ClinVar Miner

List of variants studied for Hereditary pancreatitis

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ClinVar version:
Total variants: 2038
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.142749281A>C rs4726576 0.56847
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_002769.5(PRSS1):c.738= (p.Asn246=) rs6667 0.46184
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_000492.4(CFTR):c.1408= (p.Val470=) rs213950 0.43268
NM_007272.3(CTRC):c.640-35G>T rs10927786 0.34421
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_007272.3(CTRC):c.493+51C>A rs10803384 0.21273
NM_001868.4(CPA1):c.474C>T (p.Tyr158=) rs968404 0.13541
NM_007272.3(CTRC):c.493+52G>A rs545634 0.10881
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_001379610.1(SPINK1):c.*32C>T rs11319 0.04721
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_007272.3(CTRC):c.493+49G>C rs6679763 0.04268
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03918
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_007272.3(CTRC):c.*86A>G rs760937 0.02983
NM_007272.3(CTRC):c.514A>G (p.Lys172Glu) rs34949635 0.02786
NM_007272.3(CTRC):c.*83T>C rs75456156 0.02717
NM_007272.3(CTRC):c.285C>T (p.Asp95=) rs41307798 0.02352
NM_001868.4(CPA1):c.622G>A (p.Ala208Thr) rs34474469 0.02091
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_007272.3(CTRC):c.230+38C>T rs115742618 0.01455
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_001379610.1(SPINK1):c.194+184T>A rs114094661 0.01063
NM_001379610.1(SPINK1):c.*51T>C rs113527737 0.01047
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_007272.3(CTRC):c.156C>T (p.Asn52=) rs77373944 0.00830
NM_001379610.1(SPINK1):c.231G>A (p.Gly77=) rs34809998 0.00827
NM_007272.3(CTRC):c.690G>A (p.Glu230=) rs75971387 0.00820
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_002769.5(PRSS1):c.592-79G>A rs531271210 0.00775
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_002769.5(PRSS1):c.279C>T (p.Ile93=) rs139664510 0.00489
NM_000492.4(CFTR):c.3718-2530A>G rs213990 0.00445
NM_002769.5(PRSS1):c.567T>C (p.Leu189=) rs377124851 0.00444
NM_001868.4(CPA1):c.604C>A (p.Gln202Lys) rs61735962 0.00405
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_001868.4(CPA1):c.321C>T (p.Phe107=) rs116214014 0.00316
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_007272.3(CTRC):c.793-42G>A rs201856611 0.00267
NM_007272.3(CTRC):c.793-45G>T rs199740500 0.00267
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_001868.4(CPA1):c.816G>A (p.Ser272=) rs34843162 0.00217
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp) rs144546424 0.00209
NM_001868.4(CPA1):c.621C>T (p.Thr207=) rs61735158 0.00205
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_001868.4(CPA1):c.371C>T (p.Thr124Ile) rs150653308 0.00165
NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr) rs111033566 0.00153
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001868.4(CPA1):c.1209G>A (p.Thr403=) rs113061008 0.00138
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_000492.3(CFTR):c.-1043dup rs574740041 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001868.4(CPA1):c.867T>C (p.Ile289=) rs115663631 0.00108
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_001868.4(CPA1):c.695C>T (p.Thr232Met) rs114488732 0.00104
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_007272.3(CTRC):c.357-44C>G rs200242846 0.00093
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_001868.4(CPA1):c.1029C>T (p.Leu343=) rs61735156 0.00071
NM_007272.3(CTRC):c.40+24G>A rs142888713 0.00071
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001868.4(CPA1):c.281A>G (p.Gln94Arg) rs41274176 0.00068
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_002769.5(PRSS1):c.40+10A>G rs199613498 0.00066
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00051
NM_002769.5(PRSS1):c.343T>A (p.Ser115Thr) rs606231344 0.00049
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_007272.3(CTRC):c.231-14C>T rs374364850 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_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 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_001868.4(CPA1):c.79C>T (p.Arg27Ter) rs141209213 0.00038
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001868.4(CPA1):c.486C>T (p.Phe162=) rs140633988 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn) rs143014431 0.00034
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln) rs145868278 0.00032
NM_001868.4(CPA1):c.5G>A (p.Arg2Gln) rs145988366 0.00030
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_007272.3(CTRC):c.231-15C>G rs1298564824 0.00029
NM_007272.3(CTRC):c.251T>C (p.Val84Ala) rs200369419 0.00028
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001379610.1(SPINK1):c.-43G>A rs185818957 0.00022
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu) rs142560329 0.00022
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_001379610.1(SPINK1):c.195-21T>A rs377350168 0.00021
NM_007272.3(CTRC):c.540G>T (p.Val180=) rs371479067 0.00021
NM_002769.5(PRSS1):c.621T>C (p.Asn207=) rs146995038 0.00020
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
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_001379610.1(SPINK1):c.-53C>T rs367798627 0.00019
NM_007272.3(CTRC):c.216C>T (p.Ala72=) rs140059353 0.00019
NM_007272.3(CTRC):c.736C>T (p.Arg246Cys) rs200412314 0.00019
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_001379610.1(SPINK1):c.87+26T>C rs200296519 0.00017
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001868.4(CPA1):c.1021G>A (p.Ala341Thr) rs77792157 0.00016
NM_001868.4(CPA1):c.492G>A (p.Thr164=) rs369058363 0.00016
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_003122.5(SPINK1):c.-142T>C rs755968566 0.00016
NM_007272.3(CTRC):c.27G>A (p.Ala9=) rs374821228 0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_002769.5(PRSS1):c.642C>A (p.Val214=) rs141697925 0.00015
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_003122.5(SPINK1):c.-191-24G>A rs191068215 0.00012
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_001379610.1(SPINK1):c.192T>C (p.Asn64=) rs765307896 0.00011
NM_001868.4(CPA1):c.861G>A (p.Lys287=) rs370049711 0.00011
NM_002769.5(PRSS1):c.243G>C (p.Leu81=) rs142476093 0.00011
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_001868.4(CPA1):c.630C>T (p.Leu210=) rs377138792 0.00010
NM_002769.5(PRSS1):c.*8A>G rs750733084 0.00010
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_002769.5(PRSS1):c.283C>T (p.Arg95Cys) rs201775810 0.00010
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_002769.5(PRSS1):c.40+1G>A rs149125789 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_002769.5(PRSS1):c.487G>A (p.Ala163Thr) rs557691366 0.00009
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_007272.3(CTRC):c.792+12C>A rs371799801 0.00009
NM_001868.4(CPA1):c.1145G>A (p.Arg382Gln) rs782284762 0.00008
NM_001868.4(CPA1):c.696G>A (p.Thr232=) rs150092860 0.00008
NM_001868.4(CPA1):c.774C>T (p.Asp258=) rs368689434 0.00008
NM_002769.5(PRSS1):c.284G>A (p.Arg95His) rs375820192 0.00008
NM_007272.3(CTRC):c.40+10G>A rs564455614 0.00008
NM_001868.4(CPA1):c.141C>T (p.His47=) rs535901465 0.00007
NM_001868.4(CPA1):c.859A>G (p.Lys287Glu) rs550709882 0.00007
NM_007272.3(CTRC):c.355C>T (p.Arg119Cys) rs768853400 0.00007
NM_007272.3(CTRC):c.356+17C>G rs376786664 0.00007
NM_007272.3(CTRC):c.484C>T (p.Arg162Cys) rs764908785 0.00007
NM_007272.3(CTRC):c.531G>A (p.Leu177=) rs751747891 0.00007
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) rs146947665 0.00006
NM_001379610.1(SPINK1):c.110A>G (p.Asn37Ser) rs200142833 0.00006
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr) rs373011963 0.00006
NM_001868.4(CPA1):c.419C>T (p.Pro140Leu) rs1186893434 0.00006
NM_001868.4(CPA1):c.41T>C (p.Val14Ala) rs782301578 0.00006
NM_001868.4(CPA1):c.586-3C>A rs557631781 0.00006
NM_002769.5(PRSS1):c.132C>G (p.Gly44=) rs761068371 0.00006
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_002769.5(PRSS1):c.541A>G (p.Ser181Gly) rs376907511 0.00006
NM_002769.5(PRSS1):c.591+8G>C rs371601976 0.00006
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00006
NM_002769.5(PRSS1):c.75T>C (p.Val25=) rs1249340827 0.00006
NM_007272.3(CTRC):c.161C>T (p.Thr54Met) rs559326793 0.00006
NM_007272.3(CTRC):c.39T>C (p.Cys13=) rs747431847 0.00006
NM_007272.3(CTRC):c.41-5C>A rs781284605 0.00006
NM_007272.3(CTRC):c.678C>T (p.Asn226=) rs777608312 0.00006
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001868.4(CPA1):c.1218G>A (p.Ala406=) rs569595458 0.00005
NM_001868.4(CPA1):c.506G>A (p.Arg169His) rs114365673 0.00005
NM_001868.4(CPA1):c.542G>A (p.Arg181Gln) rs377042960 0.00005
NM_001868.4(CPA1):c.65+3del rs574196558 0.00005
NM_002769.5(PRSS1):c.107C>G (p.Pro36Arg) rs769459903 0.00005
NM_002769.5(PRSS1):c.366C>T (p.Arg122=) rs201487096 0.00005
NM_002769.5(PRSS1):c.447C>A (p.Ser149Arg) rs372698855 0.00005
NM_002769.5(PRSS1):c.626A>G (p.Gln209Arg) rs576596527 0.00005
NM_007272.3(CTRC):c.52G>A (p.Gly18Arg) rs200576965 0.00005
NM_007272.3(CTRC):c.641G>A (p.Gly214Glu) rs1013133526 0.00005
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_001379610.1(SPINK1):c.111T>C (p.Asn37=) rs769216699 0.00004
NM_001379610.1(SPINK1):c.126A>G (p.Ile42Met) rs370266754 0.00004
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg) rs760077990 0.00004
NM_001868.4(CPA1):c.1017C>T (p.Ala339=) rs782263314 0.00004
NM_001868.4(CPA1):c.1032C>T (p.Tyr344=) rs202029176 0.00004
NM_001868.4(CPA1):c.1071T>A (p.Ile357=) rs533389472 0.00004
NM_001868.4(CPA1):c.1137C>T (p.Phe379=) rs570466241 0.00004
NM_001868.4(CPA1):c.1156C>T (p.Arg386Cys) rs201750163 0.00004
NM_001868.4(CPA1):c.137A>T (p.Glu46Val) rs201893877 0.00004
NM_001868.4(CPA1):c.218A>G (p.Gln73Arg) rs781892742 0.00004
NM_001868.4(CPA1):c.358G>A (p.Ala120Thr) rs782250540 0.00004
NM_001868.4(CPA1):c.726C>T (p.His242=) rs782178812 0.00004
NM_001868.4(CPA1):c.93C>T (p.Ala31=) rs565451182 0.00004
NM_002769.5(PRSS1):c.247G>C (p.Gly83Arg) rs372411481 0.00004
NM_002769.5(PRSS1):c.291C>G (p.Pro97=) rs200763933 0.00004
NM_002769.5(PRSS1):c.400G>A (p.Ala134Thr) rs752456117 0.00004
NM_002769.5(PRSS1):c.456C>T (p.Ala152=) rs777261723 0.00004
NM_002769.5(PRSS1):c.548T>C (p.Met183Thr) rs762123204 0.00004
NM_002769.5(PRSS1):c.6T>A (p.Asn2Lys) rs140591237 0.00004
NM_007272.3(CTRC):c.139C>T (p.Leu47Phe) rs769324644 0.00004
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter) rs121909294 0.00004
NM_007272.3(CTRC):c.286G>A (p.Glu96Lys) rs144286923 0.00004
NM_007272.3(CTRC):c.356G>A (p.Arg119His) rs748221308 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_007272.3(CTRC):c.549C>T (p.His183=) rs554399153 0.00004
NM_007272.3(CTRC):c.640-13C>T rs368477746 0.00004
NM_007272.3(CTRC):c.767C>G (p.Ser256Cys) rs772573958 0.00004
NM_007272.3(CTRC):c.81C>T (p.Ser27=) rs749455108 0.00004
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr) rs397508210 0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) rs145449046 0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val) rs397508670 0.00003
NM_001379610.1(SPINK1):c.*27G>T rs368871387 0.00003
NM_001379610.1(SPINK1):c.56-15C>T rs1172632130 0.00003
NM_001868.4(CPA1):c.1002G>A (p.Lys334=) rs940900312 0.00003
NM_001868.4(CPA1):c.295G>A (p.Glu99Lys) rs142112054 0.00003
NM_001868.4(CPA1):c.527C>T (p.Thr176Met) rs782190459 0.00003
NM_001868.4(CPA1):c.586-2A>G rs782465366 0.00003
NM_001868.4(CPA1):c.691A>G (p.Ser231Gly) rs1040062912 0.00003
NM_001868.4(CPA1):c.709C>T (p.Arg237Cys) rs184981267 0.00003
NM_001868.4(CPA1):c.776C>T (p.Ala259Val) rs1009079470 0.00003
NM_002769.5(PRSS1):c.200+10G>T rs200217253 0.00003
NM_002769.5(PRSS1):c.200+18G>A rs778658500 0.00003
NM_002769.5(PRSS1):c.256C>T (p.Gln86Ter) rs146398318 0.00003
NM_002769.5(PRSS1):c.31G>A (p.Ala11Thr) rs1276830284 0.00003
NM_002769.5(PRSS1):c.364C>G (p.Arg122Gly) rs111033568 0.00003
NM_002769.5(PRSS1):c.422T>A (p.Ile141Asn) rs748208676 0.00003
NM_002769.5(PRSS1):c.455C>G (p.Ala152Gly) rs770315312 0.00003
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn) rs61735002 0.00003
NM_002769.5(PRSS1):c.615C>T (p.Val205=) rs771252966 0.00003
NM_007272.3(CTRC):c.174G>A (p.Thr58=) rs746721892 0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00003
NM_007272.3(CTRC):c.205G>A (p.Val69Ile) rs760911831 0.00003
NM_007272.3(CTRC):c.356+1G>A rs151102347 0.00003
NM_007272.3(CTRC):c.356+7G>C rs773334021 0.00003
NM_007272.3(CTRC):c.485G>A (p.Arg162His) rs775404479 0.00003
NM_007272.3(CTRC):c.616G>A (p.Asp206Asn) rs780097120 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_007272.3(CTRC):c.69G>A (p.Pro23=) rs756394210 0.00003
NM_007272.3(CTRC):c.737G>A (p.Arg246His) rs147925927 0.00003
NM_007272.3(CTRC):c.84C>T (p.Ala28=) rs779009847 0.00003
NM_000492.4(CFTR):c.1050C>G (p.Val350=) rs1038437842 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.3033A>G (p.Leu1011=) rs773752573 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_001379610.1(SPINK1):c.*48C>T rs763350070 0.00002
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) rs193922659 0.00002
NM_001868.4(CPA1):c.114G>C (p.Lys38Asn) rs782393347 0.00002
NM_001868.4(CPA1):c.1151C>T (p.Thr384Ile) rs782571072 0.00002
NM_001868.4(CPA1):c.1192C>T (p.Pro398Ser) rs782420276 0.00002
NM_001868.4(CPA1):c.1193C>T (p.Pro398Leu) rs370058970 0.00002
NM_001868.4(CPA1):c.1217C>T (p.Ala406Val) rs186407335 0.00002
NM_001868.4(CPA1):c.1228A>G (p.Ile410Val) rs782718650 0.00002
NM_001868.4(CPA1):c.147+4A>C rs1459226203 0.00002
NM_001868.4(CPA1):c.197G>A (p.Arg66Gln) rs201332778 0.00002
NM_001868.4(CPA1):c.204C>T (p.Pro68=) rs781840776 0.00002
NM_001868.4(CPA1):c.329G>A (p.Arg110Gln) rs537076438 0.00002
NM_001868.4(CPA1):c.523G>A (p.Asp175Asn) rs782556361 0.00002
NM_001868.4(CPA1):c.65+3A>G rs577008275 0.00002
NM_001868.4(CPA1):c.718C>T (p.Arg240Trp) rs200036285 0.00002
NM_001868.4(CPA1):c.792C>T (p.Ser264=) rs782313134 0.00002
NM_001868.4(CPA1):c.815C>T (p.Ser272Leu) rs911586927 0.00002
NM_001868.4(CPA1):c.825C>T (p.Tyr275=) rs782346209 0.00002
NM_001868.4(CPA1):c.847G>A (p.Glu283Lys) rs782561684 0.00002
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe) rs765342413 0.00002
NM_002769.5(PRSS1):c.240C>T (p.Val80=) rs772622287 0.00002
NM_002769.5(PRSS1):c.292C>A (p.Gln98Lys) rs750348889 0.00002
NM_002769.5(PRSS1):c.297C>T (p.Tyr99=) rs373659879 0.00002
NM_002769.5(PRSS1):c.35C>T (p.Ala12Val) rs772363999 0.00002
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) rs199422123 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_002769.5(PRSS1):c.443C>G (p.Ala148Gly) rs762545562 0.00002
NM_002769.5(PRSS1):c.454+19C>A rs1414385892 0.00002
NM_002769.5(PRSS1):c.454G>A (p.Ala152Thr) rs766731858 0.00002
NM_002769.5(PRSS1):c.605G>C (p.Gly202Ala) rs199531292 0.00002
NM_002769.5(PRSS1):c.645C>T (p.Ser215=) rs764659707 0.00002
NM_002769.5(PRSS1):c.681A>G (p.Gly227=) rs780015944 0.00002
NM_002769.5(PRSS1):c.702C>A (p.Asn234Lys) rs773353079 0.00002
NM_002769.5(PRSS1):c.73G>A (p.Val25Ile) rs768051473 0.00002
NM_007272.3(CTRC):c.109C>T (p.Arg37Trp) rs770675516 0.00002
NM_007272.3(CTRC):c.133-19C>G rs777418401 0.00002
NM_007272.3(CTRC):c.230+6C>T rs1331333297 0.00002
NM_007272.3(CTRC):c.247C>G (p.Arg83Gly) rs747679121 0.00002
NM_007272.3(CTRC):c.35C>T (p.Ala12Val) rs1318452999 0.00002
NM_007272.3(CTRC):c.493+10G>A rs766857870 0.00002
NM_007272.3(CTRC):c.493+13C>G rs754270976 0.00002
NM_007272.3(CTRC):c.494-13A>G rs762842599 0.00002
NM_007272.3(CTRC):c.599T>C (p.Met200Thr) rs1004695259 0.00002
NM_007272.3(CTRC):c.607G>A (p.Ala203Thr) rs750408563 0.00002
NM_007272.3(CTRC):c.768C>T (p.Ser256=) rs778166573 0.00002
NM_007272.3(CTRC):c.82G>A (p.Ala28Thr) rs768414501 0.00002
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys) rs397508147 0.00001
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly) rs766181463 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_001379610.1(SPINK1):c.*34C>T rs377333227 0.00001
NM_001379610.1(SPINK1):c.109A>C (p.Asn37His) rs761739859 0.00001
NM_001379610.1(SPINK1):c.136G>C (p.Val46Leu) rs772387015 0.00001
NM_001379610.1(SPINK1):c.14G>A (p.Gly5Asp) rs759869911 0.00001
NM_001379610.1(SPINK1):c.175G>A (p.Val59Met) rs781162491 0.00001
NM_001379610.1(SPINK1):c.177G>A (p.Val59=) rs750670272 0.00001
NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp) rs1261616345 0.00001
NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp) rs536203389 0.00001
NM_001379610.1(SPINK1):c.194+15G>C rs371154048 0.00001
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 0.00001
NM_001379610.1(SPINK1):c.224A>T (p.Lys75Ile) rs1163281900 0.00001
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val) rs770387107 0.00001
NM_001379610.1(SPINK1):c.55+12A>G rs779623718 0.00001
NM_001379610.1(SPINK1):c.72C>T (p.Asp24=) rs1422602705 0.00001
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly) rs375368064 0.00001
NM_001379610.1(SPINK1):c.8T>C (p.Val3Ala) rs768306142 0.00001
NM_001868.4(CPA1):c.1022C>A (p.Ala341Asp) rs1374839239 0.00001
NM_001868.4(CPA1):c.1112A>G (p.Gln371Arg) rs781853343 0.00001
NM_001868.4(CPA1):c.1144C>T (p.Arg382Trp) rs782689631 0.00001
NM_001868.4(CPA1):c.1157G>A (p.Arg386His) rs782338563 0.00001
NM_001868.4(CPA1):c.1203G>A (p.Lys401=) rs781965999 0.00001
NM_001868.4(CPA1):c.1230C>T (p.Ile410=) rs1584854380 0.00001
NM_001868.4(CPA1):c.1258T>C (p.Ter420Arg) rs782257247 0.00001
NM_001868.4(CPA1):c.148-4C>T rs532631461 0.00001
NM_001868.4(CPA1):c.201G>T (p.Val67=) rs559471767 0.00001
NM_001868.4(CPA1):c.221C>T (p.Ala74Val) rs149470727 0.00001
NM_001868.4(CPA1):c.222G>T (p.Ala74=) rs781880789 0.00001
NM_001868.4(CPA1):c.273G>A (p.Glu91=) rs371709718 0.00001
NM_001868.4(CPA1):c.284C>T (p.Ser95Leu) rs375929600 0.00001
NM_001868.4(CPA1):c.2T>C (p.Met1Thr) rs142127319 0.00001
NM_001868.4(CPA1):c.322C>T (p.Arg108Trp) rs141886698 0.00001
NM_001868.4(CPA1):c.330G>T (p.Arg110=) rs1260418233 0.00001
NM_001868.4(CPA1):c.346A>G (p.Thr116Ala) rs368581566 0.00001
NM_001868.4(CPA1):c.36G>A (p.Gly12=) rs782329501 0.00001
NM_001868.4(CPA1):c.397G>C (p.Asp133His) rs1375640783 0.00001
NM_001868.4(CPA1):c.401T>G (p.Leu134Arg) rs781977220 0.00001
NM_001868.4(CPA1):c.405G>C (p.Leu135=) rs1554411309 0.00001
NM_001868.4(CPA1):c.40G>C (p.Val14Leu) rs1378007993 0.00001
NM_001868.4(CPA1):c.446G>C (p.Gly149Ala) rs782168130 0.00001
NM_001868.4(CPA1):c.4C>T (p.Arg2Trp) rs541913287 0.00001
NM_001868.4(CPA1):c.522C>T (p.Ile174=) rs1554411490 0.00001
NM_001868.4(CPA1):c.582G>A (p.Lys194=) rs782749933 0.00001
NM_001868.4(CPA1):c.607G>A (p.Asp203Asn) rs782589138 0.00001
NM_001868.4(CPA1):c.66-11A>T rs782638392 0.00001
NM_001868.4(CPA1):c.686C>T (p.Thr229Met) rs781815975 0.00001
NM_001868.4(CPA1):c.692G>A (p.Ser231Asn) rs782577921 0.00001
NM_001868.4(CPA1):c.696+5C>T rs528877594 0.00001
NM_001868.4(CPA1):c.751G>A (p.Val251Met) rs782158803 0.00001
NM_001868.4(CPA1):c.759C>G (p.Pro253=) rs201117743 0.00001
NM_001868.4(CPA1):c.787T>C (p.Leu263=) rs782458397 0.00001
NM_001868.4(CPA1):c.793G>A (p.Gly265Arg) rs782588903 0.00001
NM_001868.4(CPA1):c.796G>C (p.Ala266Pro) rs1321257803 0.00001
NM_001868.4(CPA1):c.80G>A (p.Arg27Gln) rs547564304 0.00001
NM_001868.4(CPA1):c.820A>G (p.Thr274Ala) rs781990114 0.00001
NM_001868.4(CPA1):c.829G>A (p.Gly277Ser) rs782790983 0.00001
NM_001868.4(CPA1):c.894C>T (p.Asn298=) rs1437424820 0.00001
NM_002769.5(PRSS1):c.112C>G (p.Gln38Glu) rs775259109 0.00001
NM_002769.5(PRSS1):c.138C>T (p.His46=) rs929867235 0.00001
NM_002769.5(PRSS1):c.163G>C (p.Glu55Gln) rs1365488828 0.00001
NM_002769.5(PRSS1):c.200+8T>C rs886038518 0.00001
NM_002769.5(PRSS1):c.200+9G>A rs1390484900 0.00001
NM_002769.5(PRSS1):c.203G>T (p.Arg68Leu) rs757111793 0.00001
NM_002769.5(PRSS1):c.234C>T (p.Ile78=) rs200801370 0.00001
NM_002769.5(PRSS1):c.261C>A (p.Phe87Leu) rs767354237 0.00001
NM_002769.5(PRSS1):c.264C>G (p.Ile88Met) rs199836666 0.00001
NM_002769.5(PRSS1):c.277A>T (p.Ile93Phe) rs1484477439 0.00001
NM_002769.5(PRSS1):c.304A>G (p.Lys102Glu) rs754618801 0.00001
NM_002769.5(PRSS1):c.342C>T (p.Ser114=) rs776924834 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002769.5(PRSS1):c.375C>A (p.Thr125=) rs1798775403 0.00001
NM_002769.5(PRSS1):c.384G>A (p.Leu128=) rs549140095 0.00001
NM_002769.5(PRSS1):c.38C>T (p.Ala13Val) rs773357729 0.00001
NM_002769.5(PRSS1):c.40+18C>A rs753283798 0.00001
NM_002769.5(PRSS1):c.40+3G>A rs762998940 0.00001
NM_002769.5(PRSS1):c.41-9C>G rs1268009079 0.00001
NM_002769.5(PRSS1):c.454+7G>A rs755175379 0.00001
NM_002769.5(PRSS1):c.455-3C>A rs760226452 0.00001
NM_002769.5(PRSS1):c.462C>T (p.Tyr154=) rs763292560 0.00001
NM_002769.5(PRSS1):c.497T>C (p.Leu166Pro) rs776120935 0.00001
NM_002769.5(PRSS1):c.529G>A (p.Gly177Arg) rs1240508430 0.00001
NM_002769.5(PRSS1):c.555T>C (p.Cys185=) rs1798833368 0.00001
NM_002769.5(PRSS1):c.561C>T (p.Gly187=) rs1804561 0.00001
NM_002769.5(PRSS1):c.570G>A (p.Glu190=) rs766441257 0.00001
NM_002769.5(PRSS1):c.653A>T (p.Asp218Val) rs199878511 0.00001
NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp) rs141554682 0.00001
NM_002769.5(PRSS1):c.76G>C (p.Gly26Arg) rs766579839 0.00001
NM_002769.5(PRSS1):c.81C>T (p.Gly27=) rs1403836546 0.00001
NM_002769.5(PRSS1):c.93G>A (p.Glu31=) rs745623963 0.00001
NM_007272.3(CTRC):c.143A>G (p.Gln48Arg) rs536812916 0.00001
NM_007272.3(CTRC):c.154A>G (p.Asn52Asp) rs1199793577 0.00001
NM_007272.3(CTRC):c.15T>C (p.Thr5=) rs1060504817 0.00001
NM_007272.3(CTRC):c.202T>A (p.Phe68Ile) rs772513025 0.00001
NM_007272.3(CTRC):c.210C>A (p.Leu70=) rs766739002 0.00001
NM_007272.3(CTRC):c.212C>T (p.Thr71Ile) rs560916216 0.00001
NM_007272.3(CTRC):c.22G>A (p.Ala8Thr) rs767349844 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.256G>A (p.Val86Met) rs367979183 0.00001
NM_007272.3(CTRC):c.25G>T (p.Ala9Ser) rs749888586 0.00001
NM_007272.3(CTRC):c.264G>A (p.Lys88=) rs575397166 0.00001
NM_007272.3(CTRC):c.26C>T (p.Ala9Val) rs772818172 0.00001
NM_007272.3(CTRC):c.320T>C (p.Ile107Thr) rs1708151410 0.00001
NM_007272.3(CTRC):c.325G>A (p.Val109Ile) rs372127821 0.00001
NM_007272.3(CTRC):c.331A>C (p.Lys111Gln) rs1460120830 0.00001
NM_007272.3(CTRC):c.352T>C (p.Leu118=) rs557582431 0.00001
NM_007272.3(CTRC):c.369C>T (p.Ala123=) rs749606141 0.00001
NM_007272.3(CTRC):c.40+12G>C rs781396039 0.00001
NM_007272.3(CTRC):c.40+18G>A rs1708076823 0.00001
NM_007272.3(CTRC):c.40+4A>G rs1222161661 0.00001
NM_007272.3(CTRC):c.40+7G>A rs369827801 0.00001
NM_007272.3(CTRC):c.41-6C>T rs372788092 0.00001
NM_007272.3(CTRC):c.462C>T (p.Pro154=) rs776457510 0.00001
NM_007272.3(CTRC):c.46A>G (p.Ser16Gly) rs765777463 0.00001
NM_007272.3(CTRC):c.473C>T (p.Thr158Ile) rs1238171999 0.00001
NM_007272.3(CTRC):c.474C>T (p.Thr158=) rs759334187 0.00001
NM_007272.3(CTRC):c.493+38G>A rs1488630264 0.00001
NM_007272.3(CTRC):c.493+9C>T rs199736095 0.00001
NM_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007272.3(CTRC):c.538G>A (p.Val180Met) rs780050276 0.00001
NM_007272.3(CTRC):c.569A>G (p.Asp190Gly) rs765613993 0.00001
NM_007272.3(CTRC):c.572G>T (p.Trp191Leu) rs753236329 0.00001
NM_007272.3(CTRC):c.58C>T (p.Pro20Ser) rs757630885 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007272.3(CTRC):c.606C>T (p.Cys202=) rs543348635 0.00001
NM_007272.3(CTRC):c.618T>A (p.Asp206Glu) rs749204330 0.00001
NM_007272.3(CTRC):c.631G>A (p.Ala211Thr) rs747965069 0.00001
NM_007272.3(CTRC):c.639+45A>G rs776164776 0.00001
NM_007272.3(CTRC):c.648C>T (p.Ser216=) rs755130943 0.00001
NM_007272.3(CTRC):c.679G>A (p.Gly227Ser) rs567745213 0.00001
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu) rs533967597 0.00001
NM_007272.3(CTRC):c.719G>A (p.Arg240Gln) rs760962602 0.00001
NM_007272.3(CTRC):c.71C>T (p.Pro24Leu) rs1241494944 0.00001
NM_007272.3(CTRC):c.721C>T (p.Arg241Trp) rs771229796 0.00001
NM_007272.3(CTRC):c.759C>T (p.Thr253=) rs1325006359 0.00001
NM_007272.3(CTRC):c.769G>A (p.Ala257Thr) rs200406696 0.00001
NM_007272.3(CTRC):c.777C>T (p.Ile259=) rs947267758 0.00001
NM_007272.3(CTRC):c.789C>T (p.Asn263=) rs762952174 0.00001
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter) rs747905422 0.00001
NM_007272.3(CTRC):c.86G>A (p.Arg29Gln) rs772024986 0.00001
GRCh38/hg38 1p36.21(chr1:15438455-15438514)
NC_000001.10:g.(?_15764902)_(15773084_?)dup
NC_000001.10:g.(?_15764951)_(15773094_?)dup
NC_000001.10:g.(?_15764955)_(15773090_?)del
NC_000001.10:g.(?_15764961)_(16063358_?)del
NC_000001.11:g.15445598_15445607del
NC_000005.10:g.(?_147824641)_(147831792_?)del
NC_000005.10:g.(?_147824655)_(147831583_?)del
NC_000005.10:g.(?_147824661)_(147831792_?)del
NC_000005.9:g.(?_147204204)_(147211355_?)dup
NC_000005.9:g.(?_147204224)_(147211355_?)dup
NC_000007.13:g.(?_142456998)_(142457385_?)del
NC_000007.13:g.(?_142457132)_(142457395_?)dup
NC_000007.13:g.(?_142457132)_(142460438_?)dup
NC_000007.13:g.(?_142457132)_(142460891_?)dup
NC_000007.13:g.(?_142457319)_(142460927_?)dup
NC_000007.13:g.(?_142457330)_(142460424_?)dup
NC_000007.13:g.(?_142457336)_(142460871_?)del
NC_000007.13:g.(?_142458396)_(142460871_?)del
NC_000007.13:g.(?_142458396)_(142460871_?)dup
NC_000007.13:g.(?_142459605)_(142460891_?)dup
NC_000007.13:g.(?_142459615)_(142460871_?)dup
NC_000007.13:g.(?_142459615)_(142460881_?)dup
NC_000007.13:g.(?_142459625)_(142460927_?)dup
NC_000007.13:g.(?_142460272)_(142460871_?)del
NC_000007.13:g.(?_142460272)_(142460871_?)dup
NC_000007.13:g.141443350_142460881dup
NC_000007.14:g.(?_142749147)_(142753020_?)dup
NC_000007.14:g.(?_142749281)_(142753040_?)del
NC_000007.14:g.(?_142749475)_(142753030_?)dup
NC_000007.14:g.142749126_142753040dup
NC_000007.14:g.142749147T>G
NM_000492.3(CFTR):c.-288G>C rs139688774
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.3963-78_4242+577del
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.4(CFTR):c.*842del rs886061953
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1066_1071del (p.Trp356_Ala357del) rs2116684480
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) rs76879328
NM_000492.4(CFTR):c.109A>T (p.Ile37Leu) rs759721412
NM_000492.4(CFTR):c.1209+80G>A rs948980243
NM_000492.4(CFTR):c.1227_1228del (p.Phe409fs) rs2115902766
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.1343_1350del (p.Ile448fs) rs2115903582
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.4(CFTR):c.1547_1548del (p.Arg516fs) rs1562898489
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg) rs121909005
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1682C>T (p.Ala561Val) rs121909047
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser) rs397508292
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr) rs377731410
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2278dup (p.Thr760fs) rs2116032755
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.4(CFTR):c.2914A>G (p.Ile972Val) rs2116069322
NM_000492.4(CFTR):c.2988+2T>G rs1792307406
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe) rs1562914212
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3301del (p.Gln1100_Met1101insTer) rs2116085156
NM_000492.4(CFTR):c.3639dup (p.Asp1214fs) rs2116129829
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT rs397515289
NM_000492.4(CFTR):c.3718-2477C>G
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) rs797045159
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3907A>T (p.Asn1303Tyr) rs121909042
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.532G>C (p.Gly178Arg) rs80282562
NM_000492.4(CFTR):c.640C>G (p.Leu214Val) rs188457893
NM_001379610.1(SPINK1):c.*77del rs886060089
NM_001379610.1(SPINK1):c.-42C>T rs181484530
NM_001379610.1(SPINK1):c.103G>T (p.Glu35Ter)
NM_001379610.1(SPINK1):c.105A>G (p.Glu35=)
NM_001379610.1(SPINK1):c.105A>T (p.Glu35Asp)
NM_001379610.1(SPINK1):c.107T>C (p.Leu36Pro)
NM_001379610.1(SPINK1):c.108T>A (p.Leu36=)
NM_001379610.1(SPINK1):c.110A>T (p.Asn37Ile) rs200142833
NM_001379610.1(SPINK1):c.114A>G (p.Gly38=) rs1561605325
NM_001379610.1(SPINK1):c.117C>T (p.Cys39=)
NM_001379610.1(SPINK1):c.123G>A (p.Lys41=)
NM_001379610.1(SPINK1):c.127T>C (p.Tyr43His) rs2127133850
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys) rs1561605311
NM_001379610.1(SPINK1):c.129_131dup (p.Asp44dup) rs878854607
NM_001379610.1(SPINK1):c.133C>A (p.Pro45Thr)
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp) rs1379675813
NM_001379610.1(SPINK1):c.147T>G (p.Thr49=)
NM_001379610.1(SPINK1):c.150T>C (p.Asp50=)
NM_001379610.1(SPINK1):c.150T>G (p.Asp50Glu) rs515726206
NM_001379610.1(SPINK1):c.155A>G (p.Asn52Ser)
NM_001379610.1(SPINK1):c.157A>G (p.Thr53Ala)
NM_001379610.1(SPINK1):c.159T>C (p.Thr53=)
NM_001379610.1(SPINK1):c.159T>G (p.Thr53=)
NM_001379610.1(SPINK1):c.160T>C (p.Tyr54His) rs515726207
NM_001379610.1(SPINK1):c.162T>C (p.Tyr54=)
NM_001379610.1(SPINK1):c.162del (p.Asn56fs)
NM_001379610.1(SPINK1):c.165del (p.Asn56fs) rs1756441909
NM_001379610.1(SPINK1):c.168T>A (p.Asn56Lys) rs1756441667
NM_001379610.1(SPINK1):c.16A>T (p.Ile6Phe)
NM_001379610.1(SPINK1):c.170A>G (p.Glu57Gly)
NM_001379610.1(SPINK1):c.172T>C (p.Cys58Arg)
NM_001379610.1(SPINK1):c.174C>A (p.Cys58Ter)
NM_001379610.1(SPINK1):c.182del (p.Cys61fs)
NM_001379610.1(SPINK1):c.186T>C (p.Phe62=)
NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly) rs1223176202
NM_001379610.1(SPINK1):c.194+19T>G
NM_001379610.1(SPINK1):c.195-15dup
NM_001379610.1(SPINK1):c.195-70_195-67dup rs554919880
NM_001379610.1(SPINK1):c.19T>A (p.Phe7Ile)
NM_001379610.1(SPINK1):c.200G>T (p.Arg67Leu)
NM_001379610.1(SPINK1):c.201C>T (p.Arg67=)
NM_001379610.1(SPINK1):c.204G>A (p.Gln68=)
NM_001379610.1(SPINK1):c.210T>C (p.Ser70=)
NM_001379610.1(SPINK1):c.211A>G (p.Ile71Val)
NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn)
NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro) rs749558779
NM_001379610.1(SPINK1):c.216C>T (p.Leu72=)
NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe) rs982462613
NM_001379610.1(SPINK1):c.218T>C (p.Ile73Thr)
NM_001379610.1(SPINK1):c.221A>G (p.Gln74Arg)
NM_001379610.1(SPINK1):c.222A>G (p.Gln74=)
NM_001379610.1(SPINK1):c.227C>G (p.Ser76Cys)
NM_001379610.1(SPINK1):c.229G>C (p.Gly77Arg)
NM_001379610.1(SPINK1):c.231G>C (p.Gly77=)
NM_001379610.1(SPINK1):c.232C>T (p.Pro78Ser)
NM_001379610.1(SPINK1):c.235T>G (p.Cys79Gly)
NM_001379610.1(SPINK1):c.236G>A (p.Cys79Tyr)
NM_001379610.1(SPINK1):c.237C>A (p.Cys79Ter)
NM_001379610.1(SPINK1):c.239G>A (p.Ter80=)
NM_001379610.1(SPINK1):c.23T>C (p.Leu8Pro)
NM_001379610.1(SPINK1):c.25C>G (p.Leu9Val)
NM_001379610.1(SPINK1):c.26T>C (p.Leu9Pro)
NM_001379610.1(SPINK1):c.29G>A (p.Ser10Asn)
NM_001379610.1(SPINK1):c.2T>C (p.Met1Thr) rs104893938
NM_001379610.1(SPINK1):c.30T>A (p.Ser10Arg)
NM_001379610.1(SPINK1):c.32C>T (p.Ala11Val)
NM_001379610.1(SPINK1):c.36_38delinsCGT (p.Leu12_Ala13delinsPheVal)
NM_001379610.1(SPINK1):c.40C>G (p.Leu14Val)
NM_001379610.1(SPINK1):c.41T>C (p.Leu14Pro) rs104893939
NM_001379610.1(SPINK1):c.41T>G (p.Leu14Arg) rs104893939
NM_001379610.1(SPINK1):c.47G>T (p.Ser16Ile)
NM_001379610.1(SPINK1):c.48T>C (p.Ser16=)
NM_001379610.1(SPINK1):c.52T>C (p.Ser18Pro)
NM_001379610.1(SPINK1):c.54T>G (p.Ser18=)
NM_001379610.1(SPINK1):c.55+11C>A
NM_001379610.1(SPINK1):c.55+1G>A
NM_001379610.1(SPINK1):c.55+1G>T rs1561606446
NM_001379610.1(SPINK1):c.55+5G>A rs879076423
NM_001379610.1(SPINK1):c.56-19A>G
NM_001379610.1(SPINK1):c.56G>A (p.Gly19Asp)
NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)
NM_001379610.1(SPINK1):c.64G>A (p.Gly22Arg) rs1580942670
NM_001379610.1(SPINK1):c.65G>C (p.Gly22Ala)
NM_001379610.1(SPINK1):c.68C>T (p.Ala23Val)
NM_001379610.1(SPINK1):c.6G>A (p.Lys2=)
NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)
NM_001379610.1(SPINK1):c.75C>A (p.Ser25=)
NM_001379610.1(SPINK1):c.75C>G (p.Ser25=)
NM_001379610.1(SPINK1):c.7G>A (p.Val3Ile)
NM_001379610.1(SPINK1):c.80G>A (p.Gly27Glu) rs769727763
NM_001379610.1(SPINK1):c.83G>A (p.Arg28Lys)
NM_001379610.1(SPINK1):c.84A>T (p.Arg28Ser)
NM_001379610.1(SPINK1):c.87+10T>C rs955053963
NM_001379610.1(SPINK1):c.87+18A>G
NM_001379610.1(SPINK1):c.87+1G>A rs1554089895
NM_001379610.1(SPINK1):c.87+6G>C rs1554089890
NM_001379610.1(SPINK1):c.87+7A>G rs1756473313
NM_001379610.1(SPINK1):c.87+7A>T rs1756473313
NM_001379610.1(SPINK1):c.88-10C>T
NM_001379610.1(SPINK1):c.88-20C>A
NM_001379610.1(SPINK1):c.92A>T (p.Lys31Ile)
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del) rs767903021
NM_001379610.1(SPINK1):c.99C>T (p.Tyr33=)
NM_001379610.1(SPINK1):c.9A>C (p.Val3=)
NM_001868.4(CPA1):c.-1C>G
NM_001868.4(CPA1):c.-5G>C
NM_001868.4(CPA1):c.1001A>G (p.Lys334Arg)
NM_001868.4(CPA1):c.1003G>A (p.Ala335Thr)
NM_001868.4(CPA1):c.1003G>C (p.Ala335Pro)
NM_001868.4(CPA1):c.1006G>T (p.Ala336Ser)
NM_001868.4(CPA1):c.1008T>A (p.Ala336=)
NM_001868.4(CPA1):c.1008T>G (p.Ala336=)
NM_001868.4(CPA1):c.1009G>A (p.Val337Met)
NM_001868.4(CPA1):c.1010T>C (p.Val337Ala)
NM_001868.4(CPA1):c.1011G>A (p.Val337=)
NM_001868.4(CPA1):c.1016C>A (p.Ala339Asp) rs1796467819
NM_001868.4(CPA1):c.1017C>G (p.Ala339=)
NM_001868.4(CPA1):c.101C>G (p.Ala34Gly)
NM_001868.4(CPA1):c.1025C>G (p.Ser342Cys)
NM_001868.4(CPA1):c.1025C>T (p.Ser342Phe)
NM_001868.4(CPA1):c.102C>T (p.Ala34=)
NM_001868.4(CPA1):c.1033G>T (p.Gly345Trp)
NM_001868.4(CPA1):c.1035G>A (p.Gly345=)
NM_001868.4(CPA1):c.1035G>C (p.Gly345=)
NM_001868.4(CPA1):c.1041G>A (p.Lys347=)
NM_001868.4(CPA1):c.1042T>G (p.Phe348Val)
NM_001868.4(CPA1):c.1047C>T (p.Asn349=)
NM_001868.4(CPA1):c.1049A>G (p.Tyr350Cys)
NM_001868.4(CPA1):c.1050T>C (p.Tyr350=)
NM_001868.4(CPA1):c.1054A>C (p.Ser352Arg)
NM_001868.4(CPA1):c.1058T>G (p.Ile353Ser)
NM_001868.4(CPA1):c.1069A>G (p.Ile357Val)
NM_001868.4(CPA1):c.1072+1G>T rs782539361
NM_001868.4(CPA1):c.1073-10C>T rs1554412208
NM_001868.4(CPA1):c.1074T>C (p.Tyr358=)
NM_001868.4(CPA1):c.1077A>G (p.Gln359=)
NM_001868.4(CPA1):c.1079C>G (p.Ala360Gly)
NM_001868.4(CPA1):c.1089C>G (p.Ser363Arg)
NM_001868.4(CPA1):c.1089C>T (p.Ser363=) rs1554412216
NM_001868.4(CPA1):c.1100G>A (p.Trp367Ter)
NM_001868.4(CPA1):c.1103C>T (p.Thr368Ile)
NM_001868.4(CPA1):c.1105T>C (p.Tyr369His)
NM_001868.4(CPA1):c.1109G>A (p.Ser370Asn)
NM_001868.4(CPA1):c.1109G>T (p.Ser370Ile)
NM_001868.4(CPA1):c.1110C>G (p.Ser370Arg)
NM_001868.4(CPA1):c.1117A>T (p.Ile373Phe)
NM_001868.4(CPA1):c.1122G>A (p.Lys374=) rs1584854234
NM_001868.4(CPA1):c.1124A>G (p.Tyr375Cys)
NM_001868.4(CPA1):c.1125C>T (p.Tyr375=)
NM_001868.4(CPA1):c.1126T>C (p.Ser376Pro)
NM_001868.4(CPA1):c.1129T>C (p.Phe377Leu)
NM_001868.4(CPA1):c.1131C>T (p.Phe377=)
NM_001868.4(CPA1):c.1134C>T (p.Thr378=)
NM_001868.4(CPA1):c.1135T>C (p.Phe379Leu)
NM_001868.4(CPA1):c.1138G>C (p.Glu380Gln)
NM_001868.4(CPA1):c.1141C>G (p.Leu381Val)
NM_001868.4(CPA1):c.1141C>T (p.Leu381Phe)
NM_001868.4(CPA1):c.1142T>A (p.Leu381His)
NM_001868.4(CPA1):c.1149C>T (p.Asp383=)
NM_001868.4(CPA1):c.1151C>G (p.Thr384Ser)
NM_001868.4(CPA1):c.1152T>A (p.Thr384=)
NM_001868.4(CPA1):c.1152T>C (p.Thr384=)
NM_001868.4(CPA1):c.1158C>T (p.Arg386=)
NM_001868.4(CPA1):c.115G>A (p.Val39Met)
NM_001868.4(CPA1):c.1161T>C (p.Tyr387=)
NM_001868.4(CPA1):c.1164C>A (p.Gly388=)
NM_001868.4(CPA1):c.1164C>T (p.Gly388=)
NM_001868.4(CPA1):c.1170G>A (p.Leu390=)
NM_001868.4(CPA1):c.1170G>C (p.Leu390=)
NM_001868.4(CPA1):c.1177G>C (p.Ala393Pro)
NM_001868.4(CPA1):c.1180T>C (p.Ser394Pro)
NM_001868.4(CPA1):c.1182C>T (p.Ser394=)
NM_001868.4(CPA1):c.1185G>T (p.Gln395His)
NM_001868.4(CPA1):c.1186A>T (p.Ile396Phe)
NM_001868.4(CPA1):c.1197A>G (p.Thr399=)
NM_001868.4(CPA1):c.1199C>T (p.Ala400Val)
NM_001868.4(CPA1):c.1201A>C (p.Lys401Gln)
NM_001868.4(CPA1):c.1202A>G (p.Lys401Arg)
NM_001868.4(CPA1):c.1208C>T (p.Thr403Met)
NM_001868.4(CPA1):c.120G>A (p.Lys40=)
NM_001868.4(CPA1):c.1211G>T (p.Trp404Leu)
NM_001868.4(CPA1):c.1212G>C (p.Trp404Cys) rs1554412248
NM_001868.4(CPA1):c.1213C>T (p.Leu405=) rs1584854358
NM_001868.4(CPA1):c.1215G>A (p.Leu405=)
NM_001868.4(CPA1):c.1219C>T (p.Leu407Phe)
NM_001868.4(CPA1):c.121G>A (p.Glu41Lys)
NM_001868.4(CPA1):c.1223T>G (p.Leu408Arg)
NM_001868.4(CPA1):c.1224G>A (p.Leu408=)
NM_001868.4(CPA1):c.1228_1251dup (p.His417_Pro418insIleMetGluHisThrLeuAsnHis)
NM_001868.4(CPA1):c.1232T>A (p.Met411Lys)
NM_001868.4(CPA1):c.1234G>A (p.Glu412Lys)
NM_001868.4(CPA1):c.1234G>C (p.Glu412Gln)
NM_001868.4(CPA1):c.1236G>A (p.Glu412=)
NM_001868.4(CPA1):c.1238A>G (p.His413Arg)
NM_001868.4(CPA1):c.123G>A (p.Glu41=)
NM_001868.4(CPA1):c.1241C>T (p.Thr414Ile)
NM_001868.4(CPA1):c.1242C>T (p.Thr414=)
NM_001868.4(CPA1):c.1243C>A (p.Leu415Met)
NM_001868.4(CPA1):c.1245G>C (p.Leu415=)
NM_001868.4(CPA1):c.1249C>T (p.His417Tyr)
NM_001868.4(CPA1):c.124C>G (p.Leu42Val)
NM_001868.4(CPA1):c.1251C>T (p.His417=)
NM_001868.4(CPA1):c.1252C>G (p.Pro418Ala)
NM_001868.4(CPA1):c.1252C>T (p.Pro418Ser)
NM_001868.4(CPA1):c.1254C>A (p.Pro418=)
NM_001868.4(CPA1):c.1254C>T (p.Pro418=)
NM_001868.4(CPA1):c.1256A>G (p.Tyr419Cys)
NM_001868.4(CPA1):c.130G>A (p.Asp44Asn)
NM_001868.4(CPA1):c.131A>C (p.Asp44Ala) rs968811807
NM_001868.4(CPA1):c.136G>A (p.Glu46Lys)
NM_001868.4(CPA1):c.139C>T (p.His47Tyr)
NM_001868.4(CPA1):c.141C>A (p.His47Gln)
NM_001868.4(CPA1):c.142del (p.Leu48fs)
NM_001868.4(CPA1):c.143T>G (p.Leu48Arg)
NM_001868.4(CPA1):c.144G>A (p.Leu48=)
NM_001868.4(CPA1):c.144G>C (p.Leu48=)
NM_001868.4(CPA1):c.146A>G (p.Gln49Arg)
NM_001868.4(CPA1):c.149T>G (p.Leu50Arg)
NM_001868.4(CPA1):c.14T>C (p.Leu5Pro)
NM_001868.4(CPA1):c.158G>C (p.Trp53Ser)
NM_001868.4(CPA1):c.159G>C (p.Trp53Cys) rs782384499
NM_001868.4(CPA1):c.15G>A (p.Leu5=)
NM_001868.4(CPA1):c.160C>A (p.Arg54=) rs782645631
NM_001868.4(CPA1):c.161G>A (p.Arg54Gln)
NM_001868.4(CPA1):c.163G>T (p.Gly55Trp)
NM_001868.4(CPA1):c.164G>A (p.Gly55Glu)
NM_001868.4(CPA1):c.165G>A (p.Gly55=) rs1126899
NM_001868.4(CPA1):c.165G>C (p.Gly55=) rs1126899
NM_001868.4(CPA1):c.165G>T (p.Gly55=)
NM_001868.4(CPA1):c.173A>T (p.His58Leu)
NM_001868.4(CPA1):c.176C>G (p.Pro59Arg)
NM_001868.4(CPA1):c.178G>A (p.Gly60Ser)
NM_001868.4(CPA1):c.179G>A (p.Gly60Asp)
NM_001868.4(CPA1):c.179G>C (p.Gly60Ala)
NM_001868.4(CPA1):c.17T>C (p.Val6Ala)
NM_001868.4(CPA1):c.182C>A (p.Ser61Tyr)
NM_001868.4(CPA1):c.182C>T (p.Ser61Phe)
NM_001868.4(CPA1):c.183C>G (p.Ser61=)
NM_001868.4(CPA1):c.186C>T (p.Pro62=)
NM_001868.4(CPA1):c.193G>T (p.Val65Phe)
NM_001868.4(CPA1):c.196C>A (p.Arg66=)
NM_001868.4(CPA1):c.197G>C (p.Arg66Pro)
NM_001868.4(CPA1):c.19T>C (p.Leu7=)
NM_001868.4(CPA1):c.209C>T (p.Pro70Leu)
NM_001868.4(CPA1):c.213C>T (p.Ser71=)
NM_001868.4(CPA1):c.216C>A (p.Ile72=)
NM_001868.4(CPA1):c.221C>G (p.Ala74Gly)
NM_001868.4(CPA1):c.222G>A (p.Ala74=)
NM_001868.4(CPA1):c.226A>G (p.Lys76Glu) rs1796407106
NM_001868.4(CPA1):c.228G>C (p.Lys76Asn)
NM_001868.4(CPA1):c.235C>T (p.Leu79=)
NM_001868.4(CPA1):c.238G>A (p.Glu80Lys)
NM_001868.4(CPA1):c.23G>T (p.Ser8Ile) rs2117498346
NM_001868.4(CPA1):c.243C>T (p.Ser81=)
NM_001868.4(CPA1):c.246C>A (p.His82Gln)
NM_001868.4(CPA1):c.246C>T (p.His82=)
NM_001868.4(CPA1):c.247G>C (p.Gly83Arg)
NM_001868.4(CPA1):c.249C>T (p.Gly83=)
NM_001868.4(CPA1):c.257A>G (p.Tyr86Cys)
NM_001868.4(CPA1):c.261G>A (p.Glu87=)
NM_001868.4(CPA1):c.263C>T (p.Thr88Ile)
NM_001868.4(CPA1):c.265A>G (p.Met89Val)
NM_001868.4(CPA1):c.270C>G (p.Ile90Met)
NM_001868.4(CPA1):c.276C>T (p.Asp92=) rs782248092
NM_001868.4(CPA1):c.277G>A (p.Val93Met)
NM_001868.4(CPA1):c.277G>T (p.Val93Leu)
NM_001868.4(CPA1):c.285G>A (p.Ser95=)
NM_001868.4(CPA1):c.288G>C (p.Leu96=)
NM_001868.4(CPA1):c.290T>C (p.Leu97Pro)
NM_001868.4(CPA1):c.290T>G (p.Leu97Arg)
NM_001868.4(CPA1):c.291G>A (p.Leu97=) rs2117500459
NM_001868.4(CPA1):c.293A>T (p.Asp98Val)
NM_001868.4(CPA1):c.294C>G (p.Asp98Glu)
NM_001868.4(CPA1):c.297G>A (p.Glu99=)
NM_001868.4(CPA1):c.297G>C (p.Glu99Asp)
NM_001868.4(CPA1):c.298G>A (p.Glu100Lys) rs900864227
NM_001868.4(CPA1):c.2_8delinsGCA (p.Met1fs)
NM_001868.4(CPA1):c.304G>A (p.Glu102Lys)
NM_001868.4(CPA1):c.306del (p.Glu102fs)
NM_001868.4(CPA1):c.307C>G (p.Gln103Glu)
NM_001868.4(CPA1):c.308A>G (p.Gln103Arg)
NM_001868.4(CPA1):c.309G>A (p.Gln103=)
NM_001868.4(CPA1):c.309G>C (p.Gln103His)
NM_001868.4(CPA1):c.30G>A (p.Leu10=)
NM_001868.4(CPA1):c.30G>C (p.Leu10=)
NM_001868.4(CPA1):c.316G>A (p.Ala106Thr)
NM_001868.4(CPA1):c.317C>T (p.Ala106Val)
NM_001868.4(CPA1):c.318C>G (p.Ala106=)
NM_001868.4(CPA1):c.31T>C (p.Leu11=)
NM_001868.4(CPA1):c.324G>C (p.Arg108=)
NM_001868.4(CPA1):c.325T>C (p.Ser109Pro)
NM_001868.4(CPA1):c.327C>T (p.Ser109=)
NM_001868.4(CPA1):c.328C>G (p.Arg110Gly)
NM_001868.4(CPA1):c.332C>T (p.Ala111Val)
NM_001868.4(CPA1):c.336C>T (p.Arg112=)
NM_001868.4(CPA1):c.338C>T (p.Ser113Phe)
NM_001868.4(CPA1):c.33G>T (p.Leu11Phe)
NM_001868.4(CPA1):c.342C>A (p.Thr114=)
NM_001868.4(CPA1):c.342C>G (p.Thr114=)
NM_001868.4(CPA1):c.342C>T (p.Thr114=)
NM_001868.4(CPA1):c.343G>A (p.Asp115Asn)
NM_001868.4(CPA1):c.345C>T (p.Asp115=) rs2117500618
NM_001868.4(CPA1):c.347C>G (p.Thr116Ser)
NM_001868.4(CPA1):c.348T>A (p.Thr116=)
NM_001868.4(CPA1):c.350T>C (p.Phe117Ser)
NM_001868.4(CPA1):c.353A>G (p.Asn118Ser)
NM_001868.4(CPA1):c.355T>C (p.Tyr119His)
NM_001868.4(CPA1):c.356A>C (p.Tyr119Ser)
NM_001868.4(CPA1):c.356A>G (p.Tyr119Cys)
NM_001868.4(CPA1):c.357C>T (p.Tyr119=)
NM_001868.4(CPA1):c.359C>T (p.Ala120Val)
NM_001868.4(CPA1):c.364T>A (p.Tyr122Asn)
NM_001868.4(CPA1):c.368A>G (p.His123Arg)
NM_001868.4(CPA1):c.369C>T (p.His123=)
NM_001868.4(CPA1):c.370A>C (p.Thr124Pro)
NM_001868.4(CPA1):c.374T>G (p.Leu125Arg)
NM_001868.4(CPA1):c.376G>A (p.Glu126Lys)
NM_001868.4(CPA1):c.37G>A (p.Ala13Thr)
NM_001868.4(CPA1):c.380A>G (p.Glu127Gly)
NM_001868.4(CPA1):c.382-4T>A
NM_001868.4(CPA1):c.382A>G (p.Ile128Val)
NM_001868.4(CPA1):c.386A>G (p.Tyr129Cys)
NM_001868.4(CPA1):c.387T>C (p.Tyr129=)
NM_001868.4(CPA1):c.389A>C (p.Asp130Ala) rs782428216
NM_001868.4(CPA1):c.389A>T (p.Asp130Val)
NM_001868.4(CPA1):c.395T>A (p.Leu132Gln)
NM_001868.4(CPA1):c.400C>A (p.Leu134Met)
NM_001868.4(CPA1):c.401del (p.Leu134fs) rs1554411307
NM_001868.4(CPA1):c.405G>A (p.Leu135=)
NM_001868.4(CPA1):c.406G>A (p.Val136Met)
NM_001868.4(CPA1):c.408G>A (p.Val136=)
NM_001868.4(CPA1):c.409G>A (p.Ala137Thr) rs1418197645
NM_001868.4(CPA1):c.410C>G (p.Ala137Gly) rs183429188
NM_001868.4(CPA1):c.411G>A (p.Ala137=)
NM_001868.4(CPA1):c.411G>C (p.Ala137=)
NM_001868.4(CPA1):c.412G>A (p.Glu138Lys)
NM_001868.4(CPA1):c.419C>A (p.Pro140Gln)
NM_001868.4(CPA1):c.419C>G (p.Pro140Arg)
NM_001868.4(CPA1):c.420G>A (p.Pro140=)
NM_001868.4(CPA1):c.420G>C (p.Pro140=)
NM_001868.4(CPA1):c.421C>A (p.His141Asn)
NM_001868.4(CPA1):c.421C>T (p.His141Tyr) rs1584851048
NM_001868.4(CPA1):c.423C>T (p.His141=)
NM_001868.4(CPA1):c.424C>T (p.Leu142Phe)
NM_001868.4(CPA1):c.428T>A (p.Val143Asp)
NM_001868.4(CPA1):c.429C>T (p.Val143=)
NM_001868.4(CPA1):c.42C>A (p.Val14=)
NM_001868.4(CPA1):c.42C>T (p.Val14=)
NM_001868.4(CPA1):c.432C>G (p.Ser144Arg) rs2117501364
NM_001868.4(CPA1):c.434A>G (p.Lys145Arg)
NM_001868.4(CPA1):c.435G>A (p.Lys145=)
NM_001868.4(CPA1):c.443T>C (p.Ile148Thr)
NM_001868.4(CPA1):c.444T>G (p.Ile148Met)
NM_001868.4(CPA1):c.446G>A (p.Gly149Asp)
NM_001868.4(CPA1):c.448A>C (p.Asn150His)
NM_001868.4(CPA1):c.451A>G (p.Thr151Ala)
NM_001868.4(CPA1):c.453C>T (p.Thr151=)
NM_001868.4(CPA1):c.456T>C (p.Tyr152=)
NM_001868.4(CPA1):c.459A>G (p.Glu153=)
NM_001868.4(CPA1):c.462G>T (p.Gly154=)
NM_001868.4(CPA1):c.463C>G (p.Arg155Gly)
NM_001868.4(CPA1):c.463C>T (p.Arg155Cys)
NM_001868.4(CPA1):c.464G>A (p.Arg155His)
NM_001868.4(CPA1):c.465T>C (p.Arg155=)
NM_001868.4(CPA1):c.468C>T (p.Pro156=)
NM_001868.4(CPA1):c.469A>C (p.Ile157Leu)
NM_001868.4(CPA1):c.471T>C (p.Ile157=)
NM_001868.4(CPA1):c.473A>G (p.Tyr158Cys)
NM_001868.4(CPA1):c.480G>A (p.Leu160=)
NM_001868.4(CPA1):c.480G>T (p.Leu160=)
NM_001868.4(CPA1):c.488G>A (p.Ser163Asn)
NM_001868.4(CPA1):c.489C>T (p.Ser163=)
NM_001868.4(CPA1):c.490A>T (p.Thr164Ser)
NM_001868.4(CPA1):c.492G>C (p.Thr164=)
NM_001868.4(CPA1):c.492G>T (p.Thr164=)
NM_001868.4(CPA1):c.493G>A (p.Gly165Arg)
NM_001868.4(CPA1):c.494G>C (p.Gly165Ala)
NM_001868.4(CPA1):c.495G>A (p.Gly165=)
NM_001868.4(CPA1):c.499A>G (p.Ser167Gly)
NM_001868.4(CPA1):c.500G>A (p.Ser167Asn)
NM_001868.4(CPA1):c.503A>C (p.Lys168Thr)
NM_001868.4(CPA1):c.503A>G (p.Lys168Arg)
NM_001868.4(CPA1):c.505C>T (p.Arg169Cys)
NM_001868.4(CPA1):c.513C>T (p.Ala171=)
NM_001868.4(CPA1):c.514A>G (p.Ile172Val)
NM_001868.4(CPA1):c.526A>C (p.Thr176Pro)
NM_001868.4(CPA1):c.528G>A (p.Thr176=)
NM_001868.4(CPA1):c.531C>A (p.Gly177=)
NM_001868.4(CPA1):c.531C>T (p.Gly177=)
NM_001868.4(CPA1):c.532A>C (p.Ile178Leu)
NM_001868.4(CPA1):c.535C>T (p.His179Tyr)
NM_001868.4(CPA1):c.536A>G (p.His179Arg)
NM_001868.4(CPA1):c.539C>T (p.Ser180Phe)
NM_001868.4(CPA1):c.540C>T (p.Ser180=)
NM_001868.4(CPA1):c.541C>T (p.Arg181Trp)
NM_001868.4(CPA1):c.543G>A (p.Arg181=)
NM_001868.4(CPA1):c.546G>A (p.Glu182=) rs2117503222
NM_001868.4(CPA1):c.547T>G (p.Trp183Gly)
NM_001868.4(CPA1):c.548G>T (p.Trp183Leu)
NM_001868.4(CPA1):c.552C>T (p.Val184=)
NM_001868.4(CPA1):c.555C>G (p.Thr185=)
NM_001868.4(CPA1):c.557A>C (p.Gln186Pro)
NM_001868.4(CPA1):c.559G>A (p.Ala187Thr)
NM_001868.4(CPA1):c.564T>C (p.Ser188=)
NM_001868.4(CPA1):c.567G>A (p.Gly189=)
NM_001868.4(CPA1):c.570C>G (p.Val190=)
NM_001868.4(CPA1):c.577G>T (p.Ala193Ser)
NM_001868.4(CPA1):c.57C>T (p.Asp19=)
NM_001868.4(CPA1):c.586-1G>T
NM_001868.4(CPA1):c.589A>C (p.Thr197Pro)
NM_001868.4(CPA1):c.591T>C (p.Thr197=)
NM_001868.4(CPA1):c.592C>G (p.Gln198Glu)
NM_001868.4(CPA1):c.595G>A (p.Asp199Asn)
NM_001868.4(CPA1):c.597C>T (p.Asp199=)
NM_001868.4(CPA1):c.598T>C (p.Tyr200His)
NM_001868.4(CPA1):c.599_600delinsG (p.Tyr200fs) rs1584851947
NM_001868.4(CPA1):c.600C>T (p.Tyr200=) rs12706927
NM_001868.4(CPA1):c.601G>A (p.Gly201Arg)
NM_001868.4(CPA1):c.601G>C (p.Gly201Arg)
NM_001868.4(CPA1):c.60T>C (p.Phe20=)
NM_001868.4(CPA1):c.611C>A (p.Ala204Glu)
NM_001868.4(CPA1):c.612A>C (p.Ala204=)
NM_001868.4(CPA1):c.614C>T (p.Ala205Val)
NM_001868.4(CPA1):c.615T>G (p.Ala205=)
NM_001868.4(CPA1):c.619A>C (p.Thr207Pro)
NM_001868.4(CPA1):c.626T>G (p.Ile209Ser)
NM_001868.4(CPA1):c.627T>C (p.Ile209=)
NM_001868.4(CPA1):c.629T>A (p.Leu210His)
NM_001868.4(CPA1):c.630C>G (p.Leu210=)
NM_001868.4(CPA1):c.631G>A (p.Asp211Asn)
NM_001868.4(CPA1):c.633C>T (p.Asp211=) rs1554411582
NM_001868.4(CPA1):c.635C>A (p.Thr212Asn) rs540251433
NM_001868.4(CPA1):c.635C>G (p.Thr212Ser) rs540251433
NM_001868.4(CPA1):c.637T>C (p.Leu213=)
NM_001868.4(CPA1):c.63G>A (p.Val21=)
NM_001868.4(CPA1):c.644T>C (p.Ile215Thr)
NM_001868.4(CPA1):c.648C>T (p.Phe216=)
NM_001868.4(CPA1):c.649C>A (p.Leu217Met)
NM_001868.4(CPA1):c.649C>T (p.Leu217=)
NM_001868.4(CPA1):c.64G>A (p.Gly22Arg)
NM_001868.4(CPA1):c.650T>C (p.Leu217Pro)
NM_001868.4(CPA1):c.655A>T (p.Ile219Phe)
NM_001868.4(CPA1):c.657C>A (p.Ile219=)
NM_001868.4(CPA1):c.657C>G (p.Ile219Met) rs1057524778
NM_001868.4(CPA1):c.657C>T (p.Ile219=) rs1057524778
NM_001868.4(CPA1):c.658G>A (p.Val220Ile)
NM_001868.4(CPA1):c.658G>C (p.Val220Leu)
NM_001868.4(CPA1):c.65G>C (p.Gly22Ala)
NM_001868.4(CPA1):c.66-3C>T
NM_001868.4(CPA1):c.660C>T (p.Val220=)
NM_001868.4(CPA1):c.661A>G (p.Thr221Ala)
NM_001868.4(CPA1):c.674G>C (p.Gly225Ala)
NM_001868.4(CPA1):c.674G>T (p.Gly225Val)
NM_001868.4(CPA1):c.681C>T (p.Ala227=)
NM_001868.4(CPA1):c.686C>A (p.Thr229Lys) rs781815975
NM_001868.4(CPA1):c.687G>A (p.Thr229=)
NM_001868.4(CPA1):c.687G>T (p.Thr229=)
NM_001868.4(CPA1):c.690C>T (p.His230=)
NM_001868.4(CPA1):c.696+6G>A rs1046847986
NM_001868.4(CPA1):c.697A>C (p.Asn233His)
NM_001868.4(CPA1):c.700C>G (p.Arg234Gly)
NM_001868.4(CPA1):c.701G>A (p.Arg234His)
NM_001868.4(CPA1):c.703A>G (p.Met235Val)
NM_001868.4(CPA1):c.706T>A (p.Trp236Arg)
NM_001868.4(CPA1):c.706T>C (p.Trp236Arg)
NM_001868.4(CPA1):c.710G>T (p.Arg237Leu)
NM_001868.4(CPA1):c.715A>G (p.Thr239Ala)
NM_001868.4(CPA1):c.716C>G (p.Thr239Ser)
NM_001868.4(CPA1):c.716C>T (p.Thr239Ile)
NM_001868.4(CPA1):c.717T>A (p.Thr239=)
NM_001868.4(CPA1):c.718C>G (p.Arg240Gly)
NM_001868.4(CPA1):c.722C>G (p.Ser241Cys)
NM_001868.4(CPA1):c.724C>A (p.His242Asn)
NM_001868.4(CPA1):c.728C>T (p.Thr243Ile)
NM_001868.4(CPA1):c.730G>A (p.Ala244Thr)
NM_001868.4(CPA1):c.731C>T (p.Ala244Val)
NM_001868.4(CPA1):c.734G>A (p.Gly245Asp)
NM_001868.4(CPA1):c.738C>T (p.Ser246=)
NM_001868.4(CPA1):c.739C>G (p.Leu247Val)
NM_001868.4(CPA1):c.739C>T (p.Leu247Phe)
NM_001868.4(CPA1):c.740T>C (p.Leu247Pro)
NM_001868.4(CPA1):c.741C>A (p.Leu247=)
NM_001868.4(CPA1):c.745A>G (p.Ile249Val)
NM_001868.4(CPA1):c.746T>C (p.Ile249Thr)
NM_001868.4(CPA1):c.750C>T (p.Gly250=)
NM_001868.4(CPA1):c.754G>C (p.Asp252His)
NM_001868.4(CPA1):c.756C>A (p.Asp252Glu)
NM_001868.4(CPA1):c.756C>T (p.Asp252=)
NM_001868.4(CPA1):c.759C>A (p.Pro253=)
NM_001868.4(CPA1):c.75G>A (p.Val25=)
NM_001868.4(CPA1):c.75G>C (p.Val25=) rs1277023753
NM_001868.4(CPA1):c.761A>G (p.Asn254Ser)
NM_001868.4(CPA1):c.762C>T (p.Asn254=) rs1554411739
NM_001868.4(CPA1):c.763A>G (p.Arg255Gly)
NM_001868.4(CPA1):c.763A>T (p.Arg255Trp) rs782085292
NM_001868.4(CPA1):c.76C>G (p.Leu26Val)
NM_001868.4(CPA1):c.771G>C (p.Trp257Cys)
NM_001868.4(CPA1):c.774C>A (p.Asp258Glu)
NM_001868.4(CPA1):c.775G>T (p.Ala259Ser) rs369665148
NM_001868.4(CPA1):c.779G>A (p.Gly260Asp) rs1554411743
NM_001868.4(CPA1):c.779G>T (p.Gly260Val)
NM_001868.4(CPA1):c.77T>G (p.Leu26Arg)
NM_001868.4(CPA1):c.786G>A (p.Gly262=)
NM_001868.4(CPA1):c.787+2T>A
NM_001868.4(CPA1):c.788-5C>A rs201705049
NM_001868.4(CPA1):c.788-5C>G rs201705049
NM_001868.4(CPA1):c.789G>A (p.Leu263=)
NM_001868.4(CPA1):c.792C>G (p.Ser264=) rs782313134
NM_001868.4(CPA1):c.794G>A (p.Gly265Glu)
NM_001868.4(CPA1):c.795A>G (p.Gly265=)
NM_001868.4(CPA1):c.798C>T (p.Ala266=)
NM_001868.4(CPA1):c.79C>A (p.Arg27=)
NM_001868.4(CPA1):c.800G>T (p.Ser267Ile)
NM_001868.4(CPA1):c.811T>G (p.Cys271Gly)
NM_001868.4(CPA1):c.814T>G (p.Ser272Ala)
NM_001868.4(CPA1):c.816G>C (p.Ser272=)
NM_001868.4(CPA1):c.817G>A (p.Glu273Lys)
NM_001868.4(CPA1):c.819G>C (p.Glu273Asp)
NM_001868.4(CPA1):c.819G>T (p.Glu273Asp)
NM_001868.4(CPA1):c.821C>T (p.Thr274Ile)
NM_001868.4(CPA1):c.823T>C (p.Tyr275His)
NM_001868.4(CPA1):c.824A>G (p.Tyr275Cys)
NM_001868.4(CPA1):c.828C>T (p.His276=) rs781912694
NM_001868.4(CPA1):c.830G>T (p.Gly277Val)
NM_001868.4(CPA1):c.834G>A (p.Lys278=) rs201936657
NM_001868.4(CPA1):c.834G>C (p.Lys278Asn) rs201936657
NM_001868.4(CPA1):c.834G>T (p.Lys278Asn)
NM_001868.4(CPA1):c.836T>C (p.Phe279Ser)
NM_001868.4(CPA1):c.839C>A (p.Ala280Asp)
NM_001868.4(CPA1):c.839C>T (p.Ala280Val)
NM_001868.4(CPA1):c.840C>G (p.Ala280=)
NM_001868.4(CPA1):c.846C>A (p.Ser282=) rs782496881
NM_001868.4(CPA1):c.846C>T (p.Ser282=)
NM_001868.4(CPA1):c.84C>A (p.Ile28=)
NM_001868.4(CPA1):c.850G>A (p.Val284Met)
NM_001868.4(CPA1):c.851T>C (p.Val284Ala) rs2117505975
NM_001868.4(CPA1):c.852G>A (p.Val284=)
NM_001868.4(CPA1):c.852G>T (p.Val284=)
NM_001868.4(CPA1):c.862T>C (p.Ser288Pro)
NM_001868.4(CPA1):c.864C>T (p.Ser288=)
NM_001868.4(CPA1):c.865A>G (p.Ile289Val) rs782170635
NM_001868.4(CPA1):c.865A>T (p.Ile289Phe)
NM_001868.4(CPA1):c.868G>T (p.Val290Leu)
NM_001868.4(CPA1):c.86C>G (p.Ser29Cys) rs2117499085
NM_001868.4(CPA1):c.870A>G (p.Val290=)
NM_001868.4(CPA1):c.874T>A (p.Phe292Ile)
NM_001868.4(CPA1):c.882G>A (p.Lys294=)
NM_001868.4(CPA1):c.885C>A (p.Asp295Glu)
NM_001868.4(CPA1):c.885C>T (p.Asp295=)
NM_001868.4(CPA1):c.886C>T (p.His296Tyr)
NM_001868.4(CPA1):c.891G>A (p.Gly297=)
NM_001868.4(CPA1):c.895A>C (p.Ile299Leu)
NM_001868.4(CPA1):c.895A>T (p.Ile299Phe)
NM_001868.4(CPA1):c.8G>T (p.Gly3Val)
NM_001868.4(CPA1):c.8_9dup (p.Leu4fs)
NM_001868.4(CPA1):c.900G>A (p.Lys300=)
NM_001868.4(CPA1):c.900G>T (p.Lys300Asn)
NM_001868.4(CPA1):c.905T>C (p.Phe302Ser)
NM_001868.4(CPA1):c.906C>T (p.Phe302=)
NM_001868.4(CPA1):c.915C>T (p.Ile305=)
NM_001868.4(CPA1):c.918C>G (p.His306Gln)
NM_001868.4(CPA1):c.918C>T (p.His306=)
NM_001868.4(CPA1):c.920G>T (p.Ser307Ile)
NM_001868.4(CPA1):c.929A>G (p.Gln310Arg)
NM_001868.4(CPA1):c.92C>T (p.Ala31Val)
NM_001868.4(CPA1):c.930G>A (p.Gln310=)
NM_001868.4(CPA1):c.931C>T (p.Leu311Phe)
NM_001868.4(CPA1):c.933C>A (p.Leu311=)
NM_001868.4(CPA1):c.933C>T (p.Leu311=)
NM_001868.4(CPA1):c.936C>A (p.Leu312=)
NM_001868.4(CPA1):c.938T>C (p.Met313Thr) rs2117506089
NM_001868.4(CPA1):c.939G>A (p.Met313Ile)
NM_001868.4(CPA1):c.93C>G (p.Ala31=) rs565451182
NM_001868.4(CPA1):c.944C>T (p.Pro315Leu)
NM_001868.4(CPA1):c.947A>G (p.Tyr316Cys)
NM_001868.4(CPA1):c.948T>C (p.Tyr316=)
NM_001868.4(CPA1):c.94G>A (p.Asp32Asn)
NM_001868.4(CPA1):c.954_955del (p.Tyr318_Lys319delinsTer)
NM_001868.4(CPA1):c.956A>G (p.Lys319Arg)
NM_001868.4(CPA1):c.958A>G (p.Thr320Ala)
NM_001868.4(CPA1):c.969C>G (p.Val323=)
NM_001868.4(CPA1):c.96T>C (p.Asp32=)
NM_001868.4(CPA1):c.974A>T (p.Asp325Val)
NM_001868.4(CPA1):c.975C>A (p.Asp325Glu)
NM_001868.4(CPA1):c.981T>G (p.Asp327Glu)
NM_001868.4(CPA1):c.983A>C (p.Glu328Ala)
NM_001868.4(CPA1):c.984G>C (p.Glu328Asp)
NM_001868.4(CPA1):c.988-3C>T
NM_001868.4(CPA1):c.989A>T (p.Asp330Val)
NM_001868.4(CPA1):c.999C>T (p.Ser333=)
NM_001868.4(CPA1):c.9G>A (p.Gly3=)
NM_001868.4(CPA1):c.9G>T (p.Gly3=)
NM_002769.4(PRSS1):c.-28_-8del21 rs755789680
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_002769.5(PRSS1):c.-1C>T
NM_002769.5(PRSS1):c.-4C>A
NM_002769.5(PRSS1):c.103G>C (p.Val35Leu) rs1286351441
NM_002769.5(PRSS1):c.103G>T (p.Val35Phe) rs1286351441
NM_002769.5(PRSS1):c.105C>G (p.Val35=)
NM_002769.5(PRSS1):c.108C>T (p.Pro36=)
NM_002769.5(PRSS1):c.112C>A (p.Gln38Lys)
NM_002769.5(PRSS1):c.114G>A (p.Gln38=)
NM_002769.5(PRSS1):c.116T>C (p.Val39Ala) rs397507439
NM_002769.5(PRSS1):c.118T>A (p.Ser40Thr)
NM_002769.5(PRSS1):c.118T>G (p.Ser40Ala)
NM_002769.5(PRSS1):c.119C>A (p.Ser40Tyr) rs768277012
NM_002769.5(PRSS1):c.119C>G (p.Ser40Cys)
NM_002769.5(PRSS1):c.119C>T (p.Ser40Phe)
NM_002769.5(PRSS1):c.120C>T (p.Ser40=)
NM_002769.5(PRSS1):c.123G>A (p.Leu41=)
NM_002769.5(PRSS1):c.123G>C (p.Leu41=)
NM_002769.5(PRSS1):c.125A>G (p.Asn42Ser)
NM_002769.5(PRSS1):c.129T>C (p.Ser43=)
NM_002769.5(PRSS1):c.12C>A (p.Leu4=)
NM_002769.5(PRSS1):c.130G>A (p.Gly44Ser)
NM_002769.5(PRSS1):c.132C>A (p.Gly44=)
NM_002769.5(PRSS1):c.134A>C (p.Tyr45Ser)
NM_002769.5(PRSS1):c.134A>G (p.Tyr45Cys)
NM_002769.5(PRSS1):c.135C>A (p.Tyr45Ter) rs1798623321
NM_002769.5(PRSS1):c.136_138del (p.His46del)
NM_002769.5(PRSS1):c.137A>G (p.His46Arg)
NM_002769.5(PRSS1):c.139T>G (p.Phe47Val)
NM_002769.5(PRSS1):c.13C>T (p.Leu5=)
NM_002769.5(PRSS1):c.141C>T (p.Phe47=)
NM_002769.5(PRSS1):c.144T>C (p.Cys48=)
NM_002769.5(PRSS1):c.146G>T (p.Gly49Val) rs138464021
NM_002769.5(PRSS1):c.150C>T (p.Gly50=)
NM_002769.5(PRSS1):c.152C>A (p.Ser51Tyr)
NM_002769.5(PRSS1):c.153C>T (p.Ser51=) rs1554498506
NM_002769.5(PRSS1):c.154C>G (p.Leu52Val)
NM_002769.5(PRSS1):c.156C>T (p.Leu52=)
NM_002769.5(PRSS1):c.15G>C (p.Leu5=)
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.162C>T (p.Asn54=) rs148440491
NM_002769.5(PRSS1):c.163G>A (p.Glu55Lys) rs1365488828
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter) rs147366981
NM_002769.5(PRSS1):c.167A>G (p.Gln56Arg)
NM_002769.5(PRSS1):c.16A>G (p.Ile6Val)
NM_002769.5(PRSS1):c.16A>T (p.Ile6Phe) rs1585972378
NM_002769.5(PRSS1):c.172G>A (p.Val58Met)
NM_002769.5(PRSS1):c.175G>A (p.Val59Ile)
NM_002769.5(PRSS1):c.177A>G (p.Val59=)
NM_002769.5(PRSS1):c.178T>C (p.Ser60Pro)
NM_002769.5(PRSS1):c.178T>G (p.Ser60Ala)
NM_002769.5(PRSS1):c.185G>T (p.Gly62Val)
NM_002769.5(PRSS1):c.186C>A (p.Gly62=)
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)
NM_002769.5(PRSS1):c.189C>G (p.His63Gln)
NM_002769.5(PRSS1):c.190T>C (p.Cys64Arg)
NM_002769.5(PRSS1):c.190T>G (p.Cys64Gly) rs1798627075
NM_002769.5(PRSS1):c.192C>T (p.Cys64=)
NM_002769.5(PRSS1):c.193T>C (p.Tyr65His)
NM_002769.5(PRSS1):c.195C>T (p.Tyr65=) rs2116960834
NM_002769.5(PRSS1):c.196A>T (p.Lys66Ter)
NM_002769.5(PRSS1):c.197A>G (p.Lys66Arg)
NM_002769.5(PRSS1):c.200+17C>T rs200688125
NM_002769.5(PRSS1):c.200+17_200+18delinsGA rs2116961269
NM_002769.5(PRSS1):c.200+17del
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.200+1G>C
NM_002769.5(PRSS1):c.200+20C>T rs1585979340
NM_002769.5(PRSS1):c.200+6T>C rs763073587
NM_002769.5(PRSS1):c.200+7G>A rs374455072
NM_002769.5(PRSS1):c.201-12C>T
NM_002769.5(PRSS1):c.201-1G>A rs2116976495
NM_002769.5(PRSS1):c.201-8C>A
NM_002769.5(PRSS1):c.201-8C>T rs1397404221
NM_002769.5(PRSS1):c.202C>A (p.Arg68Ser) rs145867820
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys) rs145867820
NM_002769.5(PRSS1):c.203G>A (p.Arg68His) rs757111793
NM_002769.5(PRSS1):c.205A>G (p.Ile69Val)
NM_002769.5(PRSS1):c.206T>A (p.Ile69Asn)
NM_002769.5(PRSS1):c.207C>G (p.Ile69Met) rs1431688642
NM_002769.5(PRSS1):c.215G>C (p.Arg72Thr)
NM_002769.5(PRSS1):c.217C>A (p.Leu73Met)
NM_002769.5(PRSS1):c.217C>T (p.Leu73=)
NM_002769.5(PRSS1):c.220G>A (p.Gly74Arg)
NM_002769.5(PRSS1):c.221dup (p.Glu75fs)
NM_002769.5(PRSS1):c.222A>C (p.Gly74=)
NM_002769.5(PRSS1):c.225G>A (p.Glu75=)
NM_002769.5(PRSS1):c.226C>T (p.His76Tyr)
NM_002769.5(PRSS1):c.228C>A (p.His76Gln)
NM_002769.5(PRSS1):c.228C>G (p.His76Gln)
NM_002769.5(PRSS1):c.22A>G (p.Thr8Ala)
NM_002769.5(PRSS1):c.231C>T (p.Asn77=)
NM_002769.5(PRSS1):c.232A>C (p.Ile78Leu)
NM_002769.5(PRSS1):c.238G>A (p.Val80Ile)
NM_002769.5(PRSS1):c.239T>G (p.Val80Gly) rs1798760073
NM_002769.5(PRSS1):c.23C>T (p.Thr8Ile)
NM_002769.5(PRSS1):c.242T>C (p.Leu81Pro)
NM_002769.5(PRSS1):c.244G>C (p.Glu82Gln)
NM_002769.5(PRSS1):c.246G>A (p.Glu82=)
NM_002769.5(PRSS1):c.246G>T (p.Glu82Asp)
NM_002769.5(PRSS1):c.248G>A (p.Gly83Glu)
NM_002769.5(PRSS1):c.249G>C (p.Gly83=)
NM_002769.5(PRSS1):c.24C>A (p.Thr8=)
NM_002769.5(PRSS1):c.24C>G (p.Thr8=)
NM_002769.5(PRSS1):c.252T>C (p.Asn84=)
NM_002769.5(PRSS1):c.255G>A (p.Glu85=) rs376671702
NM_002769.5(PRSS1):c.256C>A (p.Gln86Lys)
NM_002769.5(PRSS1):c.257A>C (p.Gln86Pro)
NM_002769.5(PRSS1):c.259T>A (p.Phe87Ile)
NM_002769.5(PRSS1):c.261C>T (p.Phe87=)
NM_002769.5(PRSS1):c.263T>C (p.Ile88Thr)
NM_002769.5(PRSS1):c.265A>C (p.Asn89His)
NM_002769.5(PRSS1):c.265A>G (p.Asn89Asp)
NM_002769.5(PRSS1):c.265A>T (p.Asn89Tyr) rs755816580
NM_002769.5(PRSS1):c.266A>G (p.Asn89Ser)
NM_002769.5(PRSS1):c.266A>T (p.Asn89Ile) rs1446407497
NM_002769.5(PRSS1):c.267T>A (p.Asn89Lys)
NM_002769.5(PRSS1):c.267T>C (p.Asn89=) rs779618969
NM_002769.5(PRSS1):c.268G>C (p.Ala90Pro)
NM_002769.5(PRSS1):c.269C>T (p.Ala90Val) rs984312649
NM_002769.5(PRSS1):c.270A>G (p.Ala90=) rs371037592
NM_002769.5(PRSS1):c.272C>T (p.Ala91Val) rs748678217
NM_002769.5(PRSS1):c.275A>T (p.Lys92Met)
NM_002769.5(PRSS1):c.276G>C (p.Lys92Asn)
NM_002769.5(PRSS1):c.27T>C (p.Phe9=)
NM_002769.5(PRSS1):c.282C>G (p.Ile94Met)
NM_002769.5(PRSS1):c.283C>A (p.Arg95Ser)
NM_002769.5(PRSS1):c.283C>G (p.Arg95Gly)
NM_002769.5(PRSS1):c.284G>C (p.Arg95Pro)
NM_002769.5(PRSS1):c.285C>A (p.Arg95=)
NM_002769.5(PRSS1):c.285C>T (p.Arg95=)
NM_002769.5(PRSS1):c.288C>T (p.His96=) rs1209409723
NM_002769.5(PRSS1):c.289C>T (p.Pro97Ser)
NM_002769.5(PRSS1):c.290C>A (p.Pro97His)
NM_002769.5(PRSS1):c.290C>T (p.Pro97Leu)
NM_002769.5(PRSS1):c.291C>A (p.Pro97=)
NM_002769.5(PRSS1):c.291C>T (p.Pro97=)
NM_002769.5(PRSS1):c.292C>G (p.Gln98Glu)
NM_002769.5(PRSS1):c.292_305delinsAAATACAACAGCCG (p.Gln98_Lys102delinsLysTyrAsnSerArg) rs1563261113
NM_002769.5(PRSS1):c.294A>G (p.Gln98=)
NM_002769.5(PRSS1):c.294A>T (p.Gln98His) rs1563261128
NM_002769.5(PRSS1):c.295T>C (p.Tyr99His) rs1798766944
NM_002769.5(PRSS1):c.297C>A (p.Tyr99Ter) rs373659879
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)
NM_002769.5(PRSS1):c.298G>C (p.Asp100His) rs199507985
NM_002769.5(PRSS1):c.298G>T (p.Asp100Tyr)
NM_002769.5(PRSS1):c.2T>G (p.Met1Arg)
NM_002769.5(PRSS1):c.300C>G (p.Asp100Glu)
NM_002769.5(PRSS1):c.300C>T (p.Asp100=) rs753600288
NM_002769.5(PRSS1):c.302G>A (p.Arg101Lys)
NM_002769.5(PRSS1):c.303G>A (p.Arg101=)
NM_002769.5(PRSS1):c.303_305delinsCCG (p.Arg101_Lys102delinsSerArg)
NM_002769.5(PRSS1):c.30G>T (p.Val10=)
NM_002769.5(PRSS1):c.317A>G (p.Asn106Ser)
NM_002769.5(PRSS1):c.318T>A (p.Asn106Lys)
NM_002769.5(PRSS1):c.321C>T (p.Asp107=)
NM_002769.5(PRSS1):c.326T>A (p.Met109Lys)
NM_002769.5(PRSS1):c.326T>C (p.Met109Thr)
NM_002769.5(PRSS1):c.326T>G (p.Met109Arg)
NM_002769.5(PRSS1):c.327G>T (p.Met109Ile)
NM_002769.5(PRSS1):c.32C>G (p.Ala11Gly)
NM_002769.5(PRSS1):c.330A>G (p.Leu110=)
NM_002769.5(PRSS1):c.331A>G (p.Ile111Val)
NM_002769.5(PRSS1):c.332T>A (p.Ile111Asn)
NM_002769.5(PRSS1):c.338T>A (p.Leu113His)
NM_002769.5(PRSS1):c.339C>T (p.Leu113=)
NM_002769.5(PRSS1):c.341C>G (p.Ser114Cys)
NM_002769.5(PRSS1):c.345A>G (p.Ser115=)
NM_002769.5(PRSS1):c.346C>A (p.Arg116Ser)
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.347G>A (p.Arg116His) rs199769221
NM_002769.5(PRSS1):c.347G>C (p.Arg116Pro) rs199769221
NM_002769.5(PRSS1):c.348T>G (p.Arg116=)
NM_002769.5(PRSS1):c.349G>A (p.Ala117Thr)
NM_002769.5(PRSS1):c.349G>T (p.Ala117Ser)
NM_002769.5(PRSS1):c.34G>A (p.Ala12Thr)
NM_002769.5(PRSS1):c.350C>G (p.Ala117Gly)
NM_002769.5(PRSS1):c.350C>T (p.Ala117Val) rs1798772289
NM_002769.5(PRSS1):c.351A>C (p.Ala117=) rs606231346
NM_002769.5(PRSS1):c.352G>A (p.Val118Ile)
NM_002769.5(PRSS1):c.353T>A (p.Val118Glu)
NM_002769.5(PRSS1):c.353T>G (p.Val118Gly)
NM_002769.5(PRSS1):c.354A>C (p.Val118=) rs606231347
NM_002769.5(PRSS1):c.355A>G (p.Ile119Val)
NM_002769.5(PRSS1):c.357C>A (p.Ile119=)
NM_002769.5(PRSS1):c.360C>A (p.Asn120Lys)
NM_002769.5(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.5(PRSS1):c.362C>T (p.Ala121Val) rs1798773882
NM_002769.5(PRSS1):c.363C>T (p.Ala121=)
NM_002769.5(PRSS1):c.365G>C (p.Arg122Pro) rs111033565
NM_002769.5(PRSS1):c.365_366delinsAT (p.Arg122His) rs267606982
NM_002769.5(PRSS1):c.366C>A (p.Arg122=)
NM_002769.5(PRSS1):c.366C>G (p.Arg122=)
NM_002769.5(PRSS1):c.367G>A (p.Val123Met) rs144403091
NM_002769.5(PRSS1):c.367G>C (p.Val123Leu)
NM_002769.5(PRSS1):c.367G>T (p.Val123Leu) rs144403091
NM_002769.5(PRSS1):c.368T>A (p.Val123Glu)
NM_002769.5(PRSS1):c.370T>C (p.Ser124Pro) rs1798775039
NM_002769.5(PRSS1):c.371C>T (p.Ser124Phe)
NM_002769.5(PRSS1):c.372C>G (p.Ser124=)
NM_002769.5(PRSS1):c.372C>T (p.Ser124=)
NM_002769.5(PRSS1):c.373A>G (p.Thr125Ala)
NM_002769.5(PRSS1):c.378C>A (p.Ile126=)
NM_002769.5(PRSS1):c.378C>G (p.Ile126Met)
NM_002769.5(PRSS1):c.378C>T (p.Ile126=)
NM_002769.5(PRSS1):c.380C>T (p.Ser127Phe)
NM_002769.5(PRSS1):c.382_383del (p.Leu128fs)
NM_002769.5(PRSS1):c.383T>C (p.Leu128Pro)
NM_002769.5(PRSS1):c.385C>A (p.Pro129Thr)
NM_002769.5(PRSS1):c.385C>T (p.Pro129Ser)
NM_002769.5(PRSS1):c.386C>G (p.Pro129Arg)
NM_002769.5(PRSS1):c.386C>T (p.Pro129Leu) rs768673799
NM_002769.5(PRSS1):c.388A>G (p.Thr130Ala)
NM_002769.5(PRSS1):c.389C>A (p.Thr130Asn)
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.390C>A (p.Thr130=)
NM_002769.5(PRSS1):c.390C>G (p.Thr130=)
NM_002769.5(PRSS1):c.391G>A (p.Ala131Thr) rs141011596
NM_002769.5(PRSS1):c.392C>A (p.Ala131Asp)
NM_002769.5(PRSS1):c.395C>A (p.Pro132His) rs759452330
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002769.5(PRSS1):c.40+13C>A
NM_002769.5(PRSS1):c.40+15C>G
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_002769.5(PRSS1):c.40+16T>C rs2116945673
NM_002769.5(PRSS1):c.40+3_40+6del rs897784116
NM_002769.5(PRSS1):c.40+40del rs748794481
NM_002769.5(PRSS1):c.40+40dup rs748794481
NM_002769.5(PRSS1):c.400G>T (p.Ala134Ser)
NM_002769.5(PRSS1):c.402C>T (p.Ala134=)
NM_002769.5(PRSS1):c.402_403inv (p.Thr135Ala)
NM_002769.5(PRSS1):c.403A>G (p.Thr135Ala)
NM_002769.5(PRSS1):c.404C>A (p.Thr135Asn)
NM_002769.5(PRSS1):c.406G>A (p.Gly136Ser)
NM_002769.5(PRSS1):c.406G>T (p.Gly136Cys)
NM_002769.5(PRSS1):c.407G>T (p.Gly136Val)
NM_002769.5(PRSS1):c.408C>A (p.Gly136=) rs1585986936
NM_002769.5(PRSS1):c.40C>A (p.Leu14Ile)
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_002769.5(PRSS1):c.40C>T (p.Leu14Phe) rs747228052
NM_002769.5(PRSS1):c.41-14C>A
NM_002769.5(PRSS1):c.41-14C>T rs757743939
NM_002769.5(PRSS1):c.41-49C>T
NM_002769.5(PRSS1):c.41-5del rs1161040461
NM_002769.5(PRSS1):c.411G>A (p.Thr137=) rs369013081
NM_002769.5(PRSS1):c.411G>C (p.Thr137=)
NM_002769.5(PRSS1):c.411G>T (p.Thr137=)
NM_002769.5(PRSS1):c.412A>G (p.Lys138Glu)
NM_002769.5(PRSS1):c.413A>C (p.Lys138Thr)
NM_002769.5(PRSS1):c.413A>G (p.Lys138Arg)
NM_002769.5(PRSS1):c.414G>A (p.Lys138=) rs749482440
NM_002769.5(PRSS1):c.414G>C (p.Lys138Asn)
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser) rs397507440
NM_002769.5(PRSS1):c.419T>A (p.Leu140His)
NM_002769.5(PRSS1):c.420C>T (p.Leu140=)
NM_002769.5(PRSS1):c.424T>C (p.Ser142Pro)
NM_002769.5(PRSS1):c.425C>G (p.Ser142Cys)
NM_002769.5(PRSS1):c.425C>T (p.Ser142Phe)
NM_002769.5(PRSS1):c.426T>C (p.Ser142=)
NM_002769.5(PRSS1):c.428G>T (p.Gly143Val)
NM_002769.5(PRSS1):c.432G>T (p.Trp144Cys)
NM_002769.5(PRSS1):c.435del (p.Asn146fs)
NM_002769.5(PRSS1):c.438C>T (p.Asn146=)
NM_002769.5(PRSS1):c.440C>A (p.Thr147Asn)
NM_002769.5(PRSS1):c.441T>G (p.Thr147=)
NM_002769.5(PRSS1):c.442G>A (p.Ala148Thr)
NM_002769.5(PRSS1):c.442G>C (p.Ala148Pro) rs775290386
NM_002769.5(PRSS1):c.443C>A (p.Ala148Glu)
NM_002769.5(PRSS1):c.443C>T (p.Ala148Val) rs762545562
NM_002769.5(PRSS1):c.444G>A (p.Ala148=) rs11553844
NM_002769.5(PRSS1):c.446G>A (p.Ser149Asn)
NM_002769.5(PRSS1):c.447C>T (p.Ser149=) rs372698855
NM_002769.5(PRSS1):c.44C>T (p.Ala15Val)
NM_002769.5(PRSS1):c.452G>A (p.Gly151Asp)
NM_002769.5(PRSS1):c.452G>T (p.Gly151Val) rs1563261623
NM_002769.5(PRSS1):c.453C>A (p.Gly151=)
NM_002769.5(PRSS1):c.454+13C>T
NM_002769.5(PRSS1):c.454+157C>G rs371236770
NM_002769.5(PRSS1):c.454+16A>G
NM_002769.5(PRSS1):c.454+16A>T rs377570765
NM_002769.5(PRSS1):c.454+36T>C
NM_002769.5(PRSS1):c.454+3G>A
NM_002769.5(PRSS1):c.454+75A>G rs1376416883
NM_002769.5(PRSS1):c.455-14C>T
NM_002769.5(PRSS1):c.456C>A (p.Ala152=)
NM_002769.5(PRSS1):c.457G>C (p.Asp153His) rs61735002
NM_002769.5(PRSS1):c.459C>A (p.Asp153Glu)
NM_002769.5(PRSS1):c.45T>A (p.Ala15=)
NM_002769.5(PRSS1):c.460T>C (p.Tyr154His)
NM_002769.5(PRSS1):c.463C>A (p.Pro155Thr)
NM_002769.5(PRSS1):c.464C>G (p.Pro155Arg)
NM_002769.5(PRSS1):c.467A>G (p.Asp156Gly)
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)
NM_002769.5(PRSS1):c.468C>T (p.Asp156=) rs146076691
NM_002769.5(PRSS1):c.469G>A (p.Glu157Lys) rs200890507
NM_002769.5(PRSS1):c.469G>C (p.Glu157Gln) rs200890507
NM_002769.5(PRSS1):c.470A>G (p.Glu157Gly)
NM_002769.5(PRSS1):c.471G>A (p.Glu157=)
NM_002769.5(PRSS1):c.472C>T (p.Leu158=)
NM_002769.5(PRSS1):c.474G>A (p.Leu158=)
NM_002769.5(PRSS1):c.475C>T (p.Gln159Ter)
NM_002769.5(PRSS1):c.476A>C (p.Gln159Pro)
NM_002769.5(PRSS1):c.476A>G (p.Gln159Arg)
NM_002769.5(PRSS1):c.479G>A (p.Cys160Tyr) rs778796800
NM_002769.5(PRSS1):c.480C>T (p.Cys160=)
NM_002769.5(PRSS1):c.482T>G (p.Leu161Arg)
NM_002769.5(PRSS1):c.483G>A (p.Leu161=)
NM_002769.5(PRSS1):c.484G>A (p.Asp162Asn)
NM_002769.5(PRSS1):c.484G>C (p.Asp162His)
NM_002769.5(PRSS1):c.486T>A (p.Asp162Glu) rs6666
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002769.5(PRSS1):c.486T>G (p.Asp162Glu) rs6666
NM_002769.5(PRSS1):c.486_487inv (p.Ala163Thr)
NM_002769.5(PRSS1):c.487G>C (p.Ala163Pro)
NM_002769.5(PRSS1):c.487G>T (p.Ala163Ser)
NM_002769.5(PRSS1):c.488C>T (p.Ala163Val)
NM_002769.5(PRSS1):c.48C>T (p.Ala16=) rs1585978487
NM_002769.5(PRSS1):c.491del (p.Pro164fs) rs766199324
NM_002769.5(PRSS1):c.492T>A (p.Pro164=)
NM_002769.5(PRSS1):c.493G>A (p.Val165Met)
NM_002769.5(PRSS1):c.498G>A (p.Leu166=)
NM_002769.5(PRSS1):c.498G>C (p.Leu166=)
NM_002769.5(PRSS1):c.499A>G (p.Ser167Gly)
NM_002769.5(PRSS1):c.49C>G (p.Pro17Ala) rs770782578
NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser) rs770782578
NM_002769.5(PRSS1):c.4A>C (p.Asn2His)
NM_002769.5(PRSS1):c.500G>C (p.Ser167Thr) rs1232891794
NM_002769.5(PRSS1):c.502C>A (p.Gln168Lys)
NM_002769.5(PRSS1):c.504G>C (p.Gln168His)
NM_002769.5(PRSS1):c.505G>A (p.Ala169Thr)
NM_002769.5(PRSS1):c.509A>T (p.Lys170Met)
NM_002769.5(PRSS1):c.50C>A (p.Pro17His)
NM_002769.5(PRSS1):c.50C>G (p.Pro17Arg)
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu) rs776401461
NM_002769.5(PRSS1):c.510G>A (p.Lys170=) rs750427023
NM_002769.5(PRSS1):c.510G>C (p.Lys170Asn)
NM_002769.5(PRSS1):c.511T>G (p.Cys171Gly)
NM_002769.5(PRSS1):c.514G>C (p.Glu172Gln)
NM_002769.5(PRSS1):c.516A>C (p.Glu172Asp)
NM_002769.5(PRSS1):c.517G>T (p.Ala173Ser)
NM_002769.5(PRSS1):c.518C>G (p.Ala173Gly)
NM_002769.5(PRSS1):c.518C>T (p.Ala173Val)
NM_002769.5(PRSS1):c.519C>T (p.Ala173=)
NM_002769.5(PRSS1):c.51C>A (p.Pro17=)
NM_002769.5(PRSS1):c.521C>T (p.Ser174Phe)
NM_002769.5(PRSS1):c.522C>T (p.Ser174=)
NM_002769.5(PRSS1):c.523T>A (p.Tyr175Asn) rs756821075
NM_002769.5(PRSS1):c.523T>C (p.Tyr175His)
NM_002769.5(PRSS1):c.525C>T (p.Tyr175=)
NM_002769.5(PRSS1):c.527del (p.Pro176fs)
NM_002769.5(PRSS1):c.52T>C (p.Phe18Leu)
NM_002769.5(PRSS1):c.530G>C (p.Gly177Ala)
NM_002769.5(PRSS1):c.530G>T (p.Gly177Val)
NM_002769.5(PRSS1):c.531A>G (p.Gly177=)
NM_002769.5(PRSS1):c.534G>A (p.Lys178=) rs267601347
NM_002769.5(PRSS1):c.534G>C (p.Lys178Asn)
NM_002769.5(PRSS1):c.535A>C (p.Ile179Leu)
NM_002769.5(PRSS1):c.535A>T (p.Ile179Phe)
NM_002769.5(PRSS1):c.539C>G (p.Thr180Ser)
NM_002769.5(PRSS1):c.540C>A (p.Thr180=)
NM_002769.5(PRSS1):c.540C>T (p.Thr180=) rs769319141
NM_002769.5(PRSS1):c.542G>A (p.Ser181Asn) rs201719096
NM_002769.5(PRSS1):c.546C>G (p.Asn182Lys)
NM_002769.5(PRSS1):c.547A>G (p.Met183Val)
NM_002769.5(PRSS1):c.549G>A (p.Met183Ile)
NM_002769.5(PRSS1):c.54del (p.Phe18fs) rs779352917
NM_002769.5(PRSS1):c.551T>C (p.Phe184Ser)
NM_002769.5(PRSS1):c.552C>A (p.Phe184Leu)
NM_002769.5(PRSS1):c.552C>T (p.Phe184=) rs767583768
NM_002769.5(PRSS1):c.554G>C (p.Cys185Ser)
NM_002769.5(PRSS1):c.556G>A (p.Val186Met)
NM_002769.5(PRSS1):c.559G>A (p.Gly187Ser)
NM_002769.5(PRSS1):c.560G>A (p.Gly187Asp)
NM_002769.5(PRSS1):c.563T>A (p.Phe188Tyr)
NM_002769.5(PRSS1):c.564C>G (p.Phe188Leu) rs1250731677
NM_002769.5(PRSS1):c.565C>T (p.Leu189Phe)
NM_002769.5(PRSS1):c.56A>G (p.Asp19Gly)
NM_002769.5(PRSS1):c.579G>A (p.Lys193=) rs1457186819
NM_002769.5(PRSS1):c.581A>T (p.Asp194Val)
NM_002769.5(PRSS1):c.585A>C (p.Ser195=) rs758274784
NM_002769.5(PRSS1):c.586T>C (p.Cys196Arg)
NM_002769.5(PRSS1):c.586T>G (p.Cys196Gly)
NM_002769.5(PRSS1):c.588T>C (p.Cys196=) rs751264273
NM_002769.5(PRSS1):c.58G>A (p.Asp20Asn) rs774895653
NM_002769.5(PRSS1):c.58G>C (p.Asp20His)
NM_002769.5(PRSS1):c.591+9A>C rs755746222
NM_002769.5(PRSS1):c.592-14C>G
NM_002769.5(PRSS1):c.592-17T>G
NM_002769.5(PRSS1):c.592-1G>C
NM_002769.5(PRSS1):c.592-3dup
NM_002769.5(PRSS1):c.592-4C>G rs375342697
NM_002769.5(PRSS1):c.592-4C>T
NM_002769.5(PRSS1):c.592-7C>T rs1443925968
NM_002769.5(PRSS1):c.592-8C>A rs200381474
NM_002769.5(PRSS1):c.593G>A (p.Gly198Asp)
NM_002769.5(PRSS1):c.593G>T (p.Gly198Val)
NM_002769.5(PRSS1):c.597T>C (p.Asp199=)
NM_002769.5(PRSS1):c.599C>A (p.Ser200Tyr)
NM_002769.5(PRSS1):c.601G>C (p.Gly201Arg)
NM_002769.5(PRSS1):c.602G>T (p.Gly201Val)
NM_002769.5(PRSS1):c.604G>A (p.Gly202Ser)
NM_002769.5(PRSS1):c.604G>T (p.Gly202Cys)
NM_002769.5(PRSS1):c.607C>A (p.Pro203Thr)
NM_002769.5(PRSS1):c.608C>T (p.Pro203Leu)
NM_002769.5(PRSS1):c.609T>A (p.Pro203=)
NM_002769.5(PRSS1):c.60T>C (p.Asp20=) rs1585978558
NM_002769.5(PRSS1):c.610G>A (p.Val204Met) rs1563263032
NM_002769.5(PRSS1):c.610G>C (p.Val204Leu)
NM_002769.5(PRSS1):c.612G>A (p.Val204=)
NM_002769.5(PRSS1):c.613G>A (p.Val205Ile)
NM_002769.5(PRSS1):c.617G>C (p.Cys206Ser) rs150930992
NM_002769.5(PRSS1):c.619A>C (p.Asn207His)
NM_002769.5(PRSS1):c.61G>C (p.Asp21His)
NM_002769.5(PRSS1):c.620A>G (p.Asn207Ser)
NM_002769.5(PRSS1):c.621T>A (p.Asn207Lys)
NM_002769.5(PRSS1):c.622G>A (p.Gly208Arg)
NM_002769.5(PRSS1):c.625C>G (p.Gln209Glu)
NM_002769.5(PRSS1):c.627G>A (p.Gln209=)
NM_002769.5(PRSS1):c.628C>G (p.Leu210Val)
NM_002769.5(PRSS1):c.62A>T (p.Asp21Val)
NM_002769.5(PRSS1):c.630C>T (p.Leu210=)
NM_002769.5(PRSS1):c.633A>G (p.Gln211=)
NM_002769.5(PRSS1):c.635G>C (p.Gly212Ala)
NM_002769.5(PRSS1):c.637G>A (p.Val213Ile) rs200902389
NM_002769.5(PRSS1):c.640G>A (p.Val214Ile)
NM_002769.5(PRSS1):c.640G>T (p.Val214Phe)
NM_002769.5(PRSS1):c.643T>C (p.Ser215Pro)
NM_002769.5(PRSS1):c.647G>T (p.Trp216Leu)
NM_002769.5(PRSS1):c.649G>A (p.Gly217Ser)
NM_002769.5(PRSS1):c.64G>A (p.Asp22Asn) rs1563258794
NM_002769.5(PRSS1):c.651T>C (p.Gly217=) rs562372415
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr) rs1554499629
NM_002769.5(PRSS1):c.652G>A (p.Asp218Asn)
NM_002769.5(PRSS1):c.652G>T (p.Asp218Tyr) rs574391339
NM_002769.5(PRSS1):c.653_655dup (p.Asp218_Gly219insAsp)
NM_002769.5(PRSS1):c.654T>C (p.Asp218=)
NM_002769.5(PRSS1):c.656G>A (p.Gly219Asp)
NM_002769.5(PRSS1):c.657C>A (p.Gly219=)
NM_002769.5(PRSS1):c.657C>G (p.Gly219=)
NM_002769.5(PRSS1):c.659G>A (p.Cys220Tyr)
NM_002769.5(PRSS1):c.662C>T (p.Ala221Val)
NM_002769.5(PRSS1):c.666G>A (p.Gln222=)
NM_002769.5(PRSS1):c.667A>G (p.Lys223Glu)
NM_002769.5(PRSS1):c.669G>A (p.Lys223=)
NM_002769.5(PRSS1):c.669G>C (p.Lys223Asn) rs1439609895
NM_002769.5(PRSS1):c.66C>G (p.Asp22Glu) rs1585978624
NM_002769.5(PRSS1):c.671A>G (p.Asn224Ser)
NM_002769.5(PRSS1):c.672C>G (p.Asn224Lys) rs1184689147
NM_002769.5(PRSS1):c.672C>T (p.Asn224=)
NM_002769.5(PRSS1):c.67A>G (p.Lys23Glu)
NM_002769.5(PRSS1):c.680G>A (p.Gly227Glu)
NM_002769.5(PRSS1):c.680G>C (p.Gly227Ala)
NM_002769.5(PRSS1):c.681A>C (p.Gly227=) rs780015944
NM_002769.5(PRSS1):c.685T>C (p.Tyr229His)
NM_002769.5(PRSS1):c.687C>T (p.Tyr229=)
NM_002769.5(PRSS1):c.688A>T (p.Thr230Ser)
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_002769.5(PRSS1):c.693G>A (p.Lys231=)
NM_002769.5(PRSS1):c.694G>C (p.Val232Leu)
NM_002769.5(PRSS1):c.695T>G (p.Val232Gly)
NM_002769.5(PRSS1):c.698A>G (p.Tyr233Cys)
NM_002769.5(PRSS1):c.699C>T (p.Tyr233=) rs2116990190
NM_002769.5(PRSS1):c.69G>A (p.Lys23=)
NM_002769.5(PRSS1):c.701A>T (p.Asn234Ile)
NM_002769.5(PRSS1):c.705T>C (p.Tyr235=)
NM_002769.5(PRSS1):c.706G>A (p.Val236Met)
NM_002769.5(PRSS1):c.707T>A (p.Val236Glu)
NM_002769.5(PRSS1):c.708G>A (p.Val236=)
NM_002769.5(PRSS1):c.711A>G (p.Lys237=)
NM_002769.5(PRSS1):c.712T>C (p.Trp238Arg)
NM_002769.5(PRSS1):c.718A>G (p.Lys240Glu)
NM_002769.5(PRSS1):c.71T>A (p.Ile24Asn)
NM_002769.5(PRSS1):c.721A>T (p.Asn241Tyr) rs141554682
NM_002769.5(PRSS1):c.725C>G (p.Thr242Ser)
NM_002769.5(PRSS1):c.725C>T (p.Thr242Ile)
NM_002769.5(PRSS1):c.726C>G (p.Thr242=)
NM_002769.5(PRSS1):c.728T>C (p.Ile243Thr) rs1554499664
NM_002769.5(PRSS1):c.72C>A (p.Ile24=)
NM_002769.5(PRSS1):c.72C>T (p.Ile24=) rs372637371
NM_002769.5(PRSS1):c.731C>T (p.Ala244Val)
NM_002769.5(PRSS1):c.734C>T (p.Ala245Val) rs1798882939
NM_002769.5(PRSS1):c.735C>T (p.Ala245=)
NM_002769.5(PRSS1):c.738T>G (p.Asn246Lys)
NM_002769.5(PRSS1):c.739A>G (p.Ser247Gly)
NM_002769.5(PRSS1):c.73G>C (p.Val25Leu)
NM_002769.5(PRSS1):c.73G>T (p.Val25Phe)
NM_002769.5(PRSS1):c.740G>A (p.Ser247Asn) rs1479014593
NM_002769.5(PRSS1):c.740G>T (p.Ser247Ile)
NM_002769.5(PRSS1):c.743A>G (p.Ter248=) rs1798883437
NM_002769.5(PRSS1):c.74T>C (p.Val25Ala)
NM_002769.5(PRSS1):c.75T>G (p.Val25=)
NM_002769.5(PRSS1):c.77G>A (p.Gly26Glu)
NM_002769.5(PRSS1):c.80G>A (p.Gly27Asp) rs1798618982
NM_002769.5(PRSS1):c.82T>G (p.Tyr28Asp) rs1405433158
NM_002769.5(PRSS1):c.84C>T (p.Tyr28=)
NM_002769.5(PRSS1):c.86A>G (p.Asn29Ser)
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002769.5(PRSS1):c.87C>G (p.Asn29Lys) rs747010881
NM_002769.5(PRSS1):c.87C>T (p.Asn29=) rs747010881
NM_002769.5(PRSS1):c.88T>A (p.Cys30Ser)
NM_002769.5(PRSS1):c.91G>A (p.Glu31Lys) rs700323
NM_002769.5(PRSS1):c.91GAG[1] (p.Glu32del) rs1317719683
NM_002769.5(PRSS1):c.92A>T (p.Glu31Val)
NM_002769.5(PRSS1):c.95A>G (p.Glu32Gly)
NM_002769.5(PRSS1):c.96G>C (p.Glu32Asp) rs1253944625
NM_002769.5(PRSS1):c.98A>C (p.Asn33Thr)
NM_002769.5(PRSS1):c.9A>G (p.Pro3=) rs2116945188
NM_003122.5(SPINK1):c.-108G>T rs954248964
NM_003122.5(SPINK1):c.-191-129_56-932del
NM_007272.3(CTRC):c.*28T>G rs1570787748
NM_007272.3(CTRC):c.-1C>T
NM_007272.3(CTRC):c.-2C>T
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.103G>A (p.Asp35Asn)
NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)
NM_007272.3(CTRC):c.108C>T (p.Ala36=)
NM_007272.3(CTRC):c.111G>A (p.Arg37=)
NM_007272.3(CTRC):c.114C>T (p.Pro38=)
NM_007272.3(CTRC):c.118A>C (p.Ser40Arg)
NM_007272.3(CTRC):c.11T>C (p.Ile4Thr)
NM_007272.3(CTRC):c.120C>A (p.Ser40Arg)
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)
NM_007272.3(CTRC):c.129G>T (p.Trp43Cys)
NM_007272.3(CTRC):c.12C>T (p.Ile4=)
NM_007272.3(CTRC):c.130del (p.Gln44fs) rs1344551908
NM_007272.3(CTRC):c.132+15G>A
NM_007272.3(CTRC):c.132+16G>C
NM_007272.3(CTRC):c.132+16G>T
NM_007272.3(CTRC):c.132+20G>A
NM_007272.3(CTRC):c.132G>A (p.Gln44=)
NM_007272.3(CTRC):c.133-15C>T
NM_007272.3(CTRC):c.133-1G>T rs1557508272
NM_007272.3(CTRC):c.134T>A (p.Ile45Asn)
NM_007272.3(CTRC):c.137C>T (p.Ser46Phe)
NM_007272.3(CTRC):c.138C>T (p.Ser46=)
NM_007272.3(CTRC):c.13A>C (p.Thr5Pro)
NM_007272.3(CTRC):c.13A>T (p.Thr5Ser)
NM_007272.3(CTRC):c.144G>A (p.Gln48=)
NM_007272.3(CTRC):c.145T>C (p.Tyr49His) rs78247007
NM_007272.3(CTRC):c.147C>T (p.Tyr49=)
NM_007272.3(CTRC):c.150C>G (p.Leu50=)
NM_007272.3(CTRC):c.150C>T (p.Leu50=)
NM_007272.3(CTRC):c.151A>G (p.Lys51Glu)
NM_007272.3(CTRC):c.157G>A (p.Asp53Asn)
NM_007272.3(CTRC):c.157G>C (p.Asp53His)
NM_007272.3(CTRC):c.162G>A (p.Thr54=)
NM_007272.3(CTRC):c.162G>C (p.Thr54=) rs756090858
NM_007272.3(CTRC):c.162G>T (p.Thr54=)
NM_007272.3(CTRC):c.165G>A (p.Trp55Ter)
NM_007272.3(CTRC):c.168G>A (p.Arg56=)
NM_007272.3(CTRC):c.173C>T (p.Thr58Met)
NM_007272.3(CTRC):c.174G>T (p.Thr58=)
NM_007272.3(CTRC):c.177T>C (p.Cys59=)
NM_007272.3(CTRC):c.178G>A (p.Gly60Ser)
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.180C>T (p.Gly60=) rs497078
NM_007272.3(CTRC):c.190_193del (p.Ile64fs)
NM_007272.3(CTRC):c.192T>A (p.Ile64=)
NM_007272.3(CTRC):c.192T>C (p.Ile64=)
NM_007272.3(CTRC):c.194C>T (p.Ala65Val) rs2103289502
NM_007272.3(CTRC):c.197G>A (p.Ser66Asn)
NM_007272.3(CTRC):c.198C>T (p.Ser66=)
NM_007272.3(CTRC):c.1A>G (p.Met1Val)
NM_007272.3(CTRC):c.204C>T (p.Phe68=)
NM_007272.3(CTRC):c.205G>T (p.Val69Phe)
NM_007272.3(CTRC):c.213T>A (p.Thr71=)
NM_007272.3(CTRC):c.213T>C (p.Thr71=)
NM_007272.3(CTRC):c.215C>T (p.Ala72Val)
NM_007272.3(CTRC):c.217G>T (p.Ala73Ser) rs515726209
NM_007272.3(CTRC):c.21C>A (p.Leu7=)
NM_007272.3(CTRC):c.21C>T (p.Leu7=) rs1279354220
NM_007272.3(CTRC):c.220C>T (p.His74Tyr) rs1557508393
NM_007272.3(CTRC):c.221A>G (p.His74Arg)
NM_007272.3(CTRC):c.224G>A (p.Cys75Tyr)
NM_007272.3(CTRC):c.226A>C (p.Ile76Leu)
NM_007272.3(CTRC):c.226A>G (p.Ile76Val)
NM_007272.3(CTRC):c.230+17C>G
NM_007272.3(CTRC):c.231-11C>A
NM_007272.3(CTRC):c.231-17C>T
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.231-4C>A
NM_007272.3(CTRC):c.238C>T (p.Arg80Trp) rs779643710
NM_007272.3(CTRC):c.239G>A (p.Arg80Gln)
NM_007272.3(CTRC):c.23C>G (p.Ala8Gly)
NM_007272.3(CTRC):c.247C>T (p.Arg83Cys) rs747679121
NM_007272.3(CTRC):c.248G>A (p.Arg83His) rs781768384
NM_007272.3(CTRC):c.248G>T (p.Arg83Leu) rs781768384
NM_007272.3(CTRC):c.249T>C (p.Arg83=) rs1570783555
NM_007272.3(CTRC):c.253G>C (p.Ala85Pro)
NM_007272.3(CTRC):c.255C>A (p.Ala85=)
NM_007272.3(CTRC):c.255C>T (p.Ala85=)
NM_007272.3(CTRC):c.258G>A (p.Val86=)
NM_007272.3(CTRC):c.260G>A (p.Gly87Glu)
NM_007272.3(CTRC):c.262A>G (p.Lys88Glu)
NM_007272.3(CTRC):c.268A>T (p.Asn90Tyr)
NM_007272.3(CTRC):c.26C>A (p.Ala9Glu)
NM_007272.3(CTRC):c.270C>T (p.Asn90=)
NM_007272.3(CTRC):c.271C>A (p.Leu91Met) rs1407562830
NM_007272.3(CTRC):c.272T>C (p.Leu91Pro)
NM_007272.3(CTRC):c.272_273dup (p.Glu92fs)
NM_007272.3(CTRC):c.273G>A (p.Leu91=)
NM_007272.3(CTRC):c.274G>A (p.Glu92Lys)
NM_007272.3(CTRC):c.276G>C (p.Glu92Asp)
NM_007272.3(CTRC):c.277G>A (p.Val93Met)
NM_007272.3(CTRC):c.277G>C (p.Val93Leu)
NM_007272.3(CTRC):c.27G>C (p.Ala9=)
NM_007272.3(CTRC):c.281A>C (p.Glu94Ala)
NM_007272.3(CTRC):c.288A>G (p.Glu96=)
NM_007272.3(CTRC):c.289G>C (p.Glu97Gln)
NM_007272.3(CTRC):c.291A>G (p.Glu97=)
NM_007272.3(CTRC):c.293G>T (p.Gly98Val)
NM_007272.3(CTRC):c.295T>A (p.Ser99Thr)
NM_007272.3(CTRC):c.298C>T (p.Leu100=)
NM_007272.3(CTRC):c.299T>C (p.Leu100Pro)
NM_007272.3(CTRC):c.29T>C (p.Leu10Pro)
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)
NM_007272.3(CTRC):c.302T>C (p.Phe101Ser)
NM_007272.3(CTRC):c.304G>T (p.Val102Leu)
NM_007272.3(CTRC):c.307G>A (p.Gly103Ser)
NM_007272.3(CTRC):c.308G>T (p.Gly103Val)
NM_007272.3(CTRC):c.308del (p.Gly103fs) rs773119534
NM_007272.3(CTRC):c.30C>G (p.Leu10=)
NM_007272.3(CTRC):c.316A>G (p.Thr106Ala)
NM_007272.3(CTRC):c.317C>T (p.Thr106Ile)
NM_007272.3(CTRC):c.318C>T (p.Thr106=)
NM_007272.3(CTRC):c.31T>C (p.Leu11=)
NM_007272.3(CTRC):c.322C>T (p.His108Tyr)
NM_007272.3(CTRC):c.324C>A (p.His108Gln)
NM_007272.3(CTRC):c.328del (p.His110fs)
NM_007272.3(CTRC):c.329A>G (p.His110Arg)
NM_007272.3(CTRC):c.330C>G (p.His110Gln)
NM_007272.3(CTRC):c.331A>G (p.Lys111Glu)
NM_007272.3(CTRC):c.335G>A (p.Arg112Lys)
NM_007272.3(CTRC):c.336A>T (p.Arg112Ser)
NM_007272.3(CTRC):c.33G>A (p.Leu11=)
NM_007272.3(CTRC):c.33G>C (p.Leu11Phe)
NM_007272.3(CTRC):c.341A>G (p.Asn114Ser)
NM_007272.3(CTRC):c.342T>A (p.Asn114Lys)
NM_007272.3(CTRC):c.343G>A (p.Ala115Thr)
NM_007272.3(CTRC):c.344C>T (p.Ala115Val)
NM_007272.3(CTRC):c.347T>C (p.Leu116Pro)
NM_007272.3(CTRC):c.351G>A (p.Leu117=)
NM_007272.3(CTRC):c.353T>G (p.Leu118Trp)
NM_007272.3(CTRC):c.355C>G (p.Arg119Gly)
NM_007272.3(CTRC):c.356+17C>T
NM_007272.3(CTRC):c.357-3C>T
NM_007272.3(CTRC):c.360T>C (p.Asn120=)
NM_007272.3(CTRC):c.362A>G (p.Asp121Gly)
NM_007272.3(CTRC):c.363T>C (p.Asp121=)
NM_007272.3(CTRC):c.365T>C (p.Ile122Thr)
NM_007272.3(CTRC):c.366T>C (p.Ile122=)
NM_007272.3(CTRC):c.368C>T (p.Ala123Val)
NM_007272.3(CTRC):c.369C>G (p.Ala123=)
NM_007272.3(CTRC):c.370C>T (p.Leu124Phe)
NM_007272.3(CTRC):c.371T>A (p.Leu124His)
NM_007272.3(CTRC):c.371T>G (p.Leu124Arg)
NM_007272.3(CTRC):c.372C>T (p.Leu124=)
NM_007272.3(CTRC):c.376A>T (p.Lys126Ter)
NM_007272.3(CTRC):c.379C>T (p.Leu127Phe)
NM_007272.3(CTRC):c.382G>A (p.Ala128Thr)
NM_007272.3(CTRC):c.387G>A (p.Glu129=)
NM_007272.3(CTRC):c.396G>A (p.Glu132=)
NM_007272.3(CTRC):c.397C>T (p.Leu133=)
NM_007272.3(CTRC):c.40+14T>C
NM_007272.3(CTRC):c.40+6C>T
NM_007272.3(CTRC):c.403G>A (p.Asp135Asn)
NM_007272.3(CTRC):c.405C>G (p.Asp135Glu)
NM_007272.3(CTRC):c.406A>G (p.Thr136Ala)
NM_007272.3(CTRC):c.407C>T (p.Thr136Ile) rs1302946061
NM_007272.3(CTRC):c.409A>C (p.Ile137Leu) rs2103291436
NM_007272.3(CTRC):c.41-11T>C
NM_007272.3(CTRC):c.411C>A (p.Ile137=)
NM_007272.3(CTRC):c.411C>T (p.Ile137=)
NM_007272.3(CTRC):c.423C>T (p.Cys141=)
NM_007272.3(CTRC):c.426G>T (p.Leu142=)
NM_007272.3(CTRC):c.429A>T (p.Pro143=)
NM_007272.3(CTRC):c.434A>G (p.Lys145Arg)
NM_007272.3(CTRC):c.436G>A (p.Asp146Asn)
NM_007272.3(CTRC):c.437A>T (p.Asp146Val)
NM_007272.3(CTRC):c.437del (p.Asp146fs)
NM_007272.3(CTRC):c.440C>G (p.Ser147Cys)
NM_007272.3(CTRC):c.442C>T (p.Leu148=)
NM_007272.3(CTRC):c.443T>A (p.Leu148Gln)
NM_007272.3(CTRC):c.445C>T (p.Leu149Phe)
NM_007272.3(CTRC):c.447C>T (p.Leu149=)
NM_007272.3(CTRC):c.449C>T (p.Pro150Leu)
NM_007272.3(CTRC):c.450C>T (p.Pro150=)
NM_007272.3(CTRC):c.452A>G (p.Lys151Arg)
NM_007272.3(CTRC):c.453G>T (p.Lys151Asn)
NM_007272.3(CTRC):c.455A>C (p.Asp152Ala)
NM_007272.3(CTRC):c.459C>T (p.Tyr153=)
NM_007272.3(CTRC):c.460C>G (p.Pro154Ala)
NM_007272.3(CTRC):c.462C>A (p.Pro154=)
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)
NM_007272.3(CTRC):c.465C>T (p.Cys155=)
NM_007272.3(CTRC):c.466T>C (p.Tyr156His)
NM_007272.3(CTRC):c.475G>A (p.Gly159Ser)
NM_007272.3(CTRC):c.477C>T (p.Gly159=)
NM_007272.3(CTRC):c.47G>T (p.Ser16Ile)
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
NM_007272.3(CTRC):c.483C>T (p.Gly161=)
NM_007272.3(CTRC):c.48C>G (p.Ser16Arg)
NM_007272.3(CTRC):c.48C>T (p.Ser16=)
NM_007272.3(CTRC):c.490T>C (p.Trp164Arg)
NM_007272.3(CTRC):c.490_491del (p.Trp164fs) rs2103291536
NM_007272.3(CTRC):c.491G>C (p.Trp164Ser)
NM_007272.3(CTRC):c.492G>T (p.Trp164Cys)
NM_007272.3(CTRC):c.493+2T>C
NM_007272.3(CTRC):c.493+3_493+6del
NM_007272.3(CTRC):c.494-19C>G
NM_007272.3(CTRC):c.494-1G>A
NM_007272.3(CTRC):c.494-2A>G rs1708187577
NM_007272.3(CTRC):c.496A>C (p.Asn166His)
NM_007272.3(CTRC):c.497A>G (p.Asn166Ser)
NM_007272.3(CTRC):c.498C>T (p.Asn166=)
NM_007272.3(CTRC):c.499G>A (p.Gly167Ser) rs141205711
NM_007272.3(CTRC):c.499G>C (p.Gly167Arg) rs141205711
NM_007272.3(CTRC):c.502C>G (p.Pro168Ala)
NM_007272.3(CTRC):c.506T>C (p.Ile169Thr)
NM_007272.3(CTRC):c.510T>C (p.Ala170=)
NM_007272.3(CTRC):c.516G>A (p.Lys172=)
NM_007272.3(CTRC):c.519G>A (p.Leu173=)
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)
NM_007272.3(CTRC):c.521A>G (p.Gln174Arg)
NM_007272.3(CTRC):c.522G>C (p.Gln174His) rs2103292282
NM_007272.3(CTRC):c.525G>A (p.Gln175=)
NM_007272.3(CTRC):c.527G>A (p.Gly176Asp)
NM_007272.3(CTRC):c.528C>T (p.Gly176=)
NM_007272.3(CTRC):c.531G>T (p.Leu177=)
NM_007272.3(CTRC):c.532C>G (p.Gln178Glu)
NM_007272.3(CTRC):c.537C>G (p.Pro179=)
NM_007272.3(CTRC):c.537C>T (p.Pro179=)
NM_007272.3(CTRC):c.539T>C (p.Val180Ala)
NM_007272.3(CTRC):c.540G>C (p.Val180=)
NM_007272.3(CTRC):c.546T>C (p.Asp182=)
NM_007272.3(CTRC):c.54G>A (p.Gly18=)
NM_007272.3(CTRC):c.551C>G (p.Ala184Gly)
NM_007272.3(CTRC):c.551C>T (p.Ala184Val)
NM_007272.3(CTRC):c.552C>G (p.Ala184=) rs888159659
NM_007272.3(CTRC):c.554C>T (p.Thr185Met)
NM_007272.3(CTRC):c.55G>A (p.Val19Met)
NM_007272.3(CTRC):c.55G>T (p.Val19Leu)
NM_007272.3(CTRC):c.560C>G (p.Ser187Cys) rs1355039968
NM_007272.3(CTRC):c.562A>C (p.Arg188=)
NM_007272.3(CTRC):c.566T>C (p.Ile189Thr)
NM_007272.3(CTRC):c.56T>C (p.Val19Ala)
NM_007272.3(CTRC):c.574T>A (p.Trp192Arg)
NM_007272.3(CTRC):c.576_588del (p.Trp191_Trp192insTer)
NM_007272.3(CTRC):c.577G>T (p.Gly193Cys)
NM_007272.3(CTRC):c.578G>A (p.Gly193Asp)
NM_007272.3(CTRC):c.57dup (p.Pro20fs)
NM_007272.3(CTRC):c.582C>T (p.Phe194=)
NM_007272.3(CTRC):c.583A>G (p.Arg195Gly) rs1708189840
NM_007272.3(CTRC):c.584G>C (p.Arg195Thr)
NM_007272.3(CTRC):c.585G>A (p.Arg195=)
NM_007272.3(CTRC):c.594A>G (p.Lys198=)
NM_007272.3(CTRC):c.595A>C (p.Thr199Pro)
NM_007272.3(CTRC):c.595A>G (p.Thr199Ala)
NM_007272.3(CTRC):c.598A>G (p.Met200Val)
NM_007272.3(CTRC):c.5T>G (p.Leu2Trp)
NM_007272.3(CTRC):c.600G>C (p.Met200Ile)
NM_007272.3(CTRC):c.602T>A (p.Val201Glu)
NM_007272.3(CTRC):c.602T>C (p.Val201Ala)
NM_007272.3(CTRC):c.614G>A (p.Gly205Asp)
NM_007272.3(CTRC):c.615C>T (p.Gly205=) rs756236720
NM_007272.3(CTRC):c.618T>C (p.Asp206=)
NM_007272.3(CTRC):c.621C>T (p.Gly207=)
NM_007272.3(CTRC):c.622G>A (p.Val208Ile)
NM_007272.3(CTRC):c.625A>G (p.Ile209Val)
NM_007272.3(CTRC):c.625A>T (p.Ile209Phe)
NM_007272.3(CTRC):c.627dup (p.Ser210fs)
NM_007272.3(CTRC):c.628T>C (p.Ser210Pro) rs1570785775
NM_007272.3(CTRC):c.633C>T (p.Ala211=)
NM_007272.3(CTRC):c.635G>A (p.Cys212Tyr)
NM_007272.3(CTRC):c.636C>T (p.Cys212=)
NM_007272.3(CTRC):c.638A>G (p.Asn213Ser) rs886045375
NM_007272.3(CTRC):c.639+13G>A
NM_007272.3(CTRC):c.639+2T>A
NM_007272.3(CTRC):c.63C>T (p.Ser21=)
NM_007272.3(CTRC):c.640-11G>T
NM_007272.3(CTRC):c.640-34del rs373970317
NM_007272.3(CTRC):c.640-40G>C rs191025876
NM_007272.3(CTRC):c.640-40G>T rs191025876
NM_007272.3(CTRC):c.640-41G>T rs186735838
NM_007272.3(CTRC):c.640-42G>C rs199897030
NM_007272.3(CTRC):c.640-6G>A
NM_007272.3(CTRC):c.642G>A (p.Gly214=) rs1265655451
NM_007272.3(CTRC):c.643G>A (p.Asp215Asn) rs1708203951
NM_007272.3(CTRC):c.645C>A (p.Asp215Glu)
NM_007272.3(CTRC):c.647C>T (p.Ser216Phe)
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007272.3(CTRC):c.64T>C (p.Phe22Leu)
NM_007272.3(CTRC):c.653G>A (p.Gly218Asp)
NM_007272.3(CTRC):c.654C>T (p.Gly218=)
NM_007272.3(CTRC):c.656C>T (p.Pro219Leu)
NM_007272.3(CTRC):c.660G>A (p.Leu220=)
NM_007272.3(CTRC):c.660G>C (p.Leu220=)
NM_007272.3(CTRC):c.664T>C (p.Cys222Arg) rs1570786538
NM_007272.3(CTRC):c.666C>T (p.Cys222=)
NM_007272.3(CTRC):c.667C>G (p.Gln223Glu)
NM_007272.3(CTRC):c.668A>G (p.Gln223Arg)
NM_007272.3(CTRC):c.669G>A (p.Gln223=)
NM_007272.3(CTRC):c.669G>C (p.Gln223His) rs752651686
NM_007272.3(CTRC):c.66C>T (p.Phe22=)
NM_007272.3(CTRC):c.670T>C (p.Leu224=)
NM_007272.3(CTRC):c.672G>A (p.Leu224=) rs2103293066
NM_007272.3(CTRC):c.672G>T (p.Leu224Phe)
NM_007272.3(CTRC):c.675G>A (p.Glu225=)
NM_007272.3(CTRC):c.681T>A (p.Gly227=) rs1389820334
NM_007272.3(CTRC):c.681T>C (p.Gly227=)
NM_007272.3(CTRC):c.683C>A (p.Ser228Tyr)
NM_007272.3(CTRC):c.688G>A (p.Glu230Lys)
NM_007272.3(CTRC):c.698G>A (p.Gly233Asp)
NM_007272.3(CTRC):c.69G>T (p.Pro23=)
NM_007272.3(CTRC):c.6G>A (p.Leu2=)
NM_007272.3(CTRC):c.700A>G (p.Ile234Val)
NM_007272.3(CTRC):c.702C>T (p.Ile234=)
NM_007272.3(CTRC):c.705C>T (p.Val235=)
NM_007272.3(CTRC):c.707G>C (p.Ser236Thr)
NM_007272.3(CTRC):c.714C>G (p.Gly238=)
NM_007272.3(CTRC):c.716C>T (p.Ser239Phe) rs1708205861
NM_007272.3(CTRC):c.717C>T (p.Ser239=)
NM_007272.3(CTRC):c.718C>T (p.Arg240Trp)
NM_007272.3(CTRC):c.721C>A (p.Arg241=)
NM_007272.3(CTRC):c.721C>G (p.Arg241Gly)
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
NM_007272.3(CTRC):c.722G>T (p.Arg241Leu)
NM_007272.3(CTRC):c.725G>A (p.Gly242Asp)
NM_007272.3(CTRC):c.72C>T (p.Pro24=)
NM_007272.3(CTRC):c.735C>T (p.Thr245=)
NM_007272.3(CTRC):c.736C>G (p.Arg246Gly)
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.738C>A (p.Arg246=)
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007272.3(CTRC):c.73A>G (p.Asn25Asp)
NM_007272.3(CTRC):c.742A>G (p.Lys248Glu)
NM_007272.3(CTRC):c.744G>A (p.Lys248=)
NM_007272.3(CTRC):c.745C>T (p.Pro249Ser)
NM_007272.3(CTRC):c.747G>T (p.Pro249=) rs150078209
NM_007272.3(CTRC):c.750A>T (p.Val250=)
NM_007272.3(CTRC):c.753C>A (p.Val251=)
NM_007272.3(CTRC):c.753C>G (p.Val251=)
NM_007272.3(CTRC):c.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu)
NM_007272.3(CTRC):c.756C>T (p.Tyr252=)
NM_007272.3(CTRC):c.757A>G (p.Thr253Ala)
NM_007272.3(CTRC):c.758C>A (p.Thr253Asn)
NM_007272.3(CTRC):c.758C>T (p.Thr253Ile) rs780783336
NM_007272.3(CTRC):c.761G>A (p.Arg254Gln) rs755811899
NM_007272.3(CTRC):c.761G>C (p.Arg254Pro) rs755811899
NM_007272.3(CTRC):c.762G>A (p.Arg254=)
NM_007272.3(CTRC):c.762G>C (p.Arg254=)
NM_007272.3(CTRC):c.763G>A (p.Val255Met)
NM_007272.3(CTRC):c.763G>C (p.Val255Leu)
NM_007272.3(CTRC):c.764T>G (p.Val255Gly)
NM_007272.3(CTRC):c.765G>A (p.Val255=) rs1570786781
NM_007272.3(CTRC):c.76C>T (p.Leu26=)
NM_007272.3(CTRC):c.774C>T (p.Tyr258=)
NM_007272.3(CTRC):c.776T>C (p.Ile259Thr)
NM_007272.3(CTRC):c.778G>T (p.Asp260Tyr) rs540753875
NM_007272.3(CTRC):c.779A>G (p.Asp260Gly)
NM_007272.3(CTRC):c.77T>C (p.Leu26Pro)
NM_007272.3(CTRC):c.781T>C (p.Trp261Arg)
NM_007272.3(CTRC):c.783G>A (p.Trp261Ter)
NM_007272.3(CTRC):c.783G>T (p.Trp261Cys)
NM_007272.3(CTRC):c.788A>C (p.Asn263Thr)
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser) rs769975164
NM_007272.3(CTRC):c.78A>G (p.Leu26=)
NM_007272.3(CTRC):c.790G>A (p.Glu264Lys)
NM_007272.3(CTRC):c.790G>C (p.Glu264Gln)
NM_007272.3(CTRC):c.791A>G (p.Glu264Gly)
NM_007272.3(CTRC):c.792+10G>A rs1301778392
NM_007272.3(CTRC):c.792+13T>A
NM_007272.3(CTRC):c.792+19G>A
NM_007272.3(CTRC):c.793-18T>A rs1708224385
NM_007272.3(CTRC):c.797T>G (p.Met266Arg) rs1708224626
NM_007272.3(CTRC):c.798G>C (p.Met266Ile)
NM_007272.3(CTRC):c.7G>T (p.Gly3Cys)
NM_007272.3(CTRC):c.800A>G (p.Gln267Arg)
NM_007272.3(CTRC):c.801G>A (p.Gln267=)
NM_007272.3(CTRC):c.803T>A (p.Leu268Gln) rs886045376
NM_007272.3(CTRC):c.804G>C (p.Leu268=)
NM_007272.3(CTRC):c.805T>C (p.Ter269Arg) rs1570787652
NM_007272.3(CTRC):c.82G>T (p.Ala28Ser)
NM_007272.3(CTRC):c.83C>T (p.Ala28Val)
NM_007272.3(CTRC):c.86G>C (p.Arg29Pro)
NM_007272.3(CTRC):c.86G>T (p.Arg29Leu) rs772024986
NM_007272.3(CTRC):c.89T>C (p.Val30Ala)
NM_007272.3(CTRC):c.8G>A (p.Gly3Asp)
NM_007272.3(CTRC):c.95G>A (p.Gly32Glu)
NM_016103.4(SAR1B):c.344T>C (p.Leu115Pro) rs2150050070
NM_018646.6(TRPV6):c.1168C>T (p.Arg390Cys)
NP_002760.1(PRSS1):p.Cys139Ser
PRSS1, TRIPLICATION
Single allele

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