ClinVar Miner

List of variants studied for chronic obstructive pulmonary disease

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1183
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1176+14A>G rs5740 0.75623
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576 0.75229
NM_014883.4(FAM13A):c.843+16335C>A rs2609255 0.73777
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
NM_001038.6(SCNN1A):c.-93A>G rs10849447 0.66126
NM_001038.6(SCNN1A):c.1553+32G>A rs3764875 0.62475
NM_014883.4(FAM13A):c.605+25827G>A rs1903003 0.57350
NM_014883.4(FAM13A):c.606-24587G>A rs7671167 0.52969
NM_198253.3(TERT):c.1574-3777G>T rs2736100 0.52208
NC_000006.12:g.31815431A>C rs1008438 0.49671
NM_004415.4(DSP):c.726+219T>G rs2076295 0.45776
NC_000006.12:g.31826815C>T rs2763979 0.45422
NC_000004.12:g.144559628A>G rs1828591 0.42885
NC_000011.10:g.34788896T>C rs10836312 0.40543
NC_000011.10:g.34758731G>A rs906902 0.38807
NC_000004.12:g.144565237A>G rs13118928 0.32285
NM_003357.5(SCGB1A1):c.-26G>A rs3741240 0.31443
NC_000004.12:g.144539078A>G rs13147758 0.31076
NM_000336.3(SCNN1B):c.1152+43G>A rs2303157 0.23323
NM_001039.4(SCNN1G):c.1493+33T>G rs13306654 0.21983
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723 0.21902
NM_001039.4(SCNN1G):c.1494-49A>G rs11643517 0.21899
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653 0.21894
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844 0.17402
NM_005345.6(HSPA1A):c.330G>C (p.Glu110Asp) rs562047 0.15021
NM_019009.4(TOLLIP):c.184-1067G>C rs111521887 0.12301
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563 0.10382
NM_019009.4(TOLLIP):c.33+4867A>G rs5743890 0.09797
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_138554.5(TLR4):c.896A>G (p.Asp299Gly) rs4986790 0.06665
NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) rs4986791 0.04749
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980 0.03941
NM_001038.6(SCNN1A):c.-55+5G>C rs13306617 0.03104
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913 0.02955
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783 0.02274
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_001038.6(SCNN1A):c.*633G>T rs62618735 0.01803
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141 0.01509
NM_001038.5(SCNN1A):c.-155G>A rs72645137 0.01427
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619 0.00986
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788 0.00962
NM_001038.6(SCNN1A):c.*296C>T rs55981728 0.00844
NM_001038.6(SCNN1A):c.*914A>G rs62619209 0.00770
NM_001038.6(SCNN1A):c.*70T>C rs72657538 0.00731
NM_001038.6(SCNN1A):c.-48A>G rs150809388 0.00712
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_001038.6(SCNN1A):c.-28T>C rs61759919 0.00673
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_002133.3(HMOX1):c.378C>T (p.Pro126=) rs73885946 0.00399
NM_001038.6(SCNN1A):c.684+9C>T rs111317117 0.00378
NM_001039.4(SCNN1G):c.1570-9G>A rs72647540 0.00354
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001038.6(SCNN1A):c.*920C>T rs72657532 0.00349
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_001065.4(TNFRSF1A):c.-96C>T rs115164694 0.00312
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901 0.00290
NM_001038.5(SCNN1A):c.-186C>T rs72645139 0.00258
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923 0.00210
NM_002421.4(MMP1):c.248C>A (p.Thr83Asn) rs143788145 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.1210-15del rs371831442 0.00192
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356 0.00186
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_000492.4(CFTR):c.*482C>T rs147862180 0.00163
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916 0.00155
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) rs80027401 0.00141
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917 0.00123
NM_001038.6(SCNN1A):c.-55+2T>C rs772498945 0.00122
NM_001038.6(SCNN1A):c.*113C>T rs62620999 0.00121
NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln) rs72657556 0.00118
NM_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu) rs61729789 0.00101
NM_001038.6(SCNN1A):c.-54-14C>T rs61758858 0.00091
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973 0.00083
NM_001038.6(SCNN1A):c.*467C>A rs140681881 0.00081
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888 0.00078
NM_000492.4(CFTR):c.1210-11_1210-10insG rs551227135 0.00072
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00069
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058 0.00051
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000336.3(SCNN1B):c.*241G>A rs529644900 0.00040
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000336.3(SCNN1B):c.*278C>T rs549628659 0.00038
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=) rs138995556 0.00036
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) rs139335335 0.00036
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000336.3(SCNN1B):c.657C>T (p.Tyr219=) rs746821073 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_001038.6(SCNN1A):c.876-13C>T rs201235216 0.00033
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu) rs147211854 0.00031
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg) rs138004955 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495 0.00024
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln) rs113234492 0.00024
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814 0.00023
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_000336.2(SCNN1B):c.-150C>G rs530631658 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873 0.00022
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550 0.00022
NM_001065.4(TNFRSF1A):c.-233C>T rs45537340 0.00022
NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met) rs149667567 0.00021
NM_001038.6(SCNN1A):c.*352A>G rs72657536 0.00021
NM_001038.6(SCNN1A):c.*727A>G rs549856051 0.00020
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp) rs113622727 0.00020
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435 0.00020
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156 0.00019
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=) rs149172890 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) rs145900055 0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) rs150691494 0.00019
NM_001038.5(SCNN1A):c.-156C>T rs72645138 0.00019
NM_001038.6(SCNN1A):c.*509T>G rs150966071 0.00019
NM_001038.6(SCNN1A):c.-59G>C rs72645135 0.00019
NM_001038.6(SCNN1A):c.1497+6G>C rs144275086 0.00019
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu) rs148959452 0.00019
NM_000336.3(SCNN1B):c.*94G>A rs72654359 0.00018
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln) rs13306627 0.00018
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) rs61759861 0.00018
NM_000583.4(GC):c.1333C>T (p.His445Tyr) rs3737553 0.00017
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln) rs149868979 0.00016
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His) rs140945152 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) rs201873521 0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr) rs137852711 0.00014
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile) rs147926991 0.00014
NM_001038.6(SCNN1A):c.*4G>A rs557017986 0.00014
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln) rs397508395 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001038.6(SCNN1A):c.*542G>A rs920293100 0.00012
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr) rs201369319 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
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.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=) rs149430403 0.00011
NM_000336.3(SCNN1B):c.*20G>A rs755277136 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=) rs570566104 0.00010
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819 0.00010
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys) rs146177203 0.00010
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) rs373718332 0.00009
NM_000336.3(SCNN1B):c.586-15T>C rs371098444 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val) rs374403559 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) rs397508814 0.00009
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152 0.00009
NM_001039.4(SCNN1G):c.699C>T (p.His233=) rs192839222 0.00009
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) rs765336896 0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 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_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995 0.00008
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) rs200966246 0.00007
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278 0.00007
NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys) rs140609339 0.00007
NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe) rs369382063 0.00007
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) rs13306633 0.00006
NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr) rs770635298 0.00006
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) rs199810483 0.00006
NM_000336.3(SCNN1B):c.6C>T (p.His2=) rs564570566 0.00006
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=) rs374264520 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys) rs377731410 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738 0.00006
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636 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.489+87A>G rs969399514 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 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_001038.6(SCNN1A):c.*114G>A rs886049756 0.00006
NM_001038.6(SCNN1A):c.*468C>T rs1336335704 0.00006
NM_001038.6(SCNN1A):c.-69C>T rs545108113 0.00006
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr) rs141756749 0.00006
NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln) rs181420353 0.00006
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551 0.00006
NM_002133.3(HMOX1):c.287G>A (p.Trp96Ter) rs137932222 0.00006
NM_000336.3(SCNN1B):c.91G>A (p.Asp31Asn) rs370777535 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 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_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066 0.00005
NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln) rs763359949 0.00005
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652 0.00004
NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met) rs745885983 0.00004
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=) rs778937866 0.00004
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00004
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn) rs13306629 0.00004
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) rs757137077 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln) rs141880790 0.00004
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile) rs397508397 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) rs200885306 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_001038.6(SCNN1A):c.*69A>G rs1230500939 0.00004
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln) rs775290860 0.00004
NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val) rs751903373 0.00004
NM_006901.4(MYO9A):c.2344C>A (p.Gln782Lys) rs539244075 0.00004
NM_000336.3(SCNN1B):c.1404+7C>T rs1485041245 0.00003
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) rs201279350 0.00003
NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser) rs72654338 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser) rs397508185 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter) rs397508211 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys) rs773018372 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) rs145449046 0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 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.365A>G (p.Tyr122Cys) rs377295859 0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile) rs769931559 0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286 0.00003
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter) rs397508777 0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) rs775713428 0.00003
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758 0.00003
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339 0.00003
NM_001039.4(SCNN1G):c.564C>A (p.His188Gln) rs899371749 0.00003
NM_001065.4(TNFRSF1A):c.-74G>A rs200084924 0.00003
NM_000336.3(SCNN1B):c.*187G>A rs886051816 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) rs370586917 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) rs374453187 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 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.4031G>C (p.Cys1344Ser) rs368427311 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter) rs79031340 0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) rs193922533 0.00002
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) rs886049757 0.00002
NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg) rs755287192 0.00002
NM_001038.6(SCNN1A):c.2T>C (p.Met1Thr) rs779394345 0.00002
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378 0.00002
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe) rs775335440 0.00002
NM_001039.4(SCNN1G):c.1400G>A (p.Ser467Asn) rs925384893 0.00002
NM_033656.4(BRWD1):c.523C>T (p.His175Tyr) rs1472467905 0.00002
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706 0.00001
NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser) rs768729700 0.00001
NM_000336.3(SCNN1B):c.1313A>G (p.Glu438Gly) rs749772908 0.00001
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556 0.00001
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) rs749106839 0.00001
NM_000336.3(SCNN1B):c.1615G>A (p.Glu539Lys) rs137852710 0.00001
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_000336.3(SCNN1B):c.1838C>T (p.Pro613Leu) rs1391471777 0.00001
NM_000336.3(SCNN1B):c.561C>T (p.His187=) rs773448523 0.00001
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs) rs747116196 0.00001
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291 0.00001
NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser) rs137852712 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1081del (p.Trp361fs) rs387906361 0.00001
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) rs766063304 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) rs754152822 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr) rs397508220 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr) rs144745159 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) rs193922504 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn) rs121909006 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr) rs201978662 0.00001
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val) rs745538406 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln) rs397508342 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.234dup (p.Trp79fs) rs1189377616 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) rs397508378 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter) rs397508393 0.00001
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val) rs1472821278 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr) rs780528577 0.00001
NM_000492.4(CFTR):c.2810dup (p.Val938fs) rs193922510 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile) rs140883683 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765 0.00001
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666 0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) rs121908811 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3744del (p.Lys1250fs) rs121908784 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.416A>C (p.His139Pro) rs76371115 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 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.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.580-2A>G rs193922730 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.70T>G (p.Leu24Val) rs1056986309 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter) rs397508808 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr) rs148013312 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_001038.6(SCNN1A):c.*180T>C rs1045767188 0.00001
NM_001038.6(SCNN1A):c.*590C>G rs886049753 0.00001
NM_001038.6(SCNN1A):c.*666T>C rs891843136 0.00001
NM_001038.6(SCNN1A):c.*736T>G rs886049752 0.00001
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) rs181065138 0.00001
NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs) rs756434927 0.00001
NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys) rs1565475355 0.00001
NM_001038.6(SCNN1A):c.417-15C>T rs1366336758 0.00001
NM_001038.6(SCNN1A):c.574del (p.Arg192fs) rs767638989 0.00001
NM_001038.6(SCNN1A):c.648G>A (p.Gln216=) rs780536807 0.00001
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) rs866913999 0.00001
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475 0.00001
NM_001038.6(SCNN1A):c.875+1G>A rs142439390 0.00001
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) rs886049759 0.00001
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) rs202142122 0.00001
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=) rs1270059843 0.00001
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) rs763601481 0.00001
NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys) rs1001641230 0.00001
NM_002317.7(LOX):c.760G>A (p.Val254Ile) rs575190694 0.00001
NM_004651.3(USP11):c.1599G>A (p.Thr533=) rs777516785 0.00001
NM_006901.4(MYO9A):c.6656G>A (p.Arg2219His) rs780540584 0.00001
NC_000004.12:g.88448181T>C rs942316220
NC_000012.12:g.47906043T>C
NM_000336.3(SCNN1B):c.*446C>A rs1452320359
NM_000336.3(SCNN1B):c.1006G>A (p.Ala336Thr)
NM_000336.3(SCNN1B):c.1039C>T (p.Leu347Phe)
NM_000336.3(SCNN1B):c.1041C>T (p.Leu347=)
NM_000336.3(SCNN1B):c.1042G>A (p.Val348Met)
NM_000336.3(SCNN1B):c.1044+4T>G
NM_000336.3(SCNN1B):c.1049A>G (p.Lys350Arg)
NM_000336.3(SCNN1B):c.1049A>T (p.Lys350Met)
NM_000336.3(SCNN1B):c.1054C>T (p.Gln352Ter)
NM_000336.3(SCNN1B):c.1066G>A (p.Glu356Lys)
NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr) rs932297365
NM_000336.3(SCNN1B):c.1074C>G (p.Tyr358Ter)
NM_000336.3(SCNN1B):c.1115A>T (p.Asn372Ile) rs1555489480
NM_000336.3(SCNN1B):c.1189C>T (p.Arg397Cys)
NM_000336.3(SCNN1B):c.118C>T (p.Arg40Cys)
NM_000336.3(SCNN1B):c.1212C>A (p.Tyr404Ter)
NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys) rs200401219
NM_000336.3(SCNN1B):c.1228del (p.Arg410fs)
NM_000336.3(SCNN1B):c.1243T>C (p.Cys415Arg)
NM_000336.3(SCNN1B):c.1270+11G>T rs369905217
NM_000336.3(SCNN1B):c.1270+6C>T
NM_000336.3(SCNN1B):c.1271-10T>C rs886051814
NM_000336.3(SCNN1B):c.1286A>G (p.Asp429Gly)
NM_000336.3(SCNN1B):c.1299C>A (p.Ser433Arg)
NM_000336.3(SCNN1B):c.12G>T (p.Lys4Asn)
NM_000336.3(SCNN1B):c.1304C>T (p.Ala435Val)
NM_000336.3(SCNN1B):c.1310G>A (p.Arg437Lys)
NM_000336.3(SCNN1B):c.1312_1315del (p.Glu438fs)
NM_000336.3(SCNN1B):c.1314_1315del (p.Glu438fs)
NM_000336.3(SCNN1B):c.1328T>C (p.Met443Thr)
NM_000336.3(SCNN1B):c.1329G>A (p.Met443Ile)
NM_000336.3(SCNN1B):c.1335G>C (p.Lys445Asn)
NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys) rs1962919047
NM_000336.3(SCNN1B):c.1346+16C>T
NM_000336.3(SCNN1B):c.1367C>T (p.Thr456Ile)
NM_000336.3(SCNN1B):c.1369A>G (p.Ile457Val)
NM_000336.3(SCNN1B):c.1404+15G>A rs886051815
NM_000336.3(SCNN1B):c.1436G>A (p.Arg479Gln)
NM_000336.3(SCNN1B):c.1466+18C>T
NM_000336.3(SCNN1B):c.1475T>A (p.Ile492Asn)
NM_000336.3(SCNN1B):c.1475T>C (p.Ile492Thr)
NM_000336.3(SCNN1B):c.1492T>G (p.Tyr498Asp)
NM_000336.3(SCNN1B):c.14A>G (p.Lys5Arg)
NM_000336.3(SCNN1B):c.1501G>A (p.Glu501Lys)
NM_000336.3(SCNN1B):c.153G>A (p.Met51Ile)
NM_000336.3(SCNN1B):c.1543-2A>G rs1596894031
NM_000336.3(SCNN1B):c.1543-6C>T
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=) rs146440372
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=) rs146440372
NM_000336.3(SCNN1B):c.1566G>C (p.Leu522=)
NM_000336.3(SCNN1B):c.1614C>A (p.Ile538=)
NM_000336.3(SCNN1B):c.1642G>A (p.Val548Met)
NM_000336.3(SCNN1B):c.1687C>T (p.Arg563Trp)
NM_000336.3(SCNN1B):c.1703A>C (p.Gln568Pro)
NM_000336.3(SCNN1B):c.1714G>T (p.Ala572Ser)
NM_000336.3(SCNN1B):c.1736C>G (p.Ala579Gly)
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu) rs1963026711
NM_000336.3(SCNN1B):c.1750G>A (p.Ala584Thr)
NM_000336.3(SCNN1B):c.1774C>T (p.Pro592Ser)
NM_000336.3(SCNN1B):c.1784C>T (p.Ala595Val)
NM_000336.3(SCNN1B):c.178G>A (p.Ala60Thr)
NM_000336.3(SCNN1B):c.1795C>T (p.Pro599Ser)
NM_000336.3(SCNN1B):c.1817G>C (p.Ser606Thr)
NM_000336.3(SCNN1B):c.1817G>T (p.Ser606Ile)
NM_000336.3(SCNN1B):c.1819G>A (p.Glu607Lys)
NM_000336.3(SCNN1B):c.1822C>A (p.Gln608Lys)
NM_000336.3(SCNN1B):c.1826C>T (p.Ala609Val)
NM_000336.3(SCNN1B):c.1831C>G (p.Pro611Ala)
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) rs387906402
NM_000336.3(SCNN1B):c.1847dup (p.Pro617fs)
NM_000336.3(SCNN1B):c.1849C>A (p.Pro617Thr)
NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser) rs137852708
NM_000336.3(SCNN1B):c.1852C>T (p.Pro618Ser) rs536187488
NM_000336.3(SCNN1B):c.1870C>T (p.Arg624Cys)
NM_000336.3(SCNN1B):c.1871G>A (p.Arg624His)
NM_000336.3(SCNN1B):c.1880C>T (p.Pro627Leu)
NM_000336.3(SCNN1B):c.1910G>T (p.Gly637Val)
NM_000336.3(SCNN1B):c.232G>A (p.Glu78Lys)
NM_000336.3(SCNN1B):c.240C>T (p.Ser80=)
NM_000336.3(SCNN1B):c.268A>G (p.Met90Val)
NM_000336.3(SCNN1B):c.283G>A (p.Val95Ile)
NM_000336.3(SCNN1B):c.361G>A (p.Ala121Thr)
NM_000336.3(SCNN1B):c.372G>T (p.Glu124Asp)
NM_000336.3(SCNN1B):c.394A>G (p.Ser132Gly)
NM_000336.3(SCNN1B):c.445C>G (p.Pro149Ala)
NM_000336.3(SCNN1B):c.448C>G (p.Leu150Val)
NM_000336.3(SCNN1B):c.451G>C (p.Val151Leu)
NM_000336.3(SCNN1B):c.486G>T (p.Met162Ile)
NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn) rs748962184
NM_000336.3(SCNN1B):c.554A>T (p.Asn185Ile)
NM_000336.3(SCNN1B):c.556G>C (p.Ala186Pro)
NM_000336.3(SCNN1B):c.562G>A (p.Gly188Arg)
NM_000336.3(SCNN1B):c.586-6C>A
NM_000336.3(SCNN1B):c.589A>G (p.Ser197Gly)
NM_000336.3(SCNN1B):c.625A>C (p.Thr209Pro)
NM_000336.3(SCNN1B):c.653G>A (p.Trp218Ter)
NM_000336.3(SCNN1B):c.705A>G (p.Leu235=)
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val) rs1962399992
NM_000336.3(SCNN1B):c.76C>A (p.Leu26Met)
NM_000336.3(SCNN1B):c.775C>T (p.Arg259Trp)
NM_000336.3(SCNN1B):c.776+9C>A rs1962401157
NM_000336.3(SCNN1B):c.7G>A (p.Val3Met)
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) rs137852709
NM_000336.3(SCNN1B):c.815G>A (p.Cys272Tyr)
NM_000336.3(SCNN1B):c.857C>T (p.Ser286Leu)
NM_000336.3(SCNN1B):c.866C>G (p.Pro289Arg)
NM_000336.3(SCNN1B):c.88T>C (p.Cys30Arg)
NM_000336.3(SCNN1B):c.932C>T (p.Ala311Val)
NM_000336.3(SCNN1B):c.935C>T (p.Ser312Phe)
NM_000336.3(SCNN1B):c.943G>A (p.Gly315Arg)
NM_000336.3(SCNN1B):c.964G>T (p.Glu322Ter)
NM_000336.3(SCNN1B):c.998G>A (p.Gly333Asp)
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.4(CFTR):c.*133del rs145697705
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.4(CFTR):c.1067G>A (p.Trp356Ter)
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter) rs397508150
NM_000492.4(CFTR):c.1069G>A (p.Ala357Thr)
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) rs397508152
NM_000492.4(CFTR):c.1083del (p.Trp361fs) rs387906375
NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs) rs387906365
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1116+2T>C
NM_000492.4(CFTR):c.1130dup (p.Gln378fs) rs397508163
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr) rs1396443734
NM_000492.4(CFTR):c.1190dup (p.Thr398fs)
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000492.4(CFTR):c.1210-3C>G
NM_000492.4(CFTR):c.1210-6T>A rs763339686
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1261dup (p.Thr421fs) rs2115903081
NM_000492.4(CFTR):c.1313del (p.Thr438fs)
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1334del (p.Asn445fs) rs2115903565
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1351G>T (p.Gly451Ter)
NM_000492.4(CFTR):c.1352G>T (p.Gly451Val) rs1554382653
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe) rs397508195
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.4(CFTR):c.1423del (p.Leu475fs)
NM_000492.4(CFTR):c.1439G>A (p.Gly480Asp) rs397508208
NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs) rs2115937855
NM_000492.4(CFTR):c.1468_1471del (p.Phe490fs)
NM_000492.4(CFTR):c.1469del (p.Phe490fs) rs775663783
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.4(CFTR):c.1509_1510delinsT (p.Lys503fs)
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.4(CFTR):c.1561A>T (p.Ile521Phe)
NM_000492.4(CFTR):c.1584+2T>C rs397508231
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1609G>A (p.Asp537Asn)
NM_000492.4(CFTR):c.1616_1617insTT (p.Ile539_Val540insTer)
NM_000492.4(CFTR):c.164+1G>A rs397508243
NM_000492.4(CFTR):c.164+1G>C rs397508243
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1650del (p.Gly551fs) rs397508251
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.168del (p.Glu56fs) rs397508269
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp) rs1375786834
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.4(CFTR):c.175dup (p.Arg59fs) rs397508294
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys) rs77284892
NM_000492.4(CFTR):c.1796del (p.Thr599fs)
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1884del (p.Thr629fs)
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs) rs121908779
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.4(CFTR):c.1972dup (p.Arg658fs)
NM_000492.4(CFTR):c.1973_1985delinsAGAAA rs121908780
NM_000492.4(CFTR):c.198del (p.Pro67fs)
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) rs1177201180
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.2041G>T (p.Glu681Ter)
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter) rs1584812425
NM_000492.4(CFTR):c.2083dup (p.Glu695fs) rs397508339
NM_000492.4(CFTR):c.2089dup (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter) rs397508346
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.233del (p.Phe78fs) rs397508360
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2360_2361del (p.Thr787fs)
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.2381_2450del (p.Val794fs)
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter) rs397508377
NM_000492.4(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.4(CFTR):c.2467G>T (p.Glu823Ter) rs397508379
NM_000492.4(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.4(CFTR):c.2489dup (p.Glu831fs)
NM_000492.4(CFTR):c.2490+1G>A rs141158996
NM_000492.4(CFTR):c.2490+1G>C
NM_000492.4(CFTR):c.2490+1G>T rs141158996
NM_000492.4(CFTR):c.2491-2A>G rs397508386
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.2573del (p.Ser858fs) rs1562908997
NM_000492.4(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.4(CFTR):c.25dup (p.Ala9fs) rs1584764596
NM_000492.4(CFTR):c.2601dup (p.Val868fs) rs397508405
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter) rs397508413
NM_000492.4(CFTR):c.2658-2A>G rs1554390958
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr) rs201864483
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg) rs121908750
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.273+3A>G
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.274-2A>G rs397508426
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.2755del (p.Tyr919fs)
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs) rs397508431
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.2819_2823del (p.Thr940fs)
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2825del (p.Ile942fs) rs397508441
NM_000492.4(CFTR):c.2828del (p.Thr943fs)
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2896del (p.Thr966fs) rs397508451
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2908+1G>T
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val) rs1554391473
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu) rs758250836
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.2982_2988+2del rs1554391489
NM_000492.4(CFTR):c.2988+1G>T rs75096551
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.2989-2A>T rs193922515
NM_000492.4(CFTR):c.2989-3C>G rs397508471
NM_000492.4(CFTR):c.2993del (p.Leu998fs) rs1057516415
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu) rs1554392023
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg) rs756219310
NM_000492.4(CFTR):c.3078del (p.Phe1026fs)
NM_000492.4(CFTR):c.308del (p.Gly103fs)
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.310del (p.Arg104fs) rs397508499
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr) rs1584821736
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys) rs397508504
NM_000492.4(CFTR):c.3140-16T>A
NM_000492.4(CFTR):c.3140-1G>A rs397508506
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn) rs397508509
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) rs397508510
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3223G>T (p.Glu1075Ter)
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs) rs779177972
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser) rs373043500
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs) rs121908798
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter) rs397508532
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile) rs777445862
NM_000492.4(CFTR):c.3330del (p.Phe1111fs)
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys) rs146521846
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.4(CFTR):c.3373G>T (p.Gly1125Ter)
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
NM_000492.4(CFTR):c.3444del (p.Ser1149fs)
NM_000492.4(CFTR):c.3469-1304C>G
NM_000492.4(CFTR):c.3469-2A>G rs397508570
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3492del (p.Phe1164fs)
NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter) rs387906379
NM_000492.4(CFTR):c.3495del (p.Lys1165fs) rs1057516970
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3536C>T (p.Thr1179Ile)
NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer) rs1792671655
NM_000492.4(CFTR):c.3605del (p.Asp1202fs) rs397508587
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)
NM_000492.4(CFTR):c.3672dup (p.Ala1225fs)
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-1G>C
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT rs397515289
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs) rs2116166806
NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)
NM_000492.4(CFTR):c.3745_3750delinsC (p.Gly1249fs)
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter) rs397508604
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter) rs1584837090
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser) rs397508619
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter) rs397508620
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) rs387906373
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3904A>T (p.Lys1302Ter)
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter)
NM_000492.4(CFTR):c.3932_3933delinsAATATG (p.Ser1311fs)
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr) rs1793109904
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.4(CFTR):c.3963+1G>A rs672601314
NM_000492.4(CFTR):c.3964-3C>G rs397508652
NM_000492.4(CFTR):c.3972del (p.Arg1325fs) rs1584848754
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter) rs375661578
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.3988del (p.Gln1330fs)
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.40A>T (p.Lys14Ter) rs397508673
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4139del (p.Thr1380fs) rs397508680
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.416A>G (p.His139Arg) rs76371115
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer) rs397508695
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter) rs397508702
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)
NM_000492.4(CFTR):c.4262_4263del (p.Val1421fs)
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter) rs750559671
NM_000492.4(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer) rs1554397772
NM_000492.4(CFTR):c.4340del (p.Val1447fs) rs2116226496
NM_000492.4(CFTR):c.434T>A (p.Leu145His) rs397508712
NM_000492.4(CFTR):c.43del (p.Leu15fs) rs397508715
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg) rs397508718
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.482del (p.Tyr161fs)
NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs) rs1584785196
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.490-1G>C
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.498del (p.Lys166fs)
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.508del (p.Arg170fs)
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.53+1G>C
NM_000492.4(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.54-1G>A
NM_000492.4(CFTR):c.544dup (p.Ser182fs) rs1584786454
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.580-2A>C rs193922730
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.601del (p.Val201fs) rs397508767
NM_000492.4(CFTR):c.614C>T (p.Pro205Leu)
NM_000492.4(CFTR):c.618dup (p.Gln207fs)
NM_000492.4(CFTR):c.648G>A (p.Trp216Ter)
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.686_689del (p.Gly228_Phe229insTer)
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer) rs1554380497
NM_000492.4(CFTR):c.743+1G>A rs397508791
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.4(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.4(CFTR):c.808C>T (p.Gln270Ter) rs1584787716
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.850del (p.Lys283_Met284insTer)
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter) rs1057516619
NM_000492.4(CFTR):c.869+1G>A rs1330431481
NM_000492.4(CFTR):c.869+1G>C rs1330431481
NM_000492.4(CFTR):c.869+1_869+3del
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu) rs121909016
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.987del (p.Gly330fs) rs397508824
NM_000492.4(CFTR):c.989dup (p.Ile331fs)
NM_000492.4(CFTR):c.9del (p.Arg3fs)
NM_000583.4(GC):c.1322_1323insTG (p.Val442fs)
NM_000583.4(GC):c.1324dup (p.Val442fs)
NM_000583.4(GC):c.1327_1328insT (p.Asn443fs)
NM_000583.4(GC):c.1328del (p.Asn443fs)
NM_000583.4(GC):c.1330A>T (p.Lys444Ter)
NM_000583.4(GC):c.1349C>G (p.Ser450Cys)
NM_000583.4(GC):c.1364T>C (p.Ile455Thr)
NM_000583.4(GC):c.1366A>T (p.Asn456Tyr)
NM_000583.4(GC):c.1368C>A (p.Asn456Lys)
NM_000583.4(GC):c.1375_1376insG (p.Pro459fs)
NM_000750.5(CHRNB4):c.1411G>C (p.Val471Leu)
NM_001013619.4(HYKK):c.337+256T>C
NM_001038.6(SCNN1A):c.*1012TGTT[1] rs796798913
NM_001038.6(SCNN1A):c.*1020G>T rs1565473402
NM_001038.6(SCNN1A):c.*386G>A rs1948277951
NM_001038.6(SCNN1A):c.*415C>T rs886049755
NM_001038.6(SCNN1A):c.*580A>C rs886049754
NM_001038.6(SCNN1A):c.-54-13G>A rs573341191
NM_001038.6(SCNN1A):c.-55+1G>A
NM_001038.6(SCNN1A):c.100G>A (p.Glu34Lys)
NM_001038.6(SCNN1A):c.1017C>A (p.Phe339Leu)
NM_001038.6(SCNN1A):c.1035A>G (p.Thr345=)
NM_001038.6(SCNN1A):c.1048C>T (p.Arg350Trp)
NM_001038.6(SCNN1A):c.1056G>C (p.Met352Ile)
NM_001038.6(SCNN1A):c.1059G>A (p.Val353=)
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.1075C>A (p.Pro359Thr)
NM_001038.6(SCNN1A):c.1075C>T (p.Pro359Ser)
NM_001038.6(SCNN1A):c.1107G>C (p.Leu369Phe)
NM_001038.6(SCNN1A):c.1109G>A (p.Arg370Gln)
NM_001038.6(SCNN1A):c.1116C>T (p.Gly372=)
NM_001038.6(SCNN1A):c.1117G>A (p.Val373Met)
NM_001038.6(SCNN1A):c.1132A>G (p.Ser378Gly)
NM_001038.6(SCNN1A):c.1144-14A>G
NM_001038.6(SCNN1A):c.1168G>A (p.Asp390Asn)
NM_001038.6(SCNN1A):c.1169A>T (p.Asp390Val)
NM_001038.6(SCNN1A):c.1198G>C (p.Asp400His)
NM_001038.6(SCNN1A):c.122C>T (p.Pro41Leu)
NM_001038.6(SCNN1A):c.1246_1281dup (p.Lys427_Glu428insCysIleHisSerCysPheGlnGluSerMetIleLys)
NM_001038.6(SCNN1A):c.124A>G (p.Thr42Ala)
NM_001038.6(SCNN1A):c.1256C>T (p.Ser419Phe)
NM_001038.6(SCNN1A):c.125C>T (p.Thr42Met)
NM_001038.6(SCNN1A):c.128C>T (p.Ala43Val)
NM_001038.6(SCNN1A):c.12C>A (p.Asn4Lys)
NM_001038.6(SCNN1A):c.1305C>G (p.Phe435Leu)
NM_001038.6(SCNN1A):c.1310C>T (p.Pro437Leu)
NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln)
NM_001038.6(SCNN1A):c.1345A>C (p.Lys449Gln)
NM_001038.6(SCNN1A):c.1361-3C>G
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) rs72657557
NM_001038.6(SCNN1A):c.1361G>T (p.Gly454Val)
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519
NM_001038.6(SCNN1A):c.1440C>T (p.Ser480=)
NM_001038.6(SCNN1A):c.1441G>A (p.Val481Met)
NM_001038.6(SCNN1A):c.1474C>T (p.Arg492Ter)
NM_001038.6(SCNN1A):c.1475G>T (p.Arg492Leu)
NM_001038.6(SCNN1A):c.1477T>G (p.Trp493Gly)
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=) rs200770604
NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=) rs1948324086
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) rs137852634
NM_001038.6(SCNN1A):c.1553+13C>T
NM_001038.6(SCNN1A):c.158G>A (p.Arg53His)
NM_001038.6(SCNN1A):c.1590G>C (p.Glu530Asp)
NM_001038.6(SCNN1A):c.1601A>G (p.Lys534Arg)
NM_001038.6(SCNN1A):c.1622C>T (p.Ser541Phe)
NM_001038.6(SCNN1A):c.1628C>T (p.Thr543Met)
NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=)
NM_001038.6(SCNN1A):c.1657A>G (p.Ser553Gly)
NM_001038.6(SCNN1A):c.1693T>A (p.Ser565Thr)
NM_001038.6(SCNN1A):c.1706T>C (p.Met569Thr)
NM_001038.6(SCNN1A):c.1707G>A (p.Met569Ile)
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile) rs59142484
NM_001038.6(SCNN1A):c.172_180del (p.Leu58_Glu60del)
NM_001038.6(SCNN1A):c.1735A>G (p.Ile579Val)
NM_001038.6(SCNN1A):c.1736T>C (p.Ile579Thr)
NM_001038.6(SCNN1A):c.1772G>A (p.Arg591Gln)
NM_001038.6(SCNN1A):c.1789C>T (p.Arg597Ter) rs771246219
NM_001038.6(SCNN1A):c.1790G>A (p.Arg597Gln)
NM_001038.6(SCNN1A):c.1841del (p.Pro614fs)
NM_001038.6(SCNN1A):c.1856C>A (p.Pro619His)
NM_001038.6(SCNN1A):c.1924C>G (p.Pro642Ala)
NM_001038.6(SCNN1A):c.1946C>T (p.Pro649Leu)
NM_001038.6(SCNN1A):c.1955C>G (p.Ser652Cys)
NM_001038.6(SCNN1A):c.1960G>A (p.Gly654Arg)
NM_001038.6(SCNN1A):c.1970C>T (p.Ala657Val)
NM_001038.6(SCNN1A):c.1987_1988inv (p.Thr663Val)
NM_001038.6(SCNN1A):c.2000G>A (p.Gly667Glu)
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=) rs539360032
NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys) rs61759860
NM_001038.6(SCNN1A):c.251C>T (p.Thr84Met)
NM_001038.6(SCNN1A):c.265G>C (p.Val89Leu)
NM_001038.6(SCNN1A):c.26A>G (p.Gln9Arg)
NM_001038.6(SCNN1A):c.319G>C (p.Gly107Arg)
NM_001038.6(SCNN1A):c.339C>G (p.Pro113=)
NM_001038.6(SCNN1A):c.387A>G (p.Ala129=)
NM_001038.6(SCNN1A):c.418T>G (p.Tyr140Asp)
NM_001038.6(SCNN1A):c.429T>G (p.Ile143Met)
NM_001038.6(SCNN1A):c.454C>T (p.Arg152Cys)
NM_001038.6(SCNN1A):c.455G>A (p.Arg152His)
NM_001038.6(SCNN1A):c.470C>G (p.Thr157Arg)
NM_001038.6(SCNN1A):c.488A>C (p.Lys163Thr)
NM_001038.6(SCNN1A):c.489A>C (p.Lys163Asn)
NM_001038.6(SCNN1A):c.490T>C (p.Tyr164His)
NM_001038.6(SCNN1A):c.497C>A (p.Ser166Tyr)
NM_001038.6(SCNN1A):c.499T>C (p.Phe167Leu)
NM_001038.6(SCNN1A):c.505_506del (p.Thr169fs)
NM_001038.6(SCNN1A):c.511G>A (p.Val171Met)
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001038.6(SCNN1A):c.559C>G (p.Pro187Ala)
NM_001038.6(SCNN1A):c.564G>C (p.Leu188Phe)
NM_001038.6(SCNN1A):c.567_568delinsTT (p.Gln189_Arg190delinsHisCys)
NM_001038.6(SCNN1A):c.569G>T (p.Arg190Leu)
NM_001038.6(SCNN1A):c.575G>A (p.Arg192Lys)
NM_001038.6(SCNN1A):c.604C>G (p.Arg202Gly)
NM_001038.6(SCNN1A):c.615C>A (p.Ser205Arg)
NM_001038.6(SCNN1A):c.629T>G (p.Leu210Trp)
NM_001038.6(SCNN1A):c.641A>C (p.Asn214Thr)
NM_001038.6(SCNN1A):c.649G>A (p.Val217Met)
NM_001038.6(SCNN1A):c.654C>A (p.Asp218Glu)
NM_001038.6(SCNN1A):c.658A>G (p.Lys220Glu)
NM_001038.6(SCNN1A):c.678C>A (p.Phe226Leu)
NM_001038.6(SCNN1A):c.684+9_684+10insCCCCA
NM_001038.6(SCNN1A):c.685-1G>A
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) rs1565488675
NM_001038.6(SCNN1A):c.710T>C (p.Phe237Ser)
NM_001038.6(SCNN1A):c.733G>C (p.Val245Leu)
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) rs768767909
NM_001038.6(SCNN1A):c.758G>A (p.Arg253His)
NM_001038.6(SCNN1A):c.763C>T (p.His255Tyr)
NM_001038.6(SCNN1A):c.767A>G (p.Tyr256Cys)
NM_001038.6(SCNN1A):c.77G>A (p.Arg26His)
NM_001038.6(SCNN1A):c.875C>A (p.Ala292Glu)
NM_001038.6(SCNN1A):c.875C>T (p.Ala292Val)
NM_001038.6(SCNN1A):c.899C>T (p.Pro300Leu)
NM_001038.6(SCNN1A):c.940T>A (p.Ser314Thr)
NM_001038.6(SCNN1A):c.942del (p.Asn315fs) rs1555112332
NM_001038.6(SCNN1A):c.979+1G>A
NM_001038.6(SCNN1A):c.979G>T (p.Gly327Cys)
NM_001038.6(SCNN1A):c.980-15_980-14delinsAA
NM_001039.4(SCNN1G):c.-4C>T
NM_001039.4(SCNN1G):c.1072C>T (p.His358Tyr)
NM_001039.4(SCNN1G):c.1078-3C>T
NM_001039.4(SCNN1G):c.1082A>T (p.Glu361Val)
NM_001039.4(SCNN1G):c.1093C>A (p.Leu365Met)
NM_001039.4(SCNN1G):c.1118C>T (p.Thr373Met)
NM_001039.4(SCNN1G):c.1126G>A (p.Gly376Arg)
NM_001039.4(SCNN1G):c.1131T>G (p.Ser377Arg)
NM_001039.4(SCNN1G):c.1135G>A (p.Val379Met)
NM_001039.4(SCNN1G):c.1151T>C (p.Ile384Thr)
NM_001039.4(SCNN1G):c.1154A>G (p.Tyr385Cys)
NM_001039.4(SCNN1G):c.1191A>T (p.Ser397=)
NM_001039.4(SCNN1G):c.1204A>C (p.Lys402Gln)
NM_001039.4(SCNN1G):c.1229C>T (p.Ala410Val)
NM_001039.4(SCNN1G):c.1281G>T (p.Gln427His)
NM_001039.4(SCNN1G):c.1284C>T (p.His428=) rs749657510
NM_001039.4(SCNN1G):c.1313T>A (p.Leu438Gln)
NM_001039.4(SCNN1G):c.1336G>A (p.Glu446Lys)
NM_001039.4(SCNN1G):c.133G>A (p.Val45Met)
NM_001039.4(SCNN1G):c.1373+29T>C rs12708649
NM_001039.4(SCNN1G):c.1428G>A (p.Ser476=)
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) rs1596760831
NM_001039.4(SCNN1G):c.1431+20C>T
NM_001039.4(SCNN1G):c.1465G>C (p.Gly489Arg)
NM_001039.4(SCNN1G):c.1494-9A>G
NM_001039.4(SCNN1G):c.1517T>C (p.Ile506Thr)
NM_001039.4(SCNN1G):c.1526A>G (p.Lys509Arg)
NM_001039.4(SCNN1G):c.152T>C (p.Leu51Pro)
NM_001039.4(SCNN1G):c.1550T>A (p.Met517Lys)
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) rs144653364
NM_001039.4(SCNN1G):c.1561G>A (p.Ala521Thr)
NM_001039.4(SCNN1G):c.1570-9G>C
NM_001039.4(SCNN1G):c.1576A>T (p.Met526Leu)
NM_001039.4(SCNN1G):c.1586C>T (p.Ser529Phe)
NM_001039.4(SCNN1G):c.1648A>T (p.Ile550Phe)
NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile) rs2141946564
NM_001039.4(SCNN1G):c.1685C>T (p.Ala562Val)
NM_001039.4(SCNN1G):c.1690C>T (p.Arg564Cys)
NM_001039.4(SCNN1G):c.1738C>T (p.Pro580Ser)
NM_001039.4(SCNN1G):c.1742G>C (p.Cys581Ser)
NM_001039.4(SCNN1G):c.1779_1781dup (p.Pro594_Ala595insPro)
NM_001039.4(SCNN1G):c.1798G>A (p.Asp600Asn)
NM_001039.4(SCNN1G):c.1808C>G (p.Pro603Arg)
NM_001039.4(SCNN1G):c.1859C>T (p.Pro620Leu)
NM_001039.4(SCNN1G):c.1868C>T (p.Pro623Leu)
NM_001039.4(SCNN1G):c.1874C>G (p.Pro625Arg) rs1960144557
NM_001039.4(SCNN1G):c.1874C>T (p.Pro625Leu)
NM_001039.4(SCNN1G):c.1891C>T (p.Arg631Cys)
NM_001039.4(SCNN1G):c.1904C>A (p.Ala635Asp)
NM_001039.4(SCNN1G):c.1936C>G (p.Leu646Val)
NM_001039.4(SCNN1G):c.199A>G (p.Ile67Val)
NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met)
NM_001039.4(SCNN1G):c.211T>G (p.Cys71Gly)
NM_001039.4(SCNN1G):c.263A>G (p.His88Arg)
NM_001039.4(SCNN1G):c.296T>C (p.Ile99Thr)
NM_001039.4(SCNN1G):c.318G>A (p.Lys106=)
NM_001039.4(SCNN1G):c.326C>G (p.Thr109Ser)
NM_001039.4(SCNN1G):c.328G>A (p.Val110Ile)
NM_001039.4(SCNN1G):c.343G>A (p.Ala115Thr)
NM_001039.4(SCNN1G):c.35A>G (p.Lys12Arg)
NM_001039.4(SCNN1G):c.371C>G (p.Ala124Gly)
NM_001039.4(SCNN1G):c.410G>A (p.Arg137His)
NM_001039.4(SCNN1G):c.412C>T (p.Arg138Ter) rs866495683
NM_001039.4(SCNN1G):c.416_417del (p.Glu139fs)
NM_001039.4(SCNN1G):c.436G>A (p.Val146Ile)
NM_001039.4(SCNN1G):c.443A>G (p.Glu148Gly)
NM_001039.4(SCNN1G):c.476C>T (p.Pro159Leu)
NM_001039.4(SCNN1G):c.493C>G (p.Gln165Glu)
NM_001039.4(SCNN1G):c.505G>A (p.Gly169Ser)
NM_001039.4(SCNN1G):c.550G>A (p.Gly184Ser)
NM_001039.4(SCNN1G):c.551G>T (p.Gly184Val)
NM_001039.4(SCNN1G):c.568G>C (p.Ala190Pro)
NM_001039.4(SCNN1G):c.605T>A (p.Val202Glu)
NM_001039.4(SCNN1G):c.618+5G>A
NM_001039.4(SCNN1G):c.619-11C>T
NM_001039.4(SCNN1G):c.662C>T (p.Ser221Leu)
NM_001039.4(SCNN1G):c.674C>A (p.Ala225Asp)
NM_001039.4(SCNN1G):c.68C>T (p.Pro23Leu)
NM_001039.4(SCNN1G):c.747G>A (p.Met249Ile)
NM_001039.4(SCNN1G):c.772G>A (p.Val258Met)
NM_001039.4(SCNN1G):c.818C>T (p.Thr273Met)
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=) rs201341816
NM_001039.4(SCNN1G):c.833C>G (p.Pro278Arg)
NM_001039.4(SCNN1G):c.835A>T (p.Met279Leu)
NM_001039.4(SCNN1G):c.87G>A (p.Met29Ile)
NM_001039.4(SCNN1G):c.88C>G (p.Arg30Gly)
NM_001039.4(SCNN1G):c.890C>A (p.Thr297Asn)
NM_001039.4(SCNN1G):c.896T>C (p.Met299Thr)
NM_001039.4(SCNN1G):c.899G>C (p.Gly300Ala)
NM_001039.4(SCNN1G):c.913+2_913+5dup
NM_001039.4(SCNN1G):c.929T>C (p.Leu310Ser)
NM_001039.4(SCNN1G):c.936A>G (p.Ile312Met)
NM_001039.4(SCNN1G):c.93G>T (p.Trp31Cys)
NM_001039.4(SCNN1G):c.964G>A (p.Val322Met)
NM_001136.5(AGER):c.244G>A (p.Gly82Ser)
NM_001136.5(AGER):c.822+49G>T
NM_001136.5(AGER):c.964+208A>G
NM_001136.5(AGER):c.992-6G>A
NM_002421.3(MMP1):c.-1673G= rs1591085064
NM_005345.6(HSPA1A):c.-27G>C rs1043618
NM_005345.6(HSPA1A):c.1053G>A (p.Gln351=) rs1061581
NM_005346.6(HSPA1B):c.-178C>T rs6457452
NM_005527.4(HSPA1L):c.1478C>A (p.Thr493Lys) rs2227956
NM_014681.6(DHX34):c.466C>T (p.Gln156Ter) rs1599751192
NM_033656.4(BRWD1):c.1016T>C (p.Leu339Ser) rs2146693248
NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser) rs2146817189

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