C (p.Ala357=)
NM_000492.4(CFTR):c.1074A>G (p.Val358=) rs200708728
NM_000492.4(CFTR):c.1077A>G (p.Gln359=) rs761324191
NM_000492.4(CFTR):c.1080A>G (p.Thr360=) rs201246833
NM_000492.4(CFTR):c.108C>T (p.Asp36=)
NM_000492.4(CFTR):c.1092T>A (p.Ser364=) rs1584789482
NM_000492.4(CFTR):c.1095T>A (p.Leu365=)
NM_000492.4(CFTR):c.1098A>T (p.Gly366=)
NM_000492.4(CFTR):c.1116+12T>G
NM_000492.4(CFTR):c.1116+15T>A
NM_000492.4(CFTR):c.1116+18T>C
NM_000492.4(CFTR):c.1116+7T>C rs200659687
NM_000492.4(CFTR):c.1117-12T>C
NM_000492.4(CFTR):c.1117-15C>G
NM_000492.4(CFTR):c.1117-17C>T
NM_000492.4(CFTR):c.1117-26_1117-25del rs397508159
NM_000492.4(CFTR):c.1117-64G>A
NM_000492.4(CFTR):c.1117-64G>C
NM_000492.4(CFTR):c.1117-6A>G
NM_000492.4(CFTR):c.1117-8A>G rs897417102
NM_000492.4(CFTR):c.1117-9T>C
NM_000492.4(CFTR):c.1131G>A (p.Lys377=)
NM_000492.4(CFTR):c.1137A>G (p.Glu379=)
NM_000492.4(CFTR):c.1146A>C (p.Thr382=)
NM_000492.4(CFTR):c.1146A>G (p.Thr382=)
NM_000492.4(CFTR):c.1146A>T (p.Thr382=)
NM_000492.4(CFTR):c.1147T>C (p.Leu383=)
NM_000492.4(CFTR):c.114C>T (p.Tyr38=)
NM_000492.4(CFTR):c.1152A>G (p.Glu384=)
NM_000492.4(CFTR):c.1155T>C (p.Tyr385=)
NM_000492.4(CFTR):c.1158C>T (p.Asn386=)
NM_000492.4(CFTR):c.1159T>C (p.Leu387=) rs2115882338
NM_000492.4(CFTR):c.1161A>G (p.Leu387=) rs1799062301
NM_000492.4(CFTR):c.1164G>T (p.Thr388=) rs1800088
NM_000492.4(CFTR):c.1167T>C (p.Thr389=) rs2115882403
NM_000492.4(CFTR):c.1170A>C (p.Thr390=) rs2115882431
NM_000492.4(CFTR):c.1170A>G (p.Thr390=)
NM_000492.4(CFTR):c.1176A>G (p.Val392=) rs542860881
NM_000492.4(CFTR):c.1185G>A (p.Glu395=)
NM_000492.4(CFTR):c.1191A>T (p.Val397=)
NM_000492.4(CFTR):c.1209+10T>C
NM_000492.4(CFTR):c.1209+11T>C
NM_000492.4(CFTR):c.1209+13A>T
NM_000492.4(CFTR):c.1209+15A>G
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1209+80G>A rs948980243
NM_000492.4(CFTR):c.1209+9T>G
NM_000492.4(CFTR):c.120C>T (p.Ile40=) rs376538363
NM_000492.4(CFTR):c.1210-11_1210-10insGT rs1584793368
NM_000492.4(CFTR):c.1210-11_1210-10insGTGT
NM_000492.4(CFTR):c.1210-11_1210-9delinsG rs2115902456
NM_000492.4(CFTR):c.1210-13_1210-11dup
NM_000492.4(CFTR):c.1210-14_1210-13insTT
NM_000492.4(CFTR):c.1210-15_1210-13delinsT rs1584793324
NM_000492.4(CFTR):c.1210-15_1210-13delinsTT
NM_000492.4(CFTR):c.1210-15_1210-13delinsTTT
NM_000492.4(CFTR):c.1210-17G>T
NM_000492.4(CFTR):c.1210-17_1210-13delinsTTT
NM_000492.4(CFTR):c.1210-19G>A
NM_000492.4(CFTR):c.1210-307GT[14] rs3034794
NM_000492.4(CFTR):c.1210-30T>G
NM_000492.4(CFTR):c.1210-6dup rs1805177
NM_000492.4(CFTR):c.1212A>T (p.Gly404=)
NM_000492.4(CFTR):c.1221A>G (p.Glu407=) rs2115902714
NM_000492.4(CFTR):c.1222T>C (p.Leu408=)
NM_000492.4(CFTR):c.123T>C (p.Pro41=) rs1798379857
NM_000492.4(CFTR):c.1245C>T (p.Asn415=)
NM_000492.4(CFTR):c.1248T>C (p.Asn416=)
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.4(CFTR):c.1263T>C (p.Thr421=)
NM_000492.4(CFTR):c.1269T>C (p.Asn423=) rs376039579
NM_000492.4(CFTR):c.1272T>C (p.Gly424=) rs2115903186
NM_000492.4(CFTR):c.1272T>G (p.Gly424=)
NM_000492.4(CFTR):c.1275T>C (p.Asp425=) rs1562895009
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) rs2896225
NM_000492.4(CFTR):c.1284C>G (p.Leu428=)
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
NM_000492.4(CFTR):c.1296T>C (p.Asn432=)
NM_000492.4(CFTR):c.1299C>T (p.Phe433=)
NM_000492.4(CFTR):c.12G>T (p.Ser4=) rs1158877973
NM_000492.4(CFTR):c.1302A>G (p.Ser434=)
NM_000492.4(CFTR):c.1305T>C (p.Leu435=)
NM_000492.4(CFTR):c.1308T>G (p.Leu436=)
NM_000492.4(CFTR):c.1311T>C (p.Gly437=) rs1562895049
NM_000492.4(CFTR):c.1317T>C (p.Pro439=) rs1562895052
NM_000492.4(CFTR):c.1317T>G (p.Pro439=) rs1562895052
NM_000492.4(CFTR):c.1332T>C (p.Ile444=)
NM_000492.4(CFTR):c.1341G>A (p.Lys447=)
NM_000492.4(CFTR):c.1353A>G (p.Gly451=) rs1220983447
NM_000492.4(CFTR):c.1356G>A (p.Gln452=)
NM_000492.4(CFTR):c.1359G>A (p.Leu453=)
NM_000492.4(CFTR):c.135T>A (p.Ser45=)
NM_000492.4(CFTR):c.135T>G (p.Ser45=)
NM_000492.4(CFTR):c.1362G>A (p.Leu454=)
NM_000492.4(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.4(CFTR):c.1371T>C (p.Ala457=)
NM_000492.4(CFTR):c.1371T>G (p.Ala457=)
NM_000492.4(CFTR):c.1386A>G (p.Ala462=)
NM_000492.4(CFTR):c.1392+11T>C
NM_000492.4(CFTR):c.1392+12del
NM_000492.4(CFTR):c.1392+14T>G
NM_000492.4(CFTR):c.1392+15C>G
NM_000492.4(CFTR):c.1392+16T>A
NM_000492.4(CFTR):c.1392+19A>G
NM_000492.4(CFTR):c.1392+19A>T
NM_000492.4(CFTR):c.1392+2787A>G
NM_000492.4(CFTR):c.1392+7C>T
NM_000492.4(CFTR):c.1392+9T>C
NM_000492.4(CFTR):c.1393-18G>A rs397508199
NM_000492.4(CFTR):c.1393-20A>G
NM_000492.4(CFTR):c.1393-26_1393-16del
NM_000492.4(CFTR):c.1393-4C>A rs1799416194
NM_000492.4(CFTR):c.1393-4C>G rs1799416194
NM_000492.4(CFTR):c.1393-4C>T
NM_000492.4(CFTR):c.1393-565G>T
NM_000492.4(CFTR):c.1393-6T>C rs966524603
NM_000492.4(CFTR):c.1393-8A>T rs2115937364
NM_000492.4(CFTR):c.1395T>C (p.Thr465=)
NM_000492.4(CFTR):c.1401T>C (p.Leu467=)
NM_000492.4(CFTR):c.1402C>T (p.Leu468=)
NM_000492.4(CFTR):c.1422A>G (p.Glu474=) rs1222883922
NM_000492.4(CFTR):c.1423C>T (p.Leu475=)
NM_000492.4(CFTR):c.1428G>A (p.Glu476=)
NM_000492.4(CFTR):c.1431T>C (p.Pro477=)
NM_000492.4(CFTR):c.1434A>C (p.Ser478=)
NM_000492.4(CFTR):c.1437G>A (p.Glu479=) rs754152822
NM_000492.4(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.4(CFTR):c.1449G>A (p.Lys483=)
NM_000492.4(CFTR):c.1452C>T (p.His484=)
NM_000492.4(CFTR):c.1455T>C (p.Ser485=)
NM_000492.4(CFTR):c.1458A>G (p.Gly486=)
NM_000492.4(CFTR):c.1464T>C (p.Ile488=) rs1799419575
NM_000492.4(CFTR):c.1467A>G (p.Ser489=) rs1799419729
NM_000492.4(CFTR):c.1470C>T (p.Phe490=) rs1799420001
NM_000492.4(CFTR):c.1479G>A (p.Gln493=)
NM_000492.4(CFTR):c.147A>C (p.Leu49=)
NM_000492.4(CFTR):c.1485C>G (p.Ser495=)
NM_000492.4(CFTR):c.1500C>G (p.Gly500=)
NM_000492.4(CFTR):c.1503C>T (p.Thr501=)
NM_000492.4(CFTR):c.1509A>G (p.Lys503=)
NM_000492.4(CFTR):c.150T>G (p.Ser50=) rs2116635296
NM_000492.4(CFTR):c.1515T>C (p.Asn505=)
NM_000492.4(CFTR):c.1524T>C (p.Phe508=)
NM_000492.4(CFTR):c.1536T>C (p.Tyr512=) rs2115938553
NM_000492.4(CFTR):c.1539T>C (p.Asp513=)
NM_000492.4(CFTR):c.1542A>G (p.Glu514=)
NM_000492.4(CFTR):c.1551C>T (p.Tyr517=)
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1560C>T (p.Val520=) rs768151081
NM_000492.4(CFTR):c.1576C>T (p.Leu526=)
NM_000492.4(CFTR):c.157T>C (p.Leu53=)
NM_000492.4(CFTR):c.1584+1000del
NM_000492.4(CFTR):c.1584+10T>G
NM_000492.4(CFTR):c.1584+11_1584+13dup rs1554384454
NM_000492.4(CFTR):c.1584+13G>A
NM_000492.4(CFTR):c.1584+15G>T
NM_000492.4(CFTR):c.1584+18A>C
NM_000492.4(CFTR):c.1584+4639G>T rs575943791
NM_000492.4(CFTR):c.1584+9C>T rs2115939119
NM_000492.4(CFTR):c.1585-13846A>G
NM_000492.4(CFTR):c.1585-7957A>G rs145778105
NM_000492.4(CFTR):c.159G>A (p.Leu53=) rs2116635315
NM_000492.4(CFTR):c.164+10T>A rs1310634696
NM_000492.4(CFTR):c.164+10T>C rs1310634696
NM_000492.4(CFTR):c.164+10delinsATGA
NM_000492.4(CFTR):c.164+14C>G
NM_000492.4(CFTR):c.164+15A>G
NM_000492.4(CFTR):c.164+16T>C
NM_000492.4(CFTR):c.164+18G>A
NM_000492.4(CFTR):c.164+9A>G
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.164+9_164+10insATG rs1798381614
NM_000492.4(CFTR):c.1680-20A>C
NM_000492.4(CFTR):c.1680-871_1680-870delinsGA rs727504811
NM_000492.4(CFTR):c.1680-877G>A rs397508261
NM_000492.4(CFTR):c.1680-9T>C rs1252191433
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1686A>G (p.Val562=)
NM_000492.4(CFTR):c.16C>T (p.Leu6=) rs1554373095
NM_000492.4(CFTR):c.1704G>A (p.Leu568=) rs397508275
NM_000492.4(CFTR):c.1719T>A (p.Ser573=)
NM_000492.4(CFTR):c.1722T>A (p.Pro574=)
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.1732C>T (p.Leu578=) rs979121392
NM_000492.4(CFTR):c.1746A>C (p.Thr582=) rs751058333
NM_000492.4(CFTR):c.1746A>G (p.Thr582=)
NM_000492.4(CFTR):c.1749A>G (p.Glu583=) rs2116025833
NM_000492.4(CFTR):c.1758A>T (p.Ile586=) rs1462572352
NM_000492.4(CFTR):c.1766+10T>C
NM_000492.4(CFTR):c.1766+11del rs754798684
NM_000492.4(CFTR):c.1766+16A>G rs2116026057
NM_000492.4(CFTR):c.1766+79T>A
NM_000492.4(CFTR):c.1766+7T>A
NM_000492.4(CFTR):c.1766+80T>A
NM_000492.4(CFTR):c.1766+80T>C
NM_000492.4(CFTR):c.1766+81T>A
NM_000492.4(CFTR):c.1766+82A>T
NM_000492.4(CFTR):c.1766+8C>T rs1474138131
NM_000492.4(CFTR):c.1767-11A>G
NM_000492.4(CFTR):c.1767-13T>G rs2116029937
NM_000492.4(CFTR):c.1767-19A>G
NM_000492.4(CFTR):c.1767-4A>G rs2116029980
NM_000492.4(CFTR):c.1767-7C>T rs2116029974
NM_000492.4(CFTR):c.1767-9A>G rs1223678085
NM_000492.4(CFTR):c.1773C>T (p.Val591=)
NM_000492.4(CFTR):c.1779A>G (p.Lys593=) rs1217712466
NM_000492.4(CFTR):c.1780C>T (p.Leu594=)
NM_000492.4(CFTR):c.1782G>T (p.Leu594=) rs2116030062
NM_000492.4(CFTR):c.1797T>C (p.Thr599=)
NM_000492.4(CFTR):c.1804T>C (p.Leu602=) rs1380798382
NM_000492.4(CFTR):c.1824A>G (p.Glu608=) rs2116030297
NM_000492.4(CFTR):c.1828T>C (p.Leu610=)
NM_000492.4(CFTR):c.1860T>C (p.His620=) rs397508315
NM_000492.4(CFTR):c.1863A>G (p.Glu621=)
NM_000492.4(CFTR):c.1875T>C (p.Tyr625=)
NM_000492.4(CFTR):c.1881T>C (p.Tyr627=)
NM_000492.4(CFTR):c.1890T>C (p.Phe630=)
NM_000492.4(CFTR):c.1899C>T (p.Leu633=)
NM_000492.4(CFTR):c.1902A>G (p.Gln634=) rs2116030586
NM_000492.4(CFTR):c.1905T>C (p.Asn635=)
NM_000492.4(CFTR):c.1932C>T (p.Leu644=)
NM_000492.4(CFTR):c.1938A>G (p.Gly646=)
NM_000492.4(CFTR):c.1941T>C (p.Cys647=)
NM_000492.4(CFTR):c.1947T>C (p.Ser649=)
NM_000492.4(CFTR):c.1950C>T (p.Phe650=) rs200204024
NM_000492.4(CFTR):c.1953C>T (p.Asp651=)
NM_000492.4(CFTR):c.1962T>C (p.Ser654=) rs1792036042
NM_000492.4(CFTR):c.1974A>G (p.Arg658=) rs2116031024
NM_000492.4(CFTR):c.198T>C (p.Asn66=)
NM_000492.4(CFTR):c.1995C>A (p.Thr665=)
NM_000492.4(CFTR):c.2001C>T (p.His667=) rs772786141
NM_000492.4(CFTR):c.2007C>T (p.Phe669=) rs958140362
NM_000492.4(CFTR):c.2010A>C (p.Ser670=)
NM_000492.4(CFTR):c.2019A>G (p.Gly673=) rs2116031424
NM_000492.4(CFTR):c.2022T>C (p.Asp674=) rs1259091056
NM_000492.4(CFTR):c.2025T>G (p.Ala675=)
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala) rs762888022
NM_000492.4(CFTR):c.2046A>G (p.Thr682=) rs2116031574
NM_000492.4(CFTR):c.2058T>C (p.Ser686=)
NM_000492.4(CFTR):c.2058T>G (p.Ser686=) rs1470966740
NM_000492.4(CFTR):c.2061T>C (p.Phe687=)
NM_000492.4(CFTR):c.2064A>G (p.Lys688=)
NM_000492.4(CFTR):c.2067G>A (p.Gln689=)
NM_000492.4(CFTR):c.2070T>C (p.Thr690=)
NM_000492.4(CFTR):c.2076G>A (p.Glu692=)
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.4(CFTR):c.2082G>A (p.Gly694=) rs1584812453
NM_000492.4(CFTR):c.2082G>C (p.Gly694=)
NM_000492.4(CFTR):c.2094G>A (p.Lys698=)
NM_000492.4(CFTR):c.2106C>G (p.Leu702=) rs1800102
NM_000492.4(CFTR):c.2106C>T (p.Leu702=) rs1800102
NM_000492.4(CFTR):c.2109T>C (p.Asn703=) rs770386926
NM_000492.4(CFTR):c.2115C>A (p.Ile705=) rs1453360094
NM_000492.4(CFTR):c.2115C>T (p.Ile705=)
NM_000492.4(CFTR):c.2121T>A (p.Ser707=) rs2116031968
NM_000492.4(CFTR):c.2124A>T (p.Ile708=)
NM_000492.4(CFTR):c.2127A>G (p.Arg709=) rs2116032010
NM_000492.4(CFTR):c.2130A>G (p.Lys710=)
NM_000492.4(CFTR):c.2136C>T (p.Ser712=)
NM_000492.4(CFTR):c.2139T>A (p.Ile713=)
NM_000492.4(CFTR):c.2139T>C (p.Ile713=) rs763930691
NM_000492.4(CFTR):c.2148G>A (p.Lys716=) rs2116032125
NM_000492.4(CFTR):c.2151T>C (p.Thr717=)
NM_000492.4(CFTR):c.2151T>G (p.Thr717=) rs2116032144
NM_000492.4(CFTR):c.2154C>T (p.Pro718=)
NM_000492.4(CFTR):c.2166T>C (p.Asn722=)
NM_000492.4(CFTR):c.216C>G (p.Ala72=)
NM_000492.4(CFTR):c.216C>T (p.Ala72=) rs1033366496
NM_000492.4(CFTR):c.2172C>A (p.Ile724=)
NM_000492.4(CFTR):c.2172C>T (p.Ile724=) rs368599862
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
NM_000492.4(CFTR):c.2181T>C (p.Asp727=) rs1792043547
NM_000492.4(CFTR):c.2187T>C (p.Asp729=)
NM_000492.4(CFTR):c.2190G>A (p.Glu730=)
NM_000492.4(CFTR):c.2202A>G (p.Arg734=)
NM_000492.4(CFTR):c.2208G>A (p.Leu736=)
NM_000492.4(CFTR):c.220C>A (p.Arg74=)
NM_000492.4(CFTR):c.2211C>T (p.Ser737=)
NM_000492.4(CFTR):c.2217A>G (p.Val739=)
NM_000492.4(CFTR):c.2226T>C (p.Ser742=) rs2116032463
NM_000492.4(CFTR):c.2229G>A (p.Glu743=)
NM_000492.4(CFTR):c.2235A>G (p.Gly745=)
NM_000492.4(CFTR):c.2262G>T (p.Val754=)
NM_000492.4(CFTR):c.2283T>G (p.Leu761=)
NM_000492.4(CFTR):c.2286G>A (p.Gln762=)
NM_000492.4(CFTR):c.2288C>G (p.Ala763Gly)
NM_000492.4(CFTR):c.2289A>G (p.Ala763=) rs1792046083
NM_000492.4(CFTR):c.228T>C (p.Cys76=) rs777536750
NM_000492.4(CFTR):c.2290C>A (p.Arg764=)
NM_000492.4(CFTR):c.2295G>A (p.Arg765=)
NM_000492.4(CFTR):c.2301G>A (p.Gln767=) rs1386366130
NM_000492.4(CFTR):c.2307C>G (p.Val769=) rs1241371944
NM_000492.4(CFTR):c.2310G>T (p.Leu770=)
NM_000492.4(CFTR):c.2313C>T (p.Asn771=) rs768301278
NM_000492.4(CFTR):c.231T>C (p.Phe77=) rs2116641592
NM_000492.4(CFTR):c.2322A>G (p.Thr774=)
NM_000492.4(CFTR):c.2328A>G (p.Ser776=) rs2116033048
NM_000492.4(CFTR):c.2346C>T (p.Asn782=)
NM_000492.4(CFTR):c.234C>T (p.Phe78=)
NM_000492.4(CFTR):c.2373A>C (p.Thr791=)
NM_000492.4(CFTR):c.2374C>A (p.Arg792=)
NM_000492.4(CFTR):c.2397G>A (p.Gln799=)
NM_000492.4(CFTR):c.2413C>T (p.Leu805=) rs2116033549
NM_000492.4(CFTR):c.2415G>C (p.Leu805=)
NM_000492.4(CFTR):c.2421A>C (p.Ile807=)
NM_000492.4(CFTR):c.2427A>T (p.Ser809=)
NM_000492.4(CFTR):c.2434T>C (p.Leu812=)
NM_000492.4(CFTR):c.2436A>G (p.Leu812=)
NM_000492.4(CFTR):c.2439T>C (p.Ser813=) rs2116033726
NM_000492.4(CFTR):c.2454G>A (p.Leu818=)
NM_000492.4(CFTR):c.2472T>A (p.Ile824=)
NM_000492.4(CFTR):c.2472T>C (p.Ile824=)
NM_000492.4(CFTR):c.2484C>T (p.Asp828=)
NM_000492.4(CFTR):c.2490+11A>G rs1482271794
NM_000492.4(CFTR):c.2490+14G>A rs573016418
NM_000492.4(CFTR):c.2490+18G>T
NM_000492.4(CFTR):c.2490+19G>A
NM_000492.4(CFTR):c.2490+19G>C rs368353825
NM_000492.4(CFTR):c.2490+19G>T
NM_000492.4(CFTR):c.2490+6del rs2116034194
NM_000492.4(CFTR):c.2490+7A>G rs751864459
NM_000492.4(CFTR):c.2490+8T>C
NM_000492.4(CFTR):c.2491-10T>C
NM_000492.4(CFTR):c.2491-11C>A
NM_000492.4(CFTR):c.2491-18C>T
NM_000492.4(CFTR):c.2491-19C>A
NM_000492.4(CFTR):c.2491-5T>C
NM_000492.4(CFTR):c.2491-7T>A
NM_000492.4(CFTR):c.2493G>A (p.Glu831=)
NM_000492.4(CFTR):c.2496C>T (p.Cys832=) rs397508388
NM_000492.4(CFTR):c.24G>A (p.Lys8=) rs1800071
NM_000492.4(CFTR):c.2508T>C (p.Asp836=)
NM_000492.4(CFTR):c.2529G>A (p.Val843=)
NM_000492.4(CFTR):c.2529G>T (p.Val843=)
NM_000492.4(CFTR):c.2532T>G (p.Thr844=)
NM_000492.4(CFTR):c.2547C>T (p.Tyr849=) rs397508394
NM_000492.4(CFTR):c.2556T>C (p.Tyr852=)
NM_000492.4(CFTR):c.255A>G (p.Gly85=)
NM_000492.4(CFTR):c.2562T>A (p.Thr854=)
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.2565C>G (p.Val855=) rs1233428222
NM_000492.4(CFTR):c.2571G>A (p.Lys857=) rs397508398
NM_000492.4(CFTR):c.2574C>T (p.Ser858=) rs2116039690
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
NM_000492.4(CFTR):c.2589A>G (p.Leu863=)
NM_000492.4(CFTR):c.258C>T (p.Ile86=)
NM_000492.4(CFTR):c.2605A>G (p.Ile869Val)
NM_000492.4(CFTR):c.2619+11T>G
NM_000492.4(CFTR):c.2619+12C>G
NM_000492.4(CFTR):c.2619+13T>C
NM_000492.4(CFTR):c.2619+14A>G
NM_000492.4(CFTR):c.2619+16T>C
NM_000492.4(CFTR):c.2619+19A>G
NM_000492.4(CFTR):c.2619+20_2619+24del
NM_000492.4(CFTR):c.2619+7A>C rs2116039906
NM_000492.4(CFTR):c.2619+7A>G rs2116039906
NM_000492.4(CFTR):c.2619+8T>C
NM_000492.4(CFTR):c.2619+8T>G
NM_000492.4(CFTR):c.2620-11T>C
NM_000492.4(CFTR):c.2620-12G>A
NM_000492.4(CFTR):c.2620-12G>T
NM_000492.4(CFTR):c.2620-14T>C
NM_000492.4(CFTR):c.2620-15C>T rs139379077
NM_000492.4(CFTR):c.2620-18T>C
NM_000492.4(CFTR):c.2620-19G>A
NM_000492.4(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.4(CFTR):c.2620-4C>A rs1180219519
NM_000492.4(CFTR):c.2620-7A>G rs1335322650
NM_000492.4(CFTR):c.2620-80G>A
NM_000492.4(CFTR):c.2620-80G>T
NM_000492.4(CFTR):c.2620-81T>G
NM_000492.4(CFTR):c.2620-82G>T
NM_000492.4(CFTR):c.2620-8C>T
NM_000492.4(CFTR):c.2620-9C>G rs1239102386
NM_000492.4(CFTR):c.2628T>C (p.Ala876=) rs2116059284
NM_000492.4(CFTR):c.2632T>C (p.Leu878=) rs2116059306
NM_000492.4(CFTR):c.2637T>C (p.Val879=)
NM_000492.4(CFTR):c.2641C>T (p.Leu881=) rs2116059368
NM_000492.4(CFTR):c.264A>G (p.Leu88=)
NM_000492.4(CFTR):c.2657+11C>T
NM_000492.4(CFTR):c.2657+12A>G rs1792246845
NM_000492.4(CFTR):c.2657+16C>T
NM_000492.4(CFTR):c.2657+17C>T rs368543375
NM_000492.4(CFTR):c.2657+19A>G
NM_000492.4(CFTR):c.2657+7A>T rs750080974
NM_000492.4(CFTR):c.2658-13A>G
NM_000492.4(CFTR):c.2658-16C>T
NM_000492.4(CFTR):c.2658-4A>G rs2116061003
NM_000492.4(CFTR):c.2658-5T>C
NM_000492.4(CFTR):c.2658-6T>C rs2116060994
NM_000492.4(CFTR):c.2658-8C>T rs2116060987
NM_000492.4(CFTR):c.2673C>T (p.Asp891=)
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2689C>T (p.His897Tyr)
NM_000492.4(CFTR):c.2694T>C (p.Ser898=) rs2116061252
NM_000492.4(CFTR):c.2697A>G (p.Arg899=) rs2116061262
NM_000492.4(CFTR):c.2700T>C (p.Asn900=)
NM_000492.4(CFTR):c.2706C>T (p.Ser902=)
NM_000492.4(CFTR):c.2715G>A (p.Val905=)
NM_000492.4(CFTR):c.2724C>T (p.Thr908=)
NM_000492.4(CFTR):c.273+10019C>T
NM_000492.4(CFTR):c.273+10T>G
NM_000492.4(CFTR):c.273+11C>T
NM_000492.4(CFTR):c.273+13T>C
NM_000492.4(CFTR):c.273+14T>C
NM_000492.4(CFTR):c.273+16G>T
NM_000492.4(CFTR):c.273+19C>A
NM_000492.4(CFTR):c.273+8T>A rs1189108407
NM_000492.4(CFTR):c.2730C>A (p.Thr910=) rs2116061425
NM_000492.4(CFTR):c.2730C>G (p.Thr910=)
NM_000492.4(CFTR):c.2730C>T (p.Thr910=)
NM_000492.4(CFTR):c.2733T>C (p.Ser911=)
NM_000492.4(CFTR):c.2736G>C (p.Ser912=) rs200901072
NM_000492.4(CFTR):c.2739T>C (p.Tyr913=) rs149790377
NM_000492.4(CFTR):c.274-10C>G rs397508425
NM_000492.4(CFTR):c.274-10C>T
NM_000492.4(CFTR):c.274-12C>T
NM_000492.4(CFTR):c.274-16T>C
NM_000492.4(CFTR):c.274-18G>A
NM_000492.4(CFTR):c.274-7526T>A
NM_000492.4(CFTR):c.274-7T>C
NM_000492.4(CFTR):c.274-8558G>A rs1798697575
NM_000492.4(CFTR):c.274-8984C>T
NM_000492.4(CFTR):c.274-9C>A
NM_000492.4(CFTR):c.274-9C>G rs575711764
NM_000492.4(CFTR):c.274-9C>T
NM_000492.4(CFTR):c.2745G>A (p.Val915=)
NM_000492.4(CFTR):c.2772C>T (p.Asp924=) rs1562911610
NM_000492.4(CFTR):c.2790A>C (p.Gly930=)
NM_000492.4(CFTR):c.2790A>G (p.Gly930=)
NM_000492.4(CFTR):c.2793C>T (p.Phe931=)
NM_000492.4(CFTR):c.279C>T (p.Val93=)
NM_000492.4(CFTR):c.2802T>C (p.Gly934=)
NM_000492.4(CFTR):c.2811G>T (p.Leu937=)
NM_000492.4(CFTR):c.2817T>C (p.His939=) rs770410806
NM_000492.4(CFTR):c.2820T>C (p.Thr940=) rs60887846
NM_000492.4(CFTR):c.2826C>T (p.Ile942=)
NM_000492.4(CFTR):c.282C>G (p.Thr94=)
NM_000492.4(CFTR):c.2832G>T (p.Val944=)
NM_000492.4(CFTR):c.2835G>T (p.Ser945=) rs193922513
NM_000492.4(CFTR):c.2838A>G (p.Lys946=) rs2116062142
NM_000492.4(CFTR):c.2842T>C (p.Leu948=) rs2116062157
NM_000492.4(CFTR):c.2850C>T (p.His950=)
NM_000492.4(CFTR):c.2859A>G (p.Leu953=)
NM_000492.4(CFTR):c.285A>G (p.Lys95=) rs1584784870
NM_000492.4(CFTR):c.2880T>C (p.Pro960=)
NM_000492.4(CFTR):c.2889C>T (p.Thr963=)
NM_000492.4(CFTR):c.288A>C (p.Ala96=)
NM_000492.4(CFTR):c.288A>G (p.Ala96=) rs2116669907
NM_000492.4(CFTR):c.2895C>T (p.Asn965=)
NM_000492.4(CFTR):c.2899T>C (p.Leu967=) rs1554391080
NM_000492.4(CFTR):c.2901G>A (p.Leu967=)
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
NM_000492.4(CFTR):c.2908+10T>C rs2116062549
NM_000492.4(CFTR):c.2908+13del
NM_000492.4(CFTR):c.2908+14T>G rs2116062569
NM_000492.4(CFTR):c.2908+14_2908+21dup
NM_000492.4(CFTR):c.2908+20A>G
NM_000492.4(CFTR):c.2908+8A>G rs1792264028
NM_000492.4(CFTR):c.2908+8A>T rs1792264028
NM_000492.4(CFTR):c.2909-10T>C
NM_000492.4(CFTR):c.2909-11G>A
NM_000492.4(CFTR):c.2909-12del rs2116069177
NM_000492.4(CFTR):c.2909-19G>C
NM_000492.4(CFTR):c.2909-7A>T rs1792304646
NM_000492.4(CFTR):c.2913G>C (p.Gly971=)
NM_000492.4(CFTR):c.2916T>C (p.Ile972=)
NM_000492.4(CFTR):c.2919T>A (p.Leu973=) rs1453045670
NM_000492.4(CFTR):c.291A>G (p.Val97=)
NM_000492.4(CFTR):c.2922T>C (p.Asn974=)
NM_000492.4(CFTR):c.2925A>G (p.Arg975=)
NM_000492.4(CFTR):c.2934A>G (p.Lys978=) rs2116069501
NM_000492.4(CFTR):c.2937T>C (p.Asp979=) rs1792305947
NM_000492.4(CFTR):c.2955C>T (p.Asp985=)
NM_000492.4(CFTR):c.2970C>T (p.Thr990=)
NM_000492.4(CFTR):c.2979C>T (p.Asp993=) rs2116069838
NM_000492.4(CFTR):c.297T>G (p.Pro99=) rs2116669955
NM_000492.4(CFTR):c.2982C>T (p.Phe994=)
NM_000492.4(CFTR):c.2988+10A>C rs2116069977
NM_000492.4(CFTR):c.2988+16T>A
NM_000492.4(CFTR):c.2988+19C>T
NM_000492.4(CFTR):c.2988+20G>T
NM_000492.4(CFTR):c.2988+9A>T
NM_000492.4(CFTR):c.300C>T (p.Leu100=) rs1206224160
NM_000492.4(CFTR):c.303A>G (p.Leu101=)
NM_000492.4(CFTR):c.304C>T (p.Leu102=) rs1798849790
NM_000492.4(CFTR):c.306G>T (p.Leu102=)
NM_000492.4(CFTR):c.309A>G (p.Gly103=)
NM_000492.4(CFTR):c.30C>T (p.Ser10=) rs1369001389
NM_000492.4(CFTR):c.312A>G (p.Arg104=) rs2116670032
NM_000492.4(CFTR):c.321T>A (p.Ala107=) rs778204477
NM_000492.4(CFTR):c.321T>G (p.Ala107=)
NM_000492.4(CFTR):c.327T>C (p.Tyr109=)
NM_000492.4(CFTR):c.330C>T (p.Asp110=)
NM_000492.4(CFTR):c.3368-13del
NM_000492.4(CFTR):c.3368-14T>C
NM_000492.4(CFTR):c.3368-17C>G
NM_000492.4(CFTR):c.3368-17C>T
NM_000492.4(CFTR):c.3368-19G>A rs374104839
NM_000492.4(CFTR):c.3368-4A>G rs748811222
NM_000492.4(CFTR):c.3368-581G>A
NM_000492.4(CFTR):c.3372A>G (p.Glu1124=)
NM_000492.4(CFTR):c.3375A>C (p.Gly1125=) rs751140170
NM_000492.4(CFTR):c.3399G>A (p.Leu1133=) rs1792456177
NM_000492.4(CFTR):c.3403T>C (p.Leu1135=)
NM_000492.4(CFTR):c.3405A>G (p.Leu1135=)
NM_000492.4(CFTR):c.3408C>T (p.Ala1136=)
NM_000492.4(CFTR):c.3423T>C (p.Ser1141=)
NM_000492.4(CFTR):c.3426A>G (p.Thr1142=) rs2116096536
NM_000492.4(CFTR):c.3427T>C (p.Leu1143=) rs768276513
NM_000492.4(CFTR):c.342G>A (p.Lys114=)
NM_000492.4(CFTR):c.3432G>A (p.Gln1144=)
NM_000492.4(CFTR):c.3447C>A (p.Ser1149=)
NM_000492.4(CFTR):c.345G>A (p.Glu115=) rs2116670184
NM_000492.4(CFTR):c.3468+11T>C
NM_000492.4(CFTR):c.3468+12C>T rs1415573737
NM_000492.4(CFTR):c.3468+13A>G
NM_000492.4(CFTR):c.3468+180A>G
NM_000492.4(CFTR):c.3469-10T>C
NM_000492.4(CFTR):c.3469-11T>G
NM_000492.4(CFTR):c.3469-14T>C
NM_000492.4(CFTR):c.3469-16_3469-15del rs2116128700
NM_000492.4(CFTR):c.3469-4904G>A
NM_000492.4(CFTR):c.3469-4del
NM_000492.4(CFTR):c.3469-7A>G
NM_000492.4(CFTR):c.3469-9T>G
NM_000492.4(CFTR):c.3472C>A (p.Arg1158=) rs79850223
NM_000492.4(CFTR):c.3474A>T (p.Arg1158=) rs2116128804
NM_000492.4(CFTR):c.3480G>A (p.Val1160=) rs1298788637
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3504C>T (p.Asp1168=)
NM_000492.4(CFTR):c.3513A>C (p.Thr1171=)
NM_000492.4(CFTR):c.351C>T (p.Arg117=) rs2116670233
NM_000492.4(CFTR):c.3528C>T (p.Thr1176=)
NM_000492.4(CFTR):c.3531G>A (p.Lys1177=)
NM_000492.4(CFTR):c.3543A>G (p.Pro1181=)
NM_000492.4(CFTR):c.3546C>T (p.Tyr1182=) rs397508581
NM_000492.4(CFTR):c.354T>A (p.Ser118=)
NM_000492.4(CFTR):c.354T>C (p.Ser118=) rs2116670246
NM_000492.4(CFTR):c.3552T>C (p.Asn1184=)
NM_000492.4(CFTR):c.3555C>A (p.Gly1185=)
NM_000492.4(CFTR):c.3555C>T (p.Gly1185=) rs2116129370
NM_000492.4(CFTR):c.3567A>G (p.Lys1189=)
NM_000492.4(CFTR):c.357C>A (p.Ile119=) rs1264742569
NM_000492.4(CFTR):c.3588A>G (p.Ser1196=)
NM_000492.4(CFTR):c.3606C>T (p.Asp1202=) rs2116129667
NM_000492.4(CFTR):c.3609C>T (p.Ile1203=)
NM_000492.4(CFTR):c.360G>C (p.Ala120=)
NM_000492.4(CFTR):c.360G>T (p.Ala120=)
NM_000492.4(CFTR):c.3615C>G (p.Pro1205=)
NM_000492.4(CFTR):c.3615C>T (p.Pro1205=)
NM_000492.4(CFTR):c.3618A>T (p.Ser1206=)
NM_000492.4(CFTR):c.3621G>A (p.Gly1207=)
NM_000492.4(CFTR):c.3621G>T (p.Gly1207=)
NM_000492.4(CFTR):c.3636C>G (p.Val1212=)
NM_000492.4(CFTR):c.3648A>T (p.Thr1216=)
NM_000492.4(CFTR):c.3657C>T (p.Tyr1219=) rs2116129887
NM_000492.4(CFTR):c.3666T>C (p.Gly1222=)
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.4(CFTR):c.3684G>A (p.Glu1228=)
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=) rs139322772
NM_000492.4(CFTR):c.3690T>C (p.Ile1230=)
NM_000492.4(CFTR):c.3699A>G (p.Ser1233=)
NM_000492.4(CFTR):c.3711C>G (p.Gly1237=)
NM_000492.4(CFTR):c.3717+11A>T
NM_000492.4(CFTR):c.3717+13C>T
NM_000492.4(CFTR):c.3717+14A>G
NM_000492.4(CFTR):c.3717+16T>G rs749483814
NM_000492.4(CFTR):c.3717+40A>T
NM_000492.4(CFTR):c.3718-14C>T
NM_000492.4(CFTR):c.3718-15A>C
NM_000492.4(CFTR):c.3718-18A>G
NM_000492.4(CFTR):c.3718-24G>T rs374013084
NM_000492.4(CFTR):c.3718-5034G>A
NM_000492.4(CFTR):c.3718-7104A>T
NM_000492.4(CFTR):c.3718-917T>C
NM_000492.4(CFTR):c.3718-9A>T
NM_000492.4(CFTR):c.3726C>G (p.Leu1242=) rs758818517
NM_000492.4(CFTR):c.3726C>T (p.Leu1242=) rs758818517
NM_000492.4(CFTR):c.3727T>C (p.Leu1243=) rs1392953776
NM_000492.4(CFTR):c.3735A>G (p.Arg1245=)
NM_000492.4(CFTR):c.3738T>C (p.Thr1246=)
NM_000492.4(CFTR):c.3741A>G (p.Gly1247=)
NM_000492.4(CFTR):c.3741A>T (p.Gly1247=) rs1792931608
NM_000492.4(CFTR):c.3744A>G (p.Ser1248=)
NM_000492.4(CFTR):c.3747G>A (p.Gly1249=) rs794727373
NM_000492.4(CFTR):c.3756T>C (p.Thr1252=)
NM_000492.4(CFTR):c.3762A>G (p.Leu1254=)
NM_000492.4(CFTR):c.3765A>G (p.Ser1255=)
NM_000492.4(CFTR):c.3772T>C (p.Leu1258=) rs202074317
NM_000492.4(CFTR):c.3780A>C (p.Leu1260=)
NM_000492.4(CFTR):c.3783G>C (p.Leu1261=) rs771812900
NM_000492.4(CFTR):c.378C>T (p.Gly126=)
NM_000492.4(CFTR):c.3792A>G (p.Glu1264=)
NM_000492.4(CFTR):c.3798A>G (p.Glu1266=)
NM_000492.4(CFTR):c.379T>C (p.Leu127=) rs2116670348
NM_000492.4(CFTR):c.3801C>A (p.Ile1267=)
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=) rs1800129
NM_000492.4(CFTR):c.3810T>C (p.Asp1270=)
NM_000492.4(CFTR):c.3816G>A (p.Val1272=)
NM_000492.4(CFTR):c.3819T>G (p.Ser1273=)
NM_000492.4(CFTR):c.381A>G (p.Leu127=)
NM_000492.4(CFTR):c.3828A>T (p.Ser1276=)
NM_000492.4(CFTR):c.3840A>G (p.Gln1280=)
NM_000492.4(CFTR):c.3849G>A (p.Arg1283=)
NM_000492.4(CFTR):c.384C>T (p.Cys128=) rs1388235792
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3855C>G (p.Ala1285=)
NM_000492.4(CFTR):c.3873+10A>G rs1584837299
NM_000492.4(CFTR):c.3873+18G>A
NM_000492.4(CFTR):c.3873+20C>T
NM_000492.4(CFTR):c.3873+33A>G rs397508622
NM_000492.4(CFTR):c.3873+4987A>T
NM_000492.4(CFTR):c.3874-14_3874-10del
NM_000492.4(CFTR):c.3874-19C>A
NM_000492.4(CFTR):c.3874-26dup rs1554396371
NM_000492.4(CFTR):c.3874-27TTC[2] rs397508623
NM_000492.4(CFTR):c.3874-4A>C rs201381687
NM_000492.4(CFTR):c.387T>C (p.Leu129=)
NM_000492.4(CFTR):c.3900T>C (p.Phe1300=)
NM_000492.4(CFTR):c.3909C>T (p.Asn1303=)
NM_000492.4(CFTR):c.390C>G (p.Leu130=) rs1411911535
NM_000492.4(CFTR):c.3910T>C (p.Leu1304=) rs1478450897
NM_000492.4(CFTR):c.3918C>T (p.Pro1306=) rs1800132
NM_000492.4(CFTR):c.3945A>C (p.Ile1315=)
NM_000492.4(CFTR):c.3954T>G (p.Val1318=)
NM_000492.4(CFTR):c.3960T>C (p.Asp1320=) rs2116195757
NM_000492.4(CFTR):c.3963+15T>C rs1269502695
NM_000492.4(CFTR):c.3963+19A>G
NM_000492.4(CFTR):c.3963+20T>G
NM_000492.4(CFTR):c.3964-17A>G
NM_000492.4(CFTR):c.3964-18T>C
NM_000492.4(CFTR):c.3964-20A>C
NM_000492.4(CFTR):c.3964-7A>T rs2116220618
NM_000492.4(CFTR):c.3964-9T>A rs1562928845
NM_000492.4(CFTR):c.3964-9T>C
NM_000492.4(CFTR):c.3966T>A (p.Val1322=)
NM_000492.4(CFTR):c.396T>C (p.Ile132=)
NM_000492.4(CFTR):c.3972C>G (p.Leu1324=)
NM_000492.4(CFTR):c.3972C>T (p.Leu1324=)
NM_000492.4(CFTR):c.3973A>C (p.Arg1325=) rs1231511097
NM_000492.4(CFTR):c.3978T>C (p.Ser1326=)
NM_000492.4(CFTR):c.3981G>A (p.Val1327=) rs2116220727
NM_000492.4(CFTR):c.3996T>C (p.Pro1332=) rs2116220796
NM_000492.4(CFTR):c.39C>T (p.Ser13=)
NM_000492.4(CFTR):c.4008C>T (p.Asp1336=)
NM_000492.4(CFTR):c.400A>C (p.Arg134=)
NM_000492.4(CFTR):c.4011T>C (p.Phe1337=)
NM_000492.4(CFTR):c.4020G>A (p.Val1340=)
NM_000492.4(CFTR):c.4026G>A (p.Gly1342=)
NM_000492.4(CFTR):c.4026G>C (p.Gly1342=) rs1584848821
NM_000492.4(CFTR):c.4026G>T (p.Gly1342=)
NM_000492.4(CFTR):c.402G>A (p.Arg134=)
NM_000492.4(CFTR):c.4035C>A (p.Val1345=) rs2116220979
NM_000492.4(CFTR):c.4044T>C (p.His1348=)
NM_000492.4(CFTR):c.4047C>A (p.Gly1349=)
NM_000492.4(CFTR):c.4047C>T (p.Gly1349=) rs2116221068
NM_000492.4(CFTR):c.4053G>A (p.Lys1351=)
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4057T>C (p.Leu1353=)
NM_000492.4(CFTR):c.405A>C (p.Thr135=)
NM_000492.4(CFTR):c.405A>G (p.Thr135=)
NM_000492.4(CFTR):c.4068G>A (p.Leu1356=)
NM_000492.4(CFTR):c.4077T>C (p.Ser1359=) rs1449323479
NM_000492.4(CFTR):c.4077T>G (p.Ser1359=) rs1449323479
NM_000492.4(CFTR):c.4083C>T (p.Leu1361=)
NM_000492.4(CFTR):c.408G>C (p.Leu136=)
NM_000492.4(CFTR):c.4098C>T (p.Ile1366=)
NM_000492.4(CFTR):c.4104G>A (p.Leu1368=)
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=) rs1793345960
NM_000492.4(CFTR):c.411C>T (p.Leu137=)
NM_000492.4(CFTR):c.4126T>C (p.Leu1376=) rs2116221499
NM_000492.4(CFTR):c.4136+12A>T rs777853603
NM_000492.4(CFTR):c.4136+13T>C
NM_000492.4(CFTR):c.4136+14G>A rs1389376517
NM_000492.4(CFTR):c.4136+14G>T
NM_000492.4(CFTR):c.4136+20T>A
NM_000492.4(CFTR):c.4137-12T>C
NM_000492.4(CFTR):c.4137-20G>T
NM_000492.4(CFTR):c.4137-4C>T rs766178879
NM_000492.4(CFTR):c.4137-8T>C
NM_000492.4(CFTR):c.4140A>T (p.Thr1380=) rs2116222559
NM_000492.4(CFTR):c.4152T>C (p.Ile1384=)
NM_000492.4(CFTR):c.4161T>C (p.Thr1387=)
NM_000492.4(CFTR):c.4164A>G (p.Leu1388=)
NM_000492.4(CFTR):c.4173A>T (p.Ala1391=)
NM_000492.4(CFTR):c.4188A>G (p.Thr1396=) rs1322987429
NM_000492.4(CFTR):c.4191A>T (p.Val1397=) rs2116222773
NM_000492.4(CFTR):c.4194T>C (p.Ile1398=) rs2116222791
NM_000492.4(CFTR):c.4197C>T (p.Leu1399=) rs79688066
NM_000492.4(CFTR):c.4218A>G (p.Ala1406=)
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=) rs1793360215
NM_000492.4(CFTR):c.4233A>G (p.Gln1411=)
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=) rs541737583
NM_000492.4(CFTR):c.423C>T (p.Ala141=) rs1584785096
NM_000492.4(CFTR):c.4242+19A>C rs1554397608
NM_000492.4(CFTR):c.4242+20C>T rs1229413013
NM_000492.4(CFTR):c.4242+7C>T rs1793361429
NM_000492.4(CFTR):c.432C>T (p.Gly144=) rs1431645851
NM_000492.4(CFTR):c.441C>T (p.His147=)
NM_000492.4(CFTR):c.453G>A (p.Gln151=)
NM_000492.4(CFTR):c.45T>G (p.Leu15=) rs1212474322
NM_000492.4(CFTR):c.480T>C (p.Ile160=)
NM_000492.4(CFTR):c.489+10C>G rs1447914513
NM_000492.4(CFTR):c.489+11C>T
NM_000492.4(CFTR):c.489+87_489+88dup rs1554379931
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000492.4(CFTR):c.490-13A>G
NM_000492.4(CFTR):c.490-14C>A
NM_000492.4(CFTR):c.490-15C>T rs2157735
NM_000492.4(CFTR):c.490-17T>G rs2116674831
NM_000492.4(CFTR):c.490-26del rs781120531
NM_000492.4(CFTR):c.490-4T>G
NM_000492.4(CFTR):c.490-8T>C
NM_000492.4(CFTR):c.490-8T>G
NM_000492.4(CFTR):c.490-9T>A rs2116674841
NM_000492.4(CFTR):c.492T>A (p.Thr164=)
NM_000492.4(CFTR):c.492T>C (p.Thr164=)
NM_000492.4(CFTR):c.498G>A (p.Lys166=)
NM_000492.4(CFTR):c.499C>T (p.Leu167=)
NM_000492.4(CFTR):c.504A>G (p.Ser168=)
NM_000492.4(CFTR):c.516A>G (p.Leu172=)
NM_000492.4(CFTR):c.525A>T (p.Ile175=) rs2116674963
NM_000492.4(CFTR):c.528T>C (p.Ser176=) rs1798911676
NM_000492.4(CFTR):c.53+10T>C rs2116604777
NM_000492.4(CFTR):c.53+11G>A
NM_000492.4(CFTR):c.53+12G>A
NM_000492.4(CFTR):c.53+13C>A
NM_000492.4(CFTR):c.53+14C>T
NM_000492.4(CFTR):c.53+16A>G
NM_000492.4(CFTR):c.53+17C>A rs1797979411
NM_000492.4(CFTR):c.53+18C>A
NM_000492.4(CFTR):c.53+19G>T
NM_000492.4(CFTR):c.53+3348G>A
NM_000492.4(CFTR):c.53+8G>A rs1584764672
NM_000492.4(CFTR):c.53+9G>T rs745414764
NM_000492.4(CFTR):c.54-11C>T
NM_000492.4(CFTR):c.54-11_54-8del rs750763328
NM_000492.4(CFTR):c.54-13del
NM_000492.4(CFTR):c.54-15_54-13del
NM_000492.4(CFTR):c.54-4T>G rs2116635058
NM_000492.4(CFTR):c.54-8T>C rs778197563
NM_000492.4(CFTR):c.54-9T>C rs1584774278
NM_000492.4(CFTR):c.540T>G (p.Leu180=)
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.4(CFTR):c.555C>T (p.Ser185=)
NM_000492.4(CFTR):c.561C>T (p.Asn187=) rs397508754
NM_000492.4(CFTR):c.562C>T (p.Leu188=)
NM_000492.4(CFTR):c.567C>T (p.Asn189=) rs397508755
NM_000492.4(CFTR):c.579+10T>C
NM_000492.4(CFTR):c.579+11A>G
NM_000492.4(CFTR):c.579+16T>C
NM_000492.4(CFTR):c.579+20A>G
NM_000492.4(CFTR):c.579+8C>A
NM_000492.4(CFTR):c.579+8C>G
NM_000492.4(CFTR):c.580-14C>A
NM_000492.4(CFTR):c.580-15G>T
NM_000492.4(CFTR):c.580-18T>C
NM_000492.4(CFTR):c.580-9A>G rs1584786873
NM_000492.4(CFTR):c.582A>G (p.Gly194=) rs561270322
NM_000492.4(CFTR):c.582A>T (p.Gly194=)
NM_000492.4(CFTR):c.585T>C (p.Leu195=)
NM_000492.4(CFTR):c.594A>C (p.Ala198=) rs1481956057
NM_000492.4(CFTR):c.600C>T (p.Phe200=) rs753492211
NM_000492.4(CFTR):c.603G>A (p.Val201=)
NM_000492.4(CFTR):c.609C>A (p.Ile203=)
NM_000492.4(CFTR):c.60C>A (p.Thr20=) rs534609552
NM_000492.4(CFTR):c.60C>T (p.Thr20=)
NM_000492.4(CFTR):c.618G>A (p.Leu206=)
NM_000492.4(CFTR):c.621A>G (p.Gln207=)
NM_000492.4(CFTR):c.630C>A (p.Leu210=)
NM_000492.4(CFTR):c.630C>T (p.Leu210=) rs1584786975
NM_000492.4(CFTR):c.633C>T (p.Leu211=) rs2116676523
NM_000492.4(CFTR):c.639G>A (p.Gly213=)
NM_000492.4(CFTR):c.63A>G (p.Arg21=) rs1356545960
NM_000492.4(CFTR):c.645C>T (p.Ile215=)
NM_000492.4(CFTR):c.651G>A (p.Glu217=) rs1422913967
NM_000492.4(CFTR):c.652T>C (p.Leu218=) rs1798932836
NM_000492.4(CFTR):c.655T>C (p.Leu219=)
NM_000492.4(CFTR):c.657A>G (p.Leu219=) rs1798933085
NM_000492.4(CFTR):c.663G>T (p.Ala221=)
NM_000492.4(CFTR):c.669C>G (p.Ala223=) rs2116676667
NM_000492.4(CFTR):c.672C>T (p.Phe224=)
NM_000492.4(CFTR):c.675T>C (p.Cys225=)
NM_000492.4(CFTR):c.678A>T (p.Gly226=) rs1584787037
NM_000492.4(CFTR):c.684T>C (p.Gly228=)
NM_000492.4(CFTR):c.688C>T (p.Leu230=) rs201410793
NM_000492.4(CFTR):c.696C>A (p.Val232=) rs2116676736
NM_000492.4(CFTR):c.696C>T (p.Val232=)
NM_000492.4(CFTR):c.705T>C (p.Leu235=)
NM_000492.4(CFTR):c.705T>G (p.Leu235=) rs762380161
NM_000492.4(CFTR):c.717G>A (p.Gly239=)
NM_000492.4(CFTR):c.717G>T (p.Gly239=) rs764661797
NM_000492.4(CFTR):c.718C>T (p.Leu240=)
NM_000492.4(CFTR):c.723G>A (p.Gly241=)
NM_000492.4(CFTR):c.72G>A (p.Leu24=)
NM_000492.4(CFTR):c.743+11A>G
NM_000492.4(CFTR):c.743+11A>T
NM_000492.4(CFTR):c.743+16C>G
NM_000492.4(CFTR):c.743+554A>G
NM_000492.4(CFTR):c.743+8C>T
NM_000492.4(CFTR):c.743+9C>G
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.744-8A>C rs2116678470
NM_000492.4(CFTR):c.744A>G (p.Arg248=)
NM_000492.4(CFTR):c.756T>C (p.Ala252=)
NM_000492.4(CFTR):c.765C>T (p.Ile255=) rs1202176665
NM_000492.4(CFTR):c.768T>C (p.Ser256=) rs2116678553
NM_000492.4(CFTR):c.774A>G (p.Arg258=) rs1798960814
NM_000492.4(CFTR):c.780G>A (p.Val260=)
NM_000492.4(CFTR):c.780G>C (p.Val260=)
NM_000492.4(CFTR):c.789A>G (p.Ser263=)
NM_000492.4(CFTR):c.789A>T (p.Ser263=) rs1484039409
NM_000492.4(CFTR):c.798T>A (p.Ile266=) rs2116678632
NM_000492.4(CFTR):c.807C>A (p.Ile269=)
NM_000492.4(CFTR):c.807C>T (p.Ile269=)
NM_000492.4(CFTR):c.813T>G (p.Ser271=) rs1060504846
NM_000492.4(CFTR):c.819G>A (p.Lys273=)
NM_000492.4(CFTR):c.822A>G (p.Ala274=) rs2116678695
NM_000492.4(CFTR):c.825C>T (p.Tyr275=)
NM_000492.4(CFTR):c.828C>T (p.Cys276=)
NM_000492.4(CFTR):c.846A>G (p.Glu282=)
NM_000492.4(CFTR):c.84C>T (p.Tyr28=)
NM_000492.4(CFTR):c.867A>G (p.Arg289=) rs1798963965
NM_000492.4(CFTR):c.869+11C>A
NM_000492.4(CFTR):c.869+7T>A
NM_000492.4(CFTR):c.869+7T>C rs2116678864
NM_000492.4(CFTR):c.869+8G>A rs773933167
NM_000492.4(CFTR):c.869+8G>C rs773933167
NM_000492.4(CFTR):c.869+9T>C rs1798964448
NM_000492.4(CFTR):c.870-1111A>C
NM_000492.4(CFTR):c.870-1113G>C rs1799002964
NM_000492.4(CFTR):c.870-12T>G
NM_000492.4(CFTR):c.870-13T>C
NM_000492.4(CFTR):c.870-178T>A
NM_000492.4(CFTR):c.870-4A>G rs755173693
NM_000492.4(CFTR):c.870-6T>C
NM_000492.4(CFTR):c.870-8T>C
NM_000492.4(CFTR):c.870-9T>C rs2116683428
NM_000492.4(CFTR):c.876A>G (p.Glu292=) rs2116683514
NM_000492.4(CFTR):c.882A>G (p.Lys294=) rs2116683549
NM_000492.4(CFTR):c.885G>T (p.Leu295=)
NM_000492.4(CFTR):c.891G>A (p.Arg297=)
NM_000492.4(CFTR):c.894G>A (p.Lys298=)
NM_000492.4(CFTR):c.900C>T (p.Ala300=) rs146652541
NM_000492.4(CFTR):c.906G>C (p.Val302=) rs2116683646
NM_000492.4(CFTR):c.90G>A (p.Gln30=)
NM_000492.4(CFTR):c.912C>T (p.Tyr304=)
NM_000492.4(CFTR):c.921C>T (p.Ser307=)
NM_000492.4(CFTR):c.927C>A (p.Ala309=) rs1800084
NM_000492.4(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000492.4(CFTR):c.930C>T (p.Phe310=) rs1230103075
NM_000492.4(CFTR):c.93C>T (p.Arg31=)
NM_000492.4(CFTR):c.954G>A (p.Val318=) rs766189605
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.4(CFTR):c.966G>C (p.Val322=) rs2116683990
NM_000492.4(CFTR):c.969T>A (p.Leu323=)
NM_000492.4(CFTR):c.96G>A (p.Leu32=)
NM_000492.4(CFTR):c.978A>T (p.Ala326=)
NM_000492.4(CFTR):c.981A>T (p.Leu327=)
NM_000492.4(CFTR):c.993C>T (p.Ile331=) rs2116684106
NM_000492.4(CFTR):c.996C>A (p.Ile332=)
NM_000492.4(CFTR):c.996C>T (p.Ile332=)

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