ClinVar Miner

List of variants reported as likely benign for disorder of glycolysis

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1466
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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_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

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