NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00024
|
NM_002769.5(PRSS1):c.453C>T (p.Gly151=)
|
rs147765409
|
0.00018
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
0.00012
|
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_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_002769.5(PRSS1):c.284G>A (p.Arg95His)
|
rs375820192
|
0.00008
|
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.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
NM_002769.5(PRSS1):c.107C>G (p.Pro36Arg)
|
rs769459903
|
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_002769.5(PRSS1):c.247G>C (p.Gly83Arg)
|
rs372411481
|
0.00004
|
NM_002769.5(PRSS1):c.400G>A (p.Ala134Thr)
|
rs752456117
|
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_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.200C>T (p.Ser67Phe)
|
rs765342413
|
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.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.702C>A (p.Asn234Lys)
|
rs773353079
|
0.00002
|
NM_002769.5(PRSS1):c.73G>A (p.Val25Ile)
|
rs768051473
|
0.00002
|
NM_002769.5(PRSS1):c.112C>G (p.Gln38Glu)
|
rs775259109
|
0.00001
|
NM_002769.5(PRSS1):c.163G>C (p.Glu55Gln)
|
rs1365488828
|
0.00001
|
NM_002769.5(PRSS1):c.203G>T (p.Arg68Leu)
|
rs757111793
|
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.38C>T (p.Ala13Val)
|
rs773357729
|
0.00001
|
NM_002769.5(PRSS1):c.40+3G>A
|
rs762998940
|
0.00001
|
NM_002769.5(PRSS1):c.455-3C>A
|
rs760226452
|
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.561C>T (p.Gly187=)
|
rs1804561
|
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
|
NC_000007.13:g.(?_142456998)_(142457385_?)del
|
|
|
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)_(142460438_?)dup
|
|
|
NC_000007.13:g.(?_142459605)_(142460871_?)del
|
|
|
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.(?_142749281)_(142753040_?)del
|
|
|
NC_000007.14:g.142749147T>G
|
|
|
NM_002769.4(PRSS1):c.-28_-8del21
|
rs755789680
|
|
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.104T>C (p.Val35Ala)
|
|
|
NM_002769.5(PRSS1):c.109T>C (p.Tyr37His)
|
|
|
NM_002769.5(PRSS1):c.111C>G (p.Tyr37Ter)
|
|
|
NM_002769.5(PRSS1):c.112C>A (p.Gln38Lys)
|
|
|
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.125A>G (p.Asn42Ser)
|
|
|
NM_002769.5(PRSS1):c.126T>A (p.Asn42Lys)
|
|
|
NM_002769.5(PRSS1):c.130G>A (p.Gly44Ser)
|
|
|
NM_002769.5(PRSS1):c.131G>T (p.Gly44Val)
|
|
|
NM_002769.5(PRSS1):c.133T>C (p.Tyr45His)
|
|
|
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.136C>G (p.His46Asp)
|
|
|
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.145G>T (p.Gly49Cys)
|
|
|
NM_002769.5(PRSS1):c.149G>A (p.Gly50Asp)
|
|
|
NM_002769.5(PRSS1):c.149G>C (p.Gly50Ala)
|
|
|
NM_002769.5(PRSS1):c.152C>A (p.Ser51Tyr)
|
|
|
NM_002769.5(PRSS1):c.154C>G (p.Leu52Val)
|
|
|
NM_002769.5(PRSS1):c.157A>C (p.Ile53Leu)
|
|
|
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser)
|
rs144422014
|
|
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.168G>C (p.Gln56His)
|
|
|
NM_002769.5(PRSS1):c.168G>T (p.Gln56His)
|
|
|
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.178T>A (p.Ser60Thr)
|
|
|
NM_002769.5(PRSS1):c.178T>C (p.Ser60Pro)
|
|
|
NM_002769.5(PRSS1):c.178T>G (p.Ser60Ala)
|
|
|
NM_002769.5(PRSS1):c.17T>A (p.Ile6Asn)
|
|
|
NM_002769.5(PRSS1):c.185G>A (p.Gly62Asp)
|
|
|
NM_002769.5(PRSS1):c.185G>T (p.Gly62Val)
|
|
|
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.193T>A (p.Tyr65Asn)
|
|
|
NM_002769.5(PRSS1):c.193T>C (p.Tyr65His)
|
|
|
NM_002769.5(PRSS1):c.196A>T (p.Lys66Ter)
|
|
|
NM_002769.5(PRSS1):c.197A>G (p.Lys66Arg)
|
|
|
NM_002769.5(PRSS1):c.200+1G>A
|
rs143909348
|
|
NM_002769.5(PRSS1):c.200+1G>C
|
|
|
NM_002769.5(PRSS1):c.200+6T>C
|
rs763073587
|
|
NM_002769.5(PRSS1):c.200C>A (p.Ser67Tyr)
|
|
|
NM_002769.5(PRSS1):c.201-1G>A
|
rs2116976495
|
|
NM_002769.5(PRSS1):c.201-7C>A
|
|
|
NM_002769.5(PRSS1):c.201-8C>A
|
|
|
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.220G>A (p.Gly74Arg)
|
|
|
NM_002769.5(PRSS1):c.221G>A (p.Gly74Glu)
|
|
|
NM_002769.5(PRSS1):c.221G>C (p.Gly74Ala)
|
|
|
NM_002769.5(PRSS1):c.221dup (p.Glu75fs)
|
|
|
NM_002769.5(PRSS1):c.226C>T (p.His76Tyr)
|
|
|
NM_002769.5(PRSS1):c.227A>G (p.His76Arg)
|
|
|
NM_002769.5(PRSS1):c.228C>A (p.His76Gln)
|
|
|
NM_002769.5(PRSS1):c.228C>G (p.His76Gln)
|
|
|
NM_002769.5(PRSS1):c.229A>T (p.Asn77Tyr)
|
|
|
NM_002769.5(PRSS1):c.230A>C (p.Asn77Thr)
|
|
|
NM_002769.5(PRSS1):c.232A>C (p.Ile78Leu)
|
|
|
NM_002769.5(PRSS1):c.233T>C (p.Ile78Thr)
|
|
|
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.245A>T (p.Glu82Val)
|
|
|
NM_002769.5(PRSS1):c.246G>T (p.Glu82Asp)
|
|
|
NM_002769.5(PRSS1):c.248G>A (p.Gly83Glu)
|
|
|
NM_002769.5(PRSS1):c.252T>G (p.Asn84Lys)
|
|
|
NM_002769.5(PRSS1):c.256C>A (p.Gln86Lys)
|
|
|
NM_002769.5(PRSS1):c.257A>C (p.Gln86Pro)
|
|
|
NM_002769.5(PRSS1):c.257A>T (p.Gln86Leu)
|
|
|
NM_002769.5(PRSS1):c.259T>A (p.Phe87Ile)
|
|
|
NM_002769.5(PRSS1):c.25T>A (p.Phe9Ile)
|
|
|
NM_002769.5(PRSS1):c.261C>G (p.Phe87Leu)
|
|
|
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.268G>C (p.Ala90Pro)
|
|
|
NM_002769.5(PRSS1):c.269C>T (p.Ala90Val)
|
rs984312649
|
|
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.278T>C (p.Ile93Thr)
|
|
|
NM_002769.5(PRSS1):c.281T>A (p.Ile94Asn)
|
|
|
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.289C>G (p.Pro97Ala)
|
|
|
NM_002769.5(PRSS1):c.289C>T (p.Pro97Ser)
|
|
|
NM_002769.5(PRSS1):c.28G>A (p.Val10Met)
|
|
|
NM_002769.5(PRSS1):c.290C>A (p.Pro97His)
|
|
|
NM_002769.5(PRSS1):c.290C>T (p.Pro97Leu)
|
|
|
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.293A>G (p.Gln98Arg)
|
|
|
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.299A>G (p.Asp100Gly)
|
|
|
NM_002769.5(PRSS1):c.2T>A (p.Met1Lys)
|
|
|
NM_002769.5(PRSS1):c.2T>G (p.Met1Arg)
|
|
|
NM_002769.5(PRSS1):c.300C>G (p.Asp100Glu)
|
|
|
NM_002769.5(PRSS1):c.301A>G (p.Arg101Gly)
|
|
|
NM_002769.5(PRSS1):c.302G>A (p.Arg101Lys)
|
|
|
NM_002769.5(PRSS1):c.303_305delinsCCG (p.Arg101_Lys102delinsSerArg)
|
|
|
NM_002769.5(PRSS1):c.305A>G (p.Lys102Arg)
|
|
|
NM_002769.5(PRSS1):c.305A>T (p.Lys102Met)
|
|
|
NM_002769.5(PRSS1):c.306G>T (p.Lys102Asn)
|
|
|
NM_002769.5(PRSS1):c.310C>A (p.Leu104Met)
|
|
|
NM_002769.5(PRSS1):c.310C>G (p.Leu104Val)
|
|
|
NM_002769.5(PRSS1):c.311T>C (p.Leu104Pro)
|
rs1554499091
|
|
NM_002769.5(PRSS1):c.313A>G (p.Asn105Asp)
|
|
|
NM_002769.5(PRSS1):c.315C>G (p.Asn105Lys)
|
|
|
NM_002769.5(PRSS1):c.316A>C (p.Asn106His)
|
|
|
NM_002769.5(PRSS1):c.317A>G (p.Asn106Ser)
|
|
|
NM_002769.5(PRSS1):c.318T>A (p.Asn106Lys)
|
|
|
NM_002769.5(PRSS1):c.318T>G (p.Asn106Lys)
|
|
|
NM_002769.5(PRSS1):c.319G>A (p.Asp107Asn)
|
|
|
NM_002769.5(PRSS1):c.319G>T (p.Asp107Tyr)
|
|
|
NM_002769.5(PRSS1):c.325A>C (p.Met109Leu)
|
|
|
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.329T>C (p.Leu110Ser)
|
|
|
NM_002769.5(PRSS1):c.331A>G (p.Ile111Val)
|
|
|
NM_002769.5(PRSS1):c.332T>A (p.Ile111Asn)
|
|
|
NM_002769.5(PRSS1):c.336G>C (p.Lys112Asn)
|
|
|
NM_002769.5(PRSS1):c.337C>T (p.Leu113Phe)
|
|
|
NM_002769.5(PRSS1):c.338T>A (p.Leu113His)
|
|
|
NM_002769.5(PRSS1):c.341C>G (p.Ser114Cys)
|
|
|
NM_002769.5(PRSS1):c.341C>T (p.Ser114Phe)
|
|
|
NM_002769.5(PRSS1):c.346C>A (p.Arg116Ser)
|
|
|
NM_002769.5(PRSS1):c.347G>A (p.Arg116His)
|
rs199769221
|
|
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.352G>C (p.Val118Leu)
|
|
|
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.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.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.368T>A (p.Val123Glu)
|
|
|
NM_002769.5(PRSS1):c.370T>A (p.Ser124Thr)
|
|
|
NM_002769.5(PRSS1):c.370T>C (p.Ser124Pro)
|
rs1798775039
|
|
NM_002769.5(PRSS1):c.371C>A (p.Ser124Tyr)
|
|
|
NM_002769.5(PRSS1):c.371C>T (p.Ser124Phe)
|
|
|
NM_002769.5(PRSS1):c.373A>G (p.Thr125Ala)
|
|
|
NM_002769.5(PRSS1):c.378C>G (p.Ile126Met)
|
|
|
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.38C>A (p.Ala13Asp)
|
|
|
NM_002769.5(PRSS1):c.391G>A (p.Ala131Thr)
|
rs141011596
|
|
NM_002769.5(PRSS1):c.392C>A (p.Ala131Asp)
|
|
|
NM_002769.5(PRSS1):c.392C>G (p.Ala131Gly)
|
|
|
NM_002769.5(PRSS1):c.394C>A (p.Pro132Thr)
|
|
|
NM_002769.5(PRSS1):c.395C>A (p.Pro132His)
|
rs759452330
|
|
NM_002769.5(PRSS1):c.395C>G (p.Pro132Arg)
|
|
|
NM_002769.5(PRSS1):c.395C>T (p.Pro132Leu)
|
|
|
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg)
|
rs193922656
|
|
NM_002769.5(PRSS1):c.40+3_40+6del
|
rs897784116
|
|
NM_002769.5(PRSS1):c.40+40dup
|
rs748794481
|
|
NM_002769.5(PRSS1):c.400G>T (p.Ala134Ser)
|
|
|
NM_002769.5(PRSS1):c.402_403inv (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.409A>C (p.Thr137Pro)
|
|
|
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.41-3C>T
|
|
|
NM_002769.5(PRSS1):c.41-5del
|
rs1161040461
|
|
NM_002769.5(PRSS1):c.413A>C (p.Lys138Thr)
|
|
|
NM_002769.5(PRSS1):c.413A>G (p.Lys138Arg)
|
|
|
NM_002769.5(PRSS1):c.414G>C (p.Lys138Asn)
|
|
|
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)
|
rs397507440
|
|
NM_002769.5(PRSS1):c.418C>G (p.Leu140Val)
|
|
|
NM_002769.5(PRSS1):c.419T>A (p.Leu140His)
|
|
|
NM_002769.5(PRSS1):c.423C>G (p.Ile141Met)
|
|
|
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.428G>C (p.Gly143Ala)
|
|
|
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.43G>C (p.Ala15Pro)
|
|
|
NM_002769.5(PRSS1):c.440C>A (p.Thr147Asn)
|
|
|
NM_002769.5(PRSS1):c.440C>T (p.Thr147Ile)
|
|
|
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.446G>A (p.Ser149Asn)
|
|
|
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.454+13C>T
|
|
|
NM_002769.5(PRSS1):c.454+3G>A
|
|
|
NM_002769.5(PRSS1):c.454+3G>T
|
rs375996400
|
|
NM_002769.5(PRSS1):c.454+75A>G
|
rs1376416883
|
|
NM_002769.5(PRSS1):c.455-14C>T
|
|
|
NM_002769.5(PRSS1):c.455-1G>A
|
|
|
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.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.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>C (p.Glu157Asp)
|
|
|
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.482T>G (p.Leu161Arg)
|
|
|
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>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.490C>A (p.Pro164Thr)
|
|
|
NM_002769.5(PRSS1):c.491C>A (p.Pro164His)
|
|
|
NM_002769.5(PRSS1):c.491del (p.Pro164fs)
|
rs766199324
|
|
NM_002769.5(PRSS1):c.493G>A (p.Val165Met)
|
|
|
NM_002769.5(PRSS1):c.499A>G (p.Ser167Gly)
|
|
|
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.501C>A (p.Ser167Arg)
|
|
|
NM_002769.5(PRSS1):c.502C>A (p.Gln168Lys)
|
|
|
NM_002769.5(PRSS1):c.503A>T (p.Gln168Leu)
|
|
|
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>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.516A>T (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.521C>G (p.Ser174Cys)
|
|
|
NM_002769.5(PRSS1):c.521C>T (p.Ser174Phe)
|
|
|
NM_002769.5(PRSS1):c.523T>A (p.Tyr175Asn)
|
rs756821075
|
|
NM_002769.5(PRSS1):c.523T>C (p.Tyr175His)
|
|
|
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.533A>G (p.Lys178Arg)
|
|
|
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.538A>G (p.Thr180Ala)
|
|
|
NM_002769.5(PRSS1):c.539C>G (p.Thr180Ser)
|
|
|
NM_002769.5(PRSS1):c.539C>T (p.Thr180Ile)
|
|
|
NM_002769.5(PRSS1):c.544A>C (p.Asn182His)
|
|
|
NM_002769.5(PRSS1):c.544A>G (p.Asn182Asp)
|
|
|
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.550T>C (p.Phe184Leu)
|
|
|
NM_002769.5(PRSS1):c.551T>C (p.Phe184Ser)
|
|
|
NM_002769.5(PRSS1):c.552C>A (p.Phe184Leu)
|
|
|
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.55G>C (p.Asp19His)
|
|
|
NM_002769.5(PRSS1):c.560G>A (p.Gly187Asp)
|
|
|
NM_002769.5(PRSS1):c.562T>C (p.Phe188Leu)
|
|
|
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.579_580delinsAT (p.Asp194Tyr)
|
|
|
NM_002769.5(PRSS1):c.581A>T (p.Asp194Val)
|
|
|
NM_002769.5(PRSS1):c.583T>A (p.Ser195Thr)
|
|
|
NM_002769.5(PRSS1):c.586T>C (p.Cys196Arg)
|
|
|
NM_002769.5(PRSS1):c.586T>G (p.Cys196Gly)
|
|
|
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+12_591+14del
|
|
|
NM_002769.5(PRSS1):c.592-1G>C
|
|
|
NM_002769.5(PRSS1):c.592-4C>G
|
rs375342697
|
|
NM_002769.5(PRSS1):c.593G>A (p.Gly198Asp)
|
|
|
NM_002769.5(PRSS1):c.593G>T (p.Gly198Val)
|
|
|
NM_002769.5(PRSS1):c.595G>A (p.Asp199Asn)
|
|
|
NM_002769.5(PRSS1):c.599C>A (p.Ser200Tyr)
|
|
|
NM_002769.5(PRSS1):c.5A>G (p.Asn2Ser)
|
|
|
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.610G>A (p.Val204Met)
|
rs1563263032
|
|
NM_002769.5(PRSS1):c.610G>C (p.Val204Leu)
|
|
|
NM_002769.5(PRSS1):c.613G>A (p.Val205Ile)
|
|
|
NM_002769.5(PRSS1):c.617G>A (p.Cys206Tyr)
|
|
|
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)
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NM_002769.5(PRSS1):c.621T>A (p.Asn207Lys)
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NM_002769.5(PRSS1):c.622G>A (p.Gly208Arg)
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NM_002769.5(PRSS1):c.628C>G (p.Leu210Val)
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NM_002769.5(PRSS1):c.62A>T (p.Asp21Val)
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NM_002769.5(PRSS1):c.634G>C (p.Gly212Arg)
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NM_002769.5(PRSS1):c.635G>C (p.Gly212Ala)
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NM_002769.5(PRSS1):c.635G>T (p.Gly212Val)
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NM_002769.5(PRSS1):c.640G>A (p.Val214Ile)
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NM_002769.5(PRSS1):c.640G>C (p.Val214Leu)
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NM_002769.5(PRSS1):c.640G>T (p.Val214Phe)
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NM_002769.5(PRSS1):c.641T>C (p.Val214Ala)
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NM_002769.5(PRSS1):c.643T>C (p.Ser215Pro)
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NM_002769.5(PRSS1):c.646T>C (p.Trp216Arg)
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NM_002769.5(PRSS1):c.647G>T (p.Trp216Leu)
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NM_002769.5(PRSS1):c.649G>A (p.Gly217Ser)
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NM_002769.5(PRSS1):c.64G>A (p.Asp22Asn)
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rs1563258794
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NM_002769.5(PRSS1):c.650G>T (p.Gly217Val)
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NM_002769.5(PRSS1):c.650_652del (p.Gly217del)
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NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr)
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rs1554499629
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NM_002769.5(PRSS1):c.652G>A (p.Asp218Asn)
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NM_002769.5(PRSS1):c.653_655dup (p.Asp218_Gly219insAsp)
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NM_002769.5(PRSS1):c.655G>T (p.Gly219Cys)
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NM_002769.5(PRSS1):c.656G>A (p.Gly219Asp)
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NM_002769.5(PRSS1):c.656G>C (p.Gly219Ala)
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NM_002769.5(PRSS1):c.656G>T (p.Gly219Val)
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NM_002769.5(PRSS1):c.659G>A (p.Cys220Tyr)
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NM_002769.5(PRSS1):c.662C>T (p.Ala221Val)
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NM_002769.5(PRSS1):c.667A>G (p.Lys223Glu)
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NM_002769.5(PRSS1):c.669G>C (p.Lys223Asn)
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rs1439609895
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NM_002769.5(PRSS1):c.66C>G (p.Asp22Glu)
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rs1585978624
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NM_002769.5(PRSS1):c.671A>G (p.Asn224Ser)
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NM_002769.5(PRSS1):c.672C>G (p.Asn224Lys)
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rs1184689147
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NM_002769.5(PRSS1):c.675G>T (p.Lys225Asn)
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NM_002769.5(PRSS1):c.676C>A (p.Pro226Thr)
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NM_002769.5(PRSS1):c.67A>G (p.Lys23Glu)
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NM_002769.5(PRSS1):c.680G>A (p.Gly227Glu)
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NM_002769.5(PRSS1):c.680G>C (p.Gly227Ala)
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NM_002769.5(PRSS1):c.682G>C (p.Val228Leu)
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NM_002769.5(PRSS1):c.685T>C (p.Tyr229His)
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NM_002769.5(PRSS1):c.688A>C (p.Thr230Pro)
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NM_002769.5(PRSS1):c.688A>T (p.Thr230Ser)
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NM_002769.5(PRSS1):c.694G>A (p.Val232Ile)
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NM_002769.5(PRSS1):c.694G>C (p.Val232Leu)
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NM_002769.5(PRSS1):c.695T>G (p.Val232Gly)
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NM_002769.5(PRSS1):c.699C>A (p.Tyr233Ter)
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NM_002769.5(PRSS1):c.700A>G (p.Asn234Asp)
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NM_002769.5(PRSS1):c.701A>G (p.Asn234Ser)
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NM_002769.5(PRSS1):c.701A>T (p.Asn234Ile)
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NM_002769.5(PRSS1):c.704A>C (p.Tyr235Ser)
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NM_002769.5(PRSS1):c.706G>A (p.Val236Met)
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NM_002769.5(PRSS1):c.707T>A (p.Val236Glu)
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NM_002769.5(PRSS1):c.707T>G (p.Val236Gly)
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NM_002769.5(PRSS1):c.70A>C (p.Ile24Leu)
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NM_002769.5(PRSS1):c.710A>G (p.Lys237Arg)
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NM_002769.5(PRSS1):c.710A>T (p.Lys237Ile)
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NM_002769.5(PRSS1):c.712T>C (p.Trp238Arg)
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NM_002769.5(PRSS1):c.715A>T (p.Ile239Phe)
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NM_002769.5(PRSS1):c.718A>G (p.Lys240Glu)
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NM_002769.5(PRSS1):c.71T>A (p.Ile24Asn)
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NM_002769.5(PRSS1):c.721A>T (p.Asn241Tyr)
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rs141554682
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NM_002769.5(PRSS1):c.723C>A (p.Asn241Lys)
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NM_002769.5(PRSS1):c.725C>G (p.Thr242Ser)
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NM_002769.5(PRSS1):c.725C>T (p.Thr242Ile)
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NM_002769.5(PRSS1):c.727A>G (p.Ile243Val)
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NM_002769.5(PRSS1):c.728T>C (p.Ile243Thr)
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rs1554499664
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NM_002769.5(PRSS1):c.731C>T (p.Ala244Val)
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NM_002769.5(PRSS1):c.733G>T (p.Ala245Ser)
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NM_002769.5(PRSS1):c.734C>T (p.Ala245Val)
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rs1798882939
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NM_002769.5(PRSS1):c.738T>G (p.Asn246Lys)
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NM_002769.5(PRSS1):c.739A>G (p.Ser247Gly)
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NM_002769.5(PRSS1):c.73G>C (p.Val25Leu)
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NM_002769.5(PRSS1):c.73G>T (p.Val25Phe)
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NM_002769.5(PRSS1):c.740G>A (p.Ser247Asn)
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rs1479014593
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NM_002769.5(PRSS1):c.740G>T (p.Ser247Ile)
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NM_002769.5(PRSS1):c.74T>C (p.Val25Ala)
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NM_002769.5(PRSS1):c.77G>A (p.Gly26Glu)
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NM_002769.5(PRSS1):c.80G>A (p.Gly27Asp)
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rs1798618982
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NM_002769.5(PRSS1):c.82T>G (p.Tyr28Asp)
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rs1405433158
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NM_002769.5(PRSS1):c.86A>G (p.Asn29Ser)
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NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)
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rs111033566
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NM_002769.5(PRSS1):c.87C>G (p.Asn29Lys)
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rs747010881
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NM_002769.5(PRSS1):c.88T>A (p.Cys30Ser)
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NM_002769.5(PRSS1):c.89G>A (p.Cys30Tyr)
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NM_002769.5(PRSS1):c.91G>A (p.Glu31Lys)
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rs700323
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NM_002769.5(PRSS1):c.91GAG[1] (p.Glu32del)
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rs1317719683
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NM_002769.5(PRSS1):c.92A>T (p.Glu31Val)
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NM_002769.5(PRSS1):c.93G>C (p.Glu31Asp)
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NM_002769.5(PRSS1):c.95A>G (p.Glu32Gly)
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NM_002769.5(PRSS1):c.96G>C (p.Glu32Asp)
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rs1253944625
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NM_002769.5(PRSS1):c.98A>C (p.Asn33Thr)
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