ClinVar Miner

List of variants reported as likely benign for pancreas disorder

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2541
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.46-5883dup rs61641319 0.99994
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000352.6(ABCC8):c.2390+123C>T rs4148631 0.70926
NM_000352.6(ABCC8):c.2390+93C>T rs4148630 0.70902
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_001166108.2(PALLD):c.*317A>T rs542531106 0.23477
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_001366110.1(PAX4):c.*402T>C rs327519 0.07655
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_000458.4(HNF1B):c.344+256G>C rs111950175 0.06108
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_001379610.1(SPINK1):c.*32C>T rs11319 0.04721
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_178161.3(PTF1A):c.*190C>T rs74121767 0.04559
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_175914.5(HNF4A):c.*305A>G rs56343153 0.04078
NM_175914.5(HNF4A):c.*242T>C rs41282030 0.04068
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03918
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_175914.5(HNF4A):c.50-4538G>A rs113725562 0.03716
NM_001366110.1(PAX4):c.*492G>A rs405576 0.03297
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_000458.4(HNF1B):c.*777G>A rs17138512 0.02929
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_000458.4(HNF1B):c.1340-97G>A rs77297671 0.01990
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432 0.01903
NM_001166108.2(PALLD):c.3359-4G>A rs112116419 0.01852
NM_000208.4(INSR):c.653-7del rs766817873 0.01724
NM_003051.4(SLC16A1):c.*145T>G rs11585690 0.01723
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_000458.4(HNF1B):c.*804T>C rs75361710 0.01316
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_003051.4(SLC16A1):c.*1876G>C rs11811205 0.01235
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_003051.4(SLC16A1):c.*332T>C rs41306207 0.01211
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_000458.4(HNF1B):c.809+109A>G rs9901538 0.01153
NM_000458.4(HNF1B):c.1340-303T>A rs112298654 0.01150
NM_175914.5(HNF4A):c.*1975G>A rs140719706 0.01125
NM_001366110.1(PAX4):c.*33A>C rs150578361 0.01119
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_001379610.1(SPINK1):c.194+184T>A rs114094661 0.01063
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_001379610.1(SPINK1):c.*51T>C rs113527737 0.01047
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066 0.01045
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_001715.2(BLK):c.-448T>C rs148891021 0.00986
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_012096.3(APPL1):c.36G>C (p.Thr12=) rs79282761 0.00944
NM_001042413.2(GLIS3):c.1216G>T (p.Gly406Cys) rs75462592 0.00898
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433 0.00891
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_005271.5(GLUD1):c.*852A>G rs150260124 0.00846
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_005544.3(IRS1):c.2452G>C (p.Gly818Arg) rs41265094 0.00841
NM_001379610.1(SPINK1):c.231G>A (p.Gly77=) rs34809998 0.00827
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005271.5(GLUD1):c.*908T>C rs140942830 0.00817
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_175914.5(HNF4A):c.*521G>A rs111466682 0.00755
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_001715.2(BLK):c.-530G>A rs115316286 0.00661
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_000208.4(INSR):c.3370-15G>A rs41300628 0.00616
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
NM_000208.4(INSR):c.*498_*499insTT rs71775166 0.00598
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=) rs61730326 0.00553
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_001807.6(CEL):c.1833G>C (p.Gly611=) rs1211933243 0.00547
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_000458.4(HNF1B):c.-67C>T rs140699244 0.00491
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_001109809.5(ZFP57):c.112C>T (p.Arg38Trp) rs114772002 0.00482
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_002769.5(PRSS1):c.567T>C (p.Leu189=) rs377124851 0.00444
NM_005544.3(IRS1):c.2358T>C (p.His786=) rs137866175 0.00443
NM_002500.5(NEUROD1):c.-60G>A rs189844846 0.00441
NM_173560.4(RFX6):c.2176C>G (p.Arg726Gly) rs144648002 0.00436
NM_175914.5(HNF4A):c.*2786C>T rs113417800 0.00435
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_001366110.1(PAX4):c.*190C>T rs2233585 0.00426
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_002500.5(NEUROD1):c.*719G>A rs184299700 0.00423
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_175914.4(HNF4A):c.-278G>A rs112444447 0.00417
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_001715.2(BLK):c.-441C>A rs142686759 0.00409
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_001868.4(CPA1):c.604C>A (p.Gln202Lys) rs61735962 0.00405
NM_001366110.1(PAX4):c.*287C>T rs12669223 0.00402
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000208.4(INSR):c.*501T>G rs562228680 0.00400
NM_000208.4(INSR):c.*2820G>A rs139376149 0.00394
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000208.4(INSR):c.*1870C>G rs41315072 0.00376
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_000208.4(INSR):c.*394del rs140291876 0.00350
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_175914.5(HNF4A):c.*2656G>A rs146992858 0.00337
NM_005271.5(GLUD1):c.*972G>A rs12980 0.00335
NM_001042413.2(GLIS3):c.*2034T>C rs193108375 0.00334
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_175914.4(HNF4A):c.-401G>A rs537336047 0.00320
NM_002500.5(NEUROD1):c.*78C>T rs41270211 0.00315
NM_001042413.2(GLIS3):c.1318A>G (p.Thr440Ala) rs80161424 0.00314
NM_001715.2(BLK):c.-304C>G rs151046937 0.00312
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_001042413.2(GLIS3):c.1545G>C (p.Glu515Asp) rs72687988 0.00304
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu) rs35776173 0.00300
NM_001166108.2(PALLD):c.502C>G (p.Leu168Val) rs115607645 0.00299
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001109809.5(ZFP57):c.732T>C (p.Ser244=) rs190197921 0.00290
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_001166108.2(PALLD):c.764G>A (p.Arg255His) rs146018183 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_001042413.2(GLIS3):c.*2707T>G rs76838287 0.00282
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_001626.6(AKT2):c.93C>T (p.Ser31=) rs35588791 0.00270
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00269
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_175914.5(HNF4A):c.*393G>A rs190373692 0.00267
NM_003051.4(SLC16A1):c.*1281T>G rs184445532 0.00263
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) rs74407840 0.00243
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000545.8(HNF1A):c.*5G>A rs112986697 0.00237
NM_000545.8(HNF1A):c.*908G>A rs140584786 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_000545.5(HNF1A):c.-347G>A rs76729898 0.00231
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409 0.00230
NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met) rs148816140 0.00229
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_000208.4(INSR):c.*1171C>T rs188386673 0.00225
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala) rs138343620 0.00225
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_175914.5(HNF4A):c.*568G>A rs142417840 0.00220
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_001868.4(CPA1):c.816G>A (p.Ser272=) rs34843162 0.00217
NM_007294.4(BRCA1):c.-19-361C>T rs141625477 0.00217
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_000458.4(HNF1B):c.*659G>A rs182736930 0.00215
NM_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_175914.5(HNF4A):c.*785G>A rs557646293 0.00213
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001109809.5(ZFP57):c.475A>T (p.Thr159Ser) rs201703858 0.00211
NM_001109809.5(ZFP57):c.532T>C (p.Tyr178His) rs146835830 0.00210
NM_001109809.5(ZFP57):c.843C>T (p.His281=) rs141297510 0.00209
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp) rs144546424 0.00209
NM_005271.5(GLUD1):c.*1282G>C rs181931207 0.00208
NM_001868.4(CPA1):c.621C>T (p.Thr207=) rs61735158 0.00205
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_001366110.1(PAX4):c.14-188del rs533462973 0.00204
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NC_000007.14:g.117479634A>G rs185028612 0.00200
NM_000545.5(HNF1A):c.-400C>T rs77774709 0.00200
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr) rs148572278 0.00199
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_175914.5(HNF4A):c.*1095G>A rs192208246 0.00195
NM_002711.4(PPP1R3A):c.2640A>T (p.Arg880Ser) rs115322623 0.00194
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_000492.4(CFTR):c.1210-15del rs371831442 0.00192
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_000208.4(INSR):c.*4760G>A rs574836227 0.00186
NM_001109809.5(ZFP57):c.491G>A (p.Arg164Gln) rs200541066 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_001042413.2(GLIS3):c.*2404A>C rs569350667 0.00183
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366 0.00178
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_002711.4(PPP1R3A):c.2267C>T (p.Pro756Leu) rs151310594 0.00173
NM_001042413.2(GLIS3):c.1092G>T (p.Pro364=) rs74680081 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu) rs148123124 0.00170
NM_001042413.2(GLIS3):c.1090C>T (p.Pro364Ser) rs143056249 0.00165
NM_001042413.2(GLIS3):c.954C>T (p.Thr318=) rs75564360 0.00165
NM_001868.4(CPA1):c.371C>T (p.Thr124Ile) rs150653308 0.00165
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His) rs138497710 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys) rs146238335 0.00163
NM_001042413.2(GLIS3):c.1767G>T (p.Arg589=) rs138100080 0.00160
NM_001166108.2(PALLD):c.1965-12636G>A rs543821321 0.00160
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_001109809.5(ZFP57):c.1472C>G (p.Thr491Ser) rs184974475 0.00159
NM_003597.5(KLF11):c.225C>T (p.Val75=) rs144083374 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_000458.4(HNF1B):c.*625C>T rs188957129 0.00154
NM_002711.4(PPP1R3A):c.2990T>G (p.Phe997Cys) rs35572169 0.00154
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala) rs141467694 0.00147
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro) rs146115506 0.00143
NM_001042413.2(GLIS3):c.*2787G>A rs187613528 0.00141
NM_001042413.2(GLIS3):c.*2850C>G rs184008619 0.00140
NM_001042413.2(GLIS3):c.*1116G>A rs150411858 0.00139
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001868.4(CPA1):c.1209G>A (p.Thr403=) rs113061008 0.00138
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
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_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_000352.6(ABCC8):c.1332+4del rs587783164 0.00128
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000458.4(HNF1B):c.*683G>A rs144234352 0.00126
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_173560.4(RFX6):c.2369G>A (p.Gly790Glu) rs57924353 0.00124
NM_000208.4(INSR):c.2575C>T (p.His859Tyr) rs149536206 0.00123
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000525.4(KCNJ11):c.*862G>T rs547635594 0.00115
NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg) rs140272400 0.00112
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177 0.00111
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys) rs146081967 0.00111
NM_178161.3(PTF1A):c.162C>T (p.Ser54=) rs117678424 0.00110
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) rs370163562 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001807.6(CEL):c.1716C>G (p.Pro572=) rs200152972 0.00108
NM_001868.4(CPA1):c.867T>C (p.Ile289=) rs115663631 0.00108
NM_001166108.2(PALLD):c.1965-12908G>A rs758706279 0.00107
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000352.6(ABCC8):c.1924-17C>T rs117189973 0.00105
NM_001166108.2(PALLD):c.33-4G>A rs113515140 0.00105
NM_005068.3(SIM1):c.1864T>C (p.Ser622Pro) rs141415931 0.00105
NM_001868.4(CPA1):c.695C>T (p.Thr232Met) rs114488732 0.00104
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000545.8(HNF1A):c.1704C>T (p.Pro568=) rs148520816 0.00103
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg) rs141304623 0.00103
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_001166108.2(PALLD):c.1965-12594T>G rs587780760 0.00102
NM_001166108.2(PALLD):c.2393T>C (p.Met798Thr) rs142116575 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_002500.4(NEUROD1):c.*1555C>T rs192155087 0.00099
NM_007294.4(BRCA1):c.5277+78G>A rs80358107 0.00099
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_003597.5(KLF11):c.486A>G (p.Pro162=) rs146462049 0.00093
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_002711.4(PPP1R3A):c.2885G>A (p.Gly962Asp) rs148408134 0.00090
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln) rs34762805 0.00088
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000545.8(HNF1A):c.156C>T (p.Gly52=) rs150195625 0.00086
NM_001042413.2(GLIS3):c.2340G>A (p.Arg780=) rs147473975 0.00086
NM_001042413.2(GLIS3):c.744A>G (p.Leu248=) rs139080385 0.00086
NM_002666.5(PLIN1):c.814G>A (p.Val272Met) rs145476436 0.00086
NM_001042413.2(GLIS3):c.*557A>G rs75480480 0.00085
NM_001366110.1(PAX4):c.69T>C (p.Pro23=) rs116124047 0.00085
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_001042413.2(GLIS3):c.1199A>G (p.His400Arg) rs376031632 0.00081
NC_000011.10:g.2161289T>C rs571342427 0.00080
NM_001366110.1(PAX4):c.144+16C>T rs138902071 0.00080
NM_001807.6(CEL):c.1689A>G (p.Thr563=) rs199941432 0.00079
NM_001807.6(CEL):c.1692G>T (p.Gly564=) rs200716123 0.00079
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575 0.00079
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00078
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598 0.00078
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) rs151153967 0.00078
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001807.6(CEL):c.554G>A (p.Arg185Gln) rs141665160 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551 0.00074
NM_001715.3(BLK):c.1338C>G (p.Arg446=) rs377160616 0.00073
NM_001807.6(CEL):c.1335C>T (p.Pro445=) rs371892814 0.00073
NM_002666.5(PLIN1):c.838C>T (p.Arg280Trp) rs146721183 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_001166108.2(PALLD):c.539C>T (p.Thr180Ile) rs146387060 0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001868.4(CPA1):c.1029C>T (p.Leu343=) rs61735156 0.00071
NM_007272.3(CTRC):c.40+24G>A rs142888713 0.00071
NM_001166108.2(PALLD):c.2199+8G>A rs200060953 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
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_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_002769.5(PRSS1):c.40+10A>G rs199613498 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_000458.4(HNF1B):c.*691A>G rs751817675 0.00064
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001626.6(AKT2):c.1367-7C>T rs191069336 0.00063
NM_002666.5(PLIN1):c.107G>T (p.Cys36Phe) rs140081686 0.00062
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00062
NM_000352.5(ABCC8):c.*118A>G rs142441893 0.00061
NM_000545.8(HNF1A):c.210C>T (p.Ser70=) rs146686581 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_001109809.5(ZFP57):c.113G>A (p.Arg38Gln) rs142917604 0.00060
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_001042413.2(GLIS3):c.1260C>T (p.Pro420=) rs377419083 0.00059
NM_001626.6(AKT2):c.442-8C>T rs201884933 0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_001715.3(BLK):c.223C>G (p.Arg75Gly) rs149393791 0.00057
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_175914.5(HNF4A):c.*271C>T rs11574745 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_001715.3(BLK):c.1302G>A (p.Val434=) rs145686279 0.00054
NM_002303.6(LEPR):c.658G>A (p.Val220Ile) rs148349369 0.00054
NM_000208.4(INSR):c.*1116G>A rs146905190 0.00051
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00051
NM_001626.6(AKT2):c.282C>T (p.Asp94=) rs139125633 0.00051
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_002769.5(PRSS1):c.343T>A (p.Ser115Thr) rs606231344 0.00049
NM_173560.4(RFX6):c.268G>A (p.Ala90Thr) rs377721888 0.00049
NC_000019.10:g.7112253C>T rs138569451 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_001626.6(AKT2):c.960+3G>A rs56165898 0.00048
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) rs536012651 0.00048
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg) rs144431930 0.00048
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_000545.8(HNF1A):c.1309+187T>A rs184963118 0.00044
NM_001042413.2(GLIS3):c.287C>T (p.Pro96Leu) rs143425492 0.00043
NM_006005.3(WFS1):c.2085C>T (p.Gly695=) rs150568382 0.00043
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) rs144492050 0.00042
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) rs564129447 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00040
NM_000340.2(SLC2A2):c.963+14C>T rs189551647 0.00039
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) rs149569288 0.00039
NM_175914.5(HNF4A):c.921C>T (p.Asp307=) rs151168174 0.00039
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000208.4(INSR):c.*3359G>A rs146249924 0.00038
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
NM_001807.6(CEL):c.777+7G>A rs200749469 0.00038
NM_001868.4(CPA1):c.79C>T (p.Arg27Ter) rs141209213 0.00038
NM_005327.7(HADH):c.99C>G (p.Ile33Met) rs74428123 0.00038
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000352.6(ABCC8):c.2390+17G>C rs200705248 0.00035
NM_001868.4(CPA1):c.486C>T (p.Phe162=) rs140633988 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) rs148239625 0.00034
NM_000208.4(INSR):c.*1799C>T rs147080388 0.00033
NM_001166108.2(PALLD):c.2976G>A (p.Thr992=) rs143717202 0.00033
NM_002500.5(NEUROD1):c.777C>T (p.Ser259=) rs115027760 0.00033
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
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_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_005271.5(GLUD1):c.*1379C>T rs181813972 0.00030
NM_000208.4(INSR):c.*2565C>T rs117532686 0.00029
NM_000208.4(INSR):c.224A>G (p.Asp75Gly) rs142910337 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_002500.5(NEUROD1):c.738G>A (p.Pro246=) rs115207271 0.00029
NM_007272.3(CTRC):c.231-15C>G rs1298564824 0.00029
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_001626.6(AKT2):c.212A>G (p.Asn71Ser) rs200272953 0.00028
NM_005271.5(GLUD1):c.393C>G (p.Val131=) rs147496974 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_001042413.2(GLIS3):c.2060C>T (p.Ser687Phe) rs374929970 0.00027
NM_003051.4(SLC16A1):c.*1624A>G rs140456426 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000458.4(HNF1B):c.*629C>T rs566057658 0.00026
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln) rs374943049 0.00026
NM_001042413.2(GLIS3):c.2421C>G (p.Ser807=) rs563920093 0.00026
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000208.4(INSR):c.*2456C>T rs145777450 0.00025
NM_000208.4(INSR):c.*3685T>C rs143409422 0.00025
NM_000208.4(INSR):c.*3877T>C rs148660410 0.00025
NM_000209.4(PDX1):c.429G>C (p.Pro143=) rs148001995 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_000352.6(ABCC8):c.1630+8C>T rs200053398 0.00024
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00024
NM_001366110.1(PAX4):c.762C>T (p.Ile254=) rs147670794 0.00024
NM_001626.6(AKT2):c.961-13C>T rs367671463 0.00024
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_001715.3(BLK):c.980A>T (p.Asp327Val) rs138333004 0.00024
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_006005.3(WFS1):c.1419C>T (p.Ser473=) rs150997327 0.00024
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_001042413.2(GLIS3):c.*673T>C rs2380903 0.00023
NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His) rs149840771 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000458.4(HNF1B):c.852C>T (p.His284=) rs149581999 0.00022
NM_001042413.2(GLIS3):c.1327C>T (p.Leu443=) rs529418802 0.00022
NM_001109809.5(ZFP57):c.1118C>G (p.Ser373Cys) rs193232883 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_001379610.1(SPINK1):c.195-21T>A rs377350168 0.00021
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00021
NM_005271.5(GLUD1):c.150G>C (p.Arg50=) rs746606279 0.00021
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) rs141833472 0.00021
NM_006005.3(WFS1):c.712+19C>T rs376973865 0.00021
NM_007272.3(CTRC):c.540G>T (p.Val180=) rs371479067 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_001166108.2(PALLD):c.1965-12840C>G rs587780757 0.00020
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_002769.5(PRSS1):c.621T>C (p.Asn207=) rs146995038 0.00020
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_006005.3(WFS1):c.712+8C>T rs369185545 0.00020
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) rs140266808 0.00020
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=) rs144354798 0.00019
NM_001042413.2(GLIS3):c.-523C>G rs547410899 0.00019
NM_001166108.2(PALLD):c.2101-9G>A rs368890611 0.00019
NM_001626.6(AKT2):c.1176-12G>A rs371347299 0.00019
NM_003597.5(KLF11):c.546C>A (p.Ser182Arg) rs142266428 0.00019
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) rs143672793 0.00019
NM_006005.3(WFS1):c.315+18G>A rs375473654 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_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=) rs5408 0.00018
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=) rs140636367 0.00018
NM_001042413.2(GLIS3):c.89C>T (p.Ala30Val) rs114010705 0.00018
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_006005.3(WFS1):c.2622C>T (p.Ala874=) rs141052196 0.00018
NM_000545.8(HNF1A):c.1500C>T (p.His500=) rs201694197 0.00017
NM_000545.8(HNF1A):c.693G>A (p.Thr231=) rs145240086 0.00017
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001379610.1(SPINK1):c.87+26T>C rs200296519 0.00017
NM_001807.6(CEL):c.1677T>C (p.Pro559=) rs527908529 0.00017
NM_003597.5(KLF11):c.*982G>A rs550807244 0.00017
NM_006005.3(WFS1):c.1755C>T (p.Phe585=) rs1801210 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_000209.4(PDX1):c.210G>T (p.Val70=) rs748725637 0.00016
NM_000209.4(PDX1):c.732C>G (p.Pro244=) rs777512281 0.00016
NM_001166108.2(PALLD):c.1842T>A (p.His614Gln) rs150443035 0.00016
NM_001715.3(BLK):c.93A>G (p.Gln31=) rs369109733 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_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_005327.7(HADH):c.255C>T (p.Asn85=) rs746650397 0.00016
NM_006005.3(WFS1):c.801C>T (p.Asp267=) rs147734431 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_006208.3(ENPP1):c.2114C>T (p.Thr705Met) rs138032713 0.00016
NM_007272.3(CTRC):c.27G>A (p.Ala9=) rs374821228 0.00016
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NC_000017.11:g.37745116G>A rs142612536 0.00015
NM_000458.4(HNF1B):c.*701G>A rs886052888 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_001366110.1(PAX4):c.563-11G>A rs376403180 0.00015
NM_002769.5(PRSS1):c.642C>A (p.Val214=) rs141697925 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp) rs753249965 0.00014
NM_000458.4(HNF1B):c.1046-12G>A rs201751705 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_001166108.2(PALLD):c.1386C>T (p.Cys462=) rs199755853 0.00014
NM_001366110.1(PAX4):c.345G>A (p.Gln115=) rs115157546 0.00014
NM_001807.6(CEL):c.132T>C (p.Gly44=) rs543591885 0.00014
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_175914.5(HNF4A):c.*427G>T rs144306069 0.00014
NM_178161.3(PTF1A):c.102C>T (p.Asp34=) rs199831799 0.00014
NM_000458.4(HNF1B):c.-82G>T rs886052892 0.00013
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys) rs114315130 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=) rs147643871 0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 0.00012
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_003597.5(KLF11):c.*2274G>A rs149368043 0.00012
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000208.4(INSR):c.*1192G>A rs142596192 0.00011
NM_000208.4(INSR):c.225C>T (p.Asp75=) rs41352749 0.00011
NM_000458.4(HNF1B):c.420C>T (p.Val140=) rs370134885 0.00011
NM_000545.8(HNF1A):c.*267T>C rs571084139 0.00011
NM_000545.8(HNF1A):c.*865G>A rs571134960 0.00011
NM_000545.8(HNF1A):c.1272T>C (p.Pro424=) rs141324437 0.00011
NM_001166108.2(PALLD):c.2723G>A (p.Arg908His) rs114171764 0.00011
NM_001379610.1(SPINK1):c.192T>C (p.Asn64=) rs765307896 0.00011
NM_001715.3(BLK):c.772+16C>T rs200129390 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 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_005271.5(GLUD1):c.195C>T (p.Asn65=) rs760817479 0.00011
NM_005327.7(HADH):c.144A>C (p.Ala48=) rs79881095 0.00011
NM_005327.7(HADH):c.827-10C>T rs372610846 0.00011
NM_006005.3(WFS1):c.1752G>A (p.Gln584=) rs76577786 0.00011
NM_024675.4(PALB2):c.1455T>G (p.Thr485=) rs566105533 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=) rs199541853 0.00010
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=) rs778961697 0.00010
NM_001042413.2(GLIS3):c.1326C>T (p.Asp442=) rs758928731 0.00010
NM_001166108.2(PALLD):c.3087T>A (p.Phe1029Leu) rs189021816 0.00010
NM_001166108.2(PALLD):c.3321A>G (p.Ala1107=) rs764265611 0.00010
NM_001166108.2(PALLD):c.3351C>T (p.Asp1117=) rs115937217 0.00010
NM_001715.3(BLK):c.18C>T (p.Ser6=) rs113656715 0.00010
NM_001868.4(CPA1):c.630C>T (p.Leu210=) rs377138792 0.00010
NM_178161.3(PTF1A):c.229G>A (p.Ala77Thr) rs549685905 0.00010
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=) rs368134766 0.00009
NM_000458.4(HNF1B):c.1534+11G>A rs373875820 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00009
NM_000545.8(HNF1A):c.225C>T (p.Asp75=) rs202180554 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_001166108.2(PALLD):c.2975C>T (p.Thr992Met) rs750033888 0.00009
NM_001366110.1(PAX4):c.498C>T (p.His166=) rs143156250 0.00009
NM_005271.5(GLUD1):c.102G>C (p.Arg34=) rs896457764 0.00009
NM_005271.5(GLUD1):c.468G>A (p.Val156=) rs780979729 0.00009
NM_006005.3(WFS1):c.1494C>T (p.Val498=) rs778206175 0.00009
NM_006005.3(WFS1):c.1770G>A (p.Thr590=) rs71532858 0.00009
NM_006005.3(WFS1):c.747G>A (p.Glu249=) rs752638064 0.00009
NM_006005.3(WFS1):c.862-19C>T rs370767782 0.00009
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) rs368742582 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_175914.5(HNF4A):c.*977C>G rs367907885 0.00009
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) rs374298096 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) rs376766937 0.00008
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=) rs368782953 0.00008
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545 0.00008
NM_000352.6(ABCC8):c.765C>T (p.Ile255=) rs753335564 0.00008
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=) rs370300688 0.00008
NM_001042413.2(GLIS3):c.1984-16C>T rs145670205 0.00008
NM_001166108.2(PALLD):c.1965-12857G>A rs952110792 0.00008
NM_001868.4(CPA1):c.774C>T (p.Asp258=) rs368689434 0.00008
NM_003597.5(KLF11):c.1161C>T (p.Asp387=) rs117449189 0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_006005.3(WFS1):c.1148G>A (p.Arg383His) rs369450642 0.00008
NM_006005.3(WFS1):c.2391C>T (p.Asp797=) rs548415089 0.00008
NM_006005.3(WFS1):c.393C>T (p.Val131=) rs758199900 0.00008
NM_007272.3(CTRC):c.40+10G>A rs564455614 0.00008
NM_000209.4(PDX1):c.498A>G (p.Leu166=) rs780117858 0.00007
NM_000340.2(SLC2A2):c.372-16C>T rs372176041 0.00007
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375 0.00007
NM_000458.4(HNF1B):c.1534+10C>T rs368168569 0.00007
NM_001042413.2(GLIS3):c.1686T>G (p.Ser562=) rs745836279 0.00007
NM_001166108.2(PALLD):c.1965-12569G>A rs568490721 0.00007
NM_001166108.2(PALLD):c.1965-12817C>T rs1211489449 0.00007
NM_001166108.2(PALLD):c.413G>A (p.Arg138Gln) rs138665337 0.00007
NM_001715.3(BLK):c.859G>A (p.Val287Met) rs1042687 0.00007
NM_001868.4(CPA1):c.141C>T (p.His47=) rs535901465 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_007272.3(CTRC):c.356+17C>G rs376786664 0.00007
NM_007272.3(CTRC):c.531G>A (p.Leu177=) rs751747891 0.00007
NM_024675.4(PALB2):c.2032C>T (p.Leu678=) rs376189676 0.00007
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000162.5(GCK):c.600G>A (p.Val200=) rs773561406 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000458.4(HNF1B):c.1339+17G>A rs374854968 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met) rs529884745 0.00006
NM_000545.8(HNF1A):c.*391G>C rs868177605 0.00006
NM_000545.8(HNF1A):c.1011C>T (p.Ser337=) rs549471872 0.00006
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=) rs376279459 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_000545.8(HNF1A):c.954C>T (p.His318=) rs193922607 0.00006
NM_000545.8(HNF1A):c.99G>A (p.Pro33=) rs538619966 0.00006
NM_001042413.2(GLIS3):c.1395T>C (p.His465=) rs752606768 0.00006
NM_001166108.2(PALLD):c.-8G>A rs372273201 0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 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_001626.6(AKT2):c.1023C>T (p.Tyr341=) rs147634759 0.00006
NM_001715.3(BLK):c.675G>A (p.Pro225=) rs761122806 0.00006
NM_001807.6(CEL):c.670-4G>A rs371303105 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_002500.5(NEUROD1):c.1050C>G (p.Leu350=) rs778703927 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.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_003597.5(KLF11):c.1130C>T (p.Thr377Ile) rs370236540 0.00006
NM_003597.5(KLF11):c.679A>G (p.Asn227Asp) rs200561467 0.00006
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) rs141883293 0.00006
NM_006005.3(WFS1):c.315+17C>T rs766977344 0.00006
NM_006005.3(WFS1):c.514C>T (p.Leu172=) rs371632935 0.00006
NM_006005.3(WFS1):c.642G>A (p.Ala214=) rs761245713 0.00006
NM_006208.3(ENPP1):c.2445-5T>C rs369942606 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_012096.3(APPL1):c.1926A>G (p.Ile642Met) rs183787750 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_032609.3(COX4I2):c.408G>A (p.Thr136=) rs375116097 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_175914.5(HNF4A):c.225-8C>T rs759922116 0.00006
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln) rs764196059 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_175914.5(HNF4A):c.826+79C>T rs773386088 0.00006
NM_175914.5(HNF4A):c.840G>A (p.Leu280=) rs181559088 0.00006
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00005
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=) rs556416269 0.00005
NM_000458.4(HNF1B):c.1239C>T (p.Val413=) rs201113814 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_001042413.2(GLIS3):c.2297+16T>C rs377104078 0.00005
NM_001166108.2(PALLD):c.1965-13025C>T rs952079408 0.00005
NM_001166108.2(PALLD):c.229G>C (p.Glu77Gln) rs376732578 0.00005
NM_001166108.2(PALLD):c.366T>G (p.Pro122=) rs377747204 0.00005
NM_001626.6(AKT2):c.395C>T (p.Thr132Met) rs143335817 0.00005
NM_001626.6(AKT2):c.442-12T>C rs773981622 0.00005
NM_001868.4(CPA1):c.1218G>A (p.Ala406=) rs569595458 0.00005
NM_002769.5(PRSS1):c.366C>T (p.Arg122=) rs201487096 0.00005
NM_005271.5(GLUD1):c.585T>C (p.Asp195=) rs756647962 0.00005
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_005327.7(HADH):c.709+18G>A rs369931989 0.00005
NM_006005.3(WFS1):c.1026C>T (p.Ala342=) rs777072078 0.00005
NM_006005.3(WFS1):c.444C>T (p.Cys148=) rs998539254 0.00005
NM_006005.3(WFS1):c.477C>T (p.Asn159=) rs753964845 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_175914.5(HNF4A):c.*2182G>A rs138556808 0.00005
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_175914.5(HNF4A):c.670+7C>T rs376544046 0.00005
NM_000162.5(GCK):c.1068G>T (p.Gly356=) rs369103069 0.00004
NM_000162.5(GCK):c.203G>A (p.Gly68Asp) rs373418736 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=) rs112488640 0.00004
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=) rs771106160 0.00004
NM_000352.6(ABCC8):c.480C>T (p.His160=) rs769858502 0.00004
NM_000458.4(HNF1B):c.1008C>T (p.His336=) rs150268130 0.00004
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=) rs780554506 0.00004
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) rs768490293 0.00004
NM_000525.4(KCNJ11):c.54A>G (p.Ala18=) rs193922564 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=) rs772756175 0.00004
NM_000545.8(HNF1A):c.1502-14T>C rs765596650 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.713+13G>A rs755961371 0.00004
NM_001042413.2(GLIS3):c.*3601C>A rs553410195 0.00004
NM_001166108.2(PALLD):c.1965-12574C>T rs763225090 0.00004
NM_001166108.2(PALLD):c.1965-12896C>T rs1319983866 0.00004
NM_001166108.2(PALLD):c.1965-12898C>A rs1025237623 0.00004
NM_001166108.2(PALLD):c.2473-4A>G rs765144938 0.00004
NM_001166108.2(PALLD):c.2901C>T (p.Pro967=) rs533269596 0.00004
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974 0.00004
NM_001379610.1(SPINK1):c.111T>C (p.Asn37=) rs769216699 0.00004
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg) rs760077990 0.00004
NM_001626.6(AKT2):c.708+9C>T rs377332467 0.00004
NM_001715.3(BLK):c.*371C>A rs774038408 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 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.726C>T (p.His242=) rs782178812 0.00004
NM_001868.4(CPA1):c.93C>T (p.Ala31=) rs565451182 0.00004
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser) rs368727469 0.00004
NM_002769.5(PRSS1):c.291C>G (p.Pro97=) rs200763933 0.00004
NM_002769.5(PRSS1):c.456C>T (p.Ala152=) rs777261723 0.00004
NM_002769.5(PRSS1):c.6T>A (p.Asn2Lys) rs140591237 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_005271.5(GLUD1):c.48C>G (p.Pro16=) rs1313982001 0.00004
NM_005327.7(HADH):c.324C>T (p.Ser108=) rs373153417 0.00004
NM_005327.7(HADH):c.384C>T (p.Asn128=) rs369550874 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_005327.7(HADH):c.795C>T (p.Val265=) rs143416676 0.00004
NM_006005.3(WFS1):c.1320C>T (p.Thr440=) rs762339922 0.00004
NM_006005.3(WFS1):c.1929C>T (p.Ile643=) rs544473222 0.00004
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=) rs375408391 0.00004
NM_006005.3(WFS1):c.2349C>T (p.Phe783=) rs759746525 0.00004
NM_006005.3(WFS1):c.2520C>T (p.Phe840=) rs777254962 0.00004
NM_006005.3(WFS1):c.2607C>T (p.Ser869=) rs1410561677 0.00004
NM_006005.3(WFS1):c.2619C>T (p.Gly873=) rs370977482 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.81C>T (p.Ser27=) rs749455108 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4484+61G>T rs80358185 0.00004
NM_024675.4(PALB2):c.2834+13C>A rs551516577 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_175914.5(HNF4A):c.*1C>A rs201330472 0.00004
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=) rs751892618 0.00004
NM_175914.5(HNF4A):c.468G>A (p.Ala156=) rs758124162 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000162.5(GCK):c.138G>A (p.Arg46=) rs550111033 0.00003
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) rs759514960 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000207.3(INS):c.130G>A (p.Gly44Arg) rs765512575 0.00003
NM_000208.4(INSR):c.*2014C>T rs556567528 0.00003
NM_000340.2(SLC2A2):c.109-19A>G rs182772346 0.00003
NM_000352.6(ABCC8):c.603G>A (p.Pro201=) rs765113879 0.00003
NM_000352.6(ABCC8):c.822+7G>A rs765890511 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000458.4(HNF1B):c.*88A>G rs762266343 0.00003
NM_000458.4(HNF1B):c.100C>T (p.Leu34=) rs373201245 0.00003
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135 0.00003
NM_000525.4(KCNJ11):c.579C>T (p.His193=) rs762089425 0.00003
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_000545.8(HNF1A):c.30G>A (p.Thr10=) rs746020457 0.00003
NM_001042413.2(GLIS3):c.*1166G>A rs371759528 0.00003
NM_001042413.2(GLIS3):c.*1636G>T rs183582256 0.00003
NM_001042413.2(GLIS3):c.1263C>T (p.Asp421=) rs755713904 0.00003
NM_001166108.2(PALLD):c.1965-12635C>T rs1385998898 0.00003
NM_001166108.2(PALLD):c.1965-12737C>T rs1060504775 0.00003
NM_001166108.2(PALLD):c.1965-12803G>A rs1477864263 0.00003
NM_001166108.2(PALLD):c.1965-12944G>C rs1231114395 0.00003
NM_001166108.2(PALLD):c.1965-12950C>T rs1346040206 0.00003
NM_001166108.2(PALLD):c.1965-13001C>G rs1239099971 0.00003
NM_001166108.2(PALLD):c.3224+14A>G rs766796340 0.00003
NM_001166108.2(PALLD):c.3358+9C>G rs746599370 0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_001379610.1(SPINK1):c.56-15C>T rs1172632130 0.00003
NM_001626.6(AKT2):c.288-17C>T rs373327049 0.00003
NM_001626.6(AKT2):c.573+8C>T rs200843500 0.00003
NM_001626.6(AKT2):c.699C>T (p.Asn233=) rs765477884 0.00003
NM_001626.6(AKT2):c.711G>C (p.Leu237=) rs776435289 0.00003
NM_001868.4(CPA1):c.1002G>A (p.Lys334=) rs940900312 0.00003
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 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.457G>A (p.Asp153Asn) rs61735002 0.00003
NM_002769.5(PRSS1):c.615C>T (p.Val205=) rs771252966 0.00003
NM_005327.7(HADH):c.486A>G (p.Arg162=) rs377521547 0.00003
NM_005327.7(HADH):c.714C>T (p.Asp238=) rs201739885 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_006005.3(WFS1):c.1008C>G (p.Leu336=) rs755063164 0.00003
NM_006005.3(WFS1):c.1680C>T (p.Ser560=) rs760906868 0.00003
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) rs201102144 0.00003
NM_006005.3(WFS1):c.882C>T (p.His294=) rs571928866 0.00003
NM_007272.3(CTRC):c.174G>A (p.Thr58=) rs746721892 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.69G>A (p.Pro23=) rs756394210 0.00003
NM_007272.3(CTRC):c.84C>T (p.Ala28=) rs779009847 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_175914.5(HNF4A):c.*168G>T rs1045382698 0.00003
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=) rs142268325 0.00003
NM_175914.5(HNF4A):c.1064-18G>A rs773235761 0.00003
NM_175914.5(HNF4A):c.657C>T (p.Asp219=) rs376586083 0.00003
NM_175914.5(HNF4A):c.924G>T (p.Ser308=) rs140146223 0.00003
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.1285A>C (p.Arg429=) rs140672134 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000162.5(GCK):c.774C>T (p.Gly258=) rs780806456 0.00002
NM_000162.5(GCK):c.849C>T (p.Asn283=) rs199851776 0.00002
NM_000340.2(SLC2A2):c.371+19T>C rs752870085 0.00002
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=) rs371181016 0.00002
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=) rs779736828 0.00002
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=) rs754554936 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.702C>T (p.Asn234=) rs758289249 0.00002
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly) rs375625110 0.00002
NM_000492.4(CFTR):c.1050C>G (p.Val350=) rs1038437842 0.00002
NM_000492.4(CFTR):c.3033A>G (p.Leu1011=) rs773752573 0.00002
NM_000525.4(KCNJ11):c.*40C>T rs746850899 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.264G>A (p.Glu88=) rs201223431 0.00002
NM_000545.8(HNF1A):c.978G>A (p.Ala326=) rs200351196 0.00002
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_001166108.2(PALLD):c.*109G>A rs1002500543 0.00002
NM_001166108.2(PALLD):c.*124C>T rs369747738 0.00002
NM_001166108.2(PALLD):c.1965-12514G>A rs1355423115 0.00002
NM_001166108.2(PALLD):c.1965-12566C>T rs864622158 0.00002
NM_001166108.2(PALLD):c.1965-12587C>T rs1460784357 0.00002
NM_001166108.2(PALLD):c.1965-12592C>T rs1400689367 0.00002
NM_001166108.2(PALLD):c.1965-12800C>T rs863224383 0.00002
NM_001166108.2(PALLD):c.1965-12875G>A rs587780755 0.00002
NM_001166108.2(PALLD):c.1965-12962C>T rs987749164 0.00002
NM_001166108.2(PALLD):c.2101-10C>T rs757885388 0.00002
NM_001166108.2(PALLD):c.2130T>C (p.Arg710=) rs749041581 0.00002
NM_001166108.2(PALLD):c.2850+15T>C rs977479187 0.00002
NM_001166108.2(PALLD):c.2891A>C (p.Asp964Ala) rs750112132 0.00002
NM_001166108.2(PALLD):c.2961C>T (p.Ile987=) rs1484758238 0.00002
NM_001166108.2(PALLD):c.2988C>T (p.Ala996=) rs748161189 0.00002
NM_001166108.2(PALLD):c.3243C>T (p.His1081=) rs779615947 0.00002
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367 0.00002
NM_001626.6(AKT2):c.1065C>T (p.His355=) rs781682925 0.00002
NM_001715.3(BLK):c.27G>A (p.Pro9=) rs536630306 0.00002
NM_001868.4(CPA1):c.204C>T (p.Pro68=) rs781840776 0.00002
NM_001868.4(CPA1):c.787+1G>A rs782790782 0.00002
NM_001868.4(CPA1):c.792C>T (p.Ser264=) rs782313134 0.00002
NM_001868.4(CPA1):c.825C>T (p.Tyr275=) rs782346209 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.454+19C>A rs1414385892 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_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005271.5(GLUD1):c.432G>T (p.Thr144=) rs1423075857 0.00002
NM_005271.5(GLUD1):c.526+11G>A rs757850230 0.00002
NM_005271.5(GLUD1):c.527-4T>G rs779153065 0.00002
NM_005327.7(HADH):c.261+17G>A rs185657456 0.00002
NM_005327.7(HADH):c.827-9G>A rs1363052334 0.00002
NM_006208.3(ENPP1):c.1274-5C>T rs751500820 0.00002
NM_006996.3(SLC19A2):c.1276G>A (p.Val426Ile) rs1231702573 0.00002
NM_007272.3(CTRC):c.133-19C>G rs777418401 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.768C>T (p.Ser256=) rs778166573 0.00002
NM_007272.3(CTRC):c.82G>A (p.Ala28Thr) rs768414501 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) rs748363227 0.00002
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=) rs758836138 0.00002
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=) rs779075029 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000162.5(GCK):c.1248C>T (p.His416=) rs766653778 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala) rs182552223 0.00001
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys) rs13306449 0.00001
NM_000208.4(INSR):c.624A>G (p.Arg208=) rs759705666 0.00001
NM_000209.4(PDX1):c.216C>T (p.Pro72=) rs193922353 0.00001
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=) rs776713811 0.00001
NM_000352.6(ABCC8):c.148+13A>C rs773823246 0.00001
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=) rs750360514 0.00001
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=) rs757507467 0.00001
NM_000352.6(ABCC8):c.2256-3C>T rs756328102 0.00001
NM_000352.6(ABCC8):c.2475+19G>A rs373894772 0.00001
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=) rs1954592292 0.00001
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=) rs1387302006 0.00001
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362 0.00001
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=) rs965734923 0.00001
NM_000352.6(ABCC8):c.4569G>A (p.Val1523=) rs1953753838 0.00001
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442 0.00001
NM_000352.6(ABCC8):c.660C>T (p.Pro220=) rs773643362 0.00001
NM_000352.6(ABCC8):c.894C>A (p.Arg298=) rs375094504 0.00001
NM_000458.4(HNF1B):c.*789T>C rs886052887 0.00001
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) rs780035561 0.00001
NM_000458.4(HNF1B):c.1414G>A (p.Val472Ile) rs762841746 0.00001
NM_000458.4(HNF1B):c.66C>A (p.Thr22=) rs906719754 0.00001
NM_000458.4(HNF1B):c.699C>T (p.Arg233=) rs1365215108 0.00001
NM_000458.4(HNF1B):c.810-17C>T rs759382717 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
NM_000458.4(HNF1B):c.974G>A (p.Ser325Asn) rs794727624 0.00001
NM_000525.4(KCNJ11):c.36C>T (p.Tyr12=) rs104894236 0.00001
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=) rs761588360 0.00001
NM_000525.4(KCNJ11):c.561G>A (p.Ala187=) rs1260020267 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00001
NM_000545.8(HNF1A):c.1281C>T (p.Thr427=) rs1345001140 0.00001
NM_000545.8(HNF1A):c.153C>T (p.Gly51=) rs761779651 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=) rs762669462 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_000545.8(HNF1A):c.503G>A (p.Arg168His) rs377110124 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000545.8(HNF1A):c.759G>T (p.Gly253=) rs749946974 0.00001
NM_000545.8(HNF1A):c.766T>A (p.Ser256Thr) rs781711191 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_001042413.2(GLIS3):c.1272G>A (p.Ser424=) rs764287243 0.00001
NM_001042413.2(GLIS3):c.1973C>G (p.Ala658Gly) rs977500969 0.00001
NM_001042413.2(GLIS3):c.555A>C (p.Ala185=) rs752433935 0.00001
NM_001166108.2(PALLD):c.*100A>G rs754444061 0.00001
NM_001166108.2(PALLD):c.*163C>T rs777453756 0.00001
NM_001166108.2(PALLD):c.*187A>G rs1177108180 0.00001
NM_001166108.2(PALLD):c.*196G>A rs896702235 0.00001
NM_001166108.2(PALLD):c.*67A>G rs1424841441 0.00001
NM_001166108.2(PALLD):c.1965-12519C>G rs1358006173 0.00001
NM_001166108.2(PALLD):c.1965-12556C>T rs878854265 0.00001
NM_001166108.2(PALLD):c.1965-12575G>A rs554297134 0.00001
NM_001166108.2(PALLD):c.1965-12617G>A rs1046350904 0.00001
NM_001166108.2(PALLD):c.1965-12671G>A rs1048578217 0.00001
NM_001166108.2(PALLD):c.1965-12686G>A rs1275232115 0.00001
NM_001166108.2(PALLD):c.1965-12703C>T rs1232895995 0.00001
NM_001166108.2(PALLD):c.1965-12718C>T rs570874237 0.00001
NM_001166108.2(PALLD):c.1965-12735C>G rs1434151476 0.00001
NM_001166108.2(PALLD):c.1965-12866C>T rs996343137 0.00001
NM_001166108.2(PALLD):c.1965-12872C>T rs1752030193 0.00001
NM_001166108.2(PALLD):c.1965-12878G>A rs1752028956 0.00001
NM_001166108.2(PALLD):c.1965-12890G>A rs1252109828 0.00001
NM_001166108.2(PALLD):c.1965-12968G>A rs1442067136 0.00001
NM_001166108.2(PALLD):c.1965-12971C>T rs752730979 0.00001
NM_001166108.2(PALLD):c.1965-8T>C rs1374341509 0.00001
NM_001166108.2(PALLD):c.1965-9dup rs769161509 0.00001
NM_001166108.2(PALLD):c.2007C>T (p.Ser669=) rs561075148 0.00001
NM_001166108.2(PALLD):c.2100+12T>G rs1178801747 0.00001
NM_001166108.2(PALLD):c.2112C>T (p.Tyr704=) rs372414187 0.00001
NM_001166108.2(PALLD):c.2133A>G (p.Arg711=) rs374250410 0.00001
NM_001166108.2(PALLD):c.2148C>T (p.Asp716=) rs1335231320 0.00001
NM_001166108.2(PALLD):c.2175G>A (p.Glu725=) rs762267147 0.00001
NM_001166108.2(PALLD):c.2268C>T (p.Ser756=) rs931772731 0.00001
NM_001166108.2(PALLD):c.2304G>A (p.Arg768=) rs748432333 0.00001
NM_001166108.2(PALLD):c.2382A>G (p.Pro794=) rs757114919 0.00001
NM_001166108.2(PALLD):c.2517T>C (p.Asp839=) rs934779804 0.00001
NM_001166108.2(PALLD):c.2532A>G (p.Gln844=) rs754158038 0.00001
NM_001166108.2(PALLD):c.2622+9G>A rs769517051 0.00001
NM_001166108.2(PALLD):c.2688G>T (p.Arg896=) rs1257537496 0.00001
NM_001166108.2(PALLD):c.2745A>G (p.Gly915=) rs200328911 0.00001
NM_001166108.2(PALLD):c.2862A>G (p.Leu954=) rs1306143762 0.00001
NM_001166108.2(PALLD):c.2867C>T (p.Thr956Ile) rs371498362 0.00001
NM_001166108.2(PALLD):c.2904A>G (p.Val968=) rs781313666 0.00001
NM_001166108.2(PALLD):c.2922C>T (p.His974=) rs1445122482 0.00001
NM_001166108.2(PALLD):c.3066A>G (p.Glu1022=) rs773814059 0.00001
NM_001166108.2(PALLD):c.3145C>T (p.Arg1049Cys) rs548068667 0.00001
NM_001166108.2(PALLD):c.3177T>C (p.Phe1059=) rs778134231 0.00001
NM_001166108.2(PALLD):c.3258G>A (p.Leu1086=) rs150256686 0.00001
NM_001166108.2(PALLD):c.3358+7_3358+8dup rs1560937938 0.00001
NM_001166108.2(PALLD):c.472C>A (p.His158Asn) rs777197884 0.00001
NM_001166108.2(PALLD):c.608G>T (p.Gly203Val) rs770458533 0.00001
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) rs754439156 0.00001
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly) rs1057524885 0.00001
NM_001378454.1(ALMS1):c.2212G>A (p.Glu738Lys) rs1057524883 0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387 0.00001
NM_001378454.1(ALMS1):c.6037G>T (p.Ala2013Ser) rs1057524884 0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly) rs768090632 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.194+15G>C rs371154048 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 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_001626.6(AKT2):c.1069C>T (p.Arg357Cys) rs1026908617 0.00001
NM_001626.6(AKT2):c.126C>T (p.Pro42=) rs1347826243 0.00001
NM_001626.6(AKT2):c.1413C>G (p.Pro471=) rs199536208 0.00001
NM_001626.6(AKT2):c.288-6G>C rs189986892 0.00001
NM_001626.6(AKT2):c.39C>T (p.His13=) rs1299106420 0.00001
NM_001626.6(AKT2):c.757C>T (p.Arg253Trp) rs781527200 0.00001
NM_001626.6(AKT2):c.832-7C>T rs536687170 0.00001
NM_001715.3(BLK):c.1371C>T (p.Pro457=) rs1356289485 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.222G>T (p.Ala74=) rs781880789 0.00001
NM_001868.4(CPA1):c.273G>A (p.Glu91=) rs371709718 0.00001
NM_001868.4(CPA1):c.2T>C (p.Met1Thr) rs142127319 0.00001
NM_001868.4(CPA1):c.330G>T (p.Arg110=) rs1260418233 0.00001
NM_001868.4(CPA1):c.36G>A (p.Gly12=) rs782329501 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.522C>T (p.Ile174=) rs1554411490 0.00001
NM_001868.4(CPA1):c.582G>A (p.Lys194=) rs782749933 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.894C>T (p.Asn298=) rs1437424820 0.00001
NM_002769.5(PRSS1):c.138C>T (p.His46=) rs929867235 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.234C>T (p.Ile78=) rs200801370 0.00001
NM_002769.5(PRSS1):c.342C>T (p.Ser114=) rs776924834 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.40+18C>A rs753283798 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.462C>T (p.Tyr154=) rs763292560 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.721A>G (p.Asn241Asp) rs141554682 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_003051.4(SLC16A1):c.404T>C (p.Ile135Thr) rs1570620206 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.129G>C (p.Pro43=) rs140734189 0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005271.5(GLUD1):c.168G>A (p.Ala56=) rs930453131 0.00001
NM_005271.5(GLUD1):c.200T>C (p.Phe67Ser) rs1401755923 0.00001
NM_005271.5(GLUD1):c.527-12C>T rs780201965 0.00001
NM_005271.5(GLUD1):c.594G>A (p.Leu198=) rs781638449 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg) rs761375132 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.579A>G (p.Thr193=) rs762771153 0.00001
NM_005327.7(HADH):c.696G>A (p.Arg232=) rs747476251 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_006005.3(WFS1):c.1179C>T (p.Ala393=) rs746433560 0.00001
NM_006005.3(WFS1):c.1365G>A (p.Thr455=) rs769749907 0.00001
NM_006005.3(WFS1):c.1560G>A (p.Gln520=) rs776513501 0.00001
NM_006005.3(WFS1):c.2286G>A (p.Lys762=) rs200663929 0.00001
NM_006005.3(WFS1):c.2388C>T (p.Asp796=) rs71532868 0.00001
NM_006005.3(WFS1):c.33C>A (p.Ser11=) rs1185590827 0.00001
NM_006005.3(WFS1):c.816C>T (p.Asp272=) rs762774307 0.00001
NM_006208.3(ENPP1):c.2311+8A>G rs760047831 0.00001
NM_006208.3(ENPP1):c.795+12A>G rs1781980876 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.210C>A (p.Leu70=) rs766739002 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.264G>A (p.Lys88=) rs575397166 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+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.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.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007272.3(CTRC):c.606C>T (p.Cys202=) rs543348635 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.68C>T (p.Pro23Leu) rs533967597 0.00001
NM_007272.3(CTRC):c.759C>T (p.Thr253=) rs1325006359 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_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_024675.4(PALB2):c.1164T>C (p.Pro388=) rs1205215998 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2587-12C>T rs1266683395 0.00001
NM_024675.4(PALB2):c.2784G>A (p.Val928=) rs763411245 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.2985A>T (p.Ala995=) rs786202892 0.00001
NM_024675.4(PALB2):c.3202-9C>T rs757444247 0.00001
NM_024675.4(PALB2):c.3350+16T>G rs515726115 0.00001
NM_024675.4(PALB2):c.735G>A (p.Ala245=) rs371612049 0.00001
NM_175914.5(HNF4A):c.*2639T>G rs886056690 0.00001
NM_175914.5(HNF4A):c.*3120T>C rs886056704 0.00001
NM_175914.5(HNF4A):c.-79C>T rs373143621 0.00001
NM_175914.5(HNF4A):c.1069C>G (p.Pro357Ala) rs201319115 0.00001
NM_175914.5(HNF4A):c.123C>T (p.Cys41=) rs147552575 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.126G>C (p.Gly42=) rs781364773 0.00001
NM_175914.5(HNF4A):c.1302C>T (p.Ile434=) rs199884828 0.00001
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) rs138290205 0.00001
NM_175914.5(HNF4A):c.489A>G (p.Ala163=) rs1568731613 0.00001
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00001
NM_175914.5(HNF4A):c.81C>T (p.Asn27=) rs570058788 0.00001
NM_175914.5(HNF4A):c.906C>T (p.Asn302=) rs186151007 0.00001
NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr) rs565666569 0.00001
GCK:c.864-159_864-149del rs386134235
NC_000007.14:g.117479807G>C rs139688774
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000162.5(GCK):c.1020-10C>T rs193922257
NM_000162.5(GCK):c.1086C>T (p.Thr362=)
NM_000162.5(GCK):c.1137G>A (p.Ala379=)
NM_000162.5(GCK):c.1155G>A (p.Gly385=)
NM_000162.5(GCK):c.115_117del (p.Lys39del) rs2096283216
NM_000162.5(GCK):c.1161G>C (p.Ala387=)
NM_000162.5(GCK):c.117G>A (p.Lys39=) rs193922270
NM_000162.5(GCK):c.1182C>T (p.Arg394=)
NM_000162.5(GCK):c.1233C>G (p.Ser411=) rs755112715
NM_000162.5(GCK):c.1317C>T (p.Ile439=) rs1554334455
NM_000162.5(GCK):c.132C>T (p.Gly44=)
NM_000162.5(GCK):c.1359G>T (p.Ser453=)
NM_000162.5(GCK):c.1389G>A (p.Leu463=)
NM_000162.5(GCK):c.1A>T (p.Met1Leu)
NM_000162.5(GCK):c.237G>A (p.Leu79=)
NM_000162.5(GCK):c.264G>A (p.Leu88=)
NM_000162.5(GCK):c.300C>T (p.Ser100=)
NM_000162.5(GCK):c.360G>A (p.Glu120=)
NM_000162.5(GCK):c.447C>T (p.Thr149=)
NM_000162.5(GCK):c.450C>T (p.Phe150=) rs193922299
NM_000162.5(GCK):c.46-5907_46-5906dup rs60650959
NM_000162.5(GCK):c.525A>G (p.Gly175=)
NM_000162.5(GCK):c.534G>A (p.Gly178=)
NM_000162.5(GCK):c.556C>A (p.Arg186=)
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000162.5(GCK):c.580-13T>C rs1386067636
NM_000162.5(GCK):c.723G>A (p.Val241=) rs193922324
NM_000162.5(GCK):c.726G>A (p.Glu242=) rs373582283
NM_000162.5(GCK):c.750C>G (p.Arg250=)
NM_000162.5(GCK):c.756C>T (p.Cys252=)
NM_000162.5(GCK):c.852C>T (p.Pro284=)
NM_000162.5(GCK):c.909G>T (p.Arg303=) rs1583594459
NM_000162.5(GCK):c.921C>G (p.Leu307=)
NM_000162.5(GCK):c.942G>A (p.Leu314=)
NM_000162.5(GCK):c.951C>T (p.His317=)
NM_000162.5(GCK):c.996G>A (p.Thr332=)
NM_000207.3(INS):c.-152C>G rs748749585
NM_000207.3(INS):c.153A>G (p.Thr51=) rs773789432
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000207.3(INS):c.72C>A (p.Ala24=) rs539284976
NM_000208.4(INSR):c.*130A>T rs571448308
NM_000208.4(INSR):c.*3365C>A rs561270909
NM_000208.4(INSR):c.1513A>G (p.Ile505Val) rs1599937384
NM_000208.4(INSR):c.3661T>G (p.Ser1221Ala) rs201979105
NM_000208.4(INSR):c.489C>A (p.Ile163=) rs530955658
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641
NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro)
NM_000209.4(PDX1):c.231C>T (p.Pro77=)
NM_000209.4(PDX1):c.234G>T (p.Ala78=)
NM_000209.4(PDX1):c.258C>T (p.Leu86=)
NM_000209.4(PDX1):c.288C>G (p.Pro96=)
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000209.4(PDX1):c.318G>T (p.Pro106=) rs193922354
NM_000209.4(PDX1):c.339C>T (p.Asn113=)
NM_000209.4(PDX1):c.442C>A (p.Arg148=)
NM_000209.4(PDX1):c.453G>A (p.Thr151=)
NM_000209.4(PDX1):c.471G>A (p.Gln157=)
NM_000209.4(PDX1):c.528G>T (p.Arg176=)
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.693C>G (p.Ser231=)
NM_000209.4(PDX1):c.693C>T (p.Ser231=) rs200411304
NM_000209.4(PDX1):c.708G>C (p.Leu236=)
NM_000209.4(PDX1):c.816C>T (p.Ser272=)
NM_000209.4(PDX1):c.825G>C (p.Ala275=)
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly) rs1955658642
NM_000352.6(ABCC8):c.2256-16del rs774508952
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=) rs766321878
NM_000352.6(ABCC8):c.3168C>T (p.Cys1056=) rs1799860
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=) rs762412267
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=) rs775699878
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.413-5G>C rs186946111
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=) rs1250433233
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=) rs1953794808
NM_000352.6(ABCC8):c.795G>T (p.Arg265=) rs1386314454
NM_000455.5(STK11):c.486C>T (p.Asp162=) rs1269329328
NM_000455.5(STK11):c.558C>T (p.Thr186=) rs749563734
NM_000455.5(STK11):c.747C>T (p.Thr249=) rs759546076
NM_000458.4(HNF1B):c.*37G>A rs1555818071
NM_000458.4(HNF1B):c.1006C>A (p.His336Asn) rs138986885
NM_000458.4(HNF1B):c.1116C>T (p.Ser372=) rs775094591
NM_000458.4(HNF1B):c.1152C>A (p.Val384=)
NM_000458.4(HNF1B):c.1188C>T (p.Leu396=)
NM_000458.4(HNF1B):c.1206+42_1206+46del rs142240844
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=) rs776536485
NM_000458.4(HNF1B):c.1339+12T>C rs1375568430
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.1396C>G (p.Leu466Val) rs1555821665
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg) rs886052891
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.1505C>A (p.Ala502Glu) rs2032548578
NM_000458.4(HNF1B):c.150T>G (p.Pro50=) rs2034119944
NM_000458.4(HNF1B):c.1614C>T (p.Ser538=) rs1568636744
NM_000458.4(HNF1B):c.165G>A (p.Glu55=)
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.300C>G (p.Thr100=)
NM_000458.4(HNF1B):c.300C>T (p.Thr100=) rs369134247
NM_000458.4(HNF1B):c.309G>C (p.Ala103=) rs1197263675
NM_000458.4(HNF1B):c.375C>A (p.Ile125=)
NM_000458.4(HNF1B):c.402C>T (p.Ile134=) rs1555831433
NM_000458.4(HNF1B):c.429C>T (p.Thr143=)
NM_000458.4(HNF1B):c.438C>T (p.Asn146=) rs2033930573
NM_000458.4(HNF1B):c.544+14T>A rs759120365
NM_000458.4(HNF1B):c.60G>A (p.Gly20=)
NM_000458.4(HNF1B):c.618T>C (p.Phe206=)
NM_000458.4(HNF1B):c.621A>G (p.Pro207=)
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000458.4(HNF1B):c.703C>A (p.Arg235=) rs193922491
NM_000458.4(HNF1B):c.708C>T (p.Phe236=)
NM_000458.4(HNF1B):c.810-4C>G
NM_000458.4(HNF1B):c.819T>C (p.Cys273=) rs1568664272
NM_000458.4(HNF1B):c.831G>A (p.Gly277=) rs199797518
NM_000458.4(HNF1B):c.936G>A (p.Lys312=)
NM_000458.4(HNF1B):c.999C>T (p.Gly333=)
NM_000458.4(HNF1B):c.9C>G (p.Ser3=)
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly) rs80356617
NM_000525.4(KCNJ11):c.309C>T (p.Ser103=) rs376773562
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=) rs1489389760
NM_000545.8(HNF1A):c.*589C>T rs55962050
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.1275G>A (p.Thr425=)
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.1464C>G (p.Pro488=) rs765827203
NM_000545.8(HNF1A):c.1505T>A (p.Leu502His) rs2135850526
NM_000545.8(HNF1A):c.152G>A (p.Gly51Asp) rs776710848
NM_000545.8(HNF1A):c.1544C>A (p.Thr515Lys) rs745460046
NM_000545.8(HNF1A):c.1548C>T (p.Gly516=) rs886038346
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1602C>T (p.Ala534=)
NM_000545.8(HNF1A):c.1611G>A (p.Thr537=)
NM_000545.8(HNF1A):c.1671G>A (p.Thr557=)
NM_000545.8(HNF1A):c.1719C>T (p.Ala573=)
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
NM_000545.8(HNF1A):c.1728G>A (p.Gln576=)
NM_000545.8(HNF1A):c.1740G>A (p.Pro580=)
NM_000545.8(HNF1A):c.1749G>C (p.Arg583=)
NM_000545.8(HNF1A):c.204G>A (p.Arg68=)
NM_000545.8(HNF1A):c.306C>T (p.Ala102=) rs1486966222
NM_000545.8(HNF1A):c.309G>T (p.Val103=) rs1374173552
NM_000545.8(HNF1A):c.30G>T (p.Thr10=) rs746020457
NM_000545.8(HNF1A):c.348G>A (p.Ala116=)
NM_000545.8(HNF1A):c.408C>G (p.Thr136=)
NM_000545.8(HNF1A):c.492C>G (p.Thr164=)
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=) rs1876675633
NM_000545.8(HNF1A):c.519G>A (p.Val173=) rs534301078
NM_000545.8(HNF1A):c.539C>T (p.Ala180Val) rs1060499866
NM_000545.8(HNF1A):c.639C>A (p.Ile213=) rs768753432
NM_000545.8(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_000545.8(HNF1A):c.680_683delinsTCCTCCACTT (p.Glu227_Glu228delinsValLeuHisLeu) rs1876937295
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln) rs1353807357
NM_000545.8(HNF1A):c.711T>C (p.Asn237=)
NM_000545.8(HNF1A):c.717G>A (p.Ala239=)
NM_000545.8(HNF1A):c.765C>G (p.Gly255=) rs757910486
NM_000545.8(HNF1A):c.801_802insGGG (p.Trp267_Phe268insGly) rs1555212009
NM_000545.8(HNF1A):c.837C>T (p.His279=)
NM_000545.8(HNF1A):c.843G>C (p.Leu281=)
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp) rs539507291
NM_000545.8(HNF1A):c.867C>A (p.Pro289=)
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln) rs193922606
NM_000545.8(HNF1A):c.918C>T (p.Gly306=)
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257
NM_001042413.2(GLIS3):c.*2673dup rs147364042
NM_001042413.2(GLIS3):c.*2840dup rs142133114
NM_001042413.2(GLIS3):c.*2890C>G rs192113877
NM_001042413.2(GLIS3):c.*3189C>T rs548564187
NM_001042413.2(GLIS3):c.*3377del rs202118987
NM_001042413.2(GLIS3):c.*663_*664dup rs5896025
NM_001042413.2(GLIS3):c.1073G>T (p.Cys358Phe)
NM_001042413.2(GLIS3):c.1085C>A (p.Pro362Gln) rs146131512
NM_001042413.2(GLIS3):c.1327C>G (p.Leu443Val) rs529418802
NM_001042413.2(GLIS3):c.2473+13C>T rs368773221
NM_001042413.2(GLIS3):c.2657-17C>T rs746005781
NM_001042413.2(GLIS3):c.844C>G (p.Pro282Ala) rs143051164
NM_001042413.2(GLIS3):c.9A>T (p.Gly3=)
NM_001109809.5(ZFP57):c.352+15G>T
NM_001166108.2(PALLD):c.*112C>T
NM_001166108.2(PALLD):c.*136G>A rs752296365
NM_001166108.2(PALLD):c.*136G>C
NM_001166108.2(PALLD):c.*136G>T
NM_001166108.2(PALLD):c.*172G>A rs1762578631
NM_001166108.2(PALLD):c.*33-14C>G rs2126616657
NM_001166108.2(PALLD):c.*33-16C>T
NM_001166108.2(PALLD):c.*33-8C>T
NM_001166108.2(PALLD):c.*333ATA[3] rs28364802
NM_001166108.2(PALLD):c.*43T>C rs796831946
NM_001166108.2(PALLD):c.1011C>A (p.Asp337Glu) rs763283965
NM_001166108.2(PALLD):c.1965-12513C>T
NM_001166108.2(PALLD):c.1965-12515C>G
NM_001166108.2(PALLD):c.1965-12515C>T
NM_001166108.2(PALLD):c.1965-12533C>A
NM_001166108.2(PALLD):c.1965-12536C>T rs2151120978
NM_001166108.2(PALLD):c.1965-12554G>C
NM_001166108.2(PALLD):c.1965-12563C>T rs2151120642
NM_001166108.2(PALLD):c.1965-12572G>A
NM_001166108.2(PALLD):c.1965-12575G>C rs554297134
NM_001166108.2(PALLD):c.1965-12590G>A
NM_001166108.2(PALLD):c.1965-12599C>T rs900642927
NM_001166108.2(PALLD):c.1965-12602C>T rs1002022068
NM_001166108.2(PALLD):c.1965-12605C>T rs1553965526
NM_001166108.2(PALLD):c.1965-12641C>T rs1553965480
NM_001166108.2(PALLD):c.1965-12656C>T
NM_001166108.2(PALLD):c.1965-12665G>A rs535155432
NM_001166108.2(PALLD):c.1965-12671G>C
NM_001166108.2(PALLD):c.1965-12677G>A
NM_001166108.2(PALLD):c.1965-12683G>A rs864622321
NM_001166108.2(PALLD):c.1965-12692A>C rs864622591
NM_001166108.2(PALLD):c.1965-12704A>G rs863224386
NM_001166108.2(PALLD):c.1965-12707C>T
NM_001166108.2(PALLD):c.1965-12725C>T
NM_001166108.2(PALLD):c.1965-12749G>A rs1209607829
NM_001166108.2(PALLD):c.1965-12761C>A
NM_001166108.2(PALLD):c.1965-12761C>T
NM_001166108.2(PALLD):c.1965-12764G>T
NM_001166108.2(PALLD):c.1965-12773G>C rs1240958245
NM_001166108.2(PALLD):c.1965-12782C>A rs2151117841
NM_001166108.2(PALLD):c.1965-12809C>T
NM_001166108.2(PALLD):c.1965-12812C>T rs532961259
NM_001166108.2(PALLD):c.1965-12821G>A
NM_001166108.2(PALLD):c.1965-12830G>T rs587780758
NM_001166108.2(PALLD):c.1965-12836C>G rs1752038882
NM_001166108.2(PALLD):c.1965-12854G>A
NM_001166108.2(PALLD):c.1965-12856A>C
NM_001166108.2(PALLD):c.1965-12860G>A
NM_001166108.2(PALLD):c.1965-12881C>G
NM_001166108.2(PALLD):c.1965-12911G>T
NM_001166108.2(PALLD):c.1965-12923G>A rs2151116162
NM_001166108.2(PALLD):c.1965-12926G>C
NM_001166108.2(PALLD):c.1965-12935C>A
NM_001166108.2(PALLD):c.1965-12941G>A rs864622590
NM_001166108.2(PALLD):c.1965-12944G>A rs1231114395
NM_001166108.2(PALLD):c.1965-12947C>G rs1279362848
NM_001166108.2(PALLD):c.1965-12947C>T
NM_001166108.2(PALLD):c.1965-12965C>G
NM_001166108.2(PALLD):c.1965-12974C>T rs1314232427
NM_001166108.2(PALLD):c.1965-12986C>T rs1405467936
NM_001166108.2(PALLD):c.1965-13004C>T
NM_001166108.2(PALLD):c.1965-13019G>A
NM_001166108.2(PALLD):c.1965-13021C>T
NM_001166108.2(PALLD):c.1965-13022G>A rs1305250587
NM_001166108.2(PALLD):c.1965-17G>C
NM_001166108.2(PALLD):c.1965-19T>C
NM_001166108.2(PALLD):c.1965-7C>G rs1446406744
NM_001166108.2(PALLD):c.1986T>C (p.Ser662=) rs774706421
NM_001166108.2(PALLD):c.2061A>G (p.Lys687=)
NM_001166108.2(PALLD):c.2085G>T (p.Leu695=) rs2151193953
NM_001166108.2(PALLD):c.2101-11_2101-10del rs2151217010
NM_001166108.2(PALLD):c.2101-11dup
NM_001166108.2(PALLD):c.2101-20T>G
NM_001166108.2(PALLD):c.2101-6G>A
NM_001166108.2(PALLD):c.2101-6_2101-4del rs867266337
NM_001166108.2(PALLD):c.2169T>A (p.Ile723=) rs2151217538
NM_001166108.2(PALLD):c.2199+16G>A
NM_001166108.2(PALLD):c.2199+18A>G
NM_001166108.2(PALLD):c.2251-12T>C
NM_001166108.2(PALLD):c.2274A>G (p.Glu758=)
NM_001166108.2(PALLD):c.2298G>A (p.Glu766=)
NM_001166108.2(PALLD):c.2319T>C (p.Pro773=) rs961514057
NM_001166108.2(PALLD):c.2370T>C (p.Asn790=)
NM_001166108.2(PALLD):c.2442A>C (p.Thr814=)
NM_001166108.2(PALLD):c.2466G>A (p.Lys822=) rs2151264658
NM_001166108.2(PALLD):c.2472+8G>A
NM_001166108.2(PALLD):c.2473-10C>G
NM_001166108.2(PALLD):c.2473-14G>C
NM_001166108.2(PALLD):c.2473-18C>T
NM_001166108.2(PALLD):c.2541C>G (p.Leu847=)
NM_001166108.2(PALLD):c.2541C>T (p.Leu847=) rs863224382
NM_001166108.2(PALLD):c.2550C>G (p.Thr850=) rs772737020
NM_001166108.2(PALLD):c.2586T>C (p.Asp862=) rs1431878477
NM_001166108.2(PALLD):c.2598T>C (p.Tyr866=) rs997146277
NM_001166108.2(PALLD):c.2622+17G>T
NM_001166108.2(PALLD):c.2622+8A>G rs2151306705
NM_001166108.2(PALLD):c.2623-8T>C rs2151407394
NM_001166108.2(PALLD):c.2625C>T (p.Gly875=) rs2151407453
NM_001166108.2(PALLD):c.2644C>A (p.Arg882=)
NM_001166108.2(PALLD):c.2814T>A (p.Thr938=)
NM_001166108.2(PALLD):c.2826A>C (p.Gly942=)
NM_001166108.2(PALLD):c.2850+8T>G rs2151424618
NM_001166108.2(PALLD):c.2851-10T>C rs1761518453
NM_001166108.2(PALLD):c.2851-6A>G rs1347888847
NM_001166108.2(PALLD):c.2853C>T (p.Val951=)
NM_001166108.2(PALLD):c.2874T>C (p.Asp958=) rs2126494210
NM_001166108.2(PALLD):c.2901C>G (p.Pro967=) rs533269596
NM_001166108.2(PALLD):c.2916T>C (p.Ser972=) rs566543059
NM_001166108.2(PALLD):c.2943C>T (p.Asn981=)
NM_001166108.2(PALLD):c.2949G>A (p.Val983=)
NM_001166108.2(PALLD):c.296C>A (p.Ser99Ter)
NM_001166108.2(PALLD):c.2988C>A (p.Ala996=)
NM_001166108.2(PALLD):c.3003T>C (p.Cys1001=)
NM_001166108.2(PALLD):c.3016C>A (p.Arg1006=) rs1304987799
NM_001166108.2(PALLD):c.3045G>A (p.Glu1015=)
NM_001166108.2(PALLD):c.3058+15G>A
NM_001166108.2(PALLD):c.3059-13C>T
NM_001166108.2(PALLD):c.3059-20T>C
NM_001166108.2(PALLD):c.3059-6T>C
NM_001166108.2(PALLD):c.3069A>G (p.Ala1023=) rs2126572022
NM_001166108.2(PALLD):c.3150A>G (p.Val1050=) rs781516286
NM_001166108.2(PALLD):c.3186A>G (p.Lys1062=)
NM_001166108.2(PALLD):c.3222G>C (p.Val1074=)
NM_001166108.2(PALLD):c.3224+16G>A
NM_001166108.2(PALLD):c.3224+18G>A
NM_001166108.2(PALLD):c.3225-16_3225-15del
NM_001166108.2(PALLD):c.3225-18C>G
NM_001166108.2(PALLD):c.3261C>T (p.Leu1087=)
NM_001166108.2(PALLD):c.3288T>C (p.Ala1096=) rs2126589237
NM_001166108.2(PALLD):c.3303G>A (p.Val1101=)
NM_001166108.2(PALLD):c.3306A>C (p.Ser1102=)
NM_001166108.2(PALLD):c.3333C>T (p.Ser1111=)
NM_001166108.2(PALLD):c.3358+17C>T rs1337504036
NM_001166108.2(PALLD):c.353C>G (p.Ser118Ter)
NM_001166108.2(PALLD):c.467C>T (p.Thr156Met)
NM_001366110.1(PAX4):c.*488GC[4] rs61297182
NM_001366110.1(PAX4):c.*493_*494insGCAC rs375106423
NM_001366110.1(PAX4):c.*667AT[1] rs59241875
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu) rs115887120
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys) rs112061448
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2973G>T (p.Lys991Asn) rs1444578140
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.9112C>G (p.Pro3038Ala) rs370622410
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala) rs745518051
NM_001379610.1(SPINK1):c.-42C>T rs181484530
NM_001379610.1(SPINK1):c.105A>G (p.Glu35=)
NM_001379610.1(SPINK1):c.105A>T (p.Glu35Asp)
NM_001379610.1(SPINK1):c.108T>A (p.Leu36=)
NM_001379610.1(SPINK1):c.114A>G (p.Gly38=) rs1561605325
NM_001379610.1(SPINK1):c.117C>T (p.Cys39=)
NM_001379610.1(SPINK1):c.120C>G (p.Thr40=)
NM_001379610.1(SPINK1):c.123G>A (p.Lys41=)
NM_001379610.1(SPINK1):c.132C>T (p.Asp44=)
NM_001379610.1(SPINK1):c.144G>A (p.Gly48=)
NM_001379610.1(SPINK1):c.147T>G (p.Thr49=)
NM_001379610.1(SPINK1):c.150T>C (p.Asp50=)
NM_001379610.1(SPINK1):c.159T>C (p.Thr53=)
NM_001379610.1(SPINK1):c.159T>G (p.Thr53=)
NM_001379610.1(SPINK1):c.162T>C (p.Tyr54=)
NM_001379610.1(SPINK1):c.165C>G (p.Pro55=)
NM_001379610.1(SPINK1):c.165C>T (p.Pro55=)
NM_001379610.1(SPINK1):c.186T>C (p.Phe62=)
NM_001379610.1(SPINK1):c.194+19T>G
NM_001379610.1(SPINK1):c.198A>G (p.Lys66=)
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.216C>T (p.Leu72=)
NM_001379610.1(SPINK1):c.221A>G (p.Gln74Arg)
NM_001379610.1(SPINK1):c.222A>G (p.Gln74=)
NM_001379610.1(SPINK1):c.231G>C (p.Gly77=)
NM_001379610.1(SPINK1):c.231G>T (p.Gly77=)
NM_001379610.1(SPINK1):c.239G>A (p.Ter80=)
NM_001379610.1(SPINK1):c.39C>T (p.Ala13=)
NM_001379610.1(SPINK1):c.42G>A (p.Leu14=)
NM_001379610.1(SPINK1):c.48T>C (p.Ser16=)
NM_001379610.1(SPINK1):c.51A>G (p.Leu17=)
NM_001379610.1(SPINK1):c.54T>G (p.Ser18=)
NM_001379610.1(SPINK1):c.55+11C>A
NM_001379610.1(SPINK1):c.56-19A>G
NM_001379610.1(SPINK1):c.64G>A (p.Gly22Arg) rs1580942670
NM_001379610.1(SPINK1):c.65G>C (p.Gly22Ala)
NM_001379610.1(SPINK1):c.6G>A (p.Lys2=)
NM_001379610.1(SPINK1):c.75C>A (p.Ser25=)
NM_001379610.1(SPINK1):c.75C>G (p.Ser25=)
NM_001379610.1(SPINK1):c.85G>A (p.Glu29Lys)
NM_001379610.1(SPINK1):c.87+10T>C rs955053963
NM_001379610.1(SPINK1):c.87+18A>G
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.99C>T (p.Tyr33=)
NM_001379610.1(SPINK1):c.9A>C (p.Val3=)
NM_001626.6(AKT2):c.1032G>A (p.Met344Ile)
NM_001626.6(AKT2):c.1035C>T (p.Cys345=)
NM_001626.6(AKT2):c.1068G>A (p.Glu356=)
NM_001626.6(AKT2):c.1110G>A (p.Pro370=) rs41309435
NM_001626.6(AKT2):c.1125C>T (p.Pro375=)
NM_001626.6(AKT2):c.1138C>T (p.Leu380=)
NM_001626.6(AKT2):c.1175+13G>A
NM_001626.6(AKT2):c.1176-10C>G rs2145160063
NM_001626.6(AKT2):c.1227C>T (p.Phe409=)
NM_001626.6(AKT2):c.1234A>C (p.Ile412Leu)
NM_001626.6(AKT2):c.1264-4G>A
NM_001626.6(AKT2):c.1264-4G>T rs763704160
NM_001626.6(AKT2):c.1264-5C>T
NM_001626.6(AKT2):c.1311G>A (p.Arg437=)
NM_001626.6(AKT2):c.132C>T (p.Ala44=) rs962740719
NM_001626.6(AKT2):c.1366+19C>T
NM_001626.6(AKT2):c.1428G>A (p.Ser476=)
NM_001626.6(AKT2):c.168C>T (p.Ser56=)
NM_001626.6(AKT2):c.173C>T (p.Ala58Val) rs2145306024
NM_001626.6(AKT2):c.176-9T>C
NM_001626.6(AKT2):c.216C>A (p.Thr72=)
NM_001626.6(AKT2):c.288-14G>T
NM_001626.6(AKT2):c.288-8C>T rs1335755410
NM_001626.6(AKT2):c.318C>G (p.Val106=)
NM_001626.6(AKT2):c.318C>T (p.Val106=) rs769503941
NM_001626.6(AKT2):c.327C>T (p.Ser109=)
NM_001626.6(AKT2):c.387C>T (p.Asp129=)
NM_001626.6(AKT2):c.399T>G (p.Thr133=) rs1599984715
NM_001626.6(AKT2):c.416C>T (p.Ala139Val)
NM_001626.6(AKT2):c.430C>T (p.Arg144Trp)
NM_001626.6(AKT2):c.46+10C>T
NM_001626.6(AKT2):c.46+19C>T
NM_001626.6(AKT2):c.46+20C>T
NM_001626.6(AKT2):c.525C>T (p.Gly175=) rs1209741122
NM_001626.6(AKT2):c.570C>T (p.Ala190=)
NM_001626.6(AKT2):c.574-15G>A
NM_001626.6(AKT2):c.574-16C>T
NM_001626.6(AKT2):c.582C>T (p.Val194=)
NM_001626.6(AKT2):c.597C>T (p.Thr199=)
NM_001626.6(AKT2):c.639+11C>G
NM_001626.6(AKT2):c.640-20C>T
NM_001626.6(AKT2):c.708+10G>A
NM_001626.6(AKT2):c.708+19_708+20insGCGGCTGCCTTGGCT rs1369307021
NM_001626.6(AKT2):c.708+8G>A
NM_001626.6(AKT2):c.709-11T>A
NM_001626.6(AKT2):c.709-9C>T rs2145179062
NM_001626.6(AKT2):c.792G>A (p.Glu264=)
NM_001626.6(AKT2):c.822C>G (p.Arg274=)
NM_001626.6(AKT2):c.822C>T (p.Arg274=) rs758906645
NM_001626.6(AKT2):c.831+10A>G rs2145177700
NM_001626.6(AKT2):c.831+4A>G
NM_001626.6(AKT2):c.832-13A>T
NM_001626.6(AKT2):c.855A>G (p.Lys285=)
NM_001626.6(AKT2):c.960+20G>T
NM_001626.6(AKT2):c.990C>T (p.Ala330=)
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.269+13G>C rs144839649
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.591G>T (p.Ser197=) rs140834602
NM_001715.3(BLK):c.617C>G (p.Ser206Cys) rs550720173
NM_001715.3(BLK):c.668C>T (p.Pro223Leu) rs202028021
NM_001715.3(BLK):c.922A>G (p.Ile308Val)
NM_001807.6(CEL):c.2184_2216del (p.Gly729_Thr739del)
NM_001807.6(CEL):c.2184_2216dup (p.Thr739_Asp740insGlyAspSerGluAlaAlaProValProProThr)
NM_001807.6(CEL):c.466_479del (p.Val156fs) rs572853045
NM_001807.6(CEL):c.73G>A (p.Ala25Thr)
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842
NM_001868.4(CPA1):c.1008T>A (p.Ala336=)
NM_001868.4(CPA1):c.1008T>G (p.Ala336=)
NM_001868.4(CPA1):c.1011G>A (p.Val337=)
NM_001868.4(CPA1):c.1017C>G (p.Ala339=)
NM_001868.4(CPA1):c.102C>T (p.Ala34=)
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.1047C>T (p.Asn349=)
NM_001868.4(CPA1):c.1050T>C (p.Tyr350=)
NM_001868.4(CPA1):c.1074T>C (p.Tyr358=)
NM_001868.4(CPA1):c.1089C>T (p.Ser363=) rs1554412216
NM_001868.4(CPA1):c.1100G>A (p.Trp367Ter)
NM_001868.4(CPA1):c.1109G>A (p.Ser370Asn)
NM_001868.4(CPA1):c.1122G>A (p.Lys374=) rs1584854234
NM_001868.4(CPA1):c.1125C>T (p.Tyr375=)
NM_001868.4(CPA1):c.1131C>T (p.Phe377=)
NM_001868.4(CPA1):c.1134C>A (p.Thr378=)
NM_001868.4(CPA1):c.1134C>G (p.Thr378=)
NM_001868.4(CPA1):c.1134C>T (p.Thr378=)
NM_001868.4(CPA1):c.1143C>G (p.Leu381=)
NM_001868.4(CPA1):c.1149C>T (p.Asp383=)
NM_001868.4(CPA1):c.1152T>A (p.Thr384=)
NM_001868.4(CPA1):c.1152T>C (p.Thr384=)
NM_001868.4(CPA1):c.1152T>G (p.Thr384=)
NM_001868.4(CPA1):c.1158C>A (p.Arg386=)
NM_001868.4(CPA1):c.1158C>T (p.Arg386=)
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.1179C>A (p.Ala393=)
NM_001868.4(CPA1):c.1182C>T (p.Ser394=)
NM_001868.4(CPA1):c.1191C>T (p.Ile397=)
NM_001868.4(CPA1):c.1197A>G (p.Thr399=)
NM_001868.4(CPA1):c.1201A>C (p.Lys401Gln)
NM_001868.4(CPA1):c.1202A>G (p.Lys401Arg)
NM_001868.4(CPA1):c.1209G>T (p.Thr403=)
NM_001868.4(CPA1):c.120G>A (p.Lys40=)
NM_001868.4(CPA1):c.1213C>T (p.Leu405=) rs1584854358
NM_001868.4(CPA1):c.1215G>A (p.Leu405=)
NM_001868.4(CPA1):c.1224G>A (p.Leu408=)
NM_001868.4(CPA1):c.1234G>C (p.Glu412Gln)
NM_001868.4(CPA1):c.1236G>A (p.Glu412=)
NM_001868.4(CPA1):c.123G>A (p.Glu41=)
NM_001868.4(CPA1):c.1242C>T (p.Thr414=)
NM_001868.4(CPA1):c.1245G>C (p.Leu415=)
NM_001868.4(CPA1):c.1251C>T (p.His417=)
NM_001868.4(CPA1):c.1254C>A (p.Pro418=)
NM_001868.4(CPA1):c.1254C>T (p.Pro418=)
NM_001868.4(CPA1):c.126G>A (p.Leu42=)
NM_001868.4(CPA1):c.130G>A (p.Asp44Asn)
NM_001868.4(CPA1):c.142del (p.Leu48fs)
NM_001868.4(CPA1):c.144G>A (p.Leu48=)
NM_001868.4(CPA1):c.144G>C (p.Leu48=)
NM_001868.4(CPA1):c.148C>T (p.Leu50=)
NM_001868.4(CPA1):c.156C>T (p.Phe52=)
NM_001868.4(CPA1):c.160C>A (p.Arg54=) rs782645631
NM_001868.4(CPA1):c.160C>T (p.Arg54Trp)
NM_001868.4(CPA1):c.161G>A (p.Arg54Gln)
NM_001868.4(CPA1):c.165G>A (p.Gly55=) rs1126899
NM_001868.4(CPA1):c.165G>T (p.Gly55=)
NM_001868.4(CPA1):c.171C>T (p.Ala57=)
NM_001868.4(CPA1):c.183C>G (p.Ser61=)
NM_001868.4(CPA1):c.186C>T (p.Pro62=)
NM_001868.4(CPA1):c.196C>A (p.Arg66=)
NM_001868.4(CPA1):c.196C>T (p.Arg66Ter)
NM_001868.4(CPA1):c.19T>C (p.Leu7=)
NM_001868.4(CPA1):c.213C>T (p.Ser71=)
NM_001868.4(CPA1):c.216C>A (p.Ile72=)
NM_001868.4(CPA1):c.222G>A (p.Ala74=)
NM_001868.4(CPA1):c.235C>T (p.Leu79=)
NM_001868.4(CPA1):c.243C>G (p.Ser81=)
NM_001868.4(CPA1):c.243C>T (p.Ser81=)
NM_001868.4(CPA1):c.246C>T (p.His82=)
NM_001868.4(CPA1):c.249C>T (p.Gly83=)
NM_001868.4(CPA1):c.261G>A (p.Glu87=)
NM_001868.4(CPA1):c.263C>T (p.Thr88Ile)
NM_001868.4(CPA1):c.270C>T (p.Ile90=)
NM_001868.4(CPA1):c.276C>T (p.Asp92=) rs782248092
NM_001868.4(CPA1):c.279G>A (p.Val93=)
NM_001868.4(CPA1):c.27C>G (p.Val9=)
NM_001868.4(CPA1):c.282G>A (p.Gln94=)
NM_001868.4(CPA1):c.285G>A (p.Ser95=)
NM_001868.4(CPA1):c.288G>C (p.Leu96=)
NM_001868.4(CPA1):c.291G>A (p.Leu97=) rs2117500459
NM_001868.4(CPA1):c.294C>T (p.Asp98=)
NM_001868.4(CPA1):c.297G>A (p.Glu99=)
NM_001868.4(CPA1):c.2_8delinsGCA (p.Met1fs)
NM_001868.4(CPA1):c.300G>A (p.Glu100=)
NM_001868.4(CPA1):c.306del (p.Glu102fs)
NM_001868.4(CPA1):c.307C>G (p.Gln103Glu)
NM_001868.4(CPA1):c.307C>T (p.Gln103Ter) rs997840503
NM_001868.4(CPA1):c.308A>G (p.Gln103Arg)
NM_001868.4(CPA1):c.309G>A (p.Gln103=)
NM_001868.4(CPA1):c.30G>A (p.Leu10=)
NM_001868.4(CPA1):c.30G>C (p.Leu10=)
NM_001868.4(CPA1):c.318C>G (p.Ala106=)
NM_001868.4(CPA1):c.318C>T (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.327C>T (p.Ser109=)
NM_001868.4(CPA1):c.328C>G (p.Arg110Gly)
NM_001868.4(CPA1):c.334C>T (p.Arg112Cys)
NM_001868.4(CPA1):c.336C>T (p.Arg112=)
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.348T>A (p.Thr116=)
NM_001868.4(CPA1):c.348T>C (p.Thr116=)
NM_001868.4(CPA1):c.357C>T (p.Tyr119=)
NM_001868.4(CPA1):c.369C>T (p.His123=)
NM_001868.4(CPA1):c.373C>T (p.Leu125=)
NM_001868.4(CPA1):c.382-4T>A
NM_001868.4(CPA1):c.387T>C (p.Tyr129=)
NM_001868.4(CPA1):c.389A>C (p.Asp130Ala) rs782428216
NM_001868.4(CPA1):c.405G>A (p.Leu135=)
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.414G>A (p.Glu138=)
NM_001868.4(CPA1):c.420G>A (p.Pro140=)
NM_001868.4(CPA1):c.420G>C (p.Pro140=)
NM_001868.4(CPA1):c.420G>T (p.Pro140=)
NM_001868.4(CPA1):c.423C>G (p.His141Gln)
NM_001868.4(CPA1):c.423C>T (p.His141=)
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.435G>A (p.Lys145=)
NM_001868.4(CPA1):c.447C>T (p.Gly149=)
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.45T>C (p.Phe15=)
NM_001868.4(CPA1):c.462G>T (p.Gly154=)
NM_001868.4(CPA1):c.465T>C (p.Arg155=)
NM_001868.4(CPA1):c.468C>T (p.Pro156=)
NM_001868.4(CPA1):c.471T>C (p.Ile157=)
NM_001868.4(CPA1):c.480G>A (p.Leu160=)
NM_001868.4(CPA1):c.480G>T (p.Leu160=)
NM_001868.4(CPA1):c.489C>T (p.Ser163=)
NM_001868.4(CPA1):c.492G>C (p.Thr164=)
NM_001868.4(CPA1):c.492G>T (p.Thr164=)
NM_001868.4(CPA1):c.495G>A (p.Gly165=)
NM_001868.4(CPA1):c.500G>A (p.Ser167Asn)
NM_001868.4(CPA1):c.504G>T (p.Lys168Asn)
NM_001868.4(CPA1):c.513C>T (p.Ala171=)
NM_001868.4(CPA1):c.51G>A (p.Lys17=)
NM_001868.4(CPA1):c.528G>A (p.Thr176=)
NM_001868.4(CPA1):c.528G>T (p.Thr176=)
NM_001868.4(CPA1):c.530del (p.Gly177fs)
NM_001868.4(CPA1):c.531C>A (p.Gly177=)
NM_001868.4(CPA1):c.537T>C (p.His179=)
NM_001868.4(CPA1):c.540C>T (p.Ser180=)
NM_001868.4(CPA1):c.543G>A (p.Arg181=)
NM_001868.4(CPA1):c.546G>A (p.Glu182=) rs2117503222
NM_001868.4(CPA1):c.552C>T (p.Val184=)
NM_001868.4(CPA1):c.555C>G (p.Thr185=)
NM_001868.4(CPA1):c.555C>T (p.Thr185=)
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.57C>T (p.Asp19=)
NM_001868.4(CPA1):c.591T>C (p.Thr197=)
NM_001868.4(CPA1):c.597C>T (p.Asp199=)
NM_001868.4(CPA1):c.599_600delinsG (p.Tyr200fs) rs1584851947
NM_001868.4(CPA1):c.60T>C (p.Phe20=)
NM_001868.4(CPA1):c.612A>C (p.Ala204=)
NM_001868.4(CPA1):c.615T>G (p.Ala205=)
NM_001868.4(CPA1):c.618C>A (p.Phe206Leu)
NM_001868.4(CPA1):c.625A>G (p.Ile209Val)
NM_001868.4(CPA1):c.627T>C (p.Ile209=)
NM_001868.4(CPA1):c.630C>G (p.Leu210=)
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.63G>C (p.Val21=)
NM_001868.4(CPA1):c.648C>T (p.Phe216=)
NM_001868.4(CPA1):c.649C>T (p.Leu217=)
NM_001868.4(CPA1):c.654G>A (p.Glu218=)
NM_001868.4(CPA1):c.657C>A (p.Ile219=)
NM_001868.4(CPA1):c.657C>T (p.Ile219=) rs1057524778
NM_001868.4(CPA1):c.660C>T (p.Val220=)
NM_001868.4(CPA1):c.681C>T (p.Ala227=)
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>G (p.Asn233Asp)
NM_001868.4(CPA1):c.69T>C (p.His23=)
NM_001868.4(CPA1):c.717T>A (p.Thr239=)
NM_001868.4(CPA1):c.738C>T (p.Ser246=)
NM_001868.4(CPA1):c.741C>A (p.Leu247=)
NM_001868.4(CPA1):c.745A>G (p.Ile249Val)
NM_001868.4(CPA1):c.750C>T (p.Gly250=)
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.762C>T (p.Asn254=) rs1554411739
NM_001868.4(CPA1):c.786G>A (p.Gly262=)
NM_001868.4(CPA1):c.788-4A>C
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.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.807C>T (p.Asn269=)
NM_001868.4(CPA1):c.816G>C (p.Ser272=)
NM_001868.4(CPA1):c.828C>T (p.His276=) rs781912694
NM_001868.4(CPA1):c.834G>A (p.Lys278=) rs201936657
NM_001868.4(CPA1):c.837T>C (p.Phe279=)
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.84C>T (p.Ile28=)
NM_001868.4(CPA1):c.852G>A (p.Val284=)
NM_001868.4(CPA1):c.852G>T (p.Val284=)
NM_001868.4(CPA1):c.864C>T (p.Ser288=)
NM_001868.4(CPA1):c.870A>G (p.Val290=)
NM_001868.4(CPA1):c.882G>A (p.Lys294=)
NM_001868.4(CPA1):c.885C>T (p.Asp295=)
NM_001868.4(CPA1):c.891G>A (p.Gly297=)
NM_001868.4(CPA1):c.8_9dup (p.Leu4fs)
NM_001868.4(CPA1):c.900G>A (p.Lys300=)
NM_001868.4(CPA1):c.903C>G (p.Ala301=)
NM_001868.4(CPA1):c.906C>T (p.Phe302=)
NM_001868.4(CPA1):c.915C>T (p.Ile305=)
NM_001868.4(CPA1):c.918C>T (p.His306=)
NM_001868.4(CPA1):c.930G>A (p.Gln310=)
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.937A>C (p.Met313Leu)
NM_001868.4(CPA1):c.93C>G (p.Ala31=) rs565451182
NM_001868.4(CPA1):c.948T>C (p.Tyr316=)
NM_001868.4(CPA1):c.954_955del (p.Tyr318_Lys319delinsTer)
NM_001868.4(CPA1):c.956A>G (p.Lys319Arg)
NM_001868.4(CPA1):c.95A>G (p.Asp32Gly)
NM_001868.4(CPA1):c.969C>G (p.Val323=)
NM_001868.4(CPA1):c.96T>C (p.Asp32=)
NM_001868.4(CPA1):c.972T>C (p.Pro324=)
NM_001868.4(CPA1):c.985C>T (p.Leu329=)
NM_001868.4(CPA1):c.986del (p.Leu329fs)
NM_001868.4(CPA1):c.988-2A>G
NM_001868.4(CPA1):c.999C>T (p.Ser333=)
NM_001868.4(CPA1):c.99G>A (p.Glu33=)
NM_001868.4(CPA1):c.9G>A (p.Gly3=)
NM_001868.4(CPA1):c.9G>T (p.Gly3=)
NM_002500.5(NEUROD1):c.*1A>G
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=) rs2105595687
NM_002711.4(PPP1R3A):c.416C>G (p.Ser139Cys) rs1057524893
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_002769.5(PRSS1):c.105C>G (p.Val35=)
NM_002769.5(PRSS1):c.108C>T (p.Pro36=)
NM_002769.5(PRSS1):c.111C>T (p.Tyr37=)
NM_002769.5(PRSS1):c.114G>A (p.Gln38=)
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.127T>G (p.Ser43Ala)
NM_002769.5(PRSS1):c.129T>C (p.Ser43=)
NM_002769.5(PRSS1):c.12C>A (p.Leu4=)
NM_002769.5(PRSS1):c.132C>A (p.Gly44=)
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.150C>T (p.Gly50=)
NM_002769.5(PRSS1):c.153C>T (p.Ser51=) rs1554498506
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.177A>C (p.Val59=)
NM_002769.5(PRSS1):c.177A>G (p.Val59=)
NM_002769.5(PRSS1):c.180A>G (p.Ser60=)
NM_002769.5(PRSS1):c.186C>A (p.Gly62=)
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)
NM_002769.5(PRSS1):c.192C>T (p.Cys64=)
NM_002769.5(PRSS1):c.195C>T (p.Tyr65=) rs2116960834
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+20C>T rs1585979340
NM_002769.5(PRSS1):c.200+7G>A rs374455072
NM_002769.5(PRSS1):c.201-12C>T
NM_002769.5(PRSS1):c.201-16C>G
NM_002769.5(PRSS1):c.201-8C>T rs1397404221
NM_002769.5(PRSS1):c.201C>A (p.Ser67=)
NM_002769.5(PRSS1):c.204C>T (p.Arg68=)
NM_002769.5(PRSS1):c.217C>T (p.Leu73=)
NM_002769.5(PRSS1):c.222A>C (p.Gly74=)
NM_002769.5(PRSS1):c.225G>A (p.Glu75=)
NM_002769.5(PRSS1):c.22A>G (p.Thr8Ala)
NM_002769.5(PRSS1):c.231C>T (p.Asn77=)
NM_002769.5(PRSS1):c.246G>A (p.Glu82=)
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.261C>T (p.Phe87=)
NM_002769.5(PRSS1):c.267T>C (p.Asn89=) rs779618969
NM_002769.5(PRSS1):c.270A>G (p.Ala90=) rs371037592
NM_002769.5(PRSS1):c.27T>C (p.Phe9=)
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>A (p.Pro97=)
NM_002769.5(PRSS1):c.291C>T (p.Pro97=)
NM_002769.5(PRSS1):c.294A>G (p.Gln98=)
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)
NM_002769.5(PRSS1):c.300C>T (p.Asp100=) rs753600288
NM_002769.5(PRSS1):c.303G>A (p.Arg101=)
NM_002769.5(PRSS1):c.30G>T (p.Val10=)
NM_002769.5(PRSS1):c.312G>C (p.Leu104=)
NM_002769.5(PRSS1):c.315C>T (p.Asn105=)
NM_002769.5(PRSS1):c.321C>T (p.Asp107=)
NM_002769.5(PRSS1):c.328T>C (p.Leu110=)
NM_002769.5(PRSS1):c.32C>G (p.Ala11Gly)
NM_002769.5(PRSS1):c.330A>G (p.Leu110=)
NM_002769.5(PRSS1):c.339C>T (p.Leu113=)
NM_002769.5(PRSS1):c.345A>G (p.Ser115=)
NM_002769.5(PRSS1):c.348T>G (p.Arg116=)
NM_002769.5(PRSS1):c.351A>C (p.Ala117=) rs606231346
NM_002769.5(PRSS1):c.354A>C (p.Val118=) rs606231347
NM_002769.5(PRSS1):c.357C>A (p.Ile119=)
NM_002769.5(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.5(PRSS1):c.363C>T (p.Ala121=)
NM_002769.5(PRSS1):c.366C>A (p.Arg122=)
NM_002769.5(PRSS1):c.366C>G (p.Arg122=)
NM_002769.5(PRSS1):c.372C>G (p.Ser124=)
NM_002769.5(PRSS1):c.372C>T (p.Ser124=)
NM_002769.5(PRSS1):c.378C>A (p.Ile126=)
NM_002769.5(PRSS1):c.378C>T (p.Ile126=)
NM_002769.5(PRSS1):c.381T>A (p.Ser127=)
NM_002769.5(PRSS1):c.387C>T (p.Pro129=)
NM_002769.5(PRSS1):c.390C>A (p.Thr130=)
NM_002769.5(PRSS1):c.390C>G (p.Thr130=)
NM_002769.5(PRSS1):c.391G>T (p.Ala131Ser)
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+40del rs748794481
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.408C>A (p.Gly136=) rs1585986936
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_002769.5(PRSS1):c.41-14C>A
NM_002769.5(PRSS1):c.41-14C>T rs757743939
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.414G>A (p.Lys138=) rs749482440
NM_002769.5(PRSS1):c.420C>T (p.Leu140=)
NM_002769.5(PRSS1):c.426T>C (p.Ser142=)
NM_002769.5(PRSS1):c.438C>T (p.Asn146=)
NM_002769.5(PRSS1):c.441T>G (p.Thr147=)
NM_002769.5(PRSS1):c.444G>A (p.Ala148=) rs11553844
NM_002769.5(PRSS1):c.447C>T (p.Ser149=) rs372698855
NM_002769.5(PRSS1):c.453C>A (p.Gly151=)
NM_002769.5(PRSS1):c.454+157C>G rs371236770
NM_002769.5(PRSS1):c.454+16A>G
NM_002769.5(PRSS1):c.454+36T>C
NM_002769.5(PRSS1):c.454+75A>G rs1376416883
NM_002769.5(PRSS1):c.459C>T (p.Asp153=)
NM_002769.5(PRSS1):c.45T>A (p.Ala15=)
NM_002769.5(PRSS1):c.465A>T (p.Pro155=)
NM_002769.5(PRSS1):c.468C>A (p.Asp156Glu)
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)
NM_002769.5(PRSS1):c.468C>T (p.Asp156=) rs146076691
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.477G>A (p.Gln159=)
NM_002769.5(PRSS1):c.480C>T (p.Cys160=)
NM_002769.5(PRSS1):c.483G>A (p.Leu161=)
NM_002769.5(PRSS1):c.48C>A (p.Ala16=)
NM_002769.5(PRSS1):c.48C>T (p.Ala16=) rs1585978487
NM_002769.5(PRSS1):c.492T>A (p.Pro164=)
NM_002769.5(PRSS1):c.496C>T (p.Leu166=)
NM_002769.5(PRSS1):c.498G>A (p.Leu166=)
NM_002769.5(PRSS1):c.498G>C (p.Leu166=)
NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser) rs770782578
NM_002769.5(PRSS1):c.504G>A (p.Gln168=)
NM_002769.5(PRSS1):c.510G>A (p.Lys170=) rs750427023
NM_002769.5(PRSS1):c.519C>T (p.Ala173=)
NM_002769.5(PRSS1):c.51C>A (p.Pro17=)
NM_002769.5(PRSS1):c.522C>T (p.Ser174=)
NM_002769.5(PRSS1):c.525C>T (p.Tyr175=)
NM_002769.5(PRSS1):c.528T>C (p.Pro176=)
NM_002769.5(PRSS1):c.531A>G (p.Gly177=)
NM_002769.5(PRSS1):c.534G>A (p.Lys178=) rs267601347
NM_002769.5(PRSS1):c.540C>A (p.Thr180=)
NM_002769.5(PRSS1):c.540C>T (p.Thr180=) rs769319141
NM_002769.5(PRSS1):c.552C>T (p.Phe184=) rs767583768
NM_002769.5(PRSS1):c.557T>C (p.Val186Ala)
NM_002769.5(PRSS1):c.579G>A (p.Lys193=) rs1457186819
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.592-4C>T
NM_002769.5(PRSS1):c.592-7C>T rs1443925968
NM_002769.5(PRSS1):c.592-8C>A rs200381474
NM_002769.5(PRSS1):c.597T>C (p.Asp199=)
NM_002769.5(PRSS1):c.5A>G (p.Asn2Ser)
NM_002769.5(PRSS1):c.609T>A (p.Pro203=)
NM_002769.5(PRSS1):c.609T>C (p.Pro203=)
NM_002769.5(PRSS1):c.60T>C (p.Asp20=) rs1585978558
NM_002769.5(PRSS1):c.612G>A (p.Val204=)
NM_002769.5(PRSS1):c.627G>A (p.Gln209=)
NM_002769.5(PRSS1):c.630C>T (p.Leu210=)
NM_002769.5(PRSS1):c.633A>G (p.Gln211=)
NM_002769.5(PRSS1):c.636A>T (p.Gly212=)
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>T (p.Asp218Tyr) rs574391339
NM_002769.5(PRSS1):c.654T>C (p.Asp218=)
NM_002769.5(PRSS1):c.657C>A (p.Gly219=)
NM_002769.5(PRSS1):c.657C>G (p.Gly219=)
NM_002769.5(PRSS1):c.657C>T (p.Gly219=)
NM_002769.5(PRSS1):c.663C>T (p.Ala221=)
NM_002769.5(PRSS1):c.666G>A (p.Gln222=)
NM_002769.5(PRSS1):c.669G>A (p.Lys223=)
NM_002769.5(PRSS1):c.672C>T (p.Asn224=)
NM_002769.5(PRSS1):c.681A>C (p.Gly227=) rs780015944
NM_002769.5(PRSS1):c.687C>T (p.Tyr229=)
NM_002769.5(PRSS1):c.693G>A (p.Lys231=)
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.705T>C (p.Tyr235=)
NM_002769.5(PRSS1):c.708G>A (p.Val236=)
NM_002769.5(PRSS1):c.711A>G (p.Lys237=)
NM_002769.5(PRSS1):c.717T>C (p.Ile239=)
NM_002769.5(PRSS1):c.723C>T (p.Asn241=)
NM_002769.5(PRSS1):c.726C>G (p.Thr242=)
NM_002769.5(PRSS1):c.726C>T (p.Thr242=)
NM_002769.5(PRSS1):c.72C>A (p.Ile24=)
NM_002769.5(PRSS1):c.735C>T (p.Ala245=)
NM_002769.5(PRSS1):c.743A>G (p.Ter248=) rs1798883437
NM_002769.5(PRSS1):c.75T>G (p.Val25=)
NM_002769.5(PRSS1):c.78G>A (p.Gly26=)
NM_002769.5(PRSS1):c.84C>T (p.Tyr28=)
NM_002769.5(PRSS1):c.87C>T (p.Asn29=) rs747010881
NM_002769.5(PRSS1):c.9A>G (p.Pro3=) rs2116945188
NM_003051.3(SLC16A1):c.-249C>G rs60953496
NM_003051.4(SLC16A1):c.362-58TATT[8] rs149491709
NM_003355.3(UCP2):c.685A>G (p.Thr229Ala) rs2135363060
NM_003597.5(KLF11):c.*122C>T rs576978858
NM_003597.5(KLF11):c.*227dup rs34206941
NM_003597.5(KLF11):c.1050G>A (p.Pro350=) rs145193520
NM_003597.5(KLF11):c.42+18C>G rs1476684022
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
NM_005271.5(GLUD1):c.108G>A (p.Gln36=)
NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)
NM_005271.5(GLUD1):c.1197+20C>G
NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)
NM_005271.5(GLUD1):c.1212T>C (p.Gly404=)
NM_005271.5(GLUD1):c.1279-19G>T
NM_005271.5(GLUD1):c.1329G>A (p.Leu443=)
NM_005271.5(GLUD1):c.133C>T (p.Leu45=) rs2133875409
NM_005271.5(GLUD1):c.1344T>C (p.His448=) rs1845866673
NM_005271.5(GLUD1):c.1350C>T (p.Ser450=)
NM_005271.5(GLUD1):c.1452T>C (p.Thr484=)
NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr) rs2133788934
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
NM_005271.5(GLUD1):c.1495-14C>A rs2133777461
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
NM_005271.5(GLUD1):c.1647G>C (p.Val549=)
NM_005271.5(GLUD1):c.174C>A (p.Ala58=)
NM_005271.5(GLUD1):c.264C>T (p.Asp88=)
NM_005271.5(GLUD1):c.273C>T (p.Thr91=)
NM_005271.5(GLUD1):c.297G>C (p.Arg99=)
NM_005271.5(GLUD1):c.406C>A (p.Arg136=) rs1405119017
NM_005271.5(GLUD1):c.429C>G (p.Arg143=)
NM_005271.5(GLUD1):c.446-9C>T rs1846404467
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro) rs777627931
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=) rs1846403678
NM_005271.5(GLUD1):c.526+10C>T
NM_005271.5(GLUD1):c.534G>T (p.Pro178=) rs764675203
NM_005271.5(GLUD1):c.582+7A>G
NM_005271.5(GLUD1):c.583-23_583-17dup
NM_005271.5(GLUD1):c.647-14C>T
NM_005271.5(GLUD1):c.72C>T (p.Ala24=)
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His) rs2133811373
NM_005271.5(GLUD1):c.742-8del
NM_005271.5(GLUD1):c.756C>T (p.His252=)
NM_005271.5(GLUD1):c.771T>G (p.Gly257=) rs144831842
NM_005271.5(GLUD1):c.78G>A (p.Ser26=)
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)
NM_005327.7(HADH):c.*660_*661del
NM_005327.7(HADH):c.117C>G (p.Gly39=)
NM_005327.7(HADH):c.120C>T (p.Ala40=)
NM_005327.7(HADH):c.123C>T (p.Gly41=)
NM_005327.7(HADH):c.126T>C (p.Ile42=)
NM_005327.7(HADH):c.132+11C>T
NM_005327.7(HADH):c.132+15C>A
NM_005327.7(HADH):c.132+16T>A
NM_005327.7(HADH):c.132+19A>G
NM_005327.7(HADH):c.133-19T>C
NM_005327.7(HADH):c.133-20T>G
NM_005327.7(HADH):c.141A>G (p.Ala47=)
NM_005327.7(HADH):c.144A>T (p.Ala48=) rs79881095
NM_005327.7(HADH):c.153C>T (p.His51=)
NM_005327.7(HADH):c.156A>G (p.Thr52=)
NM_005327.7(HADH):c.162G>A (p.Val54=)
NM_005327.7(HADH):c.163T>C (p.Leu55=)
NM_005327.7(HADH):c.180G>A (p.Glu60=)
NM_005327.7(HADH):c.18G>A (p.Arg6=)
NM_005327.7(HADH):c.237G>A (p.Lys79=) rs150930917
NM_005327.7(HADH):c.246T>C (p.Phe82=)
NM_005327.7(HADH):c.249A>G (p.Ala83=)
NM_005327.7(HADH):c.261+10T>C
NM_005327.7(HADH):c.261+12T>C
NM_005327.7(HADH):c.261+12_261+19dup
NM_005327.7(HADH):c.261+15T>A
NM_005327.7(HADH):c.261+16C>A
NM_005327.7(HADH):c.261+16C>G
NM_005327.7(HADH):c.261+18A>T
NM_005327.7(HADH):c.261+19T>A
NM_005327.7(HADH):c.261+20G>A
NM_005327.7(HADH):c.261+7T>A
NM_005327.7(HADH):c.261+8C>G
NM_005327.7(HADH):c.261+8C>T
NM_005327.7(HADH):c.262-19C>T rs2126229206
NM_005327.7(HADH):c.262-5A>C
NM_005327.7(HADH):c.262-5A>G
NM_005327.7(HADH):c.262-6C>T
NM_005327.7(HADH):c.262-8T>C
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.267C>T (p.Gly89=)
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005327.7(HADH):c.306C>G (p.Thr102=)
NM_005327.7(HADH):c.312G>A (p.Thr104=)
NM_005327.7(HADH):c.315T>C (p.Asp105=)
NM_005327.7(HADH):c.327T>C (p.Val109=)
NM_005327.7(HADH):c.336C>T (p.Ser112=)
NM_005327.7(HADH):c.351G>A (p.Val117=)
NM_005327.7(HADH):c.360C>T (p.Ile120=)
NM_005327.7(HADH):c.366G>A (p.Glu122=)
NM_005327.7(HADH):c.381A>G (p.Lys127=)
NM_005327.7(HADH):c.390C>T (p.Leu130=)
NM_005327.7(HADH):c.39C>T (p.Ser13=)
NM_005327.7(HADH):c.419+12C>G
NM_005327.7(HADH):c.419+14G>A
NM_005327.7(HADH):c.419+16A>T
NM_005327.7(HADH):c.419+18A>G
NM_005327.7(HADH):c.419+19A>G
NM_005327.7(HADH):c.420-10C>T
NM_005327.7(HADH):c.420-17A>G
NM_005327.7(HADH):c.420-19C>T
NM_005327.7(HADH):c.420-4A>G
NM_005327.7(HADH):c.426A>G (p.Thr142=)
NM_005327.7(HADH):c.447C>T (p.Ser149=)
NM_005327.7(HADH):c.450C>T (p.Ser150=)
NM_005327.7(HADH):c.489A>G (p.Gln163=)
NM_005327.7(HADH):c.48C>T (p.Ser16=)
NM_005327.7(HADH):c.498C>T (p.Phe166=)
NM_005327.7(HADH):c.525G>A (p.Val175=)
NM_005327.7(HADH):c.540T>C (p.Leu180=)
NM_005327.7(HADH):c.546+13C>T
NM_005327.7(HADH):c.546+15G>T
NM_005327.7(HADH):c.546+18dup rs2126232168
NM_005327.7(HADH):c.546+9G>A
NM_005327.7(HADH):c.547-10G>T
NM_005327.7(HADH):c.547-11T>C
NM_005327.7(HADH):c.547-19C>A
NM_005327.7(HADH):c.547-19C>T
NM_005327.7(HADH):c.54C>A (p.Ala18=)
NM_005327.7(HADH):c.567C>T (p.Thr189=)
NM_005327.7(HADH):c.588T>G (p.Ser196=)
NM_005327.7(HADH):c.594A>G (p.Val198=)
NM_005327.7(HADH):c.600T>C (p.Phe200=)
NM_005327.7(HADH):c.612A>G (p.Leu204=)
NM_005327.7(HADH):c.615A>G (p.Gly205=)
NM_005327.7(HADH):c.636+16G>A
NM_005327.7(HADH):c.636+16G>T
NM_005327.7(HADH):c.636+18T>C
NM_005327.7(HADH):c.636+20G>A
NM_005327.7(HADH):c.636+7G>C
NM_005327.7(HADH):c.637-10C>T
NM_005327.7(HADH):c.637-18T>C
NM_005327.7(HADH):c.637-20T>C
NM_005327.7(HADH):c.637-7A>C
NM_005327.7(HADH):c.639C>T (p.Asp213=)
NM_005327.7(HADH):c.642T>C (p.Thr214=)
NM_005327.7(HADH):c.651T>C (p.Phe217=)
NM_005327.7(HADH):c.663C>T (p.Arg221=)
NM_005327.7(HADH):c.709+17G>A
NM_005327.7(HADH):c.709+8T>A rs2126237037
NM_005327.7(HADH):c.710-11T>A
NM_005327.7(HADH):c.710-11T>G
NM_005327.7(HADH):c.710-13G>A
NM_005327.7(HADH):c.710-14_710-11dup
NM_005327.7(HADH):c.710-15C>T
NM_005327.7(HADH):c.710-18C>T
NM_005327.7(HADH):c.710-19G>A
NM_005327.7(HADH):c.756C>G (p.Ala252=)
NM_005327.7(HADH):c.756C>T (p.Ala252=)
NM_005327.7(HADH):c.765C>G (p.Pro255=)
NM_005327.7(HADH):c.771C>T (p.Gly257=)
NM_005327.7(HADH):c.774A>G (p.Pro258=)
NM_005327.7(HADH):c.807T>C (p.Thr269=)
NM_005327.7(HADH):c.810G>A (p.Thr270=)
NM_005327.7(HADH):c.819C>T (p.Ile273=)
NM_005327.7(HADH):c.826+13del
NM_005327.7(HADH):c.826+20G>A
NM_005327.7(HADH):c.826+8T>C
NM_005327.7(HADH):c.827-18C>T
NM_005327.7(HADH):c.827-20C>G
NM_005327.7(HADH):c.827-20C>T
NM_005327.7(HADH):c.827-4A>C rs1381056065
NM_005327.7(HADH):c.828G>A (p.Gly276=)
NM_005327.7(HADH):c.846A>G (p.Ala282=)
NM_005327.7(HADH):c.873A>G (p.Pro291=)
NM_005327.7(HADH):c.87C>T (p.His29=)
NM_005327.7(HADH):c.897G>A (p.Glu299=)
NM_005327.7(HADH):c.906C>T (p.Phe302=)
NM_005327.7(HADH):c.909C>T (p.Gly303=)
NM_005327.7(HADH):c.918T>C (p.Thr306=)
NM_005327.7(HADH):c.921A>T (p.Gly307=)
NM_005327.7(HADH):c.93G>A (p.Thr31=)
NM_005327.7(HADH):c.99C>T (p.Ile33=) rs74428123
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=) rs1060504023
NM_005544.3(IRS1):c.2039GCA[6] (p.Ser686del) rs138975702
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.1233T>G (p.Ser411=) rs760897070
NM_006005.3(WFS1):c.1476T>C (p.Pro492=) rs1730893286
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1806G>A (p.Ala602=) rs142295878
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2565A>T (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.316-14T>C rs749922151
NM_006005.3(WFS1):c.510C>T (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.713-19G>A rs776845938
NM_006005.3(WFS1):c.862-18G>A rs763167503
NM_006005.3(WFS1):c.876C>G (p.Pro292=) rs1159812254
NM_006208.3(ENPP1):c.118C>A (p.Pro40Thr)
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT rs879243445
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) rs563539429
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.103G>A (p.Asp35Asn)
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.12C>T (p.Ile4=)
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.133-18C>T
NM_007272.3(CTRC):c.138C>T (p.Ser46=)
NM_007272.3(CTRC):c.144G>A (p.Gln48=)
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.157G>A (p.Asp53Asn)
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.168G>A (p.Arg56=)
NM_007272.3(CTRC):c.174G>T (p.Thr58=)
NM_007272.3(CTRC):c.177T>C (p.Cys59=)
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.192T>A (p.Ile64=)
NM_007272.3(CTRC):c.192T>C (p.Ile64=)
NM_007272.3(CTRC):c.198C>T (p.Ser66=)
NM_007272.3(CTRC):c.204C>T (p.Phe68=)
NM_007272.3(CTRC):c.213T>A (p.Thr71=)
NM_007272.3(CTRC):c.213T>C (p.Thr71=)
NM_007272.3(CTRC):c.216C>A (p.Ala72=)
NM_007272.3(CTRC):c.21C>A (p.Leu7=)
NM_007272.3(CTRC):c.21C>T (p.Leu7=) rs1279354220
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.231-4C>A
NM_007272.3(CTRC):c.237C>G (p.Thr79=)
NM_007272.3(CTRC):c.249T>C (p.Arg83=) rs1570783555
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.270C>T (p.Asn90=)
NM_007272.3(CTRC):c.273G>A (p.Leu91=)
NM_007272.3(CTRC):c.277G>C (p.Val93Leu)
NM_007272.3(CTRC):c.279G>A (p.Val93=)
NM_007272.3(CTRC):c.27G>C (p.Ala9=)
NM_007272.3(CTRC):c.288A>G (p.Glu96=)
NM_007272.3(CTRC):c.291A>G (p.Glu97=)
NM_007272.3(CTRC):c.297C>T (p.Ser99=)
NM_007272.3(CTRC):c.298C>T (p.Leu100=)
NM_007272.3(CTRC):c.30C>G (p.Leu10=)
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>T (p.His108=)
NM_007272.3(CTRC):c.331A>G (p.Lys111Glu)
NM_007272.3(CTRC):c.335G>A (p.Arg112Lys)
NM_007272.3(CTRC):c.33G>A (p.Leu11=)
NM_007272.3(CTRC):c.345C>T (p.Ala115=)
NM_007272.3(CTRC):c.348C>T (p.Leu116=)
NM_007272.3(CTRC):c.351G>A (p.Leu117=)
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.363T>C (p.Asp121=)
NM_007272.3(CTRC):c.366T>C (p.Ile122=)
NM_007272.3(CTRC):c.369C>G (p.Ala123=)
NM_007272.3(CTRC):c.387G>A (p.Glu129=)
NM_007272.3(CTRC):c.38G>A (p.Cys13Tyr)
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+20T>G
NM_007272.3(CTRC):c.408C>G (p.Thr136=)
NM_007272.3(CTRC):c.41-11T>C
NM_007272.3(CTRC):c.41-19T>C
NM_007272.3(CTRC):c.41-3dup
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.42C>G (p.Ala14=)
NM_007272.3(CTRC):c.438C>T (p.Asp146=)
NM_007272.3(CTRC):c.442C>T (p.Leu148=)
NM_007272.3(CTRC):c.447C>T (p.Leu149=)
NM_007272.3(CTRC):c.450C>T (p.Pro150=)
NM_007272.3(CTRC):c.459C>T (p.Tyr153=)
NM_007272.3(CTRC):c.45C>T (p.Ser15=)
NM_007272.3(CTRC):c.462C>A (p.Pro154=)
NM_007272.3(CTRC):c.465C>T (p.Cys155=)
NM_007272.3(CTRC):c.471C>G (p.Val157=)
NM_007272.3(CTRC):c.477C>T (p.Gly159=)
NM_007272.3(CTRC):c.483C>T (p.Gly161=)
NM_007272.3(CTRC):c.48C>T (p.Ser16=)
NM_007272.3(CTRC):c.493+16G>A
NM_007272.3(CTRC):c.494-10C>T
NM_007272.3(CTRC):c.494-19C>G
NM_007272.3(CTRC):c.498C>T (p.Asn166=)
NM_007272.3(CTRC):c.501C>A (p.Gly167=)
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.519G>T (p.Leu173=)
NM_007272.3(CTRC):c.525G>A (p.Gln175=)
NM_007272.3(CTRC):c.528C>T (p.Gly176=)
NM_007272.3(CTRC):c.531G>C (p.Leu177=)
NM_007272.3(CTRC):c.531G>T (p.Leu177=)
NM_007272.3(CTRC):c.537C>G (p.Pro179=)
NM_007272.3(CTRC):c.537C>T (p.Pro179=)
NM_007272.3(CTRC):c.540G>C (p.Val180=)
NM_007272.3(CTRC):c.546T>C (p.Asp182=)
NM_007272.3(CTRC):c.54G>A (p.Gly18=)
NM_007272.3(CTRC):c.552C>G (p.Ala184=) rs888159659
NM_007272.3(CTRC):c.552C>T (p.Ala184=)
NM_007272.3(CTRC):c.555G>T (p.Thr185=)
NM_007272.3(CTRC):c.562A>C (p.Arg188=)
NM_007272.3(CTRC):c.582C>T (p.Phe194=)
NM_007272.3(CTRC):c.585G>A (p.Arg195=)
NM_007272.3(CTRC):c.594A>G (p.Lys198=)
NM_007272.3(CTRC):c.609T>G (p.Ala203=)
NM_007272.3(CTRC):c.615C>T (p.Gly205=) rs756236720
NM_007272.3(CTRC):c.618T>C (p.Asp206=)
NM_007272.3(CTRC):c.621C>T (p.Gly207=)
NM_007272.3(CTRC):c.633C>T (p.Ala211=)
NM_007272.3(CTRC):c.636C>T (p.Cys212=)
NM_007272.3(CTRC):c.639+13G>A
NM_007272.3(CTRC):c.63C>T (p.Ser21=)
NM_007272.3(CTRC):c.640-11G>T
NM_007272.3(CTRC):c.640-40G>C rs191025876
NM_007272.3(CTRC):c.640-40G>T rs191025876
NM_007272.3(CTRC):c.640-41G>T rs186735838
NM_007272.3(CTRC):c.640-42G>C rs199897030
NM_007272.3(CTRC):c.640-6G>A
NM_007272.3(CTRC):c.642G>A (p.Gly214=) rs1265655451
NM_007272.3(CTRC):c.654C>T (p.Gly218=)
NM_007272.3(CTRC):c.660G>A (p.Leu220=)
NM_007272.3(CTRC):c.660G>C (p.Leu220=)
NM_007272.3(CTRC):c.666C>T (p.Cys222=)
NM_007272.3(CTRC):c.669G>A (p.Gln223=)
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.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.699C>T (p.Gly233=)
NM_007272.3(CTRC):c.69G>T (p.Pro23=)
NM_007272.3(CTRC):c.6G>A (p.Leu2=)
NM_007272.3(CTRC):c.702C>A (p.Ile234=)
NM_007272.3(CTRC):c.702C>T (p.Ile234=)
NM_007272.3(CTRC):c.705C>T (p.Val235=)
NM_007272.3(CTRC):c.714C>G (p.Gly238=)
NM_007272.3(CTRC):c.717C>T (p.Ser239=)
NM_007272.3(CTRC):c.718C>A (p.Arg240=)
NM_007272.3(CTRC):c.721C>A (p.Arg241=)
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
NM_007272.3(CTRC):c.722G>T (p.Arg241Leu)
NM_007272.3(CTRC):c.72C>T (p.Pro24=)
NM_007272.3(CTRC):c.735C>T (p.Thr245=)
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.738C>A (p.Arg246=)
NM_007272.3(CTRC):c.741G>A (p.Lys247=)
NM_007272.3(CTRC):c.744G>A (p.Lys248=)
NM_007272.3(CTRC):c.747G>T (p.Pro249=) rs150078209
NM_007272.3(CTRC):c.750A>G (p.Val250=)
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.756C>T (p.Tyr252=)
NM_007272.3(CTRC):c.762G>A (p.Arg254=)
NM_007272.3(CTRC):c.762G>C (p.Arg254=)
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.788A>G (p.Asn263Ser) rs769975164
NM_007272.3(CTRC):c.78A>G (p.Leu26=)
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.801G>A (p.Gln267=)
NM_007272.3(CTRC):c.804G>C (p.Leu268=)
NM_007272.3(CTRC):c.85C>A (p.Arg29=)
NM_007272.3(CTRC):c.90G>A (p.Val30=)
NM_007272.3(CTRC):c.93G>A (p.Val31=)
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=) rs786201258
NM_007294.4(BRCA1):c.4185+11TG[5] rs273900723
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_012096.3(APPL1):c.200A>G (p.Glu67Gly) rs141978531
NM_012096.3(APPL1):c.374-9C>T
NM_024675.4(PALB2):c.108+7_108+8delinsAT rs2142459585
NM_024675.4(PALB2):c.1482T>C (p.Thr494=) rs2142414557
NM_024675.4(PALB2):c.168T>C (p.Asp56=) rs1203135643
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2424A>C (p.Gly808=) rs1060504714
NM_024675.4(PALB2):c.2834+13C>G rs551516577
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=) rs786203475
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_173560.4(RFX6):c.143C>T (p.Ala48Val) rs200522460
NM_173560.4(RFX6):c.1930C>T (p.Pro644Ser) rs762488509
NM_173560.4(RFX6):c.1955G>A (p.Arg652Gln) rs867520268
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_175914.5(HNF4A):c.*217C>T rs1019701119
NM_175914.5(HNF4A):c.*2256C>G rs537829031
NM_175914.5(HNF4A):c.*226C>A rs886056680
NM_175914.5(HNF4A):c.*3104A>C rs886056703
NM_175914.5(HNF4A):c.*3142del rs141563916
NM_175914.5(HNF4A):c.*35C>A rs1019496764
NM_175914.5(HNF4A):c.*657G>A rs3212209
NM_175914.5(HNF4A):c.*76G>T rs11574743
NM_175914.5(HNF4A):c.111G>T (p.Leu37=) rs2063496608
NM_175914.5(HNF4A):c.114T>C (p.Cys38=)
NM_175914.5(HNF4A):c.1293C>T (p.Val431=)
NM_175914.5(HNF4A):c.1305C>G (p.Val435=)
NM_175914.5(HNF4A):c.195C>T (p.Ser65=) rs1008906897
NM_175914.5(HNF4A):c.282G>A (p.Arg94=) rs1463516865
NM_175914.5(HNF4A):c.300G>T (p.Arg100=)
NM_175914.5(HNF4A):c.595A>C (p.Arg199=)
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566
NM_175914.5(HNF4A):c.990C>T (p.Ile330=)
NM_178161.3(PTF1A):c.*157GAT[1] rs149560393

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