NC_000007.14:g.142749281A>C
|
rs4726576
|
0.56847
|
NM_002769.5(PRSS1):c.738T>C (p.Asn246=)
|
rs6667
|
0.53816
|
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=)
|
rs35737774
|
0.04434
|
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_001379610.1(SPINK1):c.194+184T>A
|
rs114094661
|
0.01063
|
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_002769.5(PRSS1):c.279C>T (p.Ile93=)
|
rs139664510
|
0.00489
|
NM_002769.5(PRSS1):c.567T>C (p.Leu189=)
|
rs377124851
|
0.00444
|
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_001379610.1(SPINK1):c.88-23A>T
|
rs199929811
|
0.00219
|
NM_007272.3(CTRC):c.640-12G>A
|
rs183053579
|
0.00194
|
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_007272.3(CTRC):c.555G>A (p.Thr185=)
|
rs113087202
|
0.00097
|
NM_007272.3(CTRC):c.494-6C>T
|
rs111790169
|
0.00096
|
NM_003122.5(SPINK1):c.-147A>G
|
rs779832256
|
0.00075
|
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_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)
|
rs141634296
|
0.00055
|
NM_001379610.1(SPINK1):c.-22C>T
|
rs190219062
|
0.00051
|
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)
|
rs147454311
|
0.00048
|
NM_007272.3(CTRC):c.231-14C>T
|
rs374364850
|
0.00046
|
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_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_007272.3(CTRC):c.746C>T (p.Pro249Leu)
|
rs142560329
|
0.00022
|
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_001379610.1(SPINK1):c.-53C>T
|
rs367798627
|
0.00019
|
NM_007272.3(CTRC):c.216C>T (p.Ala72=)
|
rs140059353
|
0.00019
|
NM_002769.5(PRSS1):c.453C>T (p.Gly151=)
|
rs147765409
|
0.00018
|
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_002769.5(PRSS1):c.642C>A (p.Val214=)
|
rs141697925
|
0.00015
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
0.00012
|
NM_007272.3(CTRC):c.747G>A (p.Pro249=)
|
rs150078209
|
0.00012
|
NM_001379610.1(SPINK1):c.192T>C (p.Asn64=)
|
rs765307896
|
0.00011
|
NM_002769.5(PRSS1):c.243G>C (p.Leu81=)
|
rs142476093
|
0.00011
|
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_002769.5(PRSS1):c.40+1G>A
|
rs149125789
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
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_002769.5(PRSS1):c.284G>A (p.Arg95His)
|
rs375820192
|
0.00008
|
NM_007272.3(CTRC):c.40+10G>A
|
rs564455614
|
0.00008
|
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_001379610.1(SPINK1):c.110A>G (p.Asn37Ser)
|
rs200142833
|
0.00006
|
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr)
|
rs373011963
|
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_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_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_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.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_001379610.1(SPINK1):c.56-15C>T
|
rs1172632130
|
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.84C>T (p.Ala28=)
|
rs779009847
|
0.00003
|
NM_001379610.1(SPINK1):c.27del (p.Ser10fs)
|
rs193922659
|
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.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_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_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.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.529G>A (p.Gly177Arg)
|
rs1240508430
|
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.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.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+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+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.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.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_000007.14:g.(?_142749147)_(142753020_?)dup
|
|
|
NC_000007.14:g.(?_142749281)_(142753040_?)del
|
|
|
NC_000007.14:g.(?_142749475)_(142753030_?)dup
|
|
|
NC_000007.14:g.142749147T>G
|
|
|
NM_001379610.1(SPINK1):c.114A>G (p.Gly38=)
|
rs1561605325
|
|
NM_001379610.1(SPINK1):c.127T>C (p.Tyr43His)
|
rs2127133850
|
|
NM_001379610.1(SPINK1):c.129_131dup (p.Asp44dup)
|
rs878854607
|
|
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp)
|
rs1379675813
|
|
NM_001379610.1(SPINK1):c.162T>C (p.Tyr54=)
|
|
|
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.182del (p.Cys61fs)
|
|
|
NM_001379610.1(SPINK1):c.186T>C (p.Phe62=)
|
|
|
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.204G>A (p.Gln68=)
|
|
|
NM_001379610.1(SPINK1):c.210T>C (p.Ser70=)
|
|
|
NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro)
|
rs749558779
|
|
NM_001379610.1(SPINK1):c.216C>T (p.Leu72=)
|
|
|
NM_001379610.1(SPINK1):c.29G>A (p.Ser10Asn)
|
|
|
NM_001379610.1(SPINK1):c.55+11C>A
|
|
|
NM_001379610.1(SPINK1):c.55+5G>A
|
rs879076423
|
|
NM_001379610.1(SPINK1):c.56-19A>G
|
|
|
NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)
|
|
|
NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)
|
|
|
NM_001379610.1(SPINK1):c.75C>G (p.Ser25=)
|
|
|
NM_001379610.1(SPINK1):c.87+10T>C
|
rs955053963
|
|
NM_001379610.1(SPINK1):c.87+18A>G
|
|
|
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_002769.4(PRSS1):c.-30_-28delTCC
|
rs386134264
|
|
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.112C>A (p.Gln38Lys)
|
|
|
NM_002769.5(PRSS1):c.116T>C (p.Val39Ala)
|
rs397507439
|
|
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.136_138del (p.His46del)
|
|
|
NM_002769.5(PRSS1):c.146G>T (p.Gly49Val)
|
rs138464021
|
|
NM_002769.5(PRSS1):c.153C>T (p.Ser51=)
|
rs1554498506
|
|
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.16A>T (p.Ile6Phe)
|
rs1585972378
|
|
NM_002769.5(PRSS1):c.172G>A (p.Val58Met)
|
|
|
NM_002769.5(PRSS1):c.177A>G (p.Val59=)
|
|
|
NM_002769.5(PRSS1):c.178T>C (p.Ser60Pro)
|
|
|
NM_002769.5(PRSS1):c.185G>T (p.Gly62Val)
|
|
|
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)
|
|
|
NM_002769.5(PRSS1):c.190T>G (p.Cys64Gly)
|
rs1798627075
|
|
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.207C>G (p.Ile69Met)
|
rs1431688642
|
|
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.248G>A (p.Gly83Glu)
|
|
|
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.266A>T (p.Asn89Ile)
|
rs1446407497
|
|
NM_002769.5(PRSS1):c.267T>C (p.Asn89=)
|
rs779618969
|
|
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.276G>C (p.Lys92Asn)
|
|
|
NM_002769.5(PRSS1):c.283C>A (p.Arg95Ser)
|
|
|
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.291C>T (p.Pro97=)
|
|
|
NM_002769.5(PRSS1):c.292_305delinsAAATACAACAGCCG (p.Gln98_Lys102delinsLysTyrAsnSerArg)
|
rs1563261113
|
|
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>T (p.Asp100=)
|
rs753600288
|
|
NM_002769.5(PRSS1):c.338T>A (p.Leu113His)
|
|
|
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.350C>G (p.Ala117Gly)
|
|
|
NM_002769.5(PRSS1):c.350C>T (p.Ala117Val)
|
rs1798772289
|
|
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.365G>C (p.Arg122Pro)
|
rs111033565
|
|
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.370T>C (p.Ser124Pro)
|
rs1798775039
|
|
NM_002769.5(PRSS1):c.372C>G (p.Ser124=)
|
|
|
NM_002769.5(PRSS1):c.382_383del (p.Leu128fs)
|
|
|
NM_002769.5(PRSS1):c.386C>T (p.Pro129Leu)
|
rs768673799
|
|
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile)
|
rs193922655
|
|
NM_002769.5(PRSS1):c.391G>A (p.Ala131Thr)
|
rs141011596
|
|
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.402_403inv (p.Thr135Ala)
|
|
|
NM_002769.5(PRSS1):c.406G>A (p.Gly136Ser)
|
|
|
NM_002769.5(PRSS1):c.408C>A (p.Gly136=)
|
rs1585986936
|
|
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.411G>A (p.Thr137=)
|
rs369013081
|
|
NM_002769.5(PRSS1):c.411G>C (p.Thr137=)
|
|
|
NM_002769.5(PRSS1):c.414G>A (p.Lys138=)
|
rs749482440
|
|
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)
|
rs397507440
|
|
NM_002769.5(PRSS1):c.420C>T (p.Leu140=)
|
|
|
NM_002769.5(PRSS1):c.426T>C (p.Ser142=)
|
|
|
NM_002769.5(PRSS1):c.440C>A (p.Thr147Asn)
|
|
|
NM_002769.5(PRSS1):c.444G>A (p.Ala148=)
|
rs11553844
|
|
NM_002769.5(PRSS1):c.452G>T (p.Gly151Val)
|
rs1563261623
|
|
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+75A>G
|
rs1376416883
|
|
NM_002769.5(PRSS1):c.460T>C (p.Tyr154His)
|
|
|
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.476A>G (p.Gln159Arg)
|
|
|
NM_002769.5(PRSS1):c.479G>A (p.Cys160Tyr)
|
rs778796800
|
|
NM_002769.5(PRSS1):c.484G>A (p.Asp162Asn)
|
|
|
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.488C>T (p.Ala163Val)
|
|
|
NM_002769.5(PRSS1):c.491del (p.Pro164fs)
|
rs766199324
|
|
NM_002769.5(PRSS1):c.498G>A (p.Leu166=)
|
|
|
NM_002769.5(PRSS1):c.498G>C (p.Leu166=)
|
|
|
NM_002769.5(PRSS1):c.49C>G (p.Pro17Ala)
|
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.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.51C>A (p.Pro17=)
|
|
|
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.534G>A (p.Lys178=)
|
rs267601347
|
|
NM_002769.5(PRSS1):c.539C>G (p.Thr180Ser)
|
|
|
NM_002769.5(PRSS1):c.540C>T (p.Thr180=)
|
rs769319141
|
|
NM_002769.5(PRSS1):c.54del (p.Phe18fs)
|
rs779352917
|
|
NM_002769.5(PRSS1):c.551T>C (p.Phe184Ser)
|
|
|
NM_002769.5(PRSS1):c.564C>G (p.Phe188Leu)
|
rs1250731677
|
|
NM_002769.5(PRSS1):c.579G>A (p.Lys193=)
|
rs1457186819
|
|
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.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.592-3dup
|
|
|
NM_002769.5(PRSS1):c.592-4C>T
|
|
|
NM_002769.5(PRSS1):c.592-7C>T
|
rs1443925968
|
|
NM_002769.5(PRSS1):c.601G>C (p.Gly201Arg)
|
|
|
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.612G>A (p.Val204=)
|
|
|
NM_002769.5(PRSS1):c.617G>C (p.Cys206Ser)
|
rs150930992
|
|
NM_002769.5(PRSS1):c.619A>C (p.Asn207His)
|
|
|
NM_002769.5(PRSS1):c.620A>G (p.Asn207Ser)
|
|
|
NM_002769.5(PRSS1):c.625C>G (p.Gln209Glu)
|
|
|
NM_002769.5(PRSS1):c.630C>T (p.Leu210=)
|
|
|
NM_002769.5(PRSS1):c.637G>A (p.Val213Ile)
|
rs200902389
|
|
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.653_655dup (p.Asp218_Gly219insAsp)
|
|
|
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.672C>G (p.Asn224Lys)
|
rs1184689147
|
|
NM_002769.5(PRSS1):c.672C>T (p.Asn224=)
|
|
|
NM_002769.5(PRSS1):c.681A>C (p.Gly227=)
|
rs780015944
|
|
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg)
|
rs111033567
|
|
NM_002769.5(PRSS1):c.699C>T (p.Tyr233=)
|
rs2116990190
|
|
NM_002769.5(PRSS1):c.705T>C (p.Tyr235=)
|
|
|
NM_002769.5(PRSS1):c.721A>T (p.Asn241Tyr)
|
rs141554682
|
|
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>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.73G>C (p.Val25Leu)
|
|
|
NM_002769.5(PRSS1):c.740G>A (p.Ser247Asn)
|
rs1479014593
|
|
NM_002769.5(PRSS1):c.743A>G (p.Ter248=)
|
rs1798883437
|
|
NM_002769.5(PRSS1):c.75T>G (p.Val25=)
|
|
|
NM_002769.5(PRSS1):c.80G>A (p.Gly27Asp)
|
rs1798618982
|
|
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.96G>C (p.Glu32Asp)
|
rs1253944625
|
|
NM_002769.5(PRSS1):c.9A>G (p.Pro3=)
|
rs2116945188
|
|
NM_007272.3(CTRC):c.-59C>T
|
rs183658182
|
|
NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)
|
|
|
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.133-15C>T
|
|
|
NM_007272.3(CTRC):c.133-1G>T
|
rs1557508272
|
|
NM_007272.3(CTRC):c.145T>C (p.Tyr49His)
|
rs78247007
|
|
NM_007272.3(CTRC):c.150C>G (p.Leu50=)
|
|
|
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.173C>T (p.Thr58Met)
|
|
|
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.194C>T (p.Ala65Val)
|
rs2103289502
|
|
NM_007272.3(CTRC):c.1A>G (p.Met1Val)
|
|
|
NM_007272.3(CTRC):c.204C>T (p.Phe68=)
|
|
|
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>T (p.Leu7=)
|
rs1279354220
|
|
NM_007272.3(CTRC):c.220C>T (p.His74Tyr)
|
rs1557508393
|
|
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.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.270C>T (p.Asn90=)
|
|
|
NM_007272.3(CTRC):c.271C>A (p.Leu91Met)
|
rs1407562830
|
|
NM_007272.3(CTRC):c.272_273dup (p.Glu92fs)
|
|
|
NM_007272.3(CTRC):c.295T>A (p.Ser99Thr)
|
|
|
NM_007272.3(CTRC):c.308del (p.Gly103fs)
|
rs773119534
|
|
NM_007272.3(CTRC):c.328del (p.His110fs)
|
|
|
NM_007272.3(CTRC):c.347T>C (p.Leu116Pro)
|
|
|
NM_007272.3(CTRC):c.355C>G (p.Arg119Gly)
|
|
|
NM_007272.3(CTRC):c.356+17C>T
|
|
|
NM_007272.3(CTRC):c.362A>G (p.Asp121Gly)
|
|
|
NM_007272.3(CTRC):c.365T>C (p.Ile122Thr)
|
|
|
NM_007272.3(CTRC):c.369C>G (p.Ala123=)
|
|
|
NM_007272.3(CTRC):c.372C>T (p.Leu124=)
|
|
|
NM_007272.3(CTRC):c.379C>T (p.Leu127Phe)
|
|
|
NM_007272.3(CTRC):c.40+14T>C
|
|
|
NM_007272.3(CTRC):c.403G>A (p.Asp135Asn)
|
|
|
NM_007272.3(CTRC):c.405C>G (p.Asp135Glu)
|
|
|
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.437del (p.Asp146fs)
|
|
|
NM_007272.3(CTRC):c.445C>T (p.Leu149Phe)
|
|
|
NM_007272.3(CTRC):c.459C>T (p.Tyr153=)
|
|
|
NM_007272.3(CTRC):c.477C>T (p.Gly159=)
|
|
|
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
|
|
|
NM_007272.3(CTRC):c.490T>C (p.Trp164Arg)
|
|
|
NM_007272.3(CTRC):c.490_491del (p.Trp164fs)
|
rs2103291536
|
|
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.499G>A (p.Gly167Ser)
|
rs141205711
|
|
NM_007272.3(CTRC):c.522G>C (p.Gln174His)
|
rs2103292282
|
|
NM_007272.3(CTRC):c.527G>A (p.Gly176Asp)
|
|
|
NM_007272.3(CTRC):c.528C>T (p.Gly176=)
|
|
|
NM_007272.3(CTRC):c.537C>G (p.Pro179=)
|
|
|
NM_007272.3(CTRC):c.552C>G (p.Ala184=)
|
rs888159659
|
|
NM_007272.3(CTRC):c.554C>T (p.Thr185Met)
|
|
|
NM_007272.3(CTRC):c.560C>G (p.Ser187Cys)
|
rs1355039968
|
|
NM_007272.3(CTRC):c.583A>G (p.Arg195Gly)
|
rs1708189840
|
|
NM_007272.3(CTRC):c.585G>A (p.Arg195=)
|
|
|
NM_007272.3(CTRC):c.595A>G (p.Thr199Ala)
|
|
|
NM_007272.3(CTRC):c.598A>G (p.Met200Val)
|
|
|
NM_007272.3(CTRC):c.5T>G (p.Leu2Trp)
|
|
|
NM_007272.3(CTRC):c.614G>A (p.Gly205Asp)
|
|
|
NM_007272.3(CTRC):c.622G>A (p.Val208Ile)
|
|
|
NM_007272.3(CTRC):c.625A>G (p.Ile209Val)
|
|
|
NM_007272.3(CTRC):c.628T>C (p.Ser210Pro)
|
rs1570785775
|
|
NM_007272.3(CTRC):c.635G>A (p.Cys212Tyr)
|
|
|
NM_007272.3(CTRC):c.639+13G>A
|
|
|
NM_007272.3(CTRC):c.640-11G>T
|
|
|
NM_007272.3(CTRC):c.640-6G>A
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NM_007272.3(CTRC):c.642G>A (p.Gly214=)
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rs1265655451
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NM_007272.3(CTRC):c.643G>A (p.Asp215Asn)
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rs1708203951
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NM_007272.3(CTRC):c.645C>A (p.Asp215Glu)
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|
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NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)
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rs202058123
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NM_007272.3(CTRC):c.656C>T (p.Pro219Leu)
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|
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NM_007272.3(CTRC):c.660G>A (p.Leu220=)
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NM_007272.3(CTRC):c.664T>C (p.Cys222Arg)
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rs1570786538
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NM_007272.3(CTRC):c.669G>C (p.Gln223His)
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rs752651686
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NM_007272.3(CTRC):c.672G>A (p.Leu224=)
|
rs2103293066
|
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NM_007272.3(CTRC):c.675G>A (p.Glu225=)
|
|
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NM_007272.3(CTRC):c.681T>A (p.Gly227=)
|
rs1389820334
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NM_007272.3(CTRC):c.702C>T (p.Ile234=)
|
|
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NM_007272.3(CTRC):c.718C>T (p.Arg240Trp)
|
|
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NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
|
|
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NM_007272.3(CTRC):c.725G>A (p.Gly242Asp)
|
|
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NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)
|
rs147925927
|
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NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)
|
rs515726210
|
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NM_007272.3(CTRC):c.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu)
|
|
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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.763G>A (p.Val255Met)
|
|
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NM_007272.3(CTRC):c.763G>C (p.Val255Leu)
|
|
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NM_007272.3(CTRC):c.765G>A (p.Val255=)
|
rs1570786781
|
|
NM_007272.3(CTRC):c.778G>T (p.Asp260Tyr)
|
rs540753875
|
|
NM_007272.3(CTRC):c.783G>A (p.Trp261Ter)
|
|
|
NM_007272.3(CTRC):c.788A>C (p.Asn263Thr)
|
|
|
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser)
|
rs769975164
|
|
NM_007272.3(CTRC):c.791A>G (p.Glu264Gly)
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|
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NM_007272.3(CTRC):c.792+10G>A
|
rs1301778392
|
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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
|
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NM_007272.3(CTRC):c.797T>G (p.Met266Arg)
|
rs1708224626
|
|
NM_007272.3(CTRC):c.805T>C (p.Ter269Arg)
|
rs1570787652
|
|
NM_007272.3(CTRC):c.86G>C (p.Arg29Pro)
|
|
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NM_007272.3(CTRC):c.95G>A (p.Gly32Glu)
|
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Single allele
|
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