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_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_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_000289.5(PFKM):c.-171C>A
|
rs41291959
|
0.06201
|
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_001366110.1(PAX4):c.474C>T (p.Gly158=)
|
rs77039439
|
0.04703
|
NM_175914.5(HNF4A):c.*305A>G
|
rs56343153
|
0.04078
|
NM_175914.5(HNF4A):c.*242T>C
|
rs41282030
|
0.04068
|
NM_175914.5(HNF4A):c.50-4538G>A
|
rs113725562
|
0.03716
|
NC_000012.12:g.6867521G>A
|
rs1800201
|
0.03488
|
NM_001366110.1(PAX4):c.*492G>A
|
rs405576
|
0.03297
|
NM_000458.4(HNF1B):c.*777G>A
|
rs17138512
|
0.02929
|
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)
|
rs1801261
|
0.02724
|
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_175914.5(HNF4A):c.350C>T (p.Thr117Ile)
|
rs1800961
|
0.02469
|
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)
|
rs1800574
|
0.02065
|
NM_000289.6(PFKM):c.237+73G>T
|
rs78042191
|
0.01997
|
NM_000458.4(HNF1B):c.1340-97G>A
|
rs77297671
|
0.01990
|
NM_053013.4(ENO3):c.-88G>A
|
rs73343373
|
0.01987
|
NM_053013.4(ENO3):c.993C>T (p.Ala331=)
|
rs2230257
|
0.01604
|
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_000175.5(GPI):c.623T>C (p.Ile208Thr)
|
rs8191371
|
0.01437
|
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_000360.4(TH):c.1278G>A (p.Thr426=)
|
rs36097848
|
0.01234
|
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_001366110.1(PAX4):c.*33A>C
|
rs150578361
|
0.01119
|
NM_005566.4(LDHA):c.*582C>T
|
rs144317385
|
0.01099
|
NM_175914.5(HNF4A):c.*167T>A
|
rs11574744
|
0.01097
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)
|
rs77290575
|
0.01088
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
NM_001715.2(BLK):c.-448T>C
|
rs148891021
|
0.00986
|
NM_001715.3(BLK):c.177C>G (p.Asp59Glu)
|
rs146083915
|
0.00891
|
NM_000207.3(INS):c.-9C>T
|
rs5505
|
0.00878
|
NM_001715.3(BLK):c.102C>T (p.Asp34=)
|
rs75383960
|
0.00743
|
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_001715.2(BLK):c.-530G>A
|
rs115316286
|
0.00661
|
NM_000207.3(INS):c.188-16C>T
|
rs5507
|
0.00616
|
NM_175914.5(HNF4A):c.393T>C (p.Asn131=)
|
rs113308087
|
0.00598
|
NM_001807.6(CEL):c.1833G>C (p.Gly611=)
|
rs1211933243
|
0.00547
|
NM_000290.4(PGAM2):c.366G>A (p.Pro122=)
|
rs143830182
|
0.00529
|
NM_000458.3(HNF1B):c.-178G>A
|
rs148442901
|
0.00528
|
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_001366110.1(PAX4):c.646-7C>T
|
rs11977988
|
0.00498
|
NM_000458.4(HNF1B):c.-67C>T
|
rs140699244
|
0.00491
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
NM_002500.5(NEUROD1):c.-60G>A
|
rs189844846
|
0.00441
|
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_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_001715.2(BLK):c.-441C>A
|
rs142686759
|
0.00409
|
NM_001366110.1(PAX4):c.*287C>T
|
rs12669223
|
0.00402
|
NM_000162.5(GCK):c.618G>A (p.Thr206=)
|
rs142817246
|
0.00400
|
NM_001807.6(CEL):c.402C>G (p.Gly134=)
|
rs150358550
|
0.00392
|
NM_000162.5(GCK):c.*92C>A
|
rs557990162
|
0.00389
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_000290.4(PGAM2):c.375G>A (p.Pro125=)
|
rs145985559
|
0.00382
|
NM_175914.5(HNF4A):c.696C>T (p.His232=)
|
rs150078978
|
0.00365
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
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_001715.2(BLK):c.-304C>G
|
rs151046937
|
0.00312
|
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu)
|
rs35776173
|
0.00300
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
NM_000298.6(PKLR):c.181C>T (p.Leu61=)
|
rs8177962
|
0.00289
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
NM_000545.8(HNF1A):c.276C>T (p.Leu92=)
|
rs34056805
|
0.00269
|
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)
|
rs79002951
|
0.00265
|
NM_000207.3(INS):c.188-10G>A
|
rs41275198
|
0.00262
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
NM_000162.5(GCK):c.*356G>A
|
rs146107173
|
0.00247
|
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)
|
rs150378513
|
0.00243
|
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)
|
rs145040928
|
0.00243
|
NM_000365.6(TPI1):c.*549A>G
|
rs114310136
|
0.00243
|
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_000458.4(HNF1B):c.444G>A (p.Ser148=)
|
rs147218489
|
0.00228
|
NM_001366110.1(PAX4):c.599G>A (p.Arg200His)
|
rs2233580
|
0.00220
|
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_000289.6(PFKM):c.2199-12A>G
|
rs202008060
|
0.00204
|
NM_001243177.4(ALDOA):c.274+4C>T
|
rs200278984
|
0.00204
|
NM_001366110.1(PAX4):c.14-188del
|
rs533462973
|
0.00204
|
NM_000545.5(HNF1A):c.-400C>T
|
rs77774709
|
0.00200
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
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_000289.6(PFKM):c.702A>T (p.Pro234=)
|
rs138022863
|
0.00185
|
NM_000289.6(PFKM):c.1500+29C>T
|
rs138256599
|
0.00183
|
NM_001715.3(BLK):c.711C>T (p.Pro237=)
|
rs143699141
|
0.00174
|
NM_053013.4(ENO3):c.86-10C>T
|
rs201571802
|
0.00174
|
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys)
|
rs146238335
|
0.00163
|
NM_003597.5(KLF11):c.225C>T (p.Val75=)
|
rs144083374
|
0.00158
|
NM_000458.4(HNF1B):c.*625C>T
|
rs188957129
|
0.00154
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
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_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_001243177.4(ALDOA):c.648C>G (p.Leu216=)
|
rs112110009
|
0.00124
|
NM_000175.5(GPI):c.987C>T (p.Asn329=)
|
rs140676743
|
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_000162.5(GCK):c.660C>T (p.Cys220=)
|
rs142952813
|
0.00109
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
NM_001807.6(CEL):c.1716C>G (p.Pro572=)
|
rs200152972
|
0.00108
|
NM_000352.6(ABCC8):c.1924-17C>T
|
rs117189973
|
0.00105
|
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_175914.5(HNF4A):c.*3143G>T
|
rs535731605
|
0.00101
|
NM_002500.4(NEUROD1):c.*1555C>T
|
rs192155087
|
0.00099
|
NM_175914.5(HNF4A):c.*277T>C
|
rs149998598
|
0.00099
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
NM_000162.5(GCK):c.*847G>A
|
rs76374134
|
0.00096
|
NM_003597.5(KLF11):c.486A>G (p.Pro162=)
|
rs146462049
|
0.00093
|
NM_000290.4(PGAM2):c.459C>T (p.Cys153=)
|
rs143809043
|
0.00089
|
NM_000291.4(PGK1):c.909G>C (p.Val303=)
|
rs142525614
|
0.00089
|
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln)
|
rs34762805
|
0.00088
|
NM_000545.8(HNF1A):c.156C>T (p.Gly52=)
|
rs150195625
|
0.00086
|
NM_000291.4(PGK1):c.390G>A (p.Gly130=)
|
rs146350576
|
0.00085
|
NM_001366110.1(PAX4):c.69T>C (p.Pro23=)
|
rs116124047
|
0.00085
|
NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
|
rs41282026
|
0.00084
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
NM_000545.8(HNF1A):c.1107+9C>G
|
rs17847497
|
0.00081
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
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_000209.4(PDX1):c.165C>A (p.Gly55=)
|
rs530567443
|
0.00078
|
NM_000209.4(PDX1):c.6C>T (p.Asn2=)
|
rs146936598
|
0.00078
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
NM_000365.6(TPI1):c.-31C>T
|
rs200692430
|
0.00076
|
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_001715.3(BLK):c.1338C>G (p.Arg446=)
|
rs377160616
|
0.00073
|
NM_001807.6(CEL):c.1335C>T (p.Pro445=)
|
rs371892814
|
0.00073
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_001243177.4(ALDOA):c.787-20G>A
|
rs75559164
|
0.00071
|
NM_005566.4(LDHA):c.696G>C (p.Lys232Asn)
|
rs141158742
|
0.00071
|
NM_000162.5(GCK):c.-215A>G
|
rs13306390
|
0.00065
|
NM_000458.4(HNF1B):c.*691A>G
|
rs751817675
|
0.00064
|
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_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=)
|
rs142231603
|
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_175914.5(HNF4A):c.*271C>T
|
rs11574745
|
0.00055
|
NM_001715.3(BLK):c.1302G>A (p.Val434=)
|
rs145686279
|
0.00054
|
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)
|
rs115887120
|
0.00051
|
NM_000162.5(GCK):c.*510C>T
|
rs141645300
|
0.00050
|
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_000289.6(PFKM):c.495T>A (p.Ile165=)
|
rs148858610
|
0.00046
|
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=)
|
rs143419532
|
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_175914.5(HNF4A):c.138G>A (p.Thr46=)
|
rs145845882
|
0.00043
|
NM_005566.4(LDHA):c.672G>A (p.Lys224=)
|
rs199918200
|
0.00041
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
NM_000298.6(PKLR):c.1686C>T (p.Ser562=)
|
rs140859641
|
0.00040
|
NM_003597.5(KLF11):c.1503G>A (p.Pro501=)
|
rs36091043
|
0.00040
|
NM_175914.5(HNF4A):c.921C>T (p.Asp307=)
|
rs151168174
|
0.00039
|
NM_000162.5(GCK):c.*735C>A
|
rs556996030
|
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_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
NM_000545.8(HNF1A):c.336G>A (p.Pro112=)
|
rs371365341
|
0.00036
|
NM_000352.6(ABCC8):c.2390+17G>C
|
rs200705248
|
0.00035
|
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_000289.6(PFKM):c.1611C>T (p.Asp537=)
|
rs764961084
|
0.00031
|
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_175914.5(HNF4A):c.*764C>T
|
rs537782818
|
0.00029
|
NM_000291.4(PGK1):c.642-20A>C
|
rs201622343
|
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_175914.5(HNF4A):c.*1395C>T
|
rs568456380
|
0.00026
|
NM_001243177.4(ALDOA):c.962-20G>A
|
rs189723657
|
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_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
NM_001366110.1(PAX4):c.762C>T (p.Ile254=)
|
rs147670794
|
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_000175.5(GPI):c.1497C>T (p.Phe499=)
|
rs138799755
|
0.00023
|
NM_000290.4(PGAM2):c.288A>G (p.Thr96=)
|
rs139561812
|
0.00023
|
NM_000289.6(PFKM):c.1653+8C>T
|
rs369425921
|
0.00022
|
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)
|
rs140230479
|
0.00022
|
NM_000458.4(HNF1B):c.852C>T (p.His284=)
|
rs149581999
|
0.00022
|
NM_000289.6(PFKM):c.459C>T (p.Ser153=)
|
rs145519821
|
0.00021
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
NM_001715.3(BLK):c.424A>G (p.Ile142Val)
|
rs562247916
|
0.00021
|
NM_005566.4(LDHA):c.777G>A (p.Leu259=)
|
rs137996815
|
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_000352.6(ABCC8):c.1678G>A (p.Val560Met)
|
rs4148619
|
0.00019
|
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)
|
rs144354798
|
0.00019
|
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=)
|
rs772550893
|
0.00019
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
NM_003597.5(KLF11):c.546C>A (p.Ser182Arg)
|
rs142266428
|
0.00019
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
NM_000365.6(TPI1):c.*178G>A
|
rs144171030
|
0.00018
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
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_001807.6(CEL):c.1677T>C (p.Pro559=)
|
rs527908529
|
0.00017
|
NM_003597.5(KLF11):c.*982G>A
|
rs550807244
|
0.00017
|
NM_005566.4(LDHA):c.594G>C (p.Val198=)
|
rs373534867
|
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_001715.3(BLK):c.93A>G (p.Gln31=)
|
rs369109733
|
0.00016
|
NM_053013.4(ENO3):c.249C>T (p.Ser83=)
|
rs145859308
|
0.00016
|
NM_175914.5(HNF4A):c.582+12C>T
|
rs372596032
|
0.00016
|
NM_000290.4(PGAM2):c.531C>G (p.Ala177=)
|
rs555158017
|
0.00015
|
NM_000458.3(HNF1B):c.-232C>T
|
rs142612536
|
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_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp)
|
rs753249965
|
0.00014
|
NM_000290.4(PGAM2):c.415-17G>A
|
rs370359405
|
0.00014
|
NM_000458.4(HNF1B):c.1046-12G>A
|
rs201751705
|
0.00014
|
NM_001243177.4(ALDOA):c.961+12A>G
|
rs200733968
|
0.00014
|
NM_001366110.1(PAX4):c.345G>A (p.Gln115=)
|
rs115157546
|
0.00014
|
NM_005566.4(LDHA):c.558T>C (p.His186=)
|
rs570034363
|
0.00014
|
NM_053013.4(ENO3):c.201G>A (p.Glu67=)
|
rs377545954
|
0.00014
|
NM_175914.5(HNF4A):c.*1364G>A
|
rs187923731
|
0.00014
|
NM_000458.4(HNF1B):c.-82G>T
|
rs886052892
|
0.00013
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00013
|
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys)
|
rs114315130
|
0.00013
|
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=)
|
rs147643871
|
0.00013
|
NM_003597.5(KLF11):c.*2274G>A
|
rs149368043
|
0.00012
|
NM_000162.5(GCK):c.649G>A (p.Asp217Asn)
|
rs147065275
|
0.00011
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
|
rs780650903
|
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_001715.3(BLK):c.772+16C>T
|
rs200129390
|
0.00011
|
NM_001807.6(CEL):c.358G>A (p.Val120Ile)
|
rs201336247
|
0.00011
|
NM_000291.4(PGK1):c.937-8C>T
|
rs367749559
|
0.00010
|
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)
|
rs199541853
|
0.00010
|
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=)
|
rs778961697
|
0.00010
|
NM_001715.3(BLK):c.18C>T (p.Ser6=)
|
rs113656715
|
0.00010
|
NM_005566.4(LDHA):c.711-8T>A
|
rs200483406
|
0.00010
|
NM_053013.4(ENO3):c.181+5G>A
|
rs200793919
|
0.00010
|
NM_053013.4(ENO3):c.444+20C>T
|
rs778632605
|
0.00010
|
NM_053013.4(ENO3):c.866-34_866-13del
|
rs1322708822
|
0.00010
|
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_000289.6(PFKM):c.2040C>T (p.Gly680=)
|
rs369893708
|
0.00009
|
NM_000289.6(PFKM):c.597C>T (p.His199=)
|
rs554169766
|
0.00009
|
NM_000289.6(PFKM):c.747+10C>T
|
rs1372921221
|
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.225C>T (p.Asp75=)
|
rs202180554
|
0.00009
|
NM_001366110.1(PAX4):c.498C>T (p.His166=)
|
rs143156250
|
0.00009
|
NM_005566.4(LDHA):c.162C>T (p.Ile54=)
|
rs200075826
|
0.00009
|
NM_005566.4(LDHA):c.435C>T (p.Tyr145=)
|
rs770829264
|
0.00009
|
NM_005566.4(LDHA):c.57C>T (p.Pro19=)
|
rs11553870
|
0.00009
|
NM_175914.5(HNF4A):c.*977C>G
|
rs367907885
|
0.00009
|
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=)
|
rs146318448
|
0.00008
|
NM_000289.6(PFKM):c.1501-15C>T
|
rs756212415
|
0.00008
|
NM_000291.4(PGK1):c.129T>C (p.Ala43=)
|
rs781822299
|
0.00008
|
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=)
|
rs368782953
|
0.00008
|
NM_000352.6(ABCC8):c.765C>T (p.Ile255=)
|
rs753335564
|
0.00008
|
NM_000365.6(TPI1):c.*519T>C
|
rs377186570
|
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_001243177.4(ALDOA):c.275-5C>T
|
rs752764982
|
0.00008
|
NM_003597.5(KLF11):c.1161C>T (p.Asp387=)
|
rs117449189
|
0.00008
|
NM_000209.4(PDX1):c.498A>G (p.Leu166=)
|
rs780117858
|
0.00007
|
NM_000289.6(PFKM):c.594-18T>A
|
rs372899080
|
0.00007
|
NM_000290.4(PGAM2):c.264T>C (p.Asn88=)
|
rs146272559
|
0.00007
|
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)
|
rs782668224
|
0.00007
|
NM_000458.4(HNF1B):c.1534+10C>T
|
rs368168569
|
0.00007
|
NM_001715.3(BLK):c.859G>A (p.Val287Met)
|
rs1042687
|
0.00007
|
NM_005566.4(LDHA):c.127-14T>C
|
rs764597107
|
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_000289.6(PFKM):c.238-17T>A
|
rs377146498
|
0.00006
|
NM_000290.4(PGAM2):c.36C>T (p.Gly12=)
|
rs369660945
|
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_000458.4(HNF1B):c.*701G>A
|
rs886052888
|
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_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_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
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_002500.5(NEUROD1):c.1050C>G (p.Leu350=)
|
rs778703927
|
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_005566.4(LDHA):c.406G>A (p.Val136Ile)
|
rs184074326
|
0.00006
|
NM_012096.3(APPL1):c.1926A>G (p.Ile642Met)
|
rs183787750
|
0.00006
|
NM_053013.4(ENO3):c.1208G>A (p.Arg403His)
|
rs561474067
|
0.00006
|
NM_175914.5(HNF4A):c.225-8C>T
|
rs759922116
|
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.840G>A (p.Leu280=)
|
rs181559088
|
0.00006
|
NM_000162.5(GCK):c.270G>A (p.Lys90=)
|
rs571528578
|
0.00005
|
NM_000289.6(PFKM):c.1127+13C>T
|
rs376042142
|
0.00005
|
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)
|
rs1203272613
|
0.00005
|
NM_000289.6(PFKM):c.1476C>T (p.Gly492=)
|
rs200847712
|
0.00005
|
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=)
|
rs745739278
|
0.00005
|
NM_000289.6(PFKM):c.2253C>A (p.Ile751=)
|
rs370779782
|
0.00005
|
NM_000289.6(PFKM):c.327G>A (p.Gly109=)
|
rs751902983
|
0.00005
|
NM_000290.4(PGAM2):c.596-3T>C
|
rs367994618
|
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_001243177.4(ALDOA):c.1002G>A (p.Ala334=)
|
rs532473202
|
0.00005
|
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=)
|
rs150741747
|
0.00005
|
NM_000162.5(GCK):c.1068G>T (p.Gly356=)
|
rs369103069
|
0.00004
|
NM_000162.5(GCK):c.834C>T (p.Asp278=)
|
rs200071687
|
0.00004
|
NM_000289.6(PFKM):c.1044C>G (p.Leu348=)
|
rs749882480
|
0.00004
|
NM_000289.6(PFKM):c.1063-18G>A
|
rs531023136
|
0.00004
|
NM_000289.6(PFKM):c.1063-19C>T
|
rs772630501
|
0.00004
|
NM_000289.6(PFKM):c.1320C>T (p.Phe440=)
|
rs540444775
|
0.00004
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
NM_000289.6(PFKM):c.1956C>T (p.Phe652=)
|
rs771733776
|
0.00004
|
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
|
rs772301967
|
0.00004
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
NM_000291.4(PGK1):c.116+8C>T
|
rs369581587
|
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_000365.6(TPI1):c.690C>T (p.Phe230=)
|
rs782267337
|
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_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_001243177.4(ALDOA):c.1161+8T>C
|
rs751467136
|
0.00004
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=)
|
rs751360534
|
0.00004
|
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=)
|
rs765883841
|
0.00004
|
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=)
|
rs148503847
|
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_002500.5(NEUROD1):c.973C>A (p.Arg325Ser)
|
rs368727469
|
0.00004
|
NM_005566.4(LDHA):c.951G>A (p.Lys317=)
|
rs145889467
|
0.00004
|
NM_053013.4(ENO3):c.182-16C>T
|
rs557068790
|
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_000162.5(GCK):c.138G>A (p.Arg46=)
|
rs550111033
|
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_000289.6(PFKM):c.1127+10T>C
|
rs759084382
|
0.00003
|
NM_000289.6(PFKM):c.1158G>A (p.Lys386=)
|
rs1216904332
|
0.00003
|
NM_000289.6(PFKM):c.1311T>C (p.His437=)
|
rs369182995
|
0.00003
|
NM_000289.6(PFKM):c.1413-20C>T
|
rs771066629
|
0.00003
|
NM_000289.6(PFKM):c.2092+17C>T
|
rs773403779
|
0.00003
|
NM_000289.6(PFKM):c.2092+9G>T
|
rs371778846
|
0.00003
|
NM_000289.6(PFKM):c.2233C>T (p.Leu745=)
|
rs771535478
|
0.00003
|
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=)
|
rs374418157
|
0.00003
|
NM_000290.4(PGAM2):c.381C>T (p.Asp127=)
|
rs530105632
|
0.00003
|
NM_000290.4(PGAM2):c.636G>A (p.Thr212=)
|
rs755991460
|
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_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_001243177.4(ALDOA):c.487-9C>T
|
rs1057523259
|
0.00003
|
NM_001243177.4(ALDOA):c.945G>C (p.Val315=)
|
rs780658545
|
0.00003
|
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr)
|
rs754458532
|
0.00003
|
NM_053013.4(ENO3):c.1047G>A (p.Ser349=)
|
rs527864393
|
0.00003
|
NM_053013.4(ENO3):c.1089T>C (p.Asn363=)
|
rs533687145
|
0.00003
|
NM_053013.4(ENO3):c.1176+7G>A
|
rs780236325
|
0.00003
|
NM_175914.5(HNF4A):c.*168G>T
|
rs1045382698
|
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_000162.5(GCK):c.-452G>A
|
rs187173652
|
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.849C>T (p.Asn283=)
|
rs199851776
|
0.00002
|
NM_000289.6(PFKM):c.1128-4A>G
|
rs570665595
|
0.00002
|
NM_000289.6(PFKM):c.1200G>A (p.Ser400=)
|
rs746775189
|
0.00002
|
NM_000289.6(PFKM):c.1308C>G (p.Val436=)
|
rs779395140
|
0.00002
|
NM_000289.6(PFKM):c.1464T>C (p.Phe488=)
|
rs374814413
|
0.00002
|
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)
|
rs753681797
|
0.00002
|
NM_000289.6(PFKM):c.2097G>C (p.Arg699=)
|
rs776783895
|
0.00002
|
NM_000289.6(PFKM):c.2176C>T (p.Leu726=)
|
rs761487239
|
0.00002
|
NM_000289.6(PFKM):c.2337C>T (p.Ala779=)
|
rs748647298
|
0.00002
|
NM_000289.6(PFKM):c.471C>T (p.Asn157=)
|
rs1223915629
|
0.00002
|
NM_000289.6(PFKM):c.834C>T (p.Asp278=)
|
rs776432077
|
0.00002
|
NM_000289.6(PFKM):c.912G>A (p.Thr304=)
|
rs764516934
|
0.00002
|
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
|
rs755125202
|
0.00002
|
NM_000290.4(PGAM2):c.276C>T (p.Tyr92=)
|
rs201201589
|
0.00002
|
NM_000290.4(PGAM2):c.595+11C>T
|
rs760737158
|
0.00002
|
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser)
|
rs782084984
|
0.00002
|
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser)
|
rs781839243
|
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.702C>T (p.Asn234=)
|
rs758289249
|
0.00002
|
NM_000365.6(TPI1):c.116-13A>G
|
rs782238701
|
0.00002
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly)
|
rs375644184
|
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.264G>A (p.Glu88=)
|
rs201223431
|
0.00002
|
NM_000545.8(HNF1A):c.978G>A (p.Ala326=)
|
rs200351196
|
0.00002
|
NM_001243177.4(ALDOA):c.498C>T (p.Gly166=)
|
rs145811469
|
0.00002
|
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=)
|
rs769378422
|
0.00002
|
NM_001715.3(BLK):c.27G>A (p.Pro9=)
|
rs536630306
|
0.00002
|
NM_002300.8(LDHB):c.472C>T (p.Arg158Cys)
|
rs532712842
|
0.00002
|
NM_005566.4(LDHA):c.-24-10C>G
|
rs200267888
|
0.00002
|
NM_005566.4(LDHA):c.249T>C (p.Tyr83=)
|
rs199653952
|
0.00002
|
NM_005566.4(LDHA):c.39A>C (p.Leu13=)
|
rs371221146
|
0.00002
|
NM_053013.4(ENO3):c.555C>T (p.Gly185=)
|
rs757606682
|
0.00002
|
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=)
|
rs758836138
|
0.00002
|
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_000209.4(PDX1):c.216C>T (p.Pro72=)
|
rs193922353
|
0.00001
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
NM_000289.6(PFKM):c.1014C>G (p.Leu338=)
|
rs745952414
|
0.00001
|
NM_000289.6(PFKM):c.103A>C (p.Arg35=)
|
rs1057522048
|
0.00001
|
NM_000289.6(PFKM):c.1041C>T (p.Pro347=)
|
rs1350163599
|
0.00001
|
NM_000289.6(PFKM):c.1104C>T (p.Asp368=)
|
rs151045985
|
0.00001
|
NM_000289.6(PFKM):c.1149G>A (p.Glu383=)
|
rs765367927
|
0.00001
|
NM_000289.6(PFKM):c.1192-16G>A
|
rs756542348
|
0.00001
|
NM_000289.6(PFKM):c.1192-4A>G
|
rs1320880960
|
0.00001
|
NM_000289.6(PFKM):c.1192-7T>C
|
rs1445315219
|
0.00001
|
NM_000289.6(PFKM):c.123T>C (p.Gly41=)
|
rs756442663
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.1260C>T (p.Arg420=)
|
rs756454146
|
0.00001
|
NM_000289.6(PFKM):c.1275T>C (p.Ile425=)
|
rs1592789738
|
0.00001
|
NM_000289.6(PFKM):c.129C>T (p.Phe43=)
|
rs1181855702
|
0.00001
|
NM_000289.6(PFKM):c.132C>T (p.Thr44=)
|
rs780240624
|
0.00001
|
NM_000289.6(PFKM):c.1374C>G (p.Gly458=)
|
rs765683112
|
0.00001
|
NM_000289.6(PFKM):c.138C>T (p.Ala46=)
|
rs1413157674
|
0.00001
|
NM_000289.6(PFKM):c.1455A>C (p.Ile485=)
|
rs1404730324
|
0.00001
|
NM_000289.6(PFKM):c.159+10G>A
|
rs772752063
|
0.00001
|
NM_000289.6(PFKM):c.1599C>T (p.Val533=)
|
rs1308260209
|
0.00001
|
NM_000289.6(PFKM):c.160-11G>C
|
rs770427697
|
0.00001
|
NM_000289.6(PFKM):c.1617C>T (p.Ser539=)
|
rs371605516
|
0.00001
|
NM_000289.6(PFKM):c.1653+10T>C
|
rs1355868874
|
0.00001
|
NM_000289.6(PFKM):c.1761A>G (p.Ala587=)
|
rs1950696961
|
0.00001
|
NM_000289.6(PFKM):c.1818+10C>T
|
rs774040508
|
0.00001
|
NM_000289.6(PFKM):c.1857T>C (p.Thr619=)
|
rs762229855
|
0.00001
|
NM_000289.6(PFKM):c.1908C>T (p.Thr636=)
|
rs748755500
|
0.00001
|
NM_000289.6(PFKM):c.1980T>A (p.Gly660=)
|
rs1180149962
|
0.00001
|
NM_000289.6(PFKM):c.1993-6C>T
|
rs1258118168
|
0.00001
|
NM_000289.6(PFKM):c.2034G>A (p.Lys678=)
|
rs1426948180
|
0.00001
|
NM_000289.6(PFKM):c.2093-9T>G
|
rs1425536614
|
0.00001
|
NM_000289.6(PFKM):c.216C>T (p.Ser72=)
|
rs760812841
|
0.00001
|
NM_000289.6(PFKM):c.2199-4G>A
|
rs1195176028
|
0.00001
|
NM_000289.6(PFKM):c.222G>A (p.Ser74=)
|
rs754074132
|
0.00001
|
NM_000289.6(PFKM):c.2292T>C (p.His764=)
|
rs765145687
|
0.00001
|
NM_000289.6(PFKM):c.2325C>T (p.Ser775=)
|
rs780497709
|
0.00001
|
NM_000289.6(PFKM):c.237+10A>G
|
rs753085406
|
0.00001
|
NM_000289.6(PFKM):c.238-9C>T
|
rs1410090927
|
0.00001
|
NM_000289.6(PFKM):c.276T>C (p.Phe92=)
|
rs1479575063
|
0.00001
|
NM_000289.6(PFKM):c.318G>A (p.Val106=)
|
rs775680284
|
0.00001
|
NM_000289.6(PFKM):c.333C>T (p.Thr111=)
|
rs767919774
|
0.00001
|
NM_000289.6(PFKM):c.36G>A (p.Leu12=)
|
rs765868040
|
0.00001
|
NM_000289.6(PFKM):c.375T>C (p.Ala125=)
|
rs748925843
|
0.00001
|
NM_000289.6(PFKM):c.384C>T (p.Phe128=)
|
rs771979702
|
0.00001
|
NM_000289.6(PFKM):c.393G>A (p.Glu131=)
|
rs1949678398
|
0.00001
|
NM_000289.6(PFKM):c.428-5G>A
|
rs530415874
|
0.00001
|
NM_000289.6(PFKM):c.477G>T (p.Val159=)
|
rs1409128392
|
0.00001
|
NM_000289.6(PFKM):c.483G>A (p.Leu161=)
|
rs199856938
|
0.00001
|
NM_000289.6(PFKM):c.546G>A (p.Leu182=)
|
rs779095033
|
0.00001
|
NM_000289.6(PFKM):c.570T>C (p.Asp190=)
|
rs761133325
|
0.00001
|
NM_000289.6(PFKM):c.638+20C>T
|
rs901548166
|
0.00001
|
NM_000289.6(PFKM):c.66C>G (p.Thr22=)
|
rs995717911
|
0.00001
|
NM_000289.6(PFKM):c.675C>T (p.Ala225=)
|
rs1368560997
|
0.00001
|
NM_000289.6(PFKM):c.711C>T (p.Asp237=)
|
rs768094970
|
0.00001
|
NM_000289.6(PFKM):c.825C>T (p.Thr275=)
|
rs1173987256
|
0.00001
|
NM_000289.6(PFKM):c.844-4T>C
|
rs1366950106
|
0.00001
|
NM_000289.6(PFKM):c.844-8C>T
|
rs1422456826
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
|
rs753083173
|
0.00001
|
NM_000289.6(PFKM):c.927C>T (p.Asp309=)
|
rs752179477
|
0.00001
|
NM_000289.6(PFKM):c.987A>T (p.Pro329=)
|
rs932393961
|
0.00001
|
NM_000289.6(PFKM):c.993C>G (p.Thr331=)
|
rs754716303
|
0.00001
|
NM_000290.4(PGAM2):c.363C>T (p.Ile121=)
|
rs768642477
|
0.00001
|
NM_000290.4(PGAM2):c.90G>A (p.Leu30=)
|
rs759827542
|
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.2916G>A (p.Glu972=)
|
rs1954592292
|
0.00001
|
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)
|
rs1387302006
|
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.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.1695C>T (p.Leu565=)
|
rs762669462
|
0.00001
|
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=)
|
rs756416683
|
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.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=)
|
rs3169548
|
0.00001
|
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=)
|
rs758280973
|
0.00001
|
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=)
|
rs573479181
|
0.00001
|
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp)
|
rs565013143
|
0.00001
|
NM_001715.3(BLK):c.1371C>T (p.Pro457=)
|
rs1356289485
|
0.00001
|
NM_005566.4(LDHA):c.222A>G (p.Thr74=)
|
rs201254300
|
0.00001
|
NM_005566.4(LDHA):c.285G>A (p.Thr95=)
|
rs202160072
|
0.00001
|
NM_005566.4(LDHA):c.291G>A (p.Gly97=)
|
rs200724597
|
0.00001
|
NM_053013.4(ENO3):c.241-11C>T
|
rs769465776
|
0.00001
|
NM_053013.4(ENO3):c.363G>A (p.Ala121=)
|
rs201872558
|
0.00001
|
NM_053013.4(ENO3):c.444+17G>A
|
rs757072121
|
0.00001
|
NM_053013.4(ENO3):c.444+9A>G
|
rs567523833
|
0.00001
|
NM_053013.4(ENO3):c.66G>A (p.Val22=)
|
rs373571348
|
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.1069C>G (p.Pro357Ala)
|
rs201319115
|
0.00001
|
NM_175914.5(HNF4A):c.123C>T (p.Cys41=)
|
rs147552575
|
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.489A>G (p.Ala163=)
|
rs1568731613
|
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
|
GCK:c.864-159_864-149del
|
rs386134235
|
|
NC_000012.12:g.48107385C>T
|
|
|
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.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.909G>T (p.Arg303=)
|
rs1583594459
|
|
NM_000162.5(GCK):c.921C>G (p.Leu307=)
|
|
|
NM_000175.5(GPI):c.1063-13G>C
|
|
|
NM_000175.5(GPI):c.1143G>C (p.Gly381=)
|
rs1214297048
|
|
NM_000175.5(GPI):c.487-14A>G
|
|
|
NM_000175.5(GPI):c.603C>G (p.Pro201=)
|
rs1062480
|
|
NM_000175.5(GPI):c.751-5del
|
rs375313737
|
|
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_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.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_000289.6(PFKM):c.1002T>C (p.Cys334=)
|
|
|
NM_000289.6(PFKM):c.1017T>C (p.Ser339=)
|
rs2135957213
|
|
NM_000289.6(PFKM):c.1020T>C (p.Gly340=)
|
rs2135957243
|
|
NM_000289.6(PFKM):c.1023C>T (p.Asn341=)
|
rs2135957291
|
|
NM_000289.6(PFKM):c.1029T>A (p.Ala343=)
|
rs2135957401
|
|
NM_000289.6(PFKM):c.1029T>C (p.Ala343=)
|
|
|
NM_000289.6(PFKM):c.1032G>A (p.Val344=)
|
rs1329869497
|
|
NM_000289.6(PFKM):c.1035C>T (p.Arg345=)
|
|
|
NM_000289.6(PFKM):c.1036C>T (p.Leu346=)
|
|
|
NM_000289.6(PFKM):c.1062+14C>T
|
|
|
NM_000289.6(PFKM):c.1062+20C>T
|
|
|
NM_000289.6(PFKM):c.1062+8C>T
|
|
|
NM_000289.6(PFKM):c.1062+9T>C
|
|
|
NM_000289.6(PFKM):c.1062G>T (p.Val354=)
|
|
|
NM_000289.6(PFKM):c.1063-10C>A
|
|
|
NM_000289.6(PFKM):c.1063-10C>T
|
|
|
NM_000289.6(PFKM):c.1063-18G>C
|
|
|
NM_000289.6(PFKM):c.1063-20T>A
|
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-6C>G
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-6C>T
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-7C>A
|
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
NM_000289.6(PFKM):c.1063-8C>T
|
|
|
NM_000289.6(PFKM):c.1077C>G (p.Thr359=)
|
rs2135975682
|
|
NM_000289.6(PFKM):c.1077C>T (p.Thr359=)
|
|
|
NM_000289.6(PFKM):c.1080G>A (p.Lys360=)
|
|
|
NM_000289.6(PFKM):c.108T>C (p.Ala36=)
|
rs1949346132
|
|
NM_000289.6(PFKM):c.1113G>A (p.Leu371=)
|
rs2135976209
|
|
NM_000289.6(PFKM):c.1122A>G (p.Arg374=)
|
|
|
NM_000289.6(PFKM):c.1127+10T>A
|
|
|
NM_000289.6(PFKM):c.1127+14G>A
|
|
|
NM_000289.6(PFKM):c.1127+19G>A
|
|
|
NM_000289.6(PFKM):c.1127+19G>T
|
|
|
NM_000289.6(PFKM):c.1127+7A>G
|
rs2135976553
|
|
NM_000289.6(PFKM):c.1127+8G>A
|
rs2135976581
|
|
NM_000289.6(PFKM):c.1127+9A>C
|
rs2135976634
|
|
NM_000289.6(PFKM):c.1128-10C>A
|
rs2135982206
|
|
NM_000289.6(PFKM):c.1128-10C>T
|
rs2135982206
|
|
NM_000289.6(PFKM):c.1128-15T>C
|
|
|
NM_000289.6(PFKM):c.1128-16T>A
|
|
|
NM_000289.6(PFKM):c.1128-17A>G
|
|
|
NM_000289.6(PFKM):c.1128-18T>C
|
|
|
NM_000289.6(PFKM):c.1128-19_1128-16del
|
|
|
NM_000289.6(PFKM):c.114T>C (p.Val38=)
|
|
|
NM_000289.6(PFKM):c.1152G>A (p.Val384=)
|
|
|
NM_000289.6(PFKM):c.1161T>C (p.Leu387=)
|
rs1950427025
|
|
NM_000289.6(PFKM):c.1164A>G (p.Leu388=)
|
rs2135982704
|
|
NM_000289.6(PFKM):c.1182G>A (p.Pro394=)
|
rs372189049
|
|
NM_000289.6(PFKM):c.1191+11G>T
|
|
|
NM_000289.6(PFKM):c.1191+13T>G
|
|
|
NM_000289.6(PFKM):c.1192-10T>C
|
|
|
NM_000289.6(PFKM):c.1192-11C>T
|
|
|
NM_000289.6(PFKM):c.1192-12C>G
|
|
|
NM_000289.6(PFKM):c.1192-19C>T
|
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
NM_000289.6(PFKM):c.1192-5T>C
|
rs778432092
|
|
NM_000289.6(PFKM):c.1192-6G>C
|
|
|
NM_000289.6(PFKM):c.1192-9C>T
|
|
|
NM_000289.6(PFKM):c.1209G>A (p.Val403=)
|
|
|
NM_000289.6(PFKM):c.1221C>T (p.Asn407=)
|
rs764231757
|
|
NM_000289.6(PFKM):c.1224G>C (p.Val408=)
|
rs762040245
|
|
NM_000289.6(PFKM):c.1224G>T (p.Val408=)
|
|
|
NM_000289.6(PFKM):c.1248T>C (p.Asn416=)
|
|
|
NM_000289.6(PFKM):c.1254T>G (p.Ala418=)
|
rs1592789513
|
|
NM_000289.6(PFKM):c.1266T>C (p.Thr422=)
|
|
|
NM_000289.6(PFKM):c.1281T>C (p.Leu427=)
|
|
|
NM_000289.6(PFKM):c.1293C>T (p.Asn431=)
|
rs1325830143
|
|
NM_000289.6(PFKM):c.1302C>G (p.Leu434=)
|
|
|
NM_000289.6(PFKM):c.1302C>T (p.Leu434=)
|
rs1217619963
|
|
NM_000289.6(PFKM):c.1314T>C (p.Asp438=)
|
|
|
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)
|
rs1555206566
|
|
NM_000289.6(PFKM):c.1342-13C>T
|
|
|
NM_000289.6(PFKM):c.1342-7C>T
|
rs1592793920
|
|
NM_000289.6(PFKM):c.1342-8C>T
|
|
|
NM_000289.6(PFKM):c.1342-9del
|
rs2136000813
|
|
NM_000289.6(PFKM):c.1347G>A (p.Glu449=)
|
rs1383781379
|
|
NM_000289.6(PFKM):c.1383C>T (p.Gly461=)
|
|
|
NM_000289.6(PFKM):c.1392C>T (p.Gly464=)
|
|
|
NM_000289.6(PFKM):c.1407T>C (p.Thr469=)
|
|
|
NM_000289.6(PFKM):c.1412+11C>G
|
|
|
NM_000289.6(PFKM):c.1412+14C>T
|
|
|
NM_000289.6(PFKM):c.1412+16G>T
|
|
|
NM_000289.6(PFKM):c.1412+17A>C
|
|
|
NM_000289.6(PFKM):c.1412+19G>T
|
|
|
NM_000289.6(PFKM):c.1412+20C>T
|
|
|
NM_000289.6(PFKM):c.1412+9C>T
|
rs2136001614
|
|
NM_000289.6(PFKM):c.1413-16A>G
|
|
|
NM_000289.6(PFKM):c.1413-5A>T
|
rs2136006212
|
|
NM_000289.6(PFKM):c.1416T>C (p.Thr472=)
|
rs1950594557
|
|
NM_000289.6(PFKM):c.1417C>T (p.Leu473=)
|
rs1950594770
|
|
NM_000289.6(PFKM):c.1443C>T (p.Ile481=)
|
rs2136006513
|
|
NM_000289.6(PFKM):c.1452T>C (p.Asn484=)
|
|
|
NM_000289.6(PFKM):c.147C>T (p.Phe49=)
|
|
|
NM_000289.6(PFKM):c.1491G>C (p.Gly497=)
|
|
|
NM_000289.6(PFKM):c.1500+14A>G
|
|
|
NM_000289.6(PFKM):c.1500+15C>T
|
|
|
NM_000289.6(PFKM):c.1500+9C>T
|
rs1315594001
|
|
NM_000289.6(PFKM):c.1501-12TCT[2]
|
rs1230657170
|
|
NM_000289.6(PFKM):c.1501-5C>A
|
|
|
NM_000289.6(PFKM):c.1501-8C>T
|
|
|
NM_000289.6(PFKM):c.1503T>A (p.Ala501=)
|
rs1421392490
|
|
NM_000289.6(PFKM):c.1503T>G (p.Ala501=)
|
rs1421392490
|
|
NM_000289.6(PFKM):c.1506C>T (p.Tyr502=)
|
rs2136008624
|
|
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
|
|
|
NM_000289.6(PFKM):c.1521A>G (p.Glu507=)
|
rs1592800238
|
|
NM_000289.6(PFKM):c.1522C>T (p.Leu508=)
|
|
|
NM_000289.6(PFKM):c.1530G>A (p.Glu510=)
|
|
|
NM_000289.6(PFKM):c.1557C>T (p.Cys519=)
|
|
|
NM_000289.6(PFKM):c.1563A>G (p.Pro521=)
|
rs2136009337
|
|
NM_000289.6(PFKM):c.156T>C (p.His52=)
|
|
|
NM_000289.6(PFKM):c.1581T>C (p.Ala527=)
|
|
|
NM_000289.6(PFKM):c.1587C>T (p.Val529=)
|
rs1406744971
|
|
NM_000289.6(PFKM):c.159+11T>C
|
|
|
NM_000289.6(PFKM):c.159+14T>C
|
|
|
NM_000289.6(PFKM):c.159+16T>C
|
|
|
NM_000289.6(PFKM):c.1596T>C (p.Asn532=)
|
|
|
NM_000289.6(PFKM):c.1599C>A (p.Val533=)
|
rs1308260209
|
|
NM_000289.6(PFKM):c.15G>A (p.Glu5=)
|
|
|
NM_000289.6(PFKM):c.160-11G>A
|
|
|
NM_000289.6(PFKM):c.160-13A>C
|
|
|
NM_000289.6(PFKM):c.160-13A>T
|
|
|
NM_000289.6(PFKM):c.160-14A>G
|
|
|
NM_000289.6(PFKM):c.160-16A>G
|
|
|
NM_000289.6(PFKM):c.160-18G>A
|
|
|
NM_000289.6(PFKM):c.160-4A>G
|
|
|
NM_000289.6(PFKM):c.1626T>C (p.Ala542=)
|
rs2136010141
|
|
NM_000289.6(PFKM):c.1632A>G (p.Thr544=)
|
rs2136010299
|
|
NM_000289.6(PFKM):c.1644T>C (p.Thr548=)
|
|
|
NM_000289.6(PFKM):c.1647C>A (p.Ile549=)
|
rs780042405
|
|
NM_000289.6(PFKM):c.1653+12T>A
|
|
|
NM_000289.6(PFKM):c.1653+15C>T
|
|
|
NM_000289.6(PFKM):c.1653+19T>C
|
|
|
NM_000289.6(PFKM):c.1653+7G>A
|
|
|
NM_000289.6(PFKM):c.1653+8C>G
|
rs369425921
|
|
NM_000289.6(PFKM):c.1653+9C>A
|
rs1442520537
|
|
NM_000289.6(PFKM):c.1654-20A>G
|
|
|
NM_000289.6(PFKM):c.1654-5T>C
|
|
|
NM_000289.6(PFKM):c.1654-7C>T
|
|
|
NM_000289.6(PFKM):c.1659T>C (p.Cys553=)
|
rs2136019328
|
|
NM_000289.6(PFKM):c.1695T>C (p.Arg565=)
|
|
|
NM_000289.6(PFKM):c.1701G>A (p.Val567=)
|
rs2136019645
|
|
NM_000289.6(PFKM):c.1707C>A (p.Ile569=)
|
|
|
NM_000289.6(PFKM):c.1713G>A (p.Glu571=)
|
|
|
NM_000289.6(PFKM):c.171C>A (p.Gly57=)
|
rs1949456909
|
|
NM_000289.6(PFKM):c.171C>T (p.Gly57=)
|
|
|
NM_000289.6(PFKM):c.1725C>T (p.Gly575=)
|
|
|
NM_000289.6(PFKM):c.1728C>T (p.Tyr576=)
|
|
|
NM_000289.6(PFKM):c.1746C>T (p.Thr582=)
|
rs2136020208
|
|
NM_000289.6(PFKM):c.1761A>C (p.Ala587=)
|
|
|
NM_000289.6(PFKM):c.1767G>C (p.Gly589=)
|
|
|
NM_000289.6(PFKM):c.1779C>G (p.Ala593=)
|
rs1592808888
|
|
NM_000289.6(PFKM):c.1791G>A (p.Glu597=)
|
|
|
NM_000289.6(PFKM):c.1797C>T (p.Pro599=)
|
|
|
NM_000289.6(PFKM):c.1803C>T (p.Thr601=)
|
|
|
NM_000289.6(PFKM):c.1807C>A (p.Arg603=)
|
|
|
NM_000289.6(PFKM):c.1812C>T (p.Asp604=)
|
|
|
NM_000289.6(PFKM):c.1818+13C>A
|
|
|
NM_000289.6(PFKM):c.1818+15A>G
|
|
|
NM_000289.6(PFKM):c.1818+17del
|
|
|
NM_000289.6(PFKM):c.1818+19C>A
|
|
|
NM_000289.6(PFKM):c.1819-9C>A
|
rs755585302
|
|
NM_000289.6(PFKM):c.1819-9C>G
|
|
|
NM_000289.6(PFKM):c.1834C>T (p.Leu612=)
|
rs2136032182
|
|
NM_000289.6(PFKM):c.1842A>G (p.Gln614=)
|
|
|
NM_000289.6(PFKM):c.1866G>A (p.Arg622=)
|
|
|
NM_000289.6(PFKM):c.186A>C (p.Gly62=)
|
rs750471184
|
|
NM_000289.6(PFKM):c.1875G>A (p.Val625=)
|
rs1321101853
|
|
NM_000289.6(PFKM):c.1880+11C>G
|
|
|
NM_000289.6(PFKM):c.1880+12A>G
|
|
|
NM_000289.6(PFKM):c.1880+13T>C
|
|
|
NM_000289.6(PFKM):c.1880+19G>C
|
|
|
NM_000289.6(PFKM):c.1880+19G>T
|
|
|
NM_000289.6(PFKM):c.1881-8C>T
|
rs779486479
|
|
NM_000289.6(PFKM):c.1884T>C (p.Asn628=)
|
rs2136035977
|
|
NM_000289.6(PFKM):c.1896T>C (p.Asn632=)
|
|
|
NM_000289.6(PFKM):c.18C>T (p.His6=)
|
|
|
NM_000289.6(PFKM):c.1902C>T (p.Asn634=)
|
|
|
NM_000289.6(PFKM):c.1905T>C (p.Tyr635=)
|
|
|
NM_000289.6(PFKM):c.1908C>G (p.Thr636=)
|
|
|
NM_000289.6(PFKM):c.192C>T (p.His64=)
|
rs2135857209
|
|
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=)
|
rs1950814614
|
|
NM_000289.6(PFKM):c.1938G>A (p.Glu646=)
|
|
|
NM_000289.6(PFKM):c.1941G>A (p.Glu647=)
|
rs2136036321
|
|
NM_000289.6(PFKM):c.1947G>A (p.Lys649=)
|
|
|
NM_000289.6(PFKM):c.1953C>A (p.Ile651=)
|
|
|
NM_000289.6(PFKM):c.1962C>T (p.Ser654=)
|
|
|
NM_000289.6(PFKM):c.1989G>A (p.Gln663=)
|
|
|
NM_000289.6(PFKM):c.1992+13C>G
|
|
|
NM_000289.6(PFKM):c.1992+13C>T
|
|
|
NM_000289.6(PFKM):c.1992+14C>T
|
|
|
NM_000289.6(PFKM):c.1992+15G>A
|
|
|
NM_000289.6(PFKM):c.1992+17A>G
|
|
|
NM_000289.6(PFKM):c.1992+20C>A
|
|
|
NM_000289.6(PFKM):c.1992+20C>T
|
|
|
NM_000289.6(PFKM):c.1993-16A>G
|
|
|
NM_000289.6(PFKM):c.1993-16_1993-15del
|
|
|
NM_000289.6(PFKM):c.1995T>C (p.Gly665=)
|
rs770758369
|
|
NM_000289.6(PFKM):c.2001C>T (p.Ser667=)
|
|
|
NM_000289.6(PFKM):c.2007C>A (p.Thr669=)
|
|
|
NM_000289.6(PFKM):c.2019G>A (p.Arg673=)
|
rs1950913988
|
|
NM_000289.6(PFKM):c.201A>G (p.Glu67=)
|
|
|
NM_000289.6(PFKM):c.2043C>A (p.Ala681=)
|
|
|
NM_000289.6(PFKM):c.2043C>T (p.Ala681=)
|
|
|
NM_000289.6(PFKM):c.2046G>A (p.Lys682=)
|
|
|
NM_000289.6(PFKM):c.204C>T (p.Ala68=)
|
rs2135857231
|
|
NM_000289.6(PFKM):c.2064T>G (p.Ser688=)
|
|
|
NM_000289.6(PFKM):c.2070A>G (p.Lys690=)
|
|
|
NM_000289.6(PFKM):c.2073C>A (p.Ile691=)
|
|
|
NM_000289.6(PFKM):c.2092+12G>A
|
|
|
NM_000289.6(PFKM):c.2092+18G>A
|
|
|
NM_000289.6(PFKM):c.2092+20G>A
|
|
|
NM_000289.6(PFKM):c.2092+7G>A
|
rs2136049384
|
|
NM_000289.6(PFKM):c.2092+8G>A
|
rs2136049447
|
|
NM_000289.6(PFKM):c.2092+9G>A
|
rs371778846
|
|
NM_000289.6(PFKM):c.2093-5T>C
|
rs2136050932
|
|
NM_000289.6(PFKM):c.2093-6T>C
|
|
|
NM_000289.6(PFKM):c.2093-7A>C
|
|
|
NM_000289.6(PFKM):c.2093-8C>T
|
|
|
NM_000289.6(PFKM):c.2106C>T (p.Ala702=)
|
|
|
NM_000289.6(PFKM):c.2124C>G (p.Gly708=)
|
|
|
NM_000289.6(PFKM):c.2127T>C (p.Cys709=)
|
rs2136051296
|
|
NM_000289.6(PFKM):c.2133G>A (p.Leu711=)
|
|
|
NM_000289.6(PFKM):c.2166A>G (p.Pro722=)
|
rs2136051603
|
|
NM_000289.6(PFKM):c.2169G>A (p.Val723=)
|
|
|
NM_000289.6(PFKM):c.2175G>A (p.Glu725=)
|
|
|
NM_000289.6(PFKM):c.2184C>T (p.Asp728=)
|
|
|
NM_000289.6(PFKM):c.2190A>G (p.Thr730=)
|
rs926218950
|
|
NM_000289.6(PFKM):c.2190A>T (p.Thr730=)
|
|
|
NM_000289.6(PFKM):c.2198+8C>T
|
|
|
NM_000289.6(PFKM):c.2198+9A>C
|
|
|
NM_000289.6(PFKM):c.2198+9A>G
|
|
|
NM_000289.6(PFKM):c.2199-15C>T
|
|
|
NM_000289.6(PFKM):c.2199-16C>T
|
|
|
NM_000289.6(PFKM):c.2199-5T>C
|
|
|
NM_000289.6(PFKM):c.2199-8C>T
|
|
|
NM_000289.6(PFKM):c.2199-9C>T
|
rs2136054913
|
|
NM_000289.6(PFKM):c.21T>C (p.His7=)
|
rs2137860144
|
|
NM_000289.6(PFKM):c.2211C>G (p.Pro737=)
|
rs1165739164
|
|
NM_000289.6(PFKM):c.2217A>G (p.Glu739=)
|
rs1950977568
|
|
NM_000289.6(PFKM):c.2220G>A (p.Gln740=)
|
|
|
NM_000289.6(PFKM):c.222G>T (p.Ser74=)
|
rs754074132
|
|
NM_000289.6(PFKM):c.2236A>C (p.Arg746=)
|
rs1592832534
|
|
NM_000289.6(PFKM):c.2241C>A (p.Pro747=)
|
|
|
NM_000289.6(PFKM):c.2241C>T (p.Pro747=)
|
rs1350195023
|
|
NM_000289.6(PFKM):c.2244C>A (p.Ile748=)
|
|
|
NM_000289.6(PFKM):c.2247C>T (p.Leu749=)
|
|
|
NM_000289.6(PFKM):c.2259C>T (p.Ala753=)
|
|
|
NM_000289.6(PFKM):c.2262G>A (p.Lys754=)
|
|
|
NM_000289.6(PFKM):c.2268G>A (p.Glu756=)
|
rs2136055950
|
|
NM_000289.6(PFKM):c.2271T>C (p.Ile757=)
|
|
|
NM_000289.6(PFKM):c.2277G>A (p.Leu759=)
|
rs1430120826
|
|
NM_000289.6(PFKM):c.2283T>C (p.Thr761=)
|
|
|
NM_000289.6(PFKM):c.2286A>G (p.Ser762=)
|
rs1592832978
|
|
NM_000289.6(PFKM):c.2298C>T (p.His766=)
|
|
|
NM_000289.6(PFKM):c.2307C>T (p.His769=)
|
|
|
NM_000289.6(PFKM):c.2313C>T (p.Thr771=)
|
|
|
NM_000289.6(PFKM):c.2322G>A (p.Arg774=)
|
rs2136056634
|
|
NM_000289.6(PFKM):c.2334T>A (p.Ala778=)
|
rs8716
|
|
NM_000289.6(PFKM):c.2337C>G (p.Ala779=)
|
rs748647298
|
|
NM_000289.6(PFKM):c.237+17T>C
|
|
|
NM_000289.6(PFKM):c.237+8C>T
|
|
|
NM_000289.6(PFKM):c.238-12C>T
|
|
|
NM_000289.6(PFKM):c.238-13A>G
|
|
|
NM_000289.6(PFKM):c.238-20G>A
|
|
|
NM_000289.6(PFKM):c.262C>A (p.Arg88=)
|
|
|
NM_000289.6(PFKM):c.264G>A (p.Arg88=)
|
|
|
NM_000289.6(PFKM):c.277C>A (p.Arg93=)
|
|
|
NM_000289.6(PFKM):c.291A>C (p.Gly97=)
|
rs2135884772
|
|
NM_000289.6(PFKM):c.297C>T (p.Leu99=)
|
rs1181881387
|
|
NM_000289.6(PFKM):c.309C>T (p.Tyr103=)
|
rs2135885049
|
|
NM_000289.6(PFKM):c.321G>A (p.Lys107=)
|
|
|
NM_000289.6(PFKM):c.34C>T (p.Leu12=)
|
|
|
NM_000289.6(PFKM):c.354T>A (p.Gly118=)
|
|
|
NM_000289.6(PFKM):c.354T>C (p.Gly118=)
|
rs1187514309
|
|
NM_000289.6(PFKM):c.363C>T (p.Ser121=)
|
|
|
NM_000289.6(PFKM):c.366C>T (p.Leu122=)
|
rs2135886000
|
|
NM_000289.6(PFKM):c.369T>G (p.Thr123=)
|
rs1592727757
|
|
NM_000289.6(PFKM):c.372G>A (p.Gly124=)
|
|
|
NM_000289.6(PFKM):c.417C>A (p.Leu139=)
|
|
|
NM_000289.6(PFKM):c.427+17A>T
|
|
|
NM_000289.6(PFKM):c.427+20A>G
|
|
|
NM_000289.6(PFKM):c.427+9G>A
|
|
|
NM_000289.6(PFKM):c.428-10T>C
|
rs2135891586
|
|
NM_000289.6(PFKM):c.428-20G>C
|
|
|
NM_000289.6(PFKM):c.428-5G>T
|
|
|
NM_000289.6(PFKM):c.428-6T>C
|
rs2135891715
|
|
NM_000289.6(PFKM):c.428-7T>C
|
|
|
NM_000289.6(PFKM):c.428-9C>T
|
|
|
NM_000289.6(PFKM):c.438A>G (p.Thr146=)
|
|
|
NM_000289.6(PFKM):c.438A>T (p.Thr146=)
|
rs2135892064
|
|
NM_000289.6(PFKM):c.453G>C (p.Thr151=)
|
rs144370737
|
|
NM_000289.6(PFKM):c.489G>T (p.Gly163=)
|
|
|
NM_000289.6(PFKM):c.492A>C (p.Ser164=)
|
|
|
NM_000289.6(PFKM):c.507C>T (p.Phe169=)
|
rs777395109
|
|
NM_000289.6(PFKM):c.531C>A (p.Gly177=)
|
|
|
NM_000289.6(PFKM):c.534T>C (p.Thr178=)
|
rs146157053
|
|
NM_000289.6(PFKM):c.543C>T (p.Ala181=)
|
rs1370905542
|
|
NM_000289.6(PFKM):c.549T>C (p.His183=)
|
|
|
NM_000289.6(PFKM):c.552G>T (p.Arg184=)
|
rs976955357
|
|
NM_000289.6(PFKM):c.564T>C (p.Ile188=)
|
rs1949732821
|
|
NM_000289.6(PFKM):c.573C>T (p.Ala191=)
|
rs2135894032
|
|
NM_000289.6(PFKM):c.582C>T (p.Thr194=)
|
|
|
NM_000289.6(PFKM):c.593+10C>G
|
rs1949737425
|
|
NM_000289.6(PFKM):c.593+12T>A
|
|
|
NM_000289.6(PFKM):c.593+15G>A
|
|
|
NM_000289.6(PFKM):c.593+18G>A
|
|
|
NM_000289.6(PFKM):c.593+18G>C
|
|
|
NM_000289.6(PFKM):c.593+8G>A
|
rs2135894357
|
|
NM_000289.6(PFKM):c.594-11A>G
|
|
|
NM_000289.6(PFKM):c.594-12T>C
|
|
|
NM_000289.6(PFKM):c.594-12dup
|
|
|
NM_000289.6(PFKM):c.594-13C>T
|
|
|
NM_000289.6(PFKM):c.594-14T>A
|
|
|
NM_000289.6(PFKM):c.594-16T>C
|
|
|
NM_000289.6(PFKM):c.594-17A>C
|
|
|
NM_000289.6(PFKM):c.594-17_594-16del
|
|
|
NM_000289.6(PFKM):c.594-18T>C
|
|
|
NM_000289.6(PFKM):c.594-19A>G
|
|
|
NM_000289.6(PFKM):c.594-20C>T
|
|
|
NM_000289.6(PFKM):c.594-4G>A
|
rs774807994
|
|
NM_000289.6(PFKM):c.594-5T>C
|
|
|
NM_000289.6(PFKM):c.594-7C>T
|
rs1458751002
|
|
NM_000289.6(PFKM):c.601A>C (p.Arg201=)
|
|
|
NM_000289.6(PFKM):c.606A>G (p.Thr202=)
|
rs2135907037
|
|
NM_000289.6(PFKM):c.627C>A (p.Gly209=)
|
rs930544072
|
|
NM_000289.6(PFKM):c.627C>G (p.Gly209=)
|
rs930544072
|
|
NM_000289.6(PFKM):c.638+12A>C
|
|
|
NM_000289.6(PFKM):c.638+18A>C
|
|
|
NM_000289.6(PFKM):c.638+18A>G
|
|
|
NM_000289.6(PFKM):c.638+7T>A
|
|
|
NM_000289.6(PFKM):c.639-10C>G
|
rs2135915213
|
|
NM_000289.6(PFKM):c.639-17T>C
|
|
|
NM_000289.6(PFKM):c.639-7A>T
|
|
|
NM_000289.6(PFKM):c.639-8C>T
|
|
|
NM_000289.6(PFKM):c.657C>T (p.Thr219=)
|
|
|
NM_000289.6(PFKM):c.660T>C (p.Ser220=)
|
|
|
NM_000289.6(PFKM):c.666C>T (p.Ser222=)
|
rs1249664880
|
|
NM_000289.6(PFKM):c.687T>C (p.Phe229=)
|
rs2135915804
|
|
NM_000289.6(PFKM):c.702A>C (p.Pro234=)
|
rs138022863
|
|
NM_000289.6(PFKM):c.702A>G (p.Pro234=)
|
rs138022863
|
|
NM_000289.6(PFKM):c.708T>C (p.Asp236=)
|
|
|
NM_000289.6(PFKM):c.720G>A (p.Glu240=)
|
|
|
NM_000289.6(PFKM):c.732T>C (p.Cys244=)
|
rs1406800853
|
|
NM_000289.6(PFKM):c.735C>T (p.Arg245=)
|
rs2135916916
|
|
NM_000289.6(PFKM):c.747+10C>G
|
|
|
NM_000289.6(PFKM):c.747+19_747+24del
|
|
|
NM_000289.6(PFKM):c.747+7_747+12del
|
|
|
NM_000289.6(PFKM):c.747+8C>T
|
|
|
NM_000289.6(PFKM):c.747+9A>G
|
rs2135917272
|
|
NM_000289.6(PFKM):c.748-18C>T
|
|
|
NM_000289.6(PFKM):c.748-19A>G
|
|
|
NM_000289.6(PFKM):c.748-4C>T
|
rs2135919001
|
|
NM_000289.6(PFKM):c.748-6A>G
|
rs2135918960
|
|
NM_000289.6(PFKM):c.765T>G (p.Ser255=)
|
|
|
NM_000289.6(PFKM):c.768T>C (p.Arg256=)
|
|
|
NM_000289.6(PFKM):c.774C>T (p.Asn258=)
|
rs894740706
|
|
NM_000289.6(PFKM):c.777C>T (p.Ile259=)
|
rs2135919616
|
|
NM_000289.6(PFKM):c.783T>A (p.Ile261=)
|
|
|
NM_000289.6(PFKM):c.783T>C (p.Ile261=)
|
|
|
NM_000289.6(PFKM):c.786G>A (p.Val262=)
|
|
|
NM_000289.6(PFKM):c.789T>C (p.Ala263=)
|
|
|
NM_000289.6(PFKM):c.819A>G (p.Pro273=)
|
|
|
NM_000289.6(PFKM):c.843+16G>A
|
|
|
NM_000289.6(PFKM):c.843+20G>A
|
|
|
NM_000289.6(PFKM):c.844-11G>T
|
|
|
NM_000289.6(PFKM):c.844-6C>T
|
rs769686642
|
|
NM_000289.6(PFKM):c.85+11G>C
|
|
|
NM_000289.6(PFKM):c.85+13G>A
|
|
|
NM_000289.6(PFKM):c.85+16del
|
|
|
NM_000289.6(PFKM):c.85+8G>T
|
rs772038099
|
|
NM_000289.6(PFKM):c.85+9G>A
|
rs777960882
|
|
NM_000289.6(PFKM):c.85+9del
|
|
|
NM_000289.6(PFKM):c.852T>G (p.Val284=)
|
|
|
NM_000289.6(PFKM):c.859C>T (p.Leu287=)
|
rs925038213
|
|
NM_000289.6(PFKM):c.86-14G>T
|
|
|
NM_000289.6(PFKM):c.86-5T>C
|
|
|
NM_000289.6(PFKM):c.86-8C>T
|
|
|
NM_000289.6(PFKM):c.867T>C (p.Tyr289=)
|
|
|
NM_000289.6(PFKM):c.870C>T (p.Asp290=)
|
rs2135924488
|
|
NM_000289.6(PFKM):c.873C>A (p.Thr291=)
|
|
|
NM_000289.6(PFKM):c.879T>C (p.Val293=)
|
|
|
NM_000289.6(PFKM):c.886T>C (p.Leu296=)
|
|
|
NM_000289.6(PFKM):c.891G>T (p.Gly297=)
|
rs2135924830
|
|
NM_000289.6(PFKM):c.903G>A (p.Arg301=)
|
rs2135924903
|
|
NM_000289.6(PFKM):c.921C>T (p.Ala307=)
|
rs2135925089
|
|
NM_000289.6(PFKM):c.936+10T>C
|
rs2135925401
|
|
NM_000289.6(PFKM):c.936+10_936+28del
|
|
|
NM_000289.6(PFKM):c.936+12G>C
|
|
|
NM_000289.6(PFKM):c.936+20G>A
|
|
|
NM_000289.6(PFKM):c.936+9C>T
|
|
|
NM_000289.6(PFKM):c.937-13T>C
|
|
|
NM_000289.6(PFKM):c.937-15T>C
|
|
|
NM_000289.6(PFKM):c.937-18T>A
|
|
|
NM_000289.6(PFKM):c.937-19G>A
|
|
|
NM_000289.6(PFKM):c.937-4G>A
|
rs1175020971
|
|
NM_000289.6(PFKM):c.937-6C>T
|
rs1245827075
|
|
NM_000289.6(PFKM):c.937-8T>A
|
|
|
NM_000289.6(PFKM):c.937-8T>C
|
rs2135956395
|
|
NM_000289.6(PFKM):c.93T>C (p.Asn31=)
|
rs2135841860
|
|
NM_000289.6(PFKM):c.942C>T (p.Ser314=)
|
|
|
NM_000289.6(PFKM):c.943A>C (p.Arg315=)
|
|
|
NM_000289.6(PFKM):c.945G>A (p.Arg315=)
|
|
|
NM_000289.6(PFKM):c.954G>A (p.Val318=)
|
|
|
NM_000289.6(PFKM):c.957A>G (p.Glu319=)
|
|
|
NM_000289.6(PFKM):c.972T>A (p.Leu324=)
|
|
|
NM_000289.6(PFKM):c.987A>G (p.Pro329=)
|
rs932393961
|
|
NM_000289.6(PFKM):c.996A>G (p.Pro332=)
|
|
|
NM_000289.6(PFKM):c.9T>C (p.His3=)
|
|
|
NM_000290.4(PGAM2):c.15C>T (p.Arg5=)
|
|
|
NM_000290.4(PGAM2):c.183G>A (p.Lys61=)
|
|
|
NM_000290.4(PGAM2):c.201C>T (p.Leu67=)
|
|
|
NM_000290.4(PGAM2):c.222G>A (p.Thr74=)
|
|
|
NM_000290.4(PGAM2):c.300G>A (p.Lys100=)
|
|
|
NM_000290.4(PGAM2):c.309G>A (p.Thr103=)
|
|
|
NM_000290.4(PGAM2):c.321C>T (p.His107=)
|
|
|
NM_000290.4(PGAM2):c.330G>A (p.Glu110=)
|
|
|
NM_000290.4(PGAM2):c.33C>T (p.His11=)
|
|
|
NM_000290.4(PGAM2):c.342C>T (p.Ile114=)
|
|
|
NM_000290.4(PGAM2):c.369G>A (p.Pro123=)
|
|
|
NM_000290.4(PGAM2):c.372C>A (p.Pro124=)
|
|
|
NM_000290.4(PGAM2):c.393C>T (p.Pro131=)
|
|
|
NM_000290.4(PGAM2):c.414+9C>T
|
|
|
NM_000290.4(PGAM2):c.415-12T>G
|
|
|
NM_000290.4(PGAM2):c.415-4C>T
|
|
|
NM_000290.4(PGAM2):c.415-5C>T
|
rs2128796345
|
|
NM_000290.4(PGAM2):c.441C>T (p.Pro147=)
|
|
|
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
|
rs199869174
|
|
NM_000290.4(PGAM2):c.489C>T (p.Ala163=)
|
rs1201379677
|
|
NM_000290.4(PGAM2):c.504C>T (p.Asn168=)
|
|
|
NM_000290.4(PGAM2):c.511A>G (p.Ile171Val)
|
rs372452057
|
|
NM_000290.4(PGAM2):c.558C>T (p.His186=)
|
|
|
NM_000290.4(PGAM2):c.595+17G>A
|
|
|
NM_000290.4(PGAM2):c.596-17T>C
|
|
|
NM_000290.4(PGAM2):c.596-8C>T
|
|
|
NM_000290.4(PGAM2):c.63T>C (p.Arg21=)
|
|
|
NM_000290.4(PGAM2):c.684G>A (p.Lys228=)
|
|
|
NM_000290.4(PGAM2):c.714G>A (p.Thr238=)
|
|
|
NM_000290.4(PGAM2):c.720G>C (p.Arg240=)
|
|
|
NM_000290.4(PGAM2):c.81T>C (p.Asp27=)
|
|
|
NM_000291.4(PGK1):c.1152C>T (p.Asn384=)
|
|
|
NM_000291.4(PGK1):c.417+13A>T
|
|
|
NM_000291.4(PGK1):c.937-17dup
|
rs782576397
|
|
NM_000298.6(PKLR):c.375+10G>T
|
rs8177971
|
|
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)
|
rs766321878
|
|
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.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_000365.6(TPI1):c.457+7C>G
|
|
|
NM_000458.4(HNF1B):c.*37G>A
|
rs1555818071
|
|
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.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.999C>T (p.Gly333=)
|
|
|
NM_000458.4(HNF1B):c.9C>G (p.Ser3=)
|
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
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.152G>A (p.Gly51Asp)
|
rs776710848
|
|
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.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.918C>T (p.Gly306=)
|
|
|
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val)
|
rs369764257
|
|
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=)
|
|
|
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)
|
|
|
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)
|
|
|
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)
|
|
|
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)
|
|
|
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)
|
|
|
NM_001243177.4(ALDOA):c.1161+9A>T
|
|
|
NM_001243177.4(ALDOA):c.1161+9_1161+19dup
|
|
|
NM_001243177.4(ALDOA):c.1162-11T>C
|
|
|
NM_001243177.4(ALDOA):c.1162-14C>A
|
|
|
NM_001243177.4(ALDOA):c.1162-14C>T
|
|
|
NM_001243177.4(ALDOA):c.1162-16C>T
|
|
|
NM_001243177.4(ALDOA):c.1162-17C>T
|
|
|
NM_001243177.4(ALDOA):c.1162-18A>T
|
|
|
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)
|
|
|
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)
|
|
|
NM_001243177.4(ALDOA):c.1248C>T (p.His416=)
|
|
|
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)
|
|
|
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)
|
|
|
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)
|
|
|
NM_001243177.4(ALDOA):c.275-11G>C
|
|
|
NM_001243177.4(ALDOA):c.275-15A>G
|
|
|
NM_001243177.4(ALDOA):c.275-3del
|
|
|
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=)
|
|
|
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)
|
|
|
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)
|
|
|
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)
|
|
|
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)
|
|
|
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)
|
|
|
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)
|
|
|
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=)
|
|
|
NM_001243177.4(ALDOA):c.486+10G>A
|
|
|
NM_001243177.4(ALDOA):c.486+16C>T
|
|
|
NM_001243177.4(ALDOA):c.486+17C>T
|
|
|
NM_001243177.4(ALDOA):c.486+18G>A
|
|
|
NM_001243177.4(ALDOA):c.486+19G>A
|
|
|
NM_001243177.4(ALDOA):c.486+9A>C
|
|
|
NM_001243177.4(ALDOA):c.487-14C>T
|
|
|
NM_001243177.4(ALDOA):c.487-19G>A
|
|
|
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=)
|
|
|
NM_001243177.4(ALDOA):c.541+8C>T
|
|
|
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=)
|
|
|
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)
|
|
|
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)
|
|
|
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)
|
|
|
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)
|
|
|
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=)
|
|
|
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=)
|
rs1596813728
|
|
NM_001243177.4(ALDOA):c.702+12G>A
|
|
|
NM_001243177.4(ALDOA):c.702+17T>C
|
|
|
NM_001243177.4(ALDOA):c.702+20A>G
|
|
|
NM_001243177.4(ALDOA):c.702+7C>T
|
|
|
NM_001243177.4(ALDOA):c.702+8T>C
|
|
|
NM_001243177.4(ALDOA):c.703-10C>T
|
|
|
NM_001243177.4(ALDOA):c.703-12C>T
|
|
|
NM_001243177.4(ALDOA):c.703-7C>T
|
|
|
NM_001243177.4(ALDOA):c.703-9G>A
|
|
|
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)
|
|
|
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)
|
|
|
NM_001243177.4(ALDOA):c.786+11A>G
|
|
|
NM_001243177.4(ALDOA):c.787-12G>C
|
|
|
NM_001243177.4(ALDOA):c.787-17C>T
|
|
|
NM_001243177.4(ALDOA):c.787-4C>T
|
|
|
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=)
|
|
|
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
|
|
|
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=)
|
|
|
NM_001243177.4(ALDOA):c.900T>C (p.His300=)
|
|
|
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)
|
|
|
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)
|
|
|
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
|
|
|
NM_001243177.4(ALDOA):c.961+15C>T
|
|
|
NM_001243177.4(ALDOA):c.962-7T>G
|
|
|
NM_001243177.4(ALDOA):c.962-8C>T
|
|
|
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
|
|
|
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
|
|
|
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.598C>A (p.Arg200Ser)
|
rs3824004
|
|
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.850C>G (p.Arg284Gly)
|
rs369868891
|
|
NM_001807.6(CEL):c.99G>C (p.Val33=)
|
rs199971842
|
|
NM_002300.8(LDHB):c.130-3_130-2del
|
rs200371155
|
|
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_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_005566.3(LDHA):c.-152dup
|
rs371317664
|
|
NM_005566.4(LDHA):c.126+17C>T
|
|
|
NM_005566.4(LDHA):c.138T>C (p.Asp46=)
|
rs2134021527
|
|
NM_005566.4(LDHA):c.172T>C (p.Leu58=)
|
|
|
NM_005566.4(LDHA):c.231T>C (p.Ile77=)
|
|
|
NM_005566.4(LDHA):c.245-11C>T
|
|
|
NM_005566.4(LDHA):c.273G>C (p.Leu91=)
|
|
|
NM_005566.4(LDHA):c.300G>A (p.Gln100=)
|
|
|
NM_005566.4(LDHA):c.315C>T (p.Ser105=)
|
|
|
NM_005566.4(LDHA):c.339C>T (p.Asn113=)
|
|
|
NM_005566.4(LDHA):c.419-16T>G
|
|
|
NM_005566.4(LDHA):c.543C>T (p.His181=)
|
|
|
NM_005566.4(LDHA):c.57C>G (p.Pro19=)
|
|
|
NM_005566.4(LDHA):c.592+17T>G
|
|
|
NM_005566.4(LDHA):c.593-11A>G
|
|
|
NM_005566.4(LDHA):c.593-20G>A
|
|
|
NM_005566.4(LDHA):c.593-7C>A
|
rs1866576661
|
|
NM_005566.4(LDHA):c.710+16A>T
|
|
|
NM_005566.4(LDHA):c.710+19T>C
|
rs1430822822
|
|
NM_005566.4(LDHA):c.711-19A>G
|
|
|
NM_005566.4(LDHA):c.732C>T (p.Leu244=)
|
|
|
NM_005566.4(LDHA):c.762C>G (p.Leu254=)
|
|
|
NM_005566.4(LDHA):c.768A>C (p.Val256=)
|
|
|
NM_005566.4(LDHA):c.810G>A (p.Val270=)
|
|
|
NM_005566.4(LDHA):c.834+20C>T
|
|
|
NM_005566.4(LDHA):c.835-14C>T
|
|
|
NM_005566.4(LDHA):c.835-14_835-11del
|
|
|
NM_005566.4(LDHA):c.835-8A>C
|
|
|
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
|
|
|
NM_005566.4(LDHA):c.861C>T (p.Val287=)
|
|
|
NM_005566.4(LDHA):c.882T>C (p.Ile294=)
|
|
|
NM_005566.4(LDHA):c.933G>A (p.Glu311=)
|
|
|
NM_005566.4(LDHA):c.942C>G (p.Ala314=)
|
|
|
NM_005566.4(LDHA):c.999_*1del (p.Phe332_Ter333insTer)
|
|
|
NM_012096.3(APPL1):c.374-9C>T
|
|
|
NM_053013.4(ENO3):c.1047G>C (p.Ser349=)
|
|
|
NM_053013.4(ENO3):c.105G>A (p.Val35=)
|
|
|
NM_053013.4(ENO3):c.1067+16C>T
|
|
|
NM_053013.4(ENO3):c.108C>T (p.Pro36=)
|
|
|
NM_053013.4(ENO3):c.1176+10G>A
|
|
|
NM_053013.4(ENO3):c.1176+16C>T
|
|
|
NM_053013.4(ENO3):c.1177-16C>A
|
|
|
NM_053013.4(ENO3):c.1177-16C>T
|
rs372893427
|
|
NM_053013.4(ENO3):c.1177-7T>G
|
rs1567674013
|
|
NM_053013.4(ENO3):c.1185T>C (p.Thr395=)
|
|
|
NM_053013.4(ENO3):c.1203G>A (p.Ser401=)
|
|
|
NM_053013.4(ENO3):c.1215C>T (p.Ala405=)
|
|
|
NM_053013.4(ENO3):c.1235+19G>A
|
|
|
NM_053013.4(ENO3):c.1236-14T>C
|
|
|
NM_053013.4(ENO3):c.1239C>T (p.Ile413=)
|
|
|
NM_053013.4(ENO3):c.1272T>C (p.Ala424=)
|
|
|
NM_053013.4(ENO3):c.1272T>G (p.Ala424=)
|
|
|
NM_053013.4(ENO3):c.132T>C (p.Tyr44=)
|
rs1971587909
|
|
NM_053013.4(ENO3):c.135G>A (p.Glu45=)
|
|
|
NM_053013.4(ENO3):c.153C>T (p.Asp51=)
|
|
|
NM_053013.4(ENO3):c.181+16C>T
|
|
|
NM_053013.4(ENO3):c.181+17G>A
|
|
|
NM_053013.4(ENO3):c.181+17G>C
|
|
|
NM_053013.4(ENO3):c.182-18A>G
|
|
|
NM_053013.4(ENO3):c.182-7T>C
|
|
|
NM_053013.4(ENO3):c.186C>T (p.Val62=)
|
|
|
NM_053013.4(ENO3):c.228T>C (p.Ala76=)
|
|
|
NM_053013.4(ENO3):c.228T>G (p.Ala76=)
|
|
|
NM_053013.4(ENO3):c.240+16C>T
|
|
|
NM_053013.4(ENO3):c.240+18C>T
|
|
|
NM_053013.4(ENO3):c.240+20C>G
|
|
|
NM_053013.4(ENO3):c.240+9G>A
|
|
|
NM_053013.4(ENO3):c.255G>A (p.Val85=)
|
|
|
NM_053013.4(ENO3):c.300C>T (p.Thr100=)
|
|
|
NM_053013.4(ENO3):c.310+11G>C
|
|
|
NM_053013.4(ENO3):c.310+18G>A
|
|
|
NM_053013.4(ENO3):c.310+7G>A
|
|
|
NM_053013.4(ENO3):c.311-15C>T
|
|
|
NM_053013.4(ENO3):c.339C>T (p.Gly113=)
|
|
|
NM_053013.4(ENO3):c.34T>C (p.Leu12=)
|
|
|
NM_053013.4(ENO3):c.351C>T (p.Ala117=)
|
|
|
NM_053013.4(ENO3):c.354G>C (p.Val118=)
|
|
|
NM_053013.4(ENO3):c.378G>A (p.Lys126=)
|
|
|
NM_053013.4(ENO3):c.381G>T (p.Gly127=)
|
|
|
NM_053013.4(ENO3):c.384C>T (p.Val128=)
|
|
|
NM_053013.4(ENO3):c.39C>T (p.Asp13=)
|
|
|
NM_053013.4(ENO3):c.411C>T (p.Leu137=)
|
|
|
NM_053013.4(ENO3):c.444+13A>G
|
|
|
NM_053013.4(ENO3):c.444+14C>T
|
|
|
NM_053013.4(ENO3):c.444+7G>A
|
|
|
NM_053013.4(ENO3):c.445-11C>T
|
|
|
NM_053013.4(ENO3):c.445-13C>T
|
|
|
NM_053013.4(ENO3):c.445-15C>T
|
|
|
NM_053013.4(ENO3):c.445-18dup
|
|
|
NM_053013.4(ENO3):c.462C>T (p.Asn154=)
|
|
|
NM_053013.4(ENO3):c.468C>T (p.Gly156=)
|
|
|
NM_053013.4(ENO3):c.501G>A (p.Glu167=)
|
|
|
NM_053013.4(ENO3):c.522A>G (p.Gly174=)
|
|
|
NM_053013.4(ENO3):c.531C>T (p.Ser177=)
|
|
|
NM_053013.4(ENO3):c.540A>G (p.Glu180=)
|
|
|
NM_053013.4(ENO3):c.564C>G (p.Val188=)
|
|
|
NM_053013.4(ENO3):c.570C>T (p.His190=)
|
|
|
NM_053013.4(ENO3):c.615C>T (p.Thr205=)
|
|
|
NM_053013.4(ENO3):c.618T>C (p.Asn206=)
|
|
|
NM_053013.4(ENO3):c.639C>T (p.Phe213=)
|
|
|
NM_053013.4(ENO3):c.651C>T (p.Ile217=)
|
|
|
NM_053013.4(ENO3):c.657G>A (p.Glu219=)
|
|
|
NM_053013.4(ENO3):c.667+11del
|
|
|
NM_053013.4(ENO3):c.667+17C>G
|
|
|
NM_053013.4(ENO3):c.668-6C>T
|
|
|
NM_053013.4(ENO3):c.675G>A (p.Glu225=)
|
|
|
NM_053013.4(ENO3):c.687G>A (p.Thr229=)
|
|
|
NM_053013.4(ENO3):c.687G>C (p.Thr229=)
|
|
|
NM_053013.4(ENO3):c.699G>T (p.Ala233=)
|
|
|
NM_053013.4(ENO3):c.6C>T (p.Ala2=)
|
|
|
NM_053013.4(ENO3):c.714C>T (p.Asp238=)
|
|
|
NM_053013.4(ENO3):c.726C>A (p.Ile242=)
|
|
|
NM_053013.4(ENO3):c.726C>T (p.Ile242=)
|
|
|
NM_053013.4(ENO3):c.738G>A (p.Val246=)
|
rs1266761542
|
|
NM_053013.4(ENO3):c.744A>G (p.Ala248=)
|
|
|
NM_053013.4(ENO3):c.750G>A (p.Glu250=)
|
|
|
NM_053013.4(ENO3):c.771C>T (p.Tyr257=)
|
|
|
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup)
|
rs548538086
|
|
NM_053013.4(ENO3):c.789G>C (p.Ser263=)
|
rs75748087
|
|
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup)
|
rs1567672833
|
|
NM_053013.4(ENO3):c.78G>A (p.Thr26=)
|
rs758704680
|
|
NM_053013.4(ENO3):c.801C>T (p.Pro267=)
|
|
|
NM_053013.4(ENO3):c.85+14C>T
|
|
|
NM_053013.4(ENO3):c.85+15A>T
|
|
|
NM_053013.4(ENO3):c.86-12C>T
|
|
|
NM_053013.4(ENO3):c.86-18C>T
|
|
|
NM_053013.4(ENO3):c.86-3del
|
rs151153333
|
|
NM_053013.4(ENO3):c.865+11C>T
|
|
|
NM_053013.4(ENO3):c.865+12G>A
|
|
|
NM_053013.4(ENO3):c.865+7C>T
|
|
|
NM_053013.4(ENO3):c.865+8G>A
|
|
|
NM_053013.4(ENO3):c.866-13C>T
|
|
|
NM_053013.4(ENO3):c.866-15T>C
|
|
|
NM_053013.4(ENO3):c.866-4C>A
|
|
|
NM_053013.4(ENO3):c.866-8C>A
|
|
|
NM_053013.4(ENO3):c.87C>A (p.Gly29=)
|
rs771319383
|
|
NM_053013.4(ENO3):c.87C>T (p.Gly29=)
|
|
|
NM_053013.4(ENO3):c.915C>G (p.Thr305=)
|
|
|
NM_053013.4(ENO3):c.915C>T (p.Thr305=)
|
rs565982583
|
|
NM_053013.4(ENO3):c.969C>T (p.Thr323=)
|
|
|
NM_053013.4(ENO3):c.99A>T (p.Ala33=)
|
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510
|
|
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1]
|
rs3834658
|
|
NM_175914.5(HNF4A):c.*217C>T
|
rs1019701119
|
|
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.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
|
|