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
|
0.37032
|
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
|
0.12729
|
NM_000208.4(INSR):c.783C>T (p.Asp261=)
|
rs891087
|
0.11823
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06595
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04451
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03111
|
NM_000155.4(GALT):c.876G>A (p.Thr292=)
|
rs1055607
|
0.02626
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
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_053013.4(ENO3):c.-88G>A
|
rs73343373
|
0.01987
|
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)
|
rs61234887
|
0.01841
|
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly)
|
rs115690016
|
0.01755
|
NM_002591.4(PCK1):c.611-16G>A
|
rs75308972
|
0.01729
|
NM_000208.4(INSR):c.653-7del
|
rs766817873
|
0.01622
|
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_000188.3(HK1):c.1031+6T>C
|
rs57012387
|
0.01595
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01398
|
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
|
0.01241
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=)
|
rs33973317
|
0.01145
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_024989.4(PGAP1):c.860+12C>A
|
rs79169433
|
0.01022
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.00994
|
NM_001041.4(SI):c.692C>G (p.Thr231Ser)
|
rs79468450
|
0.00993
|
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_016219.5(MAN1B1):c.1932C>T (p.Val644=)
|
rs34355967
|
0.00892
|
NM_002076.4(GNS):c.1598G>A (p.Arg533His)
|
rs61743822
|
0.00879
|
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_002863.5(PYGL):c.1093-6C>A
|
rs147211684
|
0.00685
|
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)
|
rs200121704
|
0.00681
|
NM_003597.5(KLF11):c.429C>T (p.Ala143=)
|
rs113903638
|
0.00679
|
NM_000512.5(GALNS):c.1003-42C>T
|
rs139088253
|
0.00674
|
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)
|
rs143732206
|
0.00666
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00638
|
NM_000207.3(INS):c.188-16C>T
|
rs5507
|
0.00616
|
NM_002863.5(PYGL):c.2112T>C (p.Ala704=)
|
rs35110875
|
0.00616
|
NM_138501.6(TECR):c.16-15G>A
|
rs113855270
|
0.00585
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00559
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00548
|
NM_001807.6(CEL):c.1833G>C (p.Gly611=)
|
rs1211933243
|
0.00547
|
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser)
|
rs78348923
|
0.00530
|
NM_000642.3(AGL):c.*2060T>C
|
rs191429370
|
0.00522
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00516
|
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
|
0.00473
|
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile)
|
rs76033442
|
0.00462
|
NM_017755.6(NSUN2):c.510G>A (p.Leu170=)
|
rs144888290
|
0.00460
|
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_012203.2(GRHPR):c.962C>T (p.Pro321Leu)
|
rs142356700
|
0.00442
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00442
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00416
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
NM_002076.4(GNS):c.792+16A>G
|
rs148924072
|
0.00415
|
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_001040716.2(PC):c.85G>A (p.Val29Ile)
|
rs45471099
|
0.00394
|
NM_001807.6(CEL):c.402C>G (p.Gly134=)
|
rs150358550
|
0.00392
|
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)
|
rs117474773
|
0.00391
|
NM_000027.4(AGA):c.965C>T (p.Thr322Ile)
|
rs56849061
|
0.00389
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00386
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00380
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys)
|
rs35996030
|
0.00356
|
NM_004830.4(MED23):c.4080G>T (p.Val1360=)
|
rs138742804
|
0.00342
|
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_020066.5(FMN2):c.5136T>G (p.Ser1712=)
|
rs143796494
|
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
|
0.00285
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00279
|
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile)
|
rs3213608
|
0.00266
|
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser)
|
rs145151396
|
0.00263
|
NM_000207.3(INS):c.188-10G>A
|
rs41275198
|
0.00260
|
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)
|
rs79002951
|
0.00255
|
NM_000642.3(AGL):c.*832G>A
|
rs181486858
|
0.00251
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
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_001041.4(SI):c.4275A>G (p.Thr1425=)
|
rs150151075
|
0.00228
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00219
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_000352.6(ABCC8):c.2391-17G>T
|
rs201484528
|
0.00206
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00203
|
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
|
rs187556368
|
0.00201
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_000208.4(INSR):c.2682+9C>G
|
rs41398545
|
0.00197
|
NM_000642.3(AGL):c.-208C>T
|
rs563389574
|
0.00192
|
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln)
|
rs150096859
|
0.00192
|
NM_000434.4(NEU1):c.486C>T (p.Ala162=)
|
rs115588976
|
0.00189
|
NM_004130.4(GYG1):c.609G>A (p.Val203=)
|
rs75445811
|
0.00188
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00188
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00186
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00184
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00179
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00178
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00163
|
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys)
|
rs146238335
|
0.00163
|
NM_003597.5(KLF11):c.225C>T (p.Val75=)
|
rs144083374
|
0.00158
|
NM_001543.5(NDST1):c.927A>G (p.Pro309=)
|
rs137903526
|
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_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00150
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00149
|
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp)
|
rs74000629
|
0.00143
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00133
|
NM_002863.5(PYGL):c.*78G>A
|
rs190588867
|
0.00133
|
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_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00128
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00127
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00123
|
NM_001366110.1(PAX4):c.636C>T (p.Asp212=)
|
rs141407429
|
0.00122
|
NM_000162.5(GCK):c.364-18A>G
|
rs191255582
|
0.00118
|
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)
|
rs147366495
|
0.00117
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00116
|
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_000202.8(IDS):c.126C>T (p.Ile42=)
|
rs146963087
|
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
|
0.00109
|
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_001041.4(SI):c.5234T>G (p.Phe1745Cys)
|
rs79717168
|
0.00108
|
NM_001807.6(CEL):c.1716C>G (p.Pro572=)
|
rs200152972
|
0.00106
|
NM_000352.6(ABCC8):c.1924-17C>T
|
rs117189973
|
0.00105
|
NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg)
|
rs150879765
|
0.00104
|
NM_000642.3(AGL):c.*604A>G
|
rs189939228
|
0.00102
|
NM_003619.4(PRSS12):c.821-1G>A
|
rs147303693
|
0.00101
|
NM_012096.3(APPL1):c.219T>C (p.Phe73=)
|
rs150282222
|
0.00100
|
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_000030.3(AGXT):c.1023C>A (p.Asp341Glu)
|
rs144007007
|
0.00093
|
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_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu)
|
rs138795531
|
0.00086
|
NM_006516.4(SLC2A1):c.680-12C>T
|
rs150960456
|
0.00086
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00084
|
NM_000291.4(PGK1):c.390G>A (p.Gly130=)
|
rs146350576
|
0.00083
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_001366110.1(PAX4):c.69T>C (p.Pro23=)
|
rs116124047
|
0.00082
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_001366110.1(PAX4):c.144+16C>T
|
rs138902071
|
0.00080
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_012203.2(GRHPR):c.234C>T (p.Ile78=)
|
rs143337459
|
0.00080
|
NM_001807.6(CEL):c.1689A>G (p.Thr563=)
|
rs199941432
|
0.00077
|
NM_001807.6(CEL):c.1692G>T (p.Gly564=)
|
rs200716123
|
0.00077
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00076
|
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)
|
rs150764699
|
0.00076
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_000027.4(AGA):c.376C>G (p.Leu126Val)
|
rs200420067
|
0.00074
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00074
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00074
|
NM_002294.3(LAMP2):c.*1413A>G
|
rs773379092
|
0.00074
|
NM_002294.3(LAMP2):c.*3488C>T
|
rs773236667
|
0.00074
|
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_001715.3(BLK):c.1338C>G (p.Arg446=)
|
rs377160616
|
0.00072
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00072
|
NM_005883.3(APC2):c.5108C>A (p.Ala1703Glu)
|
rs200444154
|
0.00072
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_001041.4(SI):c.876C>T (p.Phe292=)
|
rs139642816
|
0.00070
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00069
|
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)
|
rs150800688
|
0.00069
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=)
|
rs200413076
|
0.00066
|
NM_002294.3(LAMP2):c.*1632A>G
|
rs755434692
|
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_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000162.5(GCK):c.46-5598A>T
|
rs13306393
|
0.00060
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)
|
rs562249191
|
0.00060
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00058
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00058
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00058
|
NM_000642.3(AGL):c.-134C>G
|
rs548243205
|
0.00057
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
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_175914.5(HNF4A):c.1032T>A (p.Ile344=)
|
rs145880201
|
0.00056
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00055
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
|
rs181879065
|
0.00054
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
NM_000507.4(FBP1):c.275C>T (p.Thr92Met)
|
rs141270413
|
0.00052
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00051
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)
|
rs115887120
|
0.00051
|
NM_005327.7(HADH):c.-115del
|
rs537335460
|
0.00051
|
NM_000642.3(AGL):c.*595A>G
|
rs763929813
|
0.00050
|
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_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)
|
rs116455504
|
0.00047
|
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser)
|
rs199610919
|
0.00046
|
NM_000030.3(AGXT):c.777-17C>A
|
rs112319664
|
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_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr)
|
rs146704780
|
0.00045
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
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_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)
|
rs180177290
|
0.00043
|
NM_001041.4(SI):c.2721T>C (p.Tyr907=)
|
rs140829463
|
0.00043
|
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)
|
rs199644216
|
0.00043
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00042
|
NM_000642.3(AGL):c.*564T>C
|
rs552782825
|
0.00042
|
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr)
|
rs564129447
|
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_001041.4(SI):c.1278+8T>G
|
rs368886500
|
0.00040
|
NM_001041.4(SI):c.885T>C (p.Phe295=)
|
rs141754766
|
0.00040
|
NM_003477.3(PDHX):c.242-17C>T
|
rs188930453
|
0.00040
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000340.2(SLC2A2):c.963+14C>T
|
rs189551647
|
0.00039
|
NM_001041.4(SI):c.4451G>A (p.Arg1484His)
|
rs145246112
|
0.00039
|
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)
|
rs782644732
|
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_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
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_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)
|
rs375754042
|
0.00038
|
NM_001807.6(CEL):c.777+7G>A
|
rs200749469
|
0.00038
|
NM_003597.5(KLF11):c.1503G>A (p.Pro501=)
|
rs36091043
|
0.00038
|
NM_021957.4(GYS2):c.1128C>T (p.Asn376=)
|
rs139043251
|
0.00038
|
NM_000030.3(AGXT):c.424-4T>C
|
rs369523966
|
0.00036
|
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)
|
rs78433961
|
0.00036
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
NM_000352.6(ABCC8):c.2390+17G>C
|
rs200705248
|
0.00035
|
NM_001041.4(SI):c.2737G>T (p.Val913Phe)
|
rs200328496
|
0.00035
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00035
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln)
|
rs141379798
|
0.00034
|
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)
|
rs142046439
|
0.00034
|
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
|
rs142008108
|
0.00034
|
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile)
|
rs149067043
|
0.00034
|
NM_000151.4(G6PC1):c.558G>T (p.Leu186=)
|
rs141376085
|
0.00033
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00033
|
NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys)
|
rs145362501
|
0.00033
|
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
|
rs369967348
|
0.00032
|
NM_001041.4(SI):c.4268-12G>C
|
rs200234624
|
0.00032
|
NM_000147.5(FUCA1):c.-44G>A
|
rs139832548
|
0.00031
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00031
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00031
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
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_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
|
rs144407534
|
0.00029
|
NM_000642.3(AGL):c.*1075T>A
|
rs886044931
|
0.00029
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00029
|
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)
|
rs200632199
|
0.00029
|
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_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu)
|
rs373902181
|
0.00028
|
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr)
|
rs143596402
|
0.00028
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
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_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
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_000352.6(ABCC8):c.1923+3G>A
|
rs374869130
|
0.00026
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
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_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln)
|
rs147182402
|
0.00026
|
NM_001807.6(CEL):c.1485-8C>T
|
rs185188893
|
0.00026
|
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)
|
rs147428514
|
0.00026
|
NM_138413.4(HOGA1):c.603+19G>A
|
rs370990433
|
0.00026
|
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
|
rs202051939
|
0.00025
|
NM_001041.4(SI):c.1587G>A (p.Pro529=)
|
rs531422962
|
0.00025
|
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn)
|
rs138461745
|
0.00025
|
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)
|
rs139661242
|
0.00025
|
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)
|
rs201287443
|
0.00025
|
NM_006765.4(TUSC3):c.1028+11T>C
|
rs187670751
|
0.00025
|
NM_000030.3(AGXT):c.243G>A (p.Ser81=)
|
rs145135990
|
0.00024
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00024
|
NM_001041.4(SI):c.2301+20T>G
|
rs576773147
|
0.00024
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00024
|
NM_001366110.1(PAX4):c.762C>T (p.Ile254=)
|
rs147670794
|
0.00024
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
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_012203.2(GRHPR):c.374G>A (p.Arg125Gln)
|
rs199560759
|
0.00024
|
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys)
|
rs199893133
|
0.00024
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_001041.4(SI):c.5384C>T (p.Ser1795Leu)
|
rs139504152
|
0.00023
|
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
|
rs202177461
|
0.00022
|
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=)
|
rs149362007
|
0.00022
|
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)
|
rs115923648
|
0.00022
|
NM_001715.3(BLK):c.368+13G>A
|
rs199644751
|
0.00022
|
NM_001715.3(BLK):c.424A>G (p.Ile142Val)
|
rs562247916
|
0.00022
|
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys)
|
rs200247956
|
0.00022
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00021
|
NM_000162.5(GCK):c.208+17G>A
|
rs199822205
|
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_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)
|
rs77131926
|
0.00021
|
NM_000642.3(AGL):c.622T>C (p.Trp208Arg)
|
rs202084554
|
0.00021
|
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val)
|
rs115159138
|
0.00021
|
NM_005566.4(LDHA):c.777G>A (p.Leu259=)
|
rs137996815
|
0.00021
|
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln)
|
rs368608057
|
0.00021
|
NM_175914.5(HNF4A):c.-79C>T
|
rs373143621
|
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_001041.4(SI):c.2828G>C (p.Cys943Ser)
|
rs375113759
|
0.00020
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00020
|
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=)
|
rs143991162
|
0.00019
|
NM_000151.4(G6PC1):c.81G>C (p.Gln27His)
|
rs371611000
|
0.00019
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
NM_000207.3(INS):c.-153C>G
|
rs915076855
|
0.00019
|
NM_000207.3(INS):c.17G>A (p.Arg6His)
|
rs121908259
|
0.00019
|
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser)
|
rs141412905
|
0.00019
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00019
|
NM_000642.3(AGL):c.*1224C>T
|
rs12563807
|
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_001366110.1(PAX4):c.345G>A (p.Gln115=)
|
rs115157546
|
0.00019
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00019
|
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr)
|
rs201630144
|
0.00019
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00018
|
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln)
|
rs145390070
|
0.00018
|
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=)
|
rs5408
|
0.00018
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00018
|
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
|
rs151165725
|
0.00018
|
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)
|
rs143987049
|
0.00018
|
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)
|
rs140481863
|
0.00018
|
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)
|
rs371426683
|
0.00018
|
NM_001807.6(CEL):c.1677T>C (p.Pro559=)
|
rs527908529
|
0.00018
|
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln)
|
rs146389992
|
0.00018
|
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys)
|
rs765844107
|
0.00018
|
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp)
|
rs142835989
|
0.00018
|
NM_031229.4(RBCK1):c.-9C>A
|
rs140276089
|
0.00018
|
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
|
rs372961495
|
0.00018
|
NM_175914.5(HNF4A):c.724G>A (p.Val242Met)
|
rs139779712
|
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_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00017
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00017
|
NM_000642.3(AGL):c.*2160C>T
|
rs753401733
|
0.00017
|
NM_001041.4(SI):c.2343T>C (p.Tyr781=)
|
rs539868642
|
0.00017
|
NM_001041.4(SI):c.5108+16A>G
|
rs149803140
|
0.00017
|
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr)
|
rs140508520
|
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_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
|
rs147798914
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr)
|
rs375443860
|
0.00016
|
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)
|
rs187532711
|
0.00016
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
NM_003597.5(KLF11):c.992G>T (p.Gly331Val)
|
rs151317435
|
0.00016
|
NM_005566.4(LDHA):c.558T>C (p.His186=)
|
rs570034363
|
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_012203.2(GRHPR):c.343G>A (p.Ala115Thr)
|
rs113602485
|
0.00016
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
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
|
NC_000012.12:g.120978511A>G
|
rs756136537
|
0.00015
|
NM_000027.4(AGA):c.793C>T (p.Arg265Cys)
|
rs146710132
|
0.00015
|
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_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
|
rs201800716
|
0.00015
|
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)
|
rs753397171
|
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_001807.6(CEL):c.472G>A (p.Val158Met)
|
rs190538939
|
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_005566.4(LDHA):c.-24-10C>G
|
rs200267888
|
0.00015
|
NM_005566.4(LDHA):c.594G>C (p.Val198=)
|
rs373534867
|
0.00015
|
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr)
|
rs573292460
|
0.00015
|
NM_138413.4(HOGA1):c.395C>T (p.Ala132Val)
|
rs200236086
|
0.00015
|
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_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
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.4076G>A (p.Arg1359His)
|
rs201533636
|
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.4251T>G (p.Tyr1417Ter)
|
rs142090504
|
0.00014
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00014
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
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_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_001041.4(SI):c.325G>A (p.Val109Ile)
|
rs149498200
|
0.00013
|
NM_001041.4(SI):c.4540+4A>G
|
rs201654919
|
0.00013
|
NM_001041.4(SI):c.5109-15A>C
|
rs371915462
|
0.00013
|
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=)
|
rs147643871
|
0.00013
|
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)
|
rs147542645
|
0.00013
|
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr)
|
rs201834329
|
0.00013
|
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)
|
rs121918419
|
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_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
|
rs147453689
|
0.00012
|
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)
|
rs72555366
|
0.00012
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00012
|
NM_001041.4(SI):c.2599T>C (p.Tyr867His)
|
rs140230726
|
0.00012
|
NM_001041.4(SI):c.4849G>C (p.Asp1617His)
|
rs202225928
|
0.00012
|
NM_001041.4(SI):c.749G>A (p.Arg250His)
|
rs530009542
|
0.00012
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00012
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00012
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00012
|
NM_001715.3(BLK):c.859G>A (p.Val287Met)
|
rs1042687
|
0.00012
|
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)
|
rs121918404
|
0.00012
|
NM_138413.4(HOGA1):c.541G>C (p.Asp181His)
|
rs148621526
|
0.00012
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
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_000162.5(GCK):c.649G>A (p.Asp217Asn)
|
rs147065275
|
0.00011
|
NM_000162.5(GCK):c.9C>T (p.Asp3=)
|
rs142553382
|
0.00011
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000202.8(IDS):c.103+7C>T
|
rs369735286
|
0.00011
|
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)
|
rs137852785
|
0.00011
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00011
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
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.302C>A (p.Ala101Asp)
|
rs1014454531
|
0.00011
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
NM_001041.4(SI):c.4133T>G (p.Ile1378Ser)
|
rs148831941
|
0.00011
|
NM_001041.4(SI):c.5C>A (p.Ala2Glu)
|
rs201612742
|
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_003041.4(SLC5A2):c.1145T>C (p.Met382Thr)
|
rs141627694
|
0.00011
|
NM_003477.3(PDHX):c.44G>A (p.Arg15His)
|
rs387906998
|
0.00011
|
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly)
|
rs201792575
|
0.00011
|
NM_005566.4(LDHA):c.445A>G (p.Lys149Glu)
|
rs145506651
|
0.00011
|
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
|
rs201389731
|
0.00011
|
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu)
|
rs372851103
|
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_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr)
|
rs201543957
|
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_000030.3(AGXT):c.763G>A (p.Asp255Asn)
|
rs547633289
|
0.00010
|
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_000154.2(GALK1):c.766C>T (p.Arg256Trp)
|
rs376790302
|
0.00010
|
NM_000209.4(PDX1):c.664G>A (p.Glu222Lys)
|
rs368507502
|
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_000343.4(SLC5A1):c.1556C>T (p.Thr519Met)
|
rs33975915
|
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.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00010
|
NM_000925.4(PDHB):c.10G>A (p.Val4Met)
|
rs201470762
|
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_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
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.1558C>T (p.Arg520Cys)
|
rs200481790
|
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_138413.4(HOGA1):c.934G>A (p.Ala312Thr)
|
rs115431683
|
0.00010
|
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser)
|
rs375647920
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
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_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.2017G>A (p.Asp673Asn)
|
rs777986828
|
0.00009
|
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=)
|
rs368134766
|
0.00009
|
NM_000458.4(HNF1B):c.1534+11G>A
|
rs373875820
|
0.00009
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
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_000525.4(KCNJ11):c.941G>A (p.Arg314His)
|
rs145935651
|
0.00009
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00009
|
NM_000642.3(AGL):c.*1691A>G
|
rs886044933
|
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_001160372.4(TRAPPC9):c.136G>A (p.Val46Met)
|
rs201233141
|
0.00009
|
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
|
rs370839177
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
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_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
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_003041.4(SLC5A2):c.506del (p.Ala169fs)
|
rs768095044
|
0.00009
|
NM_005566.4(LDHA):c.854A>T (p.Asp285Val)
|
rs147520495
|
0.00009
|
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp)
|
rs531748591
|
0.00009
|
NM_005609.4(PYGM):c.1403+5G>A
|
rs373040789
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser)
|
rs115690781
|
0.00009
|
NM_005908.4(MANBA):c.683C>T (p.Ala228Val)
|
rs767233763
|
0.00009
|
NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr)
|
rs369444528
|
0.00009
|
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)
|
rs369950120
|
0.00009
|
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
|
rs554114742
|
0.00009
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
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.546+6C>T
|
rs375727055
|
0.00008
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000308.4(CTSA):c.920G>A (p.Arg307His)
|
rs199808601
|
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.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
NM_000352.6(ABCC8):c.765C>T (p.Ile255=)
|
rs753335564
|
0.00008
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met)
|
rs770375846
|
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_000545.8(HNF1A):c.-62C>G
|
rs753567412
|
0.00008
|
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)
|
rs558217174
|
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_001041.4(SI):c.4203T>G (p.Phe1401Leu)
|
rs574552408
|
0.00008
|
NM_001041.4(SI):c.5252C>T (p.Thr1751Ile)
|
rs377361477
|
0.00008
|
NM_001041.4(SI):c.8G>T (p.Arg3Ile)
|
rs766454276
|
0.00008
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
NM_002076.4(GNS):c.*3dup
|
rs766104697
|
0.00008
|
NM_003041.4(SLC5A2):c.500del (p.Gln167fs)
|
rs267607067
|
0.00008
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00008
|
NM_005609.4(PYGM):c.1919G>A (p.Arg640His)
|
rs141267088
|
0.00008
|
NM_012203.2(GRHPR):c.357A>G (p.Leu119=)
|
rs186922220
|
0.00008
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00008
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)
|
rs991104525
|
0.00007
|
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)
|
rs202134230
|
0.00007
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00007
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
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_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
0.00007
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00007
|
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)
|
rs200921389
|
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_000291.4(PGK1):c.129T>C (p.Ala43=)
|
rs781822299
|
0.00007
|
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)
|
rs371296953
|
0.00007
|
NM_000293.3(PHKB):c.1127-2A>G
|
rs535749057
|
0.00007
|
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)
|
rs149244943
|
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.2422C>A (p.Gln808Lys)
|
rs202189540
|
0.00007
|
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)
|
rs781480098
|
0.00007
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00007
|
NM_000458.4(HNF1B):c.1534+10C>T
|
rs368168569
|
0.00007
|
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)
|
rs779375959
|
0.00007
|
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)
|
rs770791374
|
0.00007
|
NM_000545.8(HNF1A):c.341G>A (p.Arg114His)
|
rs139016696
|
0.00007
|
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys)
|
rs199660743
|
0.00007
|
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg)
|
rs149914040
|
0.00007
|
NM_000642.3(AGL):c.846+8T>A
|
rs372517543
|
0.00007
|
NM_001041.4(SI):c.1147-6T>A
|
rs146539849
|
0.00007
|
NM_001041.4(SI):c.1438C>A (p.Pro480Thr)
|
rs752986538
|
0.00007
|
NM_001041.4(SI):c.3424-10C>T
|
rs367683519
|
0.00007
|
NM_001041.4(SI):c.355A>T (p.Met119Leu)
|
rs746151218
|
0.00007
|
NM_001041.4(SI):c.4000-18A>G
|
rs764830211
|
0.00007
|
NM_001041.4(SI):c.4008A>G (p.Pro1336=)
|
rs747858019
|
0.00007
|
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala)
|
rs758043919
|
0.00007
|
NM_001041.4(SI):c.4500C>T (p.Asp1500=)
|
rs553547580
|
0.00007
|
NM_001041.4(SI):c.5049A>G (p.Leu1683=)
|
rs199658617
|
0.00007
|
NM_001041.4(SI):c.5198-7T>C
|
rs200924086
|
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_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00007
|
NM_001366110.1(PAX4):c.572G>A (p.Arg191His)
|
rs145284016
|
0.00007
|
NM_001715.3(BLK):c.675G>A (p.Pro225=)
|
rs761122806
|
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_002500.5(NEUROD1):c.34G>C (p.Gly12Arg)
|
rs556400603
|
0.00007
|
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile)
|
rs755299574
|
0.00007
|
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu)
|
rs145588324
|
0.00007
|
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro)
|
rs776725808
|
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.146C>A (p.Pro49Gln)
|
rs368649966
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln)
|
rs372295369
|
0.00007
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00007
|
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)
|
rs774654020
|
0.00007
|
NM_012203.2(GRHPR):c.180C>T (p.Ser60=)
|
rs139689525
|
0.00007
|
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala)
|
rs573439155
|
0.00007
|
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
|
rs374866581
|
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_024298.5(MBOAT7):c.754G>A (p.Ala252Thr)
|
rs766679693
|
0.00007
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
NM_000030.3(AGXT):c.214A>C (p.Asn72His)
|
rs754637713
|
0.00006
|
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys)
|
rs376844297
|
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_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
|
rs369472089
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
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.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
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_000340.2(SLC2A2):c.914T>C (p.Leu305Pro)
|
rs938526894
|
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.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
NM_000352.6(ABCC8):c.647G>A (p.Arg216His)
|
rs199702708
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
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.601C>T (p.Arg201Cys)
|
rs72555360
|
0.00006
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)
|
rs758749160
|
0.00006
|
NM_000525.4(KCNJ11):c.344A>G (p.His115Arg)
|
rs374334444
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00006
|
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)
|
rs376279459
|
0.00006
|
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile)
|
rs146855738
|
0.00006
|
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met)
|
rs568123980
|
0.00006
|
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser)
|
rs180768312
|
0.00006
|
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg)
|
rs773044002
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_000642.3(AGL):c.767G>A (p.Arg256His)
|
rs200180652
|
0.00006
|
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)
|
rs542486536
|
0.00006
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_001041.4(SI):c.1219G>A (p.Gly407Arg)
|
rs559599846
|
0.00006
|
NM_001041.4(SI):c.3099G>A (p.Lys1033=)
|
rs201844171
|
0.00006
|
NM_001041.4(SI):c.4873T>G (p.Phe1625Val)
|
rs149414344
|
0.00006
|
NM_001041.4(SI):c.748C>T (p.Arg250Cys)
|
rs200745562
|
0.00006
|
NM_001041.4(SI):c.826G>A (p.Gly276Ser)
|
rs371801531
|
0.00006
|
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)
|
rs782025581
|
0.00006
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00006
|
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu)
|
rs774976739
|
0.00006
|
NM_001807.6(CEL):c.1412C>T (p.Thr471Met)
|
rs199524286
|
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.*1A>G
|
rs148104444
|
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_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
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_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_016203.4(PRKAG2):c.-397G>C
|
rs886062106
|
0.00006
|
NM_017721.5(CC2D1A):c.61-2A>G
|
rs200450636
|
0.00006
|
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=)
|
rs201470953
|
0.00006
|
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)
|
rs770050262
|
0.00006
|
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)
|
rs761054871
|
0.00006
|
NM_175914.5(HNF4A):c.1063+120G>A
|
rs145360792
|
0.00006
|
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)
|
rs202073574
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)
|
rs764196059
|
0.00006
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
NM_000030.3(AGXT):c.1002C>T (p.Asp334=)
|
rs370897272
|
0.00005
|
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_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00005
|
NM_000030.3(AGXT):c.887C>T (p.Ala296Val)
|
rs147109132
|
0.00005
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
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.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00005
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
NM_000152.5(GAA):c.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00005
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00005
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00005
|
NM_000155.4(GALT):c.611G>A (p.Arg204Gln)
|
rs111033740
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu)
|
rs570170198
|
0.00005
|
NM_000202.8(IDS):c.753C>T (p.Pro251=)
|
rs782051908
|
0.00005
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00005
|
NM_000209.4(PDX1):c.284C>A (p.Pro95Gln)
|
rs375009107
|
0.00005
|
NM_000262.3(NAGA):c.324+1G>A
|
rs140673721
|
0.00005
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
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_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)
|
rs778051353
|
0.00005
|
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)
|
rs138299462
|
0.00005
|
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn)
|
rs137854544
|
0.00005
|
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr)
|
rs776435170
|
0.00005
|
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val)
|
rs201216997
|
0.00005
|
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys)
|
rs200308405
|
0.00005
|
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr)
|
rs202189110
|
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.1457G>A (p.Arg486Gln)
|
rs376080397
|
0.00005
|
NM_000352.6(ABCC8):c.1555C>T (p.Arg519Cys)
|
rs1057467571
|
0.00005
|
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)
|
rs376206979
|
0.00005
|
NM_000352.6(ABCC8):c.2870G>A (p.Arg957His)
|
rs775921458
|
0.00005
|
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=)
|
rs556416269
|
0.00005
|
NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly)
|
rs538013271
|
0.00005
|
NM_000352.6(ABCC8):c.298G>A (p.Glu100Lys)
|
rs200687571
|
0.00005
|
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser)
|
rs1057517139
|
0.00005
|
NM_000352.6(ABCC8):c.984G>T (p.Gly328=)
|
rs751181213
|
0.00005
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
0.00005
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00005
|
NM_000404.4(GLB1):c.602G>A (p.Arg201His)
|
rs189115557
|
0.00005
|
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
|
rs544890850
|
0.00005
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
rs536638039
|
0.00005
|
NM_000528.4(MAN2B1):c.2046+2T>A
|
rs748712495
|
0.00005
|
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr)
|
rs201811844
|
0.00005
|
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)
|
rs140878602
|
0.00005
|
NM_001040716.2(PC):c.561C>T (p.Tyr187=)
|
rs145333590
|
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.2369A>G (p.His790Arg)
|
rs149382090
|
0.00005
|
NM_001041.4(SI):c.2380G>A (p.Gly794Ser)
|
rs138778317
|
0.00005
|
NM_001041.4(SI):c.3827A>G (p.Gln1276Arg)
|
rs775422246
|
0.00005
|
NM_001041.4(SI):c.4000-15T>A
|
rs201336234
|
0.00005
|
NM_001041.4(SI):c.4000G>A (p.Val1334Ile)
|
rs961160800
|
0.00005
|
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)
|
rs199881454
|
0.00005
|
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)
|
rs537115620
|
0.00005
|
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)
|
rs782475284
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00005
|
NM_001807.6(CEL):c.73G>A (p.Ala25Thr)
|
rs779607772
|
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_002863.5(PYGL):c.280C>T (p.Arg94Ter)
|
rs113993973
|
0.00005
|
NM_003041.4(SLC5A2):c.178C>T (p.Arg60Cys)
|
rs201586410
|
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_005566.4(LDHA):c.269A>G (p.Lys90Arg)
|
rs200332813
|
0.00005
|
NM_005609.4(PYGM):c.1546C>T (p.Leu516=)
|
rs767703629
|
0.00005
|
NM_005609.4(PYGM):c.193G>A (p.Val65Met)
|
rs149658961
|
0.00005
|
NM_005609.4(PYGM):c.2178-1G>A
|
rs143670942
|
0.00005
|
NM_005609.4(PYGM):c.660+17G>A
|
rs767910783
|
0.00005
|
NM_005609.4(PYGM):c.855+4C>T
|
rs199834605
|
0.00005
|
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val)
|
rs141947405
|
0.00005
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00005
|
NM_012203.2(GRHPR):c.342C>T (p.Leu114=)
|
rs374108537
|
0.00005
|
NM_012434.5(SLC17A5):c.1260-2A>C
|
rs144074675
|
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_138413.4(HOGA1):c.764G>A (p.Arg255Gln)
|
rs201145417
|
0.00005
|
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)
|
rs367741588
|
0.00005
|
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly)
|
rs773104757
|
0.00005
|
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)
|
rs371557531
|
0.00005
|
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)
|
rs747928745
|
0.00005
|
NM_175914.5(HNF4A):c.670+7C>T
|
rs376544046
|
0.00005
|
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)
|
rs140143857
|
0.00005
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
NM_000030.3(AGXT):c.484G>A (p.Val162Met)
|
rs147497484
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser)
|
rs180177260
|
0.00004
|
NM_000035.4(ALDOB):c.379+1G>T
|
rs138121153
|
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_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.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
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_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)
|
rs111033750
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
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_000181.4(GUSB):c.1856C>T (p.Ala619Val)
|
rs121918172
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)
|
rs121434533
|
0.00004
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
NM_000291.4(PGK1):c.116+8C>T
|
rs369581587
|
0.00004
|
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser)
|
rs781839243
|
0.00004
|
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=)
|
rs371899639
|
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_000343.4(SLC5A1):c.593C>T (p.Ala198Val)
|
rs142137533
|
0.00004
|
NM_000352.6(ABCC8):c.1270G>A (p.Asp424Asn)
|
rs577545383
|
0.00004
|
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=)
|
rs112488640
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000352.6(ABCC8):c.2222+15C>A
|
rs377174421
|
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.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.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)
|
rs763184657
|
0.00004
|
NM_000512.5(GALNS):c.715G>A (p.Val239Ile)
|
rs145131011
|
0.00004
|
NM_000525.4(KCNJ11):c.86G>A (p.Arg29His)
|
rs988002138
|
0.00004
|
NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
|
rs193922583
|
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.1933A>G (p.Thr645Ala)
|
rs576969969
|
0.00004
|
NM_000642.3(AGL):c.2357C>T (p.Thr786Met)
|
rs147586981
|
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.3890T>G (p.Leu1297Trp)
|
rs749445010
|
0.00004
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)
|
rs200676705
|
0.00004
|
NM_001041.4(SI):c.1887+8A>C
|
rs372410648
|
0.00004
|
NM_001041.4(SI):c.2891C>T (p.Thr964Met)
|
rs369115304
|
0.00004
|
NM_001041.4(SI):c.3521A>T (p.Asp1174Val)
|
rs750344760
|
0.00004
|
NM_001041.4(SI):c.373+1G>A
|
rs772671498
|
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.807+8A>G
|
rs759240554
|
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.556C>T (p.Leu186Phe)
|
rs538938823
|
0.00004
|
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)
|
rs141105181
|
0.00004
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
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.1301A>G (p.Tyr434Cys)
|
rs397514345
|
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_001807.6(CEL):c.874G>T (p.Val292Leu)
|
rs868527871
|
0.00004
|
NM_002076.4(GNS):c.415A>G (p.Met139Val)
|
rs142588770
|
0.00004
|
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)
|
rs367919986
|
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.175G>C (p.Glu59Gln)
|
rs553756272
|
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_002500.5(NEUROD1):c.86C>G (p.Ser29Cys)
|
rs138850469
|
0.00004
|
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser)
|
rs368727469
|
0.00004
|
NM_003041.4(SLC5A2):c.1280+1G>A
|
rs554372141
|
0.00004
|
NM_003041.4(SLC5A2):c.1816C>T (p.Leu606Phe)
|
rs200862764
|
0.00004
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00004
|
NM_005327.7(HADH):c.262-2A>G
|
rs138521550
|
0.00004
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
NM_005566.4(LDHA):c.951G>A (p.Lys317=)
|
rs145889467
|
0.00004
|
NM_005609.4(PYGM):c.1075C>T (p.Arg359Trp)
|
rs761807664
|
0.00004
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)
|
rs758175735
|
0.00004
|
NM_005609.4(PYGM):c.1905G>A (p.Pro635=)
|
rs759582306
|
0.00004
|
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu)
|
rs777736319
|
0.00004
|
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys)
|
rs757292296
|
0.00004
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00004
|
NM_005609.4(PYGM):c.929G>A (p.Arg310His)
|
rs759130375
|
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_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
|
rs555461560
|
0.00004
|
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile)
|
rs540645365
|
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_016203.4(PRKAG2):c.617C>T (p.Pro206Leu)
|
rs182084936
|
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_175914.5(HNF4A):c.358T>C (p.Ser120Pro)
|
rs780342162
|
0.00004
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
NM_213606.4(SLC16A12):c.253G>A (p.Ala85Thr)
|
rs551632763
|
0.00004
|
NM_213606.4(SLC16A12):c.407C>T (p.Thr136Met)
|
rs190323395
|
0.00004
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg)
|
rs180177173
|
0.00003
|
NM_000030.3(AGXT):c.423+12G>A
|
rs574091775
|
0.00003
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00003
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
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_000046.5(ARSB):c.1178A>C (p.His393Pro)
|
rs118203944
|
0.00003
|
NM_000108.5(DLD):c.1081A>G (p.Met361Val)
|
rs121964993
|
0.00003
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
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.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00003
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00003
|
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
|
rs752735168
|
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.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
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_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)
|
rs111033693
|
0.00003
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00003
|
NM_000155.4(GALT):c.777G>A (p.Arg259=)
|
rs111033761
|
0.00003
|
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)
|
rs762945205
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00003
|
NM_000162.5(GCK):c.142G>A (p.Glu48Lys)
|
rs759514960
|
0.00003
|
NM_000162.5(GCK):c.301G>A (p.Val101Met)
|
rs762922697
|
0.00003
|
NM_000162.5(GCK):c.646G>A (p.Glu216Lys)
|
rs778550411
|
0.00003
|
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)
|
rs765983374
|
0.00003
|
NM_000181.4(GUSB):c.57C>T (p.Cys19=)
|
rs573989102
|
0.00003
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00003
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00003
|
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)
|
rs1421520718
|
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_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00003
|
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)
|
rs372934646
|
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_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00003
|
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
|
rs376545731
|
0.00003
|
NM_000291.4(PGK1):c.736A>G (p.Lys246Glu)
|
rs144399762
|
0.00003
|
NM_000308.4(CTSA):c.-17G>A
|
rs372800409
|
0.00003
|
NM_000308.4(CTSA):c.497del (p.Glu166fs)
|
rs1159382283
|
0.00003
|
NM_000308.4(CTSA):c.967G>A (p.Asp323Asn)
|
rs778145197
|
0.00003
|
NM_000340.2(SLC2A2):c.109-19A>G
|
rs182772346
|
0.00003
|
NM_000340.2(SLC2A2):c.529G>A (p.Gly177Ser)
|
rs144822218
|
0.00003
|
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)
|
rs202166715
|
0.00003
|
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln)
|
rs200352654
|
0.00003
|
NM_000343.4(SLC5A1):c.475T>C (p.Ser159Pro)
|
rs933026071
|
0.00003
|
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)
|
rs771392416
|
0.00003
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)
|
rs761748692
|
0.00003
|
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)
|
rs191697443
|
0.00003
|
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln)
|
rs549910824
|
0.00003
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)
|
rs750240747
|
0.00003
|
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)
|
rs766068851
|
0.00003
|
NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln)
|
rs765913448
|
0.00003
|
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)
|
rs769818698
|
0.00003
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
0.00003
|
NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)
|
rs745948796
|
0.00003
|
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val)
|
rs368450282
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00003
|
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
|
rs1272388614
|
0.00003
|
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)
|
rs771106160
|
0.00003
|
NM_000352.6(ABCC8):c.480C>T (p.His160=)
|
rs769858502
|
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.823C>T (p.Arg275Trp)
|
rs201907204
|
0.00003
|
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
|
rs751228166
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)
|
rs398123351
|
0.00003
|
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)
|
rs72555370
|
0.00003
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00003
|
NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser)
|
rs763212486
|
0.00003
|
NM_000458.4(HNF1B):c.1033A>G (p.Asn345Asp)
|
rs755951130
|
0.00003
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
0.00003
|
NM_000458.4(HNF1B):c.953A>G (p.Tyr318Cys)
|
rs752340487
|
0.00003
|
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)
|
rs141171091
|
0.00003
|
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr)
|
rs372585484
|
0.00003
|
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)
|
rs200374326
|
0.00003
|
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)
|
rs779257235
|
0.00003
|
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)
|
rs149239881
|
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.655G>T (p.Val219Leu)
|
rs371633969
|
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.1107+6T>C
|
rs771536348
|
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.236A>T (p.Glu79Val)
|
rs143753579
|
0.00003
|
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met)
|
rs150513055
|
0.00003
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)
|
rs527819721
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly)
|
rs374531404
|
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.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000642.3(AGL):c.966G>A (p.Arg322=)
|
rs199905460
|
0.00003
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001041.4(SI):c.1301G>A (p.Arg434Gln)
|
rs777219527
|
0.00003
|
NM_001041.4(SI):c.1391T>C (p.Ile464Thr)
|
rs781165527
|
0.00003
|
NM_001041.4(SI):c.1762C>T (p.Arg588Cys)
|
rs201583834
|
0.00003
|
NM_001041.4(SI):c.1837G>T (p.Glu613Ter)
|
rs201055347
|
0.00003
|
NM_001041.4(SI):c.186A>G (p.Lys62=)
|
rs368169891
|
0.00003
|
NM_001041.4(SI):c.1943G>A (p.Arg648Lys)
|
rs375458342
|
0.00003
|
NM_001041.4(SI):c.1969C>T (p.Pro657Ser)
|
rs140611221
|
0.00003
|
NM_001041.4(SI):c.2159+11C>T
|
rs761959886
|
0.00003
|
NM_001041.4(SI):c.2566-11A>G
|
rs747570138
|
0.00003
|
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala)
|
rs768100667
|
0.00003
|
NM_001041.4(SI):c.3254+14T>G
|
rs938714371
|
0.00003
|
NM_001041.4(SI):c.375A>G (p.Gly125=)
|
rs960922254
|
0.00003
|
NM_001041.4(SI):c.3955G>A (p.Val1319Ile)
|
rs376972966
|
0.00003
|
NM_001041.4(SI):c.3977C>T (p.Thr1326Ile)
|
rs1334719838
|
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.453A>G (p.Gln151=)
|
rs374104171
|
0.00003
|
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)
|
rs200328403
|
0.00003
|
NM_001041.4(SI):c.4958A>G (p.Asn1653Ser)
|
rs370421935
|
0.00003
|
NM_001041.4(SI):c.695G>A (p.Arg232His)
|
rs747345955
|
0.00003
|
NM_001041.4(SI):c.877G>A (p.Gly293Ser)
|
rs756366998
|
0.00003
|
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys)
|
rs913893905
|
0.00003
|
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)
|
rs782500443
|
0.00003
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)
|
rs377180238
|
0.00003
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00003
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00003
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00003
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)
|
rs1004027979
|
0.00003
|
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)
|
rs371116229
|
0.00003
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
NM_001715.3(BLK):c.1089G>A (p.Ala363=)
|
rs55836779
|
0.00003
|
NM_001715.3(BLK):c.27G>A (p.Pro9=)
|
rs536630306
|
0.00003
|
NM_001715.3(BLK):c.67T>C (p.Trp23Arg)
|
rs574731221
|
0.00003
|
NM_001807.6(CEL):c.400G>A (p.Gly134Ser)
|
rs377284693
|
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_002500.5(NEUROD1):c.1050C>G (p.Leu350=)
|
rs778703927
|
0.00003
|
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys)
|
rs113993984
|
0.00003
|
NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val)
|
rs199521654
|
0.00003
|
NM_003041.4(SLC5A2):c.1646C>T (p.Ala549Val)
|
rs375773920
|
0.00003
|
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala)
|
rs753477563
|
0.00003
|
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu)
|
rs564249983
|
0.00003
|
NM_003041.4(SLC5A2):c.407G>A (p.Arg136His)
|
rs564929531
|
0.00003
|
NM_003041.4(SLC5A2):c.758G>A (p.Ser253Asn)
|
rs368706190
|
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.431T>C (p.Val144Ala)
|
rs753049849
|
0.00003
|
NM_003619.4(PRSS12):c.874C>T (p.Arg292Trp)
|
rs746877243
|
0.00003
|
NM_004563.4(PCK2):c.424C>T (p.Arg142Ter)
|
rs746104381
|
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_005566.4(LDHA):c.52A>G (p.Thr18Ala)
|
rs199585928
|
0.00003
|
NM_005566.4(LDHA):c.810G>A (p.Val270=)
|
rs187005834
|
0.00003
|
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)
|
rs769172044
|
0.00003
|
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)
|
rs752622662
|
0.00003
|
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly)
|
rs775496411
|
0.00003
|
NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys)
|
rs775556000
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005609.4(PYGM):c.389C>T (p.Ala130Val)
|
rs200430286
|
0.00003
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00003
|
NM_005609.4(PYGM):c.593C>T (p.Thr198Met)
|
rs762354482
|
0.00003
|
NM_005609.4(PYGM):c.64G>A (p.Val22Met)
|
rs140731551
|
0.00003
|
NM_005609.4(PYGM):c.833G>A (p.Arg278His)
|
rs775556109
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_005908.4(MANBA):c.1704+1G>T
|
rs767174204
|
0.00003
|
NM_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
0.00003
|
NM_012203.2(GRHPR):c.745G>A (p.Val249Ile)
|
rs769568097
|
0.00003
|
NM_012203.2(GRHPR):c.85T>C (p.Cys29Arg)
|
rs749935481
|
0.00003
|
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)
|
rs180177323
|
0.00003
|
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)
|
rs374771372
|
0.00003
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
0.00003
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)
|
rs767950372
|
0.00003
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00003
|
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter)
|
rs528583612
|
0.00003
|
NM_138413.4(HOGA1):c.269T>A (p.Leu90His)
|
rs373226228
|
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_152419.3(HGSNAT):c.995A>G (p.Asn332Ser)
|
rs374892647
|
0.00003
|
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=)
|
rs751892618
|
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.1185G>A (p.Met395Ile)
|
rs550287415
|
0.00003
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
NM_175914.5(HNF4A):c.657C>T (p.Asp219=)
|
rs376586083
|
0.00003
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
NM_213606.4(SLC16A12):c.1398G>A (p.Met466Ile)
|
rs769057139
|
0.00003
|
NM_213606.4(SLC16A12):c.512G>A (p.Arg171Gln)
|
rs141521467
|
0.00003
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
NM_000030.3(AGXT):c.1130C>T (p.Thr377Met)
|
rs765649468
|
0.00002
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)
|
rs180177238
|
0.00002
|
NM_000030.3(AGXT):c.846+5A>G
|
rs200916936
|
0.00002
|
NM_000046.5(ARSB):c.1143-1G>C
|
rs431905495
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)
|
rs1255777033
|
0.00002
|
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)
|
rs118204450
|
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.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
|
rs121907942
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00002
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
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.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00002
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
NM_000162.5(GCK):c.10G>A (p.Asp4Asn)
|
rs202091228
|
0.00002
|
NM_000162.5(GCK):c.343A>G (p.Met115Val)
|
rs771677681
|
0.00002
|
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
|
rs762419802
|
0.00002
|
NM_000162.5(GCK):c.483+3G>A
|
rs1311596702
|
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_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)
|
rs780239925
|
0.00002
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00002
|
NM_000199.5(SGSH):c.250-2A>G
|
rs745319635
|
0.00002
|
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)
|
rs104894642
|
0.00002
|
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)
|
rs950667822
|
0.00002
|
NM_000207.3(INS):c.266G>A (p.Arg89His)
|
rs28933985
|
0.00002
|
NM_000208.4(INSR):c.2121C>T (p.Gly707=)
|
rs753257847
|
0.00002
|
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln)
|
rs1357043267
|
0.00002
|
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala)
|
rs1380564366
|
0.00002
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000291.4(PGK1):c.441A>G (p.Ile147Met)
|
rs375971289
|
0.00002
|
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala)
|
rs782119990
|
0.00002
|
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp)
|
rs201238498
|
0.00002
|
NM_000291.4(PGK1):c.988C>T (p.Arg330Trp)
|
rs782819714
|
0.00002
|
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)
|
rs201953584
|
0.00002
|
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)
|
rs771878314
|
0.00002
|
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)
|
rs121909742
|
0.00002
|
NM_000340.2(SLC2A2):c.1570G>A (p.Val524Met)
|
rs758607933
|
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.1128T>C (p.Asn376=)
|
rs201834537
|
0.00002
|
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr)
|
rs199872460
|
0.00002
|
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)
|
rs767673239
|
0.00002
|
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)
|
rs777391124
|
0.00002
|
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val)
|
rs200026740
|
0.00002
|
NM_000352.6(ABCC8):c.148+13A>C
|
rs773823246
|
0.00002
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
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.2164C>T (p.Leu722Phe)
|
rs773899806
|
0.00002
|
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)
|
rs201682634
|
0.00002
|
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
|
rs1331539684
|
0.00002
|
NM_000352.6(ABCC8):c.2434G>A (p.Asp812Asn)
|
rs146916682
|
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.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile)
|
rs771882862
|
0.00002
|
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His)
|
rs1057523131
|
0.00002
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
|
rs377686759
|
0.00002
|
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)
|
rs1345535328
|
0.00002
|
NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr)
|
rs767409085
|
0.00002
|
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)
|
rs750165947
|
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.146G>A (p.Arg49His)
|
rs780523881
|
0.00002
|
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)
|
rs748830051
|
0.00002
|
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)
|
rs781658798
|
0.00002
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
rs193922483
|
0.00002
|
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)
|
rs375625110
|
0.00002
|
NM_000458.4(HNF1B):c.516C>T (p.Tyr172=)
|
rs764561297
|
0.00002
|
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
|
rs776195231
|
0.00002
|
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr)
|
rs761415487
|
0.00002
|
NM_000512.5(GALNS):c.1157G>A (p.Arg386His)
|
rs1221167717
|
0.00002
|
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)
|
rs398123429
|
0.00002
|
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu)
|
rs542835085
|
0.00002
|
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs)
|
rs1468285336
|
0.00002
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
NM_000525.4(KCNJ11):c.1096G>A (p.Gly366Arg)
|
rs149141985
|
0.00002
|
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)
|
rs1001873841
|
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.1501T>A (p.Cys501Ser)
|
rs747721968
|
0.00002
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00002
|
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)
|
rs864621993
|
0.00002
|
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)
|
rs768233248
|
0.00002
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val)
|
rs924150546
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
|
rs193922589
|
0.00002
|
NM_000545.8(HNF1A):c.1774T>C (p.Ser592Pro)
|
rs1352126690
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00002
|
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
|
rs747958319
|
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_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
|
rs780517804
|
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_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.1995C>T (p.Asp665=)
|
rs757380218
|
0.00002
|
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro)
|
rs121912611
|
0.00002
|
NM_001041.4(SI):c.3423+10A>G
|
rs200899300
|
0.00002
|
NM_001041.4(SI):c.3888+12G>A
|
rs766861562
|
0.00002
|
NM_001041.4(SI):c.4505A>G (p.Tyr1502Cys)
|
rs1382587818
|
0.00002
|
NM_001041.4(SI):c.4575+2T>C
|
rs754961413
|
0.00002
|
NM_001041.4(SI):c.5320G>A (p.Val1774Ile)
|
rs771335037
|
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.952G>A (p.Gly318Ser)
|
rs749095854
|
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.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001366110.1(PAX4):c.134G>A (p.Arg45Gln)
|
rs147279315
|
0.00002
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
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_002500.5(NEUROD1):c.357G>A (p.Ala119=)
|
rs375774931
|
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.389G>A (p.Arg130His)
|
rs886051960
|
0.00002
|
NM_003041.4(SLC5A2):c.982A>G (p.Met328Val)
|
rs779233034
|
0.00002
|
NM_003477.3(PDHX):c.520G>A (p.Glu174Lys)
|
rs774065524
|
0.00002
|
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln)
|
rs368207952
|
0.00002
|
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp)
|
rs754920304
|
0.00002
|
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs)
|
rs757141803
|
0.00002
|
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)
|
rs954192338
|
0.00002
|
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys)
|
rs781394907
|
0.00002
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)
|
rs769805782
|
0.00002
|
NM_005609.4(PYGM):c.1545C>T (p.Asp515=)
|
rs1229595545
|
0.00002
|
NM_005609.4(PYGM):c.178G>A (p.Val60Met)
|
rs765962705
|
0.00002
|
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)
|
rs114073621
|
0.00002
|
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)
|
rs768604948
|
0.00002
|
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys)
|
rs984250045
|
0.00002
|
NM_005609.4(PYGM):c.345+2T>A
|
rs1219299972
|
0.00002
|
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)
|
rs753533515
|
0.00002
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
NM_005908.4(MANBA):c.2158-2A>G
|
rs772852668
|
0.00002
|
NM_005908.4(MANBA):c.550-1G>A
|
rs760404534
|
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.526G>A (p.Gly176Ser)
|
rs377374419
|
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_012203.2(GRHPR):c.808G>A (p.Val270Met)
|
rs765478360
|
0.00002
|
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe)
|
rs985998169
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
|
rs142050507
|
0.00002
|
NM_014704.4(CEP104):c.895C>T (p.Arg299Ter)
|
rs778850368
|
0.00002
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
0.00002
|
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)
|
rs752256415
|
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.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg)
|
rs778171847
|
0.00002
|
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr)
|
rs758795356
|
0.00002
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
|
rs377050184
|
0.00002
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)
|
rs199796094
|
0.00002
|
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly)
|
rs201777208
|
0.00002
|
NC_000011.10:g.17476966G>C
|
rs1395224084
|
0.00001
|
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)
|
rs386833421
|
0.00001
|
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
|
rs1736926873
|
0.00001
|
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_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)
|
rs758493460
|
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.1084G>A (p.Gly362Ser)
|
rs569643246
|
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.265G>A (p.Ala89Thr)
|
rs369184209
|
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.302T>C (p.Leu101Pro)
|
rs180177195
|
0.00001
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)
|
rs180177210
|
0.00001
|
NM_000030.3(AGXT):c.375G>C (p.Pro125=)
|
rs754716643
|
0.00001
|
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro)
|
rs180177230
|
0.00001
|
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)
|
rs536205988
|
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.752G>A (p.Trp251Ter)
|
rs786204545
|
0.00001
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
NM_000030.3(AGXT):c.846+1G>T
|
rs180177281
|
0.00001
|
NM_000030.3(AGXT):c.942+1G>A
|
rs180177297
|
0.00001
|
NM_000030.3(AGXT):c.981C>T (p.Pro327=)
|
rs760409952
|
0.00001
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
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.2T>C (p.Met1Thr)
|
rs1270747182
|
0.00001
|
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val)
|
rs755508323
|
0.00001
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)
|
rs1064793027
|
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.275C>T (p.Thr92Met)
|
rs751010538
|
0.00001
|
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)
|
rs371886102
|
0.00001
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)
|
rs121964988
|
0.00001
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
NM_000108.5(DLD):c.684+1G>T
|
rs780025714
|
0.00001
|
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter)
|
rs997047045
|
0.00001
|
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
|
rs774846977
|
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.509G>A (p.Arg170Gln)
|
rs750470654
|
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.804C>T (p.Leu268=)
|
rs377077333
|
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.1064T>C (p.Leu355Pro)
|
rs766074609
|
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.1123C>T (p.Arg375Cys)
|
rs372486238
|
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.1327-2A>G
|
rs1410829147
|
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.1418G>C (p.Gly473Ala)
|
rs886043976
|
0.00001
|
NM_000152.5(GAA):c.1437+15C>T
|
rs2143867420
|
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.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
0.00001
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00001
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
NM_000152.5(GAA):c.1754+1G>A
|
rs886043399
|
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.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
0.00001
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
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.2174G>A (p.Arg725Gln)
|
rs577042191
|
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.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
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.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
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.460C>T (p.Arg154Cys)
|
rs539841659
|
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.568C>T (p.Arg190Cys)
|
rs771258854
|
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.671G>A (p.Arg224Gln)
|
rs200210219
|
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.858G>A (p.Thr286=)
|
rs201056962
|
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.106G>C (p.Gly36Arg)
|
rs1214866139
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000154.2(GALK1):c.611+1G>T
|
rs982043960
|
0.00001
|
NM_000154.2(GALK1):c.793+1G>T
|
rs767790909
|
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.241G>C (p.Ala81Pro)
|
rs111033665
|
0.00001
|
NM_000155.4(GALT):c.329-2A>C
|
rs111033667
|
0.00001
|
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)
|
rs111033675
|
0.00001
|
NM_000155.4(GALT):c.396C>A (p.His132Gln)
|
rs367543256
|
0.00001
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
NM_000155.4(GALT):c.562C>T (p.Gln188Ter)
|
rs398123182
|
0.00001
|
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)
|
rs1554709359
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)
|
rs886058900
|
0.00001
|
NM_000158.4(GBE1):c.1803+2T>C
|
rs539203557
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
|
rs1209123501
|
0.00001
|
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
|
rs137852887
|
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.270G>A (p.Lys90=)
|
rs571528578
|
0.00001
|
NM_000162.5(GCK):c.415A>T (p.Met139Leu)
|
rs368137186
|
0.00001
|
NM_000162.5(GCK):c.46-3C>T
|
rs1413094138
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000162.5(GCK):c.609G>A (p.Val203=)
|
rs776703291
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000162.5(GCK):c.716A>G (p.Gln239Arg)
|
rs764146649
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)
|
rs1434169374
|
0.00001
|
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)
|
rs1210475838
|
0.00001
|
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)
|
rs1250112198
|
0.00001
|
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)
|
rs121918176
|
0.00001
|
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)
|
rs121918184
|
0.00001
|
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter)
|
rs1053785648
|
0.00001
|
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
|
rs769769379
|
0.00001
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
|
rs764866250
|
0.00001
|
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val)
|
rs139075692
|
0.00001
|
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)
|
rs1459579613
|
0.00001
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
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.1429G>A (p.Asp477Asn)
|
rs1064795109
|
0.00001
|
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser)
|
rs779083605
|
0.00001
|
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)
|
rs1488660868
|
0.00001
|
NM_000199.5(SGSH):c.376dup (p.Val126fs)
|
rs1555621971
|
0.00001
|
NM_000199.5(SGSH):c.391G>A (p.Val131Met)
|
rs370636303
|
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_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)
|
rs762903007
|
0.00001
|
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
|
rs754949360
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
|
rs752725918
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.1602del (p.Leu535fs)
|
rs1553917566
|
0.00001
|
NM_000203.5(IDUA):c.1828+1G>C
|
rs919151683
|
0.00001
|
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)
|
rs886043347
|
0.00001
|
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs)
|
rs1292032609
|
0.00001
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
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.*59A>G
|
rs397515519
|
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_000208.4(INSR):c.3158G>A (p.Arg1053His)
|
rs748109926
|
0.00001
|
NM_000209.4(PDX1):c.216C>T (p.Pro72=)
|
rs193922353
|
0.00001
|
NM_000209.4(PDX1):c.463C>A (p.Arg155Ser)
|
rs773643850
|
0.00001
|
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly)
|
rs193922360
|
0.00001
|
NM_000209.4(PDX1):c.98C>A (p.Pro33His)
|
rs767363575
|
0.00001
|
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)
|
rs775099024
|
0.00001
|
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
|
rs771151036
|
0.00001
|
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)
|
rs1183634153
|
0.00001
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
|
rs2092909477
|
0.00001
|
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)
|
rs1323850779
|
0.00001
|
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter)
|
rs1279412522
|
0.00001
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)
|
rs118204025
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
NM_000289.6(PFKM):c.1413-2A>G
|
rs1430517061
|
0.00001
|
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
|
rs2498573232
|
0.00001
|
NM_000289.6(PFKM):c.1876_1880+2del
|
rs2498640077
|
0.00001
|
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
|
rs138893744
|
0.00001
|
NM_000291.4(PGK1):c.40G>C (p.Val14Leu)
|
rs782483245
|
0.00001
|
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)
|
rs185071030
|
0.00001
|
NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)
|
rs377001714
|
0.00001
|
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)
|
rs121918022
|
0.00001
|
NM_000293.3(PHKB):c.76+2T>C
|
rs1303617854
|
0.00001
|
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)
|
rs375063162
|
0.00001
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp)
|
rs760257918
|
0.00001
|
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)
|
rs560414449
|
0.00001
|
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
|
rs774652817
|
0.00001
|
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter)
|
rs200565348
|
0.00001
|
NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn)
|
rs750782646
|
0.00001
|
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg)
|
rs760200790
|
0.00001
|
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr)
|
rs1373290524
|
0.00001
|
NM_000340.2(SLC2A2):c.195T>A (p.Asp65Glu)
|
rs1217666649
|
0.00001
|
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
|
rs1293130515
|
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.1127A>G (p.Asn376Ser)
|
rs779179648
|
0.00001
|
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg)
|
rs1304151494
|
0.00001
|
NM_000343.4(SLC5A1):c.1301T>C (p.Ile434Thr)
|
rs202090647
|
0.00001
|
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=)
|
rs767459349
|
0.00001
|
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser)
|
rs945722283
|
0.00001
|
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys)
|
rs754586981
|
0.00001
|
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val)
|
rs1277952619
|
0.00001
|
NM_000343.4(SLC5A1):c.200G>A (p.Trp67Ter)
|
rs1203557575
|
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.770C>T (p.Thr257Ile)
|
rs777779839
|
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.1176+2T>C
|
rs750586210
|
0.00001
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
0.00001
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
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.1508T>C (p.Leu503Pro)
|
rs1554933168
|
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.1616A>G (p.Tyr539Cys)
|
rs193922397
|
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.1687G>A (p.Val563Ile)
|
rs1554926621
|
0.00001
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00001
|
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)
|
rs377405677
|
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.2030G>A (p.Cys677Tyr)
|
rs770262664
|
0.00001
|
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)
|
rs779017346
|
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.2270C>G (p.Thr757Arg)
|
rs757961130
|
0.00001
|
NM_000352.6(ABCC8):c.2305G>A (p.Val769Met)
|
rs767419912
|
0.00001
|
NM_000352.6(ABCC8):c.2403C>A (p.Val801=)
|
rs148863748
|
0.00001
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
0.00001
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
0.00001
|
NM_000352.6(ABCC8):c.2694+1G>A
|
rs774574576
|
0.00001
|
NM_000352.6(ABCC8):c.2751G>A (p.Gln917=)
|
rs769982482
|
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.2921-9G>A
|
rs757171524
|
0.00001
|
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)
|
rs1254230359
|
0.00001
|
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)
|
rs1387302006
|
0.00001
|
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)
|
rs767123465
|
0.00001
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
0.00001
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
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.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
0.00001
|
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)
|
rs781617345
|
0.00001
|
NM_000352.6(ABCC8):c.3868-1G>A
|
rs766431403
|
0.00001
|
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)
|
rs763104338
|
0.00001
|
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
|
rs745417115
|
0.00001
|
NM_000352.6(ABCC8):c.3988+2T>C
|
rs745349258
|
0.00001
|
NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn)
|
rs1199684247
|
0.00001
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)
|
rs773448052
|
0.00001
|
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
|
rs776610373
|
0.00001
|
NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val)
|
rs913334458
|
0.00001
|
NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr)
|
rs975338030
|
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.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)
|
rs769989185
|
0.00001
|
NM_000352.6(ABCC8):c.4569G>A (p.Val1523=)
|
rs1953753838
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)
|
rs763809892
|
0.00001
|
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)
|
rs756823374
|
0.00001
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
0.00001
|
NM_000352.6(ABCC8):c.660C>T (p.Pro220=)
|
rs773643362
|
0.00001
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
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.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
NM_000352.6(ABCC8):c.822+7G>A
|
rs765890511
|
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_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00001
|
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)
|
rs72555372
|
0.00001
|
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)
|
rs748345527
|
0.00001
|
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)
|
rs2125469895
|
0.00001
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00001
|
NM_000404.4(GLB1):c.1438A>G (p.Met480Val)
|
rs1280400930
|
0.00001
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
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.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe)
|
rs1699791081
|
0.00001
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
NM_000404.4(GLB1):c.699del (p.Gln234fs)
|
rs1452318343
|
0.00001
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00001
|
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg)
|
rs368568171
|
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.191C>G (p.Thr64Ser)
|
rs750176807
|
0.00001
|
NM_000458.4(HNF1B):c.231C>G (p.Asp77Glu)
|
rs760448993
|
0.00001
|
NM_000458.4(HNF1B):c.305A>C (p.Glu102Ala)
|
rs982165538
|
0.00001
|
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
|
rs1285239018
|
0.00001
|
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg)
|
rs1321074352
|
0.00001
|
NM_000458.4(HNF1B):c.66C>A (p.Thr22=)
|
rs906719754
|
0.00001
|
NM_000458.4(HNF1B):c.78G>T (p.Leu26=)
|
rs757790704
|
0.00001
|
NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe)
|
rs763078496
|
0.00001
|
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)
|
rs398123430
|
0.00001
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
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.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
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.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
|
rs772413313
|
0.00001
|
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)
|
rs770239604
|
0.00001
|
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)
|
rs753051547
|
0.00001
|
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)
|
rs1199639828
|
0.00001
|
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr)
|
rs773283163
|
0.00001
|
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
|
rs764070268
|
0.00001
|
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)
|
rs758439379
|
0.00001
|
NM_000512.5(GALNS):c.952A>T (p.Met318Leu)
|
rs537013895
|
0.00001
|
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)
|
rs746756997
|
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.154C>T (p.Gln52Ter)
|
rs879253757
|
0.00001
|
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)
|
rs766891274
|
0.00001
|
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)
|
rs1479483693
|
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.61C>A (p.Pro21Thr)
|
rs1393796559
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val)
|
rs754683593
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00001
|
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro)
|
rs864621992
|
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.1645-1G>A
|
rs938576591
|
0.00001
|
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly)
|
rs781046464
|
0.00001
|
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)
|
rs199700264
|
0.00001
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)
|
rs864621991
|
0.00001
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys)
|
rs765088432
|
0.00001
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000545.8(HNF1A):c.1030G>A (p.Val344Met)
|
rs767616383
|
0.00001
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
0.00001
|
NM_000545.8(HNF1A):c.1309+16T>C
|
rs1877124452
|
0.00001
|
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
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.1537A>T (p.Thr513Ser)
|
rs753702603
|
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.1769T>C (p.Val590Ala)
|
rs928744634
|
0.00001
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
NM_000545.8(HNF1A):c.181C>T (p.Pro61Ser)
|
rs1251482432
|
0.00001
|
NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg)
|
rs1877445147
|
0.00001
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)
|
rs774996577
|
0.00001
|
NM_000545.8(HNF1A):c.354G>A (p.Met118Ile)
|
rs764191958
|
0.00001
|
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)
|
rs1876675633
|
0.00001
|
NM_000545.8(HNF1A):c.542G>C (p.Gly181Ala)
|
rs773315874
|
0.00001
|
NM_000545.8(HNF1A):c.685C>A (p.Arg229=)
|
rs769086289
|
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.901G>A (p.Ala301Thr)
|
rs555681479
|
0.00001
|
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)
|
rs757574765
|
0.00001
|
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val)
|
rs369764257
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
|
rs1045745115
|
0.00001
|
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu)
|
rs758882822
|
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.887T>G (p.Leu296Arg)
|
rs748142986
|
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_001008216.2(GALE):c.101A>G (p.Asn34Ser)
|
rs121908046
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp)
|
rs764909409
|
0.00001
|
NM_001008216.2(GALE):c.668T>C (p.Leu223Pro)
|
rs1457875051
|
0.00001
|
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)
|
rs137853860
|
0.00001
|
NM_001008216.2(GALE):c.796-1G>T
|
rs779828095
|
0.00001
|
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)
|
rs137853861
|
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.3034A>G (p.Met1012Val)
|
rs1030212351
|
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.1169A>G (p.Asp390Gly)
|
rs1481268075
|
0.00001
|
NM_001041.4(SI):c.1217A>C (p.Asn406Thr)
|
rs777261367
|
0.00001
|
NM_001041.4(SI):c.126T>G (p.Ser42Arg)
|
rs768538979
|
0.00001
|
NM_001041.4(SI):c.1356G>A (p.Val452=)
|
rs1453717899
|
0.00001
|
NM_001041.4(SI):c.1526T>C (p.Val509Ala)
|
rs551453053
|
0.00001
|
NM_001041.4(SI):c.1669G>A (p.Asp557Asn)
|
rs1185540606
|
0.00001
|
NM_001041.4(SI):c.1897G>A (p.Asp633Asn)
|
rs753216085
|
0.00001
|
NM_001041.4(SI):c.2005-11C>T
|
rs1487909793
|
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.2479A>G (p.Lys827Glu)
|
rs1712533082
|
0.00001
|
NM_001041.4(SI):c.2798A>G (p.Gln933Arg)
|
rs773762538
|
0.00001
|
NM_001041.4(SI):c.2862G>A (p.Lys954=)
|
rs377552984
|
0.00001
|
NM_001041.4(SI):c.2894G>A (p.Gly965Asp)
|
rs144419320
|
0.00001
|
NM_001041.4(SI):c.2900C>T (p.Ser967Phe)
|
rs1431852303
|
0.00001
|
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)
|
rs756776020
|
0.00001
|
NM_001041.4(SI):c.3056G>A (p.Arg1019His)
|
rs562524905
|
0.00001
|
NM_001041.4(SI):c.315G>T (p.Trp105Cys)
|
rs138564183
|
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.3404C>T (p.Thr1135Ile)
|
rs1412604560
|
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.3521-1G>T
|
rs757893762
|
0.00001
|
NM_001041.4(SI):c.3532C>T (p.Gln1178Ter)
|
rs898055093
|
0.00001
|
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala)
|
rs753519683
|
0.00001
|
NM_001041.4(SI):c.3562G>A (p.Val1188Ile)
|
rs372654793
|
0.00001
|
NM_001041.4(SI):c.3616A>G (p.Thr1206Ala)
|
rs763245932
|
0.00001
|
NM_001041.4(SI):c.3663T>C (p.Tyr1221=)
|
rs767992819
|
0.00001
|
NM_001041.4(SI):c.3843T>G (p.Phe1281Leu)
|
rs778183835
|
0.00001
|
NM_001041.4(SI):c.3896C>A (p.Ala1299Glu)
|
rs1559990008
|
0.00001
|
NM_001041.4(SI):c.4087C>T (p.Pro1363Ser)
|
rs1576882468
|
0.00001
|
NM_001041.4(SI):c.4199G>A (p.Ser1400Asn)
|
rs753033212
|
0.00001
|
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr)
|
rs796683088
|
0.00001
|
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile)
|
rs376437234
|
0.00001
|
NM_001041.4(SI):c.4543A>G (p.Met1515Val)
|
rs1301172097
|
0.00001
|
NM_001041.4(SI):c.5248-2A>C
|
rs1298467427
|
0.00001
|
NM_001041.4(SI):c.5266A>G (p.Ile1756Val)
|
rs535971512
|
0.00001
|
NM_001041.4(SI):c.5267T>C (p.Ile1756Thr)
|
rs751083701
|
0.00001
|
NM_001041.4(SI):c.580G>T (p.Val194Phe)
|
rs371768147
|
0.00001
|
NM_001041.4(SI):c.832C>T (p.Gln278Ter)
|
rs754468827
|
0.00001
|
NM_001041.4(SI):c.917T>G (p.Ile306Ser)
|
rs369903847
|
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.149G>A (p.Gly50Glu)
|
rs193302877
|
0.00001
|
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)
|
rs782083266
|
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_001352514.2(HLCS):c.1289del (p.Ser430fs)
|
rs898964693
|
0.00001
|
NM_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
0.00001
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00001
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
0.00001
|
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)
|
rs764148793
|
0.00001
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
|
rs782205676
|
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.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)
|
rs397514402
|
0.00001
|
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
|
rs397514420
|
0.00001
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
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_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
|
rs1303877451
|
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_001715.3(BLK):c.164A>G (p.His55Arg)
|
rs202053568
|
0.00001
|
NM_001807.6(CEL):c.1624T>C (p.Trp542Arg)
|
rs1441466735
|
0.00001
|
NM_001807.6(CEL):c.2165C>T (p.Ala722Val)
|
rs774058715
|
0.00001
|
NM_001807.6(CEL):c.883G>T (p.Ala295Ser)
|
rs765533068
|
0.00001
|
NM_002076.4(GNS):c.355del (p.Ser119fs)
|
rs749187018
|
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.1043C>T (p.Ala348Val)
|
rs771797718
|
0.00001
|
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp)
|
rs774325551
|
0.00001
|
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu)
|
rs1013787986
|
0.00001
|
NM_002500.5(NEUROD1):c.36C>T (p.Gly12=)
|
rs753690348
|
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.554C>T (p.Ala185Val)
|
rs375030401
|
0.00001
|
NM_002500.5(NEUROD1):c.61A>G (p.Ser21Gly)
|
rs898716677
|
0.00001
|
NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala)
|
rs767219230
|
0.00001
|
NM_002500.5(NEUROD1):c.766T>C (p.Phe256Leu)
|
rs556602572
|
0.00001
|
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe)
|
rs766645933
|
0.00001
|
NM_002500.5(NEUROD1):c.814C>A (p.Pro272Thr)
|
rs1365446719
|
0.00001
|
NM_002500.5(NEUROD1):c.931G>A (p.Ala311Thr)
|
rs1475260624
|
0.00001
|
NM_002500.5(NEUROD1):c.93C>A (p.Asp31Glu)
|
rs1688642769
|
0.00001
|
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)
|
rs1556327000
|
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.1031C>T (p.Ala344Val)
|
rs766548165
|
0.00001
|
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)
|
rs907643541
|
0.00001
|
NM_003041.4(SLC5A2):c.1399G>A (p.Val467Met)
|
rs200184876
|
0.00001
|
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr)
|
rs775638719
|
0.00001
|
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn)
|
rs762905275
|
0.00001
|
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs)
|
rs770214617
|
0.00001
|
NM_003041.4(SLC5A2):c.305C>T (p.Ala102Val)
|
rs755955053
|
0.00001
|
NM_003041.4(SLC5A2):c.484G>A (p.Gly162Arg)
|
rs767198666
|
0.00001
|
NM_003041.4(SLC5A2):c.503A>G (p.Gln168Arg)
|
rs1294044448
|
0.00001
|
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)
|
rs184887106
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003384.3(VRK1):c.6del (p.Arg3fs)
|
rs780789145
|
0.00001
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
0.00001
|
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val)
|
rs556425857
|
0.00001
|
NM_003477.3(PDHX):c.419_420del (p.His140fs)
|
rs756985515
|
0.00001
|
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu)
|
rs775364750
|
0.00001
|
NM_003597.5(KLF11):c.1117C>G (p.Pro373Ala)
|
rs1327726598
|
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_005566.4(LDHA):c.410C>A (p.Ser137Ter)
|
rs777988373
|
0.00001
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
NM_005609.4(PYGM):c.1110G>A (p.Val370=)
|
rs372719040
|
0.00001
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
NM_005609.4(PYGM):c.1239+1G>A
|
rs759657964
|
0.00001
|
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln)
|
rs750184482
|
0.00001
|
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val)
|
rs767347157
|
0.00001
|
NM_005609.4(PYGM):c.1283G>A (p.Arg428His)
|
rs767293977
|
0.00001
|
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
|
rs199728804
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1403+2dup
|
rs1489442842
|
0.00001
|
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)
|
rs1592410540
|
0.00001
|
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)
|
rs397514631
|
0.00001
|
NM_005609.4(PYGM):c.1598G>A (p.Arg533Gln)
|
rs1194180857
|
0.00001
|
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr)
|
rs746031643
|
0.00001
|
NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr)
|
rs375646075
|
0.00001
|
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe)
|
rs746276802
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.1835C>T (p.Pro612Leu)
|
rs746099017
|
0.00001
|
NM_005609.4(PYGM):c.183C>T (p.Arg61=)
|
rs1182278359
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
0.00001
|
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
|
rs1483102315
|
0.00001
|
NM_005609.4(PYGM):c.2204G>A (p.Arg735His)
|
rs760277933
|
0.00001
|
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln)
|
rs577589879
|
0.00001
|
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)
|
rs1213033233
|
0.00001
|
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)
|
rs370247862
|
0.00001
|
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile)
|
rs147571836
|
0.00001
|
NM_005609.4(PYGM):c.346-20T>G
|
rs1025560272
|
0.00001
|
NM_005609.4(PYGM):c.346-5T>G
|
rs1016613332
|
0.00001
|
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)
|
rs776680924
|
0.00001
|
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys)
|
rs749507354
|
0.00001
|
NM_005609.4(PYGM):c.704G>A (p.Arg235His)
|
rs371247639
|
0.00001
|
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
|
rs771073706
|
0.00001
|
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys)
|
rs779706675
|
0.00001
|
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)
|
rs199966543
|
0.00001
|
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
|
rs780068572
|
0.00001
|
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln)
|
rs759103361
|
0.00001
|
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer)
|
rs752343321
|
0.00001
|
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter)
|
rs1553948361
|
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.181G>A (p.Asp61Asn)
|
rs371660673
|
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.478G>A (p.Gly160Arg)
|
rs180177312
|
0.00001
|
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys)
|
rs760782027
|
0.00001
|
NM_012203.2(GRHPR):c.735-2del
|
rs1257080057
|
0.00001
|
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)
|
rs369698939
|
0.00001
|
NM_012203.2(GRHPR):c.865+1G>T
|
rs771990662
|
0.00001
|
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr)
|
rs758049256
|
0.00001
|
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)
|
rs1331106064
|
0.00001
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)
|
rs1214170788
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
|
rs1769125401
|
0.00001
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
0.00001
|
NM_012434.5(SLC17A5):c.93C>T (p.Ala31=)
|
rs1347154246
|
0.00001
|
NM_014704.4(CEP104):c.163C>T (p.Arg55Ter)
|
rs757772764
|
0.00001
|
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter)
|
rs372048855
|
0.00001
|
NM_016042.4(EXOSC3):c.475-12A>G
|
rs370087266
|
0.00001
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
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.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.1231C>T (p.Arg411Ter)
|
rs146140738
|
0.00001
|
NM_018297.4(NGLY1):c.1A>G (p.Met1Val)
|
rs772627507
|
0.00001
|
NM_018297.4(NGLY1):c.571C>T (p.Gln191Ter)
|
rs376678889
|
0.00001
|
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter)
|
rs200561967
|
0.00001
|
NM_018297.4(NGLY1):c.801T>C (p.Ser267=)
|
rs199578758
|
0.00001
|
NM_018297.4(NGLY1):c.930C>T (p.Gly310=)
|
rs745814294
|
0.00001
|
NM_031229.4(RBCK1):c.1465del (p.Thr489fs)
|
rs2122348874
|
0.00001
|
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys)
|
rs772441887
|
0.00001
|
NM_138413.4(HOGA1):c.283C>T (p.Arg95Cys)
|
rs751366895
|
0.00001
|
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)
|
rs777208958
|
0.00001
|
NM_138413.4(HOGA1):c.329C>T (p.Ser110Phe)
|
rs1307213959
|
0.00001
|
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser)
|
rs778696295
|
0.00001
|
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala)
|
rs776292240
|
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.580G>A (p.Gly194Ser)
|
rs763146679
|
0.00001
|
NM_138413.4(HOGA1):c.700+2T>G
|
rs990830655
|
0.00001
|
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile)
|
rs756489804
|
0.00001
|
NM_138413.4(HOGA1):c.845G>A (p.Arg282His)
|
rs779027672
|
0.00001
|
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr)
|
rs796052087
|
0.00001
|
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser)
|
rs777046879
|
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.1129-2A>T
|
rs749568919
|
0.00001
|
NM_152419.3(HGSNAT):c.118+1G>A
|
rs1324229618
|
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.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)
|
rs747240928
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_152419.3(HGSNAT):c.372-2A>G
|
rs483352896
|
0.00001
|
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)
|
rs1563366896
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)
|
rs372933126
|
0.00001
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
0.00001
|
NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr)
|
rs376906221
|
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.1198C>T (p.Arg400Ter)
|
rs1413742263
|
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.341G>A (p.Arg114Gln)
|
rs149611886
|
0.00001
|
NM_175914.5(HNF4A):c.468G>A (p.Ala156=)
|
rs758124162
|
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.609C>T (p.Gly203=)
|
rs751231466
|
0.00001
|
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
|
rs145542196
|
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_175914.5(HNF4A):c.862C>T (p.Arg288Trp)
|
rs768263630
|
0.00001
|
NM_175914.5(HNF4A):c.911G>A (p.Arg304His)
|
rs753027685
|
0.00001
|
NM_213606.4(SLC16A12):c.100G>A (p.Val34Ile)
|
rs750848525
|
0.00001
|
NM_213606.4(SLC16A12):c.1022A>G (p.Asp341Gly)
|
rs1254570734
|
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.1018G>T (p.Glu340Ter)
|
rs1736641565
|
|
NM_000027.4(AGA):c.101_107del (p.Trp34fs)
|
rs759063638
|
|
NM_000027.4(AGA):c.113del (p.Asn38fs)
|
|
|
NM_000027.4(AGA):c.127+1G>A
|
rs1057516565
|
|
NM_000027.4(AGA):c.131G>A (p.Trp44Ter)
|
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
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_000027.4(AGA):c.365C>A (p.Thr122Lys)
|
rs771563230
|
|
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
|
rs1736928101
|
|
NM_000027.4(AGA):c.373_376del (p.Thr125fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.385_394+15del
|
|
|
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
|
rs2476870897
|
|
NM_000027.4(AGA):c.595_596del (p.Glu199fs)
|
rs2476862496
|
|
NM_000027.4(AGA):c.80dup (p.Pro28fs)
|
|
|
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
|
rs121964905
|
|
NM_000030.3(AGXT):c.1006G>A (p.Val336Ile)
|
|
|
NM_000030.3(AGXT):c.1015G>A (p.Val339Ile)
|
|
|
NM_000030.3(AGXT):c.1033A>G (p.Ile345Val)
|
|
|
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.1072-1G>A
|
rs2528766258
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
NM_000030.3(AGXT):c.1124G>A (p.Arg375His)
|
|
|
NM_000030.3(AGXT):c.1144G>A (p.Ala382Thr)
|
|
|
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
|
rs2528766716
|
|
NM_000030.3(AGXT):c.124G>A (p.Gly42Arg)
|
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)
|
rs180177172
|
|
NM_000030.3(AGXT):c.166-3C>G
|
|
|
NM_000030.3(AGXT):c.185A>C (p.Glu62Ala)
|
|
|
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg)
|
rs180177181
|
|
NM_000030.3(AGXT):c.194A>G (p.Gln65Arg)
|
|
|
NM_000030.3(AGXT):c.216C>G (p.Asn72Lys)
|
rs202108064
|
|
NM_000030.3(AGXT):c.275A>G (p.Asn92Ser)
|
|
|
NM_000030.3(AGXT):c.27C>G (p.Thr9=)
|
rs180177188
|
|
NM_000030.3(AGXT):c.284A>T (p.Glu95Val)
|
|
|
NM_000030.3(AGXT):c.28C>A (p.Pro10Thr)
|
|
|
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn)
|
rs180177194
|
|
NM_000030.3(AGXT):c.317G>A (p.Gly106Asp)
|
|
|
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)
|
rs375712696
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys)
|
rs796052060
|
|
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.335C>A (p.Ala112Asp)
|
rs796052061
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)
|
rs747043550
|
|
NM_000030.3(AGXT):c.368T>A (p.Val123Glu)
|
|
|
NM_000030.3(AGXT):c.391G>A (p.Gly131Arg)
|
|
|
NM_000030.3(AGXT):c.395G>A (p.Gly132Asp)
|
|
|
NM_000030.3(AGXT):c.418G>A (p.Glu140Lys)
|
|
|
NM_000030.3(AGXT):c.423+1G>A
|
rs1553648493
|
|
NM_000030.3(AGXT):c.437A>G (p.His146Arg)
|
|
|
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)
|
rs180177221
|
|
NM_000030.3(AGXT):c.466G>T (p.Gly156Trp)
|
|
|
NM_000030.3(AGXT):c.467G>A (p.Gly156Glu)
|
|
|
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)
|
rs180177227
|
|
NM_000030.3(AGXT):c.483C>G (p.Gly161=)
|
rs757583201
|
|
NM_000030.3(AGXT):c.4G>A (p.Ala2Thr)
|
|
|
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn)
|
rs180177233
|
|
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)
|
rs180177236
|
|
NM_000030.3(AGXT):c.569_570dup (p.Thr191fs)
|
|
|
NM_000030.3(AGXT):c.572C>T (p.Thr191Ile)
|
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)
|
rs180177244
|
|
NM_000030.3(AGXT):c.588C>A (p.Asp196Glu)
|
|
|
NM_000030.3(AGXT):c.595+2T>C
|
|
|
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)
|
rs180177248
|
|
NM_000030.3(AGXT):c.615G>A (p.Ser205=)
|
|
|
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_000030.3(AGXT):c.680+1G>C
|
rs111996685
|
|
NM_000030.3(AGXT):c.681-1G>A
|
rs112673831
|
|
NM_000030.3(AGXT):c.701A>G (p.Lys234Arg)
|
|
|
NM_000030.3(AGXT):c.719_721del (p.Phe240del)
|
rs2528756027
|
|
NM_000030.3(AGXT):c.726G>A (p.Leu242=)
|
rs2528756053
|
|
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)
|
rs180177259
|
|
NM_000030.3(AGXT):c.761A>C (p.Asp254Ala)
|
|
|
NM_000030.3(AGXT):c.777-2A>G
|
rs796052068
|
|
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)
|
rs180177273
|
|
NM_000030.3(AGXT):c.825C>A (p.Ser275Arg)
|
|
|
NM_000030.3(AGXT):c.847-3C>T
|
rs180177286
|
|
NM_000030.3(AGXT):c.85G>A (p.Gly29Ser)
|
|
|
NM_000030.3(AGXT):c.876C>T (p.Arg292=)
|
|
|
NM_000030.3(AGXT):c.931G>A (p.Val311Met)
|
|
|
NM_000030.3(AGXT):c.941C>T (p.Pro314Leu)
|
|
|
NM_000030.3(AGXT):c.942+3A>T
|
|
|
NM_000030.3(AGXT):c.943G>A (p.Ala315Thr)
|
|
|
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln)
|
rs200317876
|
|
NM_000030.3(AGXT):c.950G>C (p.Arg317Pro)
|
|
|
NM_000030.3(AGXT):c.982G>A (p.Ala328Thr)
|
|
|
NM_000035.4(ALDOB):c.1000-1_1006delinsTG
|
rs2118333206
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.133C>T (p.Gln45Ter)
|
|
|
NM_000035.4(ALDOB):c.197_198del (p.Val66fs)
|
|
|
NM_000035.4(ALDOB):c.21_34del (p.Leu8fs)
|
|
|
NM_000035.4(ALDOB):c.322A>T (p.Lys108Ter)
|
|
|
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.367del (p.Thr123fs)
|
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.380-1G>A
|
rs1554702666
|
|
NM_000035.4(ALDOB):c.43del (p.Glu15fs)
|
rs1831209087
|
|
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
|
rs1831149748
|
|
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)
|
rs139442303
|
|
NM_000035.4(ALDOB):c.531_532del (p.Ile177fs)
|
|
|
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)
|
rs2118366288
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000035.4(ALDOB):c.799+2T>C
|
rs2118345193
|
|
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
|
|
|
NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln)
|
rs371526091
|
|
NM_000046.5(ARSB):c.1054G>A (p.Asp352Asn)
|
|
|
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro)
|
rs1554079284
|
|
NM_000046.5(ARSB):c.107_129del (p.Gly36fs)
|
|
|
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter)
|
rs1554079265
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
NM_000046.5(ARSB):c.1143-2A>T
|
|
|
NM_000046.5(ARSB):c.1143-8T>G
|
rs431905496
|
|
NM_000046.5(ARSB):c.1268C>A (p.Ser423Ter)
|
|
|
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)
|
rs774358117
|
|
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)
|
rs1554032090
|
|
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)
|
rs768802200
|
|
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
|
rs2530607480
|
|
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu)
|
rs1435155976
|
|
NM_000046.5(ARSB):c.405del (p.Ala136fs)
|
|
|
NM_000046.5(ARSB):c.500-2A>G
|
|
|
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter)
|
rs773460207
|
|
NM_000046.5(ARSB):c.791_798dup (p.Ala267fs)
|
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del)
|
rs535493472
|
|
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)
|
rs891298440
|
|
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)
|
rs773492223
|
|
NM_000108.5(DLD):c.1046+1G>T
|
|
|
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)
|
rs747810875
|
|
NM_000108.5(DLD):c.1141dup (p.Ala381fs)
|
|
|
NM_000108.5(DLD):c.1237-2A>G
|
|
|
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)
|
rs1554400769
|
|
NM_000108.5(DLD):c.198+1G>T
|
rs1554398193
|
|
NM_000108.5(DLD):c.1A>C (p.Met1Leu)
|
|
|
NM_000108.5(DLD):c.285_286del (p.His96fs)
|
rs2535575866
|
|
NM_000108.5(DLD):c.39+1G>A
|
rs111257462
|
|
NM_000108.5(DLD):c.573del (p.Gly192fs)
|
|
|
NM_000108.5(DLD):c.589G>T (p.Glu197Ter)
|
|
|
NM_000108.5(DLD):c.595dup (p.Thr199fs)
|
|
|
NM_000108.5(DLD):c.633del (p.Val212fs)
|
|
|
NM_000108.5(DLD):c.796C>T (p.Gln266Ter)
|
|
|
NM_000108.5(DLD):c.821dup (p.Leu274fs)
|
rs751883130
|
|
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
|
rs80358195
|
|
NM_000147.5(FUCA1):c.1161G>A (p.Trp387Ter)
|
|
|
NM_000147.5(FUCA1):c.360G>A (p.Trp120Ter)
|
|
|
NM_000147.5(FUCA1):c.418G>A (p.Glu140Lys)
|
|
|
NM_000147.5(FUCA1):c.524+1G>T
|
|
|
NM_000147.5(FUCA1):c.552dup (p.Leu185fs)
|
|
|
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter)
|
rs80358198
|
|
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter)
|
rs1441298926
|
|
NM_000147.5(FUCA1):c.768+1G>T
|
rs1639468949
|
|
NM_000147.5(FUCA1):c.7del (p.Ala3fs)
|
rs1639669672
|
|
NM_000147.5(FUCA1):c.837T>A (p.Cys279Ter)
|
|
|
NM_000147.5(FUCA1):c.911G>A (p.Trp304Ter)
|
|
|
NM_000147.5(FUCA1):c.932_936del (p.Ala311fs)
|
|
|
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.-32-2A>G
|
rs1445232530
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1075+1G>A
|
|
|
NM_000152.5(GAA):c.1075+1G>T
|
rs2039146031
|
|
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.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.1291_1299del (p.Leu431_Gln433del)
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
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.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
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.156_157del (p.His53fs)
|
rs1027029347
|
|
NM_000152.5(GAA):c.1579del (p.Arg527fs)
|
rs2039222879
|
|
NM_000152.5(GAA):c.1589_1598del (p.Glu530fs)
|
|
|
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.1755-1G>A
|
rs2039261208
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu)
|
rs763772240
|
|
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.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
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.1942G>T (p.Gly648Cys)
|
rs536906561
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
NM_000152.5(GAA):c.2045delinsCG (p.Gln682fs)
|
|
|
NM_000152.5(GAA):c.2047G>T (p.Glu683Ter)
|
|
|
NM_000152.5(GAA):c.2078dup (p.Ala694fs)
|
rs730880372
|
|
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>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2242del (p.Glu748fs)
|
rs777275355
|
|
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.2326C>T (p.Gln776Ter)
|
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
NM_000152.5(GAA):c.2331+1G>A
|
rs780655708
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
NM_000152.5(GAA):c.2332-1G>C
|
rs1555602832
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro)
|
rs374687883
|
|
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)
|
rs1057516704
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2553_2554delinsAT (p.Glu852Ter)
|
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2642_2643delinsC (p.Arg881fs)
|
|
|
NM_000152.5(GAA):c.2647-2A>G
|
rs2510404041
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
NM_000152.5(GAA):c.370C>T (p.Gln124Ter)
|
|
|
NM_000152.5(GAA):c.393del (p.Ser132fs)
|
rs1057517381
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
NM_000152.5(GAA):c.498_510del (p.Thr166_Leu167insTer)
|
|
|
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.546+5G>T
|
rs756024023
|
|
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.569G>T (p.Arg190Leu)
|
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.715_716del (p.Leu239fs)
|
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
NM_000152.5(GAA):c.74C>T (p.Ala25Val)
|
rs768867363
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs)
|
rs2039120342
|
|
NM_000152.5(GAA):c.844G>C (p.Asp282His)
|
rs1264889089
|
|
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.1067T>C (p.Leu356Pro)
|
|
|
NM_000154.2(GALK1):c.166-5_175del
|
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
NM_000154.2(GALK1):c.381_400dup (p.Pro134fs)
|
|
|
NM_000154.2(GALK1):c.3G>T (p.Met1Ile)
|
|
|
NM_000154.2(GALK1):c.410dup (p.Gly138fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.710del (p.Pro237fs)
|
rs773559496
|
|
NM_000154.2(GALK1):c.790del (p.Glu264fs)
|
|
|
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
NM_000154.2(GALK1):c.898dup (p.Tyr300fs)
|
|
|
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
|
|
|
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter)
|
rs111033806
|
|
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs)
|
rs2492881242
|
|
NM_000155.4(GALT):c.134C>T (p.Ser45Leu)
|
rs111033652
|
|
NM_000155.4(GALT):c.203A>G (p.His68Arg)
|
rs193922247
|
|
NM_000155.4(GALT):c.286G>C (p.Asp96His)
|
|
|
NM_000155.4(GALT):c.289_291del (p.Asn97del)
|
rs398123179
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
|
rs771702963
|
|
NM_000155.4(GALT):c.502G>T (p.Val168Leu)
|
rs367543258
|
|
NM_000155.4(GALT):c.508-1G>A
|
|
|
NM_000155.4(GALT):c.508-1G>C
|
rs398123181
|
|
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)
|
rs111033722
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.899G>A (p.Trp300Ter)
|
rs1064794295
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000158.4(GBE1):c.1244C>G (p.Ser415Ter)
|
|
|
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.1618+3_1618+6del
|
rs766366468
|
|
NM_000158.4(GBE1):c.1666A>T (p.Asn556Tyr)
|
rs937683680
|
|
NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter)
|
rs1559637815
|
|
NM_000158.4(GBE1):c.1771G>T (p.Glu591Ter)
|
|
|
NM_000158.4(GBE1):c.1782T>A (p.Tyr594Ter)
|
|
|
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)
|
rs772802187
|
|
NM_000158.4(GBE1):c.2027A>G (p.His676Arg)
|
|
|
NM_000158.4(GBE1):c.2052+1G>T
|
rs2106809795
|
|
NM_000158.4(GBE1):c.288del (p.Gly97fs)
|
rs1057517315
|
|
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)
|
rs2107114808
|
|
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter)
|
rs1553690406
|
|
NM_000158.4(GBE1):c.429+1G>T
|
|
|
NM_000158.4(GBE1):c.466_470del (p.Arg156fs)
|
rs2107074878
|
|
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)
|
rs1704706313
|
|
NM_000158.4(GBE1):c.932_933del (p.Phe311fs)
|
|
|
NM_000158.4(GBE1):c.933dup (p.His312fs)
|
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000158.4(GBE1):c.993-2A>G
|
rs1269375163
|
|
NM_000158.4(GBE1):c.995G>A (p.Trp332Ter)
|
|
|
NM_000162.5(GCK):c.*12G>A
|
|
|
NM_000162.5(GCK):c.1006T>A (p.Ser336Thr)
|
|
|
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
|
rs1000236360
|
|
NM_000162.5(GCK):c.1024A>T (p.Thr342Ser)
|
|
|
NM_000162.5(GCK):c.1045T>A (p.Tyr349Asn)
|
|
|
NM_000162.5(GCK):c.1058G>A (p.Ser353Asn)
|
|
|
NM_000162.5(GCK):c.1102C>T (p.Arg368Cys)
|
|
|
NM_000162.5(GCK):c.1142T>A (p.Met381Lys)
|
rs193922266
|
|
NM_000162.5(GCK):c.1230C>T (p.Gly410=)
|
|
|
NM_000162.5(GCK):c.1234G>A (p.Val412Met)
|
rs2484495767
|
|
NM_000162.5(GCK):c.1241A>T (p.Lys414Met)
|
|
|
NM_000162.5(GCK):c.1253+3G>T
|
rs911506580
|
|
NM_000162.5(GCK):c.1253+5G>T
|
|
|
NM_000162.5(GCK):c.1253+6C>T
|
|
|
NM_000162.5(GCK):c.1274C>A (p.Ala425Asp)
|
|
|
NM_000162.5(GCK):c.127C>T (p.Arg43Cys)
|
rs1486280029
|
|
NM_000162.5(GCK):c.12_13del (p.Asp4fs)
|
rs1483208659
|
|
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)
|
rs267601516
|
|
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.1340G>C (p.Arg447Pro)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.1368del (p.Cys457fs)
|
rs2484491553
|
|
NM_000162.5(GCK):c.184G>A (p.Val62Met)
|
rs1064793998
|
|
NM_000162.5(GCK):c.237G>A (p.Leu79=)
|
|
|
NM_000162.5(GCK):c.28G>A (p.Ala10Thr)
|
rs1265357992
|
|
NM_000162.5(GCK):c.315C>A (p.His105Gln)
|
|
|
NM_000162.5(GCK):c.364-14C>T
|
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.483+117T>C
|
|
|
NM_000162.5(GCK):c.483+13G>A
|
|
|
NM_000162.5(GCK):c.49G>C (p.Glu17Gln)
|
|
|
NM_000162.5(GCK):c.53A>G (p.Gln18Arg)
|
|
|
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.629T>C (p.Met210Thr)
|
rs80356654
|
|
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.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
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.863+1G>A
|
rs1376796469
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
NM_000162.5(GCK):c.907C>A (p.Arg303=)
|
|
|
NM_000162.5(GCK):c.917T>G (p.Leu306Arg)
|
rs193922337
|
|
NM_000162.5(GCK):c.954G>T (p.Gly318=)
|
|
|
NM_000162.5(GCK):c.988T>G (p.Phe330Val)
|
|
|
NM_000162.5(GCK):c.996_997delinsTT (p.Arg333Cys)
|
|
|
NM_000181.4(GUSB):c.1051C>T (p.His351Tyr)
|
|
|
NM_000181.4(GUSB):c.1244+2del
|
|
|
NM_000181.4(GUSB):c.12del (p.Ser5fs)
|
|
|
NM_000181.4(GUSB):c.1523A>G (p.Tyr508Cys)
|
|
|
NM_000181.4(GUSB):c.1526dup (p.His509fs)
|
|
|
NM_000181.4(GUSB):c.1623T>A (p.Tyr541Ter)
|
|
|
NM_000181.4(GUSB):c.1750_1762del (p.Glu584fs)
|
|
|
NM_000181.4(GUSB):c.1874_1877dup (p.Tyr626Ter)
|
|
|
NM_000181.4(GUSB):c.207G>A (p.Trp69Ter)
|
|
|
NM_000181.4(GUSB):c.289G>A (p.Gly97Ser)
|
|
|
NM_000181.4(GUSB):c.333G>A (p.Trp111Ter)
|
|
|
NM_000181.4(GUSB):c.380A>G (p.His127Arg)
|
rs765699404
|
|
NM_000181.4(GUSB):c.397-2A>G
|
|
|
NM_000181.4(GUSB):c.58_70del (p.Ala20fs)
|
rs1377855703
|
|
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)
|
rs2484858214
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
NM_000199.5(SGSH):c.120C>A (p.Tyr40Ter)
|
|
|
NM_000199.5(SGSH):c.1222_1225dup (p.Gln409fs)
|
|
|
NM_000199.5(SGSH):c.1414C>T (p.Gln472Ter)
|
|
|
NM_000199.5(SGSH):c.149_169del (p.Leu50_Ser57delinsArg)
|
|
|
NM_000199.5(SGSH):c.251A>G (p.His84Arg)
|
rs2144755254
|
|
NM_000199.5(SGSH):c.449G>C (p.Arg150Pro)
|
|
|
NM_000199.5(SGSH):c.453del (p.Asn151fs)
|
rs2510893832
|
|
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)
|
rs2041818115
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
NM_000199.5(SGSH):c.658G>A (p.Val220Met)
|
rs150508741
|
|
NM_000199.5(SGSH):c.670del (p.Tyr224fs)
|
rs766980170
|
|
NM_000199.5(SGSH):c.69del (p.Asn24fs)
|
|
|
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
|
rs1455698449
|
|
NM_000199.5(SGSH):c.757del (p.Val253fs)
|
rs760281672
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
NM_000199.5(SGSH):c.89-2A>G
|
rs1369704445
|
|
NM_000199.5(SGSH):c.909del (p.Lys303fs)
|
rs775136193
|
|
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp)
|
rs753934983
|
|
NM_000202.8(IDS):c.1025A>G (p.His342Arg)
|
|
|
NM_000202.8(IDS):c.1036G>A (p.Ala346Thr)
|
|
|
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro)
|
rs113993946
|
|
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs)
|
rs2089304532
|
|
NM_000202.8(IDS):c.339dup (p.Gly114fs)
|
|
|
NM_000202.8(IDS):c.358C>T (p.Pro120Ser)
|
|
|
NM_000202.8(IDS):c.613G>A (p.Ala205Thr)
|
rs864622779
|
|
NM_000203.5(IDUA):c.-4_6dup (p.Pro3fs)
|
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)
|
rs780106243
|
|
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)
|
rs368454909
|
|
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)
|
rs1230096882
|
|
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
|
rs1214495121
|
|
NM_000203.5(IDUA):c.1088G>T (p.Arg363Leu)
|
rs1416427527
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
NM_000203.5(IDUA):c.1130C>T (p.Pro377Leu)
|
|
|
NM_000203.5(IDUA):c.117_118del (p.Leu40fs)
|
|
|
NM_000203.5(IDUA):c.1190-10C>A
|
rs1443642527
|
|
NM_000203.5(IDUA):c.1190-1del
|
rs2534092221
|
|
NM_000203.5(IDUA):c.1264del (p.Ala422fs)
|
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1377del (p.Leu460fs)
|
|
|
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1402+1G>A
|
rs398123254
|
|
NM_000203.5(IDUA):c.1477_1480dup (p.Val494fs)
|
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
NM_000203.5(IDUA):c.152del (p.Gly51fs)
|
|
|
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe)
|
rs1577543849
|
|
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
|
rs727503966
|
|
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)
|
rs1553917627
|
|
NM_000203.5(IDUA):c.1727+5G>A
|
|
|
NM_000203.5(IDUA):c.1743C>A (p.Tyr581Ter)
|
|
|
NM_000203.5(IDUA):c.1815dup (p.Val606fs)
|
rs2153023210
|
|
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
|
rs2534102903
|
|
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.1898C>A (p.Ser633Ter)
|
rs886043347
|
|
NM_000203.5(IDUA):c.235_240delinsACCGTG (p.Ala79Thr)
|
|
|
NM_000203.5(IDUA):c.275G>A (p.Trp92Ter)
|
|
|
NM_000203.5(IDUA):c.299+1G>A
|
|
|
NM_000203.5(IDUA):c.2T>C (p.Met1Thr)
|
rs753767675
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
NM_000203.5(IDUA):c.494-2A>G
|
|
|
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
|
rs992336192
|
|
NM_000203.5(IDUA):c.599_608del (p.Asn200fs)
|
|
|
NM_000203.5(IDUA):c.603C>G (p.Tyr201Ter)
|
rs766574778
|
|
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.615_636delinsAACTACTACG (p.Cys205_Ala212delinsTer)
|
|
|
NM_000203.5(IDUA):c.623G>T (p.Gly208Val)
|
|
|
NM_000203.5(IDUA):c.784del (p.His262fs)
|
rs757928590
|
|
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)
|
rs2534087208
|
|
NM_000203.5(IDUA):c.864del (p.Lys289fs)
|
|
|
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)
|
rs779762183
|
|
NM_000203.5(IDUA):c.94dup (p.Val32fs)
|
|
|
NM_000207.3(INS):c.-152C>A
|
rs748749585
|
|
NM_000207.3(INS):c.-152C>G
|
rs748749585
|
|
NM_000207.3(INS):c.-152C>T
|
rs748749585
|
|
NM_000207.3(INS):c.157A>G (p.Lys53Glu)
|
|
|
NM_000207.3(INS):c.158A>C (p.Lys53Thr)
|
|
|
NM_000207.3(INS):c.170A>G (p.Glu57Gly)
|
|
|
NM_000207.3(INS):c.187+3G>A
|
|
|
NM_000207.3(INS):c.188-16C>A
|
|
|
NM_000207.3(INS):c.194A>T (p.Gln65Leu)
|
|
|
NM_000207.3(INS):c.200A>T (p.Glu67Val)
|
|
|
NM_000207.3(INS):c.208G>A (p.Gly70Arg)
|
|
|
NM_000207.3(INS):c.212G>T (p.Gly71Val)
|
|
|
NM_000207.3(INS):c.35C>T (p.Ala12Val)
|
|
|
NM_000207.3(INS):c.44C>A (p.Ala15Asp)
|
|
|
NM_000207.3(INS):c.67G>A (p.Ala23Thr)
|
rs13306444
|
|
NM_000208.4(INSR):c.1266T>C (p.Ile422=)
|
|
|
NM_000208.4(INSR):c.2107G>A (p.Glu703Lys)
|
|
|
NM_000208.4(INSR):c.2408A>G (p.Asn803Ser)
|
|
|
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)
|
rs775854644
|
|
NM_000208.4(INSR):c.359T>C (p.Leu120Pro)
|
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-9_653-7delinsC
|
rs1568470641
|
|
NM_000209.4(PDX1):c.101C>T (p.Ala34Val)
|
rs750219172
|
|
NM_000209.4(PDX1):c.124C>A (p.Pro42Thr)
|
|
|
NM_000209.4(PDX1):c.146C>G (p.Pro49Arg)
|
|
|
NM_000209.4(PDX1):c.184C>A (p.Pro62Thr)
|
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000209.4(PDX1):c.190G>A (p.Asp64Asn)
|
|
|
NM_000209.4(PDX1):c.272C>T (p.Ala91Val)
|
|
|
NM_000209.4(PDX1):c.280C>T (p.His94Tyr)
|
|
|
NM_000209.4(PDX1):c.286C>G (p.Pro96Ala)
|
|
|
NM_000209.4(PDX1):c.307G>A (p.Gly103Arg)
|
|
|
NM_000209.4(PDX1):c.312C>T (p.Ala104=)
|
rs535722487
|
|
NM_000209.4(PDX1):c.338A>G (p.Asn113Ser)
|
|
|
NM_000209.4(PDX1):c.384C>G (p.His128Gln)
|
|
|
NM_000209.4(PDX1):c.390G>T (p.Trp130Cys)
|
|
|
NM_000209.4(PDX1):c.394G>A (p.Gly132Ser)
|
|
|
NM_000209.4(PDX1):c.411C>T (p.Gly137=)
|
|
|
NM_000209.4(PDX1):c.413C>T (p.Ala138Val)
|
|
|
NM_000209.4(PDX1):c.422C>A (p.Ala141Glu)
|
|
|
NM_000209.4(PDX1):c.506A>G (p.Lys169Arg)
|
|
|
NM_000209.4(PDX1):c.545T>C (p.Met182Thr)
|
|
|
NM_000209.4(PDX1):c.546G>A (p.Met182Ile)
|
|
|
NM_000209.4(PDX1):c.563G>C (p.Arg188Thr)
|
|
|
NM_000209.4(PDX1):c.667C>T (p.Pro223Ser)
|
|
|
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
|
rs2500206807
|
|
NM_000209.4(PDX1):c.697G>A (p.Glu233Lys)
|
|
|
NM_000209.4(PDX1):c.716C>T (p.Pro239Leu)
|
|
|
NM_000209.4(PDX1):c.722del (p.Pro241fs)
|
|
|
NM_000209.4(PDX1):c.729_731delinsGCCCCG (p.Pro244_Gly245insArg)
|
|
|
NM_000209.4(PDX1):c.732dup (p.Gly245fs)
|
|
|
NM_000209.4(PDX1):c.766G>T (p.Ala256Ser)
|
|
|
NM_000209.4(PDX1):c.776del (p.Gly259fs)
|
|
|
NM_000209.4(PDX1):c.84C>G (p.Phe28Leu)
|
|
|
NM_000209.4(PDX1):c.92G>A (p.Ser31Asn)
|
rs1449072088
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
NM_000209.4(PDX1):c.97C>T (p.Pro33Ser)
|
rs192902098
|
|
NM_000262.3(NAGA):c.1101+1G>A
|
|
|
NM_000262.3(NAGA):c.1113dup (p.Tyr372fs)
|
|
|
NM_000262.3(NAGA):c.567G>A (p.Trp189Ter)
|
|
|
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.1018del (p.Ala340fs)
|
|
|
NM_000263.4(NAGLU):c.1022-2A>G
|
rs2510658575
|
|
NM_000263.4(NAGLU):c.1043T>G (p.Leu348Arg)
|
rs2092925480
|
|
NM_000263.4(NAGLU):c.113_131dup (p.Asp47fs)
|
|
|
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs)
|
rs2143108228
|
|
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys)
|
rs777670507
|
|
NM_000263.4(NAGLU):c.1238del (p.Asn413fs)
|
rs2510659172
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1310C>T (p.Thr437Ile)
|
|
|
NM_000263.4(NAGLU):c.1335del (p.Glu446fs)
|
|
|
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1705dup (p.Gln569fs)
|
|
|
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)
|
rs1555622488
|
|
NM_000263.4(NAGLU):c.1915delinsTT (p.Glu639fs)
|
rs2510660651
|
|
NM_000263.4(NAGLU):c.192del (p.Tyr65fs)
|
rs2092906340
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)
|
rs2092930339
|
|
NM_000263.4(NAGLU):c.204del (p.Gly69fs)
|
|
|
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)
|
rs1567890245
|
|
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs)
|
rs2143116788
|
|
NM_000263.4(NAGLU):c.222_247del (p.Val75fs)
|
rs1201516783
|
|
NM_000263.4(NAGLU):c.224_231dup (p.Arg78fs)
|
|
|
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys)
|
rs1276484671
|
|
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)
|
rs1013345784
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
|
rs1352416909
|
|
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
rs2092905845
|
|
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
NM_000263.4(NAGLU):c.640del (p.Leu214fs)
|
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000263.4(NAGLU):c.764+1G>T
|
|
|
NM_000263.4(NAGLU):c.804G>A (p.Trp268Ter)
|
|
|
NM_000263.4(NAGLU):c.886del (p.Leu296fs)
|
rs752131463
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
rs1305299665
|
|
NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)
|
|
|
NM_000289.6(PFKM):c.1062+1G>A
|
rs766042700
|
|
NM_000289.6(PFKM):c.1191+1del
|
|
|
NM_000289.6(PFKM):c.1412+1G>T
|
rs1950563032
|
|
NM_000289.6(PFKM):c.1501-2del
|
rs1410122696
|
|
NM_000289.6(PFKM):c.1509_1510del (p.Gly505fs)
|
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000289.6(PFKM):c.160-1G>C
|
rs1282065754
|
|
NM_000289.6(PFKM):c.1607C>G (p.Ser536Ter)
|
|
|
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
|
rs1392144132
|
|
NM_000289.6(PFKM):c.1905dup (p.Thr636fs)
|
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
NM_000289.6(PFKM):c.353del (p.Gly118fs)
|
|
|
NM_000289.6(PFKM):c.594-2_594del
|
|
|
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
|
rs1343104321
|
|
NM_000289.6(PFKM):c.936+2T>G
|
rs112163675
|
|
NM_000290.4(PGAM2):c.427G>A (p.Ala143Thr)
|
rs775439724
|
|
NM_000291.4(PGK1):c.1133C>T (p.Thr378Ile)
|
|
|
NM_000291.4(PGK1):c.117-5T>G
|
|
|
NM_000291.4(PGK1):c.1196G>A (p.Ser399Asn)
|
rs2078377909
|
|
NM_000291.4(PGK1):c.11C>T (p.Ser4Phe)
|
rs2078257508
|
|
NM_000291.4(PGK1):c.1233G>C (p.Val411=)
|
|
|
NM_000291.4(PGK1):c.146T>A (p.Phe49Tyr)
|
rs781875982
|
|
NM_000291.4(PGK1):c.211C>G (p.Pro71Ala)
|
rs782378406
|
|
NM_000291.4(PGK1):c.273-10del
|
|
|
NM_000291.4(PGK1):c.280C>A (p.Leu94Met)
|
|
|
NM_000291.4(PGK1):c.287T>C (p.Leu96Ser)
|
|
|
NM_000291.4(PGK1):c.309A>C (p.Glu103Asp)
|
|
|
NM_000291.4(PGK1):c.344C>G (p.Ser115Cys)
|
|
|
NM_000291.4(PGK1):c.406T>C (p.Ser136Pro)
|
|
|
NM_000291.4(PGK1):c.409G>T (p.Gly137Trp)
|
|
|
NM_000291.4(PGK1):c.442G>C (p.Glu148Gln)
|
|
|
NM_000291.4(PGK1):c.444A>C (p.Glu148Asp)
|
|
|
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg)
|
rs2078257877
|
|
NM_000291.4(PGK1):c.506C>T (p.Ala169Val)
|
|
|
NM_000291.4(PGK1):c.521+8G>A
|
|
|
NM_000291.4(PGK1):c.62T>A (p.Met21Lys)
|
|
|
NM_000291.4(PGK1):c.665A>T (p.Gln222Leu)
|
|
|
NM_000291.4(PGK1):c.79G>A (p.Val27Ile)
|
rs2078291613
|
|
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)
|
rs2078365486
|
|
NM_000291.4(PGK1):c.832G>T (p.Val278Leu)
|
rs199571497
|
|
NM_000291.4(PGK1):c.937-14C>T
|
|
|
NM_000291.4(PGK1):c.937-17dup
|
rs782576397
|
|
NM_000291.4(PGK1):c.96C>A (p.Asn32Lys)
|
|
|
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile)
|
rs2147981456
|
|
NM_000293.3(PHKB):c.1175del (p.Leu391_Leu392insTer)
|
|
|
NM_000293.3(PHKB):c.1446del (p.Arg482fs)
|
|
|
NM_000293.3(PHKB):c.1514+2T>A
|
|
|
NM_000293.3(PHKB):c.167-6_170del
|
|
|
NM_000293.3(PHKB):c.1772_1780delinsATAGATAGATGACATA (p.Val591_Leu594delinsAspArgTer)
|
|
|
NM_000293.3(PHKB):c.1943del (p.Gly648fs)
|
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)
|
rs34667348
|
|
NM_000293.3(PHKB):c.2304_2305del (p.Arg768fs)
|
|
|
NM_000293.3(PHKB):c.2336+2T>C
|
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NM_000293.3(PHKB):c.2494C>T (p.Gln832Ter)
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NM_000293.3(PHKB):c.514-1G>C
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NM_000293.3(PHKB):c.514-2del
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NM_000293.3(PHKB):c.570_576delinsAC (p.Gln191fs)
|
rs2151651792
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NM_000294.3(PHKG2):c.334_337del (p.Lys112fs)
|
rs1567261757
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NM_000294.3(PHKG2):c.976del (p.His326fs)
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NM_000298.6(PKLR):c.1145G>A (p.Arg382Gln)
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NM_000298.6(PKLR):c.391_393del (p.Ile131del)
|
rs886045351
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NM_000308.4(CTSA):c.1005del (p.Ala336fs)
|
rs2515441206
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NM_000308.4(CTSA):c.1019dup (p.Tyr340Ter)
|
rs2515441270
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NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter)
|
rs2515445641
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NM_000308.4(CTSA):c.1359+2T>C
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NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)
|
rs72555383
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NM_000308.4(CTSA):c.358-2A>G
|
rs774528518
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NM_000308.4(CTSA):c.360del (p.Ile120fs)
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NM_000308.4(CTSA):c.445-2A>C
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NM_000308.4(CTSA):c.625_626del (p.Ser209fs)
|
rs1180450281
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NM_000308.4(CTSA):c.637C>T (p.Gln213Ter)
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NM_000308.4(CTSA):c.673_679del (p.His225fs)
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NM_000308.4(CTSA):c.768C>A (p.Cys256Ter)
|
rs767712946
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NM_000308.4(CTSA):c.833_834del (p.Tyr278fs)
|
rs875989777
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NM_000308.4(CTSA):c.948+1G>A
|
rs2515440641
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NM_000308.4(CTSA):c.990dup (p.Cys331fs)
|
rs758642867
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NM_000340.2(SLC2A2):c.1069-7G>T
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NM_000340.2(SLC2A2):c.1083G>T (p.Glu361Asp)
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NM_000340.2(SLC2A2):c.1111A>T (p.Ile371Phe)
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NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del)
|
rs772999215
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NM_000340.2(SLC2A2):c.1225A>T (p.Ser409Cys)
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NM_000340.2(SLC2A2):c.1346T>C (p.Ile449Thr)
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NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val)
|
rs749710583
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NM_000340.2(SLC2A2):c.1412G>C (p.Gly471Ala)
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NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys)
|
rs1560031152
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NM_000340.2(SLC2A2):c.1490C>T (p.Ala497Val)
|
rs200160167
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NM_000340.2(SLC2A2):c.1515dup (p.Ala506fs)
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NM_000340.2(SLC2A2):c.1540G>A (p.Glu514Lys)
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NM_000340.2(SLC2A2):c.1565A>G (p.Glu522Gly)
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NM_000340.2(SLC2A2):c.1567A>T (p.Thr523Ser)
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NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
|
rs1447936042
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NM_000340.2(SLC2A2):c.182T>C (p.Ile61Thr)
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NM_000340.2(SLC2A2):c.250G>T (p.Glu84Ter)
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NM_000340.2(SLC2A2):c.2T>C (p.Met1Thr)
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NM_000340.2(SLC2A2):c.332C>T (p.Ala111Val)
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NM_000340.2(SLC2A2):c.385T>A (p.Leu129Ile)
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NM_000340.2(SLC2A2):c.38C>G (p.Thr13Ser)
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NM_000340.2(SLC2A2):c.419del (p.Leu140fs)
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NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)
|
rs763620441
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NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser)
|
rs2473906384
|
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NM_000340.2(SLC2A2):c.497-2A>G
|
rs1318756243
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NM_000340.2(SLC2A2):c.520A>G (p.Met174Val)
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NM_000340.2(SLC2A2):c.567C>T (p.Gly189=)
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NM_000340.2(SLC2A2):c.597C>T (p.Gly199=)
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NM_000340.2(SLC2A2):c.613-1G>T
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NM_000340.2(SLC2A2):c.670del (p.Leu224fs)
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NM_000340.2(SLC2A2):c.706C>T (p.Leu236Phe)
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NM_000340.2(SLC2A2):c.70T>G (p.Phe24Val)
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NM_000340.2(SLC2A2):c.722A>G (p.Glu241Gly)
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NM_000340.2(SLC2A2):c.743T>A (p.Ile248Asn)
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NM_000340.2(SLC2A2):c.775+1del
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NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del)
|
rs774721090
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NM_000340.2(SLC2A2):c.910A>G (p.Ile304Val)
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NM_000340.2(SLC2A2):c.936G>C (p.Val312=)
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NM_000343.4(SLC5A1):c.1063T>A (p.Cys355Ser)
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NM_000343.4(SLC5A1):c.109G>A (p.Val37Met)
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NM_000343.4(SLC5A1):c.1129+3G>A
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NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=)
|
rs1457860223
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NM_000343.4(SLC5A1):c.1201G>A (p.Ala401Thr)
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NM_000343.4(SLC5A1):c.1224C>T (p.Asp408=)
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NM_000343.4(SLC5A1):c.1240C>T (p.Arg414Cys)
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NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His)
|
rs199573966
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NM_000343.4(SLC5A1):c.1261G>C (p.Glu421Gln)
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NM_000343.4(SLC5A1):c.136-1G>A
|
rs267606230
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NM_000343.4(SLC5A1):c.1403C>A (p.Ala468Glu)
|
rs200406921
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NM_000343.4(SLC5A1):c.1431G>A (p.Trp477Ter)
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NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys)
|
rs200665892
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NM_000343.4(SLC5A1):c.1449+15G>T
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NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=)
|
rs752536347
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NM_000343.4(SLC5A1):c.1665+3G>A
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NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His)
|
rs1449988154
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NM_000343.4(SLC5A1):c.1702G>C (p.Glu568Gln)
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NM_000343.4(SLC5A1):c.1738A>G (p.Ile580Val)
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NM_000343.4(SLC5A1):c.1751C>T (p.Pro584Leu)
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NM_000343.4(SLC5A1):c.1772-11C>T
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NM_000343.4(SLC5A1):c.1772-1G>A
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NM_000343.4(SLC5A1):c.1772-6G>A
|
rs201685531
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NM_000343.4(SLC5A1):c.1787A>C (p.Glu596Ala)
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|
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NM_000343.4(SLC5A1):c.1801A>G (p.Ile601Val)
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NM_000343.4(SLC5A1):c.1883T>C (p.Met628Thr)
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|
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NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala)
|
rs200684333
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NM_000343.4(SLC5A1):c.1919T>C (p.Leu640Ser)
|
|
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NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)
|
rs201383366
|
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NM_000343.4(SLC5A1):c.205_207+2delinsAA
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NM_000343.4(SLC5A1):c.207G>A (p.Pro69=)
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NM_000343.4(SLC5A1):c.286A>G (p.Ile96Val)
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NM_000343.4(SLC5A1):c.293T>C (p.Ile98Thr)
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NM_000343.4(SLC5A1):c.2T>C (p.Met1Thr)
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NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly)
|
rs2093974548
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NM_000343.4(SLC5A1):c.313-7A>T
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NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser)
|
rs2517649710
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NM_000343.4(SLC5A1):c.372+2_372+8delinsCTTATATTAAGG
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NM_000343.4(SLC5A1):c.373-10C>T
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NM_000343.4(SLC5A1):c.373-7del
|
rs778194598
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NM_000343.4(SLC5A1):c.376G>A (p.Val126Met)
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NM_000343.4(SLC5A1):c.491C>T (p.Ser164Leu)
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|
|
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser)
|
rs2149491664
|
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NM_000343.4(SLC5A1):c.584-6G>A
|
rs200525887
|
|
NM_000343.4(SLC5A1):c.611A>G (p.Asp204Gly)
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|
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NM_000343.4(SLC5A1):c.664+11C>T
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NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del)
|
rs1555965813
|
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NM_000343.4(SLC5A1):c.757G>T (p.Glu253Ter)
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|
|
NM_000343.4(SLC5A1):c.800G>A (p.Arg267Gln)
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NM_000343.4(SLC5A1):c.85A>G (p.Ile29Val)
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|
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val)
|
rs139037092
|
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NM_000343.4(SLC5A1):c.866G>A (p.Trp289Ter)
|
|
|
NM_000343.4(SLC5A1):c.885+1G>A
|
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NM_000343.4(SLC5A1):c.899G>A (p.Arg300His)
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|
NM_000343.4(SLC5A1):c.955T>C (p.Tyr319His)
|
|
|
NM_000352.6(ABCC8):c.1011+17del
|
rs1346712530
|
|
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg)
|
rs763028380
|
|
NM_000352.6(ABCC8):c.1064C>A (p.Ala355Asp)
|
|
|
NM_000352.6(ABCC8):c.1123G>A (p.Ala375Thr)
|
|
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NM_000352.6(ABCC8):c.1265C>T (p.Ala422Val)
|
|
|
NM_000352.6(ABCC8):c.1268T>C (p.Ile423Thr)
|
|
|
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)
|
rs370169777
|
|
NM_000352.6(ABCC8):c.1287G>A (p.Met429Ile)
|
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
NM_000352.6(ABCC8):c.1343G>C (p.Gly448Ala)
|
|
|
NM_000352.6(ABCC8):c.1396G>A (p.Val466Ile)
|
|
|
NM_000352.6(ABCC8):c.13T>G (p.Phe5Val)
|
|
|
NM_000352.6(ABCC8):c.1429G>A (p.Val477Met)
|
|
|
NM_000352.6(ABCC8):c.1468-14G>A
|
|
|
NM_000352.6(ABCC8):c.1468-2A>G
|
|
|
NM_000352.6(ABCC8):c.148+1G>A
|
rs766312766
|
|
NM_000352.6(ABCC8):c.154G>A (p.Gly52Arg)
|
|
|
NM_000352.6(ABCC8):c.1570A>G (p.Thr524Ala)
|
|
|
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)
|
rs144481621
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
NM_000352.6(ABCC8):c.1682G>A (p.Gly561Asp)
|
|
|
NM_000352.6(ABCC8):c.1717C>T (p.Pro573Ser)
|
|
|
NM_000352.6(ABCC8):c.171G>C (p.Lys57Asn)
|
|
|
NM_000352.6(ABCC8):c.1731del (p.Phe577fs)
|
|
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
|
NM_000352.6(ABCC8):c.1741T>A (p.Ser581Thr)
|
|
|
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu)
|
rs1955814875
|
|
NM_000352.6(ABCC8):c.1813G>A (p.Val605Met)
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.1893del (p.Gln632fs)
|
rs2133539303
|
|
NM_000352.6(ABCC8):c.1900C>G (p.Pro634Ala)
|
|
|
NM_000352.6(ABCC8):c.1901del (p.Pro634fs)
|
|
|
NM_000352.6(ABCC8):c.1924-18C>A
|
|
|
NM_000352.6(ABCC8):c.1957C>T (p.Arg653Trp)
|
rs372230762
|
|
NM_000352.6(ABCC8):c.1962G>C (p.Glu654Asp)
|
|
|
NM_000352.6(ABCC8):c.1A>G (p.Met1Val)
|
rs2496931481
|
|
NM_000352.6(ABCC8):c.2004del (p.Ser669fs)
|
rs2496667722
|
|
NM_000352.6(ABCC8):c.2041-12C>A
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2054A>G (p.Tyr685Cys)
|
|
|
NM_000352.6(ABCC8):c.2073T>A (p.Asp691Glu)
|
|
|
NM_000352.6(ABCC8):c.2114G>A (p.Arg705Gln)
|
|
|
NM_000352.6(ABCC8):c.2135T>C (p.Val712Ala)
|
|
|
NM_000352.6(ABCC8):c.2152G>A (p.Gly718Ser)
|
|
|
NM_000352.6(ABCC8):c.2176G>T (p.Ala726Ser)
|
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)
|
rs753296261
|
|
NM_000352.6(ABCC8):c.2245_2249del (p.Glu749fs)
|
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2256C>T (p.Ser752=)
|
|
|
NM_000352.6(ABCC8):c.2278G>A (p.Asp760Asn)
|
|
|
NM_000352.6(ABCC8):c.2291+1G>A
|
rs1160946320
|
|
NM_000352.6(ABCC8):c.2309C>G (p.Ala770Gly)
|
|
|
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)
|
rs766321878
|
|
NM_000352.6(ABCC8):c.2389C>G (p.Arg797Gly)
|
|
|
NM_000352.6(ABCC8):c.2391-5G>T
|
|
|
NM_000352.6(ABCC8):c.2391-9C>A
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2449G>A (p.Gly817Arg)
|
|
|
NM_000352.6(ABCC8):c.2465T>C (p.Ile822Thr)
|
|
|
NM_000352.6(ABCC8):c.2470G>T (p.Glu824Ter)
|
rs2496577975
|
|
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp)
|
rs779736828
|
|
NM_000352.6(ABCC8):c.2492del (p.Gly831fs)
|
|
|
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)
|
rs1484689392
|
|
NM_000352.6(ABCC8):c.2543A>G (p.Asn848Ser)
|
|
|
NM_000352.6(ABCC8):c.2572G>A (p.Ala858Thr)
|
|
|
NM_000352.6(ABCC8):c.25G>T (p.Glu9Ter)
|
|
|
NM_000352.6(ABCC8):c.2662del (p.His888fs)
|
|
|
NM_000352.6(ABCC8):c.2680C>T (p.Pro894Ser)
|
|
|
NM_000352.6(ABCC8):c.2689G>T (p.Asp897Tyr)
|
rs2496556981
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2706G>A (p.Met902Ile)
|
|
|
NM_000352.6(ABCC8):c.278T>C (p.Ile93Thr)
|
|
|
NM_000352.6(ABCC8):c.2854C>T (p.Pro952Ser)
|
|
|
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.2869C>T (p.Arg957Cys)
|
|
|
NM_000352.6(ABCC8):c.2894T>C (p.Leu965Pro)
|
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.291-5C>T
|
rs2133711631
|
|
NM_000352.6(ABCC8):c.2917G>T (p.Glu973Ter)
|
|
|
NM_000352.6(ABCC8):c.291G>A (p.Gly97=)
|
|
|
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)
|
rs568576108
|
|
NM_000352.6(ABCC8):c.2929G>C (p.Ala977Pro)
|
|
|
NM_000352.6(ABCC8):c.2957C>T (p.Ser986Leu)
|
|
|
NM_000352.6(ABCC8):c.2969A>C (p.His990Pro)
|
|
|
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)
|
rs201499958
|
|
NM_000352.6(ABCC8):c.2980G>A (p.Glu994Lys)
|
|
|
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro)
|
rs776248166
|
|
NM_000352.6(ABCC8):c.3001G>A (p.Ala1001Thr)
|
|
|
NM_000352.6(ABCC8):c.3009C>G (p.Tyr1003Ter)
|
|
|
NM_000352.6(ABCC8):c.3014C>T (p.Ser1005Phe)
|
|
|
NM_000352.6(ABCC8):c.3019G>C (p.Ala1007Pro)
|
|
|
NM_000352.6(ABCC8):c.302C>T (p.Ser101Phe)
|
|
|
NM_000352.6(ABCC8):c.3096_3097delinsAA (p.Trp1032_Leu1033delinsTer)
|
|
|
NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg)
|
rs199723884
|
|
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)
|
rs786204542
|
|
NM_000352.6(ABCC8):c.3162+1G>A
|
|
|
NM_000352.6(ABCC8):c.3168C>T (p.Cys1056=)
|
rs1799860
|
|
NM_000352.6(ABCC8):c.3170C>A (p.Thr1057Asn)
|
|
|
NM_000352.6(ABCC8):c.3188A>G (p.Tyr1063Cys)
|
|
|
NM_000352.6(ABCC8):c.3238G>A (p.Val1080Ile)
|
|
|
NM_000352.6(ABCC8):c.3261G>A (p.Trp1087Ter)
|
|
|
NM_000352.6(ABCC8):c.3327G>C (p.Met1109Ile)
|
|
|
NM_000352.6(ABCC8):c.3330-5C>T
|
|
|
NM_000352.6(ABCC8):c.3330G>A (p.Arg1110=)
|
|
|
NM_000352.6(ABCC8):c.3335T>C (p.Phe1112Ser)
|
|
|
NM_000352.6(ABCC8):c.3399G>T (p.Gln1133His)
|
|
|
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)
|
rs762412267
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
NM_000352.6(ABCC8):c.3455C>A (p.Ala1152Asp)
|
rs1354859002
|
|
NM_000352.6(ABCC8):c.3457C>A (p.Leu1153Met)
|
|
|
NM_000352.6(ABCC8):c.3484G>A (p.Val1162Met)
|
|
|
NM_000352.6(ABCC8):c.3515T>A (p.Ile1172Asn)
|
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.3589C>G (p.Leu1197Val)
|
|
|
NM_000352.6(ABCC8):c.3623_3625del (p.Glu1208del)
|
|
|
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)
|
rs770028071
|
|
NM_000352.6(ABCC8):c.3650+2T>C
|
|
|
NM_000352.6(ABCC8):c.3650+2T>G
|
|
|
NM_000352.6(ABCC8):c.3662G>A (p.Arg1221Gln)
|
|
|
NM_000352.6(ABCC8):c.3665T>C (p.Phe1222Ser)
|
|
|
NM_000352.6(ABCC8):c.3682G>A (p.Glu1228Lys)
|
|
|
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=)
|
rs775699878
|
|
NM_000352.6(ABCC8):c.3777G>T (p.Val1259=)
|
|
|
NM_000352.6(ABCC8):c.3799A>G (p.Ile1267Val)
|
|
|
NM_000352.6(ABCC8):c.3837G>A (p.Leu1279=)
|
|
|
NM_000352.6(ABCC8):c.3867+1G>A
|
rs2496469312
|
|
NM_000352.6(ABCC8):c.3893T>A (p.Val1298Glu)
|
|
|
NM_000352.6(ABCC8):c.389C>G (p.Ser130Cys)
|
|
|
NM_000352.6(ABCC8):c.392A>C (p.Asn131Thr)
|
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
NM_000352.6(ABCC8):c.3988+9C>G
|
|
|
NM_000352.6(ABCC8):c.3988G>T (p.Ala1330Ser)
|
|
|
NM_000352.6(ABCC8):c.3989-14A>G
|
|
|
NM_000352.6(ABCC8):c.3989-28_3989-11del
|
|
|
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)
|
rs886039301
|
|
NM_000352.6(ABCC8):c.4034A>G (p.Gln1345Arg)
|
|
|
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4089C>G (p.His1363Gln)
|
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr)
|
rs757110
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
NM_000352.6(ABCC8):c.413-5G>C
|
rs186946111
|
|
NM_000352.6(ABCC8):c.4140C>A (p.Thr1380=)
|
|
|
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=)
|
rs1250433233
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4198+3G>T
|
|
|
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)
|
rs1436692401
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4283_4290del (p.Pro1428fs)
|
|
|
NM_000352.6(ABCC8):c.4288C>T (p.Leu1430Phe)
|
|
|
NM_000352.6(ABCC8):c.4326G>C (p.Glu1442Asp)
|
|
|
NM_000352.6(ABCC8):c.432_435dup (p.Ala146fs)
|
|
|
NM_000352.6(ABCC8):c.4345A>C (p.Thr1449Pro)
|
|
|
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)
|
rs1554904565
|
|
NM_000352.6(ABCC8):c.4357G>A (p.Ala1453Thr)
|
|
|
NM_000352.6(ABCC8):c.4411+18T>G
|
|
|
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)
|
rs1953794808
|
|
NM_000352.6(ABCC8):c.4456A>G (p.Arg1486Gly)
|
|
|
NM_000352.6(ABCC8):c.4498A>G (p.Ser1500Gly)
|
|
|
NM_000352.6(ABCC8):c.4565del (p.Val1522fs)
|
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn)
|
rs1953751569
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)
|
rs760494159
|
|
NM_000352.6(ABCC8):c.4702C>T (p.Arg1568Trp)
|
|
|
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter)
|
rs1591896370
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000352.6(ABCC8):c.580-1G>C
|
|
|
NM_000352.6(ABCC8):c.597_598dup (p.Thr200fs)
|
|
|
NM_000352.6(ABCC8):c.643G>T (p.Val215Leu)
|
|
|
NM_000352.6(ABCC8):c.664G>A (p.Val222Met)
|
|
|
NM_000352.6(ABCC8):c.703G>A (p.Ala235Thr)
|
|
|
NM_000352.6(ABCC8):c.713A>G (p.Lys238Arg)
|
|
|
NM_000352.6(ABCC8):c.73G>A (p.Gly25Ser)
|
|
|
NM_000352.6(ABCC8):c.743G>A (p.Arg248Gln)
|
|
|
NM_000352.6(ABCC8):c.752G>A (p.Gly251Glu)
|
|
|
NM_000352.6(ABCC8):c.752G>T (p.Gly251Val)
|
|
|
NM_000352.6(ABCC8):c.763A>G (p.Ile255Val)
|
|
|
NM_000352.6(ABCC8):c.795G>T (p.Arg265=)
|
rs1386314454
|
|
NM_000352.6(ABCC8):c.7C>G (p.Leu3Val)
|
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.814G>A (p.Ala272Thr)
|
|
|
NM_000352.6(ABCC8):c.868G>C (p.Ala290Pro)
|
|
|
NM_000352.6(ABCC8):c.874A>G (p.Ser292Gly)
|
|
|
NM_000352.6(ABCC8):c.878A>G (p.His293Arg)
|
rs587783175
|
|
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)
|
rs751228166
|
|
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu)
|
rs768372267
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)
|
rs1559385963
|
|
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)
|
rs398123348
|
|
NM_000404.4(GLB1):c.1242del (p.Phe415fs)
|
|
|
NM_000404.4(GLB1):c.1347+1G>T
|
rs757256051
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000404.4(GLB1):c.146G>C (p.Arg49Pro)
|
rs780523881
|
|
NM_000404.4(GLB1):c.1471G>T (p.Asp491Tyr)
|
|
|
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
|
rs794729217
|
|
NM_000404.4(GLB1):c.1598_1601dup (p.His534fs)
|
rs1304277420
|
|
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp)
|
rs1696348575
|
|
NM_000404.4(GLB1):c.1792C>T (p.Gln598Ter)
|
|
|
NM_000404.4(GLB1):c.1823T>C (p.Leu608Pro)
|
|
|
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
|
rs759483184
|
|
NM_000404.4(GLB1):c.1991del (p.Pro664fs)
|
rs1553604677
|
|
NM_000404.4(GLB1):c.275G>A (p.Trp92Ter)
|
|
|
NM_000404.4(GLB1):c.288C>G (p.Tyr96Ter)
|
|
|
NM_000404.4(GLB1):c.289C>T (p.Gln97Ter)
|
|
|
NM_000404.4(GLB1):c.29dup (p.Leu11fs)
|
|
|
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)
|
rs397515616
|
|
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)
|
rs751033858
|
|
NM_000404.4(GLB1):c.435_436delinsA (p.Leu146fs)
|
|
|
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.462C>G (p.Tyr154Ter)
|
|
|
NM_000404.4(GLB1):c.468del (p.Ala157fs)
|
|
|
NM_000404.4(GLB1):c.47del (p.Leu16fs)
|
|
|
NM_000404.4(GLB1):c.488dup (p.Val164fs)
|
|
|
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro)
|
rs397515617
|
|
NM_000404.4(GLB1):c.531_534del (p.Gly178fs)
|
rs1559408259
|
|
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)
|
rs2125533127
|
|
NM_000404.4(GLB1):c.597_598del (p.Leu200fs)
|
|
|
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)
|
rs2471397544
|
|
NM_000404.4(GLB1):c.769_792+13del
|
rs1282958432
|
|
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)
|
rs1559401428
|
|
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)
|
rs1378338444
|
|
NM_000404.4(GLB1):c.833del (p.Gly278fs)
|
rs2471375093
|
|
NM_000404.4(GLB1):c.955+2T>G
|
rs746883447
|
|
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)
|
rs370107958
|
|
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)
|
rs751458617
|
|
NM_000458.4(HNF1B):c.1000_1001insA (p.Ser334fs)
|
|
|
NM_000458.4(HNF1B):c.1006C>A (p.His336Asn)
|
rs138986885
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
rs138986885
|
|
NM_000458.4(HNF1B):c.1013A>G (p.Gln338Arg)
|
|
|
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
|
rs1282596664
|
|
NM_000458.4(HNF1B):c.1038G>A (p.Lys346=)
|
|
|
NM_000458.4(HNF1B):c.1046G>A (p.Gly349Glu)
|
|
|
NM_000458.4(HNF1B):c.1051C>T (p.Arg351Cys)
|
|
|
NM_000458.4(HNF1B):c.1056_1057del (p.Tyr352_Ser353delinsTer)
|
|
|
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His)
|
rs202109472
|
|
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)
|
rs2511723972
|
|
NM_000458.4(HNF1B):c.1121T>C (p.Met374Thr)
|
|
|
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)
|
rs2147473703
|
|
NM_000458.4(HNF1B):c.116T>A (p.Phe39Tyr)
|
|
|
NM_000458.4(HNF1B):c.1196A>G (p.Asp399Gly)
|
|
|
NM_000458.4(HNF1B):c.1213G>C (p.Val405Leu)
|
|
|
NM_000458.4(HNF1B):c.1365T>G (p.Ser455Arg)
|
|
|
NM_000458.4(HNF1B):c.1399G>A (p.Ala467Thr)
|
|
|
NM_000458.4(HNF1B):c.1406_1413del (p.Leu469fs)
|
|
|
NM_000458.4(HNF1B):c.1493A>C (p.Gln498Pro)
|
|
|
NM_000458.4(HNF1B):c.1507G>C (p.Ala503Pro)
|
|
|
NM_000458.4(HNF1B):c.1525A>C (p.Asn509His)
|
rs2511700041
|
|
NM_000458.4(HNF1B):c.1543C>T (p.His515Tyr)
|
rs1188569241
|
|
NM_000458.4(HNF1B):c.1544A>G (p.His515Arg)
|
|
|
NM_000458.4(HNF1B):c.1562A>G (p.Gln521Arg)
|
|
|
NM_000458.4(HNF1B):c.171C>A (p.Asp57Glu)
|
|
|
NM_000458.4(HNF1B):c.193C>T (p.Leu65Phe)
|
|
|
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
|
rs2511850923
|
|
NM_000458.4(HNF1B):c.315G>T (p.Glu105Asp)
|
|
|
NM_000458.4(HNF1B):c.332A>G (p.Asp111Gly)
|
rs1311605355
|
|
NM_000458.4(HNF1B):c.33_34del (p.Glu11fs)
|
|
|
NM_000458.4(HNF1B):c.377A>G (p.Lys126Arg)
|
|
|
NM_000458.4(HNF1B):c.381_382del (p.Tyr128fs)
|
|
|
NM_000458.4(HNF1B):c.385A>G (p.Met129Val)
|
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
rs121918674
|
|
NM_000458.4(HNF1B):c.454C>T (p.Gln152Ter)
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
rs193922489
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
rs121918675
|
|
NM_000458.4(HNF1B):c.514del (p.Tyr172fs)
|
|
|
NM_000458.4(HNF1B):c.521_527del (p.Arg174fs)
|
|
|
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
|
rs1800575
|
|
NM_000458.4(HNF1B):c.538C>T (p.Leu180Phe)
|
|
|
NM_000458.4(HNF1B):c.538_541del (p.Leu180fs)
|
|
|
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
|
rs1057517744
|
|
NM_000458.4(HNF1B):c.544+14T>A
|
rs759120365
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
rs1568670479
|
|
NM_000458.4(HNF1B):c.544+5G>A
|
rs2511827891
|
|
NM_000458.4(HNF1B):c.544C>G (p.Gln182Glu)
|
|
|
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
|
rs1568670481
|
|
NM_000458.4(HNF1B):c.558_561del (p.Val187fs)
|
|
|
NM_000458.4(HNF1B):c.577A>T (p.Met193Leu)
|
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
NM_000458.4(HNF1B):c.601C>G (p.Gln201Glu)
|
|
|
NM_000458.4(HNF1B):c.622G>C (p.Glu208Gln)
|
|
|
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.658G>C (p.Asp220His)
|
rs377555356
|
|
NM_000458.4(HNF1B):c.68A>G (p.Lys23Arg)
|
rs2511853122
|
|
NM_000458.4(HNF1B):c.694C>T (p.Arg232Cys)
|
rs766793933
|
|
NM_000458.4(HNF1B):c.695G>A (p.Arg232His)
|
|
|
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)
|
rs748416956
|
|
NM_000458.4(HNF1B):c.809+1G>A
|
rs1555830002
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
rs121918672
|
|
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
|
rs2511802259
|
|
NM_000458.4(HNF1B):c.831G>A (p.Gly277=)
|
rs199797518
|
|
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
|
rs2511801868
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
rs886043813
|
|
NM_000458.4(HNF1B):c.891C>A (p.Tyr297Ter)
|
|
|
NM_000458.4(HNF1B):c.908G>A (p.Arg303His)
|
rs2033692404
|
|
NM_000458.4(HNF1B):c.949G>A (p.Ala317Thr)
|
|
|
NM_000458.4(HNF1B):c.995A>G (p.His332Arg)
|
|
|
NM_000458.4(HNF1B):c.997G>A (p.Gly333Ser)
|
|
|
NM_000507.4(FBP1):c.427-2A>G
|
rs754248755
|
|
NM_000507.4(FBP1):c.704del (p.Pro235fs)
|
rs774362519
|
|
NM_000507.4(FBP1):c.816dup (p.Asn273fs)
|
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)
|
rs2543661181
|
|
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)
|
rs794726887
|
|
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter)
|
rs761455237
|
|
NM_000512.5(GALNS):c.120+1G>T
|
|
|
NM_000512.5(GALNS):c.121-2A>G
|
rs1567538216
|
|
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs)
|
rs1910359431
|
|
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs)
|
rs778286877
|
|
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu)
|
rs398123432
|
|
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)
|
rs1909818289
|
|
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)
|
rs1482155729
|
|
NM_000512.5(GALNS):c.1459A>T (p.Asn487Tyr)
|
rs2508364664
|
|
NM_000512.5(GALNS):c.1483-1G>T
|
|
|
NM_000512.5(GALNS):c.1487G>A (p.Trp496Ter)
|
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
NM_000512.5(GALNS):c.320-1G>C
|
rs1245504167
|
|
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
|
rs746949976
|
|
NM_000512.5(GALNS):c.503del (p.Gly168fs)
|
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
NM_000512.5(GALNS):c.675dup (p.Phe226fs)
|
rs1480024542
|
|
NM_000512.5(GALNS):c.758+1G>A
|
rs1363382746
|
|
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp)
|
rs61742258
|
|
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)
|
rs2143001162
|
|
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del)
|
rs1567530426
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
NM_000512.5(GALNS):c.899-2A>G
|
rs1165218506
|
|
NM_000512.5(GALNS):c.910_914del (p.Gly304fs)
|
|
|
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)
|
rs1440128889
|
|
NM_000525.4(KCNJ11):c.-150G>A
|
rs886048043
|
|
NM_000525.4(KCNJ11):c.1030_1031del (p.Cys344fs)
|
|
|
NM_000525.4(KCNJ11):c.1033A>G (p.Thr345Ala)
|
|
|
NM_000525.4(KCNJ11):c.1060A>G (p.Ser354Gly)
|
|
|
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)
|
rs543286136
|
|
NM_000525.4(KCNJ11):c.1105C>A (p.Arg369Ser)
|
rs371275937
|
|
NM_000525.4(KCNJ11):c.110C>G (p.Ser37Cys)
|
|
|
NM_000525.4(KCNJ11):c.1121C>G (p.Pro374Arg)
|
|
|
NM_000525.4(KCNJ11):c.190G>T (p.Val64Leu)
|
|
|
NM_000525.4(KCNJ11):c.212C>T (p.Thr71Ile)
|
|
|
NM_000525.4(KCNJ11):c.224T>A (p.Phe75Tyr)
|
|
|
NM_000525.4(KCNJ11):c.293G>A (p.Gly98Asp)
|
|
|
NM_000525.4(KCNJ11):c.325C>T (p.Pro109Ser)
|
|
|
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser)
|
rs766891274
|
|
NM_000525.4(KCNJ11):c.430C>G (p.Leu144Val)
|
rs1953586245
|
|
NM_000525.4(KCNJ11):c.433G>T (p.Ala145Ser)
|
rs1490024562
|
|
NM_000525.4(KCNJ11):c.46C>T (p.Arg16Cys)
|
|
|
NM_000525.4(KCNJ11):c.628A>G (p.Ile210Val)
|
|
|
NM_000525.4(KCNJ11):c.62C>T (p.Pro21Leu)
|
|
|
NM_000525.4(KCNJ11):c.635G>A (p.Ser212Asn)
|
|
|
NM_000525.4(KCNJ11):c.65C>T (p.Ala22Val)
|
|
|
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)
|
rs768909861
|
|
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
|
|
|
NM_000525.4(KCNJ11):c.719T>C (p.Met240Thr)
|
|
|
NM_000525.4(KCNJ11):c.730G>A (p.Val244Met)
|
|
|
NM_000525.4(KCNJ11):c.733G>T (p.Gly245Cys)
|
|
|
NM_000525.4(KCNJ11):c.758C>T (p.Ala253Val)
|
|
|
NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)
|
|
|
NM_000525.4(KCNJ11):c.817A>G (p.Ser273Gly)
|
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys)
|
rs377091338
|
|
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)
|
rs761575495
|
|
NM_000525.4(KCNJ11):c.943T>G (p.Phe315Val)
|
|
|
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)
|
rs550315112
|
|
NM_000525.4(KCNJ11):c.973C>T (p.Arg325Cys)
|
rs550315112
|
|
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=)
|
rs1489389760
|
|
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
|
rs2024251717
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1110-6_1110del
|
|
|
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)
|
rs781291011
|
|
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)
|
rs2512503484
|
|
NM_000528.4(MAN2B1):c.1379del (p.Asp460fs)
|
rs2512501525
|
|
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
|
rs771647137
|
|
NM_000528.4(MAN2B1):c.1419+2T>C
|
|
|
NM_000528.4(MAN2B1):c.1419+6C>T
|
|
|
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)
|
rs2023968144
|
|
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs)
|
rs2145290975
|
|
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)
|
rs1224319934
|
|
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)
|
rs398123455
|
|
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu)
|
rs967834240
|
|
NM_000528.4(MAN2B1):c.2046+1G>T
|
rs1555707087
|
|
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
|
rs2512489951
|
|
NM_000528.4(MAN2B1):c.2165+1G>A
|
rs80338679
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2581G>T (p.Glu861Ter)
|
|
|
NM_000528.4(MAN2B1):c.2786delinsTCC (p.Arg929fs)
|
|
|
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro)
|
rs139041112
|
|
NM_000528.4(MAN2B1):c.2923+2T>A
|
|
|
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr)
|
rs1555710357
|
|
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
|
rs2024205685
|
|
NM_000528.4(MAN2B1):c.464G>A (p.Trp155Ter)
|
|
|
NM_000528.4(MAN2B1):c.561del (p.Arg188fs)
|
rs770297337
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
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.788C>T (p.Pro263Leu)
|
rs746808159
|
|
NM_000528.4(MAN2B1):c.909+1G>A
|
|
|
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)
|
rs1054487
|
|
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer)
|
rs778131120
|
|
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)
|
rs193922598
|
|
NM_000545.8(HNF1A):c.-119G>A
|
|
|
NM_000545.8(HNF1A):c.-133_-128dup
|
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000545.8(HNF1A):c.-64_-55delinsGC
|
|
|
NM_000545.8(HNF1A):c.1036_1056dup (p.Ser352_Pro353insThrProLeuHisGlnValSer)
|
|
|
NM_000545.8(HNF1A):c.1107+9C>T
|
|
|
NM_000545.8(HNF1A):c.1107G>C (p.Leu369=)
|
|
|
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.1206C>A (p.Asn402Lys)
|
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
NM_000545.8(HNF1A):c.1322C>T (p.Thr441Met)
|
rs371544082
|
|
NM_000545.8(HNF1A):c.1361G>A (p.Ser454Asn)
|
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
NM_000545.8(HNF1A):c.1456C>T (p.Gln486Ter)
|
|
|
NM_000545.8(HNF1A):c.1469T>C (p.Met490Thr)
|
|
|
NM_000545.8(HNF1A):c.1474A>G (p.Thr492Ala)
|
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
NM_000545.8(HNF1A):c.1512C>A (p.Ser504Arg)
|
rs944413465
|
|
NM_000545.8(HNF1A):c.1526T>C (p.Val509Ala)
|
|
|
NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met)
|
rs745460046
|
|
NM_000545.8(HNF1A):c.154G>A (p.Gly52Ser)
|
|
|
NM_000545.8(HNF1A):c.1555_1556dup (p.Gln520fs)
|
|
|
NM_000545.8(HNF1A):c.1575_1576delinsA (p.Asp526fs)
|
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
NM_000545.8(HNF1A):c.1668_1669delinsAT (p.His556_Thr557delinsGlnSer)
|
|
|
NM_000545.8(HNF1A):c.1715del (p.Pro572fs)
|
|
|
NM_000545.8(HNF1A):c.1717G>T (p.Ala573Ser)
|
|
|
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
|
|
|
NM_000545.8(HNF1A):c.1720_1721delinsGA (p.Ser574Asp)
|
|
|
NM_000545.8(HNF1A):c.1720delinsGGCATCCAGCACCG (p.Ser574fs)
|
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
NM_000545.8(HNF1A):c.1768+5G>A
|
|
|
NM_000545.8(HNF1A):c.1789C>T (p.Leu597=)
|
|
|
NM_000545.8(HNF1A):c.1810A>G (p.Ser604Gly)
|
|
|
NM_000545.8(HNF1A):c.1812C>G (p.Ser604Arg)
|
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
NM_000545.8(HNF1A):c.1838C>T (p.Ser613Phe)
|
|
|
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)
|
rs193922591
|
|
NM_000545.8(HNF1A):c.1864A>C (p.Ile622Leu)
|
|
|
NM_000545.8(HNF1A):c.1877T>A (p.Met626Lys)
|
|
|
NM_000545.8(HNF1A):c.216C>G (p.Asp72Glu)
|
|
|
NM_000545.8(HNF1A):c.223G>A (p.Asp75Asn)
|
|
|
NM_000545.8(HNF1A):c.238G>T (p.Asp80Tyr)
|
rs76845985
|
|
NM_000545.8(HNF1A):c.272A>G (p.Asn91Ser)
|
|
|
NM_000545.8(HNF1A):c.283G>A (p.Glu95Lys)
|
rs1555210473
|
|
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)
|
rs753998395
|
|
NM_000545.8(HNF1A):c.3G>A (p.Met1Ile)
|
|
|
NM_000545.8(HNF1A):c.41C>T (p.Ala14Val)
|
rs772214801
|
|
NM_000545.8(HNF1A):c.464A>G (p.Lys155Arg)
|
|
|
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)
|
rs754728827
|
|
NM_000545.8(HNF1A):c.542G>A (p.Gly181Glu)
|
|
|
NM_000545.8(HNF1A):c.548G>C (p.Gly183Ala)
|
|
|
NM_000545.8(HNF1A):c.587C>G (p.Thr196Ser)
|
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.691A>T (p.Thr231Ser)
|
|
|
NM_000545.8(HNF1A):c.788G>A (p.Arg263His)
|
rs1057520504
|
|
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.845C>A (p.Ala282Asp)
|
|
|
NM_000545.8(HNF1A):c.862G>A (p.Gly288Arg)
|
rs539507291
|
|
NM_000545.8(HNF1A):c.863_864inv (p.Gly288Ala)
|
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs)
|
rs1593058932
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
NM_000545.8(HNF1A):c.869C>A (p.Pro290His)
|
rs778231679
|
|
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_000545.8(HNF1A):c.893C>T (p.Ala298Val)
|
|
|
NM_000545.8(HNF1A):c.929C>T (p.Pro310Leu)
|
|
|
NM_000545.8(HNF1A):c.932C>G (p.Ala311Gly)
|
|
|
NM_000545.8(HNF1A):c.943A>C (p.Ser315Arg)
|
|
|
NM_000545.8(HNF1A):c.950T>C (p.Val317Ala)
|
|
|
NM_000545.8(HNF1A):c.961C>T (p.Arg321Cys)
|
|
|
NM_000545.8(HNF1A):c.973C>A (p.Pro325Thr)
|
|
|
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.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.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_000925.4(PDHB):c.314G>A (p.Arg105Gln)
|
rs868788199
|
|
NM_001008216.2(GALE):c.122-11_122-1del
|
rs747715399
|
|
NM_001008216.2(GALE):c.142_143del (p.Ser48fs)
|
|
|
NM_001008216.2(GALE):c.151_154del (p.Arg51fs)
|
rs780861587
|
|
NM_001008216.2(GALE):c.2T>C (p.Met1Thr)
|
rs1268440347
|
|
NM_001008216.2(GALE):c.315_316del (p.Tyr105_Arg106delinsTer)
|
|
|
NM_001008216.2(GALE):c.351+1G>T
|
rs1388106856
|
|
NM_001008216.2(GALE):c.517del (p.Gln173fs)
|
rs1557479812
|
|
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro)
|
rs121908045
|
|
NM_001008216.2(GALE):c.643-2A>C
|
rs773462569
|
|
NM_001008216.2(GALE):c.726_729del (p.Ile242fs)
|
|
|
NM_001008216.2(GALE):c.749del (p.Gly250fs)
|
rs1570630665
|
|
NM_001008216.2(GALE):c.882C>A (p.Tyr294Ter)
|
|
|
NM_001008216.2(GALE):c.882C>G (p.Tyr294Ter)
|
|
|
NM_001008216.2(GALE):c.924C>G (p.Tyr308Ter)
|
|
|
NM_001008216.2(GALE):c.989_990dup (p.Glu331fs)
|
|
|
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)
|
rs113994143
|
|
NM_001040716.2(PC):c.1368+1G>A
|
rs755640269
|
|
NM_001040716.2(PC):c.1368+1G>C
|
|
|
NM_001040716.2(PC):c.1513+9C>A
|
rs45580638
|
|
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)
|
rs28940589
|
|
NM_001040716.2(PC):c.2206_2218delinsTT (p.His736fs)
|
|
|
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)
|
rs2135798857
|
|
NM_001040716.2(PC):c.2473+2_2473+5del
|
rs755082537
|
|
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)
|
rs867332885
|
|
NM_001040716.2(PC):c.2895del (p.Lys966fs)
|
|
|
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)
|
rs2495406056
|
|
NM_001040716.2(PC):c.3135del (p.Glu1046fs)
|
|
|
NM_001040716.2(PC):c.3387del (p.Lys1130fs)
|
rs2135783409
|
|
NM_001040716.2(PC):c.80del (p.Pro27fs)
|
|
|
NM_001040716.2(PC):c.854dup (p.Gln286fs)
|
|
|
NM_001041.4(SI):c.1021-7C>G
|
|
|
NM_001041.4(SI):c.1023del (p.Val342fs)
|
rs1713910885
|
|
NM_001041.4(SI):c.1034C>T (p.Pro345Leu)
|
|
|
NM_001041.4(SI):c.106C>A (p.Pro36Thr)
|
|
|
NM_001041.4(SI):c.1127G>A (p.Arg376Gln)
|
|
|
NM_001041.4(SI):c.1129G>A (p.Glu377Lys)
|
|
|
NM_001041.4(SI):c.113T>C (p.Val38Ala)
|
|
|
NM_001041.4(SI):c.1141C>A (p.Pro381Thr)
|
|
|
NM_001041.4(SI):c.1156G>C (p.Val386Leu)
|
|
|
NM_001041.4(SI):c.1167T>G (p.Ile389Met)
|
|
|
NM_001041.4(SI):c.118+6T>C
|
|
|
NM_001041.4(SI):c.1180G>A (p.Asp394Asn)
|
|
|
NM_001041.4(SI):c.119-11dup
|
rs533057264
|
|
NM_001041.4(SI):c.119A>G (p.Glu40Gly)
|
|
|
NM_001041.4(SI):c.1211C>T (p.Ala404Val)
|
rs202151060
|
|
NM_001041.4(SI):c.1238A>C (p.Gln413Pro)
|
|
|
NM_001041.4(SI):c.1278+6_1278+8del
|
|
|
NM_001041.4(SI):c.1290T>G (p.Ile430Met)
|
|
|
NM_001041.4(SI):c.12G>T (p.Lys4Asn)
|
|
|
NM_001041.4(SI):c.1300C>T (p.Arg434Ter)
|
|
|
NM_001041.4(SI):c.1331A>G (p.Tyr444Cys)
|
|
|
NM_001041.4(SI):c.1333G>A (p.Glu445Lys)
|
|
|
NM_001041.4(SI):c.1339G>A (p.Gly447Arg)
|
rs764176809
|
|
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)
|
rs1446666305
|
|
NM_001041.4(SI):c.1404G>A (p.Trp468Ter)
|
|
|
NM_001041.4(SI):c.1447A>C (p.Ile483Leu)
|
|
|
NM_001041.4(SI):c.1452T>C (p.Asp484=)
|
|
|
NM_001041.4(SI):c.1488A>T (p.Glu496Asp)
|
|
|
NM_001041.4(SI):c.1506T>G (p.Leu502=)
|
rs113511967
|
|
NM_001041.4(SI):c.1513-3C>A
|
|
|
NM_001041.4(SI):c.1543_1546delinsCTTTATTCCAGCTTTATA (p.Gly515fs)
|
|
|
NM_001041.4(SI):c.154C>T (p.Arg52Cys)
|
rs749466707
|
|
NM_001041.4(SI):c.1567A>C (p.Asn523His)
|
rs780055379
|
|
NM_001041.4(SI):c.1586C>T (p.Pro529Leu)
|
|
|
NM_001041.4(SI):c.1619A>G (p.Tyr540Cys)
|
rs1284511719
|
|
NM_001041.4(SI):c.1624A>T (p.Lys542Ter)
|
|
|
NM_001041.4(SI):c.1655G>A (p.Trp552Ter)
|
|
|
NM_001041.4(SI):c.1657G>A (p.Gly553Ser)
|
rs540565047
|
|
NM_001041.4(SI):c.1699G>A (p.Ala567Thr)
|
rs1441981061
|
|
NM_001041.4(SI):c.1756C>T (p.Leu586Phe)
|
|
|
NM_001041.4(SI):c.1795G>T (p.Ala599Ser)
|
|
|
NM_001041.4(SI):c.1799A>G (p.His600Arg)
|
|
|
NM_001041.4(SI):c.17T>G (p.Phe6Cys)
|
|
|
NM_001041.4(SI):c.1880del (p.Ile627fs)
|
|
|
NM_001041.4(SI):c.1903T>G (p.Cys635Gly)
|
|
|
NM_001041.4(SI):c.1910delinsGTCTTC (p.Phe637fs)
|
rs2473358472
|
|
NM_001041.4(SI):c.1914G>A (p.Val638=)
|
|
|
NM_001041.4(SI):c.2004+1G>A
|
|
|
NM_001041.4(SI):c.2005-3C>A
|
|
|
NM_001041.4(SI):c.2025dup (p.Gly676fs)
|
rs2108219188
|
|
NM_001041.4(SI):c.2028dup (p.Gln677fs)
|
rs751534972
|
|
NM_001041.4(SI):c.2042del (p.Leu681fs)
|
|
|
NM_001041.4(SI):c.2043G>T (p.Leu681Phe)
|
|
|
NM_001041.4(SI):c.2075G>A (p.Arg692His)
|
|
|
NM_001041.4(SI):c.207T>A (p.Asp69Glu)
|
|
|
NM_001041.4(SI):c.2111A>C (p.Tyr704Ser)
|
|
|
NM_001041.4(SI):c.212T>C (p.Val71Ala)
|
|
|
NM_001041.4(SI):c.2137G>C (p.Val713Leu)
|
|
|
NM_001041.4(SI):c.2159+5G>C
|
|
|
NM_001041.4(SI):c.2160-15T>G
|
|
|
NM_001041.4(SI):c.2224A>T (p.Ile742Phe)
|
|
|
NM_001041.4(SI):c.2233G>C (p.Val745Leu)
|
|
|
NM_001041.4(SI):c.2236C>G (p.Leu746Val)
|
|
|
NM_001041.4(SI):c.2244+14G>A
|
rs114458546
|
|
NM_001041.4(SI):c.2301T>C (p.Ser767=)
|
|
|
NM_001041.4(SI):c.2329C>T (p.Arg777Trp)
|
rs369923936
|
|
NM_001041.4(SI):c.2330G>A (p.Arg777Gln)
|
|
|
NM_001041.4(SI):c.2361A>C (p.Ile787=)
|
rs116791931
|
|
NM_001041.4(SI):c.2416A>C (p.Thr806Pro)
|
|
|
NM_001041.4(SI):c.2429G>A (p.Arg810His)
|
rs746487509
|
|
NM_001041.4(SI):c.2491_2492del (p.Phe831fs)
|
|
|
NM_001041.4(SI):c.2579T>A (p.Ile860Asn)
|
|
|
NM_001041.4(SI):c.2611A>G (p.Thr871Ala)
|
|
|
NM_001041.4(SI):c.2638A>G (p.Ile880Val)
|
|
|
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)
|
rs1221816681
|
|
NM_001041.4(SI):c.2660T>C (p.Val887Ala)
|
|
|
NM_001041.4(SI):c.2687del (p.Asn896fs)
|
|
|
NM_001041.4(SI):c.2715C>A (p.Phe905Leu)
|
|
|
NM_001041.4(SI):c.2716A>T (p.Thr906Ser)
|
|
|
NM_001041.4(SI):c.2728T>C (p.Ser910Pro)
|
|
|
NM_001041.4(SI):c.2736G>C (p.Gln912His)
|
rs746565689
|
|
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.273_274del (p.Gly92fs)
|
rs781470490
|
|
NM_001041.4(SI):c.2752G>A (p.Asp918Asn)
|
|
|
NM_001041.4(SI):c.2777A>G (p.Asn926Ser)
|
|
|
NM_001041.4(SI):c.2800A>C (p.Ile934Leu)
|
|
|
NM_001041.4(SI):c.281G>A (p.Cys94Tyr)
|
|
|
NM_001041.4(SI):c.2830T>C (p.Tyr944His)
|
|
|
NM_001041.4(SI):c.285G>A (p.Trp95Ter)
|
|
|
NM_001041.4(SI):c.2865C>A (p.Cys955Ter)
|
rs2108202378
|
|
NM_001041.4(SI):c.2875G>T (p.Gly959Cys)
|
rs2108202354
|
|
NM_001041.4(SI):c.2893-10G>A
|
rs2473296314
|
|
NM_001041.4(SI):c.2893-1G>A
|
rs2473296292
|
|
NM_001041.4(SI):c.2905T>G (p.Ser969Ala)
|
|
|
NM_001041.4(SI):c.2911G>A (p.Ala971Thr)
|
|
|
NM_001041.4(SI):c.2945_2946del (p.Ser982fs)
|
rs751263307
|
|
NM_001041.4(SI):c.2999A>G (p.Gln1000Arg)
|
|
|
NM_001041.4(SI):c.302C>G (p.Ser101Cys)
|
|
|
NM_001041.4(SI):c.3064G>A (p.Val1022Met)
|
rs201018248
|
|
NM_001041.4(SI):c.3075C>A (p.His1025Gln)
|
|
|
NM_001041.4(SI):c.3076A>G (p.Lys1026Glu)
|
rs2473295201
|
|
NM_001041.4(SI):c.3099+1G>C
|
rs775933206
|
|
NM_001041.4(SI):c.3123A>G (p.Arg1041=)
|
|
|
NM_001041.4(SI):c.3182G>C (p.Arg1061Thr)
|
|
|
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)
|
rs776569472
|
|
NM_001041.4(SI):c.3190G>A (p.Asp1064Asn)
|
rs764256380
|
|
NM_001041.4(SI):c.3207_3209delinsTT (p.Glu1069fs)
|
|
|
NM_001041.4(SI):c.3230G>A (p.Arg1077Gln)
|
|
|
NM_001041.4(SI):c.3240C>G (p.Ser1080Arg)
|
rs768521512
|
|
NM_001041.4(SI):c.3335_3336dup (p.Gly1113fs)
|
|
|
NM_001041.4(SI):c.3389C>T (p.Thr1130Ile)
|
|
|
NM_001041.4(SI):c.3430C>T (p.Leu1144Phe)
|
|
|
NM_001041.4(SI):c.3461T>C (p.Met1154Thr)
|
|
|
NM_001041.4(SI):c.3523G>T (p.Val1175Phe)
|
|
|
NM_001041.4(SI):c.3533A>G (p.Gln1178Arg)
|
|
|
NM_001041.4(SI):c.3547C>G (p.Leu1183Val)
|
|
|
NM_001041.4(SI):c.3548T>C (p.Leu1183Pro)
|
|
|
NM_001041.4(SI):c.3586_3587del (p.Met1196fs)
|
rs780535026
|
|
NM_001041.4(SI):c.3605C>T (p.Pro1202Leu)
|
|
|
NM_001041.4(SI):c.3629A>G (p.His1210Arg)
|
|
|
NM_001041.4(SI):c.3629dup (p.His1210fs)
|
|
|
NM_001041.4(SI):c.3631G>T (p.Glu1211Ter)
|
|
|
NM_001041.4(SI):c.3634-5del
|
rs750773954
|
|
NM_001041.4(SI):c.371T>C (p.Ile124Thr)
|
rs889224862
|
|
NM_001041.4(SI):c.3734C>A (p.Ala1245Asp)
|
|
|
NM_001041.4(SI):c.3734C>T (p.Ala1245Val)
|
|
|
NM_001041.4(SI):c.374-11del
|
rs11313475
|
|
NM_001041.4(SI):c.374-11dup
|
rs11313475
|
|
NM_001041.4(SI):c.374-7_374-4del
|
|
|
NM_001041.4(SI):c.374G>C (p.Gly125Ala)
|
|
|
NM_001041.4(SI):c.3750C>A (p.Asn1250Lys)
|
|
|
NM_001041.4(SI):c.3760-1G>A
|
|
|
NM_001041.4(SI):c.3820G>A (p.Ala1274Thr)
|
|
|
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)
|
rs1559990351
|
|
NM_001041.4(SI):c.3872G>A (p.Arg1291Lys)
|
|
|
NM_001041.4(SI):c.3880A>T (p.Ile1294Phe)
|
|
|
NM_001041.4(SI):c.3887T>C (p.Leu1296Pro)
|
|
|
NM_001041.4(SI):c.3943C>T (p.Gln1315Ter)
|
|
|
NM_001041.4(SI):c.3989G>T (p.Cys1330Phe)
|
|
|
NM_001041.4(SI):c.3G>A (p.Met1Ile)
|
rs1427661221
|
|
NM_001041.4(SI):c.404_405insCACCTACACTATTTGGAAATGACATCA (p.Ser135_Pro136insThrTyrThrIleTrpLysTer)
|
|
|
NM_001041.4(SI):c.4062+17C>G
|
rs1718837805
|
|
NM_001041.4(SI):c.4094dup (p.Phe1366fs)
|
rs1718661487
|
|
NM_001041.4(SI):c.4208_4223del (p.Asn1403fs)
|
rs1038499768
|
|
NM_001041.4(SI):c.4240G>C (p.Glu1414Gln)
|
rs145734588
|
|
NM_001041.4(SI):c.424G>C (p.Asp142His)
|
|
|
NM_001041.4(SI):c.431A>G (p.Asn144Ser)
|
|
|
NM_001041.4(SI):c.4346C>T (p.Ser1449Leu)
|
|
|
NM_001041.4(SI):c.4353G>C (p.Leu1451Phe)
|
|
|
NM_001041.4(SI):c.4359C>G (p.Tyr1453Ter)
|
|
|
NM_001041.4(SI):c.4381T>G (p.Trp1461Gly)
|
|
|
NM_001041.4(SI):c.4382G>A (p.Trp1461Ter)
|
|
|
NM_001041.4(SI):c.4545G>T (p.Met1515Ile)
|
|
|
NM_001041.4(SI):c.4561_4564del (p.Phe1521fs)
|
|
|
NM_001041.4(SI):c.4575+4A>G
|
|
|
NM_001041.4(SI):c.457del (p.Gln153fs)
|
|
|
NM_001041.4(SI):c.4602dup (p.Asn1535fs)
|
|
|
NM_001041.4(SI):c.4622T>C (p.Leu1541Pro)
|
|
|
NM_001041.4(SI):c.4642C>T (p.Leu1548Phe)
|
|
|
NM_001041.4(SI):c.4674C>G (p.His1558Gln)
|
|
|
NM_001041.4(SI):c.4692+4T>A
|
|
|
NM_001041.4(SI):c.469C>G (p.Arg157Gly)
|
|
|
NM_001041.4(SI):c.4727C>T (p.Ala1576Val)
|
|
|
NM_001041.4(SI):c.4759T>A (p.Tyr1587Asn)
|
|
|
NM_001041.4(SI):c.4763C>T (p.Thr1588Ile)
|
|
|
NM_001041.4(SI):c.4804G>T (p.Ala1602Ser)
|
|
|
NM_001041.4(SI):c.4817C>G (p.Thr1606Ser)
|
rs376062850
|
|
NM_001041.4(SI):c.4817C>T (p.Thr1606Ile)
|
rs376062850
|
|
NM_001041.4(SI):c.4839T>C (p.His1613=)
|
|
|
NM_001041.4(SI):c.4841+1G>A
|
|
|
NM_001041.4(SI):c.4842-3G>A
|
rs112107483
|
|
NM_001041.4(SI):c.4866G>C (p.Trp1622Cys)
|
|
|
NM_001041.4(SI):c.4894C>G (p.Pro1632Ala)
|
|
|
NM_001041.4(SI):c.4927-1G>A
|
|
|
NM_001041.4(SI):c.4937C>G (p.Thr1646Ser)
|
|
|
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.5050C>T (p.His1684Tyr)
|
|
|
NM_001041.4(SI):c.5053G>A (p.Val1685Ile)
|
|
|
NM_001041.4(SI):c.5056C>T (p.Arg1686Cys)
|
|
|
NM_001041.4(SI):c.5156T>C (p.Met1719Thr)
|
|
|
NM_001041.4(SI):c.518C>T (p.Pro173Leu)
|
|
|
NM_001041.4(SI):c.5198-20dup
|
rs566002300
|
|
NM_001041.4(SI):c.5261G>A (p.Ser1754Asn)
|
|
|
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)
|
rs145556619
|
|
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)
|
rs145556619
|
|
NM_001041.4(SI):c.5371G>T (p.Gly1791Ter)
|
|
|
NM_001041.4(SI):c.5385G>A (p.Ser1795=)
|
rs759867192
|
|
NM_001041.4(SI):c.545dup (p.Pro183fs)
|
|
|
NM_001041.4(SI):c.5464A>G (p.Ile1822Val)
|
rs965822078
|
|
NM_001041.4(SI):c.593C>T (p.Pro198Leu)
|
|
|
NM_001041.4(SI):c.635+2T>C
|
rs1185991890
|
|
NM_001041.4(SI):c.636-22_636-19del
|
rs558953371
|
|
NM_001041.4(SI):c.650T>C (p.Ile217Thr)
|
|
|
NM_001041.4(SI):c.675G>A (p.Gln225=)
|
|
|
NM_001041.4(SI):c.682C>T (p.Gln228Ter)
|
|
|
NM_001041.4(SI):c.686T>A (p.Ile229Asn)
|
|
|
NM_001041.4(SI):c.70G>A (p.Ala24Thr)
|
|
|
NM_001041.4(SI):c.727G>A (p.Glu243Lys)
|
|
|
NM_001041.4(SI):c.751C>T (p.His251Tyr)
|
|
|
NM_001041.4(SI):c.752A>T (p.His251Leu)
|
rs768888806
|
|
NM_001041.4(SI):c.793del (p.Gln265fs)
|
rs1714177959
|
|
NM_001041.4(SI):c.803G>C (p.Gly268Ala)
|
|
|
NM_001041.4(SI):c.822A>T (p.Leu274Phe)
|
|
|
NM_001041.4(SI):c.848G>A (p.Cys283Tyr)
|
|
|
NM_001041.4(SI):c.853G>T (p.Glu285Ter)
|
rs758259365
|
|
NM_001041.4(SI):c.886_887dup (p.Leu296fs)
|
|
|
NM_001041.4(SI):c.891G>T (p.Met297Ile)
|
|
|
NM_001041.4(SI):c.916A>C (p.Ile306Leu)
|
|
|
NM_001041.4(SI):c.938C>T (p.Thr313Ile)
|
|
|
NM_001064.4(TKT):c.458T>C (p.Leu153Pro)
|
|
|
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)
|
rs868289171
|
|
NM_001160372.4(TRAPPC9):c.2263G>T (p.Val755Phe)
|
rs773051579
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1066A>T (p.Ser356Cys)
|
|
|
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.1217C>A (p.Ala406Asp)
|
|
|
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.13GGCTAT[3] (p.5GY[3])
|
rs782663171
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)
|
rs370839177
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
NM_001164277.2(SLC37A4):c.434T>C (p.Met145Thr)
|
|
|
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)
|
rs775311483
|
|
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His)
|
rs1943676569
|
|
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.872C>G (p.Ala291Gly)
|
rs200147602
|
|
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_001166686.2(PFKM):c.62_65del (p.Val21fs)
|
|
|
NM_001243177.4(ALDOA):c.274+3G>A
|
|
|
NM_001352514.2(HLCS):c.1162G>T (p.Gly388Trp)
|
|
|
NM_001352514.2(HLCS):c.1418G>A (p.Gly473Glu)
|
|
|
NM_001352514.2(HLCS):c.1493del (p.Asn498fs)
|
|
|
NM_001352514.2(HLCS):c.1600dup (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1620+2T>G
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
rs2517424327
|
|
NM_001352514.2(HLCS):c.1648_1649insATAAGAGGGATATG (p.Leu550fs)
|
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.1892+2T>C
|
|
|
NM_001352514.2(HLCS):c.1935dup (p.Ala646fs)
|
|
|
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
|
rs2089611303
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)
|
rs1555957134
|
|
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
|
rs1288729804
|
|
NM_001360016.2(G6PD):c.1028_1029del (p.Tyr343fs)
|
|
|
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
|
rs782098548
|
|
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
|
rs78365220
|
|
NM_001360016.2(G6PD):c.679C>G (p.Arg227Gly)
|
|
|
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)
|
rs115887120
|
|
NM_001366110.1(PAX4):c.380T>A (p.Val127Asp)
|
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.1134delinsAA (p.Met378fs)
|
|
|
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.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)
|
rs779141922
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1270G>T (p.Asp424Tyr)
|
|
|
NM_001370658.1(BTD):c.1499del (p.Phe500fs)
|
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)
|
rs1553652171
|
|
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)
|
rs397514352
|
|
NM_001370658.1(BTD):c.346del (p.Gln116fs)
|
rs1404904752
|
|
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
|
rs2125486425
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.3G>A (p.Met1Ile)
|
|
|
NM_001370658.1(BTD):c.430del (p.Arg144fs)
|
rs2471509283
|
|
NM_001370658.1(BTD):c.499C>T (p.Pro167Ser)
|
rs397507173
|
|
NM_001370658.1(BTD):c.570C>A (p.Tyr190Ter)
|
|
|
NM_001370658.1(BTD):c.577del (p.His193fs)
|
rs780874850
|
|
NM_001370658.1(BTD):c.70_71del (p.Thr24fs)
|
rs2471439812
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.782C>T (p.Ala261Val)
|
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
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.437G>C (p.Gly146Ala)
|
|
|
NM_001715.3(BLK):c.591G>T (p.Ser197=)
|
rs140834602
|
|
NM_001807.6(CEL):c.109A>C (p.Asn37His)
|
|
|
NM_001807.6(CEL):c.110A>G (p.Asn37Ser)
|
|
|
NM_001807.6(CEL):c.1294A>G (p.Lys432Glu)
|
|
|
NM_001807.6(CEL):c.1296G>T (p.Lys432Asn)
|
|
|
NM_001807.6(CEL):c.1327C>T (p.Arg443Trp)
|
|
|
NM_001807.6(CEL):c.1341C>A (p.Tyr447Ter)
|
|
|
NM_001807.6(CEL):c.1347A>T (p.Lys449Asn)
|
|
|
NM_001807.6(CEL):c.1353G>A (p.Val451=)
|
|
|
NM_001807.6(CEL):c.1360G>A (p.Asp454Asn)
|
|
|
NM_001807.6(CEL):c.1398del (p.Phe467fs)
|
|
|
NM_001807.6(CEL):c.1421G>A (p.Arg474Gln)
|
|
|
NM_001807.6(CEL):c.1427A>C (p.Gln476Pro)
|
|
|
NM_001807.6(CEL):c.1447G>A (p.Ala483Thr)
|
|
|
NM_001807.6(CEL):c.1456G>A (p.Ala486Thr)
|
|
|
NM_001807.6(CEL):c.1468A>C (p.Asn490His)
|
|
|
NM_001807.6(CEL):c.1510G>A (p.Val504Met)
|
|
|
NM_001807.6(CEL):c.1537A>G (p.Thr513Ala)
|
|
|
NM_001807.6(CEL):c.1538C>T (p.Thr513Met)
|
|
|
NM_001807.6(CEL):c.1539G>A (p.Thr513=)
|
|
|
NM_001807.6(CEL):c.1564A>G (p.Thr522Ala)
|
|
|
NM_001807.6(CEL):c.1643C>A (p.Ala548Glu)
|
rs529664291
|
|
NM_001807.6(CEL):c.1659C>G (p.Thr553=)
|
rs78256304
|
|
NM_001807.6(CEL):c.166G>A (p.Ala56Thr)
|
|
|
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer)
|
rs2119070291
|
|
NM_001807.6(CEL):c.1674_1706del (p.557ATPVPPTGDSE[1])
|
|
|
NM_001807.6(CEL):c.1676C>T (p.Pro559Leu)
|
|
|
NM_001807.6(CEL):c.1700_1738delinsGGGCCC (p.Glu567_Ala580delinsGlyAlaPro)
|
|
|
NM_001807.6(CEL):c.1705_1737del (p.Thr569_Thr579del)
|
|
|
NM_001807.6(CEL):c.1723G>C (p.Gly575Arg)
|
|
|
NM_001807.6(CEL):c.1727A>G (p.Asp576Gly)
|
|
|
NM_001807.6(CEL):c.1759G>A (p.Asp587Asn)
|
|
|
NM_001807.6(CEL):c.1771C>T (p.Pro591Ser)
|
|
|
NM_001807.6(CEL):c.2080C>T (p.Pro694Ser)
|
|
|
NM_001807.6(CEL):c.209G>T (p.Gly70Val)
|
|
|
NM_001807.6(CEL):c.2137C>G (p.Pro713Ala)
|
|
|
NM_001807.6(CEL):c.2139_2171del (p.Gly721_Ser731del)
|
|
|
NM_001807.6(CEL):c.2139dup (p.Val714fs)
|
|
|
NM_001807.6(CEL):c.2159C>T (p.Ser720Phe)
|
|
|
NM_001807.6(CEL):c.2161_2226del (p.Gly721_Ser742del)
|
|
|
NM_001807.6(CEL):c.2184_2216del (p.Gly729_Thr739del)
|
|
|
NM_001807.6(CEL):c.2184_2216dup (p.Thr739_Asp740insGlyAspSerGluAlaAlaProValProProThr)
|
|
|
NM_001807.6(CEL):c.2198_2230del (p.Ala733_Lys743del)
|
|
|
NM_001807.6(CEL):c.262A>G (p.Thr88Ala)
|
|
|
NM_001807.6(CEL):c.265A>G (p.Ile89Val)
|
rs746003254
|
|
NM_001807.6(CEL):c.289G>T (p.Asp97Tyr)
|
|
|
NM_001807.6(CEL):c.302T>C (p.Leu101Pro)
|
|
|
NM_001807.6(CEL):c.313A>G (p.Ile105Val)
|
|
|
NM_001807.6(CEL):c.353_358delinsGGCCCA (p.Leu118_Val120delinsArgProIle)
|
|
|
NM_001807.6(CEL):c.374A>G (p.Tyr125Cys)
|
|
|
NM_001807.6(CEL):c.427T>C (p.Tyr143His)
|
|
|
NM_001807.6(CEL):c.442G>A (p.Glu148Lys)
|
|
|
NM_001807.6(CEL):c.457C>T (p.Arg153Cys)
|
|
|
NM_001807.6(CEL):c.466_479del (p.Val156fs)
|
rs572853045
|
|
NM_001807.6(CEL):c.481T>C (p.Phe161Leu)
|
|
|
NM_001807.6(CEL):c.485A>G (p.Asn162Ser)
|
|
|
NM_001807.6(CEL):c.490C>T (p.Arg164Cys)
|
|
|
NM_001807.6(CEL):c.500C>T (p.Pro167Leu)
|
|
|
NM_001807.6(CEL):c.537A>G (p.Pro179=)
|
|
|
NM_001807.6(CEL):c.538+5G>A
|
|
|
NM_001807.6(CEL):c.538+5G>C
|
|
|
NM_001807.6(CEL):c.553C>T (p.Arg185Trp)
|
|
|
NM_001807.6(CEL):c.610dup (p.Asp204fs)
|
|
|
NM_001807.6(CEL):c.656G>C (p.Ser219Thr)
|
|
|
NM_001807.6(CEL):c.669+6G>A
|
|
|
NM_001807.6(CEL):c.67-3C>A
|
|
|
NM_001807.6(CEL):c.670-1G>C
|
|
|
NM_001807.6(CEL):c.678C>T (p.Ser226=)
|
|
|
NM_001807.6(CEL):c.718A>G (p.Ser240Gly)
|
rs2490428937
|
|
NM_001807.6(CEL):c.721G>A (p.Gly241Ser)
|
|
|
NM_001807.6(CEL):c.724G>A (p.Val242Met)
|
|
|
NM_001807.6(CEL):c.728C>T (p.Ala243Val)
|
|
|
NM_001807.6(CEL):c.741G>T (p.Trp247Cys)
|
|
|
NM_001807.6(CEL):c.758C>T (p.Pro253Leu)
|
|
|
NM_001807.6(CEL):c.779T>A (p.Val260Glu)
|
|
|
NM_001807.6(CEL):c.814G>A (p.Ala272Thr)
|
|
|
NM_001807.6(CEL):c.828G>A (p.Gln276=)
|
|
|
NM_001807.6(CEL):c.847C>G (p.Pro283Ala)
|
|
|
NM_001807.6(CEL):c.850C>G (p.Arg284Gly)
|
rs369868891
|
|
NM_001807.6(CEL):c.850C>T (p.Arg284Ter)
|
|
|
NM_001807.6(CEL):c.866C>T (p.Ala289Val)
|
|
|
NM_001807.6(CEL):c.869A>G (p.Tyr290Cys)
|
|
|
NM_001807.6(CEL):c.893A>G (p.Glu298Gly)
|
|
|
NM_001807.6(CEL):c.99G>C (p.Val33=)
|
rs199971842
|
|
NM_001931.5(DLAT):c.1030del (p.Cys344fs)
|
|
|
NM_001931.5(DLAT):c.1515-1G>T
|
|
|
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter)
|
rs119461974
|
|
NM_002076.4(GNS):c.1225C>T (p.Arg409Ter)
|
rs2539505252
|
|
NM_002076.4(GNS):c.1249C>T (p.Gln417Ter)
|
rs2136237909
|
|
NM_002076.4(GNS):c.1327_1328del (p.Val443fs)
|
|
|
NM_002076.4(GNS):c.1393C>T (p.Gln465Ter)
|
|
|
NM_002076.4(GNS):c.252+1G>T
|
rs368414819
|
|
NM_002076.4(GNS):c.257_258del (p.Val86fs)
|
rs1355457071
|
|
NM_002076.4(GNS):c.587del (p.Gly196fs)
|
|
|
NM_002076.4(GNS):c.802del (p.Trp268fs)
|
|
|
NM_002103.5(GYS1):c.1111C>T (p.Arg371Trp)
|
|
|
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_002294.3(LAMP2):c.961T>C (p.Trp321Arg)
|
rs104894859
|
|
NM_002500.5(NEUROD1):c.1019C>T (p.Ser340Leu)
|
|
|
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val)
|
rs774325551
|
|
NM_002500.5(NEUROD1):c.113A>G (p.Lys38Arg)
|
|
|
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)
|
rs116321775
|
|
NM_002500.5(NEUROD1):c.136A>G (p.Met46Val)
|
|
|
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=)
|
rs2105595687
|
|
NM_002500.5(NEUROD1):c.19G>A (p.Glu7Lys)
|
|
|
NM_002500.5(NEUROD1):c.205G>A (p.Glu69Lys)
|
|
|
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del)
|
rs1190828671
|
|
NM_002500.5(NEUROD1):c.254G>A (p.Gly85Asp)
|
|
|
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg)
|
rs758515206
|
|
NM_002500.5(NEUROD1):c.278A>C (p.Lys93Thr)
|
|
|
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His)
|
rs1559135426
|
|
NM_002500.5(NEUROD1):c.29T>C (p.Leu10Pro)
|
rs142156702
|
|
NM_002500.5(NEUROD1):c.301T>A (p.Leu101Met)
|
|
|
NM_002500.5(NEUROD1):c.310A>C (p.Met104Leu)
|
|
|
NM_002500.5(NEUROD1):c.425C>G (p.Thr142Ser)
|
|
|
NM_002500.5(NEUROD1):c.451T>C (p.Trp151Arg)
|
|
|
NM_002500.5(NEUROD1):c.487C>T (p.Pro163Ser)
|
rs1225264254
|
|
NM_002500.5(NEUROD1):c.542C>T (p.Thr181Ile)
|
|
|
NM_002500.5(NEUROD1):c.603G>C (p.Gln201His)
|
|
|
NM_002500.5(NEUROD1):c.614C>A (p.Pro205His)
|
rs560115414
|
|
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.620T>C (p.Leu207Pro)
|
rs2468610018
|
|
NM_002500.5(NEUROD1):c.631A>G (p.Ser211Gly)
|
|
|
NM_002500.5(NEUROD1):c.714T>G (p.His238Gln)
|
rs770828405
|
|
NM_002500.5(NEUROD1):c.715G>A (p.Val239Ile)
|
|
|
NM_002500.5(NEUROD1):c.722A>C (p.His241Pro)
|
|
|
NM_002500.5(NEUROD1):c.733C>A (p.Pro245Thr)
|
|
|
NM_002500.5(NEUROD1):c.790T>C (p.Cys264Arg)
|
|
|
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser)
|
rs1029071008
|
|
NM_002500.5(NEUROD1):c.827C>T (p.Pro276Leu)
|
|
|
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys)
|
rs773755753
|
|
NM_002500.5(NEUROD1):c.950T>C (p.Ile317Thr)
|
|
|
NM_002591.4(PCK1):c.1674C>T (p.Ile558=)
|
rs115841045
|
|
NM_002637.4(PHKA1):c.1174C>T (p.Arg392Ter)
|
rs1556299510
|
|
NM_002637.4(PHKA1):c.1345_1346del (p.Glu449fs)
|
rs2147747770
|
|
NM_002637.4(PHKA1):c.1960+1G>T
|
|
|
NM_002637.4(PHKA1):c.2137+1G>A
|
|
|
NM_002637.4(PHKA1):c.3134C>A (p.Ser1045Ter)
|
|
|
NM_002863.5(PYGL):c.1142del (p.Leu381fs)
|
|
|
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)
|
rs2050437440
|
|
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)
|
rs539898848
|
|
NM_002863.5(PYGL):c.2181C>G (p.Tyr727Ter)
|
|
|
NM_002863.5(PYGL):c.2254dup (p.Ser752fs)
|
|
|
NM_002863.5(PYGL):c.424+1G>C
|
|
|
NM_003041.4(SLC5A2):c.1004G>A (p.Ser335Asn)
|
|
|
NM_003041.4(SLC5A2):c.1029G>A (p.Val343=)
|
|
|
NM_003041.4(SLC5A2):c.103C>G (p.Leu35Val)
|
|
|
NM_003041.4(SLC5A2):c.1048G>A (p.Val350Met)
|
|
|
NM_003041.4(SLC5A2):c.1066G>A (p.Gly356Ser)
|
|
|
NM_003041.4(SLC5A2):c.1068C>T (p.Gly356=)
|
|
|
NM_003041.4(SLC5A2):c.1076T>C (p.Val359Ala)
|
|
|
NM_003041.4(SLC5A2):c.1114A>G (p.Lys372Glu)
|
|
|
NM_003041.4(SLC5A2):c.1117C>G (p.Leu373Val)
|
|
|
NM_003041.4(SLC5A2):c.1129+3A>C
|
|
|
NM_003041.4(SLC5A2):c.1130-1G>A
|
|
|
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del)
|
rs770588592
|
|
NM_003041.4(SLC5A2):c.1157T>C (p.Met386Thr)
|
|
|
NM_003041.4(SLC5A2):c.115G>A (p.Val39Ile)
|
|
|
NM_003041.4(SLC5A2):c.1171A>G (p.Met391Val)
|
|
|
NM_003041.4(SLC5A2):c.1175C>T (p.Ser392Phe)
|
|
|
NM_003041.4(SLC5A2):c.1184C>T (p.Ala395Val)
|
|
|
NM_003041.4(SLC5A2):c.1205G>A (p.Ser402Asn)
|
|
|
NM_003041.4(SLC5A2):c.1235G>A (p.Arg412His)
|
|
|
NM_003041.4(SLC5A2):c.1253G>C (p.Gly418Ala)
|
|
|
NM_003041.4(SLC5A2):c.1262_1280dup (p.Leu428fs)
|
|
|
NM_003041.4(SLC5A2):c.1281-2A>G
|
|
|
NM_003041.4(SLC5A2):c.1319G>A (p.Trp440Ter)
|
|
|
NM_003041.4(SLC5A2):c.1339G>T (p.Ala447Ser)
|
|
|
NM_003041.4(SLC5A2):c.1343A>G (p.Gln448Arg)
|
|
|
NM_003041.4(SLC5A2):c.1361del (p.Asp454fs)
|
|
|
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu)
|
rs2082529261
|
|
NM_003041.4(SLC5A2):c.1420_1434dup (p.Pro478_Arg479insAlaLeuPheValPro)
|
|
|
NM_003041.4(SLC5A2):c.1429G>C (p.Val477Leu)
|
|
|
NM_003041.4(SLC5A2):c.1450-1G>A
|
|
|
NM_003041.4(SLC5A2):c.1470C>G (p.Ile490Met)
|
|
|
NM_003041.4(SLC5A2):c.1475G>T (p.Gly492Val)
|
|
|
NM_003041.4(SLC5A2):c.1481T>A (p.Leu494Gln)
|
|
|
NM_003041.4(SLC5A2):c.1495C>A (p.Arg499Ser)
|
|
|
NM_003041.4(SLC5A2):c.1509G>C (p.Glu503Asp)
|
|
|
NM_003041.4(SLC5A2):c.1524G>A (p.Ser508=)
|
|
|
NM_003041.4(SLC5A2):c.1525G>A (p.Gly509Ser)
|
|
|
NM_003041.4(SLC5A2):c.1540C>T (p.Pro514Ser)
|
|
|
NM_003041.4(SLC5A2):c.1552_1573dup (p.His525fs)
|
rs987447860
|
|
NM_003041.4(SLC5A2):c.1566C>A (p.Cys522Ter)
|
rs199795513
|
|
NM_003041.4(SLC5A2):c.1576T>C (p.Tyr526His)
|
|
|
NM_003041.4(SLC5A2):c.1577A>G (p.Tyr526Cys)
|
|
|
NM_003041.4(SLC5A2):c.158G>A (p.Gly53Asp)
|
|
|
NM_003041.4(SLC5A2):c.1591A>G (p.Ile531Val)
|
|
|
NM_003041.4(SLC5A2):c.1601TCT[1] (p.Phe535del)
|
|
|
NM_003041.4(SLC5A2):c.1616T>G (p.Leu539Arg)
|
rs751122798
|
|
NM_003041.4(SLC5A2):c.1628C>T (p.Thr543Met)
|
|
|
NM_003041.4(SLC5A2):c.1629G>A (p.Thr543=)
|
|
|
NM_003041.4(SLC5A2):c.1647G>C (p.Ala549=)
|
|
|
NM_003041.4(SLC5A2):c.164A>C (p.Tyr55Ser)
|
|
|
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr)
|
rs772983040
|
|
NM_003041.4(SLC5A2):c.1658G>T (p.Arg553Ile)
|
|
|
NM_003041.4(SLC5A2):c.1665C>G (p.His555Gln)
|
|
|
NM_003041.4(SLC5A2):c.1673G>A (p.Arg558His)
|
|
|
NM_003041.4(SLC5A2):c.167T>G (p.Phe56Cys)
|
|
|
NM_003041.4(SLC5A2):c.1691G>A (p.Arg564Gln)
|
|
|
NM_003041.4(SLC5A2):c.1711del (p.Glu571fs)
|
|
|
NM_003041.4(SLC5A2):c.1753G>C (p.Val585Leu)
|
|
|
NM_003041.4(SLC5A2):c.17A>T (p.Glu6Val)
|
|
|
NM_003041.4(SLC5A2):c.1822C>T (p.Arg608Cys)
|
|
|
NM_003041.4(SLC5A2):c.1837T>C (p.Trp613Arg)
|
|
|
NM_003041.4(SLC5A2):c.1851G>A (p.Met617Ile)
|
|
|
NM_003041.4(SLC5A2):c.1862G>C (p.Gly621Ala)
|
|
|
NM_003041.4(SLC5A2):c.1895_1900dup (p.Ala633_Ala634insGluAla)
|
|
|
NM_003041.4(SLC5A2):c.1901C>T (p.Ala634Val)
|
|
|
NM_003041.4(SLC5A2):c.190T>C (p.Trp64Arg)
|
|
|
NM_003041.4(SLC5A2):c.1944C>G (p.Ser648Arg)
|
|
|
NM_003041.4(SLC5A2):c.1951C>G (p.Arg651Gly)
|
|
|
NM_003041.4(SLC5A2):c.198+6A>G
|
|
|
NM_003041.4(SLC5A2):c.1990G>A (p.Ala664Thr)
|
|
|
NM_003041.4(SLC5A2):c.2T>C (p.Met1Thr)
|
|
|
NM_003041.4(SLC5A2):c.313G>A (p.Val105Met)
|
|
|
NM_003041.4(SLC5A2):c.333G>A (p.Trp111Ter)
|
|
|
NM_003041.4(SLC5A2):c.364G>T (p.Val122Phe)
|
|
|
NM_003041.4(SLC5A2):c.368T>C (p.Ile123Thr)
|
|
|
NM_003041.4(SLC5A2):c.381G>T (p.Gln127His)
|
|
|
NM_003041.4(SLC5A2):c.394C>A (p.Arg132Ser)
|
rs768579234
|
|
NM_003041.4(SLC5A2):c.394C>T (p.Arg132Cys)
|
|
|
NM_003041.4(SLC5A2):c.409C>T (p.Arg137Cys)
|
|
|
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His)
|
rs1378076282
|
|
NM_003041.4(SLC5A2):c.439C>T (p.Leu147Phe)
|
|
|
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu)
|
rs146552221
|
|
NM_003041.4(SLC5A2):c.453C>G (p.Ile151Met)
|
|
|
NM_003041.4(SLC5A2):c.47A>G (p.Gln16Arg)
|
|
|
NM_003041.4(SLC5A2):c.524A>C (p.Tyr175Ser)
|
|
|
NM_003041.4(SLC5A2):c.526G>A (p.Ala176Thr)
|
|
|
NM_003041.4(SLC5A2):c.532G>A (p.Val178Ile)
|
|
|
NM_003041.4(SLC5A2):c.541C>T (p.Leu181Phe)
|
|
|
NM_003041.4(SLC5A2):c.554C>T (p.Thr185Ile)
|
|
|
NM_003041.4(SLC5A2):c.556A>G (p.Met186Val)
|
|
|
NM_003041.4(SLC5A2):c.566C>T (p.Thr189Met)
|
|
|
NM_003041.4(SLC5A2):c.567G>A (p.Thr189=)
|
|
|
NM_003041.4(SLC5A2):c.629G>C (p.Gly210Ala)
|
|
|
NM_003041.4(SLC5A2):c.634G>A (p.Ala212Thr)
|
|
|
NM_003041.4(SLC5A2):c.648G>A (p.Met216Ile)
|
|
|
NM_003041.4(SLC5A2):c.650G>A (p.Gly217Asp)
|
|
|
NM_003041.4(SLC5A2):c.656-3C>T
|
|
|
NM_003041.4(SLC5A2):c.67C>A (p.Pro23Thr)
|
|
|
NM_003041.4(SLC5A2):c.739G>T (p.Ala247Ser)
|
|
|
NM_003041.4(SLC5A2):c.773C>G (p.Pro258Arg)
|
|
|
NM_003041.4(SLC5A2):c.793C>G (p.Leu265Val)
|
|
|
NM_003041.4(SLC5A2):c.802C>T (p.His268Tyr)
|
|
|
NM_003041.4(SLC5A2):c.819T>G (p.Asp273Glu)
|
|
|
NM_003041.4(SLC5A2):c.843C>A (p.Leu281=)
|
rs1221617003
|
|
NM_003041.4(SLC5A2):c.845G>A (p.Gly282Glu)
|
|
|
NM_003041.4(SLC5A2):c.885+15C>T
|
|
|
NM_003041.4(SLC5A2):c.886-13G>T
|
|
|
NM_003041.4(SLC5A2):c.889A>T (p.Ile297Phe)
|
|
|
NM_003041.4(SLC5A2):c.892G>A (p.Val298Met)
|
|
|
NM_003041.4(SLC5A2):c.917G>A (p.Ser306Asn)
|
|
|
NM_003041.4(SLC5A2):c.923C>G (p.Thr308Ser)
|
|
|
NM_003041.4(SLC5A2):c.935C>T (p.Ala312Val)
|
|
|
NM_003041.4(SLC5A2):c.962A>G (p.Lys321Arg)
|
|
|
NM_003041.4(SLC5A2):c.983T>G (p.Met328Arg)
|
|
|
NM_003041.4(SLC5A2):c.996C>T (p.Gly332=)
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[8]
|
rs149491709
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
|
rs1566721633
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
|
rs2504252308
|
|
NM_003384.3(VRK1):c.287-2A>G
|
|
|
NM_003384.3(VRK1):c.3dup (p.Pro2fs)
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)
|
rs762979613
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.882del (p.Asn294fs)
|
|
|
NM_003384.3(VRK1):c.883_886del (p.Lys295fs)
|
rs779282547
|
|
NM_003477.3(PDHX):c.1182+2T>C
|
|
|
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)
|
rs1064796807
|
|
NM_003477.3(PDHX):c.657_669del (p.Val220fs)
|
|
|
NM_003477.3(PDHX):c.711dup (p.Thr238fs)
|
rs776567343
|
|
NM_003477.3(PDHX):c.798_800delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly273fs)
|
rs2494721611
|
|
NM_003597.5(KLF11):c.-31G>A
|
rs886054721
|
|
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.1120G>A (p.Val374Met)
|
|
|
NM_003597.5(KLF11):c.42+18C>G
|
rs1476684022
|
|
NM_003597.5(KLF11):c.870C>T (p.Ile290=)
|
rs149235463
|
|
NM_003805.5(CRADD):c.21A>G (p.Gln7=)
|
|
|
NM_003805.5(CRADD):c.285dup (p.Asp96fs)
|
rs1555213545
|
|
NM_003805.5(CRADD):c.393G>A (p.Trp131Ter)
|
rs2540635374
|
|
NM_003805.5(CRADD):c.50del (p.Gly17fs)
|
rs1207931375
|
|
NM_004130.4(GYG1):c.452A>T (p.His151Leu)
|
rs35054019
|
|
NM_004130.4(GYG1):c.671A>G (p.Tyr224Cys)
|
|
|
NM_004563.4(PCK2):c.1469-3dup
|
rs61497654
|
|
NM_004830.4(MED23):c.2062A>G (p.Ile688Val)
|
|
|
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
|
rs2133788907
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005327.7(HADH):c.132+1G>A
|
|
|
NM_005566.4(LDHA):c.136_137delinsCT (p.Asp46Leu)
|
|
|
NM_005566.4(LDHA):c.146C>A (p.Ala49Asp)
|
|
|
NM_005566.4(LDHA):c.207C>G (p.Ser69Arg)
|
|
|
NM_005566.4(LDHA):c.217A>G (p.Arg73Gly)
|
|
|
NM_005566.4(LDHA):c.328G>A (p.Val110Ile)
|
|
|
NM_005566.4(LDHA):c.32A>G (p.Asn11Ser)
|
|
|
NM_005566.4(LDHA):c.334C>T (p.Arg112Cys)
|
rs199521486
|
|
NM_005566.4(LDHA):c.371T>C (p.Val124Ala)
|
|
|
NM_005566.4(LDHA):c.454G>C (p.Gly152Arg)
|
|
|
NM_005566.4(LDHA):c.470G>A (p.Arg157His)
|
rs368815124
|
|
NM_005566.4(LDHA):c.476T>C (p.Ile159Thr)
|
|
|
NM_005566.4(LDHA):c.512G>A (p.Arg171His)
|
|
|
NM_005566.4(LDHA):c.53C>G (p.Thr18Ser)
|
rs537487381
|
|
NM_005566.4(LDHA):c.53C>T (p.Thr18Ile)
|
rs537487381
|
|
NM_005566.4(LDHA):c.550A>G (p.Ser184Gly)
|
|
|
NM_005566.4(LDHA):c.556C>T (p.His186Tyr)
|
|
|
NM_005566.4(LDHA):c.686_687del (p.Glu229fs)
|
|
|
NM_005566.4(LDHA):c.710+1del
|
|
|
NM_005566.4(LDHA):c.711-6A>T
|
|
|
NM_005566.4(LDHA):c.778G>C (p.Ala260Pro)
|
|
|
NM_005566.4(LDHA):c.796A>C (p.Asn266His)
|
|
|
NM_005566.4(LDHA):c.809T>C (p.Val270Ala)
|
|
|
NM_005566.4(LDHA):c.823A>T (p.Thr275Ser)
|
|
|
NM_005566.4(LDHA):c.940G>C (p.Ala314Pro)
|
|
|
NM_005566.4(LDHA):c.965C>T (p.Thr322Ile)
|
|
|
NM_005609.4(PYGM):c.1000-16_1000-9del
|
|
|
NM_005609.4(PYGM):c.1005del (p.Ile336fs)
|
|
|
NM_005609.4(PYGM):c.100C>A (p.Arg34=)
|
rs531748591
|
|
NM_005609.4(PYGM):c.1022C>A (p.Thr341Asn)
|
|
|
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
|
rs2496659888
|
|
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
|
rs2058377004
|
|
NM_005609.4(PYGM):c.1145C>T (p.Pro382Leu)
|
|
|
NM_005609.4(PYGM):c.1195C>T (p.Arg399Trp)
|
|
|
NM_005609.4(PYGM):c.119_120del (p.Leu40fs)
|
|
|
NM_005609.4(PYGM):c.1220T>G (p.Ile407Ser)
|
|
|
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys)
|
rs764712114
|
|
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp)
|
rs11231866
|
|
NM_005609.4(PYGM):c.125del (p.Lys42fs)
|
rs2496675458
|
|
NM_005609.4(PYGM):c.1265_1275del (p.Asp422fs)
|
|
|
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys)
|
rs750700202
|
|
NM_005609.4(PYGM):c.1331A>G (p.His444Arg)
|
|
|
NM_005609.4(PYGM):c.1346G>A (p.Gly449Glu)
|
|
|
NM_005609.4(PYGM):c.1346G>C (p.Gly449Ala)
|
|
|
NM_005609.4(PYGM):c.1404-1G>C
|
|
|
NM_005609.4(PYGM):c.1406T>C (p.Phe469Ser)
|
|
|
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)
|
rs886041476
|
|
NM_005609.4(PYGM):c.1468C>G (p.Arg490Gly)
|
|
|
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)
|
rs2496655165
|
|
NM_005609.4(PYGM):c.1477C>A (p.Leu493Met)
|
|
|
NM_005609.4(PYGM):c.1495G>A (p.Gly499Arg)
|
|
|
NM_005609.4(PYGM):c.1519-2A>G
|
|
|
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del)
|
rs1325298827
|
|
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)
|
rs2058363627
|
|
NM_005609.4(PYGM):c.1614G>A (p.Val538=)
|
rs747854789
|
|
NM_005609.4(PYGM):c.1620+1G>A
|
rs1256894448
|
|
NM_005609.4(PYGM):c.1620G>T (p.Gln540His)
|
|
|
NM_005609.4(PYGM):c.1621-11T>G
|
|
|
NM_005609.4(PYGM):c.1629G>T (p.Lys543Asn)
|
|
|
NM_005609.4(PYGM):c.1639G>T (p.Ala547Ser)
|
|
|
NM_005609.4(PYGM):c.164_168del (p.Ala55fs)
|
rs780193588
|
|
NM_005609.4(PYGM):c.1722T>A (p.Tyr574Ter)
|
rs119103260
|
|
NM_005609.4(PYGM):c.1744C>T (p.Leu582Phe)
|
|
|
NM_005609.4(PYGM):c.1810G>C (p.Val604Leu)
|
|
|
NM_005609.4(PYGM):c.1827+1G>C
|
rs1057517442
|
|
NM_005609.4(PYGM):c.1846A>G (p.Met616Val)
|
|
|
NM_005609.4(PYGM):c.1913G>A (p.Gly638Asp)
|
|
|
NM_005609.4(PYGM):c.1969+1G>A
|
rs753181427
|
|
NM_005609.4(PYGM):c.1969G>T (p.Val657Leu)
|
|
|
NM_005609.4(PYGM):c.1970-1G>C
|
|
|
NM_005609.4(PYGM):c.199C>T (p.Arg67Cys)
|
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005609.4(PYGM):c.1_12del (p.Met1_Pro4del)
|
|
|
NM_005609.4(PYGM):c.2009C>A (p.Ala670Glu)
|
|
|
NM_005609.4(PYGM):c.2040_2041insCC (p.Lys681fs)
|
|
|
NM_005609.4(PYGM):c.2042A>T (p.Lys681Met)
|
|
|
NM_005609.4(PYGM):c.2044T>C (p.Phe682Leu)
|
|
|
NM_005609.4(PYGM):c.2049G>C (p.Met683Ile)
|
|
|
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)
|
rs1057516349
|
|
NM_005609.4(PYGM):c.2075_2076delinsAAA (p.Thr692fs)
|
|
|
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu)
|
rs773543072
|
|
NM_005609.4(PYGM):c.2086G>A (p.Ala696Thr)
|
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg)
|
rs377713922
|
|
NM_005609.4(PYGM):c.212C>T (p.Thr71Met)
|
|
|
NM_005609.4(PYGM):c.2177+1G>A
|
rs751875471
|
|
NM_005609.4(PYGM):c.2177+1G>T
|
rs751875471
|
|
NM_005609.4(PYGM):c.2178G>T (p.Gly726=)
|
|
|
NM_005609.4(PYGM):c.2219G>A (p.Arg740Gln)
|
|
|
NM_005609.4(PYGM):c.2255C>T (p.Ser752Phe)
|
|
|
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
|
rs1565531453
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs)
|
rs2496639193
|
|
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln)
|
rs754822104
|
|
NM_005609.4(PYGM):c.2281G>A (p.Asp761Asn)
|
|
|
NM_005609.4(PYGM):c.2284A>G (p.Ile762Val)
|
|
|
NM_005609.4(PYGM):c.2291A>G (p.Asn764Ser)
|
|
|
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp)
|
rs369382075
|
|
NM_005609.4(PYGM):c.2312G>T (p.Arg771Leu)
|
|
|
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
|
rs1565531128
|
|
NM_005609.4(PYGM):c.2380-1G>A
|
rs1555133248
|
|
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.2422_2423dup (p.Ser809fs)
|
|
|
NM_005609.4(PYGM):c.243+1G>T
|
|
|
NM_005609.4(PYGM):c.243+20G>T
|
|
|
NM_005609.4(PYGM):c.2430C>T (p.Gly810=)
|
|
|
NM_005609.4(PYGM):c.2501G>A (p.Arg834His)
|
|
|
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala)
|
rs775376390
|
|
NM_005609.4(PYGM):c.285G>T (p.Thr95=)
|
|
|
NM_005609.4(PYGM):c.298A>T (p.Met100Leu)
|
|
|
NM_005609.4(PYGM):c.316G>C (p.Glu106Gln)
|
|
|
NM_005609.4(PYGM):c.358A>G (p.Met120Val)
|
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)
|
rs780246932
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.424+5G>A
|
|
|
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg)
|
rs2135840127
|
|
NM_005609.4(PYGM):c.471C>G (p.Gly157=)
|
|
|
NM_005609.4(PYGM):c.484T>C (p.Tyr162His)
|
|
|
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)
|
rs141265458
|
|
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp)
|
rs1555136375
|
|
NM_005609.4(PYGM):c.529-4G>A
|
|
|
NM_005609.4(PYGM):c.548G>A (p.Trp183Ter)
|
|
|
NM_005609.4(PYGM):c.578C>T (p.Ala193Val)
|
|
|
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)
|
rs766199191
|
|
NM_005609.4(PYGM):c.660+1G>A
|
rs1555136208
|
|
NM_005609.4(PYGM):c.661-5C>G
|
rs75633423
|
|
NM_005609.4(PYGM):c.664G>C (p.Val222Leu)
|
|
|
NM_005609.4(PYGM):c.679_686dup (p.Pro230fs)
|
|
|
NM_005609.4(PYGM):c.682G>A (p.Asp228Asn)
|
|
|
NM_005609.4(PYGM):c.682G>C (p.Asp228His)
|
|
|
NM_005609.4(PYGM):c.690dup (p.Val231fs)
|
|
|
NM_005609.4(PYGM):c.7C>G (p.Arg3Gly)
|
|
|
NM_005609.4(PYGM):c.855+3G>A
|
|
|
NM_005609.4(PYGM):c.858C>A (p.Phe286Leu)
|
|
|
NM_005609.4(PYGM):c.878G>A (p.Arg293Gln)
|
|
|
NM_005609.4(PYGM):c.968T>C (p.Val323Ala)
|
|
|
NM_005609.4(PYGM):c.999+6A>G
|
|
|
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_005883.3(APC2):c.2372C>T (p.Ala791Val)
|
|
|
NM_005883.3(APC2):c.2518_2523dup (p.Ala841_Lys842insAlaAla)
|
|
|
NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro)
|
rs367655515
|
|
NM_005883.3(APC2):c.5123G>T (p.Arg1708Leu)
|
|
|
NM_005883.3(APC2):c.5872G>C (p.Gly1958Arg)
|
|
|
NM_005908.4(MANBA):c.1064C>G (p.Ser355Ter)
|
|
|
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs)
|
rs764364492
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
|
rs775574131
|
|
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr)
|
rs1560748334
|
|
NM_005908.4(MANBA):c.1867C>T (p.Gln623Ter)
|
|
|
NM_005908.4(MANBA):c.1990C>T (p.Gln664Ter)
|
|
|
NM_005908.4(MANBA):c.2053C>T (p.Gln685Ter)
|
|
|
NM_005908.4(MANBA):c.210_213delinsTCTGTAGTTAAGAGACCCATCTG (p.Arg71delinsLeuTer)
|
rs2476919187
|
|
NM_005908.4(MANBA):c.2175dup (p.Ser726fs)
|
rs771465504
|
|
NM_005908.4(MANBA):c.2346_2349delinsTTCAG (p.Pro784fs)
|
|
|
NM_005908.4(MANBA):c.519G>T (p.Lys173Asn)
|
|
|
NM_005908.4(MANBA):c.549+1G>A
|
rs1334537145
|
|
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
|
rs1732439983
|
|
NM_005908.4(MANBA):c.850_851del (p.Asn284fs)
|
|
|
NM_005908.4(MANBA):c.916del (p.Leu306fs)
|
rs1198947705
|
|
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.1407G>T (p.Gln469His)
|
|
|
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_006721.4(ADK):c.-10_4del (p.Met1fs)
|
|
|
NM_006721.4(ADK):c.2T>C (p.Met1Thr)
|
|
|
NM_006721.4(ADK):c.569_570del (p.Thr190fs)
|
|
|
NM_006721.4(ADK):c.66-23876T>A
|
|
|
NM_012203.2(GRHPR):c.-4_-3delinsAT
|
rs796052077
|
|
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)
|
rs2489231890
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012203.2(GRHPR):c.113A>G (p.Glu38Gly)
|
|
|
NM_012203.2(GRHPR):c.143G>A (p.Gly48Asp)
|
|
|
NM_012203.2(GRHPR):c.145G>A (p.Val49Met)
|
|
|
NM_012203.2(GRHPR):c.154del (p.Ala52fs)
|
rs751101495
|
|
NM_012203.2(GRHPR):c.157C>G (p.His53Asp)
|
|
|
NM_012203.2(GRHPR):c.160G>A (p.Gly54Ser)
|
rs756085471
|
|
NM_012203.2(GRHPR):c.199A>C (p.Ile67Leu)
|
|
|
NM_012203.2(GRHPR):c.214+2T>G
|
rs1057517398
|
|
NM_012203.2(GRHPR):c.215-4A>G
|
|
|
NM_012203.2(GRHPR):c.256G>C (p.Asp86His)
|
|
|
NM_012203.2(GRHPR):c.271del (p.Asp91fs)
|
rs1823058034
|
|
NM_012203.2(GRHPR):c.272A>G (p.Asp91Gly)
|
|
|
NM_012203.2(GRHPR):c.286_287+1del
|
rs750079140
|
|
NM_012203.2(GRHPR):c.334G>A (p.Ala112Thr)
|
|
|
NM_012203.2(GRHPR):c.390C>T (p.Ile130=)
|
rs752869610
|
|
NM_012203.2(GRHPR):c.419C>T (p.Ser140Leu)
|
|
|
NM_012203.2(GRHPR):c.44T>C (p.Ile15Thr)
|
|
|
NM_012203.2(GRHPR):c.461G>C (p.Ser154Thr)
|
|
|
NM_012203.2(GRHPR):c.488G>A (p.Arg163His)
|
|
|
NM_012203.2(GRHPR):c.494-2A>G
|
rs1823266560
|
|
NM_012203.2(GRHPR):c.516_532dup (p.Gln178fs)
|
rs2489243051
|
|
NM_012203.2(GRHPR):c.52G>A (p.Glu18Lys)
|
|
|
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs)
|
rs1588757756
|
|
NM_012203.2(GRHPR):c.597del (p.Phe199fs)
|
rs1057516292
|
|
NM_012203.2(GRHPR):c.599-6C>G
|
|
|
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro)
|
rs886063930
|
|
NM_012203.2(GRHPR):c.61G>A (p.Val21Ile)
|
|
|
NM_012203.2(GRHPR):c.61del (p.Val21fs)
|
|
|
NM_012203.2(GRHPR):c.628G>A (p.Asp210Asn)
|
|
|
NM_012203.2(GRHPR):c.70G>C (p.Ala24Pro)
|
|
|
NM_012203.2(GRHPR):c.740_743delinsGCGA (p.Asp247_Val248delinsGlyAsp)
|
|
|
NM_012203.2(GRHPR):c.782G>T (p.Gly261Val)
|
|
|
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)
|
rs1554748534
|
|
NM_012203.2(GRHPR):c.83+3A>G
|
|
|
NM_012203.2(GRHPR):c.83+5G>C
|
|
|
NM_012203.2(GRHPR):c.851C>A (p.Thr284Asn)
|
|
|
NM_012203.2(GRHPR):c.858G>T (p.Lys286Asn)
|
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
NM_012203.2(GRHPR):c.8C>T (p.Pro3Leu)
|
|
|
NM_012203.2(GRHPR):c.931AAC[3] (p.Asn312_Leu313insAsn)
|
|
|
NM_012203.2(GRHPR):c.951_969del (p.Arg318fs)
|
|
|
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs)
|
rs1554749672
|
|
NM_012203.2(GRHPR):c.955G>A (p.Gly319Arg)
|
|
|
NM_012203.2(GRHPR):c.97C>T (p.Gln33Ter)
|
rs2489231853
|
|
NM_012203.2(GRHPR):c.98A>G (p.Gln33Arg)
|
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
NM_012434.5(SLC17A5):c.110C>T (p.Ser37Phe)
|
|
|
NM_012434.5(SLC17A5):c.1111+1G>T
|
rs777862172
|
|
NM_012434.5(SLC17A5):c.1112-8A>C
|
rs1581962639
|
|
NM_012434.5(SLC17A5):c.1118T>C (p.Ile373Thr)
|
|
|
NM_012434.5(SLC17A5):c.1119T>G (p.Ile373Met)
|
|
|
NM_012434.5(SLC17A5):c.1123C>T (p.Pro375Ser)
|
|
|
NM_012434.5(SLC17A5):c.1238A>G (p.Asn413Ser)
|
|
|
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=)
|
rs760766672
|
|
NM_012434.5(SLC17A5):c.1414A>G (p.Ile472Val)
|
|
|
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs)
|
rs1562000876
|
|
NM_012434.5(SLC17A5):c.16C>T (p.Arg6Ter)
|
|
|
NM_012434.5(SLC17A5):c.175A>G (p.Asn59Asp)
|
|
|
NM_012434.5(SLC17A5):c.179T>C (p.Leu60Pro)
|
|
|
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu)
|
rs1304456183
|
|
NM_012434.5(SLC17A5):c.1del (p.Met1*)
|
rs2150128117
|
|
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
|
rs1281494685
|
|
NM_012434.5(SLC17A5):c.244G>C (p.Ala82Pro)
|
rs199727701
|
|
NM_012434.5(SLC17A5):c.262G>A (p.Ala88Thr)
|
|
|
NM_012434.5(SLC17A5):c.281A>G (p.His94Arg)
|
|
|
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
|
rs2533519854
|
|
NM_012434.5(SLC17A5):c.294_310del
|
rs1192927951
|
|
NM_012434.5(SLC17A5):c.307T>C (p.Trp103Arg)
|
|
|
NM_012434.5(SLC17A5):c.394A>C (p.Lys132Gln)
|
|
|
NM_012434.5(SLC17A5):c.418G>T (p.Gly140Ter)
|
|
|
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
|
rs779264733
|
|
NM_012434.5(SLC17A5):c.431T>G (p.Leu144Arg)
|
|
|
NM_012434.5(SLC17A5):c.4del (p.Arg2fs)
|
|
|
NM_012434.5(SLC17A5):c.501_502del (p.Arg168fs)
|
|
|
NM_012434.5(SLC17A5):c.525+3A>G
|
rs768885202
|
|
NM_012434.5(SLC17A5):c.525+4A>G
|
|
|
NM_012434.5(SLC17A5):c.525+6T>C
|
|
|
NM_012434.5(SLC17A5):c.543dup (p.Met182fs)
|
|
|
NM_012434.5(SLC17A5):c.558G>A (p.Trp186Ter)
|
|
|
NM_012434.5(SLC17A5):c.575C>G (p.Pro192Arg)
|
|
|
NM_012434.5(SLC17A5):c.575dup (p.Leu193fs)
|
|
|
NM_012434.5(SLC17A5):c.57_72del (p.Thr20fs)
|
|
|
NM_012434.5(SLC17A5):c.59C>A (p.Thr20Lys)
|
|
|
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)
|
rs1769021763
|
|
NM_012434.5(SLC17A5):c.677G>A (p.Trp226Ter)
|
|
|
NM_012434.5(SLC17A5):c.694_695delinsC (p.Phe232fs)
|
|
|
NM_012434.5(SLC17A5):c.71C>T (p.Pro24Leu)
|
|
|
NM_012434.5(SLC17A5):c.724_727del (p.Leu242fs)
|
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
NM_012434.5(SLC17A5):c.775T>C (p.Ser259Pro)
|
|
|
NM_012434.5(SLC17A5):c.77C>A (p.Ala26Asp)
|
|
|
NM_012434.5(SLC17A5):c.782A>G (p.Tyr261Cys)
|
|
|
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
|
rs2533490979
|
|
NM_012434.5(SLC17A5):c.802T>C (p.Ser268Pro)
|
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_012434.5(SLC17A5):c.819G>T (p.Gln273His)
|
|
|
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter)
|
rs1768174708
|
|
NM_012434.5(SLC17A5):c.872T>A (p.Leu291His)
|
|
|
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)
|
rs771156053
|
|
NM_012434.5(SLC17A5):c.94G>T (p.Ala32Ser)
|
|
|
NM_012434.5(SLC17A5):c.979-1G>T
|
rs2533429751
|
|
NM_012434.5(SLC17A5):c.985T>C (p.Phe329Leu)
|
|
|
NM_013276.4(SHPK):c.495-19dup
|
rs140922564
|
|
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)
|
rs749829859
|
|
NM_014704.4(CEP104):c.2088_2091del (p.Glu697fs)
|
|
|
NM_014704.4(CEP104):c.2111G>T (p.Gly704Val)
|
|
|
NM_014704.4(CEP104):c.2151+2T>C
|
|
|
NM_014704.4(CEP104):c.2188+1G>T
|
|
|
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
|
rs751734367
|
|
NM_014704.4(CEP104):c.2361del (p.Lys787fs)
|
|
|
NM_014704.4(CEP104):c.2365-2A>G
|
|
|
NM_014704.4(CEP104):c.346G>A (p.Val116Ile)
|
|
|
NM_014704.4(CEP104):c.735+1G>T
|
|
|
NM_014704.4(CEP104):c.808A>T (p.Lys270Ter)
|
|
|
NM_014704.4(CEP104):c.968C>G (p.Ser323Ter)
|
|
|
NM_014806.5(RUSC2):c.3720GGAAGA[1] (p.Glu1245_Glu1246del)
|
rs145749994
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
|
rs1398939540
|
|
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
|
rs773436764
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
|
rs2489890979
|
|
NM_016042.4(EXOSC3):c.325-1G>A
|
|
|
NM_016042.4(EXOSC3):c.394dup (p.Asp132fs)
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.460del (p.Arg154fs)
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
rs1589061488
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
rs149049356
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016042.4(EXOSC3):c.627-1G>C
|
|
|
NM_016042.4(EXOSC3):c.638_639del (p.Pro213fs)
|
|
|
NM_016042.4(EXOSC3):c.672_673del (p.Tyr225fs)
|
|
|
NM_016203.4(PRKAG2):c.1106+19del
|
rs374874465
|
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
|
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.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_016203.4(PRKAG2):c.904C>G (p.Arg302Gly)
|
|
|
NM_016219.5(MAN1B1):c.2011C>T (p.Leu671Phe)
|
|
|
NM_017721.5(CC2D1A):c.1061dup (p.Arg355fs)
|
rs2513094283
|
|
NM_017721.5(CC2D1A):c.1117_1121dup (p.Lys374fs)
|
|
|
NM_017721.5(CC2D1A):c.1403C>G (p.Ser468Ter)
|
|
|
NM_017721.5(CC2D1A):c.1468+1G>C
|
|
|
NM_017721.5(CC2D1A):c.1528C>T (p.Arg510Ter)
|
|
|
NM_017721.5(CC2D1A):c.179_180insCA (p.Glu60fs)
|
rs1970938126
|
|
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)
|
rs77389229
|
|
NM_017721.5(CC2D1A):c.2710+1G>A
|
rs2513147217
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_017755.6(NSUN2):c.37C>T (p.Gln13Ter)
|
|
|
NM_018117.12(WDR11):c.3226G>A (p.Ala1076Thr)
|
|
|
NM_018297.4(NGLY1):c.-17_12del (p.Met1fs)
|
rs765492483
|
|
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs)
|
rs762131179
|
|
NM_018297.4(NGLY1):c.1162_1163del (p.Thr388fs)
|
|
|
NM_018297.4(NGLY1):c.1260+1G>A
|
|
|
NM_018297.4(NGLY1):c.1722_1723insCA (p.Thr575fs)
|
rs2125442902
|
|
NM_018297.4(NGLY1):c.177del (p.Ala60fs)
|
rs2125321733
|
|
NM_018297.4(NGLY1):c.1891del (p.Gln631fs)
|
rs587776982
|
|
NM_018297.4(NGLY1):c.276dup (p.Ala93fs)
|
|
|
NM_018297.4(NGLY1):c.29C>G (p.Ser10Ter)
|
|
|
NM_018297.4(NGLY1):c.34dup (p.Ser12fs)
|
|
|
NM_018297.4(NGLY1):c.39del (p.Ser14fs)
|
rs1553666033
|
|
NM_018297.4(NGLY1):c.636del (p.Arg213fs)
|
|
|
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter)
|
rs772994617
|
|
NM_018444.4(PDP1):c.48dup (p.Leu17fs)
|
|
|
NM_018444.4(PDP1):c.500dup (p.Leu167fs)
|
rs1810312864
|
|
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del)
|
rs780903069
|
|
NM_021956.5(GRIK2):c.1939A>T (p.Ile647Phe)
|
|
|
NM_021956.5(GRIK2):c.368A>G (p.Asn123Ser)
|
|
|
NM_021957.4(GYS2):c.122-8_186delinsATCAGA
|
rs2136913413
|
|
NM_021957.4(GYS2):c.439C>T (p.Arg147Ter)
|
|
|
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)
|
rs150382575
|
|
NM_021957.4(GYS2):c.729C>A (p.Cys243Ter)
|
|
|
NM_021957.4(GYS2):c.948del (p.Asp317fs)
|
|
|
NM_024298.5(MBOAT7):c.-1587C>G
|
rs145947907
|
|
NM_024298.5(MBOAT7):c.864G>C (p.Lys288Asn)
|
|
|
NM_024989.4(PGAP1):c.1273-17dup
|
rs3835877
|
|
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)
|
rs730880329
|
|
NM_033159.4(HYAL1):c.110_134dup (p.Arg46fs)
|
rs782271243
|
|
NM_033159.4(HYAL1):c.156_161delinsC (p.Val53fs)
|
|
|
NM_033159.4(HYAL1):c.221dup (p.Tyr75fs)
|
rs1450097579
|
|
NM_033159.4(HYAL1):c.663_670dup (p.Gly224fs)
|
rs1702197212
|
|
NM_033159.4(HYAL1):c.674_676delinsCTGTGCCCAAAATGTGCCCATCAGGTCATCA (p.Ile225fs)
|
|
|
NM_033159.4(HYAL1):c.81del (p.Asn29fs)
|
rs781974681
|
|
NM_033159.4(HYAL1):c.872_873del (p.Phe290_Tyr291insTer)
|
|
|
NM_033159.4(HYAL1):c.900+1G>A
|
rs2470849538
|
|
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.131C>T (p.Thr44Ile)
|
|
|
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu)
|
rs764396564
|
|
NM_138413.4(HOGA1):c.158del (p.Asp53fs)
|
rs796052091
|
|
NM_138413.4(HOGA1):c.166A>T (p.Lys56Ter)
|
|
|
NM_138413.4(HOGA1):c.212-9C>G
|
rs1589907586
|
|
NM_138413.4(HOGA1):c.223C>T (p.Gln75Ter)
|
|
|
NM_138413.4(HOGA1):c.28G>A (p.Val10Met)
|
|
|
NM_138413.4(HOGA1):c.337G>C (p.Glu113Gln)
|
|
|
NM_138413.4(HOGA1):c.340+1G>C
|
rs759407659
|
|
NM_138413.4(HOGA1):c.344C>G (p.Thr115Ser)
|
rs2041094955
|
|
NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter)
|
rs767405535
|
|
NM_138413.4(HOGA1):c.34C>T (p.Gln12Ter)
|
|
|
NM_138413.4(HOGA1):c.402G>T (p.Met134Ile)
|
|
|
NM_138413.4(HOGA1):c.403G>C (p.Val135Leu)
|
|
|
NM_138413.4(HOGA1):c.413del (p.Pro138fs)
|
rs777683624
|
|
NM_138413.4(HOGA1):c.423T>A (p.Tyr141Ter)
|
|
|
NM_138413.4(HOGA1):c.468+12G>T
|
|
|
NM_138413.4(HOGA1):c.488T>C (p.Ile163Thr)
|
|
|
NM_138413.4(HOGA1):c.502T>C (p.Tyr168His)
|
|
|
NM_138413.4(HOGA1):c.518A>G (p.Asn173Ser)
|
|
|
NM_138413.4(HOGA1):c.603+1G>A
|
rs2135722313
|
|
NM_138413.4(HOGA1):c.624_627del (p.Val209fs)
|
|
|
NM_138413.4(HOGA1):c.633del (p.Thr212fs)
|
|
|
NM_138413.4(HOGA1):c.656T>A (p.Val219Glu)
|
|
|
NM_138413.4(HOGA1):c.70G>A (p.Val24Ile)
|
|
|
NM_138413.4(HOGA1):c.70G>C (p.Val24Leu)
|
|
|
NM_138413.4(HOGA1):c.713dup (p.Val239fs)
|
rs760930050
|
|
NM_138413.4(HOGA1):c.724dup (p.Leu242fs)
|
|
|
NM_138413.4(HOGA1):c.733G>C (p.Val245Leu)
|
|
|
NM_138413.4(HOGA1):c.805C>T (p.Gln269Ter)
|
|
|
NM_138413.4(HOGA1):c.834+2T>C
|
rs947352856
|
|
NM_138413.4(HOGA1):c.842G>A (p.Arg281Gln)
|
|
|
NM_138413.4(HOGA1):c.860G>A (p.Gly287Glu)
|
rs138207257
|
|
NM_138413.4(HOGA1):c.863T>G (p.Leu288Arg)
|
|
|
NM_138413.4(HOGA1):c.876G>A (p.Met292Ile)
|
|
|
NM_138413.4(HOGA1):c.880T>A (p.Trp294Arg)
|
|
|
NM_138413.4(HOGA1):c.89G>T (p.Gly30Val)
|
rs759795758
|
|
NM_138413.4(HOGA1):c.905G>C (p.Cys302Ser)
|
|
|
NM_138413.4(HOGA1):c.907C>G (p.Arg303Gly)
|
rs149150736
|
|
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del)
|
rs750736378
|
|
NM_138413.4(HOGA1):c.937G>A (p.Glu313Lys)
|
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_138413.4(HOGA1):c.944A>C (p.Glu315Ala)
|
|
|
NM_138413.4(HOGA1):c.944A>G (p.Glu315Gly)
|
|
|
NM_138413.4(HOGA1):c.974G>T (p.Gly325Val)
|
|
|
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter)
|
rs756420301
|
|
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)
|
rs748387885
|
|
NM_152419.3(HGSNAT):c.119-2A>C
|
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs)
|
rs759057396
|
|
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)
|
rs1554537586
|
|
NM_152419.3(HGSNAT):c.1565_1577del (p.Thr522fs)
|
|
|
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)
|
rs1586698317
|
|
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg)
|
rs1563386838
|
|
NM_152419.3(HGSNAT):c.208dup (p.Tyr70fs)
|
|
|
NM_152419.3(HGSNAT):c.272del (p.Pro91fs)
|
rs1803166641
|
|
NM_152419.3(HGSNAT):c.321_324dup (p.Ser109fs)
|
|
|
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
|
rs1803172725
|
|
NM_152419.3(HGSNAT):c.494-2A>G
|
rs2486918870
|
|
NM_152419.3(HGSNAT):c.525dup (p.Val176fs)
|
rs483352895
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NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)
|
rs1563366828
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NM_152419.3(HGSNAT):c.61dup (p.Ala21fs)
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NM_152419.3(HGSNAT):c.65del (p.Leu22fs)
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NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)
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rs2486963476
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NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
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rs727503962
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NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)
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rs777146364
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NM_175914.5(HNF4A):c.*145T>A
|
rs200905283
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NM_175914.5(HNF4A):c.10G>A (p.Val4Met)
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NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)
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rs193922470
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NM_175914.5(HNF4A):c.1196C>T (p.Pro399Leu)
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NM_175914.5(HNF4A):c.1208G>A (p.Gly403Glu)
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NM_175914.5(HNF4A):c.1208G>T (p.Gly403Val)
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NM_175914.5(HNF4A):c.1217-1G>A
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NM_175914.5(HNF4A):c.124G>A (p.Gly42Arg)
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rs769007443
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NM_175914.5(HNF4A):c.1250G>A (p.Gly417Asp)
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NM_175914.5(HNF4A):c.1312C>A (p.Leu438Ile)
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NM_175914.5(HNF4A):c.1331C>T (p.Pro444Leu)
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NM_175914.5(HNF4A):c.1348G>A (p.Glu450Lys)
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NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
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rs587777732
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NM_175914.5(HNF4A):c.199C>A (p.Arg67=)
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NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
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NM_175914.5(HNF4A):c.203A>G (p.Lys68Arg)
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NM_175914.5(HNF4A):c.212T>G (p.Met71Arg)
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NM_175914.5(HNF4A):c.287A>G (p.Lys96Arg)
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NM_175914.5(HNF4A):c.28G>C (p.Ala10Pro)
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NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
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rs1085307913
|
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NM_175914.5(HNF4A):c.427-1G>A
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rs1568731279
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NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)
|
rs368759794
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NM_175914.5(HNF4A):c.461T>G (p.Ile154Ser)
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|
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NM_175914.5(HNF4A):c.463C>G (p.Arg155Gly)
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NM_175914.5(HNF4A):c.463C>T (p.Arg155Trp)
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NM_175914.5(HNF4A):c.534G>T (p.Glu178Asp)
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NM_175914.5(HNF4A):c.577G>A (p.Asp193Asn)
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NM_175914.5(HNF4A):c.583-19T>A
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NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
|
rs1381499581
|
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NM_175914.5(HNF4A):c.655G>A (p.Asp219Asn)
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|
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NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
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NM_175914.5(HNF4A):c.702G>A (p.Pro234=)
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NM_175914.5(HNF4A):c.707T>G (p.Leu236Arg)
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NM_175914.5(HNF4A):c.716T>C (p.Met239Thr)
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|
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NM_175914.5(HNF4A):c.912C>A (p.Arg304=)
|
rs760811566
|
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NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
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NM_175914.5(HNF4A):c.991G>A (p.Glu331Lys)
|
rs759399251
|
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NM_175914.5(HNF4A):c.999C>G (p.Ile333Met)
|
|
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NM_181503.3(EXOSC8):c.55-10_55-9del
|
rs144158336
|
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NM_213606.4(SLC16A12):c.-29_3del (p.Met1fs)
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NM_213606.4(SLC16A12):c.1024A>G (p.Arg342Gly)
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NM_213606.4(SLC16A12):c.1027A>G (p.Arg343Gly)
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NM_213606.4(SLC16A12):c.108A>T (p.Arg36Ser)
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|
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NM_213606.4(SLC16A12):c.1091A>G (p.Tyr364Cys)
|
|
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NM_213606.4(SLC16A12):c.1117C>G (p.Leu373Val)
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|
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NM_213606.4(SLC16A12):c.1129G>C (p.Val377Leu)
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NM_213606.4(SLC16A12):c.1147T>C (p.Phe383Leu)
|
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NM_213606.4(SLC16A12):c.1240G>A (p.Val414Ile)
|
|
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NM_213606.4(SLC16A12):c.1255G>A (p.Ala419Thr)
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NM_213606.4(SLC16A12):c.1255G>T (p.Ala419Ser)
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NM_213606.4(SLC16A12):c.1354T>C (p.Phe452Leu)
|
|
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NM_213606.4(SLC16A12):c.1456A>G (p.Thr486Ala)
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|
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NM_213606.4(SLC16A12):c.1466C>T (p.Ser489Leu)
|
|
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NM_213606.4(SLC16A12):c.172G>A (p.Val58Ile)
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NM_213606.4(SLC16A12):c.187C>T (p.Arg63Trp)
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NM_213606.4(SLC16A12):c.200+3A>G
|
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NM_213606.4(SLC16A12):c.227T>A (p.Phe76Tyr)
|
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NM_213606.4(SLC16A12):c.236_239del (p.Tyr79fs)
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NM_213606.4(SLC16A12):c.278T>C (p.Ile93Thr)
|
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NM_213606.4(SLC16A12):c.305C>T (p.Ala102Val)
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NM_213606.4(SLC16A12):c.320T>C (p.Val107Ala)
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NM_213606.4(SLC16A12):c.332A>G (p.His111Arg)
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NM_213606.4(SLC16A12):c.364G>A (p.Gly122Ser)
|
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NM_213606.4(SLC16A12):c.374C>T (p.Ala125Val)
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NM_213606.4(SLC16A12):c.410G>A (p.Ser137Asn)
|
|
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NM_213606.4(SLC16A12):c.438A>T (p.Gly146=)
|
|
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NM_213606.4(SLC16A12):c.43A>G (p.Ile15Val)
|
|
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NM_213606.4(SLC16A12):c.442C>T (p.Leu148Phe)
|
|
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NM_213606.4(SLC16A12):c.484G>A (p.Ala162Thr)
|
|
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NM_213606.4(SLC16A12):c.538A>G (p.Met180Val)
|
|
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NM_213606.4(SLC16A12):c.554T>C (p.Ile185Thr)
|
|
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NM_213606.4(SLC16A12):c.586C>G (p.Leu196Val)
|
|
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NM_213606.4(SLC16A12):c.620T>A (p.Leu207Ter)
|
|
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NM_213606.4(SLC16A12):c.724T>G (p.Cys242Gly)
|
|
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NM_213606.4(SLC16A12):c.737A>G (p.Lys246Arg)
|
|
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NM_213606.4(SLC16A12):c.742G>C (p.Asp248His)
|
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NM_213606.4(SLC16A12):c.766T>C (p.Ser256Pro)
|
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NM_213606.4(SLC16A12):c.784T>C (p.Trp262Arg)
|
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NM_213606.4(SLC16A12):c.809G>A (p.Cys270Tyr)
|
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NM_213606.4(SLC16A12):c.859G>C (p.Ala287Pro)
|
|
|
NM_213606.4(SLC16A12):c.862G>A (p.Val288Ile)
|
rs145964337
|
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NM_213606.4(SLC16A12):c.862G>C (p.Val288Leu)
|
|
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NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs)
|
rs1564568302
|
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