NM_002591.4(PCK1):c.*361G>A
|
rs878859807
|
0.28332
|
NM_000891.3(KCNJ2):c.*2753T>C
|
rs1391769255
|
0.03695
|
NM_000891.3(KCNJ2):c.*2759T>C
|
rs906331617
|
0.03578
|
NM_138413.4(HOGA1):c.*360C>T
|
rs114372258
|
0.03441
|
NM_000046.4(ARSB):c.-265G>A
|
rs72764913
|
0.02482
|
NM_000891.3(KCNJ2):c.*2754T>C
|
rs9915769
|
0.02225
|
NM_006516.2(SLC2A1):c.-424C>G
|
rs867977523
|
0.01606
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
NM_002299.4(LCT):c.*325G>C
|
rs62170085
|
0.01267
|
NM_000507.4(FBP1):c.*121T>G
|
rs2274689
|
0.01225
|
NM_000525.4(KCNJ11):c.*376C>T
|
rs5208
|
0.01164
|
NM_000027.4(AGA):c.622+13T>C
|
rs75260482
|
0.01039
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
NM_000293.3(PHKB):c.*1001G>A
|
rs868394484
|
0.00997
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
NM_000642.3(AGL):c.*2058G>A
|
rs12117747
|
0.00930
|
NM_000027.4(AGA):c.1023A>G (p.Glu341=)
|
rs113407270
|
0.00929
|
NM_000404.4(GLB1):c.*319G>A
|
rs139730198
|
0.00851
|
NM_000525.4(KCNJ11):c.*76G>A
|
rs193076739
|
0.00819
|
NM_002299.4(LCT):c.4347T>C (p.Phe1449=)
|
rs17699796
|
0.00774
|
NM_000507.4(FBP1):c.-154C>G
|
rs28382860
|
0.00743
|
NM_175914.5(HNF4A):c.*3086C>T
|
rs551080524
|
0.00706
|
NM_000512.5(GALNS):c.*236C>T
|
rs189375208
|
0.00701
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
NM_000027.4(AGA):c.*220G>C
|
rs12502301
|
0.00696
|
NM_000525.4(KCNJ11):c.*766G>A
|
rs193101892
|
0.00683
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_000035.4(ALDOB):c.*268T>C
|
rs142431256
|
0.00648
|
NM_000108.5(DLD):c.*1145A>T
|
rs143750422
|
0.00638
|
NM_020897.3(HCN3):c.*1216A>C
|
rs41264939
|
0.00637
|
NM_000525.4(KCNJ11):c.*92C>T
|
rs5212
|
0.00626
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
NM_153281.2(HYAL1):c.-319T>C
|
rs1429084988
|
0.00618
|
NM_000046.4(ARSB):c.-246C>T
|
rs180784385
|
0.00598
|
NM_000151.4(G6PC1):c.*1454C>T
|
rs148453821
|
0.00598
|
NM_012434.5(SLC17A5):c.*560G>A
|
rs115453489
|
0.00594
|
NM_000525.4(KCNJ11):c.*288G>A
|
rs5209
|
0.00590
|
NM_000525.4(KCNJ11):c.*487A>G
|
rs79457490
|
0.00588
|
NM_003597.5(KLF11):c.-76G>A
|
rs1038766626
|
0.00583
|
NM_000046.5(ARSB):c.*2708G>A
|
rs141667208
|
0.00581
|
NM_002299.4(LCT):c.3006G>A (p.Arg1002=)
|
rs114815229
|
0.00558
|
NM_000046.5(ARSB):c.*1635G>A
|
rs35597782
|
0.00552
|
NM_001041.4(SI):c.123T>C (p.Ile41=)
|
rs146222650
|
0.00551
|
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)
|
rs61742739
|
0.00531
|
NM_000642.3(AGL):c.*2060T>C
|
rs191429370
|
0.00522
|
NM_001041.4(SI):c.1398+12T>C
|
rs115295826
|
0.00514
|
NM_000525.4(KCNJ11):c.*529G>A
|
rs115826080
|
0.00510
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
NM_016203.4(PRKAG2):c.-322T>C
|
rs142348760
|
0.00504
|
NM_016203.4(PRKAG2):c.-40C>T
|
rs148715621
|
0.00503
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
NM_000046.5(ARSB):c.*2408A>G
|
rs13354324
|
0.00491
|
NM_001041.4(SI):c.2923T>C (p.Tyr975His)
|
rs146785675
|
0.00477
|
NM_003619.4(PRSS12):c.*1615C>T
|
rs150249635
|
0.00471
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_001041.4(SI):c.1716-13G>A
|
rs112259253
|
0.00456
|
NM_000027.4(AGA):c.60A>G (p.Leu20=)
|
rs114918706
|
0.00453
|
NM_000151.4(G6PC1):c.*2184T>A
|
rs146025743
|
0.00450
|
NM_021957.4(GYS2):c.*259T>A
|
rs140445396
|
0.00450
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
NM_021957.4(GYS2):c.*458A>T
|
rs76993768
|
0.00403
|
NM_000507.4(FBP1):c.237C>T (p.Asn79=)
|
rs201591116
|
0.00398
|
NM_000340.2(SLC2A2):c.*796T>C
|
rs140738490
|
0.00392
|
NM_000525.4(KCNJ11):c.*1168G>A
|
rs182349583
|
0.00391
|
NM_001041.4(SI):c.1212G>A (p.Ala404=)
|
rs142838612
|
0.00391
|
NM_152419.3(HGSNAT):c.*2068A>G
|
rs141499920
|
0.00389
|
NM_001370658.1(BTD):c.*211G>A
|
rs78601074
|
0.00384
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
NM_002299.4(LCT):c.*10A>C
|
rs200994158
|
0.00375
|
NM_000027.4(AGA):c.*850C>T
|
rs149021855
|
0.00370
|
NM_000027.4(AGA):c.*718G>A
|
rs72988642
|
0.00364
|
NM_152419.3(HGSNAT):c.*2341G>A
|
rs143662681
|
0.00364
|
NM_005327.4(HADH):c.-102G>A
|
rs182097151
|
0.00354
|
NM_144563.3(RPIA):c.*558G>A
|
rs140371867
|
0.00353
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
NM_000046.4(ARSB):c.-239T>A
|
rs115264286
|
0.00346
|
NM_000289.6(PFKM):c.*411G>A
|
rs79507126
|
0.00345
|
NM_175914.5(HNF4A):c.*1127T>C
|
rs757386171
|
0.00337
|
NM_000046.5(ARSB):c.*2013G>A
|
rs113059935
|
0.00334
|
NM_000046.5(ARSB):c.*1146G>A
|
rs141001994
|
0.00333
|
NM_000155.4(GALT):c.*105A>G
|
rs183251779
|
0.00329
|
NM_000525.4(KCNJ11):c.*686A>G
|
rs147282653
|
0.00324
|
NM_138413.4(HOGA1):c.*101C>T
|
rs41290458
|
0.00319
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_002299.4(LCT):c.2763G>A (p.Ala921=)
|
rs116951780
|
0.00313
|
NM_000343.4(SLC5A1):c.*703C>T
|
rs576036983
|
0.00305
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000525.4(KCNJ11):c.*848A>G
|
rs5206
|
0.00291
|
NM_000155.4(GALT):c.510C>A (p.Ile170=)
|
rs61735984
|
0.00290
|
NM_000046.5(ARSB):c.*2707C>T
|
rs183918206
|
0.00285
|
NM_000035.4(ALDOB):c.*1119C>T
|
rs41296051
|
0.00284
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
NM_021957.4(GYS2):c.-240A>G
|
rs548363075
|
0.00281
|
NM_000512.5(GALNS):c.-54G>A
|
rs369448232
|
0.00280
|
NM_000046.5(ARSB):c.*1153C>A
|
rs116753785
|
0.00278
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_001365304.2(LOC112694756):c.*1740C>T
|
rs191226606
|
0.00274
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
NM_001352514.2(HLCS):c.*3159_*3162del
|
rs535525635
|
0.00270
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_000199.5(SGSH):c.*93A>G
|
rs111628992
|
0.00267
|
NM_000108.5(DLD):c.*1422C>T
|
rs568479120
|
0.00265
|
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu)
|
rs150117594
|
0.00264
|
NM_000263.3(NAGLU):c.-144G>A
|
rs538885425
|
0.00263
|
NM_000642.3(AGL):c.*832G>A
|
rs181486858
|
0.00261
|
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)
|
rs138658585
|
0.00259
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000027.4(AGA):c.*8T>C
|
rs112307209
|
0.00255
|
NM_000199.5(SGSH):c.*232T>C
|
rs113462619
|
0.00254
|
NM_000294.3(PHKG2):c.324C>T (p.Asp108=)
|
rs138416154
|
0.00252
|
NM_033159.4(HYAL1):c.*173T>C
|
rs184872974
|
0.00250
|
NM_000046.5(ARSB):c.*2608G>A
|
rs569254528
|
0.00248
|
NM_002294.3(LAMP2):c.*586A>G
|
rs41312757
|
0.00248
|
NM_001041.4(SI):c.2678C>T (p.Ala893Val)
|
rs145893756
|
0.00247
|
NM_152419.3(HGSNAT):c.234+14C>G
|
rs146429523
|
0.00245
|
NM_000152.5(GAA):c.*521A>G
|
rs142506588
|
0.00241
|
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)
|
rs61731628
|
0.00240
|
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val)
|
rs150546732
|
0.00240
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_002076.4(GNS):c.*2735C>T
|
rs143396704
|
0.00233
|
NM_175914.5(HNF4A):c.*1078G>A
|
rs573432571
|
0.00233
|
NM_000199.5(SGSH):c.411G>A (p.Ala137=)
|
rs142557761
|
0.00230
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_001164277.2(SLC37A4):c.-573C>G
|
rs550169691
|
0.00220
|
NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln)
|
rs41302559
|
0.00218
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
NM_003051.4(SLC16A1):c.-92G>T
|
rs144301005
|
0.00214
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_000108.5(DLD):c.*1640A>G
|
rs148148357
|
0.00209
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_001352514.2(HLCS):c.*590A>G
|
rs148195019
|
0.00207
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_005908.4(MANBA):c.2191G>A (p.Val731Met)
|
rs150554352
|
0.00205
|
NM_002300.8(LDHB):c.523A>G (p.Met175Val)
|
rs7966339
|
0.00203
|
NM_000263.3(NAGLU):c.-81C>T
|
rs189515084
|
0.00202
|
NM_175914.5(HNF4A):c.*1293C>T
|
rs182919150
|
0.00201
|
NM_198586.3(NHLRC1):c.*332G>T
|
rs140122442
|
0.00201
|
NM_001041.4(SI):c.2395A>G (p.Ile799Val)
|
rs150246328
|
0.00198
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_000642.2(AGL):c.-208C>T
|
rs563389574
|
0.00192
|
NM_175914.5(HNF4A):c.*76G>A
|
rs11574743
|
0.00191
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
NM_003051.4(SLC16A1):c.*629C>T
|
rs540946001
|
0.00189
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
NM_000525.4(KCNJ11):c.*1197G>A
|
rs191682072
|
0.00187
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
NM_000046.5(ARSB):c.*994C>A
|
rs190632756
|
0.00186
|
NM_006488.3(KHK):c.*214G>A
|
rs183949231
|
0.00184
|
NM_017755.6(NSUN2):c.-13G>C
|
rs558458633
|
0.00181
|
NM_021957.4(GYS2):c.*631del
|
rs576845625
|
0.00180
|
NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg)
|
rs148838160
|
0.00178
|
NM_002299.4(LCT):c.4576C>T (p.Leu1526=)
|
rs140074771
|
0.00178
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_175914.5(HNF4A):c.*2006T>C
|
rs150112206
|
0.00175
|
NM_001352514.2(HLCS):c.*1856T>C
|
rs151042283
|
0.00171
|
NM_001008216.2(GALE):c.529-12C>T
|
rs369293480
|
0.00169
|
NM_002299.4(LCT):c.2457C>T (p.His819=)
|
rs149425549
|
0.00168
|
NM_001041.4(SI):c.3234G>A (p.Arg1078=)
|
rs56082035
|
0.00167
|
NM_144563.3(RPIA):c.*256C>T
|
rs574766296
|
0.00167
|
NM_000298.6(PKLR):c.*14C>T
|
rs8177994
|
0.00166
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
NM_001041.4(SI):c.1111G>A (p.Val371Met)
|
rs138434001
|
0.00165
|
NM_002103.5(GYS1):c.*301G>A
|
rs147489255
|
0.00165
|
NM_012434.5(SLC17A5):c.*1565C>T
|
rs543558815
|
0.00164
|
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)
|
rs145789213
|
0.00163
|
NM_002591.4(PCK1):c.141C>T (p.Asp47=)
|
rs45559338
|
0.00163
|
NM_000289.5(PFKM):c.-177G>C
|
rs78512814
|
0.00162
|
NM_012434.5(SLC17A5):c.*1492C>G
|
rs148144074
|
0.00162
|
NM_153281.2(HYAL1):c.-320_-319del
|
rs782640837
|
0.00162
|
NM_000152.5(GAA):c.-312C>T
|
rs574326920
|
0.00161
|
NM_175914.5(HNF4A):c.*1783G>T
|
rs564110189
|
0.00161
|
NM_000199.5(SGSH):c.*657C>T
|
rs564023302
|
0.00160
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)
|
rs56029513
|
0.00158
|
NM_000891.3(KCNJ2):c.*2483G>A
|
rs559751598
|
0.00158
|
NM_080749.4(NEURL2):c.-43A>G
|
rs554749359
|
0.00158
|
NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp)
|
rs149525864
|
0.00156
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
NM_005566.4(LDHA):c.-64T>C
|
rs200916427
|
0.00155
|
NM_006488.3(KHK):c.*596C>T
|
rs547856736
|
0.00155
|
NM_000458.4(HNF1B):c.*625C>T
|
rs188957129
|
0.00154
|
NM_006488.3(KHK):c.*469G>A
|
rs187387157
|
0.00154
|
NM_000152.5(GAA):c.-116C>T
|
rs190152638
|
0.00153
|
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)
|
rs55751949
|
0.00153
|
NM_000404.4(GLB1):c.*423A>G
|
rs79603348
|
0.00153
|
NM_005566.4(LDHA):c.*604A>T
|
rs148774730
|
0.00153
|
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)
|
rs145704211
|
0.00151
|
NM_002299.4(LCT):c.30T>C (p.Ile10=)
|
rs150024239
|
0.00150
|
NM_003477.3(PDHX):c.*331G>C
|
rs555691861
|
0.00150
|
NM_006488.3(KHK):c.790G>A (p.Val264Ile)
|
rs114353144
|
0.00150
|
NM_001041.4(SI):c.4951G>A (p.Val1651Ile)
|
rs139876383
|
0.00149
|
NM_012434.5(SLC17A5):c.*1155T>A
|
rs921762676
|
0.00149
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
NM_003619.4(PRSS12):c.*574A>G
|
rs191638317
|
0.00147
|
NM_175914.5(HNF4A):c.*446G>A
|
rs548013860
|
0.00147
|
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr)
|
rs148684857
|
0.00146
|
NM_152419.3(HGSNAT):c.*3176G>A
|
rs138613130
|
0.00146
|
NM_000404.4(GLB1):c.1032T>C (p.Thr344=)
|
rs199927127
|
0.00145
|
NM_000046.4(ARSB):c.-331G>A
|
rs538223324
|
0.00144
|
NM_198586.3(NHLRC1):c.*326C>T
|
rs369668171
|
0.00144
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_001352514.2(HLCS):c.*2921A>G
|
rs555149143
|
0.00141
|
NM_001352514.2(HLCS):c.*2243C>T
|
rs554230015
|
0.00140
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
NM_001041.4(SI):c.1043C>T (p.Pro348Leu)
|
rs77546399
|
0.00138
|
NM_000151.4(G6PC1):c.-45G>A
|
rs367816430
|
0.00137
|
NM_002299.4(LCT):c.1113G>A (p.Arg371=)
|
rs148142216
|
0.00135
|
NM_006488.3(KHK):c.820G>A (p.Val274Met)
|
rs138164728
|
0.00135
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
NM_002863.5(PYGL):c.*78G>A
|
rs190588867
|
0.00133
|
NM_016042.4(EXOSC3):c.*555A>C
|
rs188744146
|
0.00133
|
NM_053013.4(ENO3):c.417G>A (p.Gly139=)
|
rs142390642
|
0.00133
|
NM_152419.3(HGSNAT):c.*871C>A
|
rs151315641
|
0.00133
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
NM_003051.4(SLC16A1):c.*948G>A
|
rs543171131
|
0.00129
|
NM_144563.3(RPIA):c.*783A>G
|
rs184672681
|
0.00129
|
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
|
rs149606212
|
0.00128
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
NM_003051.4(SLC16A1):c.*104C>T
|
rs182505461
|
0.00128
|
NM_000365.6(TPI1):c.*219C>T
|
rs376899563
|
0.00127
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_000151.4(G6PC1):c.*120G>A
|
rs150477898
|
0.00126
|
NM_000262.3(NAGA):c.1209C>T (p.Ile403=)
|
rs201582948
|
0.00126
|
NM_000284.4(PDHA1):c.*549A>G
|
rs187525386
|
0.00126
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
NM_000151.4(G6PC1):c.*986A>T
|
rs370935410
|
0.00124
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
NM_001040716.2(PC):c.*89G>A
|
rs186152567
|
0.00123
|
NM_020897.3(HCN3):c.*1042A>G
|
rs559809916
|
0.00122
|
NM_000027.4(AGA):c.675T>C (p.Asn225=)
|
rs138699617
|
0.00121
|
NM_000340.2(SLC2A2):c.*1420T>C
|
rs182503337
|
0.00121
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
NM_000035.4(ALDOB):c.*12C>T
|
rs201867948
|
0.00118
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000181.4(GUSB):c.*94A>G
|
rs536903750
|
0.00118
|
NM_000290.4(PGAM2):c.726C>T (p.Ala242=)
|
rs142209394
|
0.00118
|
NM_001352514.2(HLCS):c.*3162T>C
|
rs552016201
|
0.00118
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_003597.5(KLF11):c.*738A>G
|
rs146942100
|
0.00117
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
NM_003619.4(PRSS12):c.966C>T (p.Gly322=)
|
rs144866250
|
0.00116
|
NM_152419.3(HGSNAT):c.*149G>T
|
rs191719106
|
0.00116
|
NM_000525.4(KCNJ11):c.*862G>T
|
rs547635594
|
0.00115
|
NM_001352514.2(HLCS):c.*2163A>G
|
rs139776215
|
0.00115
|
NM_002500.5(NEUROD1):c.*164_*165del
|
rs574102237
|
0.00115
|
NM_000046.3(ARSB):c.-726C>T
|
rs116419942
|
0.00114
|
NM_000284.4(PDHA1):c.*575T>C
|
rs191995452
|
0.00114
|
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
|
rs76362149
|
0.00114
|
NM_000152.5(GAA):c.*288G>T
|
rs568131293
|
0.00113
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
|
rs201186470
|
0.00113
|
NM_005566.4(LDHA):c.183G>A (p.Glu61=)
|
rs149588992
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000284.4(PDHA1):c.*1297G>A
|
rs778678656
|
0.00112
|
NM_138413.4(HOGA1):c.*68C>T
|
rs551593998
|
0.00112
|
NM_006488.3(KHK):c.507C>T (p.Ser169=)
|
rs148222785
|
0.00111
|
NM_000642.3(AGL):c.*1766G>A
|
rs564167641
|
0.00110
|
NM_001041.4(SI):c.5301G>A (p.Thr1767=)
|
rs150131334
|
0.00110
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_000293.3(PHKB):c.270C>T (p.Cys90=)
|
rs139431568
|
0.00109
|
NM_000343.4(SLC5A1):c.*1744G>A
|
rs376602365
|
0.00109
|
NM_000528.4(MAN2B1):c.1110-8C>T
|
rs201690866
|
0.00109
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
NM_002637.4(PHKA1):c.*553C>T
|
rs782055740
|
0.00108
|
NM_002863.5(PYGL):c.603G>T (p.Val201=)
|
rs138364932
|
0.00108
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
NM_000434.4(NEU1):c.408G>A (p.Gly136=)
|
rs41267074
|
0.00106
|
NM_000642.3(AGL):c.*604A>G
|
rs189939228
|
0.00106
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
NM_002591.4(PCK1):c.*363G>A
|
rs1297980275
|
0.00105
|
NM_000642.3(AGL):c.*1558T>C
|
rs773444393
|
0.00104
|
NM_001360016.2(G6PD):c.*520G>A
|
rs782764609
|
0.00104
|
NM_001352514.2(HLCS):c.*2444C>T
|
rs546201018
|
0.00103
|
NM_006755.1(TALDO1):c.-30C>T
|
rs373293125
|
0.00103
|
NM_175914.5(HNF4A):c.*1013G>A
|
rs767537996
|
0.00103
|
NM_000343.4(SLC5A1):c.*649G>A
|
rs544819758
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_000365.6(TPI1):c.192G>A (p.Ala64=)
|
rs149190846
|
0.00102
|
NM_002591.4(PCK1):c.556G>A (p.Asp186Asn)
|
rs11552146
|
0.00102
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)
|
rs61735983
|
0.00101
|
NM_000162.5(GCK):c.-455A>G
|
rs140894490
|
0.00101
|
NM_001040716.2(PC):c.1513+13del
|
rs755170894
|
0.00099
|
NM_018444.4(PDP1):c.*1649_*1650insG
|
rs886063184
|
0.00099
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_000434.4(NEU1):c.*596G>T
|
rs749671704
|
0.00098
|
NM_000507.3(FBP1):c.-238G>A
|
rs974736435
|
0.00098
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
NM_002294.3(LAMP2):c.*4963del
|
rs754879365
|
0.00097
|
NM_000027.4(AGA):c.*852C>T
|
rs182081300
|
0.00096
|
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
|
rs142599919
|
0.00096
|
NM_003597.5(KLF11):c.*1608T>G
|
rs142746538
|
0.00096
|
NM_000152.5(GAA):c.*443G>A
|
rs147801821
|
0.00093
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
NM_000284.4(PDHA1):c.*349A>G
|
rs1013526559
|
0.00092
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
NM_138413.4(HOGA1):c.*425T>C
|
rs189957405
|
0.00092
|
NM_001352514.2(HLCS):c.331-7170T>A
|
rs181989786
|
0.00091
|
NM_006755.2(TALDO1):c.36G>A (p.Glu12=)
|
rs150420496
|
0.00091
|
NM_002299.4(LCT):c.3848C>T (p.Thr1283Met)
|
rs147755711
|
0.00090
|
NM_000151.4(G6PC1):c.*1039G>T
|
rs549474805
|
0.00089
|
NM_000290.4(PGAM2):c.459C>T (p.Cys153=)
|
rs143809043
|
0.00089
|
NM_000434.4(NEU1):c.432C>T (p.Ser144=)
|
rs114405905
|
0.00089
|
NM_002591.4(PCK1):c.1152G>A (p.Thr384=)
|
rs141878699
|
0.00089
|
NM_005566.4(LDHA):c.*762T>G
|
rs189063205
|
0.00089
|
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)
|
rs140923667
|
0.00088
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
0.00088
|
NM_002294.3(LAMP2):c.*853G>A
|
rs763861761
|
0.00088
|
NM_005908.4(MANBA):c.479G>A (p.Arg160His)
|
rs144917953
|
0.00088
|
NM_000027.4(AGA):c.*457A>G
|
rs3749478
|
0.00087
|
NM_000151.4(G6PC1):c.*1400G>A
|
rs113536060
|
0.00087
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
NM_000293.3(PHKB):c.*2075G>A
|
rs189124531
|
0.00087
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
NM_175914.5(HNF4A):c.*3153C>A
|
rs569302875
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_001041.4(SI):c.*121C>T
|
rs530056606
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_002299.4(LCT):c.2883C>T (p.Ala961=)
|
rs140994860
|
0.00086
|
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu)
|
rs138795531
|
0.00086
|
NM_003051.3(SLC16A1):c.-349G>A
|
rs750771668
|
0.00086
|
NM_006488.3(KHK):c.*259T>G
|
rs766868467
|
0.00086
|
NM_002299.4(LCT):c.4026G>A (p.Thr1342=)
|
rs150640616
|
0.00085
|
NM_005327.7(HADH):c.*377G>A
|
rs148809781
|
0.00084
|
NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
|
rs41282026
|
0.00084
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
NM_000199.5(SGSH):c.*378G>A
|
rs372712517
|
0.00083
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)
|
rs113534264
|
0.00083
|
NM_000528.4(MAN2B1):c.*105C>G
|
rs547349667
|
0.00083
|
NM_002103.5(GYS1):c.*868A>G
|
rs571576339
|
0.00083
|
NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys)
|
rs147495948
|
0.00082
|
NM_003477.3(PDHX):c.579A>G (p.Glu193=)
|
rs61752926
|
0.00082
|
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr)
|
rs143176318
|
0.00082
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn)
|
rs149783130
|
0.00081
|
NM_003619.4(PRSS12):c.2460C>T (p.Ser820=)
|
rs146650218
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_001040716.2(PC):c.2550C>T (p.Cys850=)
|
rs61749179
|
0.00080
|
NM_000151.4(G6PC1):c.*2800G>A
|
rs886052967
|
0.00079
|
NM_001041.4(SI):c.825C>T (p.Tyr275=)
|
rs139867598
|
0.00079
|
NM_000027.4(AGA):c.376C>G (p.Leu126Val)
|
rs200420067
|
0.00078
|
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)
|
rs144222167
|
0.00078
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000263.3(NAGLU):c.-167G>T
|
rs145830042
|
0.00078
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
NM_012203.2(GRHPR):c.801A>C (p.Gly267=)
|
rs141800325
|
0.00078
|
NM_012434.5(SLC17A5):c.*1533A>G
|
rs530389010
|
0.00078
|
NM_152419.3(HGSNAT):c.*304C>A
|
rs752711559
|
0.00078
|
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
NM_001164277.2(SLC37A4):c.-700+9C>T
|
rs534659292
|
0.00077
|
NM_005327.7(HADH):c.*600C>T
|
rs544321475
|
0.00077
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_000027.4(AGA):c.*96A>T
|
rs141424240
|
0.00076
|
NM_000262.3(NAGA):c.*107G>A
|
rs531819016
|
0.00076
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
NM_000512.5(GALNS):c.*523G>A
|
rs181174683
|
0.00076
|
NM_002294.3(LAMP2):c.*1413A>G
|
rs773379092
|
0.00076
|
NM_033159.4(HYAL1):c.*434C>T
|
rs182987423
|
0.00076
|
NM_000340.2(SLC2A2):c.*1207G>A
|
rs28579899
|
0.00074
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys)
|
rs144792551
|
0.00074
|
NM_002076.4(GNS):c.*1681C>G
|
rs142676698
|
0.00074
|
NM_002294.3(LAMP2):c.*3488C>T
|
rs773236667
|
0.00074
|
NM_005327.4(HADH):c.-51delC
|
rs574132278
|
0.00074
|
NM_000046.5(ARSB):c.*1420G>A
|
rs79166190
|
0.00073
|
NM_000158.4(GBE1):c.*468G>A
|
rs750772386
|
0.00073
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_000891.3(KCNJ2):c.*2277C>T
|
rs185701493
|
0.00071
|
NM_000046.5(ARSB):c.*965A>G
|
rs144818735
|
0.00070
|
NM_000294.3(PHKG2):c.-28G>T
|
rs556945561
|
0.00070
|
NM_002300.8(LDHB):c.621G>T (p.Val207=)
|
rs147896432
|
0.00070
|
NM_152419.3(HGSNAT):c.*778T>C
|
rs557848863
|
0.00070
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
NM_002637.4(PHKA1):c.*1275A>G
|
rs782306248
|
0.00069
|
NM_152419.3(HGSNAT):c.*772C>G
|
rs538483135
|
0.00069
|
NM_198586.3(NHLRC1):c.*442G>C
|
rs555214908
|
0.00069
|
NM_000158.4(GBE1):c.*555G>A
|
rs143820392
|
0.00068
|
NM_000284.4(PDHA1):c.*432C>T
|
rs754719295
|
0.00068
|
NM_000434.4(NEU1):c.402C>T (p.Pro134=)
|
rs142833447
|
0.00068
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
NM_000642.3(AGL):c.*1610T>C
|
rs184983509
|
0.00068
|
NM_005271.5(GLUD1):c.*1501G>C
|
rs768450394
|
0.00068
|
NM_005908.4(MANBA):c.*8T>G
|
rs199881261
|
0.00068
|
NM_006488.3(KHK):c.562G>A (p.Val188Met)
|
rs41288797
|
0.00068
|
NM_138413.4(HOGA1):c.708G>T (p.Val236=)
|
rs61731946
|
0.00068
|
NM_000365.6(TPI1):c.448G>T (p.Val150Phe)
|
rs150585849
|
0.00067
|
NM_000891.3(KCNJ2):c.*1794C>A
|
rs55864879
|
0.00067
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)
|
rs111970242
|
0.00066
|
NM_001041.4(SI):c.5403C>T (p.Asp1801=)
|
rs146830505
|
0.00066
|
NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr)
|
rs146467199
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_000458.4(HNF1B):c.*691A>G
|
rs751817675
|
0.00064
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
NM_000263.3(NAGLU):c.-212G>C
|
rs538288877
|
0.00063
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
NM_000507.4(FBP1):c.334-15T>C
|
rs370920869
|
0.00063
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=)
|
rs147697689
|
0.00063
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
NM_005327.7(HADH):c.*168A>T
|
rs532458283
|
0.00062
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
NM_000284.4(PDHA1):c.*321C>T
|
rs886566327
|
0.00061
|
NM_001352514.2(HLCS):c.331-7076C>T
|
rs541806392
|
0.00061
|
NM_002076.4(GNS):c.*1861del
|
rs3832839
|
0.00061
|
NM_002103.5(GYS1):c.*357G>A
|
rs570639504
|
0.00061
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
NM_152419.3(HGSNAT):c.*390G>A
|
rs541493842
|
0.00060
|
NM_001352514.2(HLCS):c.*2814C>T
|
rs146199781
|
0.00059
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
NM_005908.4(MANBA):c.531T>C (p.His177=)
|
rs149902075
|
0.00059
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
NM_001008216.2(GALE):c.*178G>A
|
rs1803612
|
0.00058
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
NM_138413.4(HOGA1):c.*950G>A
|
rs190392004
|
0.00058
|
NM_000155.4(GALT):c.687+9G>C
|
rs117998880
|
0.00057
|
NM_000642.2(AGL):c.-134C>G
|
rs548243205
|
0.00057
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_002300.8(LDHB):c.767G>A (p.Ser256Asn)
|
rs145355418
|
0.00057
|
NM_006516.2(SLC2A1):c.-368A>C
|
rs528964239
|
0.00057
|
NM_000343.3(SLC5A1):c.-60C>T
|
rs200410750
|
0.00056
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
NM_001352514.2(HLCS):c.*2545C>A
|
rs180866987
|
0.00056
|
NM_003051.4(SLC16A1):c.*1654A>G
|
rs761298128
|
0.00056
|
NM_003477.3(PDHX):c.161-6T>C
|
rs200438675
|
0.00056
|
NM_138413.4(HOGA1):c.*292C>T
|
rs771988623
|
0.00056
|
NM_003597.5(KLF11):c.-83G>A
|
rs943136426
|
0.00055
|
NM_138413.4(HOGA1):c.*850G>T
|
rs560555907
|
0.00055
|
NM_175914.5(HNF4A):c.*271C>T
|
rs11574745
|
0.00055
|
NM_002299.4(LCT):c.1539G>A (p.Glu513=)
|
rs202186209
|
0.00054
|
NM_003597.5(KLF11):c.*2265T>A
|
rs757068768
|
0.00054
|
NM_000151.4(G6PC1):c.*1986T>C
|
rs542411157
|
0.00053
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
NM_000642.3(AGL):c.*698A>G
|
rs537319413
|
0.00053
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
NM_005327.4(HADH):c.-115delG
|
rs537335460
|
0.00053
|
NM_012434.5(SLC17A5):c.*1630G>T
|
rs141885984
|
0.00053
|
NM_000046.5(ARSB):c.*3047T>C
|
rs560253823
|
0.00052
|
NM_000108.5(DLD):c.*1307C>T
|
rs568807016
|
0.00052
|
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
|
rs200831987
|
0.00052
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_000507.4(FBP1):c.275C>T (p.Thr92Met)
|
rs141270413
|
0.00052
|
NM_138413.4(HOGA1):c.*55T>C
|
rs763365957
|
0.00052
|
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)
|
rs151185188
|
0.00051
|
NM_000199.5(SGSH):c.*499C>T
|
rs886053555
|
0.00051
|
NM_000512.5(GALNS):c.*197C>T
|
rs187469283
|
0.00051
|
NM_000642.3(AGL):c.*595A>G
|
rs763929813
|
0.00051
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
NM_000925.4(PDHB):c.701-3C>T
|
rs377063331
|
0.00051
|
NM_001041.4(SI):c.2892G>A (p.Thr964=)
|
rs145486890
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)
|
rs149640294
|
0.00051
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
NM_001008216.2(GALE):c.873+13_873+14insA
|
rs765063773
|
0.00050
|
NM_002500.5(NEUROD1):c.*253A>G
|
rs546609239
|
0.00050
|
NM_003477.3(PDHX):c.674C>T (p.Thr225Met)
|
rs148645836
|
0.00050
|
NM_000162.5(GCK):c.-453C>T
|
rs191795044
|
0.00049
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
NM_005327.4(HADH):c.-203A>G
|
rs376591232
|
0.00049
|
NM_000046.5(ARSB):c.*810C>T
|
rs777160780
|
0.00048
|
NM_000262.3(NAGA):c.*176C>G
|
rs191051580
|
0.00048
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser)
|
rs201360702
|
0.00048
|
NM_003051.4(SLC16A1):c.*516C>G
|
rs754537571
|
0.00048
|
NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser)
|
rs144787855
|
0.00048
|
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)
|
rs370453371
|
0.00047
|
NM_000512.5(GALNS):c.*573A>G
|
rs551511278
|
0.00047
|
NM_001360016.2(G6PD):c.*75C>T
|
rs938857639
|
0.00047
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
NM_000046.5(ARSB):c.*2251G>A
|
rs532513960
|
0.00046
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
NM_000298.6(PKLR):c.507+14C>A
|
rs201156800
|
0.00046
|
NM_022895.3(C12orf43):c.*1891G>A
|
rs568653423
|
0.00046
|
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)
|
rs147678727
|
0.00046
|
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr)
|
rs146704780
|
0.00045
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_000154.2(GALK1):c.66G>A (p.Glu22=)
|
rs367558510
|
0.00045
|
NM_000298.6(PKLR):c.-26C>T
|
rs200181342
|
0.00045
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
NM_000642.3(AGL):c.*564T>C
|
rs552782825
|
0.00045
|
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met)
|
rs191115811
|
0.00045
|
NM_022895.3(C12orf43):c.*1649G>A
|
rs56335342
|
0.00045
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
|
rs139041112
|
0.00044
|
NM_002863.5(PYGL):c.147C>T (p.Thr49=)
|
rs139338050
|
0.00044
|
NM_012434.5(SLC17A5):c.*762C>T
|
rs768718508
|
0.00044
|
NM_017755.6(NSUN2):c.258C>T (p.His86=)
|
rs141912087
|
0.00044
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_138413.4(HOGA1):c.237C>T (p.Gly79=)
|
rs148094180
|
0.00044
|
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)
|
rs142969817
|
0.00043
|
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)
|
rs180177290
|
0.00043
|
NM_000289.6(PFKM):c.*622G>A
|
rs568063197
|
0.00043
|
NM_002299.4(LCT):c.1461G>A (p.Ala487=)
|
rs146206234
|
0.00043
|
NM_002299.4(LCT):c.2760C>T (p.Gly920=)
|
rs200579267
|
0.00043
|
NM_002591.4(PCK1):c.64A>G (p.Ser22Gly)
|
rs140235265
|
0.00043
|
NM_000027.4(AGA):c.*752G>C
|
rs540646864
|
0.00042
|
NM_000155.3(GALT):c.-88G>A
|
rs144505931
|
0.00042
|
NM_003477.3(PDHX):c.*743G>A
|
rs577162977
|
0.00042
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00042
|
NM_152419.3(HGSNAT):c.*3198G>A
|
rs576281567
|
0.00042
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_000293.3(PHKB):c.305+11G>T
|
rs368293023
|
0.00041
|
NM_000525.4(KCNJ11):c.-546G>T
|
rs886048045
|
0.00041
|
NM_001040716.2(PC):c.486G>A (p.Ala162=)
|
rs142416378
|
0.00041
|
NM_001127628.2(FBP1):c.-24-321C>G
|
rs28382859
|
0.00041
|
NM_001160372.4(TRAPPC9):c.2557-14T>A
|
rs757482428
|
0.00041
|
NM_002076.4(GNS):c.*152G>A
|
rs768957003
|
0.00041
|
NM_002076.4(GNS):c.*357T>C
|
rs554471490
|
0.00041
|
NM_002863.5(PYGL):c.1920G>A (p.Lys640=)
|
rs140296036
|
0.00041
|
NM_003051.3(SLC16A1):c.-248G>T
|
rs762453730
|
0.00041
|
NM_003597.5(KLF11):c.*756C>T
|
rs886054727
|
0.00041
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
NM_017755.6(NSUN2):c.1226+4A>T
|
rs202085420
|
0.00041
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
NM_000046.3(ARSB):c.-590A>T
|
rs138175832
|
0.00040
|
NM_000108.5(DLD):c.*1857A>C
|
rs774099916
|
0.00040
|
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331
|
0.00040
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
NM_000507.4(FBP1):c.670G>A (p.Val224Ile)
|
rs140222720
|
0.00040
|
NM_002294.3(LAMP2):c.*4757A>G
|
rs767652057
|
0.00040
|
NM_003619.4(PRSS12):c.*920G>C
|
rs567789007
|
0.00040
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
NM_001164277.2(SLC37A4):c.*298C>T
|
rs886047745
|
0.00039
|
NM_002294.3(LAMP2):c.*4961A>G
|
rs765371462
|
0.00039
|
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)
|
rs183103554
|
0.00039
|
NM_003041.4(SLC5A2):c.568G>A (p.Val190Met)
|
rs138803748
|
0.00039
|
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)
|
rs146876119
|
0.00039
|
NM_012434.4(SLC17A5):c.-107C>A
|
rs867617433
|
0.00039
|
NM_016042.4(EXOSC3):c.*954G>A
|
rs530895640
|
0.00039
|
NM_175914.5(HNF4A):c.*2153T>C
|
rs760628227
|
0.00039
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000162.5(GCK):c.*764C>T
|
rs185418856
|
0.00038
|
NM_000263.3(NAGLU):c.-271A>G
|
rs369458319
|
0.00038
|
NM_000294.3(PHKG2):c.585G>A (p.Ala195=)
|
rs187710792
|
0.00038
|
NM_000352.6(ABCC8):c.486C>T (p.Ile162=)
|
rs149872185
|
0.00038
|
NM_001014436.3(DBNL):c.*4668T>G
|
rs528717273
|
0.00038
|
NM_001041.4(SI):c.2789A>G (p.Gln930Arg)
|
rs150927256
|
0.00038
|
NM_001360016.2(G6PD):c.*281C>T
|
rs975719422
|
0.00038
|
NM_002500.5(NEUROD1):c.*1096T>C
|
rs188774781
|
0.00038
|
NM_003597.5(KLF11):c.-104C>T
|
rs886054718
|
0.00038
|
NM_005609.2(PYGM):c.-789T>C
|
rs143460923
|
0.00038
|
NM_006516.4(SLC2A1):c.*1337A>C
|
rs113441673
|
0.00038
|
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)
|
rs146227450
|
0.00038
|
NM_012434.5(SLC17A5):c.*174G>C
|
rs575300701
|
0.00038
|
NM_016042.4(EXOSC3):c.*795A>G
|
rs558579097
|
0.00038
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_000027.4(AGA):c.885G>A (p.Lys295=)
|
rs34019119
|
0.00037
|
NM_000152.5(GAA):c.*64G>T
|
rs187532717
|
0.00037
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
NM_001039770.3(TMPPE):c.-500C>G
|
rs368944274
|
0.00037
|
NM_002294.3(LAMP2):c.*1632A>G
|
rs755434692
|
0.00037
|
NM_002300.7(LDHB):c.-102C>A
|
rs542962114
|
0.00037
|
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)
|
rs140060360
|
0.00037
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000298.6(PKLR):c.*582G>A
|
rs758139094
|
0.00036
|
NM_000340.2(SLC2A2):c.*153A>G
|
rs530625053
|
0.00036
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln)
|
rs146445744
|
0.00036
|
NM_000293.3(PHKB):c.*279C>T
|
rs140112731
|
0.00035
|
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
|
rs150851401
|
0.00035
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
NM_138413.4(HOGA1):c.*289C>T
|
rs540860054
|
0.00035
|
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)
|
rs867446205
|
0.00035
|
NM_000027.4(AGA):c.*317T>C
|
rs143028069
|
0.00034
|
NM_000151.4(G6PC1):c.*1981C>T
|
rs573802724
|
0.00034
|
NM_000151.4(G6PC1):c.*24A>C
|
rs377739870
|
0.00034
|
NM_000151.4(G6PC1):c.*556C>T
|
rs533491939
|
0.00034
|
NM_000262.3(NAGA):c.*155A>G
|
rs761125179
|
0.00034
|
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys)
|
rs150235677
|
0.00034
|
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)
|
rs137869198
|
0.00034
|
NM_000298.6(PKLR):c.111G>T (p.Gly37=)
|
rs141341788
|
0.00034
|
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)
|
rs138555898
|
0.00034
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00034
|
NM_001160372.4(TRAPPC9):c.3055+11G>A
|
rs374709193
|
0.00034
|
NM_002299.4(LCT):c.3285C>T (p.His1095=)
|
rs372534937
|
0.00034
|
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
|
rs142008108
|
0.00034
|
NM_006755.2(TALDO1):c.461+14C>T
|
rs373077928
|
0.00034
|
NM_017755.6(NSUN2):c.1602-14G>C
|
rs771558713
|
0.00034
|
NM_000263.3(NAGLU):c.-275T>C
|
rs567758523
|
0.00033
|
NM_000284.4(PDHA1):c.*729G>A
|
rs376808450
|
0.00033
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_002500.5(NEUROD1):c.*283A>G
|
rs535699215
|
0.00033
|
NM_003597.5(KLF11):c.-146C>T
|
rs886054717
|
0.00033
|
NM_016042.4(EXOSC3):c.-11T>C
|
rs373191549
|
0.00033
|
NM_017755.6(NSUN2):c.*389A>G
|
rs780214753
|
0.00033
|
NM_152419.2(HGSNAT):c.-37C>T
|
rs886062951
|
0.00033
|
NM_152419.3(HGSNAT):c.*2591G>A
|
rs760484403
|
0.00033
|
NM_152419.3(HGSNAT):c.*3086C>T
|
rs531967582
|
0.00033
|
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=)
|
rs141448616
|
0.00033
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
NM_000262.3(NAGA):c.*1555C>T
|
rs866446194
|
0.00032
|
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly)
|
rs181735466
|
0.00032
|
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln)
|
rs140545494
|
0.00032
|
NM_000294.3(PHKG2):c.21G>A (p.Pro7=)
|
rs200427925
|
0.00032
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
NM_002076.4(GNS):c.*2301G>A
|
rs141182054
|
0.00032
|
NM_012434.5(SLC17A5):c.*550G>A
|
rs538417413
|
0.00032
|
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)
|
rs200632199
|
0.00032
|
NM_152419.3(HGSNAT):c.*1251C>A
|
rs756060730
|
0.00032
|
NM_175914.5(HNF4A):c.*2992C>T
|
rs770250175
|
0.00032
|
NM_000289.5(PFKM):c.-174G>A
|
rs765876195
|
0.00031
|
NM_000294.3(PHKG2):c.*22C>T
|
rs372172604
|
0.00031
|
NM_000343.3(SLC5A1):c.-120C>T
|
rs886057399
|
0.00031
|
NM_000512.5(GALNS):c.*140C>A
|
rs557356503
|
0.00031
|
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)
|
rs200033151
|
0.00031
|
NM_001040716.2(PC):c.3198C>T (p.Ser1066=)
|
rs144087445
|
0.00031
|
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu)
|
rs373902181
|
0.00031
|
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=)
|
rs150246870
|
0.00031
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_012203.2(GRHPR):c.*24G>A
|
rs202111075
|
0.00031
|
NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr)
|
rs140568381
|
0.00031
|
NM_021957.4(GYS2):c.1251C>T (p.Asn417=)
|
rs139882761
|
0.00031
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
|
rs139002629
|
0.00030
|
NM_000308.4(CTSA):c.*266T>A
|
rs536094482
|
0.00030
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys)
|
rs142702682
|
0.00030
|
NM_001360016.2(G6PD):c.*548C>T
|
rs181015082
|
0.00030
|
NM_138413.4(HOGA1):c.185A>T (p.His62Leu)
|
rs150812556
|
0.00030
|
NM_000046.5(ARSB):c.*1610G>A
|
rs867100156
|
0.00029
|
NM_000046.5(ARSB):c.*166G>A
|
rs181321349
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000147.4(FUCA1):c.-44G>A
|
rs139832548
|
0.00029
|
NM_000155.4(GALT):c.*8G>A
|
rs370285476
|
0.00029
|
NM_000158.4(GBE1):c.*466G>A
|
rs571158601
|
0.00029
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000199.5(SGSH):c.*501C>T
|
rs377165572
|
0.00029
|
NM_000262.3(NAGA):c.993G>T (p.Leu331=)
|
rs147853281
|
0.00029
|
NM_000293.3(PHKB):c.1364-10T>C
|
rs199899291
|
0.00029
|
NM_000293.3(PHKB):c.1631A>G (p.Asn544Ser)
|
rs139383341
|
0.00029
|
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
|
rs144407534
|
0.00029
|
NM_000458.4(HNF1B):c.*445A>G
|
rs571607314
|
0.00029
|
NM_000507.4(FBP1):c.102G>C (p.Leu34=)
|
rs143832764
|
0.00029
|
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
|
rs139264724
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
|
rs199967717
|
0.00029
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
NM_001008216.2(GALE):c.369G>A (p.Gly123=)
|
rs138148991
|
0.00029
|
NM_001008216.2(GALE):c.997C>A (p.Leu333Ile)
|
rs199614710
|
0.00029
|
NM_001160372.4(TRAPPC9):c.2556+11A>G
|
rs201489589
|
0.00029
|
NM_001352514.2(HLCS):c.*2771C>T
|
rs746169122
|
0.00029
|
NM_001352514.2(HLCS):c.*430T>C
|
rs186680398
|
0.00029
|
NM_002103.5(GYS1):c.1338C>T (p.His446=)
|
rs139974904
|
0.00029
|
NM_002591.4(PCK1):c.-40-14G>A
|
rs533125583
|
0.00029
|
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met)
|
rs144989341
|
0.00029
|
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)
|
rs77373295
|
0.00029
|
NM_003597.5(KLF11):c.*2273C>T
|
rs534714754
|
0.00029
|
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)
|
rs147428514
|
0.00029
|
NM_006755.2(TALDO1):c.*30C>T
|
rs200971004
|
0.00029
|
NM_175914.5(HNF4A):c.*764C>T
|
rs537782818
|
0.00029
|
NM_000027.4(AGA):c.*136T>C
|
rs184905324
|
0.00028
|
NM_000046.5(ARSB):c.*212A>G
|
rs561718720
|
0.00028
|
NM_000046.5(ARSB):c.*2559G>A
|
rs975658724
|
0.00028
|
NM_000404.4(GLB1):c.1347+10G>A
|
rs199538100
|
0.00028
|
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)
|
rs200679026
|
0.00028
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
NM_001041.4(SI):c.1919A>G (p.Glu640Gly)
|
rs142789249
|
0.00028
|
NM_001715.2(BLK):c.-209C>T
|
rs559867785
|
0.00028
|
NM_002076.4(GNS):c.1434C>G (p.Val478=)
|
rs141958901
|
0.00028
|
NM_002591.4(PCK1):c.*365G>A
|
rs886056802
|
0.00028
|
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr)
|
rs143596402
|
0.00028
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
NM_022895.3(C12orf43):c.*1917C>T
|
rs1039799815
|
0.00028
|
NM_000046.5(ARSB):c.*1951A>G
|
rs149854678
|
0.00027
|
NM_000512.5(GALNS):c.*29A>C
|
rs377151771
|
0.00027
|
NM_001040716.2(PC):c.*15G>A
|
rs45501894
|
0.00027
|
NM_002591.4(PCK1):c.954C>T (p.Asp318=)
|
rs147943264
|
0.00027
|
NM_002637.4(PHKA1):c.*1865G>T
|
rs782659275
|
0.00027
|
NM_000151.4(G6PC1):c.*1970A>G
|
rs192778595
|
0.00026
|
NM_000152.5(GAA):c.*98A>T
|
rs886053548
|
0.00026
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000154.2(GALK1):c.*85C>T
|
rs542735255
|
0.00026
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_000203.5(IDUA):c.-71C>T
|
rs886059748
|
0.00026
|
NM_000298.6(PKLR):c.6G>A (p.Ser2=)
|
rs139697646
|
0.00026
|
NM_000343.4(SLC5A1):c.*707G>A
|
rs886057409
|
0.00026
|
NM_000458.4(HNF1B):c.*629C>T
|
rs566057658
|
0.00026
|
NM_000507.4(FBP1):c.906C>T (p.Ala302=)
|
rs28369776
|
0.00026
|
NM_000512.5(GALNS):c.1482+4A>G
|
rs377407678
|
0.00026
|
NM_000525.4(KCNJ11):c.-154G>T
|
rs539975714
|
0.00026
|
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)
|
rs372896479
|
0.00026
|
NM_001040716.2(PC):c.-282G>A
|
rs886048558
|
0.00026
|
NM_001041.4(SI):c.5367T>C (p.Tyr1789=)
|
rs144206255
|
0.00026
|
NM_001352514.2(HLCS):c.*1084C>T
|
rs530869762
|
0.00026
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
NM_003597.5(KLF11):c.*216_*217insTT
|
rs1553314463
|
0.00026
|
NM_003619.4(PRSS12):c.2179A>G (p.Ile727Val)
|
rs146362932
|
0.00026
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00026
|
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)
|
rs144229867
|
0.00026
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
0.00026
|
NM_175914.5(HNF4A):c.*1395C>T
|
rs568456380
|
0.00026
|
NM_175914.5(HNF4A):c.*547G>A
|
rs1031904976
|
0.00026
|
NM_000108.5(DLD):c.*1736T>C
|
rs190655078
|
0.00025
|
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
|
rs202051939
|
0.00025
|
NM_000343.4(SLC5A1):c.1280+8C>G
|
rs200130719
|
0.00025
|
NM_000404.4(GLB1):c.1530G>A (p.Thr510=)
|
rs191203702
|
0.00025
|
NM_000434.4(NEU1):c.-42T>C
|
rs373597058
|
0.00025
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_001352514.2(HLCS):c.*2541C>T
|
rs184935954
|
0.00025
|
NM_001366110.1(PAX4):c.14-182G>A
|
rs886061971
|
0.00025
|
NM_002076.4(GNS):c.*676A>G
|
rs886049769
|
0.00025
|
NM_002299.4(LCT):c.840C>T (p.Asn280=)
|
rs150722551
|
0.00025
|
NM_002591.4(PCK1):c.*357A>G
|
rs8122025
|
0.00025
|
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)
|
rs139661242
|
0.00025
|
NM_005566.4(LDHA):c.*725T>G
|
rs753218262
|
0.00025
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
NM_152419.3(HGSNAT):c.*2266G>T
|
rs75120048
|
0.00025
|
NM_000108.5(DLD):c.*845G>A
|
rs750426584
|
0.00024
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
NM_000284.4(PDHA1):c.-79C>T
|
rs942040058
|
0.00024
|
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala)
|
rs137946010
|
0.00024
|
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)
|
rs145047641
|
0.00024
|
NM_000294.3(PHKG2):c.360A>G (p.Thr120=)
|
rs149163610
|
0.00024
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
NM_000352.6(ABCC8):c.1630+8C>T
|
rs200053398
|
0.00024
|
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
NM_001008216.2(GALE):c.423C>T (p.Tyr141=)
|
rs138518245
|
0.00024
|
NM_001040716.2(PC):c.715A>G (p.Ile239Val)
|
rs148805312
|
0.00024
|
NM_001365304.2(LOC112694756):c.*1700C>T
|
rs886051897
|
0.00024
|
NM_002076.4(GNS):c.*1759A>G
|
rs540594590
|
0.00024
|
NM_002076.4(GNS):c.*2099G>A
|
rs553360517
|
0.00024
|
NM_002294.3(LAMP2):c.*5172A>G
|
rs778592348
|
0.00024
|
NM_002637.4(PHKA1):c.*887A>G
|
rs1473576299
|
0.00024
|
NM_002863.5(PYGL):c.1274G>A (p.Arg425His)
|
rs2228499
|
0.00024
|
NM_005271.5(GLUD1):c.*1419T>G
|
rs895697576
|
0.00024
|
NM_006721.4(ADK):c.429C>T (p.Cys143=)
|
rs142477111
|
0.00024
|
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln)
|
rs199560759
|
0.00024
|
NM_033159.4(HYAL1):c.*459G>A
|
rs150976767
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_000162.5(GCK):c.-102G>A
|
rs781377703
|
0.00023
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_000290.4(PGAM2):c.288A>G (p.Thr96=)
|
rs139561812
|
0.00023
|
NM_000404.4(GLB1):c.234C>T (p.Asn78=)
|
rs368796666
|
0.00023
|
NM_002103.5(GYS1):c.*229C>T
|
rs920764718
|
0.00023
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg)
|
rs201293992
|
0.00023
|
NM_003597.5(KLF11):c.1102C>T (p.Pro368Ser)
|
rs144897109
|
0.00023
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)
|
rs150686327
|
0.00022
|
NM_000199.5(SGSH):c.676G>A (p.Val226Ile)
|
rs145967352
|
0.00022
|
NM_000289.6(PFKM):c.*452T>C
|
rs563335260
|
0.00022
|
NM_000289.6(PFKM):c.2201A>G (p.His734Arg)
|
rs141570669
|
0.00022
|
NM_000298.6(PKLR):c.965+12G>A
|
rs200039500
|
0.00022
|
NM_000891.3(KCNJ2):c.*3536C>T
|
rs529969829
|
0.00022
|
NM_000891.3(KCNJ2):c.*3618A>G
|
rs530574251
|
0.00022
|
NM_000891.3(KCNJ2):c.-228C>T
|
rs765064661
|
0.00022
|
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)
|
rs115923648
|
0.00022
|
NM_001370658.1(BTD):c.-148C>T
|
rs774964227
|
0.00022
|
NM_002300.8(LDHB):c.749A>G (p.Asn250Ser)
|
rs144739734
|
0.00022
|
NM_002591.4(PCK1):c.898C>T (p.Leu300Phe)
|
rs61760967
|
0.00022
|
NM_003051.3(SLC16A1):c.-360G>A
|
rs758825428
|
0.00022
|
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs)
|
rs560855452
|
0.00022
|
NM_005271.5(GLUD1):c.*970A>G
|
rs760207211
|
0.00022
|
NM_005566.4(LDHA):c.*817A>C
|
rs527401531
|
0.00022
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
NM_006755.2(TALDO1):c.930C>T (p.Asp310=)
|
rs181385165
|
0.00022
|
NM_016042.4(EXOSC3):c.*847T>A
|
rs566642894
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_017755.6(NSUN2):c.486A>G (p.Glu162=)
|
rs147958833
|
0.00022
|
NM_021957.4(GYS2):c.*237T>C
|
rs886049154
|
0.00022
|
NM_022895.3(C12orf43):c.*2791G>A
|
rs547080919
|
0.00022
|
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)
|
rs142941035
|
0.00022
|
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)
|
rs368282218
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
|
rs201674983
|
0.00021
|
NM_000340.2(SLC2A2):c.-48G>A
|
rs372965718
|
0.00021
|
NM_000343.4(SLC5A1):c.*2251G>A
|
rs569361272
|
0.00021
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
NM_000528.4(MAN2B1):c.*41C>T
|
rs371716069
|
0.00021
|
NM_000642.3(AGL):c.622T>C (p.Trp208Arg)
|
rs202084554
|
0.00021
|
NM_001040716.2(PC):c.*373C>T
|
rs189863040
|
0.00021
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
NM_002299.4(LCT):c.2898C>A (p.Leu966=)
|
rs143975097
|
0.00021
|
NM_002299.4(LCT):c.4776C>T (p.Gly1592=)
|
rs183168007
|
0.00021
|
NM_003051.4(SLC16A1):c.-201T>A
|
rs753315328
|
0.00021
|
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val)
|
rs554138665
|
0.00021
|
NM_003477.3(PDHX):c.542+10T>C
|
rs368960575
|
0.00021
|
NM_003597.5(KLF11):c.*1155G>A
|
rs886054729
|
0.00021
|
NM_003597.5(KLF11):c.*654C>T
|
rs144723641
|
0.00021
|
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
|
rs140692906
|
0.00021
|
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=)
|
rs1055478673
|
0.00021
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
NM_000108.5(DLD):c.*1092C>T
|
rs546777301
|
0.00020
|
NM_000147.5(FUCA1):c.*270T>C
|
rs143441916
|
0.00020
|
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)
|
rs202150579
|
0.00020
|
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)
|
rs370582480
|
0.00020
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
NM_000404.4(GLB1):c.1234-11T>A
|
rs145674318
|
0.00020
|
NM_002500.5(NEUROD1):c.*548T>A
|
rs886055324
|
0.00020
|
NM_002863.5(PYGL):c.691G>A (p.Val231Met)
|
rs148378112
|
0.00020
|
NM_005327.7(HADH):c.*514A>G
|
rs183594888
|
0.00020
|
NM_006488.3(KHK):c.210-211C>T
|
rs141417422
|
0.00020
|
NM_013995.2(LAMP2):c.-136C>G
|
rs944875305
|
0.00020
|
NM_017755.6(NSUN2):c.*16C>T
|
rs368107079
|
0.00020
|
NM_022895.3(C12orf43):c.*1796G>A
|
rs927067298
|
0.00020
|
NM_198586.3(NHLRC1):c.*38G>T
|
rs377500729
|
0.00020
|
NM_000027.4(AGA):c.*219T>C
|
rs755458807
|
0.00019
|
NM_000030.3(AGXT):c.489G>A (p.Leu163=)
|
rs147601535
|
0.00019
|
NM_000046.5(ARSB):c.*933C>T
|
rs924998163
|
0.00019
|
NM_000151.4(G6PC1):c.*17G>A
|
rs34537381
|
0.00019
|
NM_000151.4(G6PC1):c.81G>C (p.Gln27His)
|
rs371611000
|
0.00019
|
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
|
rs143321486
|
0.00019
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
NM_000199.5(SGSH):c.*890G>A
|
rs111726823
|
0.00019
|
NM_000293.3(PHKB):c.*132G>A
|
rs375856403
|
0.00019
|
NM_000293.3(PHKB):c.1204+9G>T
|
rs200832185
|
0.00019
|
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)
|
rs150902092
|
0.00019
|
NM_000298.6(PKLR):c.*499G>A
|
rs777573500
|
0.00019
|
NM_000308.4(CTSA):c.1059G>A (p.Pro353=)
|
rs74694805
|
0.00019
|
NM_000343.4(SLC5A1):c.*1312A>G
|
rs768251081
|
0.00019
|
NM_000343.4(SLC5A1):c.*1995T>C
|
rs999440734
|
0.00019
|
NM_000512.5(GALNS):c.*656T>C
|
rs763539126
|
0.00019
|
NM_000642.3(AGL):c.*2160C>T
|
rs753401733
|
0.00019
|
NM_001040716.2(PC):c.*353A>G
|
rs557595819
|
0.00019
|
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
|
rs141324828
|
0.00019
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
NM_001041.4(SI):c.1544G>T (p.Gly515Val)
|
rs144972103
|
0.00019
|
NM_001041.4(SI):c.4239C>T (p.Asp1413=)
|
rs138374817
|
0.00019
|
NM_001041.4(SI):c.556T>C (p.Ser186Pro)
|
rs142447888
|
0.00019
|
NM_001164277.2(SLC37A4):c.-670C>T
|
rs886047754
|
0.00019
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
0.00019
|
NM_001352514.2(HLCS):c.*1852G>T
|
rs551457805
|
0.00019
|
NM_003597.5(KLF11):c.*1658G>A
|
rs367805998
|
0.00019
|
NM_003597.5(KLF11):c.*674G>C
|
rs574996537
|
0.00019
|
NM_003619.4(PRSS12):c.1490-15T>C
|
rs746343292
|
0.00019
|
NM_003619.4(PRSS12):c.2503G>A (p.Gly835Arg)
|
rs139833696
|
0.00019
|
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp)
|
rs140467698
|
0.00019
|
NM_020897.3(HCN3):c.*1243A>G
|
rs886045347
|
0.00019
|
NM_021957.4(GYS2):c.*654G>A
|
rs770305709
|
0.00019
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00019
|
NM_152419.3(HGSNAT):c.*2538A>G
|
rs192349256
|
0.00019
|
NM_153281.2(HYAL1):c.-395G>A
|
rs886058699
|
0.00019
|
NM_153281.2(HYAL1):c.-89G>A
|
rs141540659
|
0.00019
|
NM_175914.5(HNF4A):c.*3013A>G
|
rs773868595
|
0.00019
|
NM_000046.5(ARSB):c.*1594C>A
|
rs188998831
|
0.00018
|
NM_000046.5(ARSB):c.*1729del
|
rs369595123
|
0.00018
|
NM_000152.5(GAA):c.*310C>T
|
rs550314730
|
0.00018
|
NM_000158.4(GBE1):c.313+15G>A
|
rs184391304
|
0.00018
|
NM_000262.3(NAGA):c.697G>A (p.Val233Met)
|
rs201294991
|
0.00018
|
NM_000284.4(PDHA1):c.*1306G>A
|
rs745566169
|
0.00018
|
NM_000293.3(PHKB):c.*323G>C
|
rs886052024
|
0.00018
|
NM_000294.3(PHKG2):c.921G>T (p.Arg307=)
|
rs201113602
|
0.00018
|
NM_000434.4(NEU1):c.*524C>T
|
rs886061286
|
0.00018
|
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn)
|
rs202031547
|
0.00018
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)
|
rs371426683
|
0.00018
|
NM_001352514.2(HLCS):c.*3156A>G
|
rs886738924
|
0.00018
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_002500.5(NEUROD1):c.*454C>T
|
rs923588837
|
0.00018
|
NM_003619.4(PRSS12):c.1277G>A (p.Arg426Gln)
|
rs138640682
|
0.00018
|
NM_006488.3(KHK):c.*326G>A
|
rs148558475
|
0.00018
|
NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg)
|
rs147961544
|
0.00018
|
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp)
|
rs142835989
|
0.00018
|
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
|
rs371273730
|
0.00018
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000203.5(IDUA):c.630C>T (p.Arg210=)
|
rs376012666
|
0.00017
|
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)
|
rs200080569
|
0.00017
|
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
|
rs140956564
|
0.00017
|
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln)
|
rs146456266
|
0.00017
|
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln)
|
rs538127151
|
0.00017
|
NM_000528.4(MAN2B1):c.2268-11C>T
|
rs537217370
|
0.00017
|
NM_000545.8(HNF1A):c.693G>A (p.Thr231=)
|
rs145240086
|
0.00017
|
NM_001008216.2(GALE):c.447C>G (p.Pro149=)
|
rs571625657
|
0.00017
|
NM_001360016.2(G6PD):c.*365G>A
|
rs1034742794
|
0.00017
|
NM_001715.3(BLK):c.*209C>G
|
rs544690947
|
0.00017
|
NM_002591.4(PCK1):c.414C>A (p.Thr138=)
|
rs143220447
|
0.00017
|
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr)
|
rs140508520
|
0.00017
|
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val)
|
rs75430333
|
0.00017
|
NM_003619.4(PRSS12):c.*1141T>C
|
rs574310044
|
0.00017
|
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
|
rs577954688
|
0.00017
|
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu)
|
rs147023714
|
0.00017
|
NM_005908.4(MANBA):c.2416-3C>T
|
rs375466384
|
0.00017
|
NM_006488.3(KHK):c.48C>T (p.Val16=)
|
rs200769127
|
0.00017
|
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
|
rs371042202
|
0.00017
|
NM_000030.3(AGXT):c.524+6C>A
|
rs770992934
|
0.00016
|
NM_000035.4(ALDOB):c.*286C>T
|
rs886063291
|
0.00016
|
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr)
|
rs201234153
|
0.00016
|
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)
|
rs202125745
|
0.00016
|
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
|
rs138618819
|
0.00016
|
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
|
rs762586
|
0.00016
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
NM_000203.5(IDUA):c.663C>G (p.Pro221=)
|
rs368553582
|
0.00016
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000263.4(NAGLU):c.348C>T (p.Ala116=)
|
rs559674042
|
0.00016
|
NM_000284.4(PDHA1):c.*1458C>T
|
rs923765752
|
0.00016
|
NM_000308.3(CTSA):c.-52G>A
|
rs373024722
|
0.00016
|
NM_000308.4(CTSA):c.*50C>T
|
rs370691011
|
0.00016
|
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
|
rs201800716
|
0.00016
|
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)
|
rs145673861
|
0.00016
|
NM_000434.4(NEU1):c.*454A>G
|
rs886061287
|
0.00016
|
NM_000525.4(KCNJ11):c.*546G>A
|
rs886048037
|
0.00016
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
NM_001014436.3(DBNL):c.*1813T>C
|
rs374509693
|
0.00016
|
NM_001014436.3(DBNL):c.*4645dup
|
rs554686318
|
0.00016
|
NM_001040716.2(PC):c.2804C>T (p.Ala935Val)
|
rs139540331
|
0.00016
|
NM_001352514.2(HLCS):c.*2069T>C
|
rs540511044
|
0.00016
|
NM_002076.4(GNS):c.5G>C (p.Arg2Pro)
|
rs759075764
|
0.00016
|
NM_003597.5(KLF11):c.*956C>T
|
rs149067484
|
0.00016
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
NM_005566.4(LDHA):c.*129A>G
|
rs199722017
|
0.00016
|
NM_005609.3(PYGM):c.-146C>A
|
rs764403406
|
0.00016
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
NM_006721.4(ADK):c.*349T>C
|
rs896781492
|
0.00016
|
NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr)
|
rs146282855
|
0.00016
|
NM_016219.5(MAN1B1):c.*553A>G
|
rs754678273
|
0.00016
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
NM_021957.4(GYS2):c.*359C>T
|
rs542459418
|
0.00016
|
NM_021957.4(GYS2):c.1713C>T (p.Leu571=)
|
rs139122418
|
0.00016
|
NM_053013.4(ENO3):c.249C>T (p.Ser83=)
|
rs145859308
|
0.00016
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
NM_175914.5(HNF4A):c.*1087G>C
|
rs540463510
|
0.00016
|
NM_175914.5(HNF4A):c.*2193T>C
|
rs148871044
|
0.00016
|
NM_175914.5(HNF4A):c.50-4753G>A
|
rs566155738
|
0.00016
|
NM_175914.5(HNF4A):c.582+12C>T
|
rs372596032
|
0.00016
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)
|
rs190496263
|
0.00015
|
NM_000199.5(SGSH):c.276C>G (p.His92Gln)
|
rs201478799
|
0.00015
|
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
|
rs115550028
|
0.00015
|
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp)
|
rs200981229
|
0.00015
|
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
|
rs375661192
|
0.00015
|
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
|
rs200762972
|
0.00015
|
NM_000404.4(GLB1):c.1479+11C>T
|
rs369789589
|
0.00015
|
NM_001370658.1(BTD):c.-105C>T
|
rs184480128
|
0.00015
|
NM_001715.3(BLK):c.-203C>T
|
rs886062592
|
0.00015
|
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser)
|
rs199605698
|
0.00015
|
NM_002103.5(GYS1):c.*370A>C
|
rs185366453
|
0.00015
|
NM_002299.4(LCT):c.4362T>G (p.Ser1454=)
|
rs776712928
|
0.00015
|
NM_002591.4(PCK1):c.577C>T (p.Leu193Phe)
|
rs139125510
|
0.00015
|
NM_003597.5(KLF11):c.-108G>A
|
rs868540286
|
0.00015
|
NM_003619.4(PRSS12):c.*233G>C
|
rs886059032
|
0.00015
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
NM_000027.4(AGA):c.793C>T (p.Arg265Cys)
|
rs146710132
|
0.00014
|
NM_000108.5(DLD):c.*739G>A
|
rs181103944
|
0.00014
|
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)
|
rs61749951
|
0.00014
|
NM_000147.5(FUCA1):c.405G>A (p.Thr135=)
|
rs145153173
|
0.00014
|
NM_000151.4(G6PC1):c.*2133C>T
|
rs183542930
|
0.00014
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
NM_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
NM_000158.4(GBE1):c.1803G>A (p.Gln601=)
|
rs368793136
|
0.00014
|
NM_000158.4(GBE1):c.45G>A (p.Glu15=)
|
rs370326965
|
0.00014
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
NM_000199.4(SGSH):c.-23C>T
|
rs533566888
|
0.00014
|
NM_000262.3(NAGA):c.*572G>A
|
rs538578699
|
0.00014
|
NM_000293.3(PHKB):c.*991A>G
|
rs951718946
|
0.00014
|
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=)
|
rs200228396
|
0.00014
|
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
|
rs148720069
|
0.00014
|
NM_000512.5(GALNS):c.*287T>C
|
rs776880179
|
0.00014
|
NM_000525.4(KCNJ11):c.*697G>A
|
rs117976105
|
0.00014
|
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)
|
rs139366493
|
0.00014
|
NM_000528.4(MAN2B1):c.630+6A>T
|
rs372899975
|
0.00014
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser)
|
rs139950099
|
0.00014
|
NM_000642.3(AGL):c.846+14G>A
|
rs376827010
|
0.00014
|
NM_000891.3(KCNJ2):c.*1128dup
|
rs777658732
|
0.00014
|
NM_000891.3(KCNJ2):c.*213G>A
|
rs886053326
|
0.00014
|
NM_000891.3(KCNJ2):c.*879C>T
|
rs969533203
|
0.00014
|
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp)
|
rs771656737
|
0.00014
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
NM_001041.4(SI):c.3424-12T>C
|
rs77749967
|
0.00014
|
NM_001041.4(SI):c.4950C>T (p.Tyr1650=)
|
rs370336977
|
0.00014
|
NM_001041.4(SI):c.639T>C (p.Phe213=)
|
rs368517998
|
0.00014
|
NM_001352514.2(HLCS):c.*1273T>A
|
rs565500474
|
0.00014
|
NM_001352514.2(HLCS):c.294A>C (p.Gln98His)
|
rs751729789
|
0.00014
|
NM_003041.4(SLC5A2):c.1450-14T>C
|
rs374122696
|
0.00014
|
NM_003619.4(PRSS12):c.*1143C>T
|
rs987189753
|
0.00014
|
NM_003619.4(PRSS12):c.*221A>T
|
rs774121509
|
0.00014
|
NM_012203.2(GRHPR):c.336C>T (p.Ala112=)
|
rs148778319
|
0.00014
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
NM_017755.6(NSUN2):c.*140T>C
|
rs564014439
|
0.00014
|
NM_020897.3(HCN3):c.*1374T>C
|
rs180944719
|
0.00014
|
NM_022895.3(C12orf43):c.*2097G>A
|
rs750496742
|
0.00014
|
NM_138413.4(HOGA1):c.*593G>A
|
rs564823369
|
0.00014
|
NM_152419.3(HGSNAT):c.*2472G>C
|
rs773357212
|
0.00014
|
NM_152419.3(HGSNAT):c.*2502A>G
|
rs763278248
|
0.00014
|
NM_175914.5(HNF4A):c.*1364G>A
|
rs187923731
|
0.00014
|
NM_175914.5(HNF4A):c.*3068C>T
|
rs753843962
|
0.00014
|
NM_198586.3(NHLRC1):c.*837G>A
|
rs536257194
|
0.00014
|
NM_000035.4(ALDOB):c.*898T>C
|
rs886063287
|
0.00013
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
NM_000046.5(ARSB):c.*2571A>G
|
rs963944156
|
0.00013
|
NM_000046.5(ARSB):c.1533C>T (p.Pro511=)
|
rs528157833
|
0.00013
|
NM_000108.5(DLD):c.-8G>T
|
rs372155330
|
0.00013
|
NM_000152.5(GAA):c.546+3G>A
|
rs371405931
|
0.00013
|
NM_000155.4(GALT):c.507+12C>T
|
rs199572263
|
0.00013
|
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)
|
rs121965025
|
0.00013
|
NM_000293.3(PHKB):c.2197-10A>T
|
rs750018974
|
0.00013
|
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys)
|
rs762531075
|
0.00013
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)
|
rs139760182
|
0.00013
|
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr)
|
rs201862174
|
0.00013
|
NM_000365.6(TPI1):c.543+6C>T
|
rs369693539
|
0.00013
|
NM_000458.4(HNF1B):c.-82G>T
|
rs886052892
|
0.00013
|
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu)
|
rs766513928
|
0.00013
|
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys)
|
rs988974694
|
0.00013
|
NM_000891.3(KCNJ2):c.*2887T>G
|
rs770284843
|
0.00013
|
NM_001041.4(SI):c.4540+4A>G
|
rs201654919
|
0.00013
|
NM_001041.4(SI):c.5108+13T>C
|
rs535082142
|
0.00013
|
NM_001042351.3(G6PD):c.-23G>A
|
rs782577241
|
0.00013
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His)
|
rs201794043
|
0.00013
|
NM_001365304.2(LOC112694756):c.*1680C>T
|
rs886051896
|
0.00013
|
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=)
|
rs201607054
|
0.00013
|
NM_002294.3(LAMP2):c.*2476C>T
|
rs776684734
|
0.00013
|
NM_002299.4(LCT):c.*230T>C
|
rs749324196
|
0.00013
|
NM_003477.3(PDHX):c.*763G>A
|
rs886048250
|
0.00013
|
NM_003619.4(PRSS12):c.2034C>G (p.Phe678Leu)
|
rs142551296
|
0.00013
|
NM_003619.4(PRSS12):c.669G>A (p.Pro223=)
|
rs151271524
|
0.00013
|
NM_005327.7(HADH):c.133-15C>T
|
rs190144364
|
0.00013
|
NM_005566.4(LDHA):c.*660C>T
|
rs765180823
|
0.00013
|
NM_005609.2(PYGM):c.-724C>G
|
rs754685048
|
0.00013
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)
|
rs377461918
|
0.00013
|
NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp)
|
rs575361734
|
0.00013
|
NM_016219.5(MAN1B1):c.770T>C (p.Phe257Ser)
|
rs768668950
|
0.00013
|
NM_017755.6(NSUN2):c.*294C>G
|
rs886060727
|
0.00013
|
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=)
|
rs150785220
|
0.00013
|
NM_020897.3(HCN3):c.*1068G>A
|
rs528740550
|
0.00013
|
NM_021957.4(GYS2):c.1890+12A>G
|
rs192853475
|
0.00013
|
NM_022895.3(C12orf43):c.*2340G>A
|
rs1026422272
|
0.00013
|
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
|
rs369935445
|
0.00013
|
NM_138413.4(HOGA1):c.*290G>A
|
rs144890621
|
0.00013
|
NM_175914.5(HNF4A):c.*1363C>T
|
rs769165584
|
0.00013
|
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)
|
rs148907696
|
0.00013
|
NM_000046.3(ARSB):c.-848C>T
|
rs571164401
|
0.00012
|
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)
|
rs201209052
|
0.00012
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
NM_000293.3(PHKB):c.1350C>T (p.Ile450=)
|
rs199941695
|
0.00012
|
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)
|
rs151033581
|
0.00012
|
NM_000298.6(PKLR):c.1117-13C>T
|
rs145132664
|
0.00012
|
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
|
rs147453689
|
0.00012
|
NM_000528.4(MAN2B1):c.*91C>T
|
rs145108101
|
0.00012
|
NM_001041.4(SI):c.2159+12G>A
|
rs376831754
|
0.00012
|
NM_001041.4(SI):c.4849G>C (p.Asp1617His)
|
rs202225928
|
0.00012
|
NM_001352514.2(HLCS):c.*1827C>A
|
rs768653798
|
0.00012
|
NM_001352514.2(HLCS):c.*2555T>C
|
rs79868396
|
0.00012
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
NM_002076.4(GNS):c.*2612G>T
|
rs533328232
|
0.00012
|
NM_006516.4(SLC2A1):c.*1016A>G
|
rs886046334
|
0.00012
|
NM_016219.5(MAN1B1):c.768C>T (p.Val256=)
|
rs145906530
|
0.00012
|
NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser)
|
rs763793795
|
0.00012
|
NM_021957.4(GYS2):c.630G>A (p.Gly210=)
|
rs201503558
|
0.00012
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
NM_000030.3(AGXT):c.1071+12C>T
|
rs375775541
|
0.00011
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
NM_000030.3(AGXT):c.885G>A (p.Ala295=)
|
rs377132245
|
0.00011
|
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
NM_000035.4(ALDOB):c.*819A>C
|
rs780375040
|
0.00011
|
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys)
|
rs201397971
|
0.00011
|
NM_000046.4(ARSB):c.-187G>A
|
rs529476939
|
0.00011
|
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp)
|
rs536478616
|
0.00011
|
NM_000155.4(GALT):c.378-12G>A
|
rs151309174
|
0.00011
|
NM_000158.4(GBE1):c.*226T>C
|
rs748963117
|
0.00011
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
NM_000162.5(GCK):c.649G>A (p.Asp217Asn)
|
rs147065275
|
0.00011
|
NM_000162.5(GCK):c.666C>T (p.Val222=)
|
rs193922318
|
0.00011
|
NM_000199.5(SGSH):c.*126G>A
|
rs546128310
|
0.00011
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_000289.6(PFKM):c.*3C>T
|
rs367783282
|
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_000293.3(PHKB):c.*741G>A
|
rs1041235488
|
0.00011
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00011
|
NM_000308.4(CTSA):c.*320G>A
|
rs568876316
|
0.00011
|
NM_000343.4(SLC5A1):c.312+3G>A
|
rs200776237
|
0.00011
|
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
|
rs33918436
|
0.00011
|
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met)
|
rs150316347
|
0.00011
|
NM_000352.6(ABCC8):c.4119+15C>T
|
rs58368439
|
0.00011
|
NM_000404.4(GLB1):c.1562G>A (p.Cys521Tyr)
|
rs186781398
|
0.00011
|
NM_000507.4(FBP1):c.*152C>T
|
rs190431674
|
0.00011
|
NM_000507.4(FBP1):c.-130C>A
|
rs1003899519
|
0.00011
|
NM_000642.3(AGL):c.*1103A>G
|
rs138743315
|
0.00011
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
NM_000925.3(PDHB):c.-49T>C
|
rs373907802
|
0.00011
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
NM_001040716.2(PC):c.3473G>A (p.Arg1158His)
|
rs149054698
|
0.00011
|
NM_001040716.2(PC):c.904-11C>T
|
rs200473405
|
0.00011
|
NM_001041.4(SI):c.118+10A>G
|
rs200646132
|
0.00011
|
NM_001041.4(SI):c.2599T>C (p.Tyr867His)
|
rs140230726
|
0.00011
|
NM_001041.4(SI):c.4458G>A (p.Thr1486=)
|
rs140287192
|
0.00011
|
NM_001164277.2(SLC37A4):c.*31C>T
|
rs564775174
|
0.00011
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
NM_001715.3(BLK):c.-76G>A
|
rs957686517
|
0.00011
|
NM_002076.4(GNS):c.*2843C>T
|
rs577545481
|
0.00011
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
NM_002103.5(GYS1):c.*824del
|
rs886054565
|
0.00011
|
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)
|
rs200672892
|
0.00011
|
NM_002294.3(LAMP2):c.*975A>G
|
rs1179268991
|
0.00011
|
NM_002299.4(LCT):c.21A>G (p.Val7=)
|
rs377228457
|
0.00011
|
NM_002299.4(LCT):c.5656G>A (p.Val1886Ile)
|
rs376732886
|
0.00011
|
NM_002500.4(NEUROD1):c.*1601C>A
|
rs929497632
|
0.00011
|
NM_002591.4(PCK1):c.1211C>T (p.Ser404Leu)
|
rs149472972
|
0.00011
|
NM_002591.4(PCK1):c.521C>T (p.Thr174Met)
|
rs199822253
|
0.00011
|
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys)
|
rs144583035
|
0.00011
|
NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr)
|
rs141627694
|
0.00011
|
NM_003051.4(SLC16A1):c.*603T>C
|
rs527658261
|
0.00011
|
NM_003597.5(KLF11):c.*166C>T
|
rs531131204
|
0.00011
|
NM_003619.4(PRSS12):c.*604A>C
|
rs551930250
|
0.00011
|
NM_005327.7(HADH):c.*142G>A
|
rs560215584
|
0.00011
|
NM_005908.4(MANBA):c.*172G>A
|
rs146374185
|
0.00011
|
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)
|
rs781584789
|
0.00011
|
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val)
|
rs150805048
|
0.00011
|
NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln)
|
rs146603229
|
0.00011
|
NM_016042.4(EXOSC3):c.*402C>T
|
rs567641975
|
0.00011
|
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val)
|
rs144672735
|
0.00011
|
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg)
|
rs372680556
|
0.00011
|
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys)
|
rs373430024
|
0.00011
|
NM_138413.4(HOGA1):c.700+9C>T
|
rs375091787
|
0.00011
|
NM_144563.3(RPIA):c.789C>T (p.Asp263=)
|
rs368582524
|
0.00011
|
NM_175914.5(HNF4A):c.*2374G>C
|
rs373068234
|
0.00011
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00011
|
NM_000046.5(ARSB):c.*1373A>G
|
rs146584784
|
0.00010
|
NM_000147.5(FUCA1):c.825A>T (p.Gly275=)
|
rs199675692
|
0.00010
|
NM_000151.4(G6PC1):c.*1652C>T
|
rs765883953
|
0.00010
|
NM_000152.5(GAA):c.-62A>C
|
rs367731841
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000199.5(SGSH):c.*471G>A
|
rs138717045
|
0.00010
|
NM_000199.5(SGSH):c.250-15C>T
|
rs369082713
|
0.00010
|
NM_000203.5(IDUA):c.1402+8G>A
|
rs1315308939
|
0.00010
|
NM_000207.3(INS):c.*28G>A
|
rs778107057
|
0.00010
|
NM_000262.3(NAGA):c.618G>A (p.Ala206=)
|
rs200770245
|
0.00010
|
NM_000289.6(PFKM):c.-17G>C
|
rs952485517
|
0.00010
|
NM_000293.3(PHKB):c.*345C>T
|
rs757393313
|
0.00010
|
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys)
|
rs201217052
|
0.00010
|
NM_000293.3(PHKB):c.714G>A (p.Ser238=)
|
rs772326970
|
0.00010
|
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)
|
rs375189218
|
0.00010
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser)
|
rs745797890
|
0.00010
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
0.00010
|
NM_000352.6(ABCC8):c.723C>T (p.His241=)
|
rs147276708
|
0.00010
|
NM_000365.6(TPI1):c.-11G>A
|
rs199634350
|
0.00010
|
NM_000404.4(GLB1):c.1480-8C>G
|
rs753129246
|
0.00010
|
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met)
|
rs1803198
|
0.00010
|
NM_000507.4(FBP1):c.-59A>T
|
rs913996916
|
0.00010
|
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu)
|
rs759615686
|
0.00010
|
NM_000642.3(AGL):c.*1224C>T
|
rs12563807
|
0.00010
|
NM_000642.3(AGL):c.*1691A>G
|
rs886044933
|
0.00010
|
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg)
|
rs148930543
|
0.00010
|
NM_000891.3(KCNJ2):c.*2875_*2876del
|
rs561353262
|
0.00010
|
NM_000891.3(KCNJ2):c.*3409A>G
|
rs551384883
|
0.00010
|
NM_001008216.2(GALE):c.*192T>C
|
rs576468712
|
0.00010
|
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)
|
rs542486536
|
0.00010
|
NM_001008216.2(GALE):c.647C>T (p.Ala216Val)
|
rs542192037
|
0.00010
|
NM_001040716.2(PC):c.*185G>A
|
rs573667993
|
0.00010
|
NM_001040716.2(PC):c.2224-14C>T
|
rs780315450
|
0.00010
|
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)
|
rs138927818
|
0.00010
|
NM_001352514.2(HLCS):c.*1594A>G
|
rs776064678
|
0.00010
|
NM_001365304.2(LOC112694756):c.*1676T>G
|
rs886051895
|
0.00010
|
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser)
|
rs143084654
|
0.00010
|
NM_001715.3(BLK):c.*229G>C
|
rs1045306871
|
0.00010
|
NM_002591.4(PCK1):c.858C>T (p.Ser286=)
|
rs150928523
|
0.00010
|
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter)
|
rs149096315
|
0.00010
|
NM_003051.4(SLC16A1):c.*1801A>G
|
rs750135904
|
0.00010
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
NM_003477.3(PDHX):c.*259G>T
|
rs771515806
|
0.00010
|
NM_003477.3(PDHX):c.*650G>A
|
rs886048249
|
0.00010
|
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln)
|
rs149337104
|
0.00010
|
NM_003597.5(KLF11):c.*1386A>G
|
rs886054732
|
0.00010
|
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp)
|
rs201005601
|
0.00010
|
NM_003619.4(PRSS12):c.2320+6G>C
|
rs369283461
|
0.00010
|
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)
|
rs200481790
|
0.00010
|
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)
|
rs139230055
|
0.00010
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)
|
rs199565370
|
0.00010
|
NM_006488.3(KHK):c.470A>C (p.Asn157Thr)
|
rs150233686
|
0.00010
|
NM_006516.4(SLC2A1):c.*587A>T
|
rs748209315
|
0.00010
|
NM_016042.4(EXOSC3):c.*63T>G
|
rs753180747
|
0.00010
|
NM_017755.6(NSUN2):c.1458T>C (p.His486=)
|
rs200925761
|
0.00010
|
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr)
|
rs116527624
|
0.00010
|
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly)
|
rs773104757
|
0.00010
|
NM_000035.4(ALDOB):c.*568G>A
|
rs978202633
|
0.00009
|
NM_000035.4(ALDOB):c.127C>T (p.Arg43Cys)
|
rs772473508
|
0.00009
|
NM_000046.5(ARSB):c.*2672A>G
|
rs886060780
|
0.00009
|
NM_000108.5(DLD):c.*1877A>G
|
rs182010485
|
0.00009
|
NM_000151.4(G6PC1):c.*1324C>T
|
rs548787621
|
0.00009
|
NM_000162.5(GCK):c.393C>T (p.Ser131=)
|
rs139139350
|
0.00009
|
NM_000181.4(GUSB):c.-10A>T
|
rs540793200
|
0.00009
|
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)
|
rs751604358
|
0.00009
|
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)
|
rs377605690
|
0.00009
|
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
|
rs142729872
|
0.00009
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met)
|
rs777479452
|
0.00009
|
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)
|
rs144211929
|
0.00009
|
NM_000340.2(SLC2A2):c.*170G>A
|
rs528459194
|
0.00009
|
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)
|
rs751917665
|
0.00009
|
NM_000434.4(NEU1):c.*294G>A
|
rs908745663
|
0.00009
|
NM_000434.4(NEU1):c.1107C>A (p.Gly369=)
|
rs150864071
|
0.00009
|
NM_000525.4(KCNJ11):c.*218G>T
|
rs886048039
|
0.00009
|
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=)
|
rs777286610
|
0.00009
|
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)
|
rs3745649
|
0.00009
|
NM_000642.3(AGL):c.*1720A>C
|
rs111689090
|
0.00009
|
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala)
|
rs761479006
|
0.00009
|
NM_000891.3(KCNJ2):c.-195C>G
|
rs544342049
|
0.00009
|
NM_001041.4(SI):c.*217A>C
|
rs577252976
|
0.00009
|
NM_001041.4(SI):c.749G>A (p.Arg250His)
|
rs530009542
|
0.00009
|
NM_001160372.4(TRAPPC9):c.2556+7T>G
|
rs185632960
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
0.00009
|
NM_001360016.2(G6PD):c.*25C>T
|
rs781866772
|
0.00009
|
NM_001365304.2(LOC112694756):c.*1705G>A
|
rs539833998
|
0.00009
|
NM_001715.3(BLK):c.620-11C>T
|
rs764915190
|
0.00009
|
NM_002076.4(GNS):c.*2656G>A
|
rs577212739
|
0.00009
|
NM_002076.4(GNS):c.624+10A>G
|
rs757526895
|
0.00009
|
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn)
|
rs573897595
|
0.00009
|
NM_002103.5(GYS1):c.1305G>A (p.Thr435=)
|
rs147610727
|
0.00009
|
NM_002294.3(LAMP2):c.*4763A>T
|
rs761928368
|
0.00009
|
NM_002299.4(LCT):c.2293C>A (p.Leu765Ile)
|
rs374623829
|
0.00009
|
NM_002299.4(LCT):c.2310A>C (p.Leu770Phe)
|
rs148593528
|
0.00009
|
NM_002591.4(PCK1):c.102C>T (p.Asn34=)
|
rs200771350
|
0.00009
|
NM_002591.4(PCK1):c.538G>A (p.Val180Ile)
|
rs367998997
|
0.00009
|
NM_002637.4(PHKA1):c.*1303T>C
|
rs782190105
|
0.00009
|
NM_002637.4(PHKA1):c.*674A>C
|
rs1028190311
|
0.00009
|
NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=)
|
rs143874850
|
0.00009
|
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly)
|
rs146456454
|
0.00009
|
NM_003597.5(KLF11):c.1077G>A (p.Met359Ile)
|
rs146486664
|
0.00009
|
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro)
|
rs776725808
|
0.00009
|
NM_005327.7(HADH):c.-34C>T
|
rs748286204
|
0.00009
|
NM_005566.4(LDHA):c.57C>T (p.Pro19=)
|
rs11553870
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.540C>T (p.Ala180=)
|
rs148731983
|
0.00009
|
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser)
|
rs115690781
|
0.00009
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
NM_006516.4(SLC2A1):c.*651G>T
|
rs886046337
|
0.00009
|
NM_006516.4(SLC2A1):c.*784A>G
|
rs886046335
|
0.00009
|
NM_015957.4(APIP):c.-18G>A
|
rs761199870
|
0.00009
|
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met)
|
rs150734795
|
0.00009
|
NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val)
|
rs375624381
|
0.00009
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
NM_138413.4(HOGA1):c.*1047T>C
|
rs537101942
|
0.00009
|
NM_144563.3(RPIA):c.57C>T (p.Pro19=)
|
rs780586313
|
0.00009
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
NM_175914.5(HNF4A):c.*977C>G
|
rs367907885
|
0.00009
|
NM_175914.5(HNF4A):c.427-5C>T
|
rs374703326
|
0.00009
|
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
NM_000030.3(AGXT):c.567C>T (p.Gly189=)
|
rs373612587
|
0.00008
|
NM_000035.4(ALDOB):c.352G>A (p.Gly118Arg)
|
rs200382297
|
0.00008
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
|
rs369789056
|
0.00008
|
NM_000293.3(PHKB):c.*1783A>G
|
rs886052032
|
0.00008
|
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)
|
rs149685822
|
0.00008
|
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu)
|
rs368108194
|
0.00008
|
NM_000340.2(SLC2A2):c.*960T>G
|
rs971689457
|
0.00008
|
NM_000343.4(SLC5A1):c.*636A>G
|
rs932433422
|
0.00008
|
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met)
|
rs33975915
|
0.00008
|
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
|
rs200626260
|
0.00008
|
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)
|
rs377045545
|
0.00008
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu)
|
rs770317560
|
0.00008
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
NM_000404.4(GLB1):c.1601A>G (p.His534Arg)
|
rs770982909
|
0.00008
|
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp)
|
rs201600797
|
0.00008
|
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)
|
rs142797984
|
0.00008
|
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)
|
rs558217174
|
0.00008
|
NM_001041.4(SI):c.3331A>G (p.Ile1111Val)
|
rs145913658
|
0.00008
|
NM_001041.4(SI):c.801T>C (p.Pro267=)
|
rs752564085
|
0.00008
|
NM_001041.4(SI):c.808-14T>A
|
rs762854920
|
0.00008
|
NM_001352514.2(HLCS):c.*1085G>A
|
rs531457233
|
0.00008
|
NM_001360016.2(G6PD):c.120+7A>C
|
rs369904290
|
0.00008
|
NM_001360016.2(G6PD):c.1287+3G>C
|
rs782786750
|
0.00008
|
NM_001365304.2(LOC112694756):c.*622-5C>T
|
rs752764982
|
0.00008
|
NM_001366110.1(PAX4):c.14-51G>A
|
rs878919319
|
0.00008
|
NM_001715.3(BLK):c.-124C>T
|
rs886062593
|
0.00008
|
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile)
|
rs755299574
|
0.00008
|
NM_002591.4(PCK1):c.1320T>C (p.Gly440=)
|
rs140553751
|
0.00008
|
NM_003041.4(SLC5A2):c.*70C>G
|
rs867270650
|
0.00008
|
NM_003041.4(SLC5A2):c.469-3A>T
|
rs369221516
|
0.00008
|
NM_003477.2(PDHX):c.-162C>A
|
rs759318998
|
0.00008
|
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu)
|
rs145588324
|
0.00008
|
NM_005271.5(GLUD1):c.*998C>T
|
rs766730554
|
0.00008
|
NM_005327.7(HADH):c.*305T>A
|
rs3822294
|
0.00008
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
NM_005609.4(PYGM):c.1110G>A (p.Val370=)
|
rs372719040
|
0.00008
|
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe)
|
rs201779762
|
0.00008
|
NM_006755.2(TALDO1):c.-6C>T
|
rs762014857
|
0.00008
|
NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu)
|
rs144914498
|
0.00008
|
NM_012203.2(GRHPR):c.543G>C (p.Leu181=)
|
rs370395134
|
0.00008
|
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu)
|
rs185747820
|
0.00008
|
NM_016042.4(EXOSC3):c.*611A>G
|
rs939514834
|
0.00008
|
NM_017755.6(NSUN2):c.*202C>T
|
rs932103254
|
0.00008
|
NM_017755.6(NSUN2):c.*622T>A
|
rs757183970
|
0.00008
|
NM_138413.4(HOGA1):c.*550A>G
|
rs991121870
|
0.00008
|
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys)
|
rs201735532
|
0.00008
|
NM_153281.2(HYAL1):c.-90C>T
|
rs886058694
|
0.00008
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_000035.4(ALDOB):c.*503T>C
|
rs954756064
|
0.00007
|
NM_000108.5(DLD):c.*1505C>T
|
rs1053262850
|
0.00007
|
NM_000151.4(G6PC1):c.*680G>A
|
rs973632286
|
0.00007
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)
|
rs149248428
|
0.00007
|
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
|
rs201895474
|
0.00007
|
NM_000352.3(ABCC8):c.-113G>A
|
rs886048056
|
0.00007
|
NM_000545.8(HNF1A):c.42G>A (p.Ala14=)
|
rs775391034
|
0.00007
|
NM_000642.3(AGL):c.*292A>G
|
rs541731841
|
0.00007
|
NM_000642.3(AGL):c.*400T>C
|
rs541803127
|
0.00007
|
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)
|
rs202046937
|
0.00007
|
NM_000891.3(KCNJ2):c.*2616A>G
|
rs542407766
|
0.00007
|
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)
|
rs766734350
|
0.00007
|
NM_001352514.2(HLCS):c.*2416C>T
|
rs566088233
|
0.00007
|
NM_001370658.1(BTD):c.-65G>T
|
rs199516128
|
0.00007
|
NM_002294.3(LAMP2):c.*1191A>T
|
rs1004327482
|
0.00007
|
NM_002294.3(LAMP2):c.*4004C>T
|
rs1001857275
|
0.00007
|
NM_002294.3(LAMP2):c.*4006G>T
|
rs905784906
|
0.00007
|
NM_002300.8(LDHB):c.130-8G>A
|
rs369064312
|
0.00007
|
NM_002863.5(PYGL):c.1092+11T>G
|
rs781337096
|
0.00007
|
NM_003041.4(SLC5A2):c.1455C>T (p.Ala485=)
|
rs201859484
|
0.00007
|
NM_003477.2(PDHX):c.-155G>A
|
rs886048246
|
0.00007
|
NM_003597.5(KLF11):c.*1301C>G
|
rs886054731
|
0.00007
|
NM_003597.5(KLF11):c.*217G>T
|
rs201145049
|
0.00007
|
NM_003597.5(KLF11):c.266C>T (p.Ala89Val)
|
rs766187124
|
0.00007
|
NM_003619.4(PRSS12):c.*1660T>C
|
rs372099887
|
0.00007
|
NM_003619.4(PRSS12):c.936C>T (p.Ala312=)
|
rs12505679
|
0.00007
|
NM_006516.2(SLC2A1):c.-510G>C
|
rs886046347
|
0.00007
|
NM_006516.4(SLC2A1):c.*560T>C
|
rs545613558
|
0.00007
|
NM_006516.4(SLC2A1):c.*609G>C
|
rs1020397288
|
0.00007
|
NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln)
|
rs186015859
|
0.00007
|
NM_016219.5(MAN1B1):c.1065+11T>C
|
rs200147487
|
0.00007
|
NM_053013.4(ENO3):c.1235+7C>T
|
rs759839410
|
0.00007
|
NM_138413.4(HOGA1):c.*186C>T
|
rs576078709
|
0.00007
|
NM_152419.3(HGSNAT):c.*1215C>T
|
rs571287184
|
0.00007
|
NM_152419.3(HGSNAT):c.*1854C>T
|
rs567024411
|
0.00007
|
NM_152419.3(HGSNAT):c.*851A>G
|
rs192792114
|
0.00007
|
NM_175914.5(HNF4A):c.*3018G>A
|
rs533361991
|
0.00007
|
NM_198586.3(NHLRC1):c.*797A>G
|
rs886061250
|
0.00007
|
NM_000027.4(AGA):c.*207T>C
|
rs546644917
|
0.00006
|
NM_000027.4(AGA):c.623-13T>G
|
rs778434616
|
0.00006
|
NM_000027.4(AGA):c.794G>A (p.Arg265His)
|
rs375663828
|
0.00006
|
NM_000030.3(AGXT):c.*160G>A
|
rs776483024
|
0.00006
|
NM_000030.3(AGXT):c.214A>C (p.Asn72His)
|
rs754637713
|
0.00006
|
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)
|
rs202062631
|
0.00006
|
NM_000046.5(ARSB):c.*1513C>T
|
rs886060786
|
0.00006
|
NM_000046.5(ARSB):c.*2287C>T
|
rs886060782
|
0.00006
|
NM_000046.5(ARSB):c.*2684G>A
|
rs188859845
|
0.00006
|
NM_000046.5(ARSB):c.*635C>G
|
rs534480571
|
0.00006
|
NM_000046.5(ARSB):c.550A>G (p.Ile184Val)
|
rs371812342
|
0.00006
|
NM_000151.4(G6PC1):c.*119C>T
|
rs886052957
|
0.00006
|
NM_000151.4(G6PC1):c.*2311C>T
|
rs372226654
|
0.00006
|
NM_000151.4(G6PC1):c.*607G>A
|
rs886052960
|
0.00006
|
NM_000151.4(G6PC1):c.18T>C (p.Asn6=)
|
rs144652516
|
0.00006
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000154.2(GALK1):c.165+6G>A
|
rs779996721
|
0.00006
|
NM_000154.2(GALK1):c.267G>T (p.Gln89His)
|
rs144915547
|
0.00006
|
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp)
|
rs541580127
|
0.00006
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
|
rs143994870
|
0.00006
|
NM_000158.4(GBE1):c.*460C>T
|
rs771301034
|
0.00006
|
NM_000158.4(GBE1):c.*558T>C
|
rs886058899
|
0.00006
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
NM_000162.5(GCK):c.363+10G>A
|
rs758495950
|
0.00006
|
NM_000199.5(SGSH):c.*834A>G
|
rs1022741298
|
0.00006
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys)
|
rs145645179
|
0.00006
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
NM_000207.3(INS):c.*2C>T
|
rs200306755
|
0.00006
|
NM_000207.3(INS):c.*42C>T
|
rs376867722
|
0.00006
|
NM_000262.3(NAGA):c.*1501C>G
|
rs750373836
|
0.00006
|
NM_000262.3(NAGA):c.*55C>T
|
rs1004630693
|
0.00006
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000284.4(PDHA1):c.*1347C>T
|
rs1241045421
|
0.00006
|
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln)
|
rs147126221
|
0.00006
|
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu)
|
rs151308911
|
0.00006
|
NM_000293.3(PHKB):c.*1839C>G
|
rs981081630
|
0.00006
|
NM_000293.3(PHKB):c.*1915A>G
|
rs919228154
|
0.00006
|
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)
|
rs200274360
|
0.00006
|
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe)
|
rs370363309
|
0.00006
|
NM_000294.3(PHKG2):c.318G>T (p.Val106=)
|
rs199743139
|
0.00006
|
NM_000308.4(CTSA):c.769G>A (p.Val257Met)
|
rs745752655
|
0.00006
|
NM_000343.4(SLC5A1):c.*1053G>A
|
rs376345201
|
0.00006
|
NM_000343.4(SLC5A1):c.*1559C>T
|
rs372572143
|
0.00006
|
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val)
|
rs201216997
|
0.00006
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)
|
rs531684936
|
0.00006
|
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)
|
rs373478721
|
0.00006
|
NM_000352.6(ABCC8):c.621C>T (p.Pro207=)
|
rs765043940
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp)
|
rs773087569
|
0.00006
|
NM_000365.6(TPI1):c.*253G>T
|
rs782730165
|
0.00006
|
NM_000404.4(GLB1):c.*44C>T
|
rs199659949
|
0.00006
|
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys)
|
rs766214522
|
0.00006
|
NM_000458.4(HNF1B):c.*701G>A
|
rs886052888
|
0.00006
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)
|
rs371459975
|
0.00006
|
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
|
rs148709901
|
0.00006
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
NM_000512.5(GALNS):c.921G>T (p.Leu307=)
|
rs201986622
|
0.00006
|
NM_000525.4(KCNJ11):c.*1055T>A
|
rs886048032
|
0.00006
|
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met)
|
rs529884745
|
0.00006
|
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)
|
rs762152042
|
0.00006
|
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys)
|
rs142248782
|
0.00006
|
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp)
|
rs376832928
|
0.00006
|
NM_000545.8(HNF1A):c.99G>A (p.Pro33=)
|
rs538619966
|
0.00006
|
NM_000642.3(AGL):c.*1075T>A
|
rs886044931
|
0.00006
|
NM_000642.3(AGL):c.*1952C>T
|
rs886044934
|
0.00006
|
NM_000642.3(AGL):c.*99del
|
rs886044923
|
0.00006
|
NM_000642.3(AGL):c.-95A>G
|
rs937844168
|
0.00006
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
NM_000642.3(AGL):c.847-7T>A
|
rs750785301
|
0.00006
|
NM_000891.3(KCNJ2):c.*2065A>G
|
rs778894111
|
0.00006
|
NM_000891.3(KCNJ2):c.*3353C>T
|
rs886053346
|
0.00006
|
NM_000925.4(PDHB):c.*173C>T
|
rs546485141
|
0.00006
|
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)
|
rs201105914
|
0.00006
|
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)
|
rs370248734
|
0.00006
|
NM_001041.4(SI):c.4873T>G (p.Phe1625Val)
|
rs149414344
|
0.00006
|
NM_001041.4(SI):c.748C>T (p.Arg250Cys)
|
rs200745562
|
0.00006
|
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln)
|
rs78735156
|
0.00006
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
NM_001352514.2(HLCS):c.*168G>T
|
rs118099059
|
0.00006
|
NM_001352514.2(HLCS):c.*3253C>T
|
rs529403596
|
0.00006
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
NM_001366110.1(PAX4):c.572G>A (p.Arg191His)
|
rs145284016
|
0.00006
|
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys)
|
rs770633850
|
0.00006
|
NM_001715.3(BLK):c.*324G>A
|
rs886062600
|
0.00006
|
NM_002076.4(GNS):c.876-13T>C
|
rs543570530
|
0.00006
|
NM_002103.4(GYS1):c.-199T>C
|
rs770497351
|
0.00006
|
NM_002103.5(GYS1):c.*1044T>G
|
rs886054564
|
0.00006
|
NM_002103.5(GYS1):c.*659C>T
|
rs367578611
|
0.00006
|
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys)
|
rs1003071543
|
0.00006
|
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
|
rs377125421
|
0.00006
|
NM_002294.3(LAMP2):c.*3689T>C
|
rs975386272
|
0.00006
|
NM_002294.3(LAMP2):c.*721A>C
|
rs887326511
|
0.00006
|
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp)
|
rs377102890
|
0.00006
|
NM_002299.4(LCT):c.4760G>A (p.Arg1587His)
|
rs146614143
|
0.00006
|
NM_002299.4(LCT):c.4761C>T (p.Arg1587=)
|
rs573401319
|
0.00006
|
NM_002300.8(LDHB):c.585C>T (p.Gly195=)
|
rs141629567
|
0.00006
|
NM_002500.5(NEUROD1):c.*907T>C
|
rs747758950
|
0.00006
|
NM_002591.4(PCK1):c.228G>T (p.Trp76Cys)
|
rs139008325
|
0.00006
|
NM_002591.4(PCK1):c.651G>A (p.Thr217=)
|
rs777897405
|
0.00006
|
NM_002637.4(PHKA1):c.*1151C>T
|
rs782605900
|
0.00006
|
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)
|
rs17721570
|
0.00006
|
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)
|
rs756205397
|
0.00006
|
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala)
|
rs371605092
|
0.00006
|
NM_003051.4(SLC16A1):c.*946G>A
|
rs867810008
|
0.00006
|
NM_003384.3(VRK1):c.*107A>G
|
rs375987917
|
0.00006
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
NM_003597.5(KLF11):c.1137C>G (p.Ser379Arg)
|
rs199624763
|
0.00006
|
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg)
|
rs200061013
|
0.00006
|
NM_005271.5(GLUD1):c.1279-6G>A
|
rs374548261
|
0.00006
|
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)
|
rs756259685
|
0.00006
|
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)
|
rs373705613
|
0.00006
|
NM_005327.7(HADH):c.*335C>A
|
rs780532720
|
0.00006
|
NM_005566.4(LDHA):c.*311C>T
|
rs200079157
|
0.00006
|
NM_005566.4(LDHA):c.406G>A (p.Val136Ile)
|
rs184074326
|
0.00006
|
NM_005609.4(PYGM):c.1239+12G>A
|
rs760471706
|
0.00006
|
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)
|
rs140102591
|
0.00006
|
NM_006488.3(KHK):c.-97G>A
|
rs886055885
|
0.00006
|
NM_006488.3(KHK):c.210-199T>C
|
rs201650300
|
0.00006
|
NM_006488.3(KHK):c.210-334C>T
|
rs368871098
|
0.00006
|
NM_006488.3(KHK):c.687C>T (p.Gly229=)
|
rs142428157
|
0.00006
|
NM_006488.3(KHK):c.688G>A (p.Ala230Thr)
|
rs745997707
|
0.00006
|
NM_006516.4(SLC2A1):c.*750T>A
|
rs886046336
|
0.00006
|
NM_006516.4(SLC2A1):c.18+12G>T
|
rs587781171
|
0.00006
|
NM_006721.4(ADK):c.66-23885T>A
|
rs370191448
|
0.00006
|
NM_006721.4(ADK):c.66-23966T>C
|
rs886047235
|
0.00006
|
NM_006755.2(TALDO1):c.*12G>A
|
rs369845141
|
0.00006
|
NM_012434.5(SLC17A5):c.*1692G>A
|
rs540786941
|
0.00006
|
NM_016219.5(MAN1B1):c.*113G>A
|
rs762819985
|
0.00006
|
NM_016219.5(MAN1B1):c.*86C>T
|
rs771691552
|
0.00006
|
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser)
|
rs375378489
|
0.00006
|
NM_016219.5(MAN1B1):c.1765-9C>T
|
rs977693376
|
0.00006
|
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile)
|
rs143449562
|
0.00006
|
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)
|
rs182582633
|
0.00006
|
NM_022895.3(C12orf43):c.*2570C>G
|
rs868177605
|
0.00006
|
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln)
|
rs374011925
|
0.00006
|
NM_080749.4(NEURL2):c.-64C>T
|
rs566739434
|
0.00006
|
NM_138413.4(HOGA1):c.424C>T (p.Arg142Cys)
|
rs201450556
|
0.00006
|
NM_138413.4(HOGA1):c.828C>T (p.Asn276=)
|
rs201683794
|
0.00006
|
NM_144563.3(RPIA):c.*15G>A
|
rs375899017
|
0.00006
|
NM_144563.3(RPIA):c.706G>A (p.Val236Met)
|
rs752477415
|
0.00006
|
NM_152419.3(HGSNAT):c.*1064A>G
|
rs886062958
|
0.00006
|
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)
|
rs371469177
|
0.00006
|
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)
|
rs761054871
|
0.00006
|
NM_175914.5(HNF4A):c.*1821C>T
|
rs886056686
|
0.00006
|
NM_175914.5(HNF4A):c.321C>T (p.Ala107=)
|
rs138290205
|
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_000147.5(FUCA1):c.936G>A (p.Leu312=)
|
rs140932886
|
0.00005
|
NM_000151.4(G6PC1):c.*103C>T
|
rs1032152255
|
0.00005
|
NM_000151.4(G6PC1):c.*1313A>G
|
rs886052962
|
0.00005
|
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn)
|
rs750711451
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
|
rs373041566
|
0.00005
|
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp)
|
rs370987432
|
0.00005
|
NM_000155.4(GALT):c.611G>A (p.Arg204Gln)
|
rs111033740
|
0.00005
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
NM_000181.4(GUSB):c.211-8C>G
|
rs2293340
|
0.00005
|
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)
|
rs11559281
|
0.00005
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn)
|
rs375068243
|
0.00005
|
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
|
rs539019626
|
0.00005
|
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
|
rs745607005
|
0.00005
|
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
|
rs148544344
|
0.00005
|
NM_000293.3(PHKB):c.*1709G>A
|
rs1007478681
|
0.00005
|
NM_000293.3(PHKB):c.1972-7G>A
|
rs765332910
|
0.00005
|
NM_000294.3(PHKG2):c.556+5G>T
|
rs369684098
|
0.00005
|
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)
|
rs374805791
|
0.00005
|
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp)
|
rs774192277
|
0.00005
|
NM_000340.2(SLC2A2):c.*726T>C
|
rs886058172
|
0.00005
|
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=)
|
rs376255565
|
0.00005
|
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=)
|
rs144581584
|
0.00005
|
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)
|
rs761748692
|
0.00005
|
NM_000404.4(GLB1):c.1069-4A>G
|
rs781267265
|
0.00005
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
NM_000642.3(AGL):c.*395C>T
|
rs886044925
|
0.00005
|
NM_000642.3(AGL):c.-104C>T
|
rs982037804
|
0.00005
|
NM_000642.3(AGL):c.1065G>A (p.Thr355=)
|
rs764914308
|
0.00005
|
NM_000891.3(KCNJ2):c.*709A>G
|
rs950748341
|
0.00005
|
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser)
|
rs139242990
|
0.00005
|
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)
|
rs140878602
|
0.00005
|
NM_001040716.2(PC):c.1233C>T (p.Ser411=)
|
rs747247743
|
0.00005
|
NM_001040716.2(PC):c.1368+11G>A
|
rs371731636
|
0.00005
|
NM_001040716.2(PC):c.1514-6C>T
|
rs745563711
|
0.00005
|
NM_001040716.2(PC):c.751+13G>A
|
rs374607634
|
0.00005
|
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)
|
rs199881454
|
0.00005
|
NM_001041.4(SI):c.627T>C (p.Gly209=)
|
rs370540330
|
0.00005
|
NM_001164277.2(SLC37A4):c.-64C>T
|
rs150026242
|
0.00005
|
NM_001352514.2(HLCS):c.*1756C>T
|
rs748180401
|
0.00005
|
NM_001352514.2(HLCS):c.*1953A>G
|
rs767162730
|
0.00005
|
NM_001352514.2(HLCS):c.*2945C>T
|
rs71332549
|
0.00005
|
NM_001352514.2(HLCS):c.*490C>T
|
rs376741921
|
0.00005
|
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
|
rs200629955
|
0.00005
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)
|
rs144084212
|
0.00005
|
NM_001715.3(BLK):c.*376C>T
|
rs886062601
|
0.00005
|
NM_002076.4(GNS):c.*2278A>C
|
rs1036841344
|
0.00005
|
NM_002076.4(GNS):c.*2844G>A
|
rs534118009
|
0.00005
|
NM_002103.5(GYS1):c.*395C>T
|
rs112850979
|
0.00005
|
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)
|
rs574739791
|
0.00005
|
NM_002294.3(LAMP2):c.*1672C>T
|
rs1024440041
|
0.00005
|
NM_002294.3(LAMP2):c.*2538A>C
|
rs1057515739
|
0.00005
|
NM_002299.4(LCT):c.4173+5G>A
|
rs575414951
|
0.00005
|
NM_002591.4(PCK1):c.747G>A (p.Arg249=)
|
rs377356631
|
0.00005
|
NM_002637.4(PHKA1):c.*467T>C
|
rs970811941
|
0.00005
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
|
rs1033726905
|
0.00005
|
NM_002863.5(PYGL):c.1093-11C>G
|
rs768745213
|
0.00005
|
NM_002863.5(PYGL):c.1884A>G (p.Ala628=)
|
rs374560108
|
0.00005
|
NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=)
|
rs768523615
|
0.00005
|
NM_003051.4(SLC16A1):c.*657C>A
|
rs911644501
|
0.00005
|
NM_003477.3(PDHX):c.242-4G>A
|
rs199583315
|
0.00005
|
NM_003477.3(PDHX):c.402A>G (p.Glu134=)
|
rs768560478
|
0.00005
|
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln)
|
rs563767876
|
0.00005
|
NM_003597.5(KLF11):c.1304T>A (p.Phe435Tyr)
|
rs752588055
|
0.00005
|
NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln)
|
rs754704006
|
0.00005
|
NM_003619.4(PRSS12):c.480G>C (p.Trp160Cys)
|
rs753768799
|
0.00005
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val)
|
rs367692761
|
0.00005
|
NM_006488.3(KHK):c.19C>T (p.Leu7=)
|
rs750201072
|
0.00005
|
NM_006516.2(SLC2A1):c.-483G>T
|
rs886046346
|
0.00005
|
NM_006516.4(SLC2A1):c.*368A>C
|
rs946103123
|
0.00005
|
NM_006516.4(SLC2A1):c.*413G>A
|
rs543194486
|
0.00005
|
NM_013995.2(LAMP2):c.-154T>C
|
rs999307628
|
0.00005
|
NM_016219.5(MAN1B1):c.*185T>G
|
rs137960366
|
0.00005
|
NM_017755.6(NSUN2):c.*48C>T
|
rs374381984
|
0.00005
|
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln)
|
rs756450204
|
0.00005
|
NM_017755.6(NSUN2):c.862A>G (p.Thr288Ala)
|
rs373798103
|
0.00005
|
NM_021957.4(GYS2):c.1810-3T>C
|
rs375829709
|
0.00005
|
NM_033159.4(HYAL1):c.846G>A (p.Pro282=)
|
rs782094366
|
0.00005
|
NM_138413.4(HOGA1):c.*352T>C
|
rs545072905
|
0.00005
|
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln)
|
rs201145417
|
0.00005
|
NM_144563.3(RPIA):c.*29T>G
|
rs183747347
|
0.00005
|
NM_152419.3(HGSNAT):c.*1034G>A
|
rs886062957
|
0.00005
|
NM_152419.3(HGSNAT):c.*1436A>G
|
rs373032953
|
0.00005
|
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)
|
rs200238482
|
0.00005
|
NM_000030.3(AGXT):c.484G>A (p.Val162Met)
|
rs147497484
|
0.00004
|
NM_000030.3(AGXT):c.930C>T (p.Phe310=)
|
rs886055842
|
0.00004
|
NM_000035.4(ALDOB):c.401G>A (p.Arg134His)
|
rs145252200
|
0.00004
|
NM_000046.5(ARSB):c.*384T>A
|
rs970465323
|
0.00004
|
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
|
rs138643812
|
0.00004
|
NM_000046.5(ARSB):c.510G>C (p.Leu170=)
|
rs768312895
|
0.00004
|
NM_000108.5(DLD):c.*1876G>A
|
rs142001971
|
0.00004
|
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn)
|
rs781345107
|
0.00004
|
NM_000151.4(G6PC1):c.*1513C>T
|
rs374021788
|
0.00004
|
NM_000152.5(GAA):c.*264G>A
|
rs1219851042
|
0.00004
|
NM_000152.5(GAA):c.11G>A (p.Arg4Lys)
|
rs372147077
|
0.00004
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
|
rs371971763
|
0.00004
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
NM_000152.5(GAA):c.2330C>T (p.Thr777Met)
|
rs746779016
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000155.4(GALT):c.270T>C (p.Asp90=)
|
rs1300102277
|
0.00004
|
NM_000158.4(GBE1):c.*598G>C
|
rs886058898
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000158.4(GBE1):c.23C>T (p.Ala8Val)
|
rs759518868
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000162.5(GCK):c.*678G>T
|
rs555058443
|
0.00004
|
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
|
rs752523400
|
0.00004
|
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
|
rs546131174
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1134C>T (p.Ser378=)
|
rs771257931
|
0.00004
|
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys)
|
rs761780038
|
0.00004
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
NM_000203.5(IDUA):c.248G>A (p.Arg83His)
|
rs141461803
|
0.00004
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
NM_000262.3(NAGA):c.*1724C>G
|
rs892278914
|
0.00004
|
NM_000262.3(NAGA):c.-43C>T
|
rs753592199
|
0.00004
|
NM_000262.3(NAGA):c.324C>T (p.Tyr108=)
|
rs182798205
|
0.00004
|
NM_000262.3(NAGA):c.582C>T (p.Gly194=)
|
rs553977653
|
0.00004
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
|
rs144807822
|
0.00004
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp)
|
rs368258088
|
0.00004
|
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr)
|
rs147021608
|
0.00004
|
NM_000293.3(PHKB):c.185T>C (p.Leu62Pro)
|
rs773528597
|
0.00004
|
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
|
rs760502380
|
0.00004
|
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)
|
rs373915359
|
0.00004
|
NM_000298.6(PKLR):c.*342C>T
|
rs879040355
|
0.00004
|
NM_000298.6(PKLR):c.*346_*348del
|
rs556763356
|
0.00004
|
NM_000308.4(CTSA):c.1164+7G>A
|
rs775198775
|
0.00004
|
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr)
|
rs779275701
|
0.00004
|
NM_000308.4(CTSA):c.980T>C (p.Met327Thr)
|
rs140321228
|
0.00004
|
NM_000340.2(SLC2A2):c.*1303T>C
|
rs866750823
|
0.00004
|
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr)
|
rs776435170
|
0.00004
|
NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys)
|
rs779977931
|
0.00004
|
NM_000340.2(SLC2A2):c.612+10C>A
|
rs762632420
|
0.00004
|
NM_000343.3(SLC5A1):c.-51G>A
|
rs199663392
|
0.00004
|
NM_000343.4(SLC5A1):c.*334G>A
|
rs199902294
|
0.00004
|
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp)
|
rs200834101
|
0.00004
|
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=)
|
rs200849778
|
0.00004
|
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)
|
rs763794263
|
0.00004
|
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)
|
rs67767715
|
0.00004
|
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)
|
rs367862706
|
0.00004
|
NM_000365.6(TPI1):c.261C>T (p.Cys87=)
|
rs370863694
|
0.00004
|
NM_000404.4(GLB1):c.*224G>T
|
rs557844974
|
0.00004
|
NM_000404.4(GLB1):c.1348-7C>T
|
rs774732235
|
0.00004
|
NM_000434.4(NEU1):c.1170C>T (p.Tyr390=)
|
rs746607723
|
0.00004
|
NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp)
|
rs765074909
|
0.00004
|
NM_000507.3(FBP1):c.-246G>T
|
rs921192380
|
0.00004
|
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys)
|
rs199531187
|
0.00004
|
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)
|
rs28369761
|
0.00004
|
NM_000512.5(GALNS):c.*145C>T
|
rs539285988
|
0.00004
|
NM_000512.5(GALNS):c.*95T>A
|
rs536448022
|
0.00004
|
NM_000512.5(GALNS):c.97A>G (p.Ile33Val)
|
rs768296954
|
0.00004
|
NM_000528.3(MAN2B1):c.-73G>T
|
rs544325509
|
0.00004
|
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)
|
rs767199154
|
0.00004
|
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)
|
rs369071579
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-5C>T
|
rs200424566
|
0.00004
|
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn)
|
rs749183690
|
0.00004
|
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
|
rs766810849
|
0.00004
|
NM_000642.3(AGL):c.*562del
|
rs886044926
|
0.00004
|
NM_000642.3(AGL):c.*670A>G
|
rs886044927
|
0.00004
|
NM_000891.3(KCNJ2):c.*1320C>T
|
rs923732685
|
0.00004
|
NM_000891.3(KCNJ2):c.*1440A>T
|
rs886053332
|
0.00004
|
NM_000891.3(KCNJ2):c.*2508G>A
|
rs913851832
|
0.00004
|
NM_000891.3(KCNJ2):c.*2812T>C
|
rs886053344
|
0.00004
|
NM_000891.3(KCNJ2):c.-88C>T
|
rs886053322
|
0.00004
|
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)
|
rs766143485
|
0.00004
|
NM_001008216.2(GALE):c.*69G>A
|
rs543116262
|
0.00004
|
NM_001008216.2(GALE):c.-77+340G>C
|
rs568182391
|
0.00004
|
NM_001008216.2(GALE):c.319G>A (p.Val107Ile)
|
rs770332379
|
0.00004
|
NM_001008216.2(GALE):c.874-9G>A
|
rs764448821
|
0.00004
|
NM_001040716.2(PC):c.*188G>A
|
rs553630251
|
0.00004
|
NM_001040716.2(PC):c.2899-9G>A
|
rs372755874
|
0.00004
|
NM_001040716.2(PC):c.879C>T (p.Ser293=)
|
rs183131461
|
0.00004
|
NM_001041.4(SI):c.3760-7A>G
|
rs367956129
|
0.00004
|
NM_001041.4(SI):c.4692+12C>T
|
rs199581970
|
0.00004
|
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter)
|
rs779803851
|
0.00004
|
NM_001164277.2(SLC37A4):c.-183C>T
|
rs145369754
|
0.00004
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
NM_001352514.2(HLCS):c.*1089G>A
|
rs146991267
|
0.00004
|
NM_001352514.2(HLCS):c.*1094T>C
|
rs780432651
|
0.00004
|
NM_001352514.2(HLCS):c.*1097G>A
|
rs886057070
|
0.00004
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001715.3(BLK):c.-201G>A
|
rs1468476015
|
0.00004
|
NM_001715.3(BLK):c.-47C>T
|
rs150444590
|
0.00004
|
NM_001715.3(BLK):c.153G>A (p.Pro51=)
|
rs746710451
|
0.00004
|
NM_001715.3(BLK):c.639C>T (p.Cys213=)
|
rs779263158
|
0.00004
|
NM_001715.3(BLK):c.810G>A (p.Thr270=)
|
rs749767699
|
0.00004
|
NM_002076.4(GNS):c.*2447G>A
|
rs567930294
|
0.00004
|
NM_002076.4(GNS):c.*319C>T
|
rs368523842
|
0.00004
|
NM_002076.4(GNS):c.*71T>C
|
rs983471422
|
0.00004
|
NM_002103.5(GYS1):c.*78C>T
|
rs749720376
|
0.00004
|
NM_002103.5(GYS1):c.*969C>T
|
rs900047388
|
0.00004
|
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)
|
rs367919986
|
0.00004
|
NM_002103.5(GYS1):c.303G>A (p.Val101=)
|
rs1391443496
|
0.00004
|
NM_002103.5(GYS1):c.652G>A (p.Val218Met)
|
rs771977818
|
0.00004
|
NM_002294.3(LAMP2):c.*4664A>G
|
rs894257602
|
0.00004
|
NM_002299.4(LCT):c.4224G>A (p.Thr1408=)
|
rs199901583
|
0.00004
|
NM_002300.8(LDHB):c.375C>T (p.Ile125=)
|
rs141707607
|
0.00004
|
NM_002500.5(NEUROD1):c.*718C>T
|
rs886055320
|
0.00004
|
NM_002500.5(NEUROD1):c.-81C>T
|
rs567688779
|
0.00004
|
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr)
|
rs202197769
|
0.00004
|
NM_002637.4(PHKA1):c.*1797A>G
|
rs1296603872
|
0.00004
|
NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly)
|
rs782036622
|
0.00004
|
NM_002863.5(PYGL):c.1196G>A (p.Arg399Gln)
|
rs369207678
|
0.00004
|
NM_002863.5(PYGL):c.1519-15C>A
|
rs372886463
|
0.00004
|
NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu)
|
rs535031004
|
0.00004
|
NM_003051.3(SLC16A1):c.-218G>A
|
rs761334745
|
0.00004
|
NM_003051.4(SLC16A1):c.*77C>T
|
rs868304120
|
0.00004
|
NM_003384.3(VRK1):c.-11C>T
|
rs1055946372
|
0.00004
|
NM_003597.5(KLF11):c.*1990T>C
|
rs911685125
|
0.00004
|
NM_003597.5(KLF11):c.1259-2_1259-1del
|
rs770555623
|
0.00004
|
NM_003597.5(KLF11):c.689C>T (p.Ser230Phe)
|
rs370039403
|
0.00004
|
NM_003619.4(PRSS12):c.*800G>A
|
rs1368772207
|
0.00004
|
NM_003619.4(PRSS12):c.177G>A (p.Pro59=)
|
rs746966869
|
0.00004
|
NM_003619.4(PRSS12):c.1916+11C>T
|
rs775761093
|
0.00004
|
NM_003619.4(PRSS12):c.2568T>A (p.Pro856=)
|
rs138882049
|
0.00004
|
NM_003619.4(PRSS12):c.511C>T (p.Arg171Ter)
|
rs751423861
|
0.00004
|
NM_003619.4(PRSS12):c.890A>G (p.His297Arg)
|
rs756685819
|
0.00004
|
NM_005327.7(HADH):c.*59G>A
|
rs529762487
|
0.00004
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
NM_005566.4(LDHA):c.*666C>T
|
rs923756666
|
0.00004
|
NM_005566.4(LDHA):c.*745T>C
|
rs867222703
|
0.00004
|
NM_005609.4(PYGM):c.1266C>T (p.Asp422=)
|
rs769602726
|
0.00004
|
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val)
|
rs377371768
|
0.00004
|
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser)
|
rs143071876
|
0.00004
|
NM_006488.3(KHK):c.-379T>A
|
rs886055883
|
0.00004
|
NM_006488.3(KHK):c.210-253G>A
|
rs780961189
|
0.00004
|
NM_006488.3(KHK):c.473C>A (p.Thr158Asn)
|
rs773003580
|
0.00004
|
NM_006488.3(KHK):c.698T>G (p.Leu233Arg)
|
rs768902999
|
0.00004
|
NM_006516.4(SLC2A1):c.-129G>T
|
rs936174986
|
0.00004
|
NM_006516.4(SLC2A1):c.-192G>C
|
rs886046342
|
0.00004
|
NM_006516.4(SLC2A1):c.-194G>A
|
rs984267596
|
0.00004
|
NM_006721.4(ADK):c.*296G>A
|
rs527621742
|
0.00004
|
NM_006755.2(TALDO1):c.726C>T (p.Gly242=)
|
rs764708645
|
0.00004
|
NM_012203.2(GRHPR):c.255C>T (p.Ile85=)
|
rs372985143
|
0.00004
|
NM_012434.5(SLC17A5):c.*1696T>C
|
rs886061724
|
0.00004
|
NM_012434.5(SLC17A5):c.*373G>A
|
rs886061734
|
0.00004
|
NM_016219.5(MAN1B1):c.*191G>A
|
rs1035235945
|
0.00004
|
NM_016219.5(MAN1B1):c.1180A>G (p.Thr394Ala)
|
rs369551783
|
0.00004
|
NM_016219.5(MAN1B1):c.1321A>G (p.Met441Val)
|
rs752395239
|
0.00004
|
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys)
|
rs757690679
|
0.00004
|
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)
|
rs372125925
|
0.00004
|
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=)
|
rs558619741
|
0.00004
|
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala)
|
rs575503145
|
0.00004
|
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)
|
rs199738190
|
0.00004
|
NM_016219.5(MAN1B1):c.620+9C>T
|
rs535697514
|
0.00004
|
NM_017755.6(NSUN2):c.1022-3C>T
|
rs370183139
|
0.00004
|
NM_021957.4(GYS2):c.1790A>G (p.Asp597Gly)
|
rs767441371
|
0.00004
|
NM_021957.4(GYS2):c.2004C>T (p.Tyr668=)
|
rs571493564
|
0.00004
|
NM_021957.4(GYS2):c.942-12G>A
|
rs367916210
|
0.00004
|
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln)
|
rs368957453
|
0.00004
|
NM_053013.4(ENO3):c.11A>C (p.Gln4Pro)
|
rs138211167
|
0.00004
|
NM_138413.4(HOGA1):c.269T>A (p.Leu90His)
|
rs373226228
|
0.00004
|
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe)
|
rs745919223
|
0.00004
|
NM_138413.4(HOGA1):c.538G>A (p.Val180Met)
|
rs114177505
|
0.00004
|
NM_152419.3(HGSNAT):c.*1112C>T
|
rs1403363860
|
0.00004
|
NM_152419.3(HGSNAT):c.*1378C>T
|
rs886062960
|
0.00004
|
NM_152419.3(HGSNAT):c.*2233G>A
|
rs372413542
|
0.00004
|
NM_152419.3(HGSNAT):c.*2643G>A
|
rs141803972
|
0.00004
|
NM_152419.3(HGSNAT):c.-3G>C
|
rs1162962895
|
0.00004
|
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)
|
rs368452647
|
0.00004
|
NM_153281.2(HYAL1):c.-191+15A>G
|
rs886058695
|
0.00004
|
NM_175914.5(HNF4A):c.*1828G>A
|
rs759101859
|
0.00004
|
NM_175914.5(HNF4A):c.*1C>A
|
rs201330472
|
0.00004
|
NM_175914.5(HNF4A):c.*2297C>A
|
rs1341485123
|
0.00004
|
NM_175914.5(HNF4A):c.50-4700G>A
|
rs568730599
|
0.00004
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
NM_000030.3(AGXT):c.-14G>A
|
rs376396832
|
0.00003
|
NM_000030.3(AGXT):c.1071+13G>A
|
rs758413374
|
0.00003
|
NM_000035.4(ALDOB):c.*209C>T
|
rs1038724691
|
0.00003
|
NM_000046.5(ARSB):c.*1326G>T
|
rs974942925
|
0.00003
|
NM_000046.5(ARSB):c.-19G>A
|
rs575001282
|
0.00003
|
NM_000046.5(ARSB):c.1502G>A (p.Arg501His)
|
rs190643827
|
0.00003
|
NM_000147.5(FUCA1):c.*342C>A
|
rs1023386054
|
0.00003
|
NM_000147.5(FUCA1):c.*97T>C
|
rs1639121464
|
0.00003
|
NM_000151.4(G6PC1):c.993G>A (p.Ala331=)
|
rs369238258
|
0.00003
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)
|
rs375021198
|
0.00003
|
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe)
|
rs769312350
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
NM_000154.2(GALK1):c.-44C>T
|
rs758902207
|
0.00003
|
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys)
|
rs769167240
|
0.00003
|
NM_000155.4(GALT):c.904+2T>G
|
rs886063885
|
0.00003
|
NM_000158.4(GBE1):c.*395A>G
|
rs138608612
|
0.00003
|
NM_000162.5(GCK):c.-279C>T
|
rs997877536
|
0.00003
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
NM_000181.4(GUSB):c.-20C>T
|
rs577269089
|
0.00003
|
NM_000199.5(SGSH):c.*309G>A
|
rs566654466
|
0.00003
|
NM_000199.5(SGSH):c.*459C>T
|
rs532130517
|
0.00003
|
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
|
rs756193095
|
0.00003
|
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu)
|
rs570170198
|
0.00003
|
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
|
rs752725918
|
0.00003
|
NM_000207.3(INS):c.66C>T (p.Ala22=)
|
rs375371953
|
0.00003
|
NM_000262.3(NAGA):c.*1252T>C
|
rs886057593
|
0.00003
|
NM_000262.3(NAGA):c.110G>A (p.Arg37His)
|
rs199834981
|
0.00003
|
NM_000262.3(NAGA):c.638G>A (p.Arg213His)
|
rs781499383
|
0.00003
|
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys)
|
rs368220690
|
0.00003
|
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
|
rs376545731
|
0.00003
|
NM_000289.6(PFKM):c.*668G>T
|
rs535423254
|
0.00003
|
NM_000294.3(PHKG2):c.*47G>A
|
rs767591090
|
0.00003
|
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val)
|
rs756549612
|
0.00003
|
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
|
rs142238268
|
0.00003
|
NM_000298.6(PKLR):c.790C>T (p.Leu264=)
|
rs199959447
|
0.00003
|
NM_000298.6(PKLR):c.918C>A (p.His306Gln)
|
rs141571402
|
0.00003
|
NM_000308.4(CTSA):c.1124G>A (p.Arg375Gln)
|
rs370763298
|
0.00003
|
NM_000308.4(CTSA):c.692+13G>A
|
rs371053390
|
0.00003
|
NM_000343.4(SLC5A1):c.*1842C>T
|
rs1039766018
|
0.00003
|
NM_000343.4(SLC5A1):c.*451A>G
|
rs200434456
|
0.00003
|
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val)
|
rs751571109
|
0.00003
|
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)
|
rs59852838
|
0.00003
|
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)
|
rs191697443
|
0.00003
|
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
|
rs540122589
|
0.00003
|
NM_000352.6(ABCC8):c.413-15A>G
|
rs758744263
|
0.00003
|
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)
|
rs369810811
|
0.00003
|
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)
|
rs778892038
|
0.00003
|
NM_000365.6(TPI1):c.*260G>A
|
rs782764628
|
0.00003
|
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
|
rs139532537
|
0.00003
|
NM_000365.6(TPI1):c.617G>A (p.Arg206His)
|
rs782417309
|
0.00003
|
NM_000404.4(GLB1):c.2016A>G (p.Ser672=)
|
rs756403702
|
0.00003
|
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)
|
rs772539129
|
0.00003
|
NM_000434.4(NEU1):c.*269C>T
|
rs886061288
|
0.00003
|
NM_000434.4(NEU1):c.249A>C (p.Thr83=)
|
rs954742285
|
0.00003
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
0.00003
|
NM_000458.4(HNF1B):c.9C>T (p.Ser3=)
|
rs773256244
|
0.00003
|
NM_000507.3(FBP1):c.-215G>C
|
rs987543611
|
0.00003
|
NM_000507.4(FBP1):c.-18G>T
|
rs1006994685
|
0.00003
|
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr)
|
rs569127795
|
0.00003
|
NM_000512.5(GALNS):c.*610G>T
|
rs755706847
|
0.00003
|
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)
|
rs769748679
|
0.00003
|
NM_000525.4(KCNJ11):c.*311C>T
|
rs886048038
|
0.00003
|
NM_000525.4(KCNJ11):c.*849C>G
|
rs1272490539
|
0.00003
|
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)
|
rs114215135
|
0.00003
|
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu)
|
rs141650075
|
0.00003
|
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)
|
rs967834240
|
0.00003
|
NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=)
|
rs776158673
|
0.00003
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
NM_000545.8(HNF1A):c.30G>A (p.Thr10=)
|
rs746020457
|
0.00003
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000642.3(AGL):c.*1256A>C
|
rs886044932
|
0.00003
|
NM_000642.3(AGL):c.*1359A>G
|
rs919030085
|
0.00003
|
NM_000642.3(AGL):c.*794A>G
|
rs886044929
|
0.00003
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
NM_000891.3(KCNJ2):c.*122G>A
|
rs886053324
|
0.00003
|
NM_000891.3(KCNJ2):c.*124G>A
|
rs886053325
|
0.00003
|
NM_000891.3(KCNJ2):c.*2698T>C
|
rs368668294
|
0.00003
|
NM_000891.3(KCNJ2):c.*3032A>G
|
rs548485707
|
0.00003
|
NM_000891.3(KCNJ2):c.-348G>A
|
rs993406508
|
0.00003
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
NM_000925.4(PDHB):c.*360A>G
|
rs886058776
|
0.00003
|
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu)
|
rs752056463
|
0.00003
|
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys)
|
rs780393850
|
0.00003
|
NM_001008216.2(GALE):c.988+7G>A
|
rs200182186
|
0.00003
|
NM_001040716.2(PC):c.-272G>A
|
rs927187081
|
0.00003
|
NM_001040716.2(PC):c.1530C>T (p.Asn510=)
|
rs755162836
|
0.00003
|
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)
|
rs201796252
|
0.00003
|
NM_001040716.2(PC):c.3483T>C (p.His1161=)
|
rs190223302
|
0.00003
|
NM_001040716.2(PC):c.841G>A (p.Ala281Thr)
|
rs773369359
|
0.00003
|
NM_001041.4(SI):c.1-15C>A
|
rs201424057
|
0.00003
|
NM_001041.4(SI):c.1715+8C>A
|
rs373673328
|
0.00003
|
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)
|
rs200972419
|
0.00003
|
NM_001041.4(SI):c.2566-11A>G
|
rs747570138
|
0.00003
|
NM_001041.4(SI):c.2966G>A (p.Arg989His)
|
rs757155810
|
0.00003
|
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)
|
rs756776020
|
0.00003
|
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala)
|
rs202077921
|
0.00003
|
NM_001041.4(SI):c.4062+11C>T
|
rs747768310
|
0.00003
|
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala)
|
rs758043919
|
0.00003
|
NM_001041.4(SI):c.453A>G (p.Gln151=)
|
rs374104171
|
0.00003
|
NM_001041.4(SI):c.780T>G (p.Ile260Met)
|
rs758621325
|
0.00003
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=)
|
rs773402743
|
0.00003
|
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)
|
rs145582724
|
0.00003
|
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr)
|
rs886051893
|
0.00003
|
NM_001352514.2(HLCS):c.*1581T>C
|
rs886057069
|
0.00003
|
NM_001352514.2(HLCS):c.*1761_*1762del
|
rs886057067
|
0.00003
|
NM_001352514.2(HLCS):c.*334A>G
|
rs886057073
|
0.00003
|
NM_001352514.2(HLCS):c.*779A>T
|
rs886057072
|
0.00003
|
NM_001352514.2(HLCS):c.*985C>A
|
rs886057071
|
0.00003
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly)
|
rs886057080
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn)
|
rs148426470
|
0.00003
|
NM_001360016.2(G6PD):c.*599C>T
|
rs921086000
|
0.00003
|
NM_001360016.2(G6PD):c.864+14C>T
|
rs782416820
|
0.00003
|
NM_001366110.1(PAX4):c.14-101C>T
|
rs886061970
|
0.00003
|
NM_001366110.1(PAX4):c.14-176C>A
|
rs754931916
|
0.00003
|
NM_001715.2(BLK):c.-531C>T
|
rs538706235
|
0.00003
|
NM_001715.3(BLK):c.1089G>A (p.Ala363=)
|
rs55836779
|
0.00003
|
NM_001715.3(BLK):c.164A>G (p.His55Arg)
|
rs202053568
|
0.00003
|
NM_002076.4(GNS):c.*2032T>A
|
rs886049763
|
0.00003
|
NM_002076.4(GNS):c.*2560T>G
|
rs886049762
|
0.00003
|
NM_002076.4(GNS):c.*2625G>A
|
rs1468841522
|
0.00003
|
NM_002076.4(GNS):c.*2783C>T
|
rs573404754
|
0.00003
|
NM_002076.4(GNS):c.*425G>A
|
rs141736156
|
0.00003
|
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn)
|
rs138335335
|
0.00003
|
NM_002103.5(GYS1):c.-171A>T
|
rs766268073
|
0.00003
|
NM_002103.5(GYS1):c.1077G>A (p.Glu359=)
|
rs756998086
|
0.00003
|
NM_002103.5(GYS1):c.222G>A (p.Arg74=)
|
rs748174034
|
0.00003
|
NM_002103.5(GYS1):c.741G>A (p.Ala247=)
|
rs3745692
|
0.00003
|
NM_002294.3(LAMP2):c.*2147T>C
|
rs1314194515
|
0.00003
|
NM_002294.3(LAMP2):c.*4858A>G
|
rs943561186
|
0.00003
|
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val)
|
rs1362738445
|
0.00003
|
NM_002299.4(LCT):c.1780C>G (p.Gln594Glu)
|
rs886054867
|
0.00003
|
NM_002299.4(LCT):c.3450C>T (p.Ser1150=)
|
rs777067647
|
0.00003
|
NM_002299.4(LCT):c.5335+5G>A
|
rs747065034
|
0.00003
|
NM_002299.4(LCT):c.5391T>C (p.Asn1797=)
|
rs145827881
|
0.00003
|
NM_002299.4(LCT):c.5493C>T (p.Tyr1831=)
|
rs369410973
|
0.00003
|
NM_002299.4(LCT):c.725C>T (p.Thr242Met)
|
rs757179373
|
0.00003
|
NM_002299.4(LCT):c.89C>T (p.Ser30Phe)
|
rs368308800
|
0.00003
|
NM_002300.8(LDHB):c.719A>G (p.Tyr240Cys)
|
rs369382991
|
0.00003
|
NM_002591.4(PCK1):c.*392T>C
|
rs111775670
|
0.00003
|
NM_002591.4(PCK1):c.-64C>T
|
rs886056793
|
0.00003
|
NM_002591.4(PCK1):c.1553G>A (p.Arg518Gln)
|
rs768176085
|
0.00003
|
NM_002591.4(PCK1):c.903C>T (p.Pro301=)
|
rs779245706
|
0.00003
|
NM_002637.4(PHKA1):c.*2110A>G
|
rs1380630404
|
0.00003
|
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His)
|
rs782546754
|
0.00003
|
NM_002863.5(PYGL):c.369A>G (p.Leu123=)
|
rs778625321
|
0.00003
|
NM_002863.5(PYGL):c.772+14A>G
|
rs370866175
|
0.00003
|
NM_002863.5(PYGL):c.833G>A (p.Arg278Gln)
|
rs375172368
|
0.00003
|
NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val)
|
rs199521654
|
0.00003
|
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu)
|
rs564249983
|
0.00003
|
NM_003051.3(SLC16A1):c.-324T>G
|
rs1019615427
|
0.00003
|
NM_003051.4(SLC16A1):c.*1312G>C
|
rs886045059
|
0.00003
|
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile)
|
rs200802632
|
0.00003
|
NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=)
|
rs773196238
|
0.00003
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
|
rs369917766
|
0.00003
|
NM_003597.5(KLF11):c.-159G>A
|
rs1445533585
|
0.00003
|
NM_003597.5(KLF11):c.305C>G (p.Ser102Trp)
|
rs576350323
|
0.00003
|
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly)
|
rs201792575
|
0.00003
|
NM_003597.5(KLF11):c.431T>C (p.Val144Ala)
|
rs753049849
|
0.00003
|
NM_003619.4(PRSS12):c.1837+1G>A
|
rs201470712
|
0.00003
|
NM_003619.4(PRSS12):c.2088T>C (p.His696=)
|
rs141365421
|
0.00003
|
NM_003619.4(PRSS12):c.781C>T (p.Gln261Ter)
|
rs1205071832
|
0.00003
|
NM_005271.5(GLUD1):c.*1270C>T
|
rs886047370
|
0.00003
|
NM_005271.5(GLUD1):c.*1464C>T
|
rs886047368
|
0.00003
|
NM_005271.5(GLUD1):c.*1548C>T
|
rs886047366
|
0.00003
|
NM_005327.7(HADH):c.889G>A (p.Val297Ile)
|
rs376876153
|
0.00003
|
NM_005566.4(LDHA):c.137A>T (p.Asp46Val)
|
rs201460924
|
0.00003
|
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val)
|
rs370291854
|
0.00003
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
NM_005609.4(PYGM):c.64G>A (p.Val22Met)
|
rs140731551
|
0.00003
|
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn)
|
rs376012848
|
0.00003
|
NM_006488.3(KHK):c.*200A>G
|
rs751205514
|
0.00003
|
NM_006516.2(SLC2A1):c.-384G>A
|
rs886046345
|
0.00003
|
NM_006516.4(SLC2A1):c.*1149C>A
|
rs779668330
|
0.00003
|
NM_006516.4(SLC2A1):c.*1246G>A
|
rs886046330
|
0.00003
|
NM_006516.4(SLC2A1):c.*1281A>G
|
rs1057515458
|
0.00003
|
NM_006516.4(SLC2A1):c.*322T>G
|
rs886046340
|
0.00003
|
NM_006516.4(SLC2A1):c.*597G>A
|
rs886046338
|
0.00003
|
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)
|
rs577667739
|
0.00003
|
NM_006721.4(ADK):c.259A>G (p.Ile87Val)
|
rs201734294
|
0.00003
|
NM_006755.2(TALDO1):c.*33C>T
|
rs375388046
|
0.00003
|
NM_006755.2(TALDO1):c.462-4G>A
|
rs532763032
|
0.00003
|
NM_006755.2(TALDO1):c.575G>A (p.Arg192His)
|
rs151052416
|
0.00003
|
NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys)
|
rs765872752
|
0.00003
|
NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr)
|
rs375231328
|
0.00003
|
NM_012203.2(GRHPR):c.554G>A (p.Arg185His)
|
rs1327662246
|
0.00003
|
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met)
|
rs750954346
|
0.00003
|
NM_012434.5(SLC17A5):c.-86A>T
|
rs886061737
|
0.00003
|
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)
|
rs374771372
|
0.00003
|
NM_016219.5(MAN1B1):c.*62A>G
|
rs963031485
|
0.00003
|
NM_016219.5(MAN1B1):c.488G>A (p.Arg163Gln)
|
rs765008747
|
0.00003
|
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=)
|
rs777042053
|
0.00003
|
NM_016219.5(MAN1B1):c.936G>T (p.Lys312Asn)
|
rs376305905
|
0.00003
|
NM_017755.6(NSUN2):c.1213C>T (p.His405Tyr)
|
rs766301739
|
0.00003
|
NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser)
|
rs140003855
|
0.00003
|
NM_017755.6(NSUN2):c.914G>A (p.Arg305His)
|
rs368030963
|
0.00003
|
NM_020897.3(HCN3):c.*1004C>T
|
rs937795186
|
0.00003
|
NM_021957.4(GYS2):c.*406T>G
|
rs886445298
|
0.00003
|
NM_021957.4(GYS2):c.1129G>A (p.Val377Met)
|
rs199855783
|
0.00003
|
NM_021957.4(GYS2):c.1549G>C (p.Ala517Pro)
|
rs199936257
|
0.00003
|
NM_021957.4(GYS2):c.525C>T (p.Val175=)
|
rs77486019
|
0.00003
|
NM_021957.4(GYS2):c.627T>A (p.Leu209=)
|
rs767838400
|
0.00003
|
NM_021957.4(GYS2):c.799G>A (p.Glu267Lys)
|
rs768020573
|
0.00003
|
NM_053013.4(ENO3):c.1047G>A (p.Ser349=)
|
rs527864393
|
0.00003
|
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu)
|
rs763327091
|
0.00003
|
NM_138413.4(HOGA1):c.909C>T (p.Arg303=)
|
rs764469579
|
0.00003
|
NM_144563.3(RPIA):c.*591G>T
|
rs925199328
|
0.00003
|
NM_144563.3(RPIA):c.*712T>C
|
rs886056425
|
0.00003
|
NM_144563.3(RPIA):c.596+5A>C
|
rs200342264
|
0.00003
|
NM_152419.3(HGSNAT):c.*1137C>T
|
rs142422330
|
0.00003
|
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)
|
rs375524490
|
0.00003
|
NM_175914.5(HNF4A):c.*1616G>A
|
rs886056685
|
0.00003
|
NM_175914.5(HNF4A):c.*168G>T
|
rs1045382698
|
0.00003
|
NM_175914.5(HNF4A):c.*2779A>C
|
rs755438203
|
0.00003
|
NM_175914.5(HNF4A):c.*572C>A
|
rs761017274
|
0.00003
|
NM_175914.5(HNF4A):c.1216+6C>A
|
rs778818487
|
0.00003
|
NM_000027.4(AGA):c.598G>A (p.Asp200Asn)
|
rs761243441
|
0.00002
|
NM_000030.3(AGXT):c.942+14T>G
|
rs886055843
|
0.00002
|
NM_000035.4(ALDOB):c.557T>C (p.Ile186Thr)
|
rs770158282
|
0.00002
|
NM_000035.4(ALDOB):c.954T>C (p.Ala318=)
|
rs572044496
|
0.00002
|
NM_000046.5(ARSB):c.*2164T>A
|
rs950647700
|
0.00002
|
NM_000046.5(ARSB):c.*2526T>A
|
rs1174387311
|
0.00002
|
NM_000046.5(ARSB):c.*3163T>C
|
rs886060778
|
0.00002
|
NM_000046.5(ARSB):c.*618C>T
|
rs757857543
|
0.00002
|
NM_000046.5(ARSB):c.*990C>T
|
rs886060793
|
0.00002
|
NM_000046.5(ARSB):c.1231G>A (p.Ala411Thr)
|
rs886060797
|
0.00002
|
NM_000108.5(DLD):c.*355A>G
|
rs886061910
|
0.00002
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
|
rs967089304
|
0.00002
|
NM_000108.5(DLD):c.677T>C (p.Val226Ala)
|
rs750449027
|
0.00002
|
NM_000147.5(FUCA1):c.1260+7A>C
|
rs771229488
|
0.00002
|
NM_000151.4(G6PC1):c.*1311G>A
|
rs1395262885
|
0.00002
|
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile)
|
rs766230068
|
0.00002
|
NM_000151.4(G6PC1):c.922G>A (p.Val308Ile)
|
rs774448424
|
0.00002
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000152.5(GAA):c.840C>G (p.Asn280Lys)
|
rs747820772
|
0.00002
|
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys)
|
rs371641311
|
0.00002
|
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys)
|
rs764167059
|
0.00002
|
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)
|
rs762945205
|
0.00002
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
0.00002
|
NM_000162.5(GCK):c.10G>A (p.Asp4Asn)
|
rs202091228
|
0.00002
|
NM_000162.5(GCK):c.435C>G (p.Pro145=)
|
rs773281783
|
0.00002
|
NM_000162.5(GCK):c.483+3G>A
|
rs1311596702
|
0.00002
|
NM_000181.4(GUSB):c.1193G>A (p.Arg398His)
|
rs776843811
|
0.00002
|
NM_000181.4(GUSB):c.347G>A (p.Arg116His)
|
rs538431094
|
0.00002
|
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu)
|
rs748671633
|
0.00002
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
0.00002
|
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
|
rs143938936
|
0.00002
|
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)
|
rs199528011
|
0.00002
|
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
|
rs139800248
|
0.00002
|
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
|
rs755125202
|
0.00002
|
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)
|
rs186632999
|
0.00002
|
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)
|
rs758004953
|
0.00002
|
NM_000294.3(PHKG2):c.-3A>G
|
rs1049581523
|
0.00002
|
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp)
|
rs746361026
|
0.00002
|
NM_000298.6(PKLR):c.909G>C (p.Pro303=)
|
rs200840994
|
0.00002
|
NM_000308.4(CTSA):c.319G>A (p.Gly107Ser)
|
rs886056713
|
0.00002
|
NM_000308.4(CTSA):c.693-3C>T
|
rs773034222
|
0.00002
|
NM_000308.4(CTSA):c.793C>T (p.Arg265Cys)
|
rs763381306
|
0.00002
|
NM_000340.2(SLC2A2):c.*1004G>A
|
rs1472003372
|
0.00002
|
NM_000343.4(SLC5A1):c.*2132C>A
|
rs541518106
|
0.00002
|
NM_000343.4(SLC5A1):c.*638T>C
|
rs1049834917
|
0.00002
|
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=)
|
rs201834537
|
0.00002
|
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=)
|
rs368853644
|
0.00002
|
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
|
rs1331539684
|
0.00002
|
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
NM_000352.6(ABCC8):c.291-3C>T
|
rs764107333
|
0.00002
|
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp)
|
rs368710356
|
0.00002
|
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile)
|
rs774965446
|
0.00002
|
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)
|
rs750165947
|
0.00002
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00002
|
NM_000404.4(GLB1):c.1568A>G (p.His523Arg)
|
rs1175119240
|
0.00002
|
NM_000434.4(NEU1):c.*180G>A
|
rs968121109
|
0.00002
|
NM_000434.4(NEU1):c.799-4T>C
|
rs759065536
|
0.00002
|
NM_000507.3(FBP1):c.-219C>T
|
rs1057515693
|
0.00002
|
NM_000507.4(FBP1):c.721T>C (p.Tyr241His)
|
rs757338386
|
0.00002
|
NM_000512.5(GALNS):c.*263T>C
|
rs886052451
|
0.00002
|
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
|
rs768334388
|
0.00002
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val)
|
rs201153945
|
0.00002
|
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
|
rs190707335
|
0.00002
|
NM_000525.4(KCNJ11):c.*40C>T
|
rs746850899
|
0.00002
|
NM_000525.4(KCNJ11):c.-179C>T
|
rs776949660
|
0.00002
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=)
|
rs778225010
|
0.00002
|
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp)
|
rs757621300
|
0.00002
|
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser)
|
rs377509266
|
0.00002
|
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)
|
rs771761940
|
0.00002
|
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
|
rs561895292
|
0.00002
|
NM_000545.8(HNF1A):c.1533G>A (p.Gln511=)
|
rs147198532
|
0.00002
|
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr)
|
rs137853246
|
0.00002
|
NM_000545.8(HNF1A):c.216C>T (p.Asp72=)
|
rs148961412
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000642.3(AGL):c.2682-7T>C
|
rs375256646
|
0.00002
|
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg)
|
rs759461084
|
0.00002
|
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg)
|
rs769337147
|
0.00002
|
NM_000642.3(AGL):c.880C>T (p.Pro294Ser)
|
rs886044917
|
0.00002
|
NM_000891.3(KCNJ2):c.*1367T>C
|
rs565257870
|
0.00002
|
NM_000891.3(KCNJ2):c.*1702CT[3]
|
rs1555604187
|
0.00002
|
NM_000891.3(KCNJ2):c.*2001A>G
|
rs886053336
|
0.00002
|
NM_001040716.2(PC):c.*43C>T
|
rs751861809
|
0.00002
|
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
|
rs201776268
|
0.00002
|
NM_001040716.2(PC):c.1514-13G>A
|
rs773976056
|
0.00002
|
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
|
rs148613404
|
0.00002
|
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
|
rs774982916
|
0.00002
|
NM_001040716.2(PC):c.543C>T (p.His181=)
|
rs139717038
|
0.00002
|
NM_001041.4(SI):c.1106A>G (p.Lys369Arg)
|
rs756534501
|
0.00002
|
NM_001041.4(SI):c.1311T>C (p.Asn437=)
|
rs886058149
|
0.00002
|
NM_001041.4(SI):c.1616T>C (p.Met539Thr)
|
rs749835475
|
0.00002
|
NM_001041.4(SI):c.3197A>G (p.Glu1066Gly)
|
rs760887527
|
0.00002
|
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn)
|
rs376341511
|
0.00002
|
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu)
|
rs574552408
|
0.00002
|
NM_001041.4(SI):c.5109-3T>C
|
rs202110241
|
0.00002
|
NM_001041.4(SI):c.5320G>A (p.Val1774Ile)
|
rs771335037
|
0.00002
|
NM_001041.4(SI):c.636-14C>T
|
rs746808951
|
0.00002
|
NM_001164277.2(SLC37A4):c.*204C>T
|
rs1299052310
|
0.00002
|
NM_001164277.2(SLC37A4):c.*263T>C
|
rs183965171
|
0.00002
|
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=)
|
rs758499704
|
0.00002
|
NM_001352514.2(HLCS):c.*1071G>A
|
rs987334114
|
0.00002
|
NM_001352514.2(HLCS):c.*14C>T
|
rs778616712
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
|
rs778638155
|
0.00002
|
NM_001360016.2(G6PD):c.*466C>G
|
rs1239325414
|
0.00002
|
NM_001360016.2(G6PD):c.1101C>T (p.Ala367=)
|
rs1256250108
|
0.00002
|
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=)
|
rs782623392
|
0.00002
|
NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys)
|
rs1377337822
|
0.00002
|
NM_001360016.2(G6PD):c.750C>T (p.Phe250=)
|
rs140496395
|
0.00002
|
NM_001360016.2(G6PD):c.771-11T>C
|
rs782622284
|
0.00002
|
NM_001370658.1(BTD):c.-87G>T
|
rs755119589
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
NM_001715.3(BLK):c.41C>T (p.Pro14Leu)
|
rs769734763
|
0.00002
|
NM_001715.3(BLK):c.571C>A (p.Pro191Thr)
|
rs769895420
|
0.00002
|
NM_001715.3(BLK):c.773-9C>T
|
rs772158649
|
0.00002
|
NM_002076.4(GNS):c.*2740G>A
|
rs886049761
|
0.00002
|
NM_002076.4(GNS):c.285A>G (p.Arg95=)
|
rs545765198
|
0.00002
|
NM_002103.5(GYS1):c.-26C>T
|
rs202114467
|
0.00002
|
NM_002103.5(GYS1):c.1020C>T (p.Asp340=)
|
rs13306415
|
0.00002
|
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)
|
rs775775270
|
0.00002
|
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr)
|
rs1205499394
|
0.00002
|
NM_002103.5(GYS1):c.803A>T (p.His268Leu)
|
rs769630976
|
0.00002
|
NM_002294.3(LAMP2):c.*3263T>C
|
rs1164559557
|
0.00002
|
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)
|
rs2058522449
|
0.00002
|
NM_002299.4(LCT):c.2618C>T (p.Pro873Leu)
|
rs367727872
|
0.00002
|
NM_002299.4(LCT):c.3759G>A (p.Thr1253=)
|
rs764860323
|
0.00002
|
NM_002299.4(LCT):c.3986C>T (p.Thr1329Met)
|
rs555708380
|
0.00002
|
NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu)
|
rs757978538
|
0.00002
|
NM_002300.8(LDHB):c.782T>C (p.Ile261Thr)
|
rs775184475
|
0.00002
|
NM_002591.4(PCK1):c.*249G>T
|
rs886056796
|
0.00002
|
NM_002591.4(PCK1):c.*92C>T
|
rs17847706
|
0.00002
|
NM_002591.4(PCK1):c.-3G>A
|
rs780659077
|
0.00002
|
NM_002591.4(PCK1):c.1537C>T (p.His513Tyr)
|
rs267606016
|
0.00002
|
NM_002591.4(PCK1):c.1644C>G (p.Ala548=)
|
rs183812420
|
0.00002
|
NM_002591.4(PCK1):c.955G>A (p.Ala319Thr)
|
rs747438321
|
0.00002
|
NM_002863.5(PYGL):c.2215C>A (p.Leu739Met)
|
rs766875279
|
0.00002
|
NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met)
|
rs760834878
|
0.00002
|
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala)
|
rs753477563
|
0.00002
|
NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=)
|
rs372404252
|
0.00002
|
NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr)
|
rs769746256
|
0.00002
|
NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu)
|
rs778273828
|
0.00002
|
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=)
|
rs779279429
|
0.00002
|
NM_003477.3(PDHX):c.511G>A (p.Val171Ile)
|
rs142256229
|
0.00002
|
NM_003597.5(KLF11):c.*1320G>A
|
rs555032852
|
0.00002
|
NM_003597.5(KLF11):c.*2081C>T
|
rs886054736
|
0.00002
|
NM_003597.5(KLF11):c.*954C>G
|
rs886054728
|
0.00002
|
NM_003597.5(KLF11):c.994C>T (p.Pro332Ser)
|
rs375265808
|
0.00002
|
NM_003619.4(PRSS12):c.*1573G>A
|
rs931601172
|
0.00002
|
NM_005271.5(GLUD1):c.154C>A (p.His52Asn)
|
rs750420022
|
0.00002
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
NM_005271.5(GLUD1):c.55C>T (p.Leu19=)
|
rs892387294
|
0.00002
|
NM_005566.4(LDHA):c.*835A>G
|
rs886048092
|
0.00002
|
NM_005566.4(LDHA):c.249T>C (p.Tyr83=)
|
rs199653952
|
0.00002
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser)
|
rs755716626
|
0.00002
|
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)
|
rs759260599
|
0.00002
|
NM_005609.4(PYGM):c.346-9C>T
|
rs368998655
|
0.00002
|
NM_005908.4(MANBA):c.*447G>A
|
rs1025033156
|
0.00002
|
NM_005908.4(MANBA):c.*516T>C
|
rs562838260
|
0.00002
|
NM_005908.4(MANBA):c.1317+14C>A
|
rs200935345
|
0.00002
|
NM_005908.4(MANBA):c.2389G>A (p.Val797Met)
|
rs747236675
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_006488.3(KHK):c.*28T>C
|
rs745543858
|
0.00002
|
NM_006488.3(KHK):c.*49C>T
|
rs776688675
|
0.00002
|
NM_006488.3(KHK):c.-15T>G
|
rs763655731
|
0.00002
|
NM_006488.3(KHK):c.210-283C>T
|
rs886055886
|
0.00002
|
NM_006516.2(SLC2A1):c.-225T>G
|
rs886046343
|
0.00002
|
NM_006516.4(SLC2A1):c.*514G>T
|
rs886046339
|
0.00002
|
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)
|
rs765479065
|
0.00002
|
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)
|
rs397514564
|
0.00002
|
NM_006569.6(CGREF1):c.*570G>A
|
rs1459521395
|
0.00002
|
NM_006721.4(ADK):c.*337T>G
|
rs886047238
|
0.00002
|
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu)
|
rs74692381
|
0.00002
|
NM_012434.5(SLC17A5):c.*1566G>A
|
rs886061726
|
0.00002
|
NM_016042.4(EXOSC3):c.*194G>C
|
rs886063933
|
0.00002
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
NM_016219.5(MAN1B1):c.*259G>A
|
rs886063732
|
0.00002
|
NM_016219.5(MAN1B1):c.*489G>A
|
rs572418621
|
0.00002
|
NM_016219.5(MAN1B1):c.1255-13C>T
|
rs765403325
|
0.00002
|
NM_016219.5(MAN1B1):c.1546G>A (p.Gly516Ser)
|
rs760557104
|
0.00002
|
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=)
|
rs779234844
|
0.00002
|
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)
|
rs564784943
|
0.00002
|
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=)
|
rs202157161
|
0.00002
|
NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly)
|
rs762093598
|
0.00002
|
NM_017755.6(NSUN2):c.2283G>A (p.Ala761=)
|
rs752702755
|
0.00002
|
NM_017755.6(NSUN2):c.255-4A>G
|
rs201837443
|
0.00002
|
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)
|
rs142135083
|
0.00002
|
NM_021957.4(GYS2):c.1362C>T (p.Asp454=)
|
rs144580757
|
0.00002
|
NM_021957.4(GYS2):c.756T>C (p.Ala252=)
|
rs886049159
|
0.00002
|
NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu)
|
rs761121808
|
0.00002
|
NM_053013.4(ENO3):c.554G>T (p.Gly185Val)
|
rs200324278
|
0.00002
|
NM_053013.4(ENO3):c.555C>T (p.Gly185=)
|
rs757606682
|
0.00002
|
NM_138413.4(HOGA1):c.*109C>T
|
rs534886813
|
0.00002
|
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)
|
rs758304537
|
0.00002
|
NM_138413.4(HOGA1):c.39G>A (p.Gly13=)
|
rs200127255
|
0.00002
|
NM_144563.3(RPIA):c.218C>G (p.Ser73Cys)
|
rs372920523
|
0.00002
|
NM_144563.3(RPIA):c.527+11T>C
|
rs777127840
|
0.00002
|
NM_152419.3(HGSNAT):c.*619T>C
|
rs1000241712
|
0.00002
|
NM_152419.3(HGSNAT):c.*649A>G
|
rs1333110406
|
0.00002
|
NM_152419.3(HGSNAT):c.1128+3G>A
|
rs1401358094
|
0.00002
|
NM_152419.3(HGSNAT):c.371+15T>A
|
rs372920077
|
0.00002
|
NM_175914.5(HNF4A):c.*867G>A
|
rs940169046
|
0.00002
|
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=)
|
rs758836138
|
0.00002
|
NM_198586.3(NHLRC1):c.*210T>C
|
rs1370146880
|
0.00002
|
NM_000027.3(AGA):c.-94G>A
|
rs886059264
|
0.00001
|
NM_000027.4(AGA):c.*48G>A
|
rs752452878
|
0.00001
|
NM_000027.4(AGA):c.*635A>G
|
rs1175193567
|
0.00001
|
NM_000027.4(AGA):c.*868C>G
|
rs886059258
|
0.00001
|
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)
|
rs1489211352
|
0.00001
|
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
|
rs753394137
|
0.00001
|
NM_000027.4(AGA):c.657T>C (p.Ala219=)
|
rs886059261
|
0.00001
|
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
|
rs1254844989
|
0.00001
|
NM_000027.4(AGA):c.92T>C (p.Val31Ala)
|
rs886059263
|
0.00001
|
NM_000030.3(AGXT):c.*285G>A
|
rs567385270
|
0.00001
|
NM_000030.3(AGXT):c.*52C>G
|
rs547538869
|
0.00001
|
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr)
|
rs749568989
|
0.00001
|
NM_000030.3(AGXT):c.40C>T (p.Leu14=)
|
rs2058975287
|
0.00001
|
NM_000030.3(AGXT):c.510G>A (p.Gly170=)
|
rs965707125
|
0.00001
|
NM_000030.3(AGXT):c.537G>C (p.Leu179=)
|
rs565927450
|
0.00001
|
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)
|
rs886055840
|
0.00001
|
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys)
|
rs886055841
|
0.00001
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
|
rs1176960115
|
0.00001
|
NM_000035.4(ALDOB):c.309C>T (p.Ile103=)
|
rs747019279
|
0.00001
|
NM_000035.4(ALDOB):c.344C>T (p.Pro115Leu)
|
rs763058812
|
0.00001
|
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr)
|
rs755134927
|
0.00001
|
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys)
|
rs777324536
|
0.00001
|
NM_000035.4(ALDOB):c.94G>C (p.Ala32Pro)
|
rs1831207922
|
0.00001
|
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val)
|
rs755508323
|
0.00001
|
NM_000046.3(ARSB):c.-1058A>G
|
rs886060802
|
0.00001
|
NM_000046.4(ARSB):c.-301G>A
|
rs886060799
|
0.00001
|
NM_000046.4(ARSB):c.-507T>C
|
rs886060800
|
0.00001
|
NM_000046.5(ARSB):c.*1169T>C
|
rs886060791
|
0.00001
|
NM_000046.5(ARSB):c.*2680C>T
|
rs1043901041
|
0.00001
|
NM_000046.5(ARSB):c.*2784C>A
|
rs1390008938
|
0.00001
|
NM_000046.5(ARSB):c.*2831T>A
|
rs1225906488
|
0.00001
|
NM_000046.5(ARSB):c.*3152A>G
|
rs886060779
|
0.00001
|
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
|
rs762454192
|
0.00001
|
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly)
|
rs1250729156
|
0.00001
|
NM_000046.5(ARSB):c.1453C>G (p.His485Asp)
|
rs751829762
|
0.00001
|
NM_000108.5(DLD):c.*1401G>T
|
rs1266926415
|
0.00001
|
NM_000108.5(DLD):c.*1724C>G
|
rs886061913
|
0.00001
|
NM_000108.5(DLD):c.*225C>T
|
rs553824101
|
0.00001
|
NM_000108.5(DLD):c.*394A>G
|
rs1246423607
|
0.00001
|
NM_000108.5(DLD):c.116C>T (p.Pro39Leu)
|
rs766396602
|
0.00001
|
NM_000108.5(DLD):c.117G>A (p.Pro39=)
|
rs751621846
|
0.00001
|
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)
|
rs886061907
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_000147.5(FUCA1):c.*527A>G
|
rs886046322
|
0.00001
|
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)
|
rs769788583
|
0.00001
|
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)
|
rs749269943
|
0.00001
|
NM_000147.5(FUCA1):c.30G>C (p.Pro10=)
|
rs886046326
|
0.00001
|
NM_000147.5(FUCA1):c.472G>A (p.Val158Met)
|
rs550936524
|
0.00001
|
NM_000151.4(G6PC1):c.*1671C>T
|
rs568149292
|
0.00001
|
NM_000151.4(G6PC1):c.*211T>C
|
rs886052958
|
0.00001
|
NM_000151.4(G6PC1):c.*2134G>A
|
rs886052963
|
0.00001
|
NM_000151.4(G6PC1):c.*2847T>C
|
rs139115520
|
0.00001
|
NM_000151.4(G6PC1):c.*2981G>T
|
rs886052968
|
0.00001
|
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)
|
rs779263877
|
0.00001
|
NM_000151.4(G6PC1):c.231-12G>A
|
rs373908549
|
0.00001
|
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)
|
rs886052955
|
0.00001
|
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)
|
rs529957748
|
0.00001
|
NM_000152.5(GAA):c.*163G>T
|
rs761668638
|
0.00001
|
NM_000152.5(GAA):c.*66G>A
|
rs908570853
|
0.00001
|
NM_000152.5(GAA):c.-236C>T
|
rs886053541
|
0.00001
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
NM_000152.5(GAA):c.1448G>T (p.Gly483Val)
|
rs2039213206
|
0.00001
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
|
rs765586839
|
0.00001
|
NM_000152.5(GAA):c.511G>A (p.Val171Met)
|
rs886053543
|
0.00001
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser)
|
rs773416475
|
0.00001
|
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg)
|
rs201811960
|
0.00001
|
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu)
|
rs754230597
|
0.00001
|
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg)
|
rs555279924
|
0.00001
|
NM_000154.2(GALK1):c.786G>A (p.Glu262=)
|
rs756263074
|
0.00001
|
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu)
|
rs558638718
|
0.00001
|
NM_000154.2(GALK1):c.995C>T (p.Ala332Val)
|
rs886053419
|
0.00001
|
NM_000155.4(GALT):c.378-7C>T
|
rs751084584
|
0.00001
|
NM_000155.4(GALT):c.773G>A (p.Arg258His)
|
rs773766027
|
0.00001
|
NM_000155.4(GALT):c.843G>A (p.Lys281=)
|
rs368298966
|
0.00001
|
NM_000158.4(GBE1):c.*545G>C
|
rs548648836
|
0.00001
|
NM_000158.4(GBE1):c.-6C>G
|
rs1197683058
|
0.00001
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys)
|
rs769567764
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
|
rs779371387
|
0.00001
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000162.5(GCK):c.*723A>G
|
rs886062345
|
0.00001
|
NM_000162.5(GCK):c.-449G>A
|
rs1375544246
|
0.00001
|
NM_000162.5(GCK):c.1253+12C>T
|
rs768491249
|
0.00001
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
NM_000162.5(GCK):c.580-11C>T
|
rs370016334
|
0.00001
|
NM_000181.4(GUSB):c.-19G>C
|
rs771999951
|
0.00001
|
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
|
rs121918182
|
0.00001
|
NM_000181.4(GUSB):c.1245-4G>A
|
rs548368848
|
0.00001
|
NM_000181.4(GUSB):c.210+11G>C
|
rs886062403
|
0.00001
|
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly)
|
rs767239546
|
0.00001
|
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)
|
rs561880652
|
0.00001
|
NM_000199.5(SGSH):c.*1098G>A
|
rs886053551
|
0.00001
|
NM_000199.5(SGSH):c.*369C>T
|
rs886053557
|
0.00001
|
NM_000199.5(SGSH):c.*506C>T
|
rs1011435930
|
0.00001
|
NM_000199.5(SGSH):c.*994G>A
|
rs929179426
|
0.00001
|
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
|
rs767649680
|
0.00001
|
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp)
|
rs754273400
|
0.00001
|
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
|
rs751641089
|
0.00001
|
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
|
rs2041774244
|
0.00001
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
NM_000199.5(SGSH):c.88+8C>T
|
rs75720127
|
0.00001
|
NM_000199.5(SGSH):c.942C>T (p.Ser314=)
|
rs759810426
|
0.00001
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu)
|
rs4690224
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu)
|
rs536381533
|
0.00001
|
NM_000207.3(INS):c.25C>T (p.Pro9Ser)
|
rs372122432
|
0.00001
|
NM_000262.3(NAGA):c.*268G>A
|
rs886057596
|
0.00001
|
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser)
|
rs778343270
|
0.00001
|
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
|
rs776865602
|
0.00001
|
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe)
|
rs886057597
|
0.00001
|
NM_000262.3(NAGA):c.549C>T (p.Ile183=)
|
rs374984089
|
0.00001
|
NM_000263.3(NAGLU):c.-228C>G
|
rs554915381
|
0.00001
|
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152
|
0.00001
|
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
|
rs774918711
|
0.00001
|
NM_000284.4(PDHA1):c.*1376C>T
|
rs963546680
|
0.00001
|
NM_000284.4(PDHA1):c.*1779A>T
|
rs758279534
|
0.00001
|
NM_000289.6(PFKM):c.*532A>G
|
rs927525907
|
0.00001
|
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)
|
rs762357629
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
|
rs1225653591
|
0.00001
|
NM_000293.3(PHKB):c.*349C>T
|
rs886052025
|
0.00001
|
NM_000293.3(PHKB):c.*595G>A
|
rs563945926
|
0.00001
|
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr)
|
rs745821795
|
0.00001
|
NM_000293.3(PHKB):c.1797+9G>A
|
rs746001808
|
0.00001
|
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
|
rs1248967430
|
0.00001
|
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
|
rs573384357
|
0.00001
|
NM_000293.3(PHKB):c.2196+14A>G
|
rs751084282
|
0.00001
|
NM_000293.3(PHKB):c.370G>C (p.Gly124Arg)
|
rs749597903
|
0.00001
|
NM_000293.3(PHKB):c.522del (p.Val175fs)
|
rs1242540921
|
0.00001
|
NM_000293.3(PHKB):c.595-5T>G
|
rs369184808
|
0.00001
|
NM_000293.3(PHKB):c.76+2T>C
|
rs1303617854
|
0.00001
|
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser)
|
rs143805637
|
0.00001
|
NM_000294.2(PHKG2):c.-106G>A
|
rs879382458
|
0.00001
|
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr)
|
rs192866993
|
0.00001
|
NM_000294.3(PHKG2):c.95+11G>A
|
rs886051910
|
0.00001
|
NM_000298.6(PKLR):c.*275C>T
|
rs886045350
|
0.00001
|
NM_000298.6(PKLR):c.-31G>A
|
rs778164541
|
0.00001
|
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)
|
rs765903674
|
0.00001
|
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)
|
rs763466930
|
0.00001
|
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
|
rs768210809
|
0.00001
|
NM_000308.4(CTSA):c.-42C>T
|
rs765245462
|
0.00001
|
NM_000308.4(CTSA):c.1366G>A (p.Gly456Ser)
|
rs200051553
|
0.00001
|
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter)
|
rs766114836
|
0.00001
|
NM_000308.4(CTSA):c.839C>T (p.Pro280Leu)
|
rs778824488
|
0.00001
|
NM_000340.2(SLC2A2):c.*1086G>A
|
rs185726034
|
0.00001
|
NM_000340.2(SLC2A2):c.*11C>G
|
rs761913998
|
0.00001
|
NM_000340.2(SLC2A2):c.*166G>A
|
rs1232606277
|
0.00001
|
NM_000340.2(SLC2A2):c.*568A>T
|
rs886058173
|
0.00001
|
NM_000340.2(SLC2A2):c.1221T>C (p.Phe407=)
|
rs775605288
|
0.00001
|
NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His)
|
rs75144723
|
0.00001
|
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr)
|
rs1373290524
|
0.00001
|
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=)
|
rs5401
|
0.00001
|
NM_000340.2(SLC2A2):c.580C>G (p.Leu194Val)
|
rs779065938
|
0.00001
|
NM_000343.3(SLC5A1):c.-238G>A
|
rs1349973469
|
0.00001
|
NM_000343.4(SLC5A1):c.*1408G>A
|
rs1243897828
|
0.00001
|
NM_000343.4(SLC5A1):c.*1595A>C
|
rs1232699809
|
0.00001
|
NM_000343.4(SLC5A1):c.*1755T>G
|
rs886057413
|
0.00001
|
NM_000343.4(SLC5A1):c.*2201G>A
|
rs1394513769
|
0.00001
|
NM_000343.4(SLC5A1):c.*2694A>G
|
rs1379735549
|
0.00001
|
NM_000343.4(SLC5A1):c.*599C>T
|
rs2094055488
|
0.00001
|
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr)
|
rs774741107
|
0.00001
|
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
|
rs1229387697
|
0.00001
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
|
rs1475148938
|
0.00001
|
NM_000343.4(SLC5A1):c.208-13T>A
|
rs200261297
|
0.00001
|
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile)
|
rs777779839
|
0.00001
|
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp)
|
rs1336341879
|
0.00001
|
NM_000352.6(ABCC8):c.148+3G>A
|
rs996321405
|
0.00001
|
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr)
|
rs886048054
|
0.00001
|
NM_000352.6(ABCC8):c.1924-9C>T
|
rs1218098329
|
0.00001
|
NM_000352.6(ABCC8):c.2256-3C>T
|
rs756328102
|
0.00001
|
NM_000352.6(ABCC8):c.2694+15G>A
|
rs886048051
|
0.00001
|
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)
|
rs780868010
|
0.00001
|
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu)
|
rs775087568
|
0.00001
|
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr)
|
rs745895362
|
0.00001
|
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)
|
rs771538281
|
0.00001
|
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=)
|
rs144207158
|
0.00001
|
NM_000352.6(ABCC8):c.3558-8C>T
|
rs544550330
|
0.00001
|
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)
|
rs765708759
|
0.00001
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)
|
rs547430068
|
0.00001
|
NM_000352.6(ABCC8):c.4545+9T>C
|
rs775018351
|
0.00001
|
NM_000352.6(ABCC8):c.507C>T (p.Phe169=)
|
rs755745806
|
0.00001
|
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu)
|
rs368894930
|
0.00001
|
NM_000352.6(ABCC8):c.933G>C (p.Leu311=)
|
rs776498313
|
0.00001
|
NM_000365.6(TPI1):c.*239C>T
|
rs886049811
|
0.00001
|
NM_000365.6(TPI1):c.*69C>T
|
rs782061169
|
0.00001
|
NM_000365.6(TPI1):c.1A>G (p.Met1Val)
|
rs201432576
|
0.00001
|
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)
|
rs781891192
|
0.00001
|
NM_000404.3(GLB1):c.-73C>T
|
rs530326876
|
0.00001
|
NM_000404.4(GLB1):c.534G>A (p.Gly178=)
|
rs928862880
|
0.00001
|
NM_000404.4(GLB1):c.553-8A>G
|
rs886058342
|
0.00001
|
NM_000411.8(HLCS):c.-393+7C>T
|
rs886057081
|
0.00001
|
NM_000434.3(NEU1):c.-49C>T
|
rs374172739
|
0.00001
|
NM_000434.4(NEU1):c.-13G>A
|
rs886061291
|
0.00001
|
NM_000434.4(NEU1):c.1089A>G (p.Leu363=)
|
rs757684373
|
0.00001
|
NM_000434.4(NEU1):c.1217T>A (p.Val406Glu)
|
rs1762428314
|
0.00001
|
NM_000434.4(NEU1):c.474T>G (p.Cys158Trp)
|
rs886061289
|
0.00001
|
NM_000434.4(NEU1):c.826G>A (p.Val276Ile)
|
rs199697301
|
0.00001
|
NM_000434.4(NEU1):c.888T>C (p.Tyr296=)
|
rs754422982
|
0.00001
|
NM_000458.4(HNF1B):c.*789T>C
|
rs886052887
|
0.00001
|
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr)
|
rs772315985
|
0.00001
|
NM_000458.4(HNF1B):c.96G>A (p.Glu32=)
|
rs778229703
|
0.00001
|
NM_000507.4(FBP1):c.397G>A (p.Val133Ile)
|
rs368583779
|
0.00001
|
NM_000507.4(FBP1):c.443C>A (p.Pro148His)
|
rs753167849
|
0.00001
|
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp)
|
rs369420846
|
0.00001
|
NM_000507.4(FBP1):c.705A>G (p.Pro235=)
|
rs112446147
|
0.00001
|
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln)
|
rs775808681
|
0.00001
|
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala)
|
rs758841300
|
0.00001
|
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn)
|
rs201508880
|
0.00001
|
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys)
|
rs1564191912
|
0.00001
|
NM_000512.5(GALNS):c.*144T>C
|
rs1157099470
|
0.00001
|
NM_000512.5(GALNS):c.*186C>G
|
rs1032068378
|
0.00001
|
NM_000512.5(GALNS):c.*20C>G
|
rs886052454
|
0.00001
|
NM_000512.5(GALNS):c.*503T>G
|
rs573836350
|
0.00001
|
NM_000512.5(GALNS):c.*639T>G
|
rs1186947306
|
0.00001
|
NM_000512.5(GALNS):c.*86C>T
|
rs897826613
|
0.00001
|
NM_000512.5(GALNS):c.1003-10T>C
|
rs753249472
|
0.00001
|
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)
|
rs886052456
|
0.00001
|
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe)
|
rs368784505
|
0.00001
|
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp)
|
rs762690924
|
0.00001
|
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr)
|
rs763093375
|
0.00001
|
NM_000512.5(GALNS):c.952A>T (p.Met318Leu)
|
rs537013895
|
0.00001
|
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
|
rs762154863
|
0.00001
|
NM_000525.4(KCNJ11):c.*1220G>A
|
rs1457465996
|
0.00001
|
NM_000525.4(KCNJ11):c.*1562A>G
|
rs886048031
|
0.00001
|
NM_000525.4(KCNJ11):c.*701A>T
|
rs5207
|
0.00001
|
NM_000525.4(KCNJ11):c.-37C>T
|
rs753392628
|
0.00001
|
NM_000525.4(KCNJ11):c.-515G>A
|
rs886048044
|
0.00001
|
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro)
|
rs797045635
|
0.00001
|
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=)
|
rs1450567888
|
0.00001
|
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)
|
rs202238153
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_000528.4(MAN2B1):c.-19A>G
|
rs886054234
|
0.00001
|
NM_000528.4(MAN2B1):c.1026+8C>T
|
rs199908179
|
0.00001
|
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)
|
rs747081586
|
0.00001
|
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
|
rs772742355
|
0.00001
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
|
rs775212002
|
0.00001
|
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
|
rs2023694204
|
0.00001
|
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr)
|
rs750137512
|
0.00001
|
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
|
rs200872797
|
0.00001
|
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=)
|
rs886054232
|
0.00001
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)
|
rs772562587
|
0.00001
|
NM_000545.8(HNF1A):c.-4A>G
|
rs561269721
|
0.00001
|
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=)
|
rs762669462
|
0.00001
|
NM_000642.3(AGL):c.*1047A>T
|
rs886044930
|
0.00001
|
NM_000642.3(AGL):c.*1860G>T
|
rs1433664193
|
0.00001
|
NM_000642.3(AGL):c.*1971T>C
|
rs139068984
|
0.00001
|
NM_000642.3(AGL):c.*229A>G
|
rs979215337
|
0.00001
|
NM_000642.3(AGL):c.*257C>A
|
rs1355749991
|
0.00001
|
NM_000642.3(AGL):c.*680T>A
|
rs886044928
|
0.00001
|
NM_000642.3(AGL):c.*682A>G
|
rs1177397896
|
0.00001
|
NM_000642.3(AGL):c.1050G>A (p.Met350Ile)
|
rs140872573
|
0.00001
|
NM_000642.3(AGL):c.1284-12A>C
|
rs886044918
|
0.00001
|
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser)
|
rs188519129
|
0.00001
|
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)
|
rs765749454
|
0.00001
|
NM_000642.3(AGL):c.2905T>C (p.Tyr969His)
|
rs1336583652
|
0.00001
|
NM_000642.3(AGL):c.318C>T (p.Tyr106=)
|
rs376885398
|
0.00001
|
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
|
rs372709840
|
0.00001
|
NM_000642.3(AGL):c.4362T>C (p.Pro1454=)
|
rs886044922
|
0.00001
|
NM_000642.3(AGL):c.515G>C (p.Cys172Ser)
|
rs766234642
|
0.00001
|
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
|
rs943273443
|
0.00001
|
NM_000642.3(AGL):c.958+12A>G
|
rs1227779911
|
0.00001
|
NM_000891.3(KCNJ2):c.*1030C>T
|
rs1310873825
|
0.00001
|
NM_000891.3(KCNJ2):c.*1361C>A
|
rs1191660760
|
0.00001
|
NM_000891.3(KCNJ2):c.*1412G>A
|
rs886053331
|
0.00001
|
NM_000891.3(KCNJ2):c.*3025G>A
|
rs536788614
|
0.00001
|
NM_000891.3(KCNJ2):c.*3352T>A
|
rs886053345
|
0.00001
|
NM_000891.3(KCNJ2):c.*39C>T
|
rs1196218333
|
0.00001
|
NM_000891.3(KCNJ2):c.*687A>C
|
rs886053329
|
0.00001
|
NM_000891.3(KCNJ2):c.-361G>C
|
rs984704301
|
0.00001
|
NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg)
|
rs760459401
|
0.00001
|
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys)
|
rs529080615
|
0.00001
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)
|
rs758092571
|
0.00001
|
NM_000925.4(PDHB):c.*199T>G
|
rs886058777
|
0.00001
|
NM_000925.4(PDHB):c.*365T>A
|
rs1023863848
|
0.00001
|
NM_000925.4(PDHB):c.*77C>T
|
rs766780930
|
0.00001
|
NM_000925.4(PDHB):c.-12G>A
|
rs758352130
|
0.00001
|
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
|
rs768436316
|
0.00001
|
NM_000925.4(PDHB):c.11T>C (p.Val4Ala)
|
rs751921912
|
0.00001
|
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
|
rs772939767
|
0.00001
|
NM_000925.4(PDHB):c.45C>G (p.Val15=)
|
rs747916943
|
0.00001
|
NM_001008216.2(GALE):c.-77+168T>G
|
rs924261949
|
0.00001
|
NM_001008216.2(GALE):c.192G>A (p.Glu64=)
|
rs748354696
|
0.00001
|
NM_001008216.2(GALE):c.238-6C>T
|
rs751079525
|
0.00001
|
NM_001008216.2(GALE):c.648G>A (p.Ala216=)
|
rs144723215
|
0.00001
|
NM_001008216.2(GALE):c.955G>C (p.Gly319Arg)
|
rs752384408
|
0.00001
|
NM_001040716.2(PC):c.*161C>T
|
rs886048554
|
0.00001
|
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
|
rs371922891
|
0.00001
|
NM_001040716.2(PC):c.3148-14C>T
|
rs773784306
|
0.00001
|
NM_001040716.2(PC):c.3364G>C (p.Asp1122His)
|
rs745961257
|
0.00001
|
NM_001040716.2(PC):c.64G>A (p.Ala22Thr)
|
rs767170503
|
0.00001
|
NM_001040716.2(PC):c.78C>A (p.Ser26=)
|
rs1161512784
|
0.00001
|
NM_001040716.2(PC):c.927C>T (p.Thr309=)
|
rs373717650
|
0.00001
|
NM_001041.4(SI):c.1147-6T>A
|
rs146539849
|
0.00001
|
NM_001041.4(SI):c.118+11C>T
|
rs767898820
|
0.00001
|
NM_001041.4(SI):c.1278+11A>G
|
rs756042084
|
0.00001
|
NM_001041.4(SI):c.1796C>T (p.Ala599Val)
|
rs747388124
|
0.00001
|
NM_001041.4(SI):c.2510C>T (p.Thr837Ile)
|
rs755263405
|
0.00001
|
NM_001041.4(SI):c.2681A>G (p.Glu894Gly)
|
rs756233137
|
0.00001
|
NM_001041.4(SI):c.2738T>C (p.Val913Ala)
|
rs1712193715
|
0.00001
|
NM_001041.4(SI):c.2985A>G (p.Ile995Met)
|
rs766550125
|
0.00001
|
NM_001041.4(SI):c.315G>T (p.Trp105Cys)
|
rs138564183
|
0.00001
|
NM_001041.4(SI):c.3309G>A (p.Ser1103=)
|
rs765589827
|
0.00001
|
NM_001041.4(SI):c.3423+11A>G
|
rs770815174
|
0.00001
|
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr)
|
rs761717351
|
0.00001
|
NM_001041.4(SI):c.5304G>A (p.Arg1768=)
|
rs772347173
|
0.00001
|
NM_001041.4(SI):c.59T>A (p.Val20Asp)
|
rs771580575
|
0.00001
|
NM_001041.4(SI):c.611T>C (p.Ile204Thr)
|
rs377040463
|
0.00001
|
NM_001041.4(SI):c.952G>A (p.Gly318Ser)
|
rs749095854
|
0.00001
|
NM_001041.4(SI):c.963G>A (p.Leu321=)
|
rs562469691
|
0.00001
|
NM_001164277.2(SLC37A4):c.*138C>T
|
rs867580827
|
0.00001
|
NM_001164277.2(SLC37A4):c.*283T>C
|
rs886047746
|
0.00001
|
NM_001164277.2(SLC37A4):c.*338T>C
|
rs1014083666
|
0.00001
|
NM_001164277.2(SLC37A4):c.-279C>T
|
rs886047752
|
0.00001
|
NM_001164277.2(SLC37A4):c.-50T>G
|
rs886047750
|
0.00001
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)
|
rs776272750
|
0.00001
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr)
|
rs886051894
|
0.00001
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
NM_001352514.2(HLCS):c.*1766G>A
|
rs537534748
|
0.00001
|
NM_001352514.2(HLCS):c.*2434G>T
|
rs886057062
|
0.00001
|
NM_001352514.2(HLCS):c.*2700C>T
|
rs140135359
|
0.00001
|
NM_001352514.2(HLCS):c.*2847G>A
|
rs1269300334
|
0.00001
|
NM_001352514.2(HLCS):c.*3043A>G
|
rs539444862
|
0.00001
|
NM_001352514.2(HLCS):c.*3209C>T
|
rs886057059
|
0.00001
|
NM_001352514.2(HLCS):c.*448G>C
|
rs772947158
|
0.00001
|
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala)
|
rs1259711297
|
0.00001
|
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln)
|
rs886057076
|
0.00001
|
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile)
|
rs144116568
|
0.00001
|
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=)
|
rs745670538
|
0.00001
|
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys)
|
rs148981273
|
0.00001
|
NM_001352514.2(HLCS):c.500A>G (p.His167Arg)
|
rs577182758
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
NM_001360016.2(G6PD):c.*535G>T
|
rs1057515820
|
0.00001
|
NM_001360016.2(G6PD):c.485+13G>A
|
rs781898381
|
0.00001
|
NM_001360016.2(G6PD):c.645-12C>T
|
rs1020037412
|
0.00001
|
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)
|
rs587780414
|
0.00001
|
NM_001370658.1(BTD):c.*57T>A
|
rs886058118
|
0.00001
|
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)
|
rs886058115
|
0.00001
|
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu)
|
rs375239909
|
0.00001
|
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)
|
rs778785164
|
0.00001
|
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys)
|
rs747489101
|
0.00001
|
NM_001715.2(BLK):c.-267C>T
|
rs886062591
|
0.00001
|
NM_001715.2(BLK):c.-375G>A
|
rs886062590
|
0.00001
|
NM_001715.2(BLK):c.-484G>A
|
rs761744676
|
0.00001
|
NM_001715.3(BLK):c.*366G>A
|
rs977140703
|
0.00001
|
NM_001715.3(BLK):c.*461G>A
|
rs1204192053
|
0.00001
|
NM_001715.3(BLK):c.1046C>T (p.Ala349Val)
|
rs759976637
|
0.00001
|
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser)
|
rs142803179
|
0.00001
|
NM_001715.3(BLK):c.1252G>A (p.Val418Met)
|
rs373565757
|
0.00001
|
NM_001715.3(BLK):c.1308C>T (p.Tyr436=)
|
rs886062596
|
0.00001
|
NM_001715.3(BLK):c.677A>C (p.Gln226Pro)
|
rs551088779
|
0.00001
|
NM_001715.3(BLK):c.892C>T (p.Arg298Ter)
|
rs745877998
|
0.00001
|
NM_002076.3(GNS):c.-161T>C
|
rs769119181
|
0.00001
|
NM_002076.4(GNS):c.*1435G>A
|
rs547333907
|
0.00001
|
NM_002076.4(GNS):c.*2571T>C
|
rs995044057
|
0.00001
|
NM_002076.4(GNS):c.*2699G>C
|
rs867153534
|
0.00001
|
NM_002076.4(GNS):c.*334C>T
|
rs886049771
|
0.00001
|
NM_002076.4(GNS):c.*764G>A
|
rs886049767
|
0.00001
|
NM_002076.4(GNS):c.*826G>A
|
rs886049766
|
0.00001
|
NM_002076.4(GNS):c.*86A>T
|
rs1868866389
|
0.00001
|
NM_002076.4(GNS):c.*985A>G
|
rs531715804
|
0.00001
|
NM_002076.4(GNS):c.-83G>C
|
rs1290374156
|
0.00001
|
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
|
rs766168524
|
0.00001
|
NM_002076.4(GNS):c.1261C>T (p.Arg421Cys)
|
rs1177531995
|
0.00001
|
NM_002076.4(GNS):c.1616G>A (p.Arg539His)
|
rs766615352
|
0.00001
|
NM_002076.4(GNS):c.337A>G (p.Thr113Ala)
|
rs886049772
|
0.00001
|
NM_002076.4(GNS):c.73G>A (p.Ala25Thr)
|
rs540537083
|
0.00001
|
NM_002103.5(GYS1):c.*110G>A
|
rs1008518917
|
0.00001
|
NM_002103.5(GYS1):c.*413G>A
|
rs1296511627
|
0.00001
|
NM_002103.5(GYS1):c.*472G>A
|
rs886054566
|
0.00001
|
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile)
|
rs751121252
|
0.00001
|
NM_002103.5(GYS1):c.1169+13C>T
|
rs775362871
|
0.00001
|
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
|
rs748765779
|
0.00001
|
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
|
rs751382433
|
0.00001
|
NM_002103.5(GYS1):c.1308+5G>A
|
rs779587345
|
0.00001
|
NM_002103.5(GYS1):c.1810-14C>T
|
rs2038529046
|
0.00001
|
NM_002103.5(GYS1):c.1872G>A (p.Glu624=)
|
rs1421512196
|
0.00001
|
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu)
|
rs886054569
|
0.00001
|
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp)
|
rs886054568
|
0.00001
|
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
|
rs773065230
|
0.00001
|
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly)
|
rs2038838431
|
0.00001
|
NM_002103.5(GYS1):c.942-9G>A
|
rs762629200
|
0.00001
|
NM_002294.3(LAMP2):c.*238G>A
|
rs2058520973
|
0.00001
|
NM_002294.3(LAMP2):c.*3276C>T
|
rs1043524915
|
0.00001
|
NM_002299.4(LCT):c.*275A>G
|
rs1008625417
|
0.00001
|
NM_002299.4(LCT):c.1004C>G (p.Thr335Ser)
|
rs1428765941
|
0.00001
|
NM_002299.4(LCT):c.1116G>A (p.Ala372=)
|
rs200277615
|
0.00001
|
NM_002299.4(LCT):c.1902C>T (p.Pro634=)
|
rs202014246
|
0.00001
|
NM_002299.4(LCT):c.1931C>T (p.Thr644Ile)
|
rs546741050
|
0.00001
|
NM_002299.4(LCT):c.2177G>A (p.Arg726His)
|
rs886054866
|
0.00001
|
NM_002299.4(LCT):c.280G>A (p.Ala94Thr)
|
rs139740186
|
0.00001
|
NM_002299.4(LCT):c.319G>A (p.Glu107Lys)
|
rs761296720
|
0.00001
|
NM_002299.4(LCT):c.3483C>T (p.Asn1161=)
|
rs143927262
|
0.00001
|
NM_002299.4(LCT):c.3599C>T (p.Thr1200Met)
|
rs148317168
|
0.00001
|
NM_002299.4(LCT):c.4922T>C (p.Val1641Ala)
|
rs557029000
|
0.00001
|
NM_002299.4(LCT):c.5529C>T (p.Pro1843=)
|
rs761696901
|
0.00001
|
NM_002299.4(LCT):c.5655C>T (p.Tyr1885=)
|
rs1483785677
|
0.00001
|
NM_002299.4(LCT):c.5771T>C (p.Val1924Ala)
|
rs886054861
|
0.00001
|
NM_002299.4(LCT):c.643G>A (p.Gly215Arg)
|
rs886054869
|
0.00001
|
NM_002299.4(LCT):c.677T>C (p.Ile226Thr)
|
rs747805112
|
0.00001
|
NM_002300.8(LDHB):c.129+11A>G
|
rs886049166
|
0.00001
|
NM_002300.8(LDHB):c.421+7T>C
|
rs375249355
|
0.00001
|
NM_002300.8(LDHB):c.422-10A>G
|
rs886049165
|
0.00001
|
NM_002300.8(LDHB):c.727A>G (p.Ile243Val)
|
rs750220072
|
0.00001
|
NM_002300.8(LDHB):c.826A>G (p.Thr276Ala)
|
rs200158121
|
0.00001
|
NM_002500.4(NEUROD1):c.*1583T>C
|
rs1035423254
|
0.00001
|
NM_002500.4(NEUROD1):c.-102G>A
|
rs886055328
|
0.00001
|
NM_002500.5(NEUROD1):c.*370_*371insT
|
rs886055326
|
0.00001
|
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp)
|
rs774325551
|
0.00001
|
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys)
|
rs763871039
|
0.00001
|
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val)
|
rs369575066
|
0.00001
|
NM_002500.5(NEUROD1):c.473G>A (p.Arg158His)
|
rs1422349580
|
0.00001
|
NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys)
|
rs1284904822
|
0.00001
|
NM_002591.4(PCK1):c.*528C>G
|
rs886056803
|
0.00001
|
NM_002591.4(PCK1):c.407-11G>A
|
rs775923881
|
0.00001
|
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys)
|
rs782491605
|
0.00001
|
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile)
|
rs782651487
|
0.00001
|
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
|
rs369728544
|
0.00001
|
NM_002863.5(PYGL):c.1403T>A (p.Val468Glu)
|
rs143571464
|
0.00001
|
NM_002863.5(PYGL):c.2380-15A>G
|
rs886050537
|
0.00001
|
NM_002863.5(PYGL):c.2481C>T (p.Asn827=)
|
rs755274555
|
0.00001
|
NM_002863.5(PYGL):c.704T>C (p.Met235Thr)
|
rs200920293
|
0.00001
|
NM_002863.5(PYGL):c.910A>G (p.Thr304Ala)
|
rs774143179
|
0.00001
|
NM_003041.4(SLC5A2):c.1021+14C>T
|
rs1349979357
|
0.00001
|
NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala)
|
rs534057160
|
0.00001
|
NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=)
|
rs761863294
|
0.00001
|
NM_003041.4(SLC5A2):c.1449+13C>A
|
rs769589113
|
0.00001
|
NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=)
|
rs767926604
|
0.00001
|
NM_003041.4(SLC5A2):c.1792+12T>C
|
rs886051963
|
0.00001
|
NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser)
|
rs201073991
|
0.00001
|
NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=)
|
rs755803144
|
0.00001
|
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr)
|
rs775638719
|
0.00001
|
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His)
|
rs886051960
|
0.00001
|
NM_003051.4(SLC16A1):c.*1018T>G
|
rs774371594
|
0.00001
|
NM_003051.4(SLC16A1):c.*1134G>A
|
rs778106916
|
0.00001
|
NM_003051.4(SLC16A1):c.*137A>T
|
rs1223206132
|
0.00001
|
NM_003051.4(SLC16A1):c.*815G>A
|
rs556305447
|
0.00001
|
NM_003051.4(SLC16A1):c.-163T>C
|
rs886045088
|
0.00001
|
NM_003051.4(SLC16A1):c.-87C>T
|
rs886045087
|
0.00001
|
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr)
|
rs756006376
|
0.00001
|
NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=)
|
rs17852382
|
0.00001
|
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser)
|
rs1461742764
|
0.00001
|
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=)
|
rs775755027
|
0.00001
|
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg)
|
rs549501840
|
0.00001
|
NM_003384.3(VRK1):c.*281G>A
|
rs1889257279
|
0.00001
|
NM_003384.3(VRK1):c.*302T>C
|
rs1294884447
|
0.00001
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
NM_003477.3(PDHX):c.*742C>T
|
rs577566893
|
0.00001
|
NM_003477.3(PDHX):c.-7C>T
|
rs751680964
|
0.00001
|
NM_003477.3(PDHX):c.1164A>G (p.Glu388=)
|
rs766725349
|
0.00001
|
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala)
|
rs748511132
|
0.00001
|
NM_003597.5(KLF11):c.*131G>A
|
rs545836068
|
0.00001
|
NM_003597.5(KLF11):c.*1463A>G
|
rs1572448681
|
0.00001
|
NM_003597.5(KLF11):c.*1636C>T
|
rs886054735
|
0.00001
|
NM_003597.5(KLF11):c.*1725G>C
|
rs374263399
|
0.00001
|
NM_003597.5(KLF11):c.*2103G>A
|
rs1056465665
|
0.00001
|
NM_003597.5(KLF11):c.-31G>A
|
rs886054721
|
0.00001
|
NM_003597.5(KLF11):c.1046C>T (p.Pro349Leu)
|
rs886054723
|
0.00001
|
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu)
|
rs775364750
|
0.00001
|
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr)
|
rs868399686
|
0.00001
|
NM_003597.5(KLF11):c.18C>T (p.Phe6=)
|
rs886054722
|
0.00001
|
NM_003597.5(KLF11):c.259A>G (p.Met87Val)
|
rs757905542
|
0.00001
|
NM_003597.5(KLF11):c.25C>T (p.Pro9Ser)
|
rs1377863567
|
0.00001
|
NM_003597.5(KLF11):c.501C>T (p.Pro167=)
|
rs377399356
|
0.00001
|
NM_003597.5(KLF11):c.928T>C (p.Ser310Pro)
|
rs759266535
|
0.00001
|
NM_003619.4(PRSS12):c.*1435A>G
|
rs1247361243
|
0.00001
|
NM_003619.4(PRSS12):c.*1499A>G
|
rs748542086
|
0.00001
|
NM_003619.4(PRSS12):c.*658C>T
|
rs549172615
|
0.00001
|
NM_003619.4(PRSS12):c.*904A>T
|
rs1025703450
|
0.00001
|
NM_003619.4(PRSS12):c.1195C>T (p.Arg399Cys)
|
rs139059047
|
0.00001
|
NM_003619.4(PRSS12):c.1293-10A>G
|
rs374374471
|
0.00001
|
NM_003619.4(PRSS12):c.1903A>G (p.Lys635Glu)
|
rs937952328
|
0.00001
|
NM_003619.4(PRSS12):c.1975C>T (p.Leu659Phe)
|
rs377739049
|
0.00001
|
NM_003619.4(PRSS12):c.315C>T (p.Phe105=)
|
rs776809807
|
0.00001
|
NM_003619.4(PRSS12):c.518G>A (p.Arg173His)
|
rs764862487
|
0.00001
|
NM_003619.4(PRSS12):c.821-12C>G
|
rs373973695
|
0.00001
|
NM_005271.5(GLUD1):c.*1181C>A
|
rs542298445
|
0.00001
|
NM_005271.5(GLUD1):c.*1436G>A
|
rs886047369
|
0.00001
|
NM_005271.5(GLUD1):c.*469C>A
|
rs566474794
|
0.00001
|
NM_005271.5(GLUD1):c.*496G>A
|
rs886047372
|
0.00001
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
NM_005327.4(HADH):c.-86G>T
|
rs528952923
|
0.00001
|
NM_005327.7(HADH):c.*279C>A
|
rs1290272212
|
0.00001
|
NM_005327.7(HADH):c.*383G>C
|
rs550706321
|
0.00001
|
NM_005327.7(HADH):c.-36C>T
|
rs746854470
|
0.00001
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
NM_005327.7(HADH):c.823G>A (p.Asp275Asn)
|
rs150766162
|
0.00001
|
NM_005566.4(LDHA):c.*175C>T
|
rs886048089
|
0.00001
|
NM_005566.4(LDHA):c.*228G>A
|
rs1341687956
|
0.00001
|
NM_005566.4(LDHA):c.*253G>A
|
rs758268446
|
0.00001
|
NM_005566.4(LDHA):c.*312G>A
|
rs200982215
|
0.00001
|
NM_005566.4(LDHA):c.*706G>A
|
rs757942016
|
0.00001
|
NM_005566.4(LDHA):c.*914A>G
|
rs147174554
|
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.30T>C (p.Tyr10=)
|
rs768444502
|
0.00001
|
NM_005566.4(LDHA):c.47A>G (p.Glu16Gly)
|
rs1264619847
|
0.00001
|
NM_005609.3(PYGM):c.-234C>T
|
rs886048466
|
0.00001
|
NM_005609.4(PYGM):c.*80G>A
|
rs1245399507
|
0.00001
|
NM_005609.4(PYGM):c.1011G>A (p.Gln337=)
|
rs767039732
|
0.00001
|
NM_005609.4(PYGM):c.1092+15C>T
|
rs1319046232
|
0.00001
|
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln)
|
rs548646628
|
0.00001
|
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)
|
rs1315020035
|
0.00001
|
NM_005609.4(PYGM):c.1748A>G (p.His583Arg)
|
rs760543538
|
0.00001
|
NM_005609.4(PYGM):c.2082C>T (p.Asp694=)
|
rs773543072
|
0.00001
|
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
|
rs1045215677
|
0.00001
|
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln)
|
rs577589879
|
0.00001
|
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)
|
rs377401213
|
0.00001
|
NM_005609.4(PYGM):c.256C>T (p.Leu86=)
|
rs541817643
|
0.00001
|
NM_005609.4(PYGM):c.389C>T (p.Ala130Val)
|
rs200430286
|
0.00001
|
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn)
|
rs551666681
|
0.00001
|
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu)
|
rs773595572
|
0.00001
|
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser)
|
rs886048463
|
0.00001
|
NM_005908.4(MANBA):c.*184A>G
|
rs886058967
|
0.00001
|
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)
|
rs199966543
|
0.00001
|
NM_005908.4(MANBA):c.1112+8A>C
|
rs752741187
|
0.00001
|
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
|
rs927918838
|
0.00001
|
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile)
|
rs561172083
|
0.00001
|
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala)
|
rs778853902
|
0.00001
|
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
|
rs1730293546
|
0.00001
|
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
|
rs180816849
|
0.00001
|
NM_006488.3(KHK):c.*52C>T
|
rs747976594
|
0.00001
|
NM_006488.3(KHK):c.*791G>A
|
rs886055894
|
0.00001
|
NM_006488.3(KHK):c.*810A>C
|
rs543665606
|
0.00001
|
NM_006488.3(KHK):c.101C>A (p.Ser34Tyr)
|
rs746381366
|
0.00001
|
NM_006488.3(KHK):c.210-200A>G
|
rs1482514899
|
0.00001
|
NM_006488.3(KHK):c.463G>A (p.Ala155Thr)
|
rs776211460
|
0.00001
|
NM_006488.3(KHK):c.499C>T (p.Arg167Trp)
|
rs886055887
|
0.00001
|
NM_006488.3(KHK):c.818G>A (p.Ser273Asn)
|
rs575951862
|
0.00001
|
NM_006488.3(KHK):c.866G>A (p.Cys289Tyr)
|
rs201037118
|
0.00001
|
NM_006516.2(SLC2A1):c.-272G>A
|
rs886046344
|
0.00001
|
NM_006516.4(SLC2A1):c.*107G>A
|
rs1643432524
|
0.00001
|
NM_006516.4(SLC2A1):c.*1205C>T
|
rs886046331
|
0.00001
|
NM_006516.4(SLC2A1):c.*1321T>A
|
rs1222650517
|
0.00001
|
NM_006516.4(SLC2A1):c.*775A>G
|
rs779010320
|
0.00001
|
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=)
|
rs748983257
|
0.00001
|
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val)
|
rs1399284513
|
0.00001
|
NM_006569.6(CGREF1):c.*628A>C
|
rs1276594858
|
0.00001
|
NM_006721.4(ADK):c.*114T>C
|
rs560409958
|
0.00001
|
NM_006721.4(ADK):c.*729T>G
|
rs1307744498
|
0.00001
|
NM_006721.4(ADK):c.220A>G (p.Lys74Glu)
|
rs201786575
|
0.00001
|
NM_006721.4(ADK):c.66-24009G>T
|
rs886047234
|
0.00001
|
NM_006721.4(ADK):c.763-9T>C
|
rs780824505
|
0.00001
|
NM_006755.1(TALDO1):c.-37T>C
|
rs886048655
|
0.00001
|
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met)
|
rs758756190
|
0.00001
|
NM_006755.2(TALDO1):c.402C>T (p.Ile134=)
|
rs886048663
|
0.00001
|
NM_006755.2(TALDO1):c.480C>T (p.His160=)
|
rs200500899
|
0.00001
|
NM_006755.2(TALDO1):c.48C>T (p.Asp16=)
|
rs886048658
|
0.00001
|
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys)
|
rs760782027
|
0.00001
|
NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu)
|
rs1823271331
|
0.00001
|
NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu)
|
rs770585067
|
0.00001
|
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr)
|
rs758049256
|
0.00001
|
NM_012434.5(SLC17A5):c.*1206G>A
|
rs1239251189
|
0.00001
|
NM_012434.5(SLC17A5):c.*1450G>A
|
rs886061727
|
0.00001
|
NM_012434.5(SLC17A5):c.*478C>T
|
rs886061733
|
0.00001
|
NM_012434.5(SLC17A5):c.*488G>A
|
rs1216079110
|
0.00001
|
NM_012434.5(SLC17A5):c.*587C>T
|
rs1303568875
|
0.00001
|
NM_012434.5(SLC17A5):c.*817G>A
|
rs886061731
|
0.00001
|
NM_012434.5(SLC17A5):c.*837C>T
|
rs886061730
|
0.00001
|
NM_012434.5(SLC17A5):c.*901C>T
|
rs886061729
|
0.00001
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
NM_015957.4(APIP):c.-1C>T
|
rs774565620
|
0.00001
|
NM_016042.4(EXOSC3):c.*312T>G
|
rs1044154281
|
0.00001
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
NM_016203.4(PRKAG2):c.186+7C>T
|
rs886062102
|
0.00001
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
NM_016219.5(MAN1B1):c.*389C>G
|
rs1489403973
|
0.00001
|
NM_016219.5(MAN1B1):c.*404T>C
|
rs759863657
|
0.00001
|
NM_016219.5(MAN1B1):c.*587C>G
|
rs946716926
|
0.00001
|
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=)
|
rs776601946
|
0.00001
|
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=)
|
rs754107444
|
0.00001
|
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys)
|
rs756140103
|
0.00001
|
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=)
|
rs150436630
|
0.00001
|
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=)
|
rs746212127
|
0.00001
|
NM_016219.5(MAN1B1):c.41C>T (p.Ser14Phe)
|
rs776658507
|
0.00001
|
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala)
|
rs763520482
|
0.00001
|
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=)
|
rs1430903884
|
0.00001
|
NM_016219.5(MAN1B1):c.780A>G (p.Ala260=)
|
rs151136979
|
0.00001
|
NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser)
|
rs573766677
|
0.00001
|
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)
|
rs750236367
|
0.00001
|
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp)
|
rs777884272
|
0.00001
|
NM_017755.6(NSUN2):c.*85G>A
|
rs1429279900
|
0.00001
|
NM_017755.6(NSUN2):c.1310A>G (p.Lys437Arg)
|
rs375923267
|
0.00001
|
NM_017755.6(NSUN2):c.2059C>T (p.Arg687Ter)
|
rs886060728
|
0.00001
|
NM_017755.6(NSUN2):c.989C>G (p.Ala330Gly)
|
rs373663619
|
0.00001
|
NM_020897.3(HCN3):c.*1330G>T
|
rs886045348
|
0.00001
|
NM_020897.3(HCN3):c.*832C>T
|
rs917244300
|
0.00001
|
NM_021957.4(GYS2):c.*408A>G
|
rs1180052815
|
0.00001
|
NM_021957.4(GYS2):c.*520A>G
|
rs886049153
|
0.00001
|
NM_021957.4(GYS2):c.-109G>A
|
rs1424660561
|
0.00001
|
NM_021957.4(GYS2):c.1230-5T>G
|
rs777032042
|
0.00001
|
NM_021957.4(GYS2):c.1423-1G>A
|
rs202043849
|
0.00001
|
NM_021957.4(GYS2):c.154G>A (p.Ala52Thr)
|
rs886049162
|
0.00001
|
NM_021957.4(GYS2):c.1974dup (p.Val659fs)
|
rs1181756742
|
0.00001
|
NM_021957.4(GYS2):c.534A>G (p.Gln178=)
|
rs750100480
|
0.00001
|
NM_021957.4(GYS2):c.612C>A (p.Thr204=)
|
rs758427436
|
0.00001
|
NM_021957.4(GYS2):c.942-7del
|
rs537907545
|
0.00001
|
NM_021957.4(GYS2):c.948C>T (p.Leu316=)
|
rs374841625
|
0.00001
|
NM_022042.4(SLC26A1):c.*876C>T
|
rs546988577
|
0.00001
|
NM_022895.3(C12orf43):c.*1871A>G
|
rs1045819255
|
0.00001
|
NM_033159.4(HYAL1):c.-5G>A
|
rs368638384
|
0.00001
|
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)
|
rs781838448
|
0.00001
|
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)
|
rs104893743
|
0.00001
|
NM_053013.4(ENO3):c.363G>A (p.Ala121=)
|
rs201872558
|
0.00001
|
NM_053013.4(ENO3):c.785A>G (p.Lys262Arg)
|
rs886053166
|
0.00001
|
NM_080749.4(NEURL2):c.-101G>C
|
rs558829056
|
0.00001
|
NM_080749.4(NEURL2):c.-98del
|
rs886056711
|
0.00001
|
NM_138413.4(HOGA1):c.-224G>A
|
rs1176162564
|
0.00001
|
NM_138413.4(HOGA1):c.212-6T>C
|
rs372066473
|
0.00001
|
NM_138413.4(HOGA1):c.933C>T (p.Pro311=)
|
rs561984280
|
0.00001
|
NM_144563.3(RPIA):c.*728T>C
|
rs1006392866
|
0.00001
|
NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)
|
rs773038072
|
0.00001
|
NM_144563.3(RPIA):c.55C>A (p.Pro19Thr)
|
rs756750653
|
0.00001
|
NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)
|
rs201938367
|
0.00001
|
NM_152419.3(HGSNAT):c.*160C>T
|
rs886062955
|
0.00001
|
NM_152419.3(HGSNAT):c.*1841G>A
|
rs886062962
|
0.00001
|
NM_152419.3(HGSNAT):c.*2305A>G
|
rs886062963
|
0.00001
|
NM_152419.3(HGSNAT):c.*2756G>A
|
rs564747354
|
0.00001
|
NM_152419.3(HGSNAT):c.*2801C>G
|
rs886062964
|
0.00001
|
NM_152419.3(HGSNAT):c.*2967C>T
|
rs549454910
|
0.00001
|
NM_152419.3(HGSNAT):c.*3241A>G
|
rs886062966
|
0.00001
|
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)
|
rs886062953
|
0.00001
|
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)
|
rs770462636
|
0.00001
|
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)
|
rs483352894
|
0.00001
|
NM_152419.3(HGSNAT):c.563+3A>G
|
rs753027018
|
0.00001
|
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
|
rs1355715592
|
0.00001
|
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)
|
rs758464800
|
0.00001
|
NM_175914.5(HNF4A):c.*2511A>G
|
rs1277613130
|
0.00001
|
NM_175914.5(HNF4A):c.*2558T>C
|
rs886056688
|
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.*765G>A
|
rs886056681
|
0.00001
|
NM_175914.5(HNF4A):c.*782G>A
|
rs886056682
|
0.00001
|
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly)
|
rs779555087
|
0.00001
|
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)
|
rs771156648
|
0.00001
|
NM_175914.5(HNF4A):c.723G>C (p.Arg241=)
|
rs372639360
|
0.00001
|
NM_198586.3(NHLRC1):c.*537T>C
|
rs935643502
|
0.00001
|
NM_198586.3(NHLRC1):c.*61C>A
|
rs886061252
|
0.00001
|
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)
|
rs372993582
|
0.00001
|
NM_000027.3(AGA):c.-127_-123delGGGAC
|
rs886059265
|
|
NM_000027.4(AGA):c.*13G>C
|
rs1736640377
|
|
NM_000027.4(AGA):c.*35G>C
|
rs767154296
|
|
NM_000027.4(AGA):c.*680G>A
|
rs886059259
|
|
NM_000027.4(AGA):c.*819CT[2]
|
rs146345347
|
|
NM_000027.4(AGA):c.*851G>A
|
rs186184411
|
|
NM_000027.4(AGA):c.*856C>G
|
rs1736607561
|
|
NM_000027.4(AGA):c.*915G>A
|
rs745380599
|
|
NM_000027.4(AGA):c.248G>A (p.Gly83Glu)
|
rs903884327
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
NM_000027.4(AGA):c.449C>T (p.Ala150Val)
|
rs1202403932
|
|
NM_000027.4(AGA):c.535T>C (p.Cys179Arg)
|
rs1187962299
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.571G>C (p.Asp191His)
|
rs766110192
|
|
NM_000027.4(AGA):c.698+1G>T
|
rs1057517175
|
|
NM_000027.4(AGA):c.699-7C>T
|
rs886059260
|
|
NM_000027.4(AGA):c.806+13_806+16del
|
rs369977700
|
|
NM_000027.4(AGA):c.95A>C (p.Asn32Thr)
|
rs886059262
|
|
NM_000030.3(AGXT):c.*162A>G
|
rs886055844
|
|
NM_000030.3(AGXT):c.*194A>T
|
rs2059043450
|
|
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp)
|
rs2059038329
|
|
NM_000030.3(AGXT):c.1065G>C (p.Thr355=)
|
rs143488099
|
|
NM_000030.3(AGXT):c.165+12G>C
|
rs201989825
|
|
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu)
|
rs761756536
|
|
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)
|
rs375712696
|
|
NM_000030.3(AGXT):c.32C>A (p.Pro11His)
|
rs34116584
|
|
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu)
|
rs528938116
|
|
NM_000030.3(AGXT):c.524+3G>A
|
rs886055839
|
|
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln)
|
rs200317876
|
|
NM_000035.4(ALDOB):c.*145A>G
|
rs552865615
|
|
NM_000035.4(ALDOB):c.*150del
|
rs200345626
|
|
NM_000035.4(ALDOB):c.*26C>T
|
rs1831050459
|
|
NM_000035.4(ALDOB):c.*289C>G
|
rs886063290
|
|
NM_000035.4(ALDOB):c.*683T>C
|
rs1831039987
|
|
NM_000035.4(ALDOB):c.*714A>G
|
rs886063289
|
|
NM_000035.4(ALDOB):c.*729G>C
|
rs1831039466
|
|
NM_000035.4(ALDOB):c.*802A>G
|
rs886063288
|
|
NM_000035.4(ALDOB):c.113-7A>C
|
rs1588172399
|
|
NM_000035.4(ALDOB):c.178C>A (p.Arg60=)
|
rs118204429
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
NM_000035.4(ALDOB):c.375T>C (p.Ile125=)
|
rs886063292
|
|
NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn)
|
rs752810910
|
|
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
|
rs773334784
|
|
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)
|
rs773334784
|
|
NM_000035.4(ALDOB):c.529A>G (p.Ile177Val)
|
rs139442303
|
|
NM_000035.4(ALDOB):c.680C>A (p.Thr227Asn)
|
rs371219301
|
|
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
|
rs146360505
|
|
NM_000046.3(ARSB):c.-1015A>G
|
rs886060801
|
|
NM_000046.3(ARSB):c.-855dup
|
rs574333268
|
|
NM_000046.4(ARSB):c.-112G>C
|
rs886060798
|
|
NM_000046.4(ARSB):c.-276T>C
|
rs534158632
|
|
NM_000046.5(ARSB):c.*1147G>A
|
rs886060792
|
|
NM_000046.5(ARSB):c.*1276C>G
|
rs886060790
|
|
NM_000046.5(ARSB):c.*1286C>T
|
rs886060789
|
|
NM_000046.5(ARSB):c.*1360T>A
|
rs886060788
|
|
NM_000046.5(ARSB):c.*1372dup
|
rs551749278
|
|
NM_000046.5(ARSB):c.*1387C>T
|
rs555581069
|
|
NM_000046.5(ARSB):c.*1499C>G
|
rs886060787
|
|
NM_000046.5(ARSB):c.*1539dup
|
rs886060785
|
|
NM_000046.5(ARSB):c.*1899dup
|
rs886060784
|
|
NM_000046.5(ARSB):c.*1989C>T
|
rs878926507
|
|
NM_000046.5(ARSB):c.*2080G>A
|
rs886060783
|
|
NM_000046.5(ARSB):c.*2092A>T
|
rs1748827572
|
|
NM_000046.5(ARSB):c.*2155C>T
|
rs1748825888
|
|
NM_000046.5(ARSB):c.*2158C>T
|
rs1463642631
|
|
NM_000046.5(ARSB):c.*2524A>T
|
rs868066675
|
|
NM_000046.5(ARSB):c.*2525A>T
|
rs867923783
|
|
NM_000046.5(ARSB):c.*2543_*2545dup
|
rs397976147
|
|
NM_000046.5(ARSB):c.*2578A>T
|
rs548093605
|
|
NM_000046.5(ARSB):c.*2593T>G
|
rs1748811214
|
|
NM_000046.5(ARSB):c.*2637_*2639dup
|
rs886060781
|
|
NM_000046.5(ARSB):c.*3147G>A
|
rs1425606069
|
|
NM_000046.5(ARSB):c.*3174T>G
|
rs886060777
|
|
NM_000046.5(ARSB):c.*3181T>A
|
rs11750774
|
|
NM_000046.5(ARSB):c.*340A>C
|
rs1234619423
|
|
NM_000046.5(ARSB):c.*420A>G
|
rs1748876744
|
|
NM_000046.5(ARSB):c.*608G>A
|
rs886060796
|
|
NM_000046.5(ARSB):c.*619G>T
|
rs886060795
|
|
NM_000046.5(ARSB):c.*793T>A
|
rs886060794
|
|
NM_000046.5(ARSB):c.*922C>T
|
rs201284766
|
|
NM_000046.5(ARSB):c.1214-15A>T
|
rs1353542088
|
|
NM_000046.5(ARSB):c.347C>A (p.Pro116His)
|
rs775780931
|
|
NM_000046.5(ARSB):c.790C>A (p.His264Asn)
|
rs558569339
|
|
NM_000108.5(DLD):c.*1027T>G
|
rs372098056
|
|
NM_000108.5(DLD):c.*1088A>G
|
rs886061912
|
|
NM_000108.5(DLD):c.*1231A>G
|
rs2032385167
|
|
NM_000108.5(DLD):c.*167T>C
|
rs886061909
|
|
NM_000108.5(DLD):c.*374G>T
|
rs576270082
|
|
NM_000108.5(DLD):c.*470G>A
|
rs111619940
|
|
NM_000108.5(DLD):c.*498T>G
|
rs886061911
|
|
NM_000108.5(DLD):c.*898C>T
|
rs2032373871
|
|
NM_000108.5(DLD):c.-10C>T
|
rs1269120569
|
|
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
|
rs2032312825
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
|
rs2031981415
|
|
NM_000147.5(FUCA1):c.*286C>A
|
rs886046324
|
|
NM_000147.5(FUCA1):c.*438_*442del
|
rs886046323
|
|
NM_000147.5(FUCA1):c.*544T>A
|
rs886046321
|
|
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)
|
rs1393793214
|
|
NM_000147.5(FUCA1):c.167C>G (p.Ala56Gly)
|
rs886046325
|
|
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)
|
rs1639658693
|
|
NM_000147.5(FUCA1):c.389+15G>C
|
rs1395597191
|
|
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)
|
rs1639606764
|
|
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
|
rs1639604269
|
|
NM_000147.5(FUCA1):c.4C>A (p.Arg2=)
|
rs2070955
|
|
NM_000151.4(G6PC1):c.*1458C>T
|
rs2056105397
|
|
NM_000151.4(G6PC1):c.*1466T>C
|
rs2056105442
|
|
NM_000151.4(G6PC1):c.*1514G>A
|
rs111309126
|
|
NM_000151.4(G6PC1):c.*1527C>T
|
rs966575521
|
|
NM_000151.4(G6PC1):c.*1550G>T
|
rs1324359967
|
|
NM_000151.4(G6PC1):c.*1552A>T
|
rs138968865
|
|
NM_000151.4(G6PC1):c.*1640G>T
|
rs556943624
|
|
NM_000151.4(G6PC1):c.*1901A>G
|
rs2056108046
|
|
NM_000151.4(G6PC1):c.*2081T>A
|
rs2056108904
|
|
NM_000151.4(G6PC1):c.*2501C>G
|
rs886052964
|
|
NM_000151.4(G6PC1):c.*2519G>T
|
rs886052965
|
|
NM_000151.4(G6PC1):c.*251C>T
|
rs753206089
|
|
NM_000151.4(G6PC1):c.*2611C>T
|
rs186556135
|
|
NM_000151.4(G6PC1):c.*2687del
|
rs113390675
|
|
NM_000151.4(G6PC1):c.*2857C>T
|
rs2056113291
|
|
NM_000151.4(G6PC1):c.*286A>G
|
rs886052959
|
|
NM_000151.4(G6PC1):c.*2980A>G
|
rs2056113916
|
|
NM_000151.4(G6PC1):c.*492A>C
|
rs532485841
|
|
NM_000151.4(G6PC1):c.*703G>A
|
rs375295552
|
|
NM_000151.4(G6PC1):c.*714A>G
|
rs886052961
|
|
NM_000151.4(G6PC1):c.*887T>C
|
rs2056101326
|
|
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn)
|
rs746978011
|
|
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)
|
rs145749644
|
|
NM_000151.4(G6PC1):c.230+11T>C
|
rs756151664
|
|
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln)
|
rs886052956
|
|
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)
|
rs1597991619
|
|
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val)
|
rs756944737
|
|
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile)
|
rs201649392
|
|
NM_000151.4(G6PC1):c.993G>C (p.Ala331=)
|
rs369238258
|
|
NM_000152.5(GAA):c.*128T>C
|
rs886053549
|
|
NM_000152.5(GAA):c.*219G>A
|
rs1216535924
|
|
NM_000152.5(GAA):c.*309C>T
|
rs886053550
|
|
NM_000152.5(GAA):c.*313C>G
|
rs926145648
|
|
NM_000152.5(GAA):c.*82C>T
|
rs745999686
|
|
NM_000152.5(GAA):c.-325C>T
|
rs1402918119
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
NM_000152.5(GAA):c.1320G>C (p.Met440Ile)
|
rs550837627
|
|
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro)
|
rs2039195201
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)
|
rs2039279293
|
|
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln)
|
rs886053546
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe)
|
rs773667152
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
NM_000152.5(GAA):c.54C>T (p.Leu18=)
|
rs886053542
|
|
NM_000152.5(GAA):c.667C>T (p.Arg223Cys)
|
rs886043961
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000154.2(GALK1):c.-27A>C
|
rs767223937
|
|
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
|
rs766401384
|
|
NM_000154.2(GALK1):c.787C>T (p.Leu263=)
|
rs886053420
|
|
NM_000155.3(GALT):c.-38G>A
|
rs886063883
|
|
NM_000155.4(GALT):c.*138C>T
|
rs1821232966
|
|
NM_000155.4(GALT):c.*18C>G
|
rs771618527
|
|
NM_000155.4(GALT):c.*96A>C
|
rs967576667
|
|
NM_000155.4(GALT):c.409G>A (p.Val137Ile)
|
rs1821146618
|
|
NM_000155.4(GALT):c.450T>A (p.Val150=)
|
rs886063884
|
|
NM_000155.4(GALT):c.936C>G (p.Asn312Lys)
|
rs771975129
|
|
NM_000158.3(GBE1):c.-195G>T
|
rs886058904
|
|
NM_000158.4(GBE1):c.*388T>A
|
rs1702416693
|
|
NM_000158.4(GBE1):c.*44T>A
|
rs1702420526
|
|
NM_000158.4(GBE1):c.*494A>C
|
rs145934828
|
|
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)
|
rs1703917500
|
|
NM_000158.4(GBE1):c.144-7T>C
|
rs886058902
|
|
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)
|
rs771241994
|
|
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
|
rs1703085718
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys)
|
rs886058901
|
|
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
|
rs1350258947
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)
|
rs1553684545
|
|
NM_000162.5(GCK):c.*270C>T
|
rs886062348
|
|
NM_000162.5(GCK):c.*548G>A
|
rs886062347
|
|
NM_000162.5(GCK):c.*721C>T
|
rs886062346
|
|
NM_000162.5(GCK):c.*844A>C
|
rs886062344
|
|
NM_000162.5(GCK):c.-102G>C
|
rs781377703
|
|
NM_000162.5(GCK):c.-137C>G
|
rs2096324530
|
|
NM_000162.5(GCK):c.-396C>G
|
rs2096324894
|
|
NM_000162.5(GCK):c.-456G>A
|
rs757266656
|
|
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
|
rs1000236360
|
|
NM_000162.5(GCK):c.1120G>T (p.Val374Leu)
|
rs1415041911
|
|
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly)
|
rs1257648811
|
|
NM_000162.5(GCK):c.363+10G>C
|
rs758495950
|
|
NM_000162.5(GCK):c.675C>T (p.Ile225=)
|
rs772754004
|
|
NM_000162.5(GCK):c.680-14G>C
|
rs577968084
|
|
NM_000162.5(GCK):c.792C>A (p.Gly264=)
|
rs754094813
|
|
NM_000181.4(GUSB):c.*12A>G
|
rs769514976
|
|
NM_000181.4(GUSB):c.*148A>G
|
rs568655640
|
|
NM_000181.4(GUSB):c.*154G>A
|
rs1790427973
|
|
NM_000181.4(GUSB):c.*208T>C
|
rs190201470
|
|
NM_000181.4(GUSB):c.*208T>G
|
rs190201470
|
|
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala)
|
rs1355624664
|
|
NM_000181.4(GUSB):c.1245-4G>T
|
rs548368848
|
|
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)
|
rs1302470051
|
|
NM_000181.4(GUSB):c.1790-18dup
|
rs750022485
|
|
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)
|
rs1790444883
|
|
NM_000181.4(GUSB):c.45G>A (p.Leu15=)
|
rs886062404
|
|
NM_000181.4(GUSB):c.531C>A (p.Thr177=)
|
rs1392513223
|
|
NM_000199.5(SGSH):c.*1008C>T
|
rs886053553
|
|
NM_000199.5(SGSH):c.*1078A>G
|
rs886053552
|
|
NM_000199.5(SGSH):c.*452G>A
|
rs886053556
|
|
NM_000199.5(SGSH):c.*69C>T
|
rs576879796
|
|
NM_000199.5(SGSH):c.*712G>T
|
rs1360057013
|
|
NM_000199.5(SGSH):c.*891A>G
|
rs903251344
|
|
NM_000199.5(SGSH):c.*95A>T
|
rs2041585066
|
|
NM_000199.5(SGSH):c.*978C>T
|
rs886053554
|
|
NM_000199.5(SGSH):c.-12G>A
|
rs1598772757
|
|
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)
|
rs1064794815
|
|
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser)
|
rs886053559
|
|
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn)
|
rs886053558
|
|
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)
|
rs780969693
|
|
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)
|
rs1281022554
|
|
NM_000199.5(SGSH):c.506+13G>T
|
rs201177560
|
|
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)
|
rs200644359
|
|
NM_000199.5(SGSH):c.658G>C (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn)
|
rs886053560
|
|
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly)
|
rs1314742501
|
|
NM_000199.5(SGSH):c.89-18_89-15del
|
rs768357480
|
|
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)
|
rs747197522
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)
|
rs370442463
|
|
NM_000203.5(IDUA):c.*100A>G
|
rs1049376214
|
|
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro)
|
rs754095810
|
|
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn)
|
rs886059750
|
|
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val)
|
rs1715142270
|
|
NM_000203.5(IDUA):c.130C>A (p.Arg44=)
|
rs558851990
|
|
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.1650+12T>C
|
rs1715248390
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000203.5(IDUA):c.1651-7C>A
|
rs934115207
|
|
NM_000203.5(IDUA):c.1727+9G>T
|
rs771420258
|
|
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His)
|
rs1715312209
|
|
NM_000203.5(IDUA):c.348G>A (p.Gly116=)
|
rs1715016939
|
|
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys)
|
rs577729544
|
|
NM_000203.5(IDUA):c.44C>T (p.Ala15Val)
|
rs886059749
|
|
NM_000203.5(IDUA):c.493+6C>T
|
rs376738689
|
|
NM_000203.5(IDUA):c.494-43C>T
|
|
|
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser)
|
rs1715096263
|
|
NM_000203.5(IDUA):c.793-10C>G
|
rs886059754
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
NM_000203.5(IDUA):c.837C>T (p.Val279=)
|
rs758749484
|
|
NM_000203.5(IDUA):c.964G>T (p.Val322Leu)
|
rs1433608644
|
|
NM_000207.3(INS):c.-18+3C>G
|
rs886048112
|
|
NM_000207.3(INS):c.187+15C>A
|
rs754089310
|
|
NM_000207.3(INS):c.188-3C>A
|
rs886048111
|
|
NM_000262.3(NAGA):c.*1090G>A
|
rs886057594
|
|
NM_000262.3(NAGA):c.*1299C>T
|
rs886057592
|
|
NM_000262.3(NAGA):c.*1484A>G
|
rs1433090840
|
|
NM_000262.3(NAGA):c.*1789del
|
rs10713176
|
|
NM_000262.3(NAGA):c.*1862C>A
|
rs1926176961
|
|
NM_000262.3(NAGA):c.*730T>C
|
rs1926239462
|
|
NM_000262.3(NAGA):c.*926C>G
|
rs886057595
|
|
NM_000262.3(NAGA):c.-306C>A
|
rs886057598
|
|
NM_000262.3(NAGA):c.-496G>C
|
rs886057599
|
|
NM_000262.3(NAGA):c.-502A>C
|
rs886057600
|
|
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)
|
rs186173534
|
|
NM_000262.3(NAGA):c.486C>G (p.Pro162=)
|
rs760003063
|
|
NM_000263.3(NAGLU):c.-78C>G
|
rs886052951
|
|
NM_000263.3(NAGLU):c.-82T>C
|
rs886052950
|
|
NM_000263.4(NAGLU):c.*174A>G
|
rs896549130
|
|
NM_000263.4(NAGLU):c.*198del
|
rs747726415
|
|
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val)
|
rs886052952
|
|
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
|
rs759978970
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser)
|
rs2092930793
|
|
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg)
|
rs1240470839
|
|
NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp)
|
rs1344891508
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000284.4(PDHA1):c.*1624T>C
|
rs2063283398
|
|
NM_000284.4(PDHA1):c.*198G>A
|
rs1003909173
|
|
NM_000289.5(PFKM):c.-176C>T
|
rs886049451
|
|
NM_000289.5(PFKM):c.-64C>T
|
rs886049452
|
|
NM_000289.6(PFKM):c.*134G>A
|
rs886049456
|
|
NM_000289.6(PFKM):c.*489T>A
|
rs886049457
|
|
NM_000289.6(PFKM):c.*503G>T
|
rs747797192
|
|
NM_000289.6(PFKM):c.*564G>A
|
rs1951034681
|
|
NM_000289.6(PFKM):c.*98G>A
|
rs886049455
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
|
rs1950621584
|
|
NM_000289.6(PFKM):c.360C>T (p.Gly120=)
|
rs886049453
|
|
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg)
|
rs1191913196
|
|
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu)
|
rs528467394
|
|
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=)
|
rs376134077
|
|
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
|
rs199869174
|
|
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu)
|
rs372452057
|
|
NM_000291.4(PGK1):c.576G>C (p.Lys192Asn)
|
|
|
NM_000293.3(PHKB):c.*1007G>A
|
rs1047494618
|
|
NM_000293.3(PHKB):c.*1105T>C
|
rs1365256572
|
|
NM_000293.3(PHKB):c.*1253A>G
|
rs1974232128
|
|
NM_000293.3(PHKB):c.*1262A>C
|
rs886052030
|
|
NM_000293.3(PHKB):c.*2104T>C
|
rs886052033
|
|
NM_000293.3(PHKB):c.*221C>T
|
rs1974213779
|
|
NM_000293.3(PHKB):c.*405G>T
|
rs1597192442
|
|
NM_000293.3(PHKB):c.*523T>C
|
rs886052027
|
|
NM_000293.3(PHKB):c.1117A>G (p.Met373Val)
|
rs1972067736
|
|
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln)
|
rs1372877925
|
|
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met)
|
rs1973024428
|
|
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr)
|
rs886052022
|
|
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val)
|
rs192099645
|
|
NM_000293.3(PHKB):c.1964G>A (p.Arg655His)
|
rs756158798
|
|
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu)
|
rs1597159344
|
|
NM_000293.3(PHKB):c.239A>G (p.Gln80Arg)
|
rs886052020
|
|
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg)
|
rs886052023
|
|
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys)
|
rs766073838
|
|
NM_000293.3(PHKB):c.2832A>G (p.Arg944=)
|
rs1974096940
|
|
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile)
|
rs1974189408
|
|
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys)
|
rs375008974
|
|
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg)
|
rs763764574
|
|
NM_000293.3(PHKB):c.703C>T (p.His235Tyr)
|
rs886052021
|
|
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu)
|
rs748242735
|
|
NM_000293.3(PHKB):c.716T>C (p.Val239Ala)
|
rs761032231
|
|
NM_000294.2(PHKG2):c.-118G>A
|
rs1361898035
|
|
NM_000294.2(PHKG2):c.-162C>T
|
rs938838075
|
|
NM_000294.3(PHKG2):c.-76G>C
|
rs2053281054
|
|
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=)
|
rs747926397
|
|
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr)
|
rs886051914
|
|
NM_000294.3(PHKG2):c.271+14C>T
|
rs572169140
|
|
NM_000294.3(PHKG2):c.448G>A (p.Val150Met)
|
rs886051911
|
|
NM_000294.3(PHKG2):c.556+11C>G
|
rs2053379816
|
|
NM_000294.3(PHKG2):c.928-9C>G
|
rs886051913
|
|
NM_000294.3(PHKG2):c.96-7C>G
|
rs898984695
|
|
NM_000298.6(PKLR):c.*13T>G
|
rs1052177
|
|
NM_000298.6(PKLR):c.*14C>G
|
rs8177994
|
|
NM_000298.6(PKLR):c.*351T>A
|
rs886045349
|
|
NM_000298.6(PKLR):c.*356T>C
|
rs1674470980
|
|
NM_000298.6(PKLR):c.*500C>T
|
rs1674463281
|
|
NM_000298.6(PKLR):c.1117-4C>G
|
rs1572054195
|
|
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)
|
rs886045353
|
|
NM_000298.6(PKLR):c.284-9T>C
|
rs886045352
|
|
NM_000298.6(PKLR):c.376-11C>G
|
rs1647538523
|
|
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)
|
rs1220156417
|
|
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
|
rs199824528
|
|
NM_000298.6(PKLR):c.639G>T (p.Val213=)
|
rs750102822
|
|
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)
|
rs1557959063
|
|
NM_000298.6(PKLR):c.966-12C>T
|
rs1188767860
|
|
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)
|
rs763964110
|
|
NM_000298.6(PKLR):c.972T>C (p.Asp324=)
|
rs8177974
|
|
NM_000308.4(CTSA):c.195-7dup
|
rs780400265
|
|
NM_000308.4(CTSA):c.358-5T>G
|
rs375266196
|
|
NM_000308.4(CTSA):c.54G>C (p.Leu18=)
|
rs181943893
|
|
NM_000308.4(CTSA):c.574A>C (p.Met192Leu)
|
rs1987042851
|
|
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter)
|
rs767712946
|
|
NM_000340.1(SLC2A2):c.-238A>G
|
rs551728717
|
|
NM_000340.2(SLC2A2):c.*1164T>C
|
rs886058171
|
|
NM_000340.2(SLC2A2):c.*1201T>C
|
rs1219326448
|
|
NM_000340.2(SLC2A2):c.*1531A>G
|
rs958370410
|
|
NM_000340.2(SLC2A2):c.*254T>G
|
rs910326054
|
|
NM_000340.2(SLC2A2):c.*325del
|
rs886058174
|
|
NM_000340.2(SLC2A2):c.*607del
|
rs563605045
|
|
NM_000340.2(SLC2A2):c.*698T>A
|
rs1715118520
|
|
NM_000340.2(SLC2A2):c.*7_*8dup (p.Ter525=)
|
rs573575421
|
|
NM_000340.2(SLC2A2):c.*83A>T
|
rs993283861
|
|
NM_000340.2(SLC2A2):c.*8del (p.Ter525=)
|
rs573575421
|
|
NM_000340.2(SLC2A2):c.*94del
|
rs886058175
|
|
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del)
|
rs772999215
|
|
NM_000340.2(SLC2A2):c.15+6G>A
|
rs886058177
|
|
NM_000340.2(SLC2A2):c.372-4T>C
|
rs769607196
|
|
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
|
rs1293130515
|
|
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met)
|
rs149460434
|
|
NM_000340.2(SLC2A2):c.639C>T (p.Gly213=)
|
rs886058176
|
|
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del)
|
rs774721090
|
|
NM_000343.3(SLC5A1):c.-23G>A
|
rs886057400
|
|
NM_000343.4(SLC5A1):c.*1251G>T
|
rs886057411
|
|
NM_000343.4(SLC5A1):c.*1346A>G
|
rs886057412
|
|
NM_000343.4(SLC5A1):c.*1522T>G
|
rs2094057473
|
|
NM_000343.4(SLC5A1):c.*155C>T
|
rs886057405
|
|
NM_000343.4(SLC5A1):c.*183G>C
|
rs886057406
|
|
NM_000343.4(SLC5A1):c.*2352A>T
|
rs2094059162
|
|
NM_000343.4(SLC5A1):c.*2411C>G
|
rs2094059315
|
|
NM_000343.4(SLC5A1):c.*2612T>C
|
rs2094059794
|
|
NM_000343.4(SLC5A1):c.*510G>A
|
rs886057408
|
|
NM_000343.4(SLC5A1):c.*715del
|
rs777276040
|
|
NM_000343.4(SLC5A1):c.-11dup
|
rs541991193
|
|
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr)
|
rs770382788
|
|
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter)
|
rs200206252
|
|
NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg)
|
rs886057402
|
|
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys)
|
rs2094032479
|
|
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg)
|
rs886057403
|
|
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu)
|
rs1334755356
|
|
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala)
|
rs2094042528
|
|
NM_000343.4(SLC5A1):c.1772-5C>A
|
rs886057404
|
|
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser)
|
rs200684333
|
|
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val)
|
rs139037092
|
|
NM_000352.6(ABCC8):c.*93T>A
|
rs886048046
|
|
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe)
|
rs1956875186
|
|
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=)
|
rs1956635063
|
|
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)
|
rs370169777
|
|
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val)
|
rs1956631543
|
|
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=)
|
rs886048055
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2117-10C>A
|
rs886048053
|
|
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=)
|
rs201724038
|
|
NM_000352.6(ABCC8):c.2256-9C>T
|
rs886048052
|
|
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro)
|
rs776248166
|
|
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)
|
rs1354438772
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.3558-6C>G
|
rs886048050
|
|
NM_000352.6(ABCC8):c.3650+4C>G
|
rs374315114
|
|
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=)
|
rs886048049
|
|
NM_000352.6(ABCC8):c.3989-3C>G
|
rs1324242791
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4199-8C>T
|
rs886048048
|
|
NM_000352.6(ABCC8):c.4307+13A>C
|
rs886048047
|
|
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val)
|
rs1953847411
|
|
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)
|
rs780203284
|
|
NM_000352.6(ABCC8):c.580-7C>A
|
rs771196330
|
|
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn)
|
rs1957204723
|
|
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr)
|
rs1433841842
|
|
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val)
|
rs763302648
|
|
NM_000365.6(TPI1):c.*134C>A
|
rs782308993
|
|
NM_000365.6(TPI1):c.*173G>A
|
rs1191018741
|
|
NM_000365.6(TPI1):c.*520T>C
|
rs1944574698
|
|
NM_000365.6(TPI1):c.*541dup
|
rs201871949
|
|
NM_000365.6(TPI1):c.*542_*544del
|
rs782559646
|
|
NM_000365.6(TPI1):c.-29C>T
|
rs181882616
|
|
NM_000365.6(TPI1):c.239+8C>A
|
rs782359362
|
|
NM_000365.6(TPI1):c.558C>T (p.His186=)
|
rs369241009
|
|
NM_000404.4(GLB1):c.*194C>A
|
rs886058340
|
|
NM_000404.4(GLB1):c.*39C>T
|
rs1696328310
|
|
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1603C>G (p.His535Asp)
|
rs886058341
|
|
NM_000404.4(GLB1):c.1735-15TC[7]
|
rs745361874
|
|
NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys)
|
rs767916019
|
|
NM_000404.4(GLB1):c.376A>G (p.Ile126Val)
|
rs886058343
|
|
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
|
rs757982518
|
|
NM_000434.4(NEU1):c.*644A>G
|
rs1435821332
|
|
NM_000434.4(NEU1):c.*69G>A
|
rs1762424496
|
|
NM_000434.4(NEU1):c.122C>A (p.Ala41Glu)
|
rs886061290
|
|
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter)
|
rs768711214
|
|
NM_000434.4(NEU1):c.742G>A (p.Gly248Ser)
|
rs373311653
|
|
NM_000458.4(HNF1B):c.*409A>G
|
rs2031989734
|
|
NM_000458.4(HNF1B):c.*585T>C
|
rs886052889
|
|
NM_000458.4(HNF1B):c.-36del
|
rs756559188
|
|
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
|
|
|
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg)
|
rs886052891
|
|
NM_000458.4(HNF1B):c.150T>G (p.Pro50=)
|
rs2034119944
|
|
NM_000458.4(HNF1B):c.1654-11T>C
|
rs193922484
|
|
NM_000458.4(HNF1B):c.1654-14CT[4]
|
rs886052890
|
|
NM_000458.4(HNF1B):c.309G>C (p.Ala103=)
|
rs1197263675
|
|
NM_000458.4(HNF1B):c.438C>T (p.Asn146=)
|
rs2033930573
|
|
NM_000458.4(HNF1B):c.477T>C (p.Pro159=)
|
rs1212716750
|
|
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
|
|
|
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp)
|
rs988279557
|
|
NM_000507.4(FBP1):c.*127C>T
|
rs1827636938
|
|
NM_000507.4(FBP1):c.-208C>G
|
rs759920853
|
|
NM_000507.4(FBP1):c.-54C>A
|
rs1057515690
|
|
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe)
|
rs1427047737
|
|
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu)
|
rs2297085
|
|
NM_000507.4(FBP1):c.826-15G>A
|
rs148942437
|
|
NM_000507.4(FBP1):c.826-15G>T
|
rs148942437
|
|
NM_000507.4(FBP1):c.826-7T>C
|
rs1827646865
|
|
NM_000507.4(FBP1):c.835C>T (p.Leu279=)
|
rs760291471
|
|
NM_000512.5(GALNS):c.*123G>C
|
rs886052453
|
|
NM_000512.5(GALNS):c.*207G>T
|
rs886052452
|
|
NM_000512.5(GALNS):c.*212C>A
|
rs117754023
|
|
NM_000512.5(GALNS):c.*261T>G
|
rs915733731
|
|
NM_000512.5(GALNS):c.*270T>C
|
rs1909389591
|
|
NM_000512.5(GALNS):c.*387T>G
|
rs1909377767
|
|
NM_000512.5(GALNS):c.*520C>A
|
rs80125890
|
|
NM_000512.5(GALNS):c.*70T>C
|
rs933630786
|
|
NM_000512.5(GALNS):c.-10C>G
|
rs781533703
|
|
NM_000512.5(GALNS):c.-58C>A
|
rs1244075467
|
|
NM_000512.5(GALNS):c.-58C>G
|
rs1244075467
|
|
NM_000512.5(GALNS):c.1140-15C>T
|
rs1910644710
|
|
NM_000512.5(GALNS):c.1243-10C>G
|
rs886052455
|
|
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
|
rs763263800
|
|
NM_000512.5(GALNS):c.400G>A (p.Val134Ile)
|
rs886052457
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000512.5(GALNS):c.633+13G>C
|
rs200292757
|
|
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)
|
rs1298604798
|
|
NM_000525.4(KCNJ11):c.*1037G>T
|
rs767140617
|
|
NM_000525.4(KCNJ11):c.*1415G>A
|
rs955060881
|
|
NM_000525.4(KCNJ11):c.*50G>A
|
rs886048041
|
|
NM_000525.4(KCNJ11):c.*678C>T
|
rs886048036
|
|
NM_000525.4(KCNJ11):c.*732C>T
|
rs886048035
|
|
NM_000525.4(KCNJ11):c.*826_*827dup
|
rs886048034
|
|
NM_000525.4(KCNJ11):c.*842C>G
|
rs1591693562
|
|
NM_000525.4(KCNJ11):c.*937C>T
|
rs886048033
|
|
NM_000525.4(KCNJ11):c.*99C>G
|
rs886048040
|
|
NM_000525.4(KCNJ11):c.-150G>A
|
rs886048043
|
|
NM_000525.4(KCNJ11):c.-424C>T
|
rs1953601577
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=)
|
rs1953591194
|
|
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln)
|
rs865963367
|
|
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=)
|
rs886048042
|
|
NM_000528.4(MAN2B1):c.*100T>G
|
rs886054227
|
|
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
|
rs117880912
|
|
NM_000528.4(MAN2B1):c.1110-15C>G
|
rs202085731
|
|
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=)
|
rs886054231
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=)
|
rs745391577
|
|
NM_000528.4(MAN2B1):c.1231-13C>T
|
rs372848519
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.1419+5G>T
|
rs540367946
|
|
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)
|
rs886054230
|
|
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met)
|
rs1211189249
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro)
|
rs146725928
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro)
|
rs1387086908
|
|
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val)
|
rs886054229
|
|
NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg)
|
rs1403072896
|
|
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)
|
rs750997069
|
|
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)
|
rs148108322
|
|
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
|
rs1376771729
|
|
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)
|
rs886054228
|
|
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)
|
rs886054233
|
|
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=)
|
rs2024162767
|
|
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala)
|
rs1877098583
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr)
|
rs1421619915
|
|
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala)
|
rs1877313665
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)
|
rs137853239
|
|
NM_000545.8(HNF1A):c.1768+11C>T
|
rs886049034
|
|
NM_000545.8(HNF1A):c.327-14T>C
|
rs886049033
|
|
NM_000545.8(HNF1A):c.60G>C (p.Gly20=)
|
rs1449504165
|
|
NM_000642.3(AGL):c.*105T>C
|
rs886044924
|
|
NM_000642.3(AGL):c.*1817G>A
|
rs1247253899
|
|
NM_000642.3(AGL):c.*1T>A
|
rs1422276999
|
|
NM_000642.3(AGL):c.*615A>G
|
rs1655565207
|
|
NM_000642.3(AGL):c.*83C>G
|
rs1655526406
|
|
NM_000642.3(AGL):c.-69+1G>C
|
rs1413359590
|
|
NM_000642.3(AGL):c.-82A>G
|
rs1648854148
|
|
NM_000642.3(AGL):c.1284-4A>T
|
rs372612377
|
|
NM_000642.3(AGL):c.1326A>G (p.Glu442=)
|
rs886044919
|
|
NM_000642.3(AGL):c.1794A>G (p.Gly598=)
|
rs1651940013
|
|
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg)
|
rs778021848
|
|
NM_000642.3(AGL):c.344T>C (p.Val115Ala)
|
rs567992352
|
|
NM_000642.3(AGL):c.3569C>G (p.Pro1190Arg)
|
rs1329252752
|
|
NM_000642.3(AGL):c.3589-14T>G
|
rs886044920
|
|
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe)
|
rs772976797
|
|
NM_000642.3(AGL):c.4232C>T (p.Pro1411Leu)
|
rs1655046172
|
|
NM_000642.3(AGL):c.4256del (p.Pro1419fs)
|
rs1557792839
|
|
NM_000642.3(AGL):c.4348-3dup
|
rs886044921
|
|
NM_000642.3(AGL):c.573G>C (p.Lys191Asn)
|
rs781491884
|
|
NM_000891.3(KCNJ2):c.*1226C>G
|
rs749246339
|
|
NM_000891.3(KCNJ2):c.*1345G>A
|
rs141156477
|
|
NM_000891.3(KCNJ2):c.*1449C>T
|
rs2074403807
|
|
NM_000891.3(KCNJ2):c.*1631C>G
|
rs886053333
|
|
NM_000891.3(KCNJ2):c.*1646T>C
|
rs2074404964
|
|
NM_000891.3(KCNJ2):c.*1702_*1704dup
|
rs1555604193
|
|
NM_000891.3(KCNJ2):c.*1702dup
|
rs886053334
|
|
NM_000891.3(KCNJ2):c.*1719_*1721dup
|
rs35753731
|
|
NM_000891.3(KCNJ2):c.*1720_*1721dup
|
rs35753731
|
|
NM_000891.3(KCNJ2):c.*1721dup
|
rs35753731
|
|
NM_000891.3(KCNJ2):c.*2270G>T
|
rs545863243
|
|
NM_000891.3(KCNJ2):c.*2328T>G
|
rs1233305858
|
|
NM_000891.3(KCNJ2):c.*2339G>C
|
rs1273347996
|
|
NM_000891.3(KCNJ2):c.*2343C>T
|
rs536283660
|
|
NM_000891.3(KCNJ2):c.*2370C>T
|
rs2074409675
|
|
NM_000891.3(KCNJ2):c.*2526A>G
|
rs886053337
|
|
NM_000891.3(KCNJ2):c.*2663T>C
|
rs886053338
|
|
NM_000891.3(KCNJ2):c.*2748T>C
|
rs9915768
|
|
NM_000891.3(KCNJ2):c.*2770_*2775del
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2771_*2775del
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2772_*2775del
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2774_*2775del
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2775dup
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2776del
|
rs886053343
|
|
NM_000891.3(KCNJ2):c.*308C>T
|
rs2074395230
|
|
NM_000891.3(KCNJ2):c.*3173C>A
|
rs1467380962
|
|
NM_000891.3(KCNJ2):c.*324del
|
rs570173316
|
|
NM_000891.3(KCNJ2):c.*3391_*3392dup
|
rs552636156
|
|
NM_000891.3(KCNJ2):c.*3463del
|
rs3841509
|
|
NM_000891.3(KCNJ2):c.*596T>A
|
rs886053328
|
|
NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT
|
rs376713253
|
|
NM_000891.3(KCNJ2):c.-258C>T
|
rs886053321
|
|
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly)
|
rs2074386589
|
|
NM_000891.3(KCNJ2):c.344C>T (p.Ala115Val)
|
rs886053323
|
|
NM_000925.4(PDHB):c.*160A>G
|
rs2062883381
|
|
NM_000925.4(PDHB):c.*328A>G
|
rs2062880125
|
|
NM_000925.4(PDHB):c.*366_*367insAA
|
rs886058775
|
|
NM_000925.4(PDHB):c.249T>C (p.Ile83=)
|
rs886058779
|
|
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser)
|
rs886058778
|
|
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys)
|
rs779577082
|
|
NM_000925.4(PDHB):c.793-19_793-14del
|
rs759146810
|
|
NM_000925.4(PDHB):c.93G>T (p.Leu31=)
|
rs886058780
|
|
NM_000925.4(PDHB):c.96+12G>A
|
rs773433623
|
|
NM_001008216.2(GALE):c.*12T>G
|
rs1638931716
|
|
NM_001008216.2(GALE):c.*158G>A
|
rs1343467826
|
|
NM_001008216.2(GALE):c.*326_*328dup
|
rs557214506
|
|
NM_001008216.2(GALE):c.*327A>T
|
rs535702110
|
|
NM_001008216.2(GALE):c.-77+205C>G
|
rs910285433
|
|
NM_001008216.2(GALE):c.330C>T (p.Thr110=)
|
rs377557637
|
|
NM_001008216.2(GALE):c.450G>A (p.Thr150=)
|
rs566884215
|
|
NM_001008216.2(GALE):c.989-13C>T
|
rs199622680
|
|
NM_001039770.3(TMPPE):c.-492C>T
|
rs1233290104
|
|
NM_001039770.3(TMPPE):c.-510T>G
|
rs886058344
|
|
NM_001040716.2(PC):c.*101G>A
|
rs561169212
|
|
NM_001040716.2(PC):c.*164dup
|
rs762257488
|
|
NM_001040716.2(PC):c.*203T>C
|
rs886048553
|
|
NM_001040716.2(PC):c.*88G>A
|
rs1945295941
|
|
NM_001040716.2(PC):c.1023-14C>A
|
rs111858832
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
NM_001040716.2(PC):c.1513+14C>T
|
rs1945613813
|
|
NM_001040716.2(PC):c.1513+6G>A
|
rs566545355
|
|
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu)
|
rs886048556
|
|
NM_001040716.2(PC):c.1825+1G>A
|
rs1565214970
|
|
NM_001040716.2(PC):c.2019C>A (p.Val673=)
|
rs1591119887
|
|
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)
|
rs1945464671
|
|
NM_001040716.2(PC):c.2224-31TC[8]
|
rs139065746
|
|
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn)
|
rs1945442151
|
|
NM_001040716.2(PC):c.2292C>G (p.Pro764=)
|
rs757918962
|
|
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp)
|
rs886048555
|
|
NM_001040716.2(PC):c.2719-5_2719-3del
|
rs566558597
|
|
NM_001040716.2(PC):c.3004G>A (p.Val1002Met)
|
rs1289376036
|
|
NM_001040716.2(PC):c.3288+5T>C
|
rs1945323792
|
|
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
|
rs776825183
|
|
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)
|
rs1298569042
|
|
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)
|
rs144982348
|
|
NM_001040716.2(PC):c.563G>T (p.Gly188Val)
|
rs1946713663
|
|
NM_001040716.2(PC):c.75C>T (p.Ala25=)
|
rs886048557
|
|
NM_001041.3(SI):c.*473G>A
|
rs1717036361
|
|
NM_001041.4(SI):c.*151A>G
|
rs1260115524
|
|
NM_001041.4(SI):c.*229T>C
|
rs886058140
|
|
NM_001041.4(SI):c.1147-13T>A
|
rs771233611
|
|
NM_001041.4(SI):c.1380T>C (p.Ser460=)
|
rs886058148
|
|
NM_001041.4(SI):c.1654T>C (p.Trp552Arg)
|
rs1034161542
|
|
NM_001041.4(SI):c.16T>C (p.Phe6Leu)
|
rs886058151
|
|
NM_001041.4(SI):c.1715+14C>A
|
rs867982218
|
|
NM_001041.4(SI):c.1910T>G (p.Phe637Cys)
|
rs886058147
|
|
NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs)
|
rs967166732
|
|
NM_001041.4(SI):c.2381G>T (p.Gly794Val)
|
rs886058146
|
|
NM_001041.4(SI):c.2428C>A (p.Arg810Ser)
|
rs370537003
|
|
NM_001041.4(SI):c.2737-23_2737-22dup
|
rs11452619
|
|
NM_001041.4(SI):c.2737-8del
|
rs886058145
|
|
NM_001041.4(SI):c.2772A>G (p.Gly924=)
|
rs1712190551
|
|
NM_001041.4(SI):c.2859A>G (p.Gln953=)
|
rs1444268809
|
|
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)
|
rs776569472
|
|
NM_001041.4(SI):c.3540T>C (p.Thr1180=)
|
rs759754319
|
|
NM_001041.4(SI):c.3557G>T (p.Arg1186Leu)
|
rs762898979
|
|
NM_001041.4(SI):c.3729T>C (p.Tyr1243=)
|
rs779155501
|
|
NM_001041.4(SI):c.373+11C>T
|
rs373374968
|
|
NM_001041.4(SI):c.3790G>A (p.Glu1264Lys)
|
rs886058144
|
|
NM_001041.4(SI):c.3836C>T (p.Pro1279Leu)
|
rs886058143
|
|
NM_001041.4(SI):c.3995C>A (p.Ala1332Glu)
|
rs747041492
|
|
NM_001041.4(SI):c.4014G>A (p.Leu1338=)
|
rs1718841872
|
|
NM_001041.4(SI):c.4077T>C (p.His1359=)
|
rs886058142
|
|
NM_001041.4(SI):c.4191G>A (p.Glu1397=)
|
rs886058141
|
|
NM_001041.4(SI):c.4209T>C (p.Asn1403=)
|
rs113826825
|
|
NM_001041.4(SI):c.4267+9T>C
|
rs1718590792
|
|
NM_001041.4(SI):c.4772C>A (p.Pro1591His)
|
rs1717913697
|
|
NM_001041.4(SI):c.4793A>T (p.His1598Leu)
|
rs562705407
|
|
NM_001041.4(SI):c.483+8T>G
|
rs1714387601
|
|
NM_001041.4(SI):c.4841+15T>A
|
rs1041663787
|
|
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)
|
rs145556619
|
|
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)
|
rs145556619
|
|
NM_001041.4(SI):c.5319T>C (p.His1773=)
|
rs774545616
|
|
NM_001041.4(SI):c.635+3A>G
|
rs879204269
|
|
NM_001041.4(SI):c.636-14_636-10del
|
rs886058150
|
|
NM_001042351.3(G6PD):c.-9+14C>G
|
rs2070776414
|
|
NM_001160372.4(TRAPPC9):c.1496-3C>T
|
rs942972668
|
|
NM_001160372.4(TRAPPC9):c.3280-8C>G
|
rs752940904
|
|
NM_001160372.4(TRAPPC9):c.584+1G>A
|
rs1292031022
|
|
NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs)
|
rs886062727
|
|
NM_001164277.2(SLC37A4):c.*139G>T
|
rs886047747
|
|
NM_001164277.2(SLC37A4):c.*360C>G
|
rs886047744
|
|
NM_001164277.2(SLC37A4):c.*5A>C
|
rs373050741
|
|
NM_001164277.2(SLC37A4):c.-108G>A
|
rs536032716
|
|
NM_001164277.2(SLC37A4):c.-195-11G>T
|
rs886047751
|
|
NM_001164277.2(SLC37A4):c.-217G>A
|
rs527772065
|
|
NM_001164277.2(SLC37A4):c.-291del
|
rs754442670
|
|
NM_001164277.2(SLC37A4):c.-384G>A
|
rs886047753
|
|
NM_001164277.2(SLC37A4):c.-439T>C
|
rs1943713097
|
|
NM_001164277.2(SLC37A4):c.-594A>T
|
rs993428424
|
|
NM_001164277.2(SLC37A4):c.-99A>G
|
rs1943684789
|
|
NM_001164277.2(SLC37A4):c.1119C>T (p.Ala373=)
|
rs886047749
|
|
NM_001164277.2(SLC37A4):c.148+7C>T
|
rs782814241
|
|
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val)
|
rs1280285676
|
|
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=)
|
rs1376674013
|
|
NM_001164277.2(SLC37A4):c.382-6C>A
|
rs756248657
|
|
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp)
|
rs752687782
|
|
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=)
|
rs1555191880
|
|
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)
|
rs369399624
|
|
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His)
|
rs201468609
|
|
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His)
|
rs747482925
|
|
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly)
|
rs886051892
|
|
NM_001352514.2(HLCS):c.*1614dup
|
rs886057068
|
|
NM_001352514.2(HLCS):c.*1997G>A
|
rs886057066
|
|
NM_001352514.2(HLCS):c.*2023G>A
|
rs886057065
|
|
NM_001352514.2(HLCS):c.*2267G>T
|
rs886057064
|
|
NM_001352514.2(HLCS):c.*2285G>A
|
rs886057063
|
|
NM_001352514.2(HLCS):c.*2647T>A
|
rs2089366675
|
|
NM_001352514.2(HLCS):c.*270dup
|
rs886057074
|
|
NM_001352514.2(HLCS):c.*2952CT[1]
|
rs886057061
|
|
NM_001352514.2(HLCS):c.*3050A>G
|
rs2089352875
|
|
NM_001352514.2(HLCS):c.*305T>C
|
rs2089455426
|
|
NM_001352514.2(HLCS):c.*3161G>T
|
rs886057060
|
|
NM_001352514.2(HLCS):c.*3162T>A
|
rs552016201
|
|
NM_001352514.2(HLCS):c.*3175A>G
|
rs2089348881
|
|
NM_001352514.2(HLCS):c.*3226del
|
rs35955622
|
|
NM_001352514.2(HLCS):c.*3226dup
|
rs35955622
|
|
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys)
|
rs747688148
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)
|
rs886057079
|
|
NM_001352514.2(HLCS):c.493+9C>A
|
rs886057078
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys)
|
rs2066934793
|
|
NM_001360016.2(G6PD):c.1051+15C>A
|
rs2070358006
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
NM_001360016.2(G6PD):c.297G>A (p.Glu99=)
|
rs2070395767
|
|
NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr)
|
rs367607992
|
|
NM_001365304.2(LOC112694756):c.*888+17del
|
rs886051891
|
|
NM_001366110.1(PAX4):c.*474_*477dup
|
rs1554403669
|
|
NM_001366110.1(PAX4):c.*492_*497del
|
rs886061966
|
|
NM_001366110.1(PAX4):c.*494AC[11]
|
rs36159526
|
|
NM_001366110.1(PAX4):c.*494AC[13]
|
rs36159526
|
|
NM_001366110.1(PAX4):c.*494AC[14]
|
rs36159526
|
|
NM_001366110.1(PAX4):c.*514_*521delinsTGAT
|
rs886061965
|
|
NM_001366110.1(PAX4):c.*518_*521delinsACACTGAT
|
rs886061964
|
|
NM_001366110.1(PAX4):c.*66C>T
|
rs886061967
|
|
NM_001366110.1(PAX4):c.*722T>C
|
rs759186282
|
|
NM_001366110.1(PAX4):c.403C>G (p.Gln135Glu)
|
rs886061969
|
|
NM_001366110.1(PAX4):c.772-13dup
|
rs35434068
|
|
NM_001366110.1(PAX4):c.772-3del
|
rs35434068
|
|
NM_001366110.1(PAX4):c.904C>A (p.Pro302Thr)
|
rs886061968
|
|
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)
|
rs886058116
|
|
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser)
|
rs886058117
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001715.2(BLK):c.*500G>T
|
rs767723868
|
|
NM_001715.2(BLK):c.-440G>A
|
rs554033678
|
|
NM_001715.2(BLK):c.-475A>C
|
rs886062589
|
|
NM_001715.3(BLK):c.*130G>T
|
rs576749814
|
|
NM_001715.3(BLK):c.*161C>G
|
rs886062597
|
|
NM_001715.3(BLK):c.*182del
|
rs570307048
|
|
NM_001715.3(BLK):c.*214C>T
|
rs1585428580
|
|
NM_001715.3(BLK):c.*271G>A
|
rs1343284509
|
|
NM_001715.3(BLK):c.*289G>A
|
rs886062599
|
|
NM_001715.3(BLK):c.*42A>G
|
rs759997593
|
|
NM_001715.3(BLK):c.-9T>C
|
rs886062594
|
|
NM_001715.3(BLK):c.1120T>G (p.Cys374Gly)
|
rs886062595
|
|
NM_001715.3(BLK):c.1208C>T (p.Ala403Val)
|
rs139210041
|
|
NM_001715.3(BLK):c.129C>A (p.Val43=)
|
rs377568491
|
|
NM_001715.3(BLK):c.1374C>T (p.Asp458=)
|
rs376977643
|
|
NM_001715.3(BLK):c.1411G>C (p.Glu471Gln)
|
rs1171913284
|
|
NM_001715.3(BLK):c.311G>T (p.Arg104Ile)
|
rs142298864
|
|
NM_001715.3(BLK):c.824C>T (p.Thr275Ile)
|
rs748444664
|
|
NM_001931.5(DLAT):c.396dup (p.Ala133fs)
|
rs782173047
|
|
NM_002076.3(GNS):c.-168dupC
|
rs145477737
|
|
NM_002076.4(GNS):c.*1580A>G
|
rs886049764
|
|
NM_002076.4(GNS):c.*1809T>C
|
rs1868815358
|
|
NM_002076.4(GNS):c.*1977A>G
|
rs1868809897
|
|
NM_002076.4(GNS):c.*2146G>A
|
rs900823217
|
|
NM_002076.4(GNS):c.*2406A>G
|
rs1868795917
|
|
NM_002076.4(GNS):c.*2489T>C
|
rs529418480
|
|
NM_002076.4(GNS):c.*2787del
|
rs886049760
|
|
NM_002076.4(GNS):c.*37G>T
|
rs142001509
|
|
NM_002076.4(GNS):c.*574G>A
|
rs886049770
|
|
NM_002076.4(GNS):c.*699G>C
|
rs1868848563
|
|
NM_002076.4(GNS):c.*734A>G
|
rs886049768
|
|
NM_002076.4(GNS):c.*846C>T
|
rs886049765
|
|
NM_002076.4(GNS):c.-120A>G
|
rs778270030
|
|
NM_002076.4(GNS):c.-39TCCCG[4]
|
rs559286032
|
|
NM_002076.4(GNS):c.16C>G (p.Leu6Val)
|
rs746189087
|
|
NM_002076.4(GNS):c.229A>G (p.Met77Val)
|
rs763723151
|
|
NM_002076.4(GNS):c.939T>G (p.Thr313=)
|
rs1869657867
|
|
NM_002103.5(GYS1):c.*1113_*1116del
|
rs148396922
|
|
NM_002103.5(GYS1):c.*143C>G
|
rs995248958
|
|
NM_002103.5(GYS1):c.*26G>A
|
rs886054567
|
|
NM_002103.5(GYS1):c.*465G>A
|
rs2038501511
|
|
NM_002103.5(GYS1):c.*59A>T
|
rs973667510
|
|
NM_002103.5(GYS1):c.-157C>T
|
rs748554746
|
|
NM_002103.5(GYS1):c.-172T>C
|
rs886054574
|
|
NM_002103.5(GYS1):c.-195T>A
|
rs2038974225
|
|
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp)
|
rs886054571
|
|
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys)
|
rs868354195
|
|
NM_002103.5(GYS1):c.1170-13C>T
|
rs886054570
|
|
NM_002103.5(GYS1):c.1278T>G (p.Thr426=)
|
rs2038685440
|
|
NM_002103.5(GYS1):c.1377C>T (p.Thr459=)
|
rs2038616834
|
|
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg)
|
rs556352989
|
|
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)
|
rs561646250
|
|
NM_002103.5(GYS1):c.235C>T (p.Leu79=)
|
rs886054573
|
|
NM_002103.5(GYS1):c.300G>A (p.Lys100=)
|
rs886054572
|
|
NM_002103.5(GYS1):c.417C>T (p.Ile139=)
|
rs758550328
|
|
NM_002294.3(LAMP2):c.*2148AT[8]
|
rs753399289
|
|
NM_002294.3(LAMP2):c.*2736T>A
|
rs1057515738
|
|
NM_002294.3(LAMP2):c.*2955A>G
|
rs1275264834
|
|
NM_002294.3(LAMP2):c.*3347GTTA[1]
|
rs764018077
|
|
NM_002294.3(LAMP2):c.*3413T>C
|
rs1180263874
|
|
NM_002294.3(LAMP2):c.*3563T>G
|
rs2058504321
|
|
NM_002294.3(LAMP2):c.*3677C>A
|
rs1057515737
|
|
NM_002294.3(LAMP2):c.*653A>G
|
rs1057515744
|
|
NM_002294.3(LAMP2):c.*692G>A
|
rs1057515743
|
|
NM_002294.3(LAMP2):c.-103G>C
|
rs1057515747
|
|
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val)
|
rs1057515745
|
|
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys)
|
rs2058604992
|
|
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu)
|
rs1057515746
|
|
NM_002299.4(LCT):c.*193C>T
|
rs1189424123
|
|
NM_002299.4(LCT):c.*239C>T
|
rs16832012
|
|
NM_002299.4(LCT):c.*251G>A
|
rs886054860
|
|
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys)
|
rs886054868
|
|
NM_002299.4(LCT):c.122A>C (p.His41Pro)
|
rs757541640
|
|
NM_002299.4(LCT):c.2349C>T (p.Leu783=)
|
rs2077740890
|
|
NM_002299.4(LCT):c.2718C>T (p.Asp906=)
|
rs1454730571
|
|
NM_002299.4(LCT):c.2819G>A (p.Gly940Glu)
|
rs2077714482
|
|
NM_002299.4(LCT):c.2969G>T (p.Ser990Ile)
|
rs201881537
|
|
NM_002299.4(LCT):c.2983C>T (p.His995Tyr)
|
rs1261476069
|
|
NM_002299.4(LCT):c.3390G>A (p.Glu1130=)
|
rs886054865
|
|
NM_002299.4(LCT):c.3532C>T (p.Leu1178=)
|
rs886054864
|
|
NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr)
|
rs886054863
|
|
NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala)
|
rs138785223
|
|
NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys)
|
rs2077699049
|
|
NM_002299.4(LCT):c.3804C>A (p.Pro1268=)
|
rs748206266
|
|
NM_002299.4(LCT):c.4122C>T (p.Tyr1374=)
|
rs557321611
|
|
NM_002299.4(LCT):c.4173+6_4173+8del
|
rs375300532
|
|
NM_002299.4(LCT):c.4239A>G (p.Pro1413=)
|
rs752925060
|
|
NM_002299.4(LCT):c.4404G>A (p.Ala1468=)
|
rs151321629
|
|
NM_002299.4(LCT):c.4434T>C (p.Asp1478=)
|
rs778761405
|
|
NM_002299.4(LCT):c.4447G>T (p.Ala1483Ser)
|
rs139591272
|
|
NM_002299.4(LCT):c.4664-10A>G
|
rs1575334525
|
|
NM_002299.4(LCT):c.4695C>T (p.Tyr1565=)
|
rs886054862
|
|
NM_002299.4(LCT):c.54G>C (p.Trp18Cys)
|
rs886054870
|
|
NM_002299.4(LCT):c.5563+7T>C
|
rs2077518427
|
|
NM_002299.4(LCT):c.621C>T (p.His207=)
|
rs369174474
|
|
NM_002300.7(LDHB):c.-109C>T
|
rs886049167
|
|
NM_002300.8(LDHB):c.*73T>C
|
rs886049163
|
|
NM_002300.8(LDHB):c.-34A>G
|
rs1938903896
|
|
NM_002300.8(LDHB):c.-71C>G
|
rs977721300
|
|
NM_002300.8(LDHB):c.178A>G (p.Lys60Glu)
|
rs1938543300
|
|
NM_002300.8(LDHB):c.210C>A (p.Ser70Arg)
|
rs1938542112
|
|
NM_002300.8(LDHB):c.528T>A (p.Ala176=)
|
rs886049164
|
|
NM_002300.8(LDHB):c.843G>A (p.Met281Ile)
|
rs150060988
|
|
NM_002300.8(LDHB):c.946C>T (p.Gln316Ter)
|
rs1565623986
|
|
NM_002500.4(NEUROD1):c.*1486A>G
|
rs1688569851
|
|
NM_002500.5(NEUROD1):c.*1125T>G
|
rs1688578868
|
|
NM_002500.5(NEUROD1):c.*463del
|
rs886055325
|
|
NM_002500.5(NEUROD1):c.*608T>C
|
rs1688595150
|
|
NM_002500.5(NEUROD1):c.*617C>T
|
rs886055323
|
|
NM_002500.5(NEUROD1):c.*640_*641dup
|
rs886055322
|
|
NM_002500.5(NEUROD1):c.*642_*643del
|
rs886055321
|
|
NM_002500.5(NEUROD1):c.*674_*677dup
|
rs374172497
|
|
NM_002500.5(NEUROD1):c.*676_*677dup
|
rs374172497
|
|
NM_002500.5(NEUROD1):c.*677dup
|
rs374172497
|
|
NM_002500.5(NEUROD1):c.*75G>T
|
rs1688606060
|
|
NM_002500.5(NEUROD1):c.*773A>C
|
rs886055319
|
|
NM_002500.5(NEUROD1):c.*795T>C
|
rs946367001
|
|
NM_002500.5(NEUROD1):c.*819C>G
|
rs1688587199
|
|
NM_002500.5(NEUROD1):c.*859C>A
|
rs752652027
|
|
NM_002500.5(NEUROD1):c.129C>G (p.Leu43=)
|
rs116321775
|
|
NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg)
|
rs376752352
|
|
NM_002500.5(NEUROD1):c.793A>C (p.Thr265Pro)
|
rs761826783
|
|
NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys)
|
rs886055327
|
|
NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala)
|
rs1559135056
|
|
NM_002591.4(PCK1):c.*202G>A
|
rs886056795
|
|
NM_002591.4(PCK1):c.*349AT[6]
|
rs201179319
|
|
NM_002591.4(PCK1):c.*357_*360del
|
rs147972610
|
|
NM_002591.4(PCK1):c.*357_*362del
|
rs760440639
|
|
NM_002591.4(PCK1):c.*358TG[14]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[15]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[16]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[17]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[19]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[20]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[21]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[24]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*608A>C
|
rs2070206106
|
|
NM_002591.4(PCK1):c.-40-12T>C
|
rs2070139661
|
|
NM_002591.4(PCK1):c.-54C>T
|
rs886056794
|
|
NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp)
|
rs368426390
|
|
NM_002591.4(PCK1):c.1658C>T (p.Thr553Met)
|
rs762446688
|
|
NM_002591.4(PCK1):c.1688C>T (p.Ala563Val)
|
rs1256902604
|
|
NM_002591.4(PCK1):c.203G>T (p.Arg68Leu)
|
rs147273759
|
|
NM_002591.4(PCK1):c.474C>T (p.Ile158=)
|
rs764002893
|
|
NM_002591.4(PCK1):c.716C>T (p.Ser239Leu)
|
rs139902878
|
|
NM_002591.4(PCK1):c.733T>G (p.Cys245Gly)
|
rs763473369
|
|
NM_002591.4(PCK1):c.824del (p.Gly275fs)
|
rs748437548
|
|
NM_002591.4(PCK1):c.831G>A (p.Lys277=)
|
rs371044564
|
|
NM_002591.4(PCK1):c.904G>A (p.Gly302Arg)
|
rs200817092
|
|
NM_002637.4(PHKA1):c.*2056T>A
|
rs2052298372
|
|
NM_002637.4(PHKA1):c.*503C>T
|
rs1433119416
|
|
NM_002637.4(PHKA1):c.*772C>T
|
rs2052317488
|
|
NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro)
|
rs2053084669
|
|
NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr)
|
rs2052331052
|
|
NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe)
|
rs2052328981
|
|
NM_002863.5(PYGL):c.*129T>C
|
rs886050536
|
|
NM_002863.5(PYGL):c.1004C>A (p.Ala335Asp)
|
rs886050538
|
|
NM_002863.5(PYGL):c.1063G>A (p.Val355Met)
|
rs771331012
|
|
NM_002863.5(PYGL):c.1768+10C>T
|
rs780893472
|
|
NM_002863.5(PYGL):c.310G>A (p.Gly104Ser)
|
rs762102544
|
|
NM_002863.5(PYGL):c.322G>A (p.Ala108Thr)
|
rs745625131
|
|
NM_002863.5(PYGL):c.360A>T (p.Ile120=)
|
rs1159794818
|
|
NM_002863.5(PYGL):c.773-13A>G
|
rs775151283
|
|
NM_002863.5(PYGL):c.780del (p.Gly261fs)
|
rs1489848369
|
|
NM_002863.5(PYGL):c.823A>G (p.Asn275Asp)
|
rs2050490818
|
|
NM_003041.4(SLC5A2):c.*160C>T
|
rs2082559242
|
|
NM_003041.4(SLC5A2):c.1129+6G>A
|
rs2082520576
|
|
NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro)
|
rs1198340932
|
|
NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=)
|
rs537643888
|
|
NM_003041.4(SLC5A2):c.1307T>C (p.Val436Ala)
|
rs886051961
|
|
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu)
|
rs2082529261
|
|
NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met)
|
rs1426433916
|
|
NM_003041.4(SLC5A2):c.1449+14G>A
|
rs777309894
|
|
NM_003041.4(SLC5A2):c.1450-4G>A
|
rs886051962
|
|
NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile)
|
rs2082481220
|
|
NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=)
|
rs368649902
|
|
NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr)
|
rs1188721313
|
|
NM_003041.4(SLC5A2):c.1889AGG[2] (p.Glu632del)
|
rs771257793
|
|
NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys)
|
rs760556743
|
|
NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe)
|
rs141376808
|
|
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=)
|
rs2082556858
|
|
NM_003051.3(SLC16A1):c.-214C>G
|
rs183726141
|
|
NM_003051.3(SLC16A1):c.-226G>A
|
rs886045089
|
|
NM_003051.3(SLC16A1):c.-249C>T
|
rs60953496
|
|
NM_003051.3(SLC16A1):c.-313T>C
|
rs886045090
|
|
NM_003051.3(SLC16A1):c.-314A>G
|
rs886045091
|
|
NM_003051.3(SLC16A1):c.-316G>A
|
rs1313637478
|
|
NM_003051.4(SLC16A1):c.*1044T>G
|
rs1190989254
|
|
NM_003051.4(SLC16A1):c.*1051G>A
|
rs886045064
|
|
NM_003051.4(SLC16A1):c.*1064G>T
|
rs886045063
|
|
NM_003051.4(SLC16A1):c.*1071T>C
|
rs1648368024
|
|
NM_003051.4(SLC16A1):c.*1072G>T
|
rs886045062
|
|
NM_003051.4(SLC16A1):c.*361G>T
|
rs1407575522
|
|
NM_003051.4(SLC16A1):c.*739T>C
|
rs570060559
|
|
NM_003051.4(SLC16A1):c.*739T>G
|
rs570060559
|
|
NM_003051.4(SLC16A1):c.1228+6G>A
|
rs190615745
|
|
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala)
|
rs886045067
|
|
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=)
|
rs145916504
|
|
NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser)
|
rs200143982
|
|
NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu)
|
rs766830652
|
|
NM_003051.4(SLC16A1):c.72T>A (p.Ile24=)
|
rs760137043
|
|
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu)
|
rs774823539
|
|
NM_003384.3(VRK1):c.*104A>G
|
rs1889251007
|
|
NM_003384.3(VRK1):c.*171C>A
|
rs1889253340
|
|
NM_003384.3(VRK1):c.*211A>G
|
rs886050949
|
|
NM_003384.3(VRK1):c.*338A>G
|
rs1889259011
|
|
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)
|
rs749258908
|
|
NM_003384.3(VRK1):c.374+11G>A
|
rs937625087
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
NM_003477.2(PDHX):c.-271G>T
|
rs780153979
|
|
NM_003477.3(PDHX):c.*662A>T
|
rs1855847638
|
|
NM_003477.3(PDHX):c.*783G>T
|
rs751318367
|
|
NM_003477.3(PDHX):c.*821A>T
|
rs1020596537
|
|
NM_003477.3(PDHX):c.*874A>G
|
rs1855851456
|
|
NM_003477.3(PDHX):c.-27C>T
|
rs529801753
|
|
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)
|
rs200419151
|
|
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter)
|
rs769476738
|
|
NM_003477.3(PDHX):c.585C>G (p.His195Gln)
|
rs886048247
|
|
NM_003477.3(PDHX):c.702T>C (p.Thr234=)
|
rs772231144
|
|
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly)
|
rs886048248
|
|
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu)
|
rs1855230194
|
|
NM_003597.5(KLF11):c.*1296T>C
|
rs886054730
|
|
NM_003597.5(KLF11):c.*1495G>A
|
rs886054733
|
|
NM_003597.5(KLF11):c.*1612C>G
|
rs886054734
|
|
NM_003597.5(KLF11):c.*1894A>G
|
rs557209557
|
|
NM_003597.5(KLF11):c.*319C>T
|
rs777727299
|
|
NM_003597.5(KLF11):c.*457A>T
|
rs920552860
|
|
NM_003597.5(KLF11):c.*96dup
|
rs886054725
|
|
NM_003597.5(KLF11):c.-95GCC[7]
|
rs372827624
|
|
NM_003597.5(KLF11):c.1057C>A (p.Pro353Thr)
|
rs886054724
|
|
NM_003597.5(KLF11):c.1396A>G (p.Ser466Gly)
|
rs757875185
|
|
NM_003597.5(KLF11):c.351A>G (p.Pro117=)
|
rs781433096
|
|
NM_003597.5(KLF11):c.644A>G (p.Gln215Arg)
|
rs1347317649
|
|
NM_003597.5(KLF11):c.926T>C (p.Leu309Ser)
|
rs1661291203
|
|
NM_003619.4(PRSS12):c.*1431C>T
|
rs548846144
|
|
NM_003619.4(PRSS12):c.*1577A>G
|
rs1742810283
|
|
NM_003619.4(PRSS12):c.*1699T>C
|
rs886059024
|
|
NM_003619.4(PRSS12):c.*260C>T
|
rs886059031
|
|
NM_003619.4(PRSS12):c.*263A>G
|
rs957795451
|
|
NM_003619.4(PRSS12):c.*278T>A
|
rs886059030
|
|
NM_003619.4(PRSS12):c.*526T>A
|
rs886059029
|
|
NM_003619.4(PRSS12):c.*531C>A
|
rs886059028
|
|
NM_003619.4(PRSS12):c.*830C>T
|
rs886059026
|
|
NM_003619.4(PRSS12):c.*839T>C
|
rs1343646133
|
|
NM_003619.4(PRSS12):c.*842C>G
|
rs886059025
|
|
NM_003619.4(PRSS12):c.*849C>T
|
rs1742836402
|
|
NM_003619.4(PRSS12):c.*906A>G
|
rs1742834260
|
|
NM_003619.4(PRSS12):c.*950A>C
|
rs1314051273
|
|
NM_003619.4(PRSS12):c.1381A>G (p.Arg461Gly)
|
rs1743806508
|
|
NM_003619.4(PRSS12):c.1395T>A (p.Cys465Ter)
|
rs1560774339
|
|
NM_003619.4(PRSS12):c.1512T>C (p.Asp504=)
|
rs886059035
|
|
NM_003619.4(PRSS12):c.1722G>A (p.Arg574=)
|
rs1743319957
|
|
NM_003619.4(PRSS12):c.1788A>T (p.Gly596=)
|
rs886059034
|
|
NM_003619.4(PRSS12):c.1917-4T>C
|
rs1743223579
|
|
NM_003619.4(PRSS12):c.195C>T (p.Phe65=)
|
rs1671147684
|
|
NM_003619.4(PRSS12):c.1974G>T (p.Arg658Ser)
|
rs371384574
|
|
NM_003619.4(PRSS12):c.2050A>G (p.Ser684Gly)
|
rs369577707
|
|
NM_003619.4(PRSS12):c.2173T>C (p.Tyr725His)
|
rs558433873
|
|
NM_003619.4(PRSS12):c.274G>C (p.Gly92Arg)
|
rs1191488477
|
|
NM_003619.4(PRSS12):c.365C>T (p.Ser122Leu)
|
rs755655664
|
|
NM_003619.4(PRSS12):c.524G>A (p.Gly175Asp)
|
rs72677056
|
|
NM_003619.4(PRSS12):c.916G>A (p.Asp306Asn)
|
rs1723924890
|
|
NM_003619.4(PRSS12):c.918T>G (p.Asp306Glu)
|
rs1723924725
|
|
NM_005271.5(GLUD1):c.*1139T>C
|
rs1845608491
|
|
NM_005271.5(GLUD1):c.*1211T>C
|
rs1845605578
|
|
NM_005271.5(GLUD1):c.*1252T>C
|
rs886047371
|
|
NM_005271.5(GLUD1):c.*1515A>G
|
rs1845594094
|
|
NM_005271.5(GLUD1):c.*1545C>T
|
rs886047367
|
|
NM_005271.5(GLUD1):c.*205A>G
|
rs886047373
|
|
NM_005271.5(GLUD1):c.*64T>C
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*64T>G
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*868A>C
|
rs1430742705
|
|
NM_005271.5(GLUD1):c.-44C>T
|
rs886047379
|
|
NM_005271.5(GLUD1):c.1279-3T>C
|
rs1845868081
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
NM_005271.5(GLUD1):c.546T>C (p.Ala182=)
|
rs886047378
|
|
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg)
|
rs886047377
|
|
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter)
|
rs886047375
|
|
NM_005327.4(HADH):c.-195A>C
|
rs886058979
|
|
NM_005327.4(HADH):c.-195A>G
|
rs886058979
|
|
NM_005327.4(HADH):c.-56C>A
|
rs770197760
|
|
NM_005327.7(HADH):c.*661dup
|
rs886058981
|
|
NM_005327.7(HADH):c.132+6C>G
|
rs772843585
|
|
NM_005327.7(HADH):c.21G>A (p.Gln7=)
|
rs886058980
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)
|
rs780574282
|
|
NM_005327.7(HADH):c.825T>G (p.Asp275Glu)
|
rs1736344235
|
|
NM_005566.4(LDHA):c.*18T>C
|
rs1866725270
|
|
NM_005566.4(LDHA):c.*48C>T
|
rs1866727073
|
|
NM_005566.4(LDHA):c.*501C>A
|
rs886048090
|
|
NM_005566.4(LDHA):c.*52G>T
|
rs1866727649
|
|
NM_005566.4(LDHA):c.*586A>G
|
rs886048091
|
|
NM_005566.4(LDHA):c.*694C>T
|
rs1866763337
|
|
NM_005566.4(LDHA):c.126+3_126+6del
|
rs776715682
|
|
NM_005566.4(LDHA):c.538G>T (p.Val180Phe)
|
rs200586792
|
|
NM_005566.4(LDHA):c.675del (p.Glu225fs)
|
rs751851558
|
|
NM_005566.4(LDHA):c.984G>A (p.Lys328=)
|
rs1866722699
|
|
NM_005609.2(PYGM):c.-556C>G
|
rs886048467
|
|
NM_005609.2(PYGM):c.-668C>T
|
rs886048468
|
|
NM_005609.4(PYGM):c.-23G>A
|
rs886048465
|
|
NM_005609.4(PYGM):c.1769-7T>C
|
rs2058357396
|
|
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
|
rs753355735
|
|
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys)
|
rs886048464
|
|
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp)
|
rs369382075
|
|
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn)
|
rs2058315823
|
|
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn)
|
rs886048460
|
|
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val)
|
rs2058310112
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.537G>A (p.Glu179=)
|
rs886048462
|
|
NM_005908.4(MANBA):c.*314A>G
|
rs886058966
|
|
NM_005908.4(MANBA):c.*328T>A
|
rs1729383430
|
|
NM_005908.4(MANBA):c.*503G>C
|
rs1022995879
|
|
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu)
|
rs200033515
|
|
NM_005908.4(MANBA):c.1953G>A (p.Thr651=)
|
rs886058968
|
|
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys)
|
rs763613927
|
|
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
|
rs774068992
|
|
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
|
rs767182713
|
|
NM_005908.4(MANBA):c.2415+1G>C
|
rs1284324018
|
|
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr)
|
rs182869272
|
|
NM_005908.4(MANBA):c.492C>T (p.Pro164=)
|
rs1722640489
|
|
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys)
|
rs1724216325
|
|
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp)
|
rs1732436667
|
|
NM_005908.4(MANBA):c.77G>A (p.Arg26His)
|
rs767103860
|
|
NM_005908.4(MANBA):c.961-8C>A
|
rs886058969
|
|
NM_006488.3(KHK):c.*11C>T
|
rs759689060
|
|
NM_006488.3(KHK):c.*159G>A
|
rs886055892
|
|
NM_006488.3(KHK):c.*176G>A
|
rs1558454561
|
|
NM_006488.3(KHK):c.*198A>C
|
rs886055893
|
|
NM_006488.3(KHK):c.*739G>C
|
rs751242318
|
|
NM_006488.3(KHK):c.-140G>A
|
rs886055884
|
|
NM_006488.3(KHK):c.15G>A (p.Gln5=)
|
rs1669712582
|
|
NM_006488.3(KHK):c.210-245C>G
|
rs202153228
|
|
NM_006488.3(KHK):c.500G>A (p.Arg167Gln)
|
rs201707861
|
|
NM_006488.3(KHK):c.557G>A (p.Gly186Glu)
|
rs886055888
|
|
NM_006488.3(KHK):c.643G>C (p.Val215Leu)
|
rs886055889
|
|
NM_006488.3(KHK):c.653+5G>A
|
rs1670622215
|
|
NM_006488.3(KHK):c.680AGG[1] (p.Glu228del)
|
rs745546639
|
|
NM_006488.3(KHK):c.826G>A (p.Glu276Lys)
|
rs761486852
|
|
NM_006516.2(SLC2A1):c.-388G>T
|
rs544483207
|
|
NM_006516.4(SLC2A1):c.*1079T>G
|
rs1426402573
|
|
NM_006516.4(SLC2A1):c.*1081T>A
|
rs886046333
|
|
NM_006516.4(SLC2A1):c.*1147G>C
|
rs886046332
|
|
NM_006516.4(SLC2A1):c.*1337A>G
|
rs113441673
|
|
NM_006516.4(SLC2A1):c.*1564C>T
|
rs1057515570
|
|
NM_006516.4(SLC2A1):c.*1611T>C
|
rs1057515457
|
|
NM_006516.4(SLC2A1):c.*216C>T
|
rs1643431578
|
|
NM_006516.4(SLC2A1):c.*92G>A
|
rs1266657991
|
|
NM_006516.4(SLC2A1):c.-202G>C
|
rs1016572946
|
|
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=)
|
rs886046341
|
|
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe)
|
rs1643484697
|
|
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=)
|
rs1392755923
|
|
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=)
|
rs753500924
|
|
NM_006721.4(ADK):c.*157G>A
|
rs886047237
|
|
NM_006721.4(ADK):c.441C>T (p.Asp147=)
|
rs886047236
|
|
NM_006721.4(ADK):c.494A>C (p.Lys165Thr)
|
rs1219524919
|
|
NM_006721.4(ADK):c.66-23967G>T
|
rs1842356778
|
|
NM_006721.4(ADK):c.66-24083G>C
|
rs886047233
|
|
NM_006721.4(ADK):c.66-24133G>A
|
rs1036870011
|
|
NM_006721.4(ADK):c.66-24151A>T
|
rs886047232
|
|
NM_006755.1(TALDO1):c.-36_-34CGC[7]
|
rs71464113
|
|
NM_006755.2(TALDO1):c.356T>C (p.Val119Ala)
|
rs1862905275
|
|
NM_006755.2(TALDO1):c.488A>G (p.His163Arg)
|
rs886048664
|
|
NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln)
|
rs1863002079
|
|
NM_006755.2(TALDO1):c.78C>G (p.Ala26=)
|
rs886048659
|
|
NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn)
|
rs866261597
|
|
NM_006755.2(TALDO1):c.956C>T (p.Ala319Val)
|
rs1863012392
|
|
NM_006755.2(TALDO1):c.982-8_982-5del
|
rs773135701
|
|
NM_012203.2(GRHPR):c.*132T>C
|
rs1823695311
|
|
NM_012203.2(GRHPR):c.156C>G (p.Ala52=)
|
rs754532633
|
|
NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro)
|
rs1588751701
|
|
NM_012203.2(GRHPR):c.308C>T (p.Thr103Ile)
|
rs761490627
|
|
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro)
|
rs886063930
|
|
NM_012203.2(GRHPR):c.666C>G (p.Thr222=)
|
rs146227450
|
|
NM_012434.5(SLC17A5):c.*1056A>G
|
rs938117850
|
|
NM_012434.5(SLC17A5):c.*1332T>A
|
rs886061728
|
|
NM_012434.5(SLC17A5):c.*1332del
|
rs559455789
|
|
NM_012434.5(SLC17A5):c.*1587del
|
rs886061725
|
|
NM_012434.5(SLC17A5):c.*501G>A
|
rs933119464
|
|
NM_012434.5(SLC17A5):c.*595C>G
|
rs540399289
|
|
NM_012434.5(SLC17A5):c.*666C>T
|
rs886061732
|
|
NM_012434.5(SLC17A5):c.-56C>G
|
rs886061736
|
|
NM_012434.5(SLC17A5):c.-73C>A
|
rs1769998487
|
|
NM_012434.5(SLC17A5):c.1045G>A (p.Ala349Thr)
|
rs1767808770
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|
NM_012434.5(SLC17A5):c.1358T>G (p.Val453Gly)
|
rs886061735
|
|
NM_013995.2(LAMP2):c.-168dup
|
rs760941179
|
|
NM_015957.4(APIP):c.-14C>T
|
rs886048245
|
|
NM_015957.4(APIP):c.57+57C>G
|
rs988171497
|
|
NM_016042.4(EXOSC3):c.*242A>C
|
rs1828556271
|
|
NM_016042.4(EXOSC3):c.*354C>A
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*354C>G
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*419A>G
|
rs1828546518
|
|
NM_016042.4(EXOSC3):c.*582A>C
|
rs886063932
|
|
NM_016042.4(EXOSC3):c.*812T>G
|
rs886063931
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)
|
rs145622193
|
|
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr)
|
rs758230758
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)
|
rs140199968
|
|
NM_016203.3(PRKAG2):c.-517G>T
|
rs886062107
|
|
NM_016203.3(PRKAG2):c.-575C>T
|
rs886062108
|
|
NM_016203.3(PRKAG2):c.-580C>T
|
rs886062109
|
|
NM_016203.4(PRKAG2):c.*1021_*1022delinsGT
|
rs886062094
|
|
NM_016203.4(PRKAG2):c.*1029dup
|
rs1554444891
|
|
NM_016203.4(PRKAG2):c.*1040del
|
rs56898021
|
|
NM_016203.4(PRKAG2):c.*1040dup
|
rs56898021
|
|
NM_016203.4(PRKAG2):c.*1041dup
|
rs886062093
|
|
NM_016203.4(PRKAG2):c.*350C>A
|
rs886062099
|
|
NM_016203.4(PRKAG2):c.*896del
|
rs532079387
|
|
NM_016203.4(PRKAG2):c.-274C>A
|
rs886062104
|
|
NM_016203.4(PRKAG2):c.-351G>A
|
rs886062105
|
|
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)
|
rs397517277
|
|
NM_016203.4(PRKAG2):c.787C>A (p.Arg263=)
|
rs886062100
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016219.5(MAN1B1):c.*258C>T
|
rs755189897
|
|
NM_016219.5(MAN1B1):c.*470C>T
|
rs558804715
|
|
NM_016219.5(MAN1B1):c.*498G>C
|
rs886063734
|
|
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu)
|
rs774769293
|
|
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=)
|
rs1168317937
|
|
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)
|
rs774835139
|
|
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=)
|
rs886063730
|
|
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=)
|
rs886063731
|
|
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=)
|
rs114484315
|
|
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=)
|
rs34355967
|
|
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val)
|
rs1830422438
|
|
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=)
|
rs886063727
|
|
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val)
|
rs886063728
|
|
NM_016219.5(MAN1B1):c.731-8C>T
|
rs375902720
|
|
NM_016219.5(MAN1B1):c.79dup (p.Ala27fs)
|
rs1190243291
|
|
NM_017755.6(NSUN2):c.*532A>G
|
rs1317432691
|
|
NM_017755.6(NSUN2):c.*619G>A
|
rs1018606113
|
|
NM_017755.6(NSUN2):c.*97C>A
|
rs759455426
|
|
NM_017755.6(NSUN2):c.138G>A (p.Lys46=)
|
rs886060729
|
|
NM_017755.6(NSUN2):c.1818+4A>G
|
rs1736685253
|
|
NM_017755.6(NSUN2):c.2025C>G (p.Ile675Met)
|
rs139224594
|
|
NM_017755.6(NSUN2):c.2254C>T (p.Pro752Ser)
|
rs1736479408
|
|
NM_017755.6(NSUN2):c.615C>A (p.Pro205=)
|
rs773951967
|
|
NM_017755.6(NSUN2):c.980A>G (p.Glu327Gly)
|
rs1737229372
|
|
NM_018444.4(PDP1):c.*1661del
|
rs60316663
|
|
NM_018444.4(PDP1):c.*724del
|
rs886063179
|
|
NM_018444.4(PDP1):c.*898CTT[1]
|
rs756226872
|
|
NM_020897.3(HCN3):c.*1354A>G
|
rs1674455124
|
|
NM_021957.4(GYS2):c.*468T>C
|
rs1943911606
|
|
NM_021957.4(GYS2):c.*545G>A
|
rs562024109
|
|
NM_021957.4(GYS2):c.*567del
|
rs886049152
|
|
NM_021957.4(GYS2):c.*684C>T
|
rs746414953
|
|
NM_021957.4(GYS2):c.*735TAAA[1]
|
rs886049151
|
|
NM_021957.4(GYS2):c.1170-4A>G
|
rs886049157
|
|
NM_021957.4(GYS2):c.1171G>T (p.Asp391Tyr)
|
rs763052951
|
|
NM_021957.4(GYS2):c.1418T>G (p.Val473Gly)
|
rs886049156
|
|
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)
|
rs121918422
|
|
NM_021957.4(GYS2):c.1820A>G (p.His607Arg)
|
rs886049155
|
|
NM_021957.4(GYS2):c.2055T>C (p.Phe685=)
|
rs201063818
|
|
NM_021957.4(GYS2):c.215A>G (p.His72Arg)
|
rs574787003
|
|
NM_021957.4(GYS2):c.279C>T (p.Asp93=)
|
rs779704436
|
|
NM_021957.4(GYS2):c.289A>G (p.Lys97Glu)
|
rs886049161
|
|
NM_021957.4(GYS2):c.755C>G (p.Ala252Gly)
|
rs886049160
|
|
NM_021957.4(GYS2):c.942-6T>C
|
rs886049158
|
|
NM_022895.3(C12orf43):c.*1890C>A
|
rs886049035
|
|
NM_022895.3(C12orf43):c.*2626G>A
|
rs1877483762
|
|
NM_022895.3(C12orf43):c.*2765C>T
|
rs1877471070
|
|
NM_022895.3(C12orf43):c.*2768G>T
|
rs972789249
|
|
NM_022895.3(C12orf43):c.*2922C>G
|
rs758414199
|
|
NM_033159.4(HYAL1):c.*106G>C
|
rs903056291
|
|
NM_033159.4(HYAL1):c.*333C>G
|
rs1702060462
|
|
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
|
rs782279681
|
|
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser)
|
rs1702097712
|
|
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
|
rs587680396
|
|
NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu)
|
rs1971740543
|
|
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser)
|
rs143749502
|
|
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)
|
rs560867570
|
|
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys)
|
rs199677913
|
|
NM_053013.4(ENO3):c.788C>T (p.Ser263Leu)
|
rs748865733
|
|
NM_053013.4(ENO3):c.834del (p.Glu278fs)
|
rs779920188
|
|
NM_080749.4(NEURL2):c.-92del
|
rs554760054
|
|
NM_138413.4(HOGA1):c.*1059A>C
|
rs886047524
|
|
NM_138413.4(HOGA1):c.*186C>A
|
rs576078709
|
|
NM_138413.4(HOGA1):c.*204T>A
|
rs886047519
|
|
NM_138413.4(HOGA1):c.*288A>C
|
rs886047520
|
|
NM_138413.4(HOGA1):c.*291C>T
|
rs1451536369
|
|
NM_138413.4(HOGA1):c.*350dup
|
rs1554875325
|
|
NM_138413.4(HOGA1):c.*353_*354dup
|
rs5787248
|
|
NM_138413.4(HOGA1):c.*354dup
|
rs5787248
|
|
NM_138413.4(HOGA1):c.*359dup
|
rs561998392
|
|
NM_138413.4(HOGA1):c.*381AG[1]
|
rs886047523
|
|
NM_138413.4(HOGA1):c.*391T>C
|
rs2041201199
|
|
NM_138413.4(HOGA1):c.*427G>A
|
rs181759217
|
|
NM_138413.4(HOGA1):c.*485C>T
|
rs553100036
|
|
NM_138413.4(HOGA1):c.*592C>G
|
rs573565860
|
|
NM_138413.4(HOGA1):c.*592C>T
|
rs573565860
|
|
NM_138413.4(HOGA1):c.*665C>T
|
rs2041204731
|
|
NM_138413.4(HOGA1):c.*733C>T
|
rs764120248
|
|
NM_138413.4(HOGA1):c.*803A>G
|
rs542605022
|
|
NM_138413.4(HOGA1):c.*887C>G
|
rs2041206041
|
|
NM_138413.4(HOGA1):c.*937C>T
|
rs532737566
|
|
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg)
|
rs764396564
|
|
NM_138413.4(HOGA1):c.153G>T (p.Glu51Asp)
|
rs1347221993
|
|
NM_138413.4(HOGA1):c.604-4G>T
|
rs2041104477
|
|
NM_138413.4(HOGA1):c.661G>A (p.Ala221Thr)
|
rs2041104991
|
|
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser)
|
rs886047518
|
|
NM_138413.4(HOGA1):c.776C>T (p.Thr259Met)
|
rs144103035
|
|
NM_138413.4(HOGA1):c.834G>T (p.Ala278=)
|
rs770050262
|
|
NM_144563.3(RPIA):c.*134A>C
|
rs892159755
|
|
NM_144563.3(RPIA):c.*281A>G
|
rs1052569032
|
|
NM_144563.3(RPIA):c.*291del
|
rs113052379
|
|
NM_144563.3(RPIA):c.*635A>G
|
rs150350485
|
|
NM_144563.3(RPIA):c.*807C>G
|
rs886056426
|
|
NM_144563.3(RPIA):c.-17C>A
|
rs776488875
|
|
NM_144563.3(RPIA):c.177C>T (p.Ser59=)
|
rs1676938837
|
|
NM_144563.3(RPIA):c.493G>A (p.Val165Ile)
|
rs886056422
|
|
NM_144563.3(RPIA):c.738+18del
|
rs750253754
|
|
NM_152419.3(HGSNAT):c.*1026G>C
|
rs533282054
|
|
NM_152419.3(HGSNAT):c.*1100_*1103del
|
rs886062959
|
|
NM_152419.3(HGSNAT):c.*1204C>A
|
rs763225051
|
|
NM_152419.3(HGSNAT):c.*1214C>A
|
rs1250097718
|
|
NM_152419.3(HGSNAT):c.*1219G>A
|
rs989915640
|
|
NM_152419.3(HGSNAT):c.*1331T>A
|
rs543569352
|
|
NM_152419.3(HGSNAT):c.*1584A>G
|
rs1804905348
|
|
NM_152419.3(HGSNAT):c.*1696T>G
|
rs1278712308
|
|
NM_152419.3(HGSNAT):c.*1750C>T
|
rs886062961
|
|
NM_152419.3(HGSNAT):c.*1925A>G
|
rs1804916088
|
|
NM_152419.3(HGSNAT):c.*196T>G
|
rs886062956
|
|
NM_152419.3(HGSNAT):c.*2434G>A
|
rs1804930624
|
|
NM_152419.3(HGSNAT):c.*2620A>C
|
rs1804936973
|
|
NM_152419.3(HGSNAT):c.*2806G>C
|
rs541393074
|
|
NM_152419.3(HGSNAT):c.*2950A>G
|
rs1804948886
|
|
NM_152419.3(HGSNAT):c.*3044dup
|
rs886062965
|
|
NM_152419.3(HGSNAT):c.*574C>G
|
rs1804870887
|
|
NM_152419.3(HGSNAT):c.*581T>C
|
rs772452020
|
|
NM_152419.3(HGSNAT):c.*612A>C
|
rs1325231089
|
|
NM_152419.3(HGSNAT):c.*857C>T
|
rs143991538
|
|
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)
|
rs757385876
|
|
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu)
|
rs1804527192
|
|
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val)
|
rs1266245327
|
|
NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly)
|
rs764229375
|
|
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
|
rs727503962
|
|
NM_152419.3(HGSNAT):c.851+10C>T
|
rs778394235
|
|
NM_152419.3(HGSNAT):c.906A>T (p.Gln302His)
|
rs886062954
|
|
NM_153281.2(HYAL1):c.-237A>T
|
rs1702408973
|
|
NM_153281.2(HYAL1):c.-310+12dup
|
rs886058696
|
|
NM_153281.2(HYAL1):c.-384G>A
|
rs886058698
|
|
NM_175914.5(HNF4A):c.*1089del
|
rs749515492
|
|
NM_175914.5(HNF4A):c.*1106G>A
|
rs753675648
|
|
NM_175914.5(HNF4A):c.*145T>A
|
rs200905283
|
|
NM_175914.5(HNF4A):c.*1809C>G
|
rs2063876979
|
|
NM_175914.5(HNF4A):c.*1826G>A
|
rs1763003018
|
|
NM_175914.5(HNF4A):c.*2167T>G
|
rs886056687
|
|
NM_175914.5(HNF4A):c.*217C>T
|
rs1019701119
|
|
NM_175914.5(HNF4A):c.*226C>A
|
rs886056680
|
|
NM_175914.5(HNF4A):c.*2600T>C
|
rs886056689
|
|
NM_175914.5(HNF4A):c.*2674_*2675del
|
rs886056691
|
|
NM_175914.5(HNF4A):c.*2676dup
|
rs886056692
|
|
NM_175914.5(HNF4A):c.*2677_*2683del
|
rs886056693
|
|
NM_175914.5(HNF4A):c.*2677dup
|
rs886056694
|
|
NM_175914.5(HNF4A):c.*2678dup
|
rs761222838
|
|
NM_175914.5(HNF4A):c.*2679del
|
rs886056695
|
|
NM_175914.5(HNF4A):c.*2698_*2704del
|
rs886056697
|
|
NM_175914.5(HNF4A):c.*2703del
|
rs11450239
|
|
NM_175914.5(HNF4A):c.*2703dup
|
rs11450239
|
|
NM_175914.5(HNF4A):c.*2707del
|
rs886056698
|
|
NM_175914.5(HNF4A):c.*2707dup
|
rs886056699
|
|
NM_175914.5(HNF4A):c.*2761G>C
|
rs1212257046
|
|
NM_175914.5(HNF4A):c.*2777del
|
rs886056700
|
|
NM_175914.5(HNF4A):c.*2782A>C
|
rs1192263020
|
|
NM_175914.5(HNF4A):c.*2796AC[1]
|
rs548863430
|
|
NM_175914.5(HNF4A):c.*3024C>T
|
rs886056702
|
|
NM_175914.5(HNF4A):c.*3052G>A
|
rs546761850
|
|
NM_175914.5(HNF4A):c.*3104A>C
|
rs886056703
|
|
NM_175914.5(HNF4A):c.*35C>A
|
rs1019496764
|
|
NM_175914.5(HNF4A):c.*965G>T
|
rs886056683
|
|
NM_175914.5(HNF4A):c.*987G>T
|
rs886056684
|
|
NM_175914.5(HNF4A):c.*993G>A
|
rs2063867733
|
|
NM_175914.5(HNF4A):c.1290C>T (p.Ala430=)
|
rs530389600
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
NM_175914.5(HNF4A):c.50-4630T>C
|
rs2063407237
|
|
NM_175914.5(HNF4A):c.50-4791_50-4788del
|
rs886056679
|
|
NM_178161.3(PTF1A):c.*126_*129del
|
rs533517653
|
|
NM_198586.3(NHLRC1):c.*153A>T
|
rs895212001
|
|
NM_198586.3(NHLRC1):c.*175T>C
|
rs1783727115
|
|
NM_198586.3(NHLRC1):c.*248C>A
|
rs182779486
|
|
NM_198586.3(NHLRC1):c.*248C>G
|
rs182779486
|
|
NM_198586.3(NHLRC1):c.*327G>C
|
rs375143655
|
|
NM_198586.3(NHLRC1):c.*358_*361del
|
rs550375620
|
|
NM_198586.3(NHLRC1):c.*406A>G
|
rs886061251
|
|
NM_198586.3(NHLRC1):c.*662C>G
|
rs150615281
|
|
NM_198586.3(NHLRC1):c.*875T>A
|
rs72839174
|
|
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln)
|
rs764691077
|
|
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
|
rs370573413
|
|
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)
|
rs886061254
|
|
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg)
|
rs1783745635
|
|
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala)
|
rs886061253
|
|