ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 628
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp) rs142864834 0.00025
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) rs145900055 0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) rs150691494 0.00019
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.2665C>T (p.Leu889Phe) rs61738523 0.00015
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln) rs397508395 0.00013
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe) rs1330281974 0.00013
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg) rs142432539 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr) rs201016820 0.00011
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met) rs397508359 0.00010
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val) rs780187979 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr) rs143980575 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) rs397508814 0.00009
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430 0.00008
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met) rs576710089 0.00008
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu) rs78742051 0.00007
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys) rs377731410 0.00006
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506 0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) rs146947665 0.00006
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile) rs772774651 0.00006
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro) rs150177304 0.00006
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys) rs397508720 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000492.4(CFTR):c.662C>T (p.Ala221Val) rs752432390 0.00006
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg) rs397508788 0.00006
NM_000492.4(CFTR):c.842T>C (p.Met281Thr) rs397508802 0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) rs112162204 0.00006
NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys) rs373998255 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg) rs375325315 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561 0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val) rs148604667 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000492.4(CFTR):c.3521A>C (p.Lys1174Thr) rs137875514 0.00005
NM_000492.4(CFTR):c.104C>T (p.Ser35Leu) rs1372627069 0.00004
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg) rs200899224 0.00004
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe) rs772223589 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.1807G>A (p.Val603Ile) rs143036685 0.00004
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln) rs141880790 0.00004
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln) rs369040061 0.00004
NM_000492.4(CFTR):c.26C>T (p.Ala9Val) rs949472192 0.00004
NM_000492.4(CFTR):c.355A>G (p.Ile119Val) rs193922518 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.454A>T (p.Met152Leu) rs397508721 0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) rs200885306 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586 0.00003
NM_000492.4(CFTR):c.1199T>C (p.Phe400Ser) rs1325574209 0.00003
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu) rs748155731 0.00003
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser) rs777850419 0.00003
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser) rs397508185 0.00003
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser) rs139054556 0.00003
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr) rs397508210 0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys) rs773018372 0.00003
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn) rs780526529 0.00003
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn) rs397508335 0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) rs145449046 0.00003
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser) rs138069616 0.00003
NM_000492.4(CFTR):c.246G>A (p.Met82Ile) rs1159096947 0.00003
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys) rs397508381 0.00003
NM_000492.4(CFTR):c.2495G>A (p.Cys832Tyr) rs565589205 0.00003
NM_000492.4(CFTR):c.250T>C (p.Tyr84His) rs745756794 0.00003
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser) rs562851847 0.00003
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe) rs149662778 0.00003
NM_000492.4(CFTR):c.2659A>C (p.Thr887Pro) rs770359007 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu) rs397508443 0.00003
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) rs373561883 0.00003
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met) rs143120209 0.00003
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu) rs397508567 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln) rs763401376 0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys) rs377295859 0.00003
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val) rs773852510 0.00003
NM_000492.4(CFTR):c.377G>T (p.Gly126Val) rs397508609 0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile) rs769931559 0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311 0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val) rs397508670 0.00003
NM_000492.4(CFTR):c.511G>A (p.Val171Ile) rs745468219 0.00003
NM_000492.4(CFTR):c.53+4A>T rs372610364 0.00003
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr) rs748026786 0.00003
NM_000492.4(CFTR):c.634A>G (p.Met212Val) rs540269075 0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) rs775713428 0.00003
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp) rs773509355 0.00003
NM_000492.4(CFTR):c.1186A>T (p.Asn396Tyr) rs753143757 0.00002
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) rs370586917 0.00002
NM_000492.4(CFTR):c.1405A>G (p.Met469Val) rs397508203 0.00002
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys) rs138427145 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) rs374453187 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys) rs755986694 0.00002
NM_000492.4(CFTR):c.2490+5G>T rs764466147 0.00002
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala) rs761531223 0.00002
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile) rs752617117 0.00002
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser) rs185397588 0.00002
NM_000492.4(CFTR):c.2882T>C (p.Met961Thr) rs769377991 0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val) rs749662161 0.00002
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp) rs751474685 0.00002
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu) rs752834717 0.00002
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793 0.00002
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser) rs747324955 0.00002
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser) rs201686600 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.62G>T (p.Arg21Ile) rs777520137 0.00002
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu) rs759726535 0.00002
NM_000492.4(CFTR):c.838G>T (p.Ala280Ser) rs749377803 0.00002
NM_000492.4(CFTR):c.964G>A (p.Val322Met) rs1800085 0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) rs193922533 0.00002
NM_000492.4(CFTR):c.1003A>G (p.Lys335Glu) rs1431852129 0.00001
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys) rs397508147 0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg) rs768589673 0.00001
NM_000492.4(CFTR):c.1137A>C (p.Glu379Asp) rs774308232 0.00001
NM_000492.4(CFTR):c.117A>C (p.Gln39His) rs764522674 0.00001
NM_000492.4(CFTR):c.1209+6A>G rs749054857 0.00001
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) rs766063304 0.00001
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp) rs765791986 0.00001
NM_000492.4(CFTR):c.1315C>A (p.Pro439Thr) rs397508187 0.00001
NM_000492.4(CFTR):c.1340A>G (p.Lys447Arg) rs746941790 0.00001
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr) rs748642635 0.00001
NM_000492.4(CFTR):c.142A>C (p.Asn48His) rs1248202161 0.00001
NM_000492.4(CFTR):c.1430C>A (p.Pro477His) rs886044297 0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) rs754152822 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.1504A>G (p.Ile502Val) rs768243039 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys) rs1554384431 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1732C>G (p.Leu578Val) rs979121392 0.00001
NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser) rs754945422 0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr) rs201978662 0.00001
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met) rs1485998437 0.00001
NM_000492.4(CFTR):c.2068A>G (p.Thr690Ala) rs780579840 0.00001
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val) rs745538406 0.00001
NM_000492.4(CFTR):c.2120C>G (p.Ser707Cys) rs1395267446 0.00001
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val) rs200531709 0.00001
NM_000492.4(CFTR):c.2219C>T (p.Pro740Leu) rs150772285 0.00001
NM_000492.4(CFTR):c.2251C>T (p.Arg751Cys) rs772661780 0.00001
NM_000492.4(CFTR):c.2252G>A (p.Arg751His) rs397508357 0.00001
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser) rs766541549 0.00001
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln) rs1417904716 0.00001
NM_000492.4(CFTR):c.2305G>A (p.Val769Ile) rs1379518832 0.00001
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu) rs397508365 0.00001
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro) rs1291965190 0.00001
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe) rs1314080734 0.00001
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly) rs377447726 0.00001
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser) rs778688276 0.00001
NM_000492.4(CFTR):c.2482G>A (p.Asp828Asn) rs759726447 0.00001
NM_000492.4(CFTR):c.256A>G (p.Ile86Val) rs749432776 0.00001
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser) rs1310658028 0.00001
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val) rs1472821278 0.00001
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys) rs397508418 0.00001
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly) rs766181463 0.00001
NM_000492.4(CFTR):c.2708A>G (p.Tyr903Cys) rs147297080 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu) rs770502501 0.00001
NM_000492.4(CFTR):c.2778G>T (p.Leu926Phe) rs767910302 0.00001
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser) rs750655055 0.00001
NM_000492.4(CFTR):c.2831T>C (p.Val944Ala) rs141747560 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.2860C>T (p.His954Tyr) rs779528411 0.00001
NM_000492.4(CFTR):c.2908+4C>A rs372266030 0.00001
NM_000492.4(CFTR):c.2929T>G (p.Ser977Ala) rs137975784 0.00001
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met) rs748430234 0.00001
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met) rs370181570 0.00001
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys) rs397508469 0.00001
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly) rs770241677 0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly) rs397508549 0.00001
NM_000492.4(CFTR):c.3418A>G (p.Met1140Val) rs774415786 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000492.4(CFTR):c.3488T>G (p.Val1163Gly) rs776696255 0.00001
NM_000492.4(CFTR):c.3511A>G (p.Thr1171Ala) rs778797502 0.00001
NM_000492.4(CFTR):c.3562T>C (p.Ser1188Pro) rs762167681 0.00001
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395 0.00001
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666 0.00001
NM_000492.4(CFTR):c.3642T>A (p.Asp1214Glu) rs1584830230 0.00001
NM_000492.4(CFTR):c.3667G>A (p.Gly1223Arg) rs1320914611 0.00001
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val) rs770358073 0.00001
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg) rs397508594 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe) rs768411899 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg) rs766370233 0.00001
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr) rs397508619 0.00001
NM_000492.4(CFTR):c.3895A>G (p.Thr1299Ala) rs750604866 0.00001
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu) rs193922732 0.00001
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646 0.00001
NM_000492.4(CFTR):c.3963+6G>T rs1793110791 0.00001
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln) rs1313341594 0.00001
NM_000492.4(CFTR):c.403A>T (p.Thr135Ser) rs771512600 0.00001
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe) rs755028771 0.00001
NM_000492.4(CFTR):c.4087A>C (p.Lys1363Gln) rs1060503166 0.00001
NM_000492.4(CFTR):c.4109A>G (p.Asp1370Gly) rs766124395 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu) rs397508677 0.00001
NM_000492.4(CFTR):c.413T>C (p.Leu138Pro) rs1800078 0.00001
NM_000492.4(CFTR):c.4142A>G (p.Tyr1381Cys) rs776388660 0.00001
NM_000492.4(CFTR):c.4159A>G (p.Thr1387Ala) rs1455404428 0.00001
NM_000492.4(CFTR):c.416A>C (p.His139Pro) rs76371115 0.00001
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro) rs375552160 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly) rs970498675 0.00001
NM_000492.4(CFTR):c.4230C>G (p.Cys1410Trp) rs1165501753 0.00001
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu) rs142092183 0.00001
NM_000492.4(CFTR):c.441C>G (p.His147Gln) rs759310470 0.00001
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys) rs149197463 0.00001
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr) rs397508725 0.00001
NM_000492.4(CFTR):c.489+5T>C rs1453085631 0.00001
NM_000492.4(CFTR):c.49T>C (p.Phe17Leu) rs779256353 0.00001
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe) rs1267579802 0.00001
NM_000492.4(CFTR):c.538C>G (p.Leu180Val) rs374163420 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser) rs397508772 0.00001
NM_000492.4(CFTR):c.70T>G (p.Leu24Val) rs1056986309 0.00001
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys) rs758012554 0.00001
NM_000492.4(CFTR):c.841A>G (p.Met281Val) rs755215339 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr) rs148013312 0.00001
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser) rs760319837 0.00001
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe) rs56093012 0.00001
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg) rs141115171 0.00001
NC_000007.13:g.(?_117118376)_(117307162_?)dup
NC_000007.13:g.(?_117199476)_(117280016_?)dup
NC_000007.13:g.(?_117199498)_(117199729_?)dup
NC_000007.13:g.(?_117234964)_(117267864_?)dup
NC_000007.13:g.(?_117267556)_(117267869_?)dup
NC_000007.13:g.(?_117267556)_(117307162_?)dup
NC_000007.13:g.(?_117267566)_(117267869_?)dup
NC_000007.13:g.(?_117280015)_(117307162_?)dup
NC_000007.13:g.(?_117292849)_(117307162_?)dup
NC_000007.13:g.(?_117304722)_(117307162_?)dup
NM_000492.3(CFTR):c.3376_3381delGAAGGA rs1554392764
NM_000492.4(CFTR):c.1009T>C (p.Phe337Leu) rs771716655
NM_000492.4(CFTR):c.1011C>G (p.Phe337Leu) rs1799029121
NM_000492.4(CFTR):c.1016C>A (p.Thr339Asn)
NM_000492.4(CFTR):c.1051A>G (p.Thr351Ala) rs1799031080
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1064C>T (p.Pro355Leu)
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
NM_000492.4(CFTR):c.1077A>G (p.Gln359=) rs761324191
NM_000492.4(CFTR):c.1079C>T (p.Thr360Ile)
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
NM_000492.4(CFTR):c.109A>G (p.Ile37Val) rs759721412
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg) rs1799033866
NM_000492.4(CFTR):c.1116+6G>A
NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys) rs1562892823
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
NM_000492.4(CFTR):c.1153T>A (p.Tyr385Asn)
NM_000492.4(CFTR):c.1153T>C (p.Tyr385His) rs1799062001
NM_000492.4(CFTR):c.1154A>G (p.Tyr385Cys) rs1799062053
NM_000492.4(CFTR):c.1165A>T (p.Thr389Ser)
NM_000492.4(CFTR):c.116A>C (p.Gln39Pro)
NM_000492.4(CFTR):c.1178T>G (p.Val393Gly) rs1799062903
NM_000492.4(CFTR):c.117A>T (p.Gln39His) rs764522674
NM_000492.4(CFTR):c.1189G>C (p.Val397Leu) rs1225700054
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.4(CFTR):c.11C>T (p.Ser4Leu)
NM_000492.4(CFTR):c.1210-12_1210-11insGTG rs4148705
NM_000492.4(CFTR):c.1210-13_1210-8del rs1399483116
NM_000492.4(CFTR):c.1210G>A (p.Gly404Arg)
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val) rs1324302547
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu) rs559197407
NM_000492.4(CFTR):c.1243A>G (p.Asn415Asp)
NM_000492.4(CFTR):c.1269T>A (p.Asn423Lys) rs376039579
NM_000492.4(CFTR):c.1277A>G (p.Asp426Gly)
NM_000492.4(CFTR):c.1282C>G (p.Leu428Val)
NM_000492.4(CFTR):c.1283T>A (p.Leu428His) rs2115903258
NM_000492.4(CFTR):c.1287C>A (p.Phe429Leu) rs763577850
NM_000492.4(CFTR):c.1299C>A (p.Phe433Leu) rs11531593
NM_000492.4(CFTR):c.1303C>G (p.Leu435Val)
NM_000492.4(CFTR):c.1304T>C (p.Leu435Pro)
NM_000492.4(CFTR):c.131A>T (p.Asp44Val)
NM_000492.4(CFTR):c.1328A>T (p.Asp443Val)
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met) rs1799214404
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val) rs1584793570
NM_000492.4(CFTR):c.1346A>G (p.Glu449Gly)
NM_000492.4(CFTR):c.1347A>T (p.Glu449Asp)
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr) rs1799216405
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
NM_000492.4(CFTR):c.1393-3C>A
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
NM_000492.4(CFTR):c.1417G>A (p.Gly473Arg) rs1799417518
NM_000492.4(CFTR):c.1420G>C (p.Glu474Gln)
NM_000492.4(CFTR):c.1423C>G (p.Leu475Val)
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu) rs886044297
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1441A>G (p.Lys481Glu)
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val) rs1799418782
NM_000492.4(CFTR):c.1451A>G (p.His484Arg) rs1427892651
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.4(CFTR):c.1484C>G (p.Ser495Cys)
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.4(CFTR):c.1493T>C (p.Met498Thr)
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser) rs397508219
NM_000492.4(CFTR):c.1496C>T (p.Pro499Leu) rs1584798328
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1528G>T (p.Val510Phe) rs752955846
NM_000492.4(CFTR):c.1535A>G (p.Tyr512Cys) rs1048256995
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.161A>C (p.Glu54Ala)
NM_000492.4(CFTR):c.164+3A>G
NM_000492.4(CFTR):c.164+6T>C
NM_000492.4(CFTR):c.164G>A (p.Arg55Lys)
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr) rs1226880376
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.1685T>C (p.Val562Ala) rs1792006361
NM_000492.4(CFTR):c.1690A>G (p.Lys564Glu)
NM_000492.4(CFTR):c.1693G>T (p.Asp565Tyr)
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn) rs397508282
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly) rs1792007322
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
NM_000492.4(CFTR):c.1738G>A (p.Val580Ile) rs2116025764
NM_000492.4(CFTR):c.1743A>T (p.Leu581Phe)
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly) rs397508297
NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg) rs917625450
NM_000492.4(CFTR):c.1769G>A (p.Cys590Tyr) rs1347776232
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.4(CFTR):c.1810A>C (p.Thr604Pro) rs1554389267
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.4(CFTR):c.1840G>A (p.Asp614Asn) rs397508312
NM_000492.4(CFTR):c.1846A>G (p.Ile616Val)
NM_000492.4(CFTR):c.1848A>G (p.Ile616Met)
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
NM_000492.4(CFTR):c.1874A>C (p.Tyr625Ser)
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys) rs397508320
NM_000492.4(CFTR):c.1920T>G (p.Phe640Leu)
NM_000492.4(CFTR):c.1936G>A (p.Gly646Arg) rs1562907873
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.4(CFTR):c.1960A>T (p.Ser654Cys) rs1800099
NM_000492.4(CFTR):c.1966G>C (p.Glu656Gln)
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp) rs1060503163
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val) rs777973729
NM_000492.4(CFTR):c.1990G>C (p.Glu664Gln)
NM_000492.4(CFTR):c.1992G>T (p.Glu664Asp) rs1792036683
NM_000492.4(CFTR):c.2005T>C (p.Phe669Leu) rs2116031296
NM_000492.4(CFTR):c.2009C>T (p.Ser670Leu)
NM_000492.4(CFTR):c.2014G>A (p.Glu672Lys)
NM_000492.4(CFTR):c.2015_2017del (p.Glu672del) rs397508330
NM_000492.4(CFTR):c.2017G>A (p.Gly673Arg)
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala) rs762888022
NM_000492.4(CFTR):c.2052A>T (p.Lys684Asn) rs750642366
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile) rs372421038
NM_000492.4(CFTR):c.2072G>T (p.Gly691Val)
NM_000492.4(CFTR):c.2083G>A (p.Glu695Lys)
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.4(CFTR):c.2108A>T (p.Asn703Ile)
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
NM_000492.4(CFTR):c.2129A>G (p.Lys710Arg) rs2116032036
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser) rs1003610229
NM_000492.4(CFTR):c.2131T>C (p.Phe711Leu) rs1792042320
NM_000492.4(CFTR):c.2140G>T (p.Val714Leu) rs774199624
NM_000492.4(CFTR):c.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln) rs2116032118
NM_000492.4(CFTR):c.2188G>A (p.Glu730Lys)
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
NM_000492.4(CFTR):c.2205G>C (p.Arg735Ser) rs2116032368
NM_000492.4(CFTR):c.2225C>T (p.Ser742Phe)
NM_000492.4(CFTR):c.2231A>C (p.Gln744Pro)
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.227G>T (p.Cys76Phe)
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr) rs2116032836
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp) rs777536750
NM_000492.4(CFTR):c.2321C>G (p.Thr774Arg)
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
NM_000492.4(CFTR):c.2354G>C (p.Arg785Pro)
NM_000492.4(CFTR):c.2358G>C (p.Lys786Asn)
NM_000492.4(CFTR):c.2360C>A (p.Thr787Lys) rs2116033185
NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)
NM_000492.4(CFTR):c.2389G>T (p.Ala797Ser)
NM_000492.4(CFTR):c.2399C>T (p.Ala800Val)
NM_000492.4(CFTR):c.2403C>G (p.Asn801Lys)
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr) rs1554389471
NM_000492.4(CFTR):c.2426C>T (p.Ser809Leu)
NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr) rs1798471062
NM_000492.4(CFTR):c.2434T>A (p.Leu812Ile)
NM_000492.4(CFTR):c.243T>G (p.Phe81Leu)
NM_000492.4(CFTR):c.244A>G (p.Met82Val) rs1554376431
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
NM_000492.4(CFTR):c.2478AGA[1] (p.Glu827del) rs2116034014
NM_000492.4(CFTR):c.2483A>G (p.Asp828Gly)
NM_000492.4(CFTR):c.2490G>A (p.Lys830=)
NM_000492.4(CFTR):c.249C>G (p.Phe83Leu)
NM_000492.4(CFTR):c.2503G>A (p.Asp835Asn) rs2116039305
NM_000492.4(CFTR):c.2515A>C (p.Ser839Arg) rs2116039371
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile) rs1792097477
NM_000492.4(CFTR):c.2545T>A (p.Tyr849Asn) rs757165481
NM_000492.4(CFTR):c.2546A>G (p.Tyr849Cys) rs780811333
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.2570A>G (p.Lys857Arg) rs1584813860
NM_000492.4(CFTR):c.2573G>A (p.Ser858Asn) rs2116039677
NM_000492.4(CFTR):c.257T>A (p.Ile86Asn) rs1798471787
NM_000492.4(CFTR):c.2626G>A (p.Ala876Thr) rs1328356747
NM_000492.4(CFTR):c.2626G>T (p.Ala876Ser)
NM_000492.4(CFTR):c.2636T>A (p.Val879Asp)
NM_000492.4(CFTR):c.2657+3G>C
NM_000492.4(CFTR):c.2657+3G>T
NM_000492.4(CFTR):c.2658-12T>G
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
NM_000492.4(CFTR):c.2683A>G (p.Ser895Gly) rs1792256745
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr) rs201864483
NM_000492.4(CFTR):c.2692A>G (p.Ser898Gly)
NM_000492.4(CFTR):c.2705G>C (p.Ser902Thr) rs2116061306
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
NM_000492.4(CFTR):c.274-5T>A rs1454461758
NM_000492.4(CFTR):c.2750A>G (p.Tyr917Cys) rs397508428
NM_000492.4(CFTR):c.2752A>T (p.Ile918Phe) rs1267646551
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn) rs1033530699
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.2764G>A (p.Val922Ile) rs1792259336
NM_000492.4(CFTR):c.2770G>C (p.Asp924His) rs201759207
NM_000492.4(CFTR):c.2773A>G (p.Thr925Ala) rs1423162478
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser) rs757410423
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser) rs397508437
NM_000492.4(CFTR):c.280A>C (p.Thr94Pro) rs1434378124
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.284A>G (p.Lys95Arg)
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
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+3_2908+14del
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro) rs397508460
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.4(CFTR):c.2933A>G (p.Lys978Arg)
NM_000492.4(CFTR):c.2935G>T (p.Asp979Tyr)
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn) rs764644021
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala) rs1031657153
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu) rs1792306616
NM_000492.4(CFTR):c.2974T>C (p.Phe992Leu) rs1043006335
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
NM_000492.4(CFTR):c.2988+33G>T
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.4(CFTR):c.29G>C (p.Ser10Thr) rs762241850
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.313A>C (p.Ile105Leu) rs758675549
NM_000492.4(CFTR):c.316A>G (p.Ile106Val) rs1024092547
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
NM_000492.4(CFTR):c.322T>C (p.Ser108Pro)
NM_000492.4(CFTR):c.3368-3T>C rs2116096154
NM_000492.4(CFTR):c.3374G>A (p.Gly1125Glu)
NM_000492.4(CFTR):c.3385G>C (p.Val1129Leu) rs2116096247
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
NM_000492.4(CFTR):c.3418A>T (p.Met1140Leu)
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile) rs1554392775
NM_000492.4(CFTR):c.3449G>C (p.Ser1150Thr) rs1792458131
NM_000492.4(CFTR):c.3452T>A (p.Ile1151Lys) rs1584824269
NM_000492.4(CFTR):c.3469-3C>A
NM_000492.4(CFTR):c.3469-5T>C
NM_000492.4(CFTR):c.346G>C (p.Glu116Gln) rs397508571
NM_000492.4(CFTR):c.3471G>A (p.Met1157Ile)
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3494A>C (p.Lys1165Thr) rs753508195
NM_000492.4(CFTR):c.3498C>G (p.Phe1166Leu) rs1792670307
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn) rs2116129005
NM_000492.4(CFTR):c.3508C>T (p.Pro1170Ser) rs1792670534
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3514G>C (p.Glu1172Gln)
NM_000492.4(CFTR):c.3529A>G (p.Lys1177Glu) rs397508578
NM_000492.4(CFTR):c.3544T>C (p.Tyr1182His) rs770167300
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu) rs1036123285
NM_000492.4(CFTR):c.3574A>T (p.Ile1192Phe) rs1792672546
NM_000492.4(CFTR):c.3590A>G (p.His1197Arg) rs765133036
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.4(CFTR):c.359C>T (p.Ala120Val) rs1265244783
NM_000492.4(CFTR):c.361A>G (p.Ile121Val) rs574654063
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu) rs151264397
NM_000492.4(CFTR):c.3637A>C (p.Lys1213Gln)
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn) rs397508592
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.4(CFTR):c.3676A>G (p.Ile1226Val) rs2116129961
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro) rs1792676456
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3722G>A (p.Gly1241Asp)
NM_000492.4(CFTR):c.372C>T (p.Gly124=) rs1060503162
NM_000492.4(CFTR):c.3740G>A (p.Gly1247Glu)
NM_000492.4(CFTR):c.3749_3751dup (p.Lys1250dup) rs1584836961
NM_000492.4(CFTR):c.3752G>C (p.Ser1251Thr)
NM_000492.4(CFTR):c.3767C>G (p.Ala1256Gly) rs773852510
NM_000492.4(CFTR):c.3776G>C (p.Arg1259Thr) rs1470171438
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala) rs397508609
NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu) rs1554395370
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met) rs1800129
NM_000492.4(CFTR):c.3829A>G (p.Ile1277Val)
NM_000492.4(CFTR):c.3836T>C (p.Leu1279Ser) rs1286786026
NM_000492.4(CFTR):c.3842A>G (p.Gln1281Arg) rs752127256
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser) rs1792935893
NM_000492.4(CFTR):c.3853G>A (p.Ala1285Thr) rs868174013
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg) rs1792936385
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser) rs397508619
NM_000492.4(CFTR):c.388C>G (p.Leu130Val) rs397508632
NM_000492.4(CFTR):c.3904A>G (p.Lys1302Glu)
NM_000492.4(CFTR):c.3910T>G (p.Leu1304Val)
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr) rs1793109904
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu) rs397508649
NM_000492.4(CFTR):c.3963+5G>C
NM_000492.4(CFTR):c.3964-16T>G
NM_000492.4(CFTR):c.3964G>T (p.Val1322Phe)
NM_000492.4(CFTR):c.3965T>A (p.Val1322Asp)
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser) rs1793339514
NM_000492.4(CFTR):c.3980T>C (p.Val1327Ala)
NM_000492.4(CFTR):c.3980T>G (p.Val1327Gly)
NM_000492.4(CFTR):c.3989A>G (p.Gln1330Arg)
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile) rs1369611499
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val) rs397508659
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.4(CFTR):c.4018G>C (p.Val1340Leu) rs1554397492
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys) rs1584785049
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp) rs773458471
NM_000492.4(CFTR):c.4028G>C (p.Gly1343Ala)
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr) rs755993775
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg) rs755993775
NM_000492.4(CFTR):c.407T>C (p.Leu136Pro) rs1798854681
NM_000492.4(CFTR):c.4081C>G (p.Leu1361Val) rs772157232
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.40A>C (p.Lys14Gln)
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.4(CFTR):c.4135G>C (p.Val1379Leu)
NM_000492.4(CFTR):c.4136+5G>A rs1584849005
NM_000492.4(CFTR):c.4136+6T>A rs969884170
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.4(CFTR):c.4142A>T (p.Tyr1381Phe)
NM_000492.4(CFTR):c.4147A>G (p.Ile1383Val)
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro) rs397508688
NM_000492.4(CFTR):c.4178C>G (p.Ala1393Gly) rs2116222697
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
NM_000492.4(CFTR):c.419C>G (p.Pro140Arg)
NM_000492.4(CFTR):c.419C>T (p.Pro140Leu) rs397508694
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly) rs397508697
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
NM_000492.4(CFTR):c.4242+6T>C rs1562929200
NM_000492.4(CFTR):c.424A>G (p.Ile142Val) rs1562889369
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.44T>A (p.Leu15His)
NM_000492.4(CFTR):c.450G>A (p.Met150Ile)
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.4(CFTR):c.472A>G (p.Ser158Gly)
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn) rs2116674891
NM_000492.4(CFTR):c.508C>A (p.Arg170Ser) rs578029902
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.518A>T (p.Asp173Val)
NM_000492.4(CFTR):c.527G>T (p.Ser176Ile)
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
NM_000492.4(CFTR):c.53+3G>C rs1797978937
NM_000492.4(CFTR):c.574G>C (p.Asp192His)
NM_000492.4(CFTR):c.580-3C>T rs2116676312
NM_000492.4(CFTR):c.580G>C (p.Gly194Arg)
NM_000492.4(CFTR):c.587C>T (p.Ala196Val) rs1204822296
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro) rs193922529
NM_000492.4(CFTR):c.600C>A (p.Phe200Leu)
NM_000492.4(CFTR):c.609C>G (p.Ile203Met) rs1800081
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) rs397508769
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe) rs397508770
NM_000492.4(CFTR):c.640C>G (p.Leu214Val) rs188457893
NM_000492.4(CFTR):c.662C>A (p.Ala221Glu)
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp) rs769016520
NM_000492.4(CFTR):c.710A>C (p.Gln237Pro)
NM_000492.4(CFTR):c.711G>C (p.Gln237His) rs397508785
NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
NM_000492.4(CFTR):c.721G>T (p.Gly241Trp)
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.745G>T (p.Asp249Tyr)
NM_000492.4(CFTR):c.754G>A (p.Ala252Thr) rs748582435
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg) rs1343896905
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly) rs773790621
NM_000492.4(CFTR):c.770A>G (p.Glu257Gly)
NM_000492.4(CFTR):c.773G>A (p.Arg258Lys) rs377514639
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe) rs762640483
NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)
NM_000492.4(CFTR):c.851T>C (p.Met284Thr) rs2116678778
NM_000492.4(CFTR):c.860A>G (p.Asn287Ser)
NM_000492.4(CFTR):c.869A>T (p.Gln290Leu)
NM_000492.4(CFTR):c.870-1110T>C
NM_000492.4(CFTR):c.875A>G (p.Glu292Gly) rs1799023050
NM_000492.4(CFTR):c.878T>G (p.Leu293Arg)
NM_000492.4(CFTR):c.899C>G (p.Ala300Gly)
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.4(CFTR):c.932T>G (p.Phe311Cys) rs1584789230
NM_000492.4(CFTR):c.940G>T (p.Gly314Trp) rs397508819
NM_000492.4(CFTR):c.941G>C (p.Gly314Ala) rs75763344
NM_000492.4(CFTR):c.944T>G (p.Phe315Cys)
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe) rs56093012
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu) rs397508822

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