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=)
|
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NM_007272.3(CTRC):c.539T>C (p.Val180Ala)
|
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NM_007272.3(CTRC):c.540G>C (p.Val180=)
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NM_007272.3(CTRC):c.546T>C (p.Asp182=)
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NM_007272.3(CTRC):c.54G>A (p.Gly18=)
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NM_007272.3(CTRC):c.551C>G (p.Ala184Gly)
|
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NM_007272.3(CTRC):c.551C>T (p.Ala184Val)
|
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NM_007272.3(CTRC):c.552C>G (p.Ala184=)
|
rs888159659
|
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NM_007272.3(CTRC):c.554C>T (p.Thr185Met)
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NM_007272.3(CTRC):c.55G>A (p.Val19Met)
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NM_007272.3(CTRC):c.55G>T (p.Val19Leu)
|
|
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NM_007272.3(CTRC):c.560C>G (p.Ser187Cys)
|
rs1355039968
|
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NM_007272.3(CTRC):c.562A>C (p.Arg188=)
|
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NM_007272.3(CTRC):c.566T>C (p.Ile189Thr)
|
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NM_007272.3(CTRC):c.56T>C (p.Val19Ala)
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NM_007272.3(CTRC):c.574T>A (p.Trp192Arg)
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NM_007272.3(CTRC):c.576_588del (p.Trp191_Trp192insTer)
|
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NM_007272.3(CTRC):c.577G>T (p.Gly193Cys)
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NM_007272.3(CTRC):c.578G>A (p.Gly193Asp)
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NM_007272.3(CTRC):c.57dup (p.Pro20fs)
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NM_007272.3(CTRC):c.582C>T (p.Phe194=)
|
|
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NM_007272.3(CTRC):c.583A>G (p.Arg195Gly)
|
rs1708189840
|
|
NM_007272.3(CTRC):c.584G>C (p.Arg195Thr)
|
|
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NM_007272.3(CTRC):c.585G>A (p.Arg195=)
|
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NM_007272.3(CTRC):c.594A>G (p.Lys198=)
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NM_007272.3(CTRC):c.595A>C (p.Thr199Pro)
|
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NM_007272.3(CTRC):c.595A>G (p.Thr199Ala)
|
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NM_007272.3(CTRC):c.598A>G (p.Met200Val)
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NM_007272.3(CTRC):c.5T>G (p.Leu2Trp)
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NM_007272.3(CTRC):c.600G>C (p.Met200Ile)
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NM_007272.3(CTRC):c.602T>A (p.Val201Glu)
|
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NM_007272.3(CTRC):c.602T>C (p.Val201Ala)
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NM_007272.3(CTRC):c.614G>A (p.Gly205Asp)
|
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NM_007272.3(CTRC):c.615C>T (p.Gly205=)
|
rs756236720
|
|
NM_007272.3(CTRC):c.618T>C (p.Asp206=)
|
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NM_007272.3(CTRC):c.621C>T (p.Gly207=)
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NM_007272.3(CTRC):c.622G>A (p.Val208Ile)
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NM_007272.3(CTRC):c.625A>G (p.Ile209Val)
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NM_007272.3(CTRC):c.625A>T (p.Ile209Phe)
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|
|
NM_007272.3(CTRC):c.627dup (p.Ser210fs)
|
|
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NM_007272.3(CTRC):c.628T>C (p.Ser210Pro)
|
rs1570785775
|
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NM_007272.3(CTRC):c.633C>T (p.Ala211=)
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|
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NM_007272.3(CTRC):c.635G>A (p.Cys212Tyr)
|
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NM_007272.3(CTRC):c.636C>T (p.Cys212=)
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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
|
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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
|
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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
|
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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
|
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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)
|
|
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NM_007272.3(CTRC):c.654C>T (p.Gly218=)
|
|
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NM_007272.3(CTRC):c.656C>T (p.Pro219Leu)
|
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NM_007272.3(CTRC):c.660G>A (p.Leu220=)
|
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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
|
|
|