NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
NM_000207.3(INS):c.187+11T>C
|
rs5506
|
0.93263
|
NM_000507.4(FBP1):c.960A>G (p.Gly320=)
|
rs1769257
|
0.88821
|
NM_000642.3(AGL):c.959-18G>A
|
rs634880
|
0.73702
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_000175.5(GPI):c.489A>G (p.Gly163=)
|
rs1801015
|
0.14862
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
NM_000208.4(INSR):c.783C>T (p.Asp261=)
|
rs891087
|
0.11869
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06691
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
NM_000891.3(KCNJ2):c.*2752T>C
|
rs993085233
|
0.04719
|
NM_000891.3(KCNJ2):c.*2758T>C
|
rs1324652195
|
0.04554
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000155.4(GALT):c.876G>A (p.Thr292=)
|
rs1055607
|
0.02790
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_000891.3(KCNJ2):c.-163_-162insTC
|
rs61077847
|
0.02248
|
NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT
|
rs58144126
|
0.02246
|
NM_015028.4(TNIK):c.3012C>T (p.Ser1004=)
|
rs61736291
|
0.02140
|
NM_000528.4(MAN2B1):c.2267+3G>C
|
rs28639634
|
0.02031
|
NM_017755.6(NSUN2):c.1602-17_1602-15del
|
rs139131959
|
0.01987
|
NM_053013.3(ENO3):c.-88G>A
|
rs73343373
|
0.01987
|
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)
|
rs61234887
|
0.01841
|
NM_002591.4(PCK1):c.611-16G>A
|
rs75308972
|
0.01788
|
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly)
|
rs115690016
|
0.01755
|
NM_000208.4(INSR):c.653-7del
|
rs766817873
|
0.01724
|
NM_000188.3(HK1):c.1031+6T>C
|
rs57012387
|
0.01704
|
NM_000158.4(GBE1):c.1716C>T (p.Asp572=)
|
rs2229520
|
0.01610
|
NM_053013.4(ENO3):c.993C>T (p.Ala331=)
|
rs2230257
|
0.01604
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
NM_024824.5(ZC3H14):c.432-3T>C
|
rs77755006
|
0.01392
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
NM_002299.4(LCT):c.454G>A (p.Ala152Thr)
|
rs114525655
|
0.01314
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=)
|
rs33973317
|
0.01145
|
NM_024989.4(PGAP1):c.860+12C>A
|
rs79169433
|
0.01104
|
NM_001041.4(SI):c.692C>G (p.Thr231Ser)
|
rs79468450
|
0.01059
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_000147.5(FUCA1):c.327G>A (p.Gln109=)
|
rs61996281
|
0.00982
|
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=)
|
rs33915456
|
0.00975
|
NM_002076.4(GNS):c.1598G>A (p.Arg533His)
|
rs61743822
|
0.00929
|
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)
|
rs34355967
|
0.00892
|
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu)
|
rs59357922
|
0.00793
|
NM_001715.3(BLK):c.102C>T (p.Asp34=)
|
rs75383960
|
0.00743
|
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=)
|
rs61733281
|
0.00738
|
NM_005327.7(HADH):c.881A>G (p.Asn294Ser)
|
rs36030668
|
0.00738
|
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)
|
rs61740117
|
0.00691
|
NM_003597.5(KLF11):c.429C>T (p.Ala143=)
|
rs113903638
|
0.00679
|
NM_000512.5(GALNS):c.1003-42C>T
|
rs139088253
|
0.00674
|
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)
|
rs200121704
|
0.00665
|
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)
|
rs143732206
|
0.00657
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
NM_000207.3(INS):c.188-16C>T
|
rs5507
|
0.00616
|
NM_002863.5(PYGL):c.1093-6C>A
|
rs147211684
|
0.00613
|
NM_138501.6(TECR):c.16-15G>A
|
rs113855270
|
0.00612
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_001807.6(CEL):c.1833G>C (p.Gly611=)
|
rs1211933243
|
0.00547
|
NM_002863.5(PYGL):c.2112T>C (p.Ala704=)
|
rs35110875
|
0.00531
|
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser)
|
rs78348923
|
0.00530
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
NM_000642.3(AGL):c.*2060T>C
|
rs191429370
|
0.00522
|
NM_003477.3(PDHX):c.160+15C>G
|
rs187304189
|
0.00501
|
NM_012096.3(APPL1):c.256T>C (p.Leu86=)
|
rs147166062
|
0.00501
|
NM_000181.4(GUSB):c.725-16C>T
|
rs62470936
|
0.00494
|
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile)
|
rs76033442
|
0.00489
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)
|
rs142356700
|
0.00474
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
NM_017755.6(NSUN2):c.510G>A (p.Leu170=)
|
rs144888290
|
0.00445
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00425
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
NM_002076.4(GNS):c.792+16A>G
|
rs148924072
|
0.00415
|
NM_000027.4(AGA):c.965C>T (p.Thr322Ile)
|
rs56849061
|
0.00414
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val)
|
rs116216229
|
0.00409
|
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)
|
rs117474773
|
0.00404
|
NM_001040716.2(PC):c.85G>A (p.Val29Ile)
|
rs45471099
|
0.00394
|
NM_001807.6(CEL):c.402C>G (p.Gly134=)
|
rs150358550
|
0.00392
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys)
|
rs35996030
|
0.00375
|
NM_004830.4(MED23):c.4080G>T (p.Val1360=)
|
rs138742804
|
0.00372
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=)
|
rs143796494
|
0.00330
|
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)
|
rs149613968
|
0.00328
|
NM_000162.5(GCK):c.1019+18G>A
|
rs150914617
|
0.00322
|
NM_000308.4(CTSA):c.1287G>A (p.Lys429=)
|
rs41282776
|
0.00321
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu)
|
rs35776173
|
0.00300
|
NM_000292.3(PHKA2):c.2806+13C>A
|
rs186550641
|
0.00296
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
NM_003041.4(SLC5A2):c.1665+13G>A
|
rs185753774
|
0.00282
|
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser)
|
rs145151396
|
0.00273
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile)
|
rs3213608
|
0.00266
|
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)
|
rs79002951
|
0.00265
|
NM_000207.3(INS):c.188-10G>A
|
rs41275198
|
0.00262
|
NM_000642.3(AGL):c.*832G>A
|
rs181486858
|
0.00261
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
NM_001041.4(SI):c.4275A>G (p.Thr1425=)
|
rs150151075
|
0.00243
|
NM_000308.4(CTSA):c.105C>T (p.Ile35=)
|
rs150140984
|
0.00238
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
NM_000030.3(AGXT):c.732C>A (p.Ile244=)
|
rs147106773
|
0.00234
|
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)
|
rs34664134
|
0.00233
|
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
|
rs117195882
|
0.00231
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_000352.6(ABCC8):c.2391-17G>T
|
rs201484528
|
0.00206
|
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_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000642.2(AGL):c.-208C>T
|
rs563389574
|
0.00192
|
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln)
|
rs150096859
|
0.00188
|
NM_004130.4(GYG1):c.609G>A (p.Val203=)
|
rs75445811
|
0.00188
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys)
|
rs146238335
|
0.00163
|
NM_000891.3(KCNJ2):c.*2483G>A
|
rs559751598
|
0.00158
|
NM_003597.5(KLF11):c.225C>T (p.Val75=)
|
rs144083374
|
0.00158
|
NM_001543.5(NDST1):c.927A>G (p.Pro309=)
|
rs137903526
|
0.00156
|
NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00156
|
NM_001041.4(SI):c.1218C>T (p.Asn406=)
|
rs151296973
|
0.00152
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_000208.4(INSR):c.2682+9C>G
|
rs41398545
|
0.00145
|
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp)
|
rs74000629
|
0.00143
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
NM_002863.5(PYGL):c.*78G>A
|
rs190588867
|
0.00133
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_001366110.1(PAX4):c.636C>T (p.Asp212=)
|
rs141407429
|
0.00131
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
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_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000162.5(GCK):c.364-18A>G
|
rs191255582
|
0.00118
|
NM_000202.8(IDS):c.126C>T (p.Ile42=)
|
rs146963087
|
0.00117
|
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)
|
rs147366495
|
0.00117
|
NM_001041.4(SI):c.3972A>G (p.Pro1324=)
|
rs142838806
|
0.00116
|
NM_000202.8(IDS):c.123C>G (p.Leu41=)
|
rs146904022
|
0.00115
|
NM_000152.5(GAA):c.*288G>T
|
rs568131293
|
0.00113
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
NM_000642.3(AGL):c.*1766G>A
|
rs564167641
|
0.00110
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_000030.3(AGXT):c.573C>T (p.Thr191=)
|
rs146483092
|
0.00108
|
NM_001807.6(CEL):c.1716C>G (p.Pro572=)
|
rs200152972
|
0.00108
|
NM_012096.3(APPL1):c.219T>C (p.Phe73=)
|
rs150282222
|
0.00108
|
NM_000642.3(AGL):c.*604A>G
|
rs189939228
|
0.00106
|
NM_003619.4(PRSS12):c.821-1G>A
|
rs147303693
|
0.00106
|
NM_000352.6(ABCC8):c.1924-17C>T
|
rs117189973
|
0.00105
|
NM_005883.3(APC2):c.5108C>A (p.Ala1703Glu)
|
rs200444154
|
0.00100
|
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu)
|
rs144007007
|
0.00095
|
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)
|
rs371397760
|
0.00095
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000291.4(PGK1):c.909G>C (p.Val303=)
|
rs142525614
|
0.00089
|
NM_006516.4(SLC2A1):c.680-12C>T
|
rs150960456
|
0.00088
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_000291.4(PGK1):c.390G>A (p.Gly130=)
|
rs146350576
|
0.00085
|
NM_001366110.1(PAX4):c.69T>C (p.Pro23=)
|
rs116124047
|
0.00085
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_012203.2(GRHPR):c.234C>T (p.Ile78=)
|
rs143337459
|
0.00082
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_001366110.1(PAX4):c.144+16C>T
|
rs138902071
|
0.00080
|
NM_001807.6(CEL):c.1689A>G (p.Thr563=)
|
rs199941432
|
0.00079
|
NM_001807.6(CEL):c.1692G>T (p.Gly564=)
|
rs200716123
|
0.00079
|
NM_000027.4(AGA):c.376C>G (p.Leu126Val)
|
rs200420067
|
0.00078
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)
|
rs150764699
|
0.00076
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_002294.3(LAMP2):c.*1413A>G
|
rs773379092
|
0.00076
|
NM_002294.3(LAMP2):c.*3488C>T
|
rs773236667
|
0.00074
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
NM_001715.3(BLK):c.1338C>G (p.Arg446=)
|
rs377160616
|
0.00073
|
NM_001807.6(CEL):c.1335C>T (p.Pro445=)
|
rs371892814
|
0.00073
|
NM_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_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
NM_001807.6(CEL):c.1485-8C>T
|
rs185188893
|
0.00072
|
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)
|
rs150800688
|
0.00072
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_000891.3(KCNJ2):c.*2277C>T
|
rs185701493
|
0.00071
|
NM_001041.4(SI):c.876C>T (p.Phe292=)
|
rs139642816
|
0.00070
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000891.3(KCNJ2):c.*1794C>A
|
rs55864879
|
0.00067
|
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)
|
rs562249191
|
0.00066
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
NM_001041.4(SI):c.4541-18T>G
|
rs111418304
|
0.00064
|
NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg)
|
rs150879765
|
0.00064
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)
|
rs145880201
|
0.00062
|
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_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
NM_000642.2(AGL):c.-134C>G
|
rs548243205
|
0.00057
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
NM_001041.4(SI):c.3466C>T (p.Leu1156=)
|
rs144285578
|
0.00056
|
NM_001041.4(SI):c.484-8C>G
|
rs201820421
|
0.00056
|
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val)
|
rs143778652
|
0.00056
|
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr)
|
rs150200902
|
0.00056
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
NM_005327.4(HADH):c.-115delG
|
rs537335460
|
0.00053
|
NM_000642.3(AGL):c.*595A>G
|
rs763929813
|
0.00051
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
|
rs181879065
|
0.00051
|
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)
|
rs115887120
|
0.00051
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_000208.4(INSR):c.2573C>T (p.Thr858Met)
|
rs201466857
|
0.00048
|
NM_001041.4(SI):c.2343T>C (p.Tyr781=)
|
rs539868642
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
NM_001041.4(SI):c.2721T>C (p.Tyr907=)
|
rs140829463
|
0.00047
|
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)
|
rs116455504
|
0.00047
|
NM_000162.5(GCK):c.46-5598A>T
|
rs13306393
|
0.00046
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_001041.4(SI):c.3634-14A>T
|
rs199634091
|
0.00046
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_000642.3(AGL):c.*564T>C
|
rs552782825
|
0.00045
|
NM_001041.4(SI):c.1278+8T>G
|
rs368886500
|
0.00045
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
NM_175914.5(HNF4A):c.999C>T (p.Ile333=)
|
rs150247632
|
0.00045
|
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
|
rs139041112
|
0.00044
|
NM_001041.4(SI):c.885T>C (p.Phe295=)
|
rs141754766
|
0.00044
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)
|
rs180177290
|
0.00043
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00043
|
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)
|
rs199644216
|
0.00043
|
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)
|
rs375754042
|
0.00042
|
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr)
|
rs564129447
|
0.00041
|
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=)
|
rs200413076
|
0.00041
|
NM_001041.4(SI):c.2737G>T (p.Val913Phe)
|
rs200328496
|
0.00041
|
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)
|
rs112622137
|
0.00041
|
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)
|
rs374826256
|
0.00041
|
NM_003477.3(PDHX):c.242-17C>T
|
rs188930453
|
0.00040
|
NM_003597.5(KLF11):c.1503G>A (p.Pro501=)
|
rs36091043
|
0.00040
|
NM_000340.2(SLC2A2):c.963+14C>T
|
rs189551647
|
0.00039
|
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)
|
rs782644732
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_002294.3(LAMP2):c.*4961A>G
|
rs765371462
|
0.00039
|
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser)
|
rs145881639
|
0.00039
|
NM_175914.5(HNF4A):c.921C>T (p.Asp307=)
|
rs151168174
|
0.00039
|
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)
|
rs201183167
|
0.00038
|
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=)
|
rs1800854
|
0.00038
|
NM_001807.6(CEL):c.777+7G>A
|
rs200749469
|
0.00038
|
NM_002294.3(LAMP2):c.*1632A>G
|
rs755434692
|
0.00037
|
NM_000030.3(AGXT):c.424-4T>C
|
rs369523966
|
0.00036
|
NM_000030.3(AGXT):c.777-17C>A
|
rs112319664
|
0.00036
|
NM_000151.4(G6PC1):c.558G>T (p.Leu186=)
|
rs141376085
|
0.00036
|
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)
|
rs78433961
|
0.00036
|
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln)
|
rs141379798
|
0.00036
|
NM_000352.6(ABCC8):c.2390+17G>C
|
rs200705248
|
0.00035
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
|
rs369967348
|
0.00034
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00034
|
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
|
rs142008108
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_001041.4(SI):c.4268-12G>C
|
rs200234624
|
0.00033
|
NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys)
|
rs145362501
|
0.00033
|
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)
|
rs200632199
|
0.00032
|
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu)
|
rs373902181
|
0.00031
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
NM_138413.4(HOGA1):c.603+19G>A
|
rs370990433
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys)
|
rs142702682
|
0.00030
|
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp)
|
rs376443152
|
0.00030
|
NM_000147.4(FUCA1):c.-44G>A
|
rs139832548
|
0.00029
|
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
|
rs144407534
|
0.00029
|
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)
|
rs147428514
|
0.00029
|
NM_000352.6(ABCC8):c.1923+3G>A
|
rs374869130
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_001041.4(SI):c.1919A>G (p.Glu640Gly)
|
rs142789249
|
0.00028
|
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr)
|
rs143596402
|
0.00028
|
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)
|
rs142046439
|
0.00027
|
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)
|
rs75076115
|
0.00027
|
NM_002863.5(PYGL):c.1828-9T>A
|
rs372338710
|
0.00027
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)
|
rs201287443
|
0.00027
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
NM_000203.5(IDUA):c.-71C>T
|
rs886059748
|
0.00026
|
NM_000291.4(PGK1):c.642-20A>C
|
rs201622343
|
0.00026
|
NM_000434.4(NEU1):c.486C>T (p.Ala162=)
|
rs115588976
|
0.00026
|
NM_000458.4(HNF1B):c.1207-18T>C
|
rs199849203
|
0.00026
|
NM_001041.4(SI):c.322T>G (p.Phe108Val)
|
rs146006371
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln)
|
rs145390070
|
0.00025
|
NM_006765.4(TUSC3):c.1028+11T>C
|
rs187670751
|
0.00025
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000162.5(GCK):c.208+17G>A
|
rs199822205
|
0.00024
|
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=)
|
rs149362007
|
0.00024
|
NM_001041.4(SI):c.2301+20T>G
|
rs576773147
|
0.00024
|
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln)
|
rs147182402
|
0.00024
|
NM_001366110.1(PAX4):c.762C>T (p.Ile254=)
|
rs147670794
|
0.00024
|
NM_001715.3(BLK):c.368+13G>A
|
rs199644751
|
0.00024
|
NM_002294.3(LAMP2):c.*5172A>G
|
rs778592348
|
0.00024
|
NM_012203.2(GRHPR):c.345A>T (p.Ala115=)
|
rs147053190
|
0.00024
|
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys)
|
rs199893133
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
|
rs202177461
|
0.00022
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
NM_000891.3(KCNJ2):c.*3536C>T
|
rs529969829
|
0.00022
|
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)
|
rs115923648
|
0.00022
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val)
|
rs115159138
|
0.00022
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)
|
rs56395521
|
0.00021
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
NM_000642.3(AGL):c.622T>C (p.Trp208Arg)
|
rs202084554
|
0.00021
|
NM_001041.4(SI):c.1587G>A (p.Pro529=)
|
rs531422962
|
0.00021
|
NM_001715.3(BLK):c.424A>G (p.Ile142Val)
|
rs562247916
|
0.00021
|
NM_005566.4(LDHA):c.777G>A (p.Leu259=)
|
rs137996815
|
0.00021
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)
|
rs118028009
|
0.00020
|
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)
|
rs143987049
|
0.00020
|
NM_001041.4(SI):c.2828G>C (p.Cys943Ser)
|
rs375113759
|
0.00020
|
NM_000151.4(G6PC1):c.81G>C (p.Gln27His)
|
rs371611000
|
0.00019
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000207.3(INS):c.-153C>G
|
rs915076855
|
0.00019
|
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser)
|
rs141412905
|
0.00019
|
NM_000642.3(AGL):c.*2160C>T
|
rs753401733
|
0.00019
|
NM_001041.4(SI):c.1285G>A (p.Ala429Thr)
|
rs556583179
|
0.00019
|
NM_001041.4(SI):c.1544G>T (p.Gly515Val)
|
rs144972103
|
0.00019
|
NM_001041.4(SI):c.3732C>T (p.Asp1244=)
|
rs200449490
|
0.00019
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
NM_175914.5(HNF4A):c.724G>A (p.Val242Met)
|
rs139779712
|
0.00019
|
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=)
|
rs143991162
|
0.00018
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=)
|
rs5408
|
0.00018
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr)
|
rs375443860
|
0.00018
|
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)
|
rs371426683
|
0.00018
|
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln)
|
rs146389992
|
0.00018
|
NM_031229.4(RBCK1):c.-9C>A
|
rs140276089
|
0.00018
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
0.00017
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)
|
rs140481863
|
0.00017
|
NM_001807.6(CEL):c.1677T>C (p.Pro559=)
|
rs527908529
|
0.00017
|
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr)
|
rs140508520
|
0.00017
|
NM_005566.4(LDHA):c.594G>C (p.Val198=)
|
rs373534867
|
0.00017
|
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr)
|
rs573292460
|
0.00017
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_000343.4(SLC5A1):c.208-8G>A
|
rs199783226
|
0.00016
|
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
|
rs201800716
|
0.00016
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)
|
rs753397171
|
0.00016
|
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)
|
rs187532711
|
0.00016
|
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn)
|
rs138461745
|
0.00016
|
NM_003597.5(KLF11):c.992G>T (p.Gly331Val)
|
rs151317435
|
0.00016
|
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)
|
rs200688234
|
0.00016
|
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile)
|
rs141723499
|
0.00016
|
NM_138413.4(HOGA1):c.579G>A (p.Val193=)
|
rs142057128
|
0.00016
|
NM_138413.4(HOGA1):c.715G>A (p.Val239Ile)
|
rs189919790
|
0.00016
|
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
|
rs372961495
|
0.00016
|
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
|
rs371314015
|
0.00015
|
NM_000199.5(SGSH):c.276C>G (p.His92Gln)
|
rs201478799
|
0.00015
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala)
|
rs148399096
|
0.00015
|
NM_000545.8(HNF1A):c.-258A>G
|
rs756136537
|
0.00015
|
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)
|
rs375330016
|
0.00015
|
NM_001041.4(SI):c.5108+16A>G
|
rs149803140
|
0.00015
|
NM_001366110.1(PAX4):c.563-11G>A
|
rs376403180
|
0.00015
|
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser)
|
rs199605698
|
0.00015
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
NM_003597.5(KLF11):c.437C>T (p.Ala146Val)
|
rs148968483
|
0.00015
|
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00015
|
NM_000027.4(AGA):c.793C>T (p.Arg265Cys)
|
rs146710132
|
0.00014
|
NM_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
NM_000458.4(HNF1B):c.1046-12G>A
|
rs201751705
|
0.00014
|
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)
|
rs150637770
|
0.00014
|
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser)
|
rs139950099
|
0.00014
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
NM_000642.3(AGL):c.4076G>A (p.Arg1359His)
|
rs201533636
|
0.00014
|
NM_000891.3(KCNJ2):c.*1128dup
|
rs777658732
|
0.00014
|
NM_000891.3(KCNJ2):c.*213G>A
|
rs886053326
|
0.00014
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
NM_001041.4(SI):c.2150T>A (p.Val717Asp)
|
rs188320908
|
0.00014
|
NM_001041.4(SI):c.325G>A (p.Val109Ile)
|
rs149498200
|
0.00014
|
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)
|
rs142090504
|
0.00014
|
NM_001041.4(SI):c.5109-15A>C
|
rs371915462
|
0.00014
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_001366110.1(PAX4):c.345G>A (p.Gln115=)
|
rs115157546
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_005566.4(LDHA):c.558T>C (p.His186=)
|
rs570034363
|
0.00014
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
NM_000202.8(IDS):c.103+7C>T
|
rs369735286
|
0.00013
|
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)
|
rs121965025
|
0.00013
|
NM_000209.4(PDX1):c.296C>A (p.Pro99His)
|
rs764870332
|
0.00013
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970
|
0.00013
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)
|
rs139760182
|
0.00013
|
NM_000891.3(KCNJ2):c.*2887T>G
|
rs770284843
|
0.00013
|
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)
|
rs373799322
|
0.00013
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=)
|
rs147643871
|
0.00013
|
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr)
|
rs201834329
|
0.00013
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
NM_000030.3(AGXT):c.596-7T>C
|
rs368799073
|
0.00012
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln)
|
rs1357043267
|
0.00012
|
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
|
rs147453689
|
0.00012
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_001041.4(SI):c.4849G>C (p.Asp1617His)
|
rs202225928
|
0.00012
|
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)
|
rs121918404
|
0.00012
|
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys)
|
rs201397971
|
0.00011
|
NM_000035.4(ALDOB):c.445C>T (p.Arg149Cys)
|
rs190464963
|
0.00011
|
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)
|
rs768385469
|
0.00011
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)
|
rs137852785
|
0.00011
|
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys)
|
rs144705160
|
0.00011
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
0.00011
|
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His)
|
rs145935651
|
0.00011
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
|
rs141035459
|
0.00011
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
NM_001041.4(SI):c.2599T>C (p.Tyr867His)
|
rs140230726
|
0.00011
|
NM_001041.4(SI):c.5C>A (p.Ala2Glu)
|
rs201612742
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys)
|
rs150009231
|
0.00011
|
NM_001715.3(BLK):c.772+16C>T
|
rs200129390
|
0.00011
|
NM_001715.3(BLK):c.809C>T (p.Thr270Met)
|
rs368427116
|
0.00011
|
NM_001807.6(CEL):c.358G>A (p.Val120Ile)
|
rs201336247
|
0.00011
|
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile)
|
rs147863207
|
0.00011
|
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)
|
rs143177272
|
0.00011
|
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val)
|
rs150805048
|
0.00011
|
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)
|
rs369950120
|
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_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000291.4(PGK1):c.937-8C>T
|
rs367749559
|
0.00010
|
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)
|
rs199541853
|
0.00010
|
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=)
|
rs778961697
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000525.4(KCNJ11):c.-54C>T
|
rs1016780684
|
0.00010
|
NM_000642.3(AGL):c.*1224C>T
|
rs12563807
|
0.00010
|
NM_000642.3(AGL):c.*1691A>G
|
rs886044933
|
0.00010
|
NM_000891.3(KCNJ2):c.*3409A>G
|
rs551384883
|
0.00010
|
NM_000925.4(PDHB):c.10G>A (p.Val4Met)
|
rs201470762
|
0.00010
|
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)
|
rs542486536
|
0.00010
|
NM_001041.4(SI):c.1378A>T (p.Ser460Cys)
|
rs141450837
|
0.00010
|
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)
|
rs200451408
|
0.00010
|
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)
|
rs138927818
|
0.00010
|
NM_001041.4(SI):c.4062+18T>C
|
rs367787760
|
0.00010
|
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val)
|
rs769398594
|
0.00010
|
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)
|
rs782703235
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_001715.3(BLK):c.139C>G (p.Leu47Val)
|
rs202045056
|
0.00010
|
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala)
|
rs587780310
|
0.00010
|
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)
|
rs139230055
|
0.00010
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)
|
rs146195866
|
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_000046.5(ARSB):c.181G>A (p.Gly61Ser)
|
rs375647920
|
0.00009
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys)
|
rs376546162
|
0.00009
|
NM_000162.5(GCK):c.9C>T (p.Asp3=)
|
rs142553382
|
0.00009
|
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)
|
rs751604358
|
0.00009
|
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
rs369970264
|
0.00009
|
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile)
|
rs121909741
|
0.00009
|
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)
|
rs751917665
|
0.00009
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=)
|
rs368134766
|
0.00009
|
NM_000458.4(HNF1B):c.1534+11G>A
|
rs373875820
|
0.00009
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
0.00009
|
NM_000525.4(KCNJ11):c.*218G>T
|
rs886048039
|
0.00009
|
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala)
|
rs761479006
|
0.00009
|
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp)
|
rs370797337
|
0.00009
|
NM_001041.4(SI):c.1686T>C (p.Tyr562=)
|
rs763063946
|
0.00009
|
NM_001041.4(SI):c.1694G>C (p.Ser565Thr)
|
rs149898910
|
0.00009
|
NM_001041.4(SI):c.4000-18A>G
|
rs764830211
|
0.00009
|
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met)
|
rs201233141
|
0.00009
|
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
|
rs370839177
|
0.00009
|
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln)
|
rs375269956
|
0.00009
|
NM_001366110.1(PAX4):c.498C>T (p.His166=)
|
rs143156250
|
0.00009
|
NM_002294.3(LAMP2):c.1093+2544A>G
|
rs777128122
|
0.00009
|
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp)
|
rs369032377
|
0.00009
|
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro)
|
rs147634094
|
0.00009
|
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro)
|
rs776725808
|
0.00009
|
NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr)
|
rs369444528
|
0.00009
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)
|
rs121918419
|
0.00009
|
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)
|
rs142883089
|
0.00009
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000291.4(PGK1):c.129T>C (p.Ala43=)
|
rs781822299
|
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.1662T>G (p.Ala554=)
|
rs368782953
|
0.00008
|
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)
|
rs201351976
|
0.00008
|
NM_000352.6(ABCC8):c.765C>T (p.Ile255=)
|
rs753335564
|
0.00008
|
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)
|
rs781480098
|
0.00008
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)
|
rs779375959
|
0.00008
|
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser)
|
rs72554079
|
0.00008
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)
|
rs770791374
|
0.00008
|
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)
|
rs558217174
|
0.00008
|
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00008
|
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys)
|
rs375254875
|
0.00008
|
NM_001041.4(SI):c.3331A>G (p.Ile1111Val)
|
rs145913658
|
0.00008
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
NM_002076.4(GNS):c.*3dup
|
rs766104697
|
0.00008
|
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile)
|
rs755299574
|
0.00008
|
NM_003041.4(SLC5A2):c.500del (p.Gln167fs)
|
rs267607067
|
0.00008
|
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu)
|
rs145588324
|
0.00008
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00008
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
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_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00007
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)
|
rs369102740
|
0.00007
|
NM_000209.4(PDX1):c.498A>G (p.Leu166=)
|
rs780117858
|
0.00007
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
NM_000340.2(SLC2A2):c.372-16C>T
|
rs372176041
|
0.00007
|
NM_000340.2(SLC2A2):c.496+6_496+7dup
|
rs111737375
|
0.00007
|
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)
|
rs376080397
|
0.00007
|
NM_000458.4(HNF1B):c.1534+10C>T
|
rs368168569
|
0.00007
|
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys)
|
rs199660743
|
0.00007
|
NM_000642.3(AGL):c.846+8T>A
|
rs372517543
|
0.00007
|
NM_000891.3(KCNJ2):c.*2616A>G
|
rs542407766
|
0.00007
|
NM_001041.4(SI):c.5049A>G (p.Leu1683=)
|
rs199658617
|
0.00007
|
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)
|
rs11552539
|
0.00007
|
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)
|
rs368678559
|
0.00007
|
NM_001715.3(BLK):c.859G>A (p.Val287Met)
|
rs1042687
|
0.00007
|
NM_002294.3(LAMP2):c.*1191A>T
|
rs1004327482
|
0.00007
|
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr)
|
rs767837260
|
0.00007
|
NM_005566.4(LDHA):c.127-14T>C
|
rs764597107
|
0.00007
|
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr)
|
rs749358752
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_012203.2(GRHPR):c.180C>T (p.Ser60=)
|
rs139689525
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn)
|
rs775641463
|
0.00007
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_000030.3(AGXT):c.1002C>T (p.Asp334=)
|
rs370897272
|
0.00006
|
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys)
|
rs376844297
|
0.00006
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser)
|
rs376684240
|
0.00006
|
NM_000030.3(AGXT):c.888G>A (p.Ala296=)
|
rs979513298
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
|
rs369472089
|
0.00006
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00006
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000202.8(IDS):c.753C>T (p.Pro251=)
|
rs782051908
|
0.00006
|
NM_000208.4(INSR):c.1628C>T (p.Thr543Met)
|
rs767160876
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000289.6(PFKM):c.857G>A (p.Arg286His)
|
rs768496070
|
0.00006
|
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)
|
rs199644680
|
0.00006
|
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn)
|
rs782165735
|
0.00006
|
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)
|
rs531684936
|
0.00006
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
NM_000352.6(ABCC8):c.647G>A (p.Arg216His)
|
rs199702708
|
0.00006
|
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)
|
rs376279459
|
0.00006
|
NM_000642.3(AGL):c.*1075T>A
|
rs886044931
|
0.00006
|
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser)
|
rs180768312
|
0.00006
|
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)
|
rs576969969
|
0.00006
|
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg)
|
rs773044002
|
0.00006
|
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg)
|
rs149914040
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_000891.3(KCNJ2):c.*2065A>G
|
rs778894111
|
0.00006
|
NM_001041.4(SI):c.4873T>G (p.Phe1625Val)
|
rs149414344
|
0.00006
|
NM_001041.4(SI):c.5198-7T>C
|
rs200924086
|
0.00006
|
NM_001041.4(SI):c.748C>T (p.Arg250Cys)
|
rs200745562
|
0.00006
|
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)
|
rs782025581
|
0.00006
|
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00006
|
NM_001366110.1(PAX4):c.572G>A (p.Arg191His)
|
rs145284016
|
0.00006
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu)
|
rs774976739
|
0.00006
|
NM_001715.3(BLK):c.675G>A (p.Pro225=)
|
rs761122806
|
0.00006
|
NM_001807.6(CEL):c.670-4G>A
|
rs371303105
|
0.00006
|
NM_002294.3(LAMP2):c.*3689T>C
|
rs975386272
|
0.00006
|
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser)
|
rs766491800
|
0.00006
|
NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=)
|
rs778703927
|
0.00006
|
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala)
|
rs371605092
|
0.00006
|
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=)
|
rs539749063
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg)
|
rs200061013
|
0.00006
|
NM_004130.4(GYG1):c.175A>G (p.Ile59Val)
|
rs535548906
|
0.00006
|
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)
|
rs750032282
|
0.00006
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00006
|
NM_006721.4(ADK):c.66-23885T>A
|
rs370191448
|
0.00006
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala)
|
rs372477546
|
0.00006
|
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=)
|
rs201470953
|
0.00006
|
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)
|
rs761054871
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
NM_000030.3(AGXT):c.353G>A (p.Arg118His)
|
rs138025751
|
0.00005
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)
|
rs202134230
|
0.00005
|
NM_000151.4(G6PC1):c.*103C>T
|
rs1032152255
|
0.00005
|
NM_000151.4(G6PC1):c.786C>T (p.Leu262=)
|
rs138509513
|
0.00005
|
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn)
|
rs750711451
|
0.00005
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
NM_000155.4(GALT):c.611G>A (p.Arg204Gln)
|
rs111033740
|
0.00005
|
NM_000162.5(GCK):c.270G>A (p.Lys90=)
|
rs571528578
|
0.00005
|
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)
|
rs200921389
|
0.00005
|
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)
|
rs929302665
|
0.00005
|
NM_000291.4(PGK1):c.248T>C (p.Val83Ala)
|
rs138851144
|
0.00005
|
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys)
|
rs200308405
|
0.00005
|
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe)
|
rs201689857
|
0.00005
|
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met)
|
rs200727862
|
0.00005
|
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=)
|
rs556416269
|
0.00005
|
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile)
|
rs771882862
|
0.00005
|
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser)
|
rs1057517139
|
0.00005
|
NM_000404.4(GLB1):c.602G>A (p.Arg201His)
|
rs189115557
|
0.00005
|
NM_000891.3(KCNJ2):c.*709A>G
|
rs950748341
|
0.00005
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)
|
rs140878602
|
0.00005
|
NM_001041.4(SI):c.1420T>C (p.Tyr474His)
|
rs771986263
|
0.00005
|
NM_001041.4(SI):c.2074C>T (p.Arg692Cys)
|
rs371618948
|
0.00005
|
NM_001041.4(SI):c.2380G>A (p.Gly794Ser)
|
rs138778317
|
0.00005
|
NM_001041.4(SI):c.2894G>A (p.Gly965Asp)
|
rs144419320
|
0.00005
|
NM_001041.4(SI):c.4000-15T>A
|
rs201336234
|
0.00005
|
NM_001041.4(SI):c.4500C>T (p.Asp1500=)
|
rs553547580
|
0.00005
|
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)
|
rs199881454
|
0.00005
|
NM_001041.4(SI):c.807+8A>G
|
rs759240554
|
0.00005
|
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)
|
rs537115620
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)
|
rs202228620
|
0.00005
|
NM_002076.4(GNS):c.791C>T (p.Thr264Met)
|
rs575544204
|
0.00005
|
NM_002294.3(LAMP2):c.*2538A>C
|
rs1057515739
|
0.00005
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
NM_002299.4(LCT):c.4173+5G>A
|
rs575414951
|
0.00005
|
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys)
|
rs764563027
|
0.00005
|
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln)
|
rs563767876
|
0.00005
|
NM_005609.4(PYGM):c.193G>A (p.Val65Met)
|
rs149658961
|
0.00005
|
NM_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
0.00005
|
NM_012203.2(GRHPR):c.342C>T (p.Leu114=)
|
rs374108537
|
0.00005
|
NM_012203.2(GRHPR):c.357A>G (p.Leu119=)
|
rs186922220
|
0.00005
|
NM_013995.2(LAMP2):c.-154T>C
|
rs999307628
|
0.00005
|
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)
|
rs761196275
|
0.00005
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)
|
rs201157731
|
0.00005
|
NM_031466.8(TRAPPC9):c.-73G>C
|
rs767996463
|
0.00005
|
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)
|
rs202073574
|
0.00005
|
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)
|
rs371557531
|
0.00005
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000035.4(ALDOB):c.401G>A (p.Arg134His)
|
rs145252200
|
0.00004
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)
|
rs202190197
|
0.00004
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
NM_000151.4(G6PC1):c.804C>T (p.Leu268=)
|
rs377077333
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
NM_000152.5(GAA):c.762G>A (p.Ser254=)
|
rs533960093
|
0.00004
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000162.5(GCK):c.646G>A (p.Glu216Lys)
|
rs778550411
|
0.00004
|
NM_000162.5(GCK):c.834C>T (p.Asp278=)
|
rs200071687
|
0.00004
|
NM_000162.5(GCK):c.836A>G (p.Glu279Gly)
|
rs143484733
|
0.00004
|
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)
|
rs751025746
|
0.00004
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)
|
rs372934646
|
0.00004
|
NM_000291.4(PGK1):c.116+8C>T
|
rs369581587
|
0.00004
|
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)
|
rs138299462
|
0.00004
|
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)
|
rs121909743
|
0.00004
|
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp)
|
rs33948878
|
0.00004
|
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=)
|
rs112488640
|
0.00004
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys)
|
rs768448830
|
0.00004
|
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)
|
rs372153432
|
0.00004
|
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val)
|
rs368450282
|
0.00004
|
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)
|
rs771106160
|
0.00004
|
NM_000352.6(ABCC8):c.480C>T (p.His160=)
|
rs769858502
|
0.00004
|
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr)
|
rs756552692
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
NM_000458.4(HNF1B):c.723G>A (p.Ala241=)
|
rs768490293
|
0.00004
|
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)
|
rs141171091
|
0.00004
|
NM_000512.5(GALNS):c.715G>A (p.Val239Ile)
|
rs145131011
|
0.00004
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00004
|
NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
|
rs193922583
|
0.00004
|
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)
|
rs143753579
|
0.00004
|
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)
|
rs201095611
|
0.00004
|
NM_000545.8(HNF1A):c.713+13G>A
|
rs755961371
|
0.00004
|
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)
|
rs751761766
|
0.00004
|
NM_000642.3(AGL):c.*670A>G
|
rs886044927
|
0.00004
|
NM_000642.3(AGL):c.1049T>C (p.Met350Thr)
|
rs761122742
|
0.00004
|
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)
|
rs754606378
|
0.00004
|
NM_000642.3(AGL):c.2357C>T (p.Thr786Met)
|
rs147586981
|
0.00004
|
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly)
|
rs374531404
|
0.00004
|
NM_000642.3(AGL):c.3258A>T (p.Ala1086=)
|
rs779468425
|
0.00004
|
NM_000642.3(AGL):c.325G>T (p.Val109Leu)
|
rs369068676
|
0.00004
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
NM_000642.3(AGL):c.767G>A (p.Arg256His)
|
rs200180652
|
0.00004
|
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)
|
rs766143485
|
0.00004
|
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)
|
rs200676705
|
0.00004
|
NM_001040716.2(PC):c.561C>T (p.Tyr187=)
|
rs145333590
|
0.00004
|
NM_001041.4(SI):c.1887+8A>C
|
rs372410648
|
0.00004
|
NM_001041.4(SI):c.1943G>A (p.Arg648Lys)
|
rs375458342
|
0.00004
|
NM_001041.4(SI):c.2159+11C>T
|
rs761959886
|
0.00004
|
NM_001041.4(SI):c.2891C>T (p.Thr964Met)
|
rs369115304
|
0.00004
|
NM_001041.4(SI):c.3955G>A (p.Val1319Ile)
|
rs376972966
|
0.00004
|
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile)
|
rs376437234
|
0.00004
|
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys)
|
rs767701775
|
0.00004
|
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr)
|
rs369134336
|
0.00004
|
NM_001041.4(SI):c.695G>A (p.Arg232His)
|
rs747345955
|
0.00004
|
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)
|
rs782480303
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)
|
rs782500443
|
0.00004
|
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)
|
rs141105181
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)
|
rs369459316
|
0.00004
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001715.3(BLK):c.465C>G (p.Thr155=)
|
rs375035401
|
0.00004
|
NM_001715.3(BLK):c.672C>T (p.Ala224=)
|
rs201252364
|
0.00004
|
NM_002076.4(GNS):c.415A>G (p.Met139Val)
|
rs142588770
|
0.00004
|
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val)
|
rs397516741
|
0.00004
|
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu)
|
rs769378984
|
0.00004
|
NM_002500.5(NEUROD1):c.741C>A (p.His247Gln)
|
rs201542440
|
0.00004
|
NM_002500.5(NEUROD1):c.746A>G (p.Tyr249Cys)
|
rs780520468
|
0.00004
|
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)
|
rs766548165
|
0.00004
|
NM_003041.4(SLC5A2):c.1280+1G>A
|
rs554372141
|
0.00004
|
NM_004563.4(PCK2):c.424C>T (p.Arg142Ter)
|
rs746104381
|
0.00004
|
NM_005566.4(LDHA):c.951G>A (p.Lys317=)
|
rs145889467
|
0.00004
|
NM_005908.4(MANBA):c.1131G>C (p.Gln377His)
|
rs762175890
|
0.00004
|
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys)
|
rs200133664
|
0.00004
|
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val)
|
rs141947405
|
0.00004
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)
|
rs368637364
|
0.00004
|
NM_021957.4(GYS2):c.1128C>T (p.Asn376=)
|
rs139043251
|
0.00004
|
NM_138413.4(HOGA1):c.269T>A (p.Leu90His)
|
rs373226228
|
0.00004
|
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val)
|
rs149896778
|
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_138413.4(HOGA1):c.720C>T (p.Cys240=)
|
rs183301169
|
0.00004
|
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu)
|
rs368276974
|
0.00004
|
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
|
rs267606764
|
0.00004
|
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser)
|
rs374892647
|
0.00004
|
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=)
|
rs751892618
|
0.00004
|
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)
|
rs780342162
|
0.00004
|
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)
|
rs747928745
|
0.00004
|
NM_175914.5(HNF4A):c.468G>A (p.Ala156=)
|
rs758124162
|
0.00004
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000030.3(AGXT):c.423+12G>A
|
rs574091775
|
0.00003
|
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)
|
rs536205988
|
0.00003
|
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser)
|
rs180177260
|
0.00003
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_000035.4(ALDOB):c.128G>A (p.Arg43His)
|
rs780442649
|
0.00003
|
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)
|
rs373345919
|
0.00003
|
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)
|
rs80356482
|
0.00003
|
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)
|
rs776704385
|
0.00003
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
|
rs762255493
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00003
|
NM_000155.4(GALT):c.777G>A (p.Arg259=)
|
rs111033761
|
0.00003
|
NM_000162.5(GCK):c.301G>A (p.Val101Met)
|
rs762922697
|
0.00003
|
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)
|
rs765983374
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
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_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg)
|
rs753881947
|
0.00003
|
NM_000209.4(PDX1):c.820G>T (p.Val274Phe)
|
rs930365498
|
0.00003
|
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)
|
rs778051353
|
0.00003
|
NM_000340.2(SLC2A2):c.109-19A>G
|
rs182772346
|
0.00003
|
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)
|
rs191697443
|
0.00003
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000352.6(ABCC8):c.603G>A (p.Pro201=)
|
rs765113879
|
0.00003
|
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)
|
rs778892038
|
0.00003
|
NM_000352.6(ABCC8):c.822+3C>T
|
rs370697909
|
0.00003
|
NM_000352.6(ABCC8):c.822+7G>A
|
rs765890511
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
0.00003
|
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)
|
rs779257235
|
0.00003
|
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)
|
rs770609243
|
0.00003
|
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)
|
rs750778014
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)
|
rs149667199
|
0.00003
|
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)
|
rs370760999
|
0.00003
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.2681+1G>A
|
rs201201443
|
0.00003
|
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val)
|
rs867496787
|
0.00003
|
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser)
|
rs769812980
|
0.00003
|
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp)
|
rs749445010
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000891.3(KCNJ2):c.*2698T>C
|
rs368668294
|
0.00003
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001041.4(SI):c.1762C>T (p.Arg588Cys)
|
rs201583834
|
0.00003
|
NM_001041.4(SI):c.1995C>T (p.Asp665=)
|
rs757380218
|
0.00003
|
NM_001041.4(SI):c.2566-11A>G
|
rs747570138
|
0.00003
|
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)
|
rs756776020
|
0.00003
|
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala)
|
rs768100667
|
0.00003
|
NM_001041.4(SI):c.375A>G (p.Gly125=)
|
rs960922254
|
0.00003
|
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr)
|
rs779805310
|
0.00003
|
NM_001041.4(SI):c.417T>G (p.Phe139Leu)
|
rs758407768
|
0.00003
|
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)
|
rs200328403
|
0.00003
|
NM_001041.4(SI):c.5266A>G (p.Ile1756Val)
|
rs535971512
|
0.00003
|
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys)
|
rs913893905
|
0.00003
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)
|
rs775311483
|
0.00003
|
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)
|
rs377180238
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)
|
rs371116229
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
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_001715.3(BLK):c.67T>C (p.Trp23Arg)
|
rs574731221
|
0.00003
|
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys)
|
rs730880497
|
0.00003
|
NM_002294.3(LAMP2):c.65-20A>T
|
rs773064698
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys)
|
rs757875185
|
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.2128dup (p.Gln710fs)
|
rs757141803
|
0.00003
|
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe)
|
rs755207439
|
0.00003
|
NM_005566.4(LDHA):c.137A>T (p.Asp46Val)
|
rs201460924
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
NM_016203.4(PRKAG2):c.-397G>C
|
rs886062106
|
0.00003
|
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)
|
rs767950372
|
0.00003
|
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala)
|
rs776292240
|
0.00003
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
0.00003
|
NM_138413.4(HOGA1):c.812G>A (p.Arg271His)
|
rs750974539
|
0.00003
|
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys)
|
rs149150736
|
0.00003
|
NM_138413.4(HOGA1):c.953G>A (p.Arg318His)
|
rs201347931
|
0.00003
|
NM_175914.5(HNF4A):c.1064-18G>A
|
rs773235761
|
0.00003
|
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)
|
rs377151067
|
0.00003
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)
|
rs199796094
|
0.00003
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
NM_000046.5(ARSB):c.1143-1G>C
|
rs431905495
|
0.00002
|
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)
|
rs750470654
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)
|
rs748788550
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser)
|
rs745378120
|
0.00002
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)
|
rs762945205
|
0.00002
|
NM_000162.5(GCK):c.10G>A (p.Asp4Asn)
|
rs202091228
|
0.00002
|
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
|
rs762419802
|
0.00002
|
NM_000162.5(GCK):c.784G>A (p.Asp262Asn)
|
rs779460424
|
0.00002
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)
|
rs950667822
|
0.00002
|
NM_000208.4(INSR):c.2121C>T (p.Gly707=)
|
rs753257847
|
0.00002
|
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala)
|
rs1380564366
|
0.00002
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser)
|
rs781839243
|
0.00002
|
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp)
|
rs201238498
|
0.00002
|
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)
|
rs201953584
|
0.00002
|
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)
|
rs121909742
|
0.00002
|
NM_000340.2(SLC2A2):c.371+19T>C
|
rs752870085
|
0.00002
|
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly)
|
rs780873643
|
0.00002
|
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln)
|
rs200352654
|
0.00002
|
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)
|
rs777391124
|
0.00002
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=)
|
rs371181016
|
0.00002
|
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
|
rs1331539684
|
0.00002
|
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)
|
rs779736828
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=)
|
rs754554936
|
0.00002
|
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)
|
rs1254230359
|
0.00002
|
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His)
|
rs1057523131
|
0.00002
|
NM_000352.6(ABCC8):c.702C>T (p.Asn234=)
|
rs758289249
|
0.00002
|
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
|
rs72555391
|
0.00002
|
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)
|
rs748830051
|
0.00002
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)
|
rs375625110
|
0.00002
|
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr)
|
rs372585484
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser)
|
rs1554901851
|
0.00002
|
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu)
|
rs756424776
|
0.00002
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser)
|
rs747721968
|
0.00002
|
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)
|
rs199700264
|
0.00002
|
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys)
|
rs765088432
|
0.00002
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
NM_000642.3(AGL):c.1729A>G (p.Ile577Val)
|
rs762529905
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly)
|
rs1245795149
|
0.00002
|
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)
|
rs768133891
|
0.00002
|
NM_000642.3(AGL):c.966G>A (p.Arg322=)
|
rs199905460
|
0.00002
|
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)
|
rs775072430
|
0.00002
|
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr)
|
rs1464614105
|
0.00002
|
NM_001040716.2(PC):c.3034A>G (p.Met1012Val)
|
rs1030212351
|
0.00002
|
NM_001041.4(SI):c.1303C>T (p.Arg435Cys)
|
rs370325800
|
0.00002
|
NM_001041.4(SI):c.178T>C (p.Ser60Pro)
|
rs755487744
|
0.00002
|
NM_001041.4(SI):c.3888+12G>A
|
rs766861562
|
0.00002
|
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu)
|
rs574552408
|
0.00002
|
NM_001041.4(SI):c.653G>T (p.Gly218Val)
|
rs775308282
|
0.00002
|
NM_001041.4(SI):c.788G>A (p.Arg263Gln)
|
rs143135955
|
0.00002
|
NM_001041.4(SI):c.969T>C (p.Phe323=)
|
rs780057549
|
0.00002
|
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)
|
rs782255299
|
0.00002
|
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
|
rs1035199340
|
0.00002
|
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)
|
rs781834870
|
0.00002
|
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)
|
rs376730573
|
0.00002
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001715.3(BLK):c.27G>A (p.Pro9=)
|
rs536630306
|
0.00002
|
NM_001807.6(CEL):c.895+2dup
|
rs1027973097
|
0.00002
|
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter)
|
rs749118441
|
0.00002
|
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys)
|
rs1556296540
|
0.00002
|
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)
|
rs148410166
|
0.00002
|
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro)
|
rs750441217
|
0.00002
|
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala)
|
rs753477563
|
0.00002
|
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln)
|
rs368207952
|
0.00002
|
NM_005566.4(LDHA):c.-24-10C>G
|
rs200267888
|
0.00002
|
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)
|
rs769805782
|
0.00002
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00002
|
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)
|
rs776680924
|
0.00002
|
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)
|
rs753533515
|
0.00002
|
NM_012203.2(GRHPR):c.108G>A (p.Ser36=)
|
rs377072887
|
0.00002
|
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys)
|
rs370733771
|
0.00002
|
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)
|
rs180177316
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr)
|
rs763397227
|
0.00002
|
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)
|
rs758304537
|
0.00002
|
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg)
|
rs778171847
|
0.00002
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00002
|
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
|
rs377050184
|
0.00002
|
NM_152419.3(HGSNAT):c.372-2A>G
|
rs483352896
|
0.00002
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
NM_000027.4(AGA):c.404T>C (p.Phe135Ser)
|
rs386833427
|
0.00001
|
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)
|
rs1306999394
|
0.00001
|
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)
|
rs180177161
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000030.3(AGXT):c.1174C>T (p.Leu392=)
|
rs180177167
|
0.00001
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
0.00001
|
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala)
|
rs1334695460
|
0.00001
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
NM_000030.3(AGXT):c.375G>C (p.Pro125=)
|
rs754716643
|
0.00001
|
NM_000030.3(AGXT):c.596-10C>T
|
rs890462970
|
0.00001
|
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)
|
rs886055840
|
0.00001
|
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)
|
rs180177246
|
0.00001
|
NM_000030.3(AGXT):c.660C>T (p.Ile220=)
|
rs780078312
|
0.00001
|
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile)
|
rs754037121
|
0.00001
|
NM_000030.3(AGXT):c.743C>T (p.Ala248Val)
|
rs372482918
|
0.00001
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
NM_000030.3(AGXT):c.846+5A>G
|
rs200916936
|
0.00001
|
NM_000030.3(AGXT):c.981C>T (p.Pro327=)
|
rs760409952
|
0.00001
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln)
|
rs141267935
|
0.00001
|
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val)
|
rs755508323
|
0.00001
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)
|
rs1299207831
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
NM_000151.4(G6PC1):c.108C>T (p.Ile36=)
|
rs148461633
|
0.00001
|
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val)
|
rs774215572
|
0.00001
|
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser)
|
rs753502076
|
0.00001
|
NM_000151.4(G6PC1):c.231-1G>A
|
rs1555559279
|
0.00001
|
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)
|
rs777552825
|
0.00001
|
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)
|
rs515726229
|
0.00001
|
NM_000151.4(G6PC1):c.723C>T (p.Ala241=)
|
rs762967975
|
0.00001
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
NM_000151.4(G6PC1):c.822T>C (p.Ala274=)
|
rs761361643
|
0.00001
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000152.5(GAA):c.1076-1G>C
|
rs1555600050
|
0.00001
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
|
rs772730706
|
0.00001
|
NM_000152.5(GAA):c.1326+20G>A
|
rs774138443
|
0.00001
|
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)
|
rs2039191738
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
|
rs768500880
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
|
rs767191385
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
|
rs763612880
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
NM_000152.5(GAA):c.2619C>T (p.Tyr873=)
|
rs1555603132
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
NM_000152.5(GAA):c.425G>A (p.Ser142Asn)
|
rs754195673
|
0.00001
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
NM_000152.5(GAA):c.514A>G (p.Met172Val)
|
rs1307823755
|
0.00001
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
|
rs1470881018
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000152.5(GAA):c.783C>T (p.Ala261=)
|
rs757356178
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)
|
rs104894572
|
0.00001
|
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp)
|
rs111033815
|
0.00001
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
NM_000162.5(GCK):c.107G>A (p.Arg36Gln)
|
rs193922261
|
0.00001
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
NM_000162.5(GCK):c.415A>T (p.Met139Leu)
|
rs368137186
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val)
|
rs139075692
|
0.00001
|
NM_000199.5(SGSH):c.1135del (p.Val379fs)
|
rs777956287
|
0.00001
|
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)
|
rs1424242431
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser)
|
rs779083605
|
0.00001
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)
|
rs886043347
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)
|
rs763375487
|
0.00001
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
0.00001
|
NM_000203.5(IDUA):c.90C>G (p.His30Gln)
|
rs553425887
|
0.00001
|
NM_000207.3(INS):c.1A>G (p.Met1Val)
|
rs757124361
|
0.00001
|
NM_000207.3(INS):c.25C>T (p.Pro9Ser)
|
rs372122432
|
0.00001
|
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)
|
rs777565396
|
0.00001
|
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)
|
rs121913148
|
0.00001
|
NM_000209.4(PDX1):c.216C>T (p.Pro72=)
|
rs193922353
|
0.00001
|
NM_000209.4(PDX1):c.98C>A (p.Pro33His)
|
rs767363575
|
0.00001
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)
|
rs1323850779
|
0.00001
|
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg)
|
rs760200790
|
0.00001
|
NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln)
|
rs1560035364
|
0.00001
|
NM_000340.2(SLC2A2):c.775+1G>A
|
rs756874949
|
0.00001
|
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val)
|
rs1397555319
|
0.00001
|
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg)
|
rs1304151494
|
0.00001
|
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)
|
rs767673239
|
0.00001
|
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser)
|
rs945722283
|
0.00001
|
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val)
|
rs1277952619
|
0.00001
|
NM_000343.4(SLC5A1):c.30C>T (p.Thr10=)
|
rs750528703
|
0.00001
|
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln)
|
rs373203939
|
0.00001
|
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp)
|
rs33915717
|
0.00001
|
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=)
|
rs200276021
|
0.00001
|
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter)
|
rs779502629
|
0.00001
|
NM_000343.4(SLC5A1):c.886-10T>C
|
rs201709042
|
0.00001
|
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp)
|
rs1336341879
|
0.00001
|
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=)
|
rs776713811
|
0.00001
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)
|
rs760062120
|
0.00001
|
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val)
|
rs780283224
|
0.00001
|
NM_000352.6(ABCC8):c.148+13A>C
|
rs773823246
|
0.00001
|
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val)
|
rs773345085
|
0.00001
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=)
|
rs750360514
|
0.00001
|
NM_000352.6(ABCC8):c.1630+1G>T
|
rs773306994
|
0.00001
|
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe)
|
rs1362268812
|
0.00001
|
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys)
|
rs373175144
|
0.00001
|
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val)
|
rs149400972
|
0.00001
|
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)
|
rs201682634
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=)
|
rs757507467
|
0.00001
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
0.00001
|
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys)
|
rs748585974
|
0.00001
|
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)
|
rs745591375
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)
|
rs1954592292
|
0.00001
|
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)
|
rs1387302006
|
0.00001
|
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)
|
rs769818698
|
0.00001
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr)
|
rs1320499455
|
0.00001
|
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe)
|
rs1278920115
|
0.00001
|
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)
|
rs781617345
|
0.00001
|
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=)
|
rs965734923
|
0.00001
|
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val)
|
rs748831440
|
0.00001
|
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)
|
rs755577144
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly)
|
rs374703754
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000352.6(ABCC8):c.660C>T (p.Pro220=)
|
rs773643362
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)
|
rs148529020
|
0.00001
|
NM_000352.6(ABCC8):c.894C>A (p.Arg298=)
|
rs375094504
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000404.4(GLB1):c.1480-2A>G
|
rs587776526
|
0.00001
|
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)
|
rs758168173
|
0.00001
|
NM_000404.4(GLB1):c.245+1G>A
|
rs778423653
|
0.00001
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser)
|
rs763212486
|
0.00001
|
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr)
|
rs759270956
|
0.00001
|
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile)
|
rs1199229728
|
0.00001
|
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg)
|
rs1321074352
|
0.00001
|
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)
|
rs398123430
|
0.00001
|
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)
|
rs1028668536
|
0.00001
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
0.00001
|
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)
|
rs398123439
|
0.00001
|
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr)
|
rs773283163
|
0.00001
|
NM_000512.5(GALNS):c.952A>T (p.Met318Leu)
|
rs537013895
|
0.00001
|
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)
|
rs138125678
|
0.00001
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His)
|
rs745379486
|
0.00001
|
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)
|
rs114613745
|
0.00001
|
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)
|
rs766891274
|
0.00001
|
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile)
|
rs371977895
|
0.00001
|
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=)
|
rs761588360
|
0.00001
|
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)
|
rs587783668
|
0.00001
|
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His)
|
rs1266231295
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)
|
rs772853856
|
0.00001
|
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp)
|
rs370036738
|
0.00001
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00001
|
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly)
|
rs781046464
|
0.00001
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
0.00001
|
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)
|
rs1391743259
|
0.00001
|
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)
|
rs577078110
|
0.00001
|
NM_000545.8(HNF1A):c.153C>T (p.Gly51=)
|
rs761779651
|
0.00001
|
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
NM_000545.8(HNF1A):c.685C>A (p.Arg229=)
|
rs769086289
|
0.00001
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)
|
rs765829022
|
0.00001
|
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
|
rs747958319
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu)
|
rs758882822
|
0.00001
|
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)
|
rs527819721
|
0.00001
|
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)
|
rs765367405
|
0.00001
|
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr)
|
rs372501843
|
0.00001
|
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser)
|
rs773274876
|
0.00001
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
NM_000642.3(AGL):c.2309-2A>G
|
rs1253347170
|
0.00001
|
NM_000642.3(AGL):c.248T>G (p.Leu83Arg)
|
rs560703902
|
0.00001
|
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln)
|
rs776599112
|
0.00001
|
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)
|
rs773095419
|
0.00001
|
NM_000642.3(AGL):c.276del (p.Gln92fs)
|
rs1057517243
|
0.00001
|
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp)
|
rs370787356
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys)
|
rs749163043
|
0.00001
|
NM_000642.3(AGL):c.3259+1G>A
|
rs1394576194
|
0.00001
|
NM_000642.3(AGL):c.3836+4G>A
|
rs1488570554
|
0.00001
|
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser)
|
rs766592371
|
0.00001
|
NM_000642.3(AGL):c.4379G>A (p.Arg1460His)
|
rs546855663
|
0.00001
|
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
|
rs780694207
|
0.00001
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
NM_000642.3(AGL):c.996C>A (p.His332Gln)
|
rs780811320
|
0.00001
|
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe)
|
rs750630010
|
0.00001
|
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val)
|
rs371331394
|
0.00001
|
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe)
|
rs779856198
|
0.00001
|
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser)
|
rs1261477163
|
0.00001
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His)
|
rs1555604000
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001008216.2(GALE):c.796-1G>T
|
rs779828095
|
0.00001
|
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
|
rs371922891
|
0.00001
|
NM_001040716.2(PC):c.2024G>A (p.Arg675His)
|
rs375528540
|
0.00001
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
NM_001041.4(SI):c.1057C>A (p.Leu353Ile)
|
rs539049352
|
0.00001
|
NM_001041.4(SI):c.1217A>C (p.Asn406Thr)
|
rs777261367
|
0.00001
|
NM_001041.4(SI):c.1526T>C (p.Val509Ala)
|
rs551453053
|
0.00001
|
NM_001041.4(SI):c.186A>G (p.Lys62=)
|
rs368169891
|
0.00001
|
NM_001041.4(SI):c.2338A>G (p.Met780Val)
|
rs770724135
|
0.00001
|
NM_001041.4(SI):c.2455G>A (p.Ala819Thr)
|
rs542969966
|
0.00001
|
NM_001041.4(SI):c.2862G>A (p.Lys954=)
|
rs377552984
|
0.00001
|
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter)
|
rs1000661675
|
0.00001
|
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile)
|
rs1307836828
|
0.00001
|
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile)
|
rs140725570
|
0.00001
|
NM_001041.4(SI):c.3423+3A>G
|
rs766943944
|
0.00001
|
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys)
|
rs966189337
|
0.00001
|
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala)
|
rs753519683
|
0.00001
|
NM_001041.4(SI):c.3663T>C (p.Tyr1221=)
|
rs767992819
|
0.00001
|
NM_001041.4(SI):c.4008A>G (p.Pro1336=)
|
rs747858019
|
0.00001
|
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr)
|
rs796683088
|
0.00001
|
NM_001041.4(SI):c.580G>T (p.Val194Phe)
|
rs371768147
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter)
|
rs267607136
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr)
|
rs1459705932
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys)
|
rs767963216
|
0.00001
|
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)
|
rs782753044
|
0.00001
|
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)
|
rs1043721709
|
0.00001
|
NM_001164277.2(SLC37A4):c.149-3C>T
|
rs782625122
|
0.00001
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)
|
rs946341075
|
0.00001
|
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)
|
rs863224210
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)
|
rs754982680
|
0.00001
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)
|
rs781834348
|
0.00001
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00001
|
NM_001366110.1(PAX4):c.179G>A (p.Arg60His)
|
rs370095957
|
0.00001
|
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)
|
rs587780414
|
0.00001
|
NM_001366110.1(PAX4):c.771+6C>T
|
rs377152445
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
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.1371C>T (p.Pro457=)
|
rs1356289485
|
0.00001
|
NM_002294.3(LAMP2):c.*3276C>T
|
rs1043524915
|
0.00001
|
NM_002294.3(LAMP2):c.556+13T>A
|
rs1380200946
|
0.00001
|
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn)
|
rs1271107737
|
0.00001
|
NM_002299.4(LCT):c.280G>A (p.Ala94Thr)
|
rs139740186
|
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.761A>C (p.Glu254Ala)
|
rs767219230
|
0.00001
|
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe)
|
rs766645933
|
0.00001
|
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser)
|
rs138888959
|
0.00001
|
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His)
|
rs779993355
|
0.00001
|
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)
|
rs907643541
|
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_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val)
|
rs556425857
|
0.00001
|
NM_003477.3(PDHX):c.44G>A (p.Arg15His)
|
rs387906998
|
0.00001
|
NM_003597.5(KLF11):c.-31G>A
|
rs886054721
|
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.259A>G (p.Met87Val)
|
rs757905542
|
0.00001
|
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys)
|
rs142784073
|
0.00001
|
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)
|
rs727502869
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)
|
rs370247862
|
0.00001
|
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)
|
rs199966543
|
0.00001
|
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer)
|
rs752343321
|
0.00001
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)
|
rs201815571
|
0.00001
|
NM_006516.4(SLC2A1):c.679+5G>A
|
rs771386274
|
0.00001
|
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)
|
rs375853334
|
0.00001
|
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)
|
rs119490108
|
0.00001
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)
|
rs771019056
|
0.00001
|
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys)
|
rs760782027
|
0.00001
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00001
|
NM_012203.2(GRHPR):c.735-2del
|
rs1257080057
|
0.00001
|
NM_012203.2(GRHPR):c.865+1G>T
|
rs771990662
|
0.00001
|
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)
|
rs760879406
|
0.00001
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
NM_016203.4(PRKAG2):c.187-3C>T
|
rs972389122
|
0.00001
|
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)
|
rs1041124171
|
0.00001
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)
|
rs775005432
|
0.00001
|
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)
|
rs752256415
|
0.00001
|
NM_018297.4(NGLY1):c.801T>C (p.Ser267=)
|
rs199578758
|
0.00001
|
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys)
|
rs772441887
|
0.00001
|
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)
|
rs777208958
|
0.00001
|
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser)
|
rs778696295
|
0.00001
|
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)
|
rs777601935
|
0.00001
|
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln)
|
rs796052090
|
0.00001
|
NM_138413.4(HOGA1):c.700+2T>G
|
rs990830655
|
0.00001
|
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr)
|
rs758795356
|
0.00001
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)
|
rs770462636
|
0.00001
|
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
|
rs538620581
|
0.00001
|
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)
|
rs771455190
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_175914.5(HNF4A):c.-79C>T
|
rs373143621
|
0.00001
|
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)
|
rs137853337
|
0.00001
|
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg)
|
rs757897768
|
0.00001
|
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)
|
rs780813696
|
0.00001
|
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)
|
rs377476335
|
0.00001
|
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)
|
rs771156648
|
0.00001
|
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)
|
rs1032164393
|
0.00001
|
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp)
|
rs1259110384
|
0.00001
|
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile)
|
rs753285226
|
0.00001
|
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)
|
rs145902391
|
0.00001
|
NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr)
|
rs1235291781
|
0.00001
|
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp)
|
rs758404955
|
0.00001
|
NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe)
|
rs773706712
|
0.00001
|
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
|
|
|
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
|
|
|
NM_000027.4(AGA):c.101_107del (p.Trp34fs)
|
rs759063638
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000027.4(AGA):c.281+1G>T
|
rs1553994812
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1065G>A (p.Thr355=)
|
rs143488099
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)
|
rs180177172
|
|
NM_000030.3(AGXT):c.27C>G (p.Thr9=)
|
rs180177188
|
|
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn)
|
rs180177194
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)
|
rs375712696
|
|
NM_000030.3(AGXT):c.327del (p.Gln110fs)
|
rs180177200
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)
|
rs747043550
|
|
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)
|
rs180177221
|
|
NM_000030.3(AGXT):c.483C>G (p.Gly161=)
|
rs757583201
|
|
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)
|
rs180177236
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)
|
rs180177244
|
|
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr)
|
rs1200591457
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)
|
rs139442303
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln)
|
rs371526091
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
NM_000046.5(ARSB):c.1143-8T>G
|
rs431905496
|
|
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del)
|
rs535493472
|
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
|
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)
|
rs773492223
|
|
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)
|
rs1554400769
|
|
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
|
rs80358195
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)
|
rs80356488
|
|
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)
|
rs104894571
|
|
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)
|
rs2056081719
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
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.954C>T (p.Val318=)
|
rs372612424
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|
NM_000152.5(GAA):c.*313C>G
|
rs926145648
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1437+15C>T
|
rs2143867420
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys)
|
rs1473805095
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
|
rs1598582152
|
|
NM_000152.5(GAA):c.1637-10C>T
|
rs2143881993
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg)
|
rs746401921
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser)
|
rs375681364
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
|
rs1381005435
|
|
NM_000152.5(GAA):c.2219_2220del (p.Val740fs)
|
rs2039364779
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2289G>A (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
|
rs2039369551
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.688G>C (p.Val230Leu)
|
rs145866792
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT
|
rs1555599729
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
NM_000152.5(GAA):c.956-3C>T
|
rs1421879461
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
NM_000155.4(GALT):c.203A>G (p.His68Arg)
|
rs193922247
|
|
NM_000155.4(GALT):c.508-1G>C
|
rs398123181
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)
|
rs137852888
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
|
rs1000236360
|
|
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)
|
rs1185622190
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000162.5(GCK):c.579+12C>G
|
rs202001955
|
|
NM_000162.5(GCK):c.608T>C (p.Val203Ala)
|
rs1562717053
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)
|
rs769268803
|
|
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)
|
rs104894011
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
NM_000181.4(GUSB):c.380A>G (p.His127Arg)
|
rs765699404
|
|
NM_000181.4(GUSB):c.57C>T (p.Cys19=)
|
rs573989102
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
NM_000199.5(SGSH):c.251A>G (p.His84Arg)
|
rs2144755254
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
NM_000199.5(SGSH):c.658G>A (p.Val220Met)
|
rs150508741
|
|
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
|
rs1455698449
|
|
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp)
|
rs753934983
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)
|
rs1421520718
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
|
rs1456090810
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.784del (p.His262fs)
|
rs757928590
|
|
NM_000207.3(INS):c.-152C>G
|
rs748749585
|
|
NM_000207.3(INS):c.67G>A (p.Ala23Thr)
|
rs13306444
|
|
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)
|
rs775854644
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-9_653-7delinsC
|
rs1568470641
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000209.4(PDX1):c.312C>T (p.Ala104=)
|
rs535722487
|
|
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)
|
rs779423223
|
|
NM_000262.3(NAGA):c.759+1_759+8del
|
rs768761898
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
rs2092905845
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
rs1305299665
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg)
|
rs2078257877
|
|
NM_000291.4(PGK1):c.937-17dup
|
rs782576397
|
|
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile)
|
rs2147981456
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)
|
rs34667348
|
|
NM_000298.6(PKLR):c.391_393del (p.Ile131del)
|
rs886045351
|
|
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)
|
rs72555383
|
|
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys)
|
rs1560031152
|
|
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
|
rs1447936042
|
|
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
|
rs1293130515
|
|
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His)
|
rs199573966
|
|
NM_000343.4(SLC5A1):c.1772-6G>A
|
rs201685531
|
|
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala)
|
rs200684333
|
|
NM_000343.4(SLC5A1):c.373-7del
|
rs778194598
|
|
NM_000343.4(SLC5A1):c.584-6G>A
|
rs200525887
|
|
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del)
|
rs1555965813
|
|
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val)
|
rs139037092
|
|
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg)
|
rs763028380
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu)
|
rs1955814875
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.1893del (p.Gln632fs)
|
rs2133539303
|
|
NM_000352.6(ABCC8):c.2222+15C>A
|
rs377174421
|
|
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)
|
rs766321878
|
|
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro)
|
rs761960758
|
|
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly)
|
rs761160857
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)
|
rs568576108
|
|
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)
|
rs201499958
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)
|
rs762412267
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)
|
rs770028071
|
|
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=)
|
rs775699878
|
|
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)
|
rs763104338
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)
|
rs886039301
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
NM_000352.6(ABCC8):c.413-5G>C
|
rs186946111
|
|
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=)
|
rs1250433233
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)
|
rs1953794808
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000352.6(ABCC8):c.795G>T (p.Arg265=)
|
rs1386314454
|
|
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)
|
rs751228166
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)
|
rs192732174
|
|
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)
|
rs192732174
|
|
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)
|
rs2125533127
|
|
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)
|
rs751458617
|
|
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
|
|
|
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)
|
rs2147473703
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
|
|
|
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
|
|
|
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
|
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
|
|
|
NM_000458.4(HNF1B):c.544+14T>A
|
rs759120365
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
|
|
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
|
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)
|
rs2147553451
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)
|
rs748416956
|
|
NM_000458.4(HNF1B):c.809+1G>A
|
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
NM_000458.4(HNF1B):c.831G>A (p.Gly277=)
|
rs199797518
|
|
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
|
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
|
rs746949976
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)
|
rs1440128889
|
|
NM_000525.4(KCNJ11):c.-150G>A
|
rs886048043
|
|
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)
|
rs543286136
|
|
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)
|
rs768909861
|
|
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
|
|
|
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)
|
rs761575495
|
|
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)
|
rs550315112
|
|
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=)
|
rs1489389760
|
|
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu)
|
rs967834240
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro)
|
rs139041112
|
|
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr)
|
rs1555710357
|
|
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro)
|
rs864621979
|
|
NM_000528.4(MAN2B1):c.763+2_763+8del
|
rs1057517108
|
|
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)
|
rs1054487
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
|
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)
|
rs1876675633
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)
|
rs1555212014
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)
|
rs193922606
|
|
NM_000642.3(AGL):c.-69+1G>C
|
rs1413359590
|
|
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly)
|
rs1216156102
|
|
NM_000642.3(AGL):c.1054A>G (p.Ile352Val)
|
rs1651360894
|
|
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu)
|
rs928357712
|
|
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
|
rs1045745115
|
|
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln)
|
rs758882822
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
NM_000642.3(AGL):c.2158-2A>G
|
rs878959417
|
|
NM_000642.3(AGL):c.2204A>C (p.His735Pro)
|
rs749756974
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu)
|
rs2100760670
|
|
NM_000642.3(AGL):c.2565T>C (p.His855=)
|
rs1312742910
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.2896A>T (p.Met966Leu)
|
rs772843306
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.3260-14_3260-10dup
|
rs1653309500
|
|
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)
|
rs775498547
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly)
|
rs757161555
|
|
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp)
|
rs1570514873
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
|
rs1650125542
|
|
NM_000642.3(AGL):c.460+1G>A
|
rs930434905
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
NM_000642.3(AGL):c.837C>A (p.His279Gln)
|
rs1242665410
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)
|
rs748142986
|
|
NM_000642.3(AGL):c.895T>G (p.Trp299Gly)
|
rs773101055
|
|
NM_000642.3(AGL):c.922A>G (p.Lys308Glu)
|
rs2101113540
|
|
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)
|
rs757987101
|
|
NM_000642.3(AGL):c.974C>G (p.Thr325Ser)
|
rs2101126080
|
|
NM_000891.3(KCNJ2):c.*2270G>T
|
rs545863243
|
|
NM_000891.3(KCNJ2):c.*2663T>C
|
rs886053338
|
|
NM_000891.3(KCNJ2):c.*2775dup
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.-258C>T
|
rs886053321
|
|
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg)
|
rs2144376499
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala)
|
rs201162707
|
|
NM_001008216.2(GALE):c.749del (p.Gly250fs)
|
rs1570630665
|
|
NM_001040716.2(PC):c.1513+9C>A
|
rs45580638
|
|
NM_001041.4(SI):c.119-11dup
|
rs533057264
|
|
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)
|
rs1446666305
|
|
NM_001041.4(SI):c.1506T>G (p.Leu502=)
|
rs113511967
|
|
NM_001041.4(SI):c.1567A>C (p.Asn523His)
|
rs780055379
|
|
NM_001041.4(SI):c.2025dup (p.Gly676fs)
|
rs2108219188
|
|
NM_001041.4(SI):c.2244+14G>A
|
rs114458546
|
|
NM_001041.4(SI):c.2361A>C (p.Ile787=)
|
rs116791931
|
|
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)
|
rs1221816681
|
|
NM_001041.4(SI):c.2737-11del
|
rs11452619
|
|
NM_001041.4(SI):c.2737-12_2737-11del
|
rs11452619
|
|
NM_001041.4(SI):c.2737-17_2737-11del
|
rs11452619
|
|
NM_001041.4(SI):c.2737-1G>C
|
rs1294620045
|
|
NM_001041.4(SI):c.2737-23dup
|
rs11452619
|
|
NM_001041.4(SI):c.2865C>A (p.Cys955Ter)
|
rs2108202378
|
|
NM_001041.4(SI):c.3064G>A (p.Val1022Met)
|
rs201018248
|
|
NM_001041.4(SI):c.3423+10A>G
|
rs200899300
|
|
NM_001041.4(SI):c.3634-5del
|
rs750773954
|
|
NM_001041.4(SI):c.371T>C (p.Ile124Thr)
|
rs889224862
|
|
NM_001041.4(SI):c.374-11del
|
rs11313475
|
|
NM_001041.4(SI):c.374-11dup
|
rs11313475
|
|
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)
|
rs1559990351
|
|
NM_001041.4(SI):c.4842-3G>A
|
rs112107483
|
|
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly)
|
rs150702232
|
|
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp)
|
rs760505676
|
|
NM_001041.4(SI):c.4999G>A (p.Val1667Ile)
|
rs142018224
|
|
NM_001041.4(SI):c.5198-20dup
|
rs566002300
|
|
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)
|
rs145556619
|
|
NM_001041.4(SI):c.5385G>A (p.Ser1795=)
|
rs759867192
|
|
NM_001041.4(SI):c.635+2T>C
|
rs1185991890
|
|
NM_001041.4(SI):c.636-22_636-19del
|
rs558953371
|
|
NM_001041.4(SI):c.793del (p.Gln265fs)
|
rs1714177959
|
|
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)
|
rs868289171
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)
|
rs1565686175
|
|
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)
|
rs782552989
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)
|
rs781846380
|
|
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)
|
rs1483724786
|
|
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)
|
rs193302877
|
|
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)
|
rs782083266
|
|
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)
|
rs370839177
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
|
rs538938823
|
|
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)
|
rs1176277831
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)
|
rs539911116
|
|
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)
|
rs1943553852
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
NM_001354768.3(NRL):c.-28+11215dup
|
rs61497654
|
|
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)
|
rs115887120
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala)
|
rs1553654038
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser)
|
rs760333260
|
|
NM_001715.3(BLK):c.269+13G>C
|
rs144839649
|
|
NM_001715.3(BLK):c.39G>A (p.Lys13=)
|
rs142129056
|
|
NM_001715.3(BLK):c.591G>T (p.Ser197=)
|
rs140834602
|
|
NM_001807.6(CEL):c.1659C>G (p.Thr553=)
|
rs78256304
|
|
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer)
|
rs2119070291
|
|
NM_001807.6(CEL):c.718A>G (p.Ser240Gly)
|
|
|
NM_001807.6(CEL):c.850C>G (p.Arg284Gly)
|
rs369868891
|
|
NM_001807.6(CEL):c.99G>C (p.Val33=)
|
rs199971842
|
|
NM_002103.5(GYS1):c.324C>G (p.Ile108Met)
|
rs5455
|
|
NM_002294.3(LAMP2):c.*1243A>G
|
rs147825361
|
|
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn)
|
rs1033442580
|
|
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)
|
rs1288096114
|
|
NM_002294.3(LAMP2):c.742-7_742-5del
|
rs779710402
|
|
NM_002500.5(NEUROD1):c.*1A>G
|
|
|
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val)
|
rs774325551
|
|
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu)
|
rs1013787986
|
|
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)
|
rs116321775
|
|
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln)
|
rs553756272
|
|
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=)
|
rs2105595687
|
|
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del)
|
rs1190828671
|
|
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg)
|
rs758515206
|
|
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His)
|
rs1559135426
|
|
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn)
|
rs201174472
|
|
NM_002500.5(NEUROD1):c.616C>G (p.His206Asp)
|
rs201174472
|
|
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser)
|
rs1029071008
|
|
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys)
|
rs773755753
|
|
NM_002591.4(PCK1):c.1674C>T (p.Ile558=)
|
rs115841045
|
|
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu)
|
rs2082529261
|
|
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His)
|
rs1378076282
|
|
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu)
|
rs146552221
|
|
NM_003051.4(SLC16A1):c.362-58TATT[8]
|
rs149491709
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)
|
rs1064796807
|
|
NM_003597.5(KLF11):c.1037G>T (p.Gly346Val)
|
rs964899969
|
|
NM_003597.5(KLF11):c.1050G>A (p.Pro350=)
|
rs145193520
|
|
NM_003597.5(KLF11):c.42+18C>G
|
rs1476684022
|
|
NM_003597.5(KLF11):c.870C>T (p.Ile290=)
|
rs149235463
|
|
NM_004130.4(GYG1):c.452A>T (p.His151Leu)
|
rs35054019
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005566.4(LDHA):c.470G>A (p.Arg157His)
|
rs368815124
|
|
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys)
|
rs750700202
|
|
NM_005609.4(PYGM):c.2177+1G>A
|
rs751875471
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
NM_005609.4(PYGM):c.661-5C>G
|
rs75633423
|
|
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)
|
rs374338349
|
|
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)
|
rs374338349
|
|
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)
|
rs1131691331
|
|
NM_005908.4(MANBA):c.549+1G>A
|
rs1334537145
|
|
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn)
|
rs1365012948
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006618.5(KDM5B):c.712-4del
|
rs558975598
|
|
NM_012203.2(GRHPR):c.-4_-3delinsAT
|
rs796052077
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012203.2(GRHPR):c.154del (p.Ala52fs)
|
rs751101495
|
|
NM_012203.2(GRHPR):c.214+2T>G
|
rs1057517398
|
|
NM_012203.2(GRHPR):c.286_287+1del
|
rs750079140
|
|
NM_012203.2(GRHPR):c.390C>T (p.Ile130=)
|
rs752869610
|
|
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs)
|
rs1588757756
|
|
NM_012203.2(GRHPR):c.597del (p.Phe199fs)
|
rs1057516292
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
NM_012434.5(SLC17A5):c.1112-8A>C
|
rs1581962639
|
|
NM_013276.4(SHPK):c.495-19dup
|
rs140922564
|
|
NM_014806.5(RUSC2):c.3720GGAAGA[1] (p.Glu1245_Glu1246del)
|
rs145749994
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016203.4(PRKAG2):c.1106+19del
|
rs374874465
|
|
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)
|
rs1832796232
|
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
|
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)
|
rs397517277
|
|
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
|
rs543247293
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)
|
rs77389229
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs)
|
rs762131179
|
|
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del)
|
rs780903069
|
|
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)
|
rs150382575
|
|
NM_024298.5(MBOAT7):c.-1587C>G
|
rs145947907
|
|
NM_024989.4(PGAP1):c.1273-17dup
|
rs3835877
|
|
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)
|
rs730880329
|
|
NM_053013.4(ENO3):c.789G>C (p.Ser263=)
|
rs75748087
|
|
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup)
|
rs1567672833
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138413.4(HOGA1):c.603+1G>A
|
rs2135722313
|
|
NM_138413.4(HOGA1):c.834+2T>C
|
rs947352856
|
|
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del)
|
rs750736378
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs)
|
rs759057396
|
|
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg)
|
rs1563386838
|
|
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
|
rs1803172725
|
|
NM_152419.3(HGSNAT):c.525dup (p.Val176fs)
|
rs483352895
|
|
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)
|
rs1563366828
|
|
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
|
rs727503962
|
|
NM_175914.5(HNF4A):c.*145T>A
|
rs200905283
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|
NM_175914.5(HNF4A):c.427-1G>A
|
rs1568731279
|
|
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)
|
rs368759794
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
NM_175914.5(HNF4A):c.912C>A (p.Arg304=)
|
rs760811566
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|
NM_181503.3(EXOSC8):c.55-10_55-9del
|
rs144158336
|
|
NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs)
|
rs1564568302
|
|