NM_015981.4(CAMK2A):c.158-19A>C
|
rs891938
|
0.99657
|
NM_000263.4(NAGLU):c.423T>C (p.Ser141=)
|
rs659497
|
0.99480
|
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)
|
rs1126058
|
0.99080
|
NM_000030.3(AGXT):c.846+170C>T
|
rs4675793
|
0.98913
|
NM_000027.4(AGA):c.699-25G>C
|
rs4690521
|
0.98895
|
NM_000046.3(ARSB):c.-840_-839dup
|
rs1255033691
|
0.98775
|
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
NM_000925.4(PDHB):c.435A>G (p.Arg145=)
|
rs4264746
|
0.98352
|
NM_015028.4(TNIK):c.2331G>C (p.Ala777=)
|
rs6444960
|
0.98309
|
NM_002299.4(LCT):c.1084A>G (p.Ile362Val)
|
rs4954449
|
0.97993
|
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)
|
rs2172397
|
0.97909
|
NM_000294.2(PHKG2):c.-114T>C
|
rs11863277
|
0.97872
|
NM_012203.2(GRHPR):c.404+291T>C
|
rs2768657
|
0.97430
|
NM_000154.2(GALK1):c.476-74C>A
|
rs820386
|
0.96509
|
NM_000294.3(PHKG2):c.271+38C>T
|
rs4889504
|
0.96355
|
NM_001064.4(TKT):c.748+39C>G
|
rs6445573
|
0.96164
|
NM_014806.5(RUSC2):c.217A>G (p.Thr73Ala)
|
rs1535422
|
0.96071
|
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys)
|
rs1769259
|
0.95944
|
NM_015275.3(WASHC4):c.2701G>A (p.Val901Ile)
|
rs1663564
|
0.94695
|
NM_000046.4(ARSB):c.-302A>G
|
rs163127
|
0.94480
|
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=)
|
rs2241694
|
0.94205
|
NM_002300.8(LDHB):c.713+15A>G
|
rs1650289
|
0.94113
|
NM_000207.3(INS):c.187+11T>C
|
rs5506
|
0.93263
|
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg)
|
rs4302331
|
0.93112
|
NM_000027.4(AGA):c.446C>G (p.Thr149Ser)
|
rs2228119
|
0.92759
|
NM_000343.4(SLC5A1):c.*2257A>G
|
rs5753868
|
0.92649
|
NM_012203.2(GRHPR):c.288-11C>T
|
rs2736664
|
0.92549
|
NM_001041.4(SI):c.4569G>A (p.Met1523Ile)
|
rs4855271
|
0.92178
|
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser)
|
rs968733
|
0.91637
|
NM_000191.3(HMGCL):c.*486G>A
|
rs11714
|
0.91585
|
NM_016302.4(CRBN):c.750+32A>G
|
rs1705789
|
0.91072
|
NM_001715.3(BLK):c.176-104G>A
|
rs6994605
|
0.90656
|
NM_001358263.1(HK1):c.75+5174A>G
|
rs906220
|
0.89921
|
NM_000352.6(ABCC8):c.2390+219T>C
|
rs4148632
|
0.89524
|
NM_000352.6(ABCC8):c.2256-50T>C
|
rs4148626
|
0.89459
|
NM_002591.4(PCK1):c.550G>C (p.Val184Leu)
|
rs707555
|
0.89165
|
NM_024989.4(PGAP1):c.649+17G>A
|
rs12693800
|
0.89159
|
NM_016302.4(CRBN):c.175-9T>C
|
rs1669321
|
0.89132
|
NM_000507.4(FBP1):c.960A>G (p.Gly320=)
|
rs1769257
|
0.88821
|
NM_000404.4(GLB1):c.34T>C (p.Leu12=)
|
rs7614776
|
0.88431
|
NM_152419.3(HGSNAT):c.*1801T>C
|
rs3739431
|
0.87926
|
NM_014026.6(DCPS):c.315G>A (p.Gln105=)
|
rs637462
|
0.87290
|
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys)
|
rs4760682
|
0.86945
|
NM_005327.7(HADH):c.257T>C (p.Leu86Pro)
|
rs4956145
|
0.86661
|
NM_012203.2(GRHPR):c.494-68A>G
|
rs309459
|
0.86126
|
NM_153747.2(PIGC):c.267T>C (p.Gly89=)
|
rs2230471
|
0.85989
|
NM_012203.2(GRHPR):c.579A>G (p.Ala193=)
|
rs309458
|
0.85807
|
NM_000203.5(IDUA):c.99T>G (p.His33Gln)
|
rs10794537
|
0.85085
|
NM_006279.5(ST3GAL3):c.1038+15A>G
|
rs3120803
|
0.84897
|
NM_000046.3(ARSB):c.-1178A>G
|
rs163126
|
0.84841
|
NM_006721.4(ADK):c.*648C>T
|
rs1189553
|
0.82915
|
NM_003597.5(KLF11):c.*1558T>C
|
rs4669522
|
0.82295
|
NM_001715.3(BLK):c.-46A>G
|
rs2250788
|
0.82234
|
NM_031229.4(RBCK1):c.168-242C>T
|
rs6115906
|
0.81688
|
NM_005609.4(PYGM):c.528+74C>A
|
rs489192
|
0.81198
|
NM_001715.3(BLK):c.843T>C (p.Phe281=)
|
rs2306234
|
0.81190
|
NM_000151.4(G6PC1):c.*1294C>A
|
rs161620
|
0.81032
|
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=)
|
rs4880091
|
0.80826
|
NM_003477.3(PDHX):c.*644C>A
|
rs7808
|
0.80809
|
NM_000458.4(HNF1B):c.*100=
|
rs1555818000
|
0.80645
|
NM_001164277.2(SLC37A4):c.-420G>C
|
rs2846281
|
0.80326
|
NM_000188.3(HK1):c.1443G>A (p.Lys481=)
|
rs748235
|
0.80224
|
NM_000152.5(GAA):c.2331+20G>A
|
rs2304832
|
0.80041
|
NM_002591.4(PCK1):c.1140T>C (p.Gly380=)
|
rs2070756
|
0.79829
|
NM_000030.3(AGXT):c.777-44A>G
|
rs12464426
|
0.79262
|
NM_003477.3(PDHX):c.63C>T (p.Pro21=)
|
rs2956109
|
0.78720
|
NM_002299.4(LCT):c.*50G>C
|
rs1042712
|
0.78588
|
NM_015957.4(APIP):c.-70T>C
|
rs2956112
|
0.78475
|
NM_000289.6(PFKM):c.1880+27A>G
|
rs4075913
|
0.78311
|
NM_021957.4(GYS2):c.1169+12A>T
|
rs4639981
|
0.76485
|
NM_016203.4(PRKAG2):c.864+35_864+36insA
|
rs35348247
|
0.76395
|
NM_138775.3(ALKBH8):c.720T>C (p.Asp240=)
|
rs645056
|
0.76333
|
NM_005609.4(PYGM):c.999+99T>C
|
rs625172
|
0.76284
|
NM_000642.3(AGL):c.894C>T (p.Leu298=)
|
rs2230306
|
0.76251
|
NM_021957.4(GYS2):c.1229+11G>A
|
rs1871137
|
0.75356
|
NM_000404.4(GLB1):c.955+60A>G
|
rs12632196
|
0.75289
|
NM_000545.8(HNF1A):c.1623+29T>C
|
rs1169304
|
0.75160
|
NM_000263.4(NAGLU):c.531+50G>C
|
rs2071046
|
0.74899
|
NM_006721.4(ADK):c.66-23911C>T
|
rs10824095
|
0.74804
|
NM_001366110.1(PAX4):c.*521C>T
|
rs712699
|
0.74699
|
NM_001366110.1(PAX4):c.986A>C (p.His329Pro)
|
rs712701
|
0.74681
|
NM_000030.3(AGXT):c.*289A>C
|
rs4344931
|
0.74589
|
NM_001366110.1(PAX4):c.*211A>G
|
rs712700
|
0.74585
|
NM_021957.4(GYS2):c.1087A>G (p.Met363Val)
|
rs2306180
|
0.74398
|
NM_021957.4(GYS2):c.1229+40T>C
|
rs1871136
|
0.74383
|
NM_001543.5(NDST1):c.1662G>C (p.Thr554=)
|
rs1290147
|
0.74209
|
NM_000151.4(G6PC1):c.*2095T>A
|
rs692180
|
0.74089
|
NM_000642.3(AGL):c.959-18G>A
|
rs634880
|
0.73702
|
NM_000151.4(G6PC1):c.*23T>C
|
rs2229611
|
0.73413
|
NM_005609.4(PYGM):c.1403+49C>A
|
rs2959652
|
0.73109
|
NM_000925.4(PDHB):c.701-64G>T
|
rs2070662
|
0.72970
|
NM_152419.3(HGSNAT):c.371+82C>T
|
rs10958738
|
0.72852
|
NM_000925.4(PDHB):c.*296C>G
|
rs7231
|
0.72833
|
NM_031229.4(RBCK1):c.918-61A>G
|
rs2057251
|
0.72369
|
NM_001041.4(SI):c.3888+19C>T
|
rs2290738
|
0.72200
|
NM_021957.4(GYS2):c.1422+23C>G
|
rs7977474
|
0.72064
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
NM_000152.5(GAA):c.2040+20A>G
|
rs2304836
|
0.72004
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
|
rs757110
|
0.71935
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)
|
rs12952612
|
0.71802
|
NM_000352.6(ABCC8):c.4608+54G>C
|
rs4148646
|
0.71546
|
NM_000213.5(ITGB4):c.*25C>T
|
rs9367
|
0.71419
|
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)
|
rs5215
|
0.71351
|
NM_000352.6(ABCC8):c.2390+123C>T
|
rs4148631
|
0.70926
|
NM_000352.6(ABCC8):c.2390+93C>T
|
rs4148630
|
0.70902
|
NM_002076.4(GNS):c.198G>A (p.Pro66=)
|
rs1147096
|
0.70681
|
NM_000188.3(HK1):c.1839+31G>A
|
rs749105
|
0.70672
|
NM_006721.4(ADK):c.878-71T>C
|
rs10740443
|
0.69570
|
NM_002299.4(LCT):c.4606C>T (p.Leu1536=)
|
rs2304371
|
0.69539
|
NM_000151.4(G6PC1):c.*2088A>T
|
rs9902963
|
0.69330
|
NM_005609.4(PYGM):c.660+35G>A
|
rs589691
|
0.68983
|
NM_002076.4(GNS):c.793-68G>C
|
rs1690277
|
0.68800
|
NM_017755.6(NSUN2):c.1602-11G>T
|
rs2303707
|
0.68523
|
NM_002500.5(NEUROD1):c.-73G>A
|
rs2583016
|
0.68252
|
NM_005609.4(PYGM):c.529-82G>A
|
rs490980
|
0.67990
|
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala)
|
rs1801262
|
0.67693
|
NM_000154.2(GALK1):c.356-32C>T
|
rs7209235
|
0.67684
|
NM_000458.4(HNF1B):c.1654-22=
|
rs3110641
|
0.67606
|
NM_001543.5(NDST1):c.1097-28T>C
|
rs2545341
|
0.67102
|
NM_000199.5(SGSH):c.*848C>G
|
rs709677
|
0.67025
|
NM_000199.5(SGSH):c.*840A>G
|
rs709678
|
0.66962
|
NM_000108.5(DLD):c.*487C>T
|
rs4518
|
0.66588
|
NM_000152.5(GAA):c.1551+49C>A
|
rs2304843
|
0.66585
|
NM_006618.5(KDM5B):c.2184C>T (p.Tyr728=)
|
rs1141108
|
0.66577
|
NM_006618.5(KDM5B):c.747G>A (p.Thr249=)
|
rs3196669
|
0.66570
|
NM_000528.4(MAN2B1):c.2267+63A>G
|
rs3815914
|
0.66212
|
NM_000108.5(DLD):c.*978T>C
|
rs2158835
|
0.66205
|
NM_000108.5(DLD):c.*1451T>C
|
rs2108223
|
0.66202
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_003754.3(EIF3F):c.561C>T (p.His187=)
|
rs4758267
|
0.66119
|
NM_022042.4(SLC26A1):c.-27-209T>C
|
rs3822020
|
0.66105
|
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu)
|
rs1049434
|
0.66103
|
NM_003051.4(SLC16A1):c.*1414C>T
|
rs7169
|
0.66095
|
NM_000108.5(DLD):c.199-108T>C
|
rs10250718
|
0.66040
|
NM_001008216.2(GALE):c.873+13G>A
|
rs760941
|
0.65959
|
NM_000108.5(DLD):c.*207G>A
|
rs4564
|
0.65906
|
NM_000642.3(AGL):c.3259+37G>A
|
rs594249
|
0.65860
|
NM_000642.3(AGL):c.2812+11G>A
|
rs555929
|
0.65828
|
NM_000152.5(GAA):c.547-39T>G
|
rs12452721
|
0.65696
|
NM_000152.5(GAA):c.547-67C>G
|
rs8069491
|
0.65691
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000308.4(CTSA):c.693-33A>G
|
rs4810476
|
0.65662
|
NM_000308.4(CTSA):c.1088+10C>T
|
rs4608591
|
0.65654
|
NM_000152.5(GAA):c.1438-19G>C
|
rs2304844
|
0.65495
|
NM_000308.4(CTSA):c.948+7G>A
|
rs2075961
|
0.65493
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
NM_000027.4(AGA):c.941-84C>G
|
rs3805167
|
0.65485
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000152.5(GAA):c.1438-108G>A
|
rs12944802
|
0.65436
|
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser)
|
rs238238
|
0.65415
|
NM_000152.5(GAA):c.858+30T>C
|
rs2304845
|
0.65092
|
NM_032808.7(LINGO1):c.714G>C (p.Leu238=)
|
rs2271396
|
0.65067
|
NM_032808.7(LINGO1):c.474A>G (p.Leu158=)
|
rs2271397
|
0.64965
|
NM_000262.3(NAGA):c.279G>A (p.Pro93=)
|
rs133369
|
0.64950
|
NM_032808.7(LINGO1):c.465C>T (p.Ile155=)
|
rs2271398
|
0.64821
|
NM_002291.3(LAMB1):c.5225-7C>T
|
rs3213673
|
0.64814
|
NM_003477.3(PDHX):c.*486G>T
|
rs9326
|
0.64744
|
NM_005566.4(LDHA):c.483C>T (p.Ser161=)
|
rs4687
|
0.64502
|
NM_005566.4(LDHA):c.519A>G (p.Leu173=)
|
rs4820
|
0.64482
|
NM_005566.4(LDHA):c.*639T>C
|
rs3758682
|
0.64017
|
NM_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
NM_001360016.2(G6PD):c.1365-13C>T
|
rs2071429
|
0.63462
|
NM_002076.4(GNS):c.*380C>T
|
rs674
|
0.63058
|
NM_002294.3(LAMP2):c.*4579A>G
|
rs42885
|
0.62750
|
NM_000262.3(NAGA):c.*1929C>T
|
rs5758566
|
0.62119
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
NM_000642.3(AGL):c.*732C>T
|
rs3766600
|
0.61998
|
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)
|
rs871443
|
0.61836
|
NM_000262.3(NAGA):c.-208G>C
|
rs133375
|
0.61550
|
NM_006618.5(KDM5B):c.1887C>T (p.His629=)
|
rs1892164
|
0.60950
|
NM_012203.2(GRHPR):c.404+153T>C
|
rs2768658
|
0.60907
|
NM_000152.5(GAA):c.1754+144C>T
|
rs2304838
|
0.60815
|
NM_002299.4(LCT):c.5568T>C (p.Ala1856=)
|
rs2278544
|
0.60314
|
NM_000027.4(AGA):c.127+25C>T
|
rs11131799
|
0.60222
|
NM_003477.3(PDHX):c.858T>C (p.Val286=)
|
rs497582
|
0.59662
|
NM_006279.5(ST3GAL3):c.1039-18C>T
|
rs2108202
|
0.59490
|
NM_000207.3(INS):c.-17-6T>A
|
rs689
|
0.59334
|
NM_000207.3(INS):c.*22A>C
|
rs3842753
|
0.59307
|
NM_001352514.2(HLCS):c.1893-46G>T
|
rs2073421
|
0.59296
|
NM_005883.3(APC2):c.413+95T>C
|
rs12985827
|
0.59265
|
NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser)
|
rs2322659
|
0.59219
|
NM_003477.2(PDHX):c.-88C>A
|
rs2956110
|
0.59089
|
NM_000343.4(SLC5A1):c.*706C>T
|
rs1056444
|
0.58787
|
NM_000458.4(HNF1B):c.*444=
|
rs2688
|
0.58526
|
NM_001041.4(SI):c.1797G>T (p.Ala599=)
|
rs9838509
|
0.58296
|
NM_001041.4(SI):c.1437C>T (p.Asn479=)
|
rs9290257
|
0.57954
|
NM_001041.4(SI):c.1512+25G>A
|
rs9290256
|
0.57954
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_001041.4(SI):c.1278+42_1278+43insAT
|
rs60170840
|
0.57854
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
NM_001041.4(SI):c.1146+13A>C
|
rs9290259
|
0.57783
|
NM_001160372.4(TRAPPC9):c.2557-13T>A
|
rs9792174
|
0.57247
|
NM_175914.5(HNF4A):c.1217-67C>G
|
rs3746575
|
0.56796
|
NM_175914.5(HNF4A):c.827-88T>C
|
rs2273618
|
0.56736
|
NM_001041.4(SI):c.691A>G (p.Thr231Ala)
|
rs9283633
|
0.56659
|
NM_000188.3(HK1):c.2219+27T>C
|
rs2278745
|
0.56586
|
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)
|
rs3735801
|
0.55959
|
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)
|
rs3735802
|
0.55845
|
NM_001715.3(BLK):c.-1-105C>G
|
rs12386974
|
0.55690
|
NM_000152.5(GAA):c.1637-185A>G
|
rs12951255
|
0.55461
|
NM_015028.4(TNIK):c.63C>T (p.Pro21=)
|
rs3796295
|
0.55370
|
NM_005908.4(MANBA):c.*384C>T
|
rs4019
|
0.55353
|
NM_005908.4(MANBA):c.*401G>A
|
rs4013
|
0.55336
|
NM_005908.4(MANBA):c.2015-28G>A
|
rs4547797
|
0.55331
|
NM_005908.4(MANBA):c.2368T>C (p.Leu790=)
|
rs2272697
|
0.55313
|
NM_005908.4(MANBA):c.*124T>C
|
rs3194585
|
0.55297
|
NM_005908.4(MANBA):c.*161C>T
|
rs1054029
|
0.55296
|
NM_175914.5(HNF4A):c.670+141A>G
|
rs6103731
|
0.55192
|
NM_001352514.2(HLCS):c.1438-36G>A
|
rs2073425
|
0.55169
|
NM_003597.5(KLF11):c.*1853T>C
|
rs7632
|
0.55083
|
NM_000199.5(SGSH):c.250-26C>T
|
rs4889839
|
0.54568
|
NM_005908.4(MANBA):c.*505G>A
|
rs1054037
|
0.54146
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
NM_000046.5(ARSB):c.*1302G>T
|
rs754566
|
0.53627
|
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr)
|
rs13119545
|
0.53595
|
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=)
|
rs2292597
|
0.53313
|
NM_001064.4(TKT):c.1264+17T>C
|
rs3736156
|
0.53227
|
NM_002076.4(GNS):c.*2361C>G
|
rs1061743
|
0.52503
|
NM_138775.3(ALKBH8):c.878+31T>A
|
rs589788
|
0.52394
|
NM_001365304.2(LOC112694756):c.*489-63G>C
|
rs9783783
|
0.52268
|
NM_000891.3(KCNJ2):c.*1267A>G
|
rs236514
|
0.52229
|
NM_000181.4(GUSB):c.1065+27C>G
|
rs781143
|
0.52153
|
NM_000458.4(HNF1B):c.544+1391T>C
|
rs4430796
|
0.52088
|
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)
|
rs7918487
|
0.51842
|
NM_002299.4(LCT):c.1419C>A (p.Gly473=)
|
rs6719488
|
0.51566
|
NM_000507.4(FBP1):c.*21C>T
|
rs9695
|
0.51483
|
NM_002299.4(LCT):c.582C>T (p.Thr194=)
|
rs2236783
|
0.51423
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)
|
rs627441
|
0.51169
|
NM_000507.4(FBP1):c.705+14C>T
|
rs2297084
|
0.51109
|
NM_002076.4(GNS):c.*1353G>A
|
rs1269548
|
0.51078
|
NM_000642.3(AGL):c.2001+8T>C
|
rs3736296
|
0.51012
|
NM_000528.4(MAN2B1):c.1310-22C>T
|
rs73002392
|
0.50963
|
NM_006488.3(KHK):c.-469A>C
|
rs6742004
|
0.50895
|
NM_001164277.1(SLC37A4):c.-755T>A
|
rs1784559
|
0.50768
|
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro)
|
rs9530
|
0.50676
|
NM_000027.4(AGA):c.*183A>C
|
rs1061814
|
0.50675
|
NM_015028.4(TNIK):c.744C>T (p.Asn248=)
|
rs12637875
|
0.50558
|
NM_016219.5(MAN1B1):c.*384A>G
|
rs4567
|
0.49708
|
NM_000181.4(GUSB):c.1653+151A>G
|
rs1880555
|
0.49681
|
NM_016203.4(PRKAG2):c.114+13034A>G
|
rs4726104
|
0.49619
|
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)
|
rs2304854
|
0.49481
|
NM_001715.3(BLK):c.330T>C (p.Ser110=)
|
rs3816668
|
0.49161
|
NM_000199.5(SGSH):c.*855T>C
|
rs1046832
|
0.48983
|
NM_000158.4(GBE1):c.-28G>T
|
rs368460254
|
0.48974
|
NM_017950.4(CCDC40):c.*149T>C
|
rs2304852
|
0.48973
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
NM_000642.3(AGL):c.2950-21T>A
|
rs2035961
|
0.48240
|
NM_005566.4(LDHA):c.*720C>G
|
rs3758683
|
0.48049
|
NM_005566.4(LDHA):c.*622A>G
|
rs3758681
|
0.47986
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
NM_000642.3(AGL):c.*1028C>T
|
rs3766601
|
0.47451
|
NM_000199.5(SGSH):c.*315C>T
|
rs2071148
|
0.47300
|
NM_000343.4(SLC5A1):c.1129+7T>G
|
rs5998233
|
0.47147
|
NM_021957.4(GYS2):c.*152C>T
|
rs936
|
0.46898
|
NM_002591.4(PCK1):c.611-44G>C
|
rs2070755
|
0.46851
|
NM_000199.5(SGSH):c.663+17T>C
|
rs6565647
|
0.46516
|
NM_000642.3(AGL):c.3836+45G>A
|
rs2274570
|
0.46505
|
NM_000352.6(ABCC8):c.579+14C>T
|
rs2301703
|
0.46493
|
NM_015981.4(CAMK2A):c.1238-44G>A
|
rs2241695
|
0.46240
|
NM_000035.4(ALDOB):c.*1151A>G
|
rs491979
|
0.46095
|
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)
|
rs3735803
|
0.45974
|
NM_053013.4(ENO3):c.-3+3C>T
|
rs366577
|
0.45968
|
NM_138775.3(ALKBH8):c.1288-3C>T
|
rs654093
|
0.45699
|
NM_080749.4(NEURL2):c.-13C>T
|
rs2868362
|
0.45384
|
NM_002591.4(PCK1):c.*120T>G
|
rs1042531
|
0.45356
|
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly)
|
rs12732924
|
0.45161
|
NM_000352.6(ABCC8):c.4120-27T>C
|
rs739689
|
0.45032
|
NM_031229.4(RBCK1):c.22+33C>T
|
rs3746792
|
0.44804
|
NM_175914.5(HNF4A):c.50-38T>C
|
rs736824
|
0.44632
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
NM_001164277.2(SLC37A4):c.-516G>A
|
rs3759012
|
0.44121
|
NM_153747.2(PIGC):c.796C>T (p.Pro266Ser)
|
rs1063412
|
0.44041
|
NM_000046.5(ARSB):c.*2022T>G
|
rs7704939
|
0.43898
|
NM_002591.4(PCK1):c.69A>G (p.Leu23=)
|
rs1042521
|
0.43803
|
NM_000525.4(KCNJ11):c.*441T>C
|
rs2285676
|
0.43747
|
NM_032808.7(LINGO1):c.1104C>T (p.Ser368=)
|
rs3743481
|
0.43645
|
NM_000030.3(AGXT):c.846+52G>A
|
rs12695032
|
0.43208
|
NM_012434.5(SLC17A5):c.979-87A>G
|
rs628038
|
0.43140
|
NM_053013.4(ENO3):c.254T>C (p.Val85Ala)
|
rs238239
|
0.43006
|
NM_018444.4(PDP1):c.*36T>C
|
rs4735258
|
0.42976
|
NM_001715.3(BLK):c.*176C>T
|
rs1042689
|
0.42891
|
NM_002591.4(PCK1):c.489A>G (p.Ser163=)
|
rs1062601
|
0.42887
|
NM_002591.4(PCK1):c.462A>G (p.Ser154=)
|
rs1042523
|
0.42809
|
NM_000545.8(HNF1A):c.51C>G (p.Leu17=)
|
rs1169289
|
0.42543
|
NM_001715.3(BLK):c.-1-53G>A
|
rs2245250
|
0.41844
|
NM_001543.5(NDST1):c.681T>G (p.Val227=)
|
rs2273235
|
0.41747
|
NM_001715.3(BLK):c.1313-28C>T
|
rs10097015
|
0.41687
|
NM_001715.3(BLK):c.123+88G>T
|
rs2245232
|
0.41611
|
NM_000035.4(ALDOB):c.800-76T>C
|
rs506571
|
0.41593
|
NM_001739.2(CA5A):c.143-9T>A
|
rs12922226
|
0.41434
|
NM_000642.3(AGL):c.-10A>G
|
rs2307130
|
0.41188
|
NM_000035.4(ALDOB):c.*69C>T
|
rs4577
|
0.41145
|
NM_000507.4(FBP1):c.567+31G>A
|
rs3739747
|
0.41075
|
NM_001352514.2(HLCS):c.2122-30G>A
|
rs2073420
|
0.40931
|
NM_000512.5(GALNS):c.1431G>A (p.Glu477=)
|
rs2303271
|
0.40780
|
NM_001352514.2(HLCS):c.*3141_*3142dup
|
rs3031056
|
0.40694
|
NM_138413.4(HOGA1):c.*445A>G
|
rs1812286
|
0.40584
|
NM_138413.4(HOGA1):c.*711G>A
|
rs11189295
|
0.40516
|
NM_138413.4(HOGA1):c.*498G>A
|
rs2018017
|
0.40451
|
NM_000642.3(AGL):c.*1541T>C
|
rs3766603
|
0.40438
|
NM_000528.4(MAN2B1):c.910-73A>G
|
rs2303731
|
0.40412
|
NM_138413.4(HOGA1):c.*355C>T
|
rs1977642
|
0.40312
|
NM_000203.5(IDUA):c.60G>A (p.Ala20=)
|
rs10902762
|
0.39819
|
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)
|
rs1799859
|
0.39734
|
NM_000203.5(IDUA):c.24C>A (p.Ala8=)
|
rs11248061
|
0.39731
|
NM_002591.4(PCK1):c.453G>A (p.Ser151=)
|
rs1062600
|
0.39601
|
NM_002294.3(LAMP2):c.156A>T (p.Val52=)
|
rs12097
|
0.39324
|
NM_005908.4(MANBA):c.757G>A (p.Val253Ile)
|
rs227368
|
0.39095
|
NM_001715.3(BLK):c.1030-38C>T
|
rs4841561
|
0.38972
|
NM_000158.4(GBE1):c.-57G>A
|
rs2290081
|
0.38912
|
NC_000003.12:g.171027026T>C
|
rs5396
|
0.38870
|
NM_012434.5(SLC17A5):c.*971G>A
|
rs670248
|
0.38715
|
NM_020066.5(FMN2):c.1413C>A (p.Ala471=)
|
rs10926124
|
0.38564
|
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)
|
rs5398
|
0.38373
|
NM_000262.3(NAGA):c.*1333T>C
|
rs1063392
|
0.38250
|
NM_000512.5(GALNS):c.120+1532G>C
|
rs34150867
|
0.38226
|
NM_017950.4(CCDC40):c.*186A>C
|
rs2304851
|
0.38175
|
NM_000458.4(HNF1B):c.*274=
|
rs2689
|
0.38166
|
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=)
|
rs8669
|
0.37872
|
NM_000642.3(AGL):c.*1296A>C
|
rs1804809
|
0.37745
|
NM_001064.4(TKT):c.748+17C>T
|
rs2242301
|
0.37137
|
NM_006488.3(KHK):c.145G>A (p.Val49Ile)
|
rs2304681
|
0.36761
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
NM_001360016.2(G6PD):c.*357=
|
rs1050757
|
0.36655
|
G6PD:c.1455-13T>C
|
rs2071429
|
0.36538
|
NM_000188.3(HK1):c.78C>G (p.Leu26=)
|
rs1133189
|
0.36523
|
NM_000352.6(ABCC8):c.4609-40A>G
|
rs1109591
|
0.36421
|
NM_003477.2(PDHX):c.-272G>A
|
rs2956111
|
0.36407
|
NM_014415.4(ZBTB11):c.1624-4C>T
|
rs11712748
|
0.36125
|
NM_000030.3(AGXT):c.595+100G>A
|
rs12997245
|
0.35955
|
NM_000158.4(GBE1):c.*176G>A
|
rs846
|
0.35837
|
NM_017950.4(CCDC40):c.*15T>C
|
rs2304853
|
0.35502
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)
|
rs56407805
|
0.35335
|
NM_000046.5(ARSB):c.1143-27A>C
|
rs25415
|
0.35324
|
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)
|
rs10949483
|
0.35277
|
NM_015981.4(CAMK2A):c.1467-4A>G
|
rs55976097
|
0.35152
|
NM_020897.3(HCN3):c.*1069C>T
|
rs8847
|
0.35054
|
NM_000298.6(PKLR):c.*267C>T
|
rs932972
|
0.35051
|
NM_000298.6(PKLR):c.1705C>A (p.Arg569=)
|
rs1052176
|
0.35034
|
NM_020066.5(FMN2):c.2517C>G (p.Thr839=)
|
rs10926166
|
0.34857
|
NM_001715.3(BLK):c.*428G>A
|
rs1042701
|
0.34826
|
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
|
rs1133330
|
0.34583
|
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)
|
rs1065757
|
0.34419
|
NM_015957.4(APIP):c.19C>T (p.Arg7Trp)
|
rs2956114
|
0.34353
|
NM_000308.4(CTSA):c.1359+35G>A
|
rs7270170
|
0.34309
|
NM_000458.4(HNF1B):c.1535-177T>C
|
rs2269841
|
0.34224
|
NM_138413.4(HOGA1):c.835-120A>G
|
rs1124116
|
0.34185
|
NM_000458.4(HNF1B):c.1535-225_1535-224insC
|
rs11440398
|
0.34179
|
NM_003384.3(VRK1):c.217-244T>C
|
rs12586511
|
0.34167
|
NM_000162.5(GCK):c.1253+8C>T
|
rs2908274
|
0.34109
|
NM_017755.6(NSUN2):c.97-6C>T
|
rs10076470
|
0.34106
|
NM_000162.5(GCK):c.*759del
|
rs55714218
|
0.33944
|
NM_017755.6(NSUN2):c.51G>A (p.Glu17=)
|
rs10062086
|
0.33934
|
NM_000411.7(HLCS):c.-480-12A>G
|
rs115866403
|
0.33322
|
NM_000512.5(GALNS):c.*367T>C
|
rs1141390
|
0.33207
|
NM_001931.5(DLAT):c.128C>T (p.Ala43Val)
|
rs2303436
|
0.32827
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_006279.5(ST3GAL3):c.209+9925A>G
|
rs37458
|
0.32581
|
NM_012434.5(SLC17A5):c.1112-36G>A
|
rs4708065
|
0.32463
|
NM_006488.3(KHK):c.*767C>T
|
rs1131375
|
0.32419
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
NM_031229.4(RBCK1):c.1029+39C>G
|
rs6051905
|
0.32396
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)
|
rs10891314
|
0.32172
|
NM_000202.8(IDS):c.438C>T (p.Thr146=)
|
rs1141608
|
0.32051
|
NM_000642.3(AGL):c.*272G>T
|
rs1804808
|
0.31955
|
NM_000507.4(FBP1):c.426+7C>T
|
rs8192689
|
0.31642
|
NM_003051.4(SLC16A1):c.*1942T>C
|
rs9429505
|
0.31556
|
NM_000108.5(DLD):c.*18A>T
|
rs8721
|
0.31455
|
NM_000108.5(DLD):c.438+83G>A
|
rs17412104
|
0.31437
|
NM_001715.3(BLK):c.-190C>T
|
rs922483
|
0.31162
|
NM_000108.5(DLD):c.*1688G>A
|
rs8440
|
0.31157
|
NM_000199.5(SGSH):c.664-36T>C
|
rs35087113
|
0.31148
|
NM_006765.4(TUSC3):c.309-6T>C
|
rs1035972
|
0.31124
|
NM_000199.5(SGSH):c.1367G>A (p.Arg456His)
|
rs7503034
|
0.31021
|
NM_000507.4(FBP1):c.651C>T (p.Ala217=)
|
rs1042144
|
0.30883
|
NM_000030.3(AGXT):c.*41C>A
|
rs4273214
|
0.30802
|
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)
|
rs1054486
|
0.30800
|
NM_021957.4(GYS2):c.*6A>T
|
rs10431213
|
0.30676
|
NM_000030.3(AGXT):c.846+199G>A
|
rs13030904
|
0.30492
|
NM_022895.3(C12orf43):c.*2523C>T
|
rs1169310
|
0.30485
|
NM_000545.8(HNF1A):c.1501+7G>A
|
rs2464195
|
0.30441
|
NM_022895.3(C12orf43):c.*2764C>A
|
rs1169309
|
0.30438
|
NM_006859.4(LIAS):c.884-14T>A
|
rs2125314
|
0.30396
|
NM_000046.5(ARSB):c.313-26T>C
|
rs3733895
|
0.30072
|
NM_000925.4(PDHB):c.267+42G>A
|
rs62259772
|
0.30062
|
NM_000925.4(PDHB):c.438G>A (p.Gly146=)
|
rs1126551
|
0.30058
|
NM_000289.5(PFKM):c.-112T>G
|
rs12306290
|
0.29895
|
NM_004130.4(GYG1):c.552G>A (p.Pro184=)
|
rs4938
|
0.29862
|
NM_000289.6(PFKM):c.428-39G>A
|
rs2269933
|
0.29774
|
NM_001366110.1(PAX4):c.*477C>T
|
rs327520
|
0.29767
|
NM_015028.4(TNIK):c.1419+19A>G
|
rs6444965
|
0.29767
|
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)
|
rs2229519
|
0.29724
|
NM_138413.4(HOGA1):c.912C>A (p.Ala304=)
|
rs12261752
|
0.29673
|
NM_000925.4(PDHB):c.*243A>C
|
rs1126722
|
0.29583
|
NM_000030.3(AGXT):c.524+91C>T
|
rs10196315
|
0.29513
|
NM_020066.5(FMN2):c.4403G>A (p.Arg1468His)
|
rs3795677
|
0.29272
|
NM_000642.3(AGL):c.1424-44A>G
|
rs2291638
|
0.29229
|
NM_000458.4(HNF1B):c.1535-46T>G
|
rs2269842
|
0.29082
|
NM_000545.8(HNF1A):c.326+91A>G
|
rs2244608
|
0.28699
|
NM_002103.5(GYS1):c.1026C>T (p.Phe342=)
|
rs5464
|
0.28606
|
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.28594
|
NM_002294.3(LAMP2):c.*5038A>G
|
rs2748
|
0.28585
|
NM_000545.8(HNF1A):c.327-42G>A
|
rs1169294
|
0.28559
|
NM_000046.5(ARSB):c.*1257A>C
|
rs754567
|
0.28549
|
NM_001164277.2(SLC37A4):c.*125G>C
|
rs8301
|
0.28518
|
NM_000289.6(PFKM):c.2334T>G (p.Ala778=)
|
rs8716
|
0.28514
|
NM_000925.4(PDHB):c.*353T>C
|
rs1126735
|
0.28091
|
NM_012203.2(GRHPR):c.-92C>T
|
rs4878690
|
0.27923
|
NM_000545.8(HNF1A):c.327-158C>T
|
rs1169292
|
0.27502
|
NM_001160372.4(TRAPPC9):c.1134+21A>G
|
rs3779658
|
0.27421
|
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg)
|
rs13551
|
0.27120
|
NM_000458.4(HNF1B):c.*99C>A
|
rs2229295
|
0.27047
|
NM_000046.5(ARSB):c.1191G>A (p.Pro397=)
|
rs25413
|
0.27041
|
NM_000291.4(PGK1):c.522-24C>T
|
rs2007039
|
0.26980
|
NM_003051.4(SLC16A1):c.362-21A>C
|
rs201021807
|
0.26702
|
NM_138413.4(HOGA1):c.*313A>C
|
rs933057
|
0.26438
|
NM_000411.8(HLCS):c.-405T>C
|
rs117476389
|
0.26368
|
NM_000545.8(HNF1A):c.527-23C>T
|
rs1169301
|
0.26300
|
NM_000512.5(GALNS):c.*611A>G
|
rs1135364
|
0.26293
|
NM_001041.4(SI):c.43G>T (p.Val15Phe)
|
rs9290264
|
0.26247
|
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)
|
rs2464196
|
0.26206
|
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=)
|
rs2259820
|
0.26141
|
NM_012434.5(SLC17A5):c.*385C>G
|
rs3734518
|
0.26106
|
NM_016219.5(MAN1B1):c.1765-5C>A
|
rs12115325
|
0.25976
|
NM_000411.7(HLCS):c.-466A>G
|
rs117138955
|
0.25759
|
NM_000411.7(HLCS):c.-471A>G
|
rs118091633
|
0.25745
|
NM_001041.4(SI):c.*68T>C
|
rs73018867
|
0.25607
|
NM_000035.4(ALDOB):c.540+84A>C
|
rs1929480
|
0.25349
|
NM_000411.8(HLCS):c.-433C>T
|
rs115711809
|
0.25319
|
NM_000545.8(HNF1A):c.864G>C (p.Gly288=)
|
rs56348580
|
0.25042
|
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)
|
rs8192696
|
0.24916
|
NM_000512.5(GALNS):c.708C>T (p.His236=)
|
rs1064315
|
0.24874
|
NM_175914.5(HNF4A):c.*1132C>T
|
rs6130615
|
0.24797
|
NM_138775.3(ALKBH8):c.1030+9A>G
|
rs12574614
|
0.24106
|
NM_000642.3(AGL):c.83-33C>T
|
rs2307129
|
0.24077
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
NM_000512.5(GALNS):c.*36G>A
|
rs11076715
|
0.23846
|
NM_002299.4(LCT):c.4465-37C>T
|
rs2304370
|
0.23782
|
NM_000152.5(GAA):c.2133A>G (p.Thr711=)
|
rs1800310
|
0.23591
|
NM_000512.5(GALNS):c.*652A>G
|
rs1135366
|
0.23189
|
NM_006516.4(SLC2A1):c.-197A>C
|
rs11537640
|
0.23186
|
NM_000162.5(GCK):c.46-4521C>A
|
rs2070971
|
0.23160
|
NM_006516.2(SLC2A1):c.-390delA
|
rs28365848
|
0.23160
|
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)
|
rs5400
|
0.23124
|
NM_000284.4(PDHA1):c.*1394C>T
|
rs55856360
|
0.22991
|
NM_015028.4(TNIK):c.2316C>T (p.Leu772=)
|
rs2291900
|
0.22910
|
NM_000284.4(PDHA1):c.760-15C>A
|
rs7058209
|
0.22904
|
NM_000340.2(SLC2A2):c.496+8A>T
|
rs5402
|
0.22868
|
NM_000284.4(PDHA1):c.*1059G>A
|
rs15816
|
0.22867
|
NM_000284.4(PDHA1):c.*844A>G
|
rs1042453
|
0.22833
|
NM_000284.4(PDHA1):c.*728C>T
|
rs1042452
|
0.22767
|
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)
|
rs5218
|
0.22765
|
NC_000003.12:g.171027131T>G
|
rs5393
|
0.22748
|
NM_000162.5(GCK):c.209-236G>T
|
rs2971677
|
0.22722
|
NM_000284.4(PDHA1):c.*319G>T
|
rs1042449
|
0.22677
|
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)
|
rs12549048
|
0.22639
|
NM_000284.4(PDHA1):c.*322G>A
|
rs1042450
|
0.22629
|
NM_012434.5(SLC17A5):c.526-106G>T
|
rs3757111
|
0.22477
|
NM_020066.5(FMN2):c.1830A>G (p.Ser610=)
|
rs3765588
|
0.22473
|
NM_000203.5(IDUA):c.352C>T (p.Leu118=)
|
rs3755954
|
0.22368
|
NM_000925.4(PDHB):c.793-41G>A
|
rs62259769
|
0.22293
|
NM_000152.5(GAA):c.*223C>T
|
rs8132
|
0.22255
|
NM_000925.4(PDHB):c.*99C>T
|
rs7230
|
0.22245
|
NM_000925.4(PDHB):c.*356A>G
|
rs1126737
|
0.22224
|
NM_000458.4(HNF1B):c.*924C>G
|
rs10962
|
0.22156
|
NM_144563.3(RPIA):c.*531T>G
|
rs6974
|
0.22151
|
NM_000343.4(SLC5A1):c.*1804T>C
|
rs17683807
|
0.22133
|
NM_003477.2(PDHX):c.-129C>T
|
rs112032820
|
0.22090
|
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala)
|
rs11539202
|
0.21800
|
NM_000203.5(IDUA):c.1525-38T>C
|
rs1131853
|
0.21794
|
NM_000404.4(GLB1):c.*354T>C
|
rs12167
|
0.21789
|
NM_001166686.2(PFKM):c.5A>T (p.His2Leu)
|
rs11609399
|
0.21767
|
NM_000512.5(GALNS):c.*701C>G
|
rs77936719
|
0.21621
|
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)
|
rs1385129
|
0.21537
|
NM_000340.2(SLC2A2):c.776-15C>T
|
rs5406
|
0.21500
|
NM_000340.2(SLC2A2):c.*1222T>A
|
rs55989805
|
0.21407
|
NM_000262.3(NAGA):c.598-15C>T
|
rs2854827
|
0.21339
|
NM_000352.6(ABCC8):c.4119+93G>T
|
rs4148644
|
0.21307
|
NM_000404.4(GLB1):c.1233+8T>C
|
rs13093698
|
0.21250
|
NM_002863.5(PYGL):c.2016C>T (p.Thr672=)
|
rs15669
|
0.21064
|
NM_002076.4(GNS):c.*269C>T
|
rs2279597
|
0.21062
|
NM_000512.5(GALNS):c.634-19G>A
|
rs12934499
|
0.20916
|
NM_000284.4(PDHA1):c.*1377G>A
|
rs56039350
|
0.20892
|
NM_005609.4(PYGM):c.243+48A>G
|
rs477549
|
0.20413
|
NM_005609.3(PYGM):c.-381T>C
|
rs483962
|
0.20383
|
NM_000152.5(GAA):c.1581G>A (p.Arg527=)
|
rs1042396
|
0.20175
|
NM_000340.2(SLC2A2):c.*1257C>T
|
rs55679742
|
0.20048
|
NM_002863.4(PYGL):c.-127A>G
|
rs67490748
|
0.20002
|
NM_000512.5(GALNS):c.1483-32G>C
|
rs11076716
|
0.19802
|
NM_014026.6(DCPS):c.189C>T (p.Phe63=)
|
rs695029
|
0.19665
|
NM_000152.5(GAA):c.*419G>T
|
rs7567
|
0.19631
|
NM_003477.2(PDHX):c.-202A>G
|
rs113073242
|
0.19613
|
NM_015957.4(APIP):c.57+77C>T
|
rs16926448
|
0.19609
|
NM_003477.3(PDHX):c.108T>C (p.Ser36=)
|
rs1049307
|
0.19592
|
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)
|
rs1049306
|
0.19588
|
NM_175914.5(HNF4A):c.427-197A>C
|
rs11574739
|
0.19545
|
NM_175914.5(HNF4A):c.427-52G>A
|
rs3212195
|
0.19516
|
NM_000027.4(AGA):c.281+13T>G
|
rs34241758
|
0.19395
|
NM_000289.6(PFKM):c.639-85T>C
|
rs2286020
|
0.19143
|
NM_175914.5(HNF4A):c.320-204C>G
|
rs13041396
|
0.19053
|
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met)
|
rs2305777
|
0.19038
|
NM_175914.5(HNF4A):c.426+140C>G
|
rs11574738
|
0.19031
|
NM_000289.6(PFKM):c.516C>T (p.Thr172=)
|
rs1049392
|
0.18973
|
NM_000162.5(GCK):c.*332G>A
|
rs13306388
|
0.18894
|
NM_006859.4(LIAS):c.45+15G>A
|
rs2687959
|
0.18886
|
NM_001164277.2(SLC37A4):c.*418T>C
|
rs11006
|
0.18616
|
NM_021957.4(GYS2):c.942-17G>A
|
rs8192697
|
0.18537
|
NM_002299.4(LCT):c.5111+23C>T
|
rs3213890
|
0.18490
|
NM_003477.2(PDHX):c.-124G>C
|
rs375130125
|
0.18392
|
NM_005670.4(EPM2A):c.402G>A (p.Gly134=)
|
rs35230590
|
0.18342
|
NM_175914.5(HNF4A):c.50-5C>T
|
rs745975
|
0.17964
|
NM_000458.4(HNF1B):c.*384A>G
|
rs1058166
|
0.17933
|
NM_014806.5(RUSC2):c.3342-10C>T
|
rs2295842
|
0.17831
|
NM_002863.5(PYGL):c.*7G>C
|
rs1042266
|
0.17763
|
NM_001064.4(TKT):c.749-15G>A
|
rs17234092
|
0.17692
|
NM_002591.4(PCK1):c.282C>T (p.Ile94=)
|
rs6070157
|
0.17400
|
NM_016203.4(PRKAG2):c.467-12630G>T
|
rs1860746
|
0.17340
|
NM_000203.5(IDUA):c.1727+72T>G
|
rs2305488
|
0.17150
|
NM_000203.5(IDUA):c.1402+36T>C
|
rs115134980
|
0.17107
|
NM_000203.5(IDUA):c.972+48A>G
|
rs6811373
|
0.17097
|
NM_000203.5(IDUA):c.543T>C (p.Asn181=)
|
rs6815946
|
0.16952
|
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)
|
rs11537641
|
0.16943
|
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)
|
rs73066479
|
0.16867
|
NM_000203.5(IDUA):c.1467C>T (p.Arg489=)
|
rs115929690
|
0.16835
|
NM_000203.5(IDUA):c.942G>C (p.Ala314=)
|
rs6830825
|
0.16834
|
NM_012434.5(SLC17A5):c.819+52G>A
|
rs520589
|
0.16798
|
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)
|
rs6831280
|
0.16782
|
NM_012434.5(SLC17A5):c.819+79T>G
|
rs558839
|
0.16769
|
NM_001739.2(CA5A):c.807A>T (p.Ala269=)
|
rs72816311
|
0.16645
|
NM_012434.5(SLC17A5):c.820-51C>G
|
rs611580
|
0.16614
|
NM_012434.5(SLC17A5):c.978+70G>A
|
rs610260
|
0.16613
|
NM_012434.5(SLC17A5):c.978+88C>T
|
rs474661
|
0.16611
|
NM_000152.5(GAA):c.642C>T (p.Ser214=)
|
rs1800301
|
0.16610
|
NM_000203.5(IDUA):c.1164G>C (p.Thr388=)
|
rs6836258
|
0.16540
|
NM_002863.5(PYGL):c.1020C>T (p.Asp340=)
|
rs2075643
|
0.16448
|
NM_000289.6(PFKM):c.2093-14A>G
|
rs11168427
|
0.16418
|
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)
|
rs2228500
|
0.16379
|
NM_000289.6(PFKM):c.-8-86G>T
|
rs2269935
|
0.16268
|
NM_001739.2(CA5A):c.453C>T (p.Pro151=)
|
rs7186698
|
0.16216
|
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)
|
rs1799858
|
0.16150
|
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=)
|
rs13181449
|
0.16076
|
NM_001164277.2(SLC37A4):c.-195-64C>T
|
rs56258965
|
0.15980
|
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=)
|
rs5404
|
0.15665
|
NM_000213.5(ITGB4):c.5054-15A>G
|
rs8078247
|
0.15459
|
NM_002299.4(LCT):c.4329C>T (p.Gly1443=)
|
rs3739022
|
0.15421
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_000030.3(AGXT):c.264C>T (p.Ala88=)
|
rs35698882
|
0.15328
|
NM_175914.5(HNF4A):c.427-96C>G
|
rs3212194
|
0.15252
|
NM_000030.3(AGXT):c.942+127C>T
|
rs111576306
|
0.15015
|
NC_000003.12:g.171027104G>A
|
rs5394
|
0.15011
|
NM_000175.5(GPI):c.489A>G (p.Gly163=)
|
rs1801015
|
0.14862
|
NM_000030.3(AGXT):c.680+17C>T
|
rs11693280
|
0.14843
|
NM_000030.3(AGXT):c.358+13C>T
|
rs34995778
|
0.14826
|
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)
|
rs1805036
|
0.14682
|
NM_000203.5(IDUA):c.1524+41G>T
|
rs188458034
|
0.14666
|
NM_002591.4(PCK1):c.826G>A (p.Glu276Lys)
|
rs11552145
|
0.14626
|
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=)
|
rs3822434
|
0.14485
|
NM_001042351.2(G6PD):c.-111A>G
|
rs111827785
|
0.14433
|
NM_031229.4(RBCK1):c.261+15G>T
|
rs11698154
|
0.14404
|
NM_000343.4(SLC5A1):c.*2245C>T
|
rs9621386
|
0.14372
|
NM_016203.4(PRKAG2):c.-26C>T
|
rs66628686
|
0.14343
|
NM_006516.2(SLC2A1):c.-490G>C
|
rs3754226
|
0.14227
|
NM_001365304.2(LOC112694756):c.*1508+17G>T
|
rs2071390
|
0.13976
|
NM_000046.5(ARSB):c.691-22T>C
|
rs6870443
|
0.13972
|
NM_005327.7(HADH):c.-38T>C
|
rs17550794
|
0.13904
|
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)
|
rs55834942
|
0.13864
|
NM_000152.5(GAA):c.2331+24T>C
|
rs2304831
|
0.13841
|
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser)
|
rs3753494
|
0.13698
|
NM_000925.4(PDHB):c.935-146G>C
|
rs6445980
|
0.13601
|
NM_000512.5(GALNS):c.244+19C>T
|
rs35137494
|
0.13406
|
NM_005327.7(HADH):c.257= (p.Leu86=)
|
rs4956145
|
0.13339
|
NM_138801.3(GALM):c.568A>T (p.Asn190Tyr)
|
rs6741892
|
0.13096
|
NM_175914.5(HNF4A):c.*392T>G
|
rs11086926
|
0.13032
|
NM_005566.4(LDHA):c.348C>A (p.Ile116=)
|
rs6498
|
0.12798
|
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=)
|
rs173135
|
0.12771
|
NM_003477.3(PDHX):c.-4C>G
|
rs3818401
|
0.12767
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
NM_000158.4(GBE1):c.143+10G>T
|
rs9820490
|
0.12510
|
NM_000293.3(PHKB):c.775-6G>C
|
rs56268318
|
0.12475
|
NM_000046.5(ARSB):c.1126G>A (p.Val376Met)
|
rs1071598
|
0.12316
|
NM_000030.3(AGXT):c.847-83G>T
|
rs11894759
|
0.12217
|
NM_000152.5(GAA):c.*91G>A
|
rs2229221
|
0.12196
|
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
NM_022895.3(C12orf43):c.*1693C>T
|
rs41279096
|
0.11781
|
NM_175914.5(HNF4A):c.*2366G>C
|
rs3212211
|
0.11643
|
NM_000199.5(SGSH):c.89-45G>A
|
rs9900509
|
0.11554
|
NM_000147.4(FUCA1):c.-12T>C
|
rs2070954
|
0.11405
|
NM_000152.5(GAA):c.921A>T (p.Ala307=)
|
rs1800303
|
0.11304
|
NM_000199.5(SGSH):c.89-39G>A
|
rs9900502
|
0.11282
|
NM_017755.6(NSUN2):c.*99G>A
|
rs3776448
|
0.11157
|
NM_000404.4(GLB1):c.76-4426C>T
|
rs9865342
|
0.11155
|
NM_001164277.2(SLC37A4):c.626+19C>T
|
rs741811
|
0.11102
|
NM_000108.5(DLD):c.*28G>T
|
rs17154615
|
0.10964
|
NM_005609.4(PYGM):c.2313-47T>C
|
rs569602
|
0.10954
|
NM_198586.3(NHLRC1):c.312T>C (p.His104=)
|
rs115931931
|
0.10897
|
NM_000507.4(FBP1):c.-194C>T
|
rs2296707
|
0.10821
|
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
NM_001160372.4(TRAPPC9):c.2431+7G>A
|
rs11166964
|
0.10663
|
NM_000404.4(GLB1):c.458-11T>C
|
rs34204221
|
0.10591
|
NM_005609.4(PYGM):c.1827+7A>G
|
rs532747
|
0.10554
|
NM_003477.3(PDHX):c.798T>C (p.Pro266=)
|
rs61760973
|
0.10477
|
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=)
|
rs1061361
|
0.10447
|
NM_001360016.2(G6PD):c.121-135A>G
|
rs762515
|
0.10367
|
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr)
|
rs11669628
|
0.10133
|
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
NM_000152.5(GAA):c.1374C>T (p.Tyr458=)
|
rs1800305
|
0.10079
|
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp)
|
rs2070955
|
0.10031
|
NM_005908.4(MANBA):c.315G>A (p.Thr105=)
|
rs6857760
|
0.10011
|
NM_015028.4(TNIK):c.2682C>T (p.Ser894=)
|
rs16855789
|
0.09929
|
NM_002294.3(LAMP2):c.*1314T>C
|
rs5957381
|
0.09876
|
NM_000046.5(ARSB):c.*3181T>G
|
rs11750774
|
0.09828
|
NM_000891.3(KCNJ2):c.*1069C>T
|
rs45603434
|
0.09819
|
NM_002294.3(LAMP2):c.*297A>C
|
rs8160
|
0.09815
|
NM_002294.3(LAMP2):c.*3248G>A
|
rs5957380
|
0.09812
|
NM_001159287.1(TPI1):c.69A>G (p.Arg23=)
|
rs1800200
|
0.09809
|
NM_000175.5(GPI):c.762G>A (p.Lys254=)
|
rs1864139
|
0.09803
|
NM_002294.3(LAMP2):c.*4671C>T
|
rs1045953
|
0.09801
|
NM_002103.5(GYS1):c.-182T>G
|
rs2287755
|
0.09792
|
NM_002294.3(LAMP2):c.*486A>G
|
rs5957383
|
0.09784
|
NM_002863.5(PYGL):c.664G>A (p.Val222Ile)
|
rs946616
|
0.09756
|
NM_002294.3(LAMP2):c.*2395A>G
|
rs10127185
|
0.09686
|
NM_001360016.2(G6PD):c.864+163C>T
|
rs5986990
|
0.09646
|
NM_002294.3(LAMP2):c.*2261A>G
|
rs12395643
|
0.09416
|
NM_002591.4(PCK1):c.799A>G (p.Ile267Val)
|
rs8192708
|
0.09315
|
NM_000158.4(GBE1):c.579G>A (p.Lys193=)
|
rs17019144
|
0.09257
|
NM_002076.4(GNS):c.363G>A (p.Lys121=)
|
rs2230291
|
0.09139
|
NM_000152.5(GAA):c.693-49C>T
|
rs78855075
|
0.09045
|
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)
|
rs3817641
|
0.08986
|
NM_005609.4(PYGM):c.1768+51C>T
|
rs686171
|
0.08974
|
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)
|
rs35836657
|
0.08930
|
NM_000158.4(GBE1):c.342C>T (p.Tyr114=)
|
rs13320194
|
0.08854
|
NM_000512.5(GALNS):c.634-20C>T
|
rs17603837
|
0.08794
|
NM_000365.6(TPI1):c.*420T>C
|
rs58194764
|
0.08694
|
NM_005271.5(GLUD1):c.942A>G (p.Leu314=)
|
rs9421572
|
0.08685
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_198586.3(NHLRC1):c.*621T>A
|
rs10949481
|
0.08640
|
NM_002294.3(LAMP2):c.*2460A>G
|
rs10127182
|
0.08629
|
NM_003384.3(VRK1):c.1159+43C>G
|
rs45457797
|
0.08564
|
NM_002294.3(LAMP2):c.*2195T>C
|
rs13441024
|
0.08473
|
NM_003597.5(KLF11):c.*544C>A
|
rs4444493
|
0.08457
|
NM_002591.4(PCK1):c.*431T>C
|
rs28359554
|
0.08366
|
NM_000458.4(HNF1B):c.1654-106C>T
|
rs8066605
|
0.08136
|
NM_005327.7(HADH):c.*109T>A
|
rs221347
|
0.07950
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
NM_003597.5(KLF11):c.*435A>T
|
rs72786612
|
0.07883
|
NM_000199.5(SGSH):c.*833A>G
|
rs2012452
|
0.07846
|
NM_000035.4(ALDOB):c.*505C>A
|
rs17772845
|
0.07844
|
NM_000035.4(ALDOB):c.*897G>A
|
rs17772839
|
0.07843
|
NM_000035.4(ALDOB):c.*552T>A
|
rs41308902
|
0.07841
|
NM_000035.4(ALDOB):c.*612A>G
|
rs41296049
|
0.07833
|
NM_175914.5(HNF4A):c.670+196G>A
|
rs11086925
|
0.07736
|
NM_002103.5(GYS1):c.-125C>T
|
rs2287754
|
0.07560
|
NM_000035.4(ALDOB):c.*206C>A
|
rs17772869
|
0.07315
|
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys)
|
rs16945474
|
0.07291
|
NM_000404.4(GLB1):c.734-112T>C
|
rs80059915
|
0.07289
|
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser)
|
rs34544747
|
0.07202
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_002863.5(PYGL):c.153C>T (p.Asp51=)
|
rs77316189
|
0.07133
|
NM_000891.3(KCNJ2):c.*624G>A
|
rs9302915
|
0.07098
|
NM_000925.4(PDHB):c.701-41G>A
|
rs4585221
|
0.06991
|
NM_198586.3(NHLRC1):c.*336G>A
|
rs10949482
|
0.06918
|
NM_000404.4(GLB1):c.1561= (p.Cys521=)
|
rs4302331
|
0.06888
|
NM_000891.3(KCNJ2):c.*558C>T
|
rs9302914
|
0.06842
|
NM_002294.3(LAMP2):c.*1096T>C
|
rs5957382
|
0.06824
|
NM_000891.3(KCNJ2):c.*136G>A
|
rs73998781
|
0.06798
|
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=)
|
rs7221086
|
0.06793
|
NM_000891.3(KCNJ2):c.*1198A>G
|
rs9895478
|
0.06787
|
NM_000891.3(KCNJ2):c.*1251C>T
|
rs9894661
|
0.06785
|
NM_000891.3(KCNJ2):c.*1266C>T
|
rs9894677
|
0.06783
|
NM_033159.4(HYAL1):c.*492C>T
|
rs1283
|
0.06762
|
NM_000891.3(KCNJ2):c.*832G>A
|
rs10083831
|
0.06743
|
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala)
|
rs2228389
|
0.06703
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06691
|
NM_001352514.2(HLCS):c.*259T>C
|
rs73398122
|
0.06633
|
NM_001931.5(DLAT):c.975+16G>T
|
rs539991
|
0.06626
|
NM_000046.5(ARSB):c.*1469C>T
|
rs55710452
|
0.06599
|
NM_006516.4(SLC2A1):c.966C>T (p.Val322=)
|
rs2229680
|
0.06553
|
NM_000162.5(GCK):c.-84C>G
|
rs13306391
|
0.06548
|
NM_002076.4(GNS):c.*942A>G
|
rs12309081
|
0.06453
|
NM_002076.4(GNS):c.*411G>A
|
rs11175525
|
0.06452
|
NM_000152.5(GAA):c.2040+66C>T
|
rs2304835
|
0.06422
|
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)
|
rs3208406
|
0.06407
|
NM_000152.5(GAA):c.1754+12G>A
|
rs2304840
|
0.06396
|
NM_000284.4(PDHA1):c.*614G>T
|
rs5955761
|
0.06313
|
NC_000008.11:g.11573132C>T
|
rs61199332
|
0.06287
|
NM_006488.3(KHK):c.-449T>G
|
rs116028777
|
0.06231
|
NM_006488.3(KHK):c.-444C>A
|
rs116365550
|
0.06226
|
NM_006488.3(KHK):c.210-328A>G
|
rs74537742
|
0.06212
|
NM_000289.6(PFKM):c.427+52G>A
|
rs41291961
|
0.06210
|
NM_000458.4(HNF1B):c.1534+252G>C
|
rs72830475
|
0.06206
|
NM_000289.6(PFKM):c.246G>A (p.Thr82=)
|
rs2228501
|
0.06196
|
NM_000162.5(GCK):c.*477C>T
|
rs2908275
|
0.06179
|
NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr)
|
rs17857452
|
0.06173
|
NM_000289.6(PFKM):c.1880+32G>C
|
rs4075914
|
0.06152
|
NM_000158.4(GBE1):c.*152C>A
|
rs9820089
|
0.06146
|
NM_000152.5(GAA):c.2040+69A>G
|
rs2304834
|
0.06120
|
NM_000108.5(DLD):c.684+7G>A
|
rs75123588
|
0.06110
|
NM_198586.3(NHLRC1):c.*626C>T
|
rs10949480
|
0.06100
|
NM_000458.4(HNF1B):c.344+228G>C
|
rs113656333
|
0.06093
|
NM_000458.4(HNF1B):c.345-228C>G
|
rs75979306
|
0.06037
|
NM_000284.4(PDHA1):c.*1598G>C
|
rs11094770
|
0.06012
|
NM_022895.3(C12orf43):c.*2358C>T
|
rs11065390
|
0.05950
|
NM_001041.4(SI):c.4842-4C>T
|
rs78032315
|
0.05892
|
NM_000262.3(NAGA):c.*1035G>A
|
rs62238588
|
0.05880
|
NM_000262.3(NAGA):c.957+4C>G
|
rs55715427
|
0.05864
|
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)
|
rs1800314
|
0.05752
|
NM_000152.5(GAA):c.1636+43G>T
|
rs2304842
|
0.05728
|
NM_001041.4(SI):c.4779T>C (p.Phe1593=)
|
rs78428100
|
0.05635
|
NM_006859.4(LIAS):c.507A>G (p.Glu169=)
|
rs35086467
|
0.05609
|
NM_016302.4(CRBN):c.735T>C (p.Tyr245=)
|
rs17027638
|
0.05605
|
NM_000308.4(CTSA):c.219C>G (p.Pro73=)
|
rs742035
|
0.05580
|
NM_000152.5(GAA):c.*3G>A
|
rs1800317
|
0.05534
|
NM_012434.5(SLC17A5):c.979-33G>A
|
rs12199937
|
0.05489
|
NM_000046.5(ARSB):c.972A>G (p.Gly324=)
|
rs72762973
|
0.05483
|
NM_012434.5(SLC17A5):c.*193A>G
|
rs3734517
|
0.05453
|
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=)
|
rs61737536
|
0.05436
|
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg)
|
rs2230307
|
0.05399
|
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)
|
rs3757112
|
0.05389
|
NM_012434.5(SLC17A5):c.292-22T>C
|
rs12206001
|
0.05386
|
NM_000035.4(ALDOB):c.*122G>A
|
rs41310087
|
0.05383
|
NM_000642.3(AGL):c.3700+32T>C
|
rs834575
|
0.05338
|
NM_000152.5(GAA):c.1888+21G>A
|
rs2304837
|
0.05276
|
NM_001041.4(SI):c.5405C>G (p.Thr1802Ser)
|
rs9917722
|
0.05238
|
NM_001041.4(SI):c.5197+8C>T
|
rs6799858
|
0.05235
|
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser)
|
rs2303269
|
0.05170
|
NM_000512.5(GALNS):c.244+49C>T
|
rs13334220
|
0.05168
|
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)
|
rs73826339
|
0.05158
|
NM_003477.3(PDHX):c.*173G>A
|
rs75863418
|
0.05112
|
NM_003477.3(PDHX):c.*200T>C
|
rs16926653
|
0.05109
|
NM_003477.3(PDHX):c.339C>T (p.Ile113=)
|
rs34582941
|
0.05105
|
NM_000512.5(GALNS):c.898+42G>C
|
rs76095307
|
0.05085
|
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)
|
rs8192690
|
0.05059
|
NM_000046.5(ARSB):c.1362G>A (p.Pro454=)
|
rs35757003
|
0.04998
|
NM_003477.3(PDHX):c.241+3G>A
|
rs78878052
|
0.04995
|
NM_003477.3(PDHX):c.*890T>C
|
rs1049333
|
0.04989
|
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=)
|
rs71646895
|
0.04951
|
NM_016203.4(PRKAG2):c.114+12C>T
|
rs77902041
|
0.04935
|
NM_000512.5(GALNS):c.758+22C>T
|
rs78317153
|
0.04917
|
NM_006516.4(SLC2A1):c.*1213G>T
|
rs55728431
|
0.04893
|
NM_000203.5(IDUA):c.891C>T (p.Asn297=)
|
rs114806891
|
0.04874
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
NM_001041.4(SI):c.*426G>A
|
rs111300332
|
0.04763
|
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln)
|
rs33954001
|
0.04760
|
NM_153281.2(HYAL1):c.-132G>A
|
rs12488302
|
0.04741
|
NM_000891.3(KCNJ2):c.*2752T>C
|
rs993085233
|
0.04719
|
NM_001360016.2(G6PD):c.486-60C>G
|
rs2515904
|
0.04673
|
NM_001352514.2(HLCS):c.*521C>T
|
rs9967991
|
0.04663
|
NM_000512.5(GALNS):c.*524G>C
|
rs3759946
|
0.04660
|
NM_001715.3(BLK):c.*92G>C
|
rs14053
|
0.04621
|
NM_000155.4(GALT):c.378-27G>C
|
rs41274865
|
0.04615
|
NM_000155.4(GALT):c.508-24G>A
|
rs41274867
|
0.04612
|
NM_000155.4(GALT):c.507+62G>A
|
rs2277202
|
0.04610
|
NM_002863.5(PYGL):c.93T>C (p.Ser31=)
|
rs17123244
|
0.04608
|
NM_152419.3(HGSNAT):c.*1216G>A
|
rs73569597
|
0.04598
|
NM_024989.4(PGAP1):c.1862-3C>T
|
rs73988069
|
0.04584
|
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=)
|
rs17683448
|
0.04560
|
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=)
|
rs33954397
|
0.04560
|
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr)
|
rs17683430
|
0.04557
|
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser)
|
rs17683011
|
0.04555
|
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=)
|
rs17683704
|
0.04554
|
NM_000512.5(GALNS):c.898+25C>G
|
rs113936280
|
0.04554
|
NM_000891.3(KCNJ2):c.*2758T>C
|
rs1324652195
|
0.04554
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
NM_152419.3(HGSNAT):c.*1780C>T
|
rs1058608
|
0.04517
|
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)
|
rs11553595
|
0.04510
|
NM_000512.5(GALNS):c.599C>T (p.Thr200Met)
|
rs7187889
|
0.04495
|
NM_000199.5(SGSH):c.746-4A>G
|
rs7218267
|
0.04487
|
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=)
|
rs34123220
|
0.04470
|
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg)
|
rs116482870
|
0.04448
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
NM_000642.3(AGL):c.686A>G (p.Gln229Arg)
|
rs17121403
|
0.04398
|
NM_005908.4(MANBA):c.*356G>A
|
rs7672268
|
0.04355
|
NM_000108.5(DLD):c.1351C>T (p.Leu451=)
|
rs1803921
|
0.04354
|
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly)
|
rs34745339
|
0.04350
|
NM_002591.4(PCK1):c.873C>T (p.Thr291=)
|
rs28359547
|
0.04342
|
NM_000507.4(FBP1):c.276G>T (p.Thr92=)
|
rs16910744
|
0.04339
|
NM_005908.4(MANBA):c.831A>G (p.Leu277=)
|
rs17033168
|
0.04331
|
NM_002076.4(GNS):c.*1990A>G
|
rs17100600
|
0.04306
|
NM_002076.4(GNS):c.*566A>G
|
rs17100604
|
0.04303
|
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=)
|
rs33943816
|
0.04197
|
NM_000152.5(GAA):c.1754+104C>G
|
rs2304839
|
0.04194
|
NM_005327.7(HADH):c.636+13G>A
|
rs17511214
|
0.04139
|
NM_000045.4(ARG1):c.270C>T (p.Asn90=)
|
rs34504481
|
0.04124
|
NM_175914.5(HNF4A):c.*305A>G
|
rs56343153
|
0.04078
|
NM_175914.5(HNF4A):c.*242T>C
|
rs41282030
|
0.04068
|
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)
|
rs61732502
|
0.04059
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_000152.5(GAA):c.2189+95C>T
|
rs72850840
|
0.04030
|
NM_004130.4(GYG1):c.114C>T (p.Leu38=)
|
rs61733452
|
0.04021
|
NM_005327.4(HADH):c.*818A>G
|
rs17511319
|
0.03973
|
NM_006488.3(KHK):c.*580T>C
|
rs7573066
|
0.03950
|
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn)
|
rs25414
|
0.03947
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=)
|
rs28763998
|
0.03936
|
NM_000154.2(GALK1):c.189G>A (p.Leu63=)
|
rs7211385
|
0.03914
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_000151.4(G6PC1):c.*877T>C
|
rs72826982
|
0.03829
|
NM_017755.6(NSUN2):c.622+7A>T
|
rs16877704
|
0.03788
|
NM_000512.5(GALNS):c.846C>T (p.Phe282=)
|
rs35232749
|
0.03726
|
NM_175914.5(HNF4A):c.135C>T (p.Ala45=)
|
rs736823
|
0.03705
|
NM_002076.4(GNS):c.1650T>C (p.His550=)
|
rs2230292
|
0.03695
|
NM_000512.5(GALNS):c.510T>C (p.Tyr170=)
|
rs3743544
|
0.03694
|
NM_000046.5(ARSB):c.*60G>A
|
rs2173012
|
0.03683
|
NM_006488.3(KHK):c.-324C>T
|
rs114973335
|
0.03642
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_000284.4(PDHA1):c.-88G>A
|
rs5955751
|
0.03606
|
NM_005609.4(PYGM):c.1494C>T (p.Pro498=)
|
rs11231865
|
0.03592
|
NM_012203.2(GRHPR):c.*146A>G
|
rs1057507
|
0.03576
|
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val)
|
rs114703967
|
0.03559
|
NM_002300.8(LDHB):c.-81G>C
|
rs74069329
|
0.03540
|
NM_000434.4(NEU1):c.-40T>G
|
rs41267082
|
0.03529
|
NM_152419.3(HGSNAT):c.*1231G>A
|
rs61743005
|
0.03511
|
NM_001159287.1(TPI1):c.66G>A (p.Pro22=)
|
rs1800201
|
0.03488
|
NM_001352514.2(HLCS):c.1960+16T>A
|
rs73398135
|
0.03462
|
NM_000352.6(ABCC8):c.-49G>C
|
rs77498130
|
0.03452
|
NM_000199.5(SGSH):c.664-50G>A
|
rs117217614
|
0.03422
|
NM_002294.3(LAMP2):c.*1071G>T
|
rs2285548
|
0.03391
|
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)
|
rs2230036
|
0.03373
|
NM_001739.2(CA5A):c.138C>A (p.Asn46Lys)
|
rs74041853
|
0.03363
|
NM_000035.4(ALDOB):c.-10-209A>G
|
rs113443424
|
0.03318
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
NM_001040716.2(PC):c.2224-9T>G
|
rs45560936
|
0.03311
|
NM_000046.5(ARSB):c.*202A>G
|
rs73770019
|
0.03289
|
NM_000284.4(PDHA1):c.604-15C>T
|
rs13440874
|
0.03269
|
NM_005271.5(GLUD1):c.1060-10T>A
|
rs17096421
|
0.03225
|
NM_002299.4(LCT):c.4977-26T>C
|
rs3213891
|
0.03191
|
NM_002294.3(LAMP2):c.*1589A>G
|
rs73612906
|
0.03180
|
NM_000203.5(IDUA):c.300-44C>T
|
rs3755956
|
0.03133
|
NM_006721.4(ADK):c.705T>C (p.Asp235=)
|
rs16931480
|
0.03126
|
NM_000262.3(NAGA):c.*143C>T
|
rs17002832
|
0.03106
|
NM_005908.4(MANBA):c.*317A>G
|
rs78514870
|
0.03053
|
NM_031229.4(RBCK1):c.144G>A (p.Glu48=)
|
rs41281892
|
0.03013
|
NM_000292.3(PHKA2):c.2361-12A>C
|
rs148877451
|
0.02944
|
NM_000290.4(PGAM2):c.324G>A (p.Gly108=)
|
rs112828964
|
0.02943
|
NM_000458.4(HNF1B):c.*777G>A
|
rs17138512
|
0.02929
|
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=)
|
rs118117962
|
0.02913
|
NM_000458.4(HNF1B):c.*47T>G
|
rs8068014
|
0.02908
|
NM_003597.5(KLF11):c.*1781T>C
|
rs6722205
|
0.02856
|
NM_000262.3(NAGA):c.*1814C>T
|
rs80313011
|
0.02824
|
NM_000155.4(GALT):c.876G>A (p.Thr292=)
|
rs1055607
|
0.02790
|
NM_053013.4(ENO3):c.1236-17C>T
|
rs77614413
|
0.02756
|
NM_053013.4(ENO3):c.240+17G>A
|
rs75279666
|
0.02755
|
NM_000411.8(HLCS):c.-393+11G>T
|
rs557368288
|
0.02745
|
NM_002591.4(PCK1):c.1102G>A (p.Val368Ile)
|
rs1804160
|
0.02728
|
NM_002591.4(PCK1):c.705C>T (p.Tyr235=)
|
rs28359544
|
0.02719
|
NM_138413.4(HOGA1):c.396G>A (p.Ala132=)
|
rs41290456
|
0.02716
|
NM_002637.4(PHKA1):c.429C>T (p.Leu143=)
|
rs138066694
|
0.02710
|
NM_006765.4(TUSC3):c.912G>A (p.Ser304=)
|
rs17121892
|
0.02710
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
NM_000108.5(DLD):c.685-14T>A
|
rs80111449
|
0.02691
|
NM_000340.2(SLC2A2):c.*234C>A
|
rs79424762
|
0.02686
|
NM_001931.5(DLAT):c.693C>T (p.Thr231=)
|
rs34680691
|
0.02685
|
NM_000343.4(SLC5A1):c.*902T>G
|
rs16989883
|
0.02647
|
NM_003477.3(PDHX):c.641+4T>C
|
rs2767035
|
0.02645
|
NM_000365.6(TPI1):c.544-10C>G
|
rs115061797
|
0.02638
|
NM_006859.4(LIAS):c.737+13A>T
|
rs79572060
|
0.02580
|
NM_006859.4(LIAS):c.306C>A (p.Leu102=)
|
rs61731032
|
0.02579
|
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr)
|
rs77696629
|
0.02562
|
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=)
|
rs35880640
|
0.02554
|
NM_021957.4(GYS2):c.2067C>T (p.His689=)
|
rs7954038
|
0.02548
|
NM_021957.4(GYS2):c.1464A>G (p.Leu488=)
|
rs35403985
|
0.02543
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_000262.3(NAGA):c.*12A>C
|
rs2229547
|
0.02530
|
NM_000545.8(HNF1A):c.1501+68A>G
|
rs55919842
|
0.02520
|
NM_000151.4(G6PC1):c.*727T>C
|
rs80193931
|
0.02511
|
NM_138413.4(HOGA1):c.-279G>A
|
rs41309988
|
0.02511
|
NM_002294.3(LAMP2):c.*205C>T
|
rs41300191
|
0.02502
|
NM_152419.3(HGSNAT):c.*585T>C
|
rs73675470
|
0.02497
|
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile)
|
rs73675469
|
0.02491
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)
|
rs1800961
|
0.02469
|
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile)
|
rs58786455
|
0.02463
|
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)
|
rs34885252
|
0.02454
|
NM_000199.5(SGSH):c.249+52G>A
|
rs113672699
|
0.02447
|
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser)
|
rs61756062
|
0.02444
|
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)
|
rs11539201
|
0.02438
|
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)
|
rs77214077
|
0.02424
|
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys)
|
rs77325391
|
0.02424
|
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala)
|
rs34712643
|
0.02415
|
NM_000181.4(GUSB):c.*172A>G
|
rs77293332
|
0.02406
|
NM_000151.4(G6PC1):c.432G>A (p.Pro144=)
|
rs161628
|
0.02402
|
NM_005908.4(MANBA):c.1482G>T (p.Leu494=)
|
rs74718667
|
0.02371
|
NM_000891.3(KCNJ2):c.*1596A>C
|
rs117409545
|
0.02347
|
NM_000365.6(TPI1):c.631+13G>A
|
rs60115912
|
0.02344
|
NM_024989.4(PGAP1):c.534T>G (p.Leu178=)
|
rs35444896
|
0.02335
|
NM_003477.3(PDHX):c.507C>T (p.Ile169=)
|
rs79170416
|
0.02292
|
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp)
|
rs181415619
|
0.02251
|
NM_175914.5(HNF4A):c.*700T>C
|
rs114764820
|
0.02223
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_006488.3(KHK):c.*754T>C
|
rs73921452
|
0.02190
|
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)
|
rs116605521
|
0.02188
|
NM_005327.4(HADH):c.-71C>T
|
rs760202
|
0.02185
|
NM_000284.4(PDHA1):c.*392G>A
|
rs56318063
|
0.02182
|
NM_005327.4(HADH):c.-193G>A
|
rs10017687
|
0.02168
|
NM_000512.5(GALNS):c.*296A>G
|
rs79507351
|
0.02153
|
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu)
|
rs16924002
|
0.02117
|
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr)
|
rs61737294
|
0.02098
|
NM_002863.5(PYGL):c.772+16G>T
|
rs17123173
|
0.02096
|
NM_006488.3(KHK):c.*806G>A
|
rs113859516
|
0.02073
|
NM_000175.5(GPI):c.122+20G>A
|
rs8191360
|
0.02067
|
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)
|
rs1800574
|
0.02065
|
NM_021957.4(GYS2):c.1965G>C (p.Gln655His)
|
rs117639846
|
0.02061
|
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln)
|
rs17313469
|
0.02052
|
NM_001715.3(BLK):c.258G>A (p.Gln86=)
|
rs56185487
|
0.02041
|
NM_000528.4(MAN2B1):c.2267+3G>C
|
rs28639634
|
0.02031
|
NM_000289.6(PFKM):c.1500+32C>T
|
rs41291967
|
0.02028
|
NM_001352514.2(HLCS):c.*40A>G
|
rs77014096
|
0.02028
|
NM_175914.5(HNF4A):c.*1832G>A
|
rs4812832
|
0.02019
|
NM_001352514.2(HLCS):c.2361C>T (p.Val787=)
|
rs61732507
|
0.02015
|
NM_016219.5(MAN1B1):c.*157C>G
|
rs61545361
|
0.02001
|
NM_000289.6(PFKM):c.1342-14G>T
|
rs56117548
|
0.01990
|
NM_053013.3(ENO3):c.-88G>A
|
rs73343373
|
0.01987
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_000512.5(GALNS):c.318C>T (p.Asn106=)
|
rs34278797
|
0.01971
|
NM_000642.3(AGL):c.3588+36T>G
|
rs548255
|
0.01966
|
NM_002300.8(LDHB):c.879A>G (p.Pro293=)
|
rs4828
|
0.01958
|
NM_000154.2(GALK1):c.611+34G>A
|
rs76743658
|
0.01955
|
NM_000289.6(PFKM):c.306C>T (p.Ala102=)
|
rs11552507
|
0.01954
|
NM_001352514.2(HLCS):c.*1484A>G
|
rs78926199
|
0.01946
|
NM_001352514.2(HLCS):c.*547C>T
|
rs116526486
|
0.01940
|
NM_006755.2(TALDO1):c.*9T>C
|
rs7939103
|
0.01931
|
NM_000642.3(AGL):c.1185+15T>C
|
rs17121466
|
0.01894
|
NM_000162.5(GCK):c.*797C>T
|
rs2908276
|
0.01885
|
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu)
|
rs61744585
|
0.01884
|
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)
|
rs61234887
|
0.01841
|
NM_003041.4(SLC5A2):c.1885A>G (p.Thr629Ala)
|
rs61741237
|
0.01800
|
NM_002294.3(LAMP2):c.*2524T>C
|
rs150119198
|
0.01799
|
NM_000181.4(GUSB):c.-12G>A
|
rs2279903
|
0.01784
|
NM_003477.3(PDHX):c.531C>T (p.Pro177=)
|
rs76486106
|
0.01781
|
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met)
|
rs71581787
|
0.01778
|
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
|
rs28730701
|
0.01764
|
NM_000891.3(KCNJ2):c.*3496T>C
|
rs3815307
|
0.01760
|
NM_001008216.2(GALE):c.709+14C>G
|
rs6692104
|
0.01759
|
NM_003477.3(PDHX):c.438C>T (p.Asp146=)
|
rs75182779
|
0.01749
|
NM_003477.3(PDHX):c.*123A>G
|
rs59918794
|
0.01748
|
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser)
|
rs78558135
|
0.01732
|
NM_002076.4(GNS):c.*1456C>T
|
rs144199387
|
0.01725
|
NM_000512.5(GALNS):c.240G>A (p.Ser80=)
|
rs11865929
|
0.01724
|
NM_001807.6(CEL):c.353T>G (p.Leu118Arg)
|
rs113056079
|
0.01720
|
NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=)
|
rs34871377
|
0.01714
|
NM_017755.6(NSUN2):c.21T>C (p.Gly7=)
|
rs184594943
|
0.01714
|
NM_000188.3(HK1):c.1031+6T>C
|
rs57012387
|
0.01704
|
NM_175914.5(HNF4A):c.*2533G>A
|
rs76705771
|
0.01679
|
NM_001739.2(CA5A):c.645C>T (p.Phe215=)
|
rs149154082
|
0.01677
|
NM_006516.4(SLC2A1):c.-190G>C
|
rs114514007
|
0.01675
|
NM_002076.4(GNS):c.459+14T>C
|
rs78614637
|
0.01673
|
NM_001715.3(BLK):c.435C>T (p.Ala145=)
|
rs7836533
|
0.01672
|
NM_017755.6(NSUN2):c.537+9T>C
|
rs116785933
|
0.01651
|
NM_003619.4(PRSS12):c.*672C>T
|
rs72919299
|
0.01650
|
NM_000352.6(ABCC8):c.-19A>G
|
rs193922394
|
0.01648
|
NM_000925.4(PDHB):c.435= (p.Arg145=)
|
rs1438518070
|
0.01648
|
NM_053013.4(ENO3):c.1235+3A>G
|
rs73973669
|
0.01622
|
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp)
|
rs35289681
|
0.01618
|
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_002500.5(NEUROD1):c.590C>A (p.Pro197His)
|
rs8192556
|
0.01580
|
NM_000308.4(CTSA):c.1353G>A (p.Thr451=)
|
rs25649
|
0.01568
|
NM_012434.5(SLC17A5):c.*909C>T
|
rs142349844
|
0.01560
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_000512.5(GALNS):c.566+10C>T
|
rs77514811
|
0.01544
|
NM_000642.3(AGL):c.207T>C (p.Asn69=)
|
rs2230305
|
0.01529
|
NM_002294.3(LAMP2):c.*4562A>G
|
rs142200759
|
0.01528
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_198586.3(NHLRC1):c.*237T>C
|
rs73379118
|
0.01527
|
NM_198586.3(NHLRC1):c.*85T>A
|
rs73379121
|
0.01526
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_000642.3(AGL):c.82+1565T>G
|
rs145049634
|
0.01521
|
NM_002294.3(LAMP2):c.*1617C>T
|
rs141881232
|
0.01521
|
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)
|
rs75826658
|
0.01517
|
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala)
|
rs61733199
|
0.01511
|
NM_000175.5(GPI):c.948C>A (p.Ala316=)
|
rs8191416
|
0.01510
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
NM_000290.4(PGAM2):c.216C>T (p.Asp72=)
|
rs111656877
|
0.01481
|
NM_000030.3(AGXT):c.705G>A (p.Thr235=)
|
rs35977912
|
0.01476
|
NM_000308.4(CTSA):c.444+14C>T
|
rs6032580
|
0.01474
|
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys)
|
rs34714252
|
0.01465
|
NM_000108.5(DLD):c.*855C>T
|
rs116055514
|
0.01464
|
NM_198586.3(NHLRC1):c.*276G>C
|
rs11966748
|
0.01453
|
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln)
|
rs17121464
|
0.01447
|
NM_002294.3(LAMP2):c.*2575G>C
|
rs77126790
|
0.01447
|
NM_000404.4(GLB1):c.1824G>C (p.Leu608=)
|
rs77226678
|
0.01441
|
NM_000512.5(GALNS):c.*224C>G
|
rs111233947
|
0.01437
|
NM_002103.5(GYS1):c.693G>A (p.Lys231=)
|
rs5460
|
0.01434
|
NM_000293.3(PHKB):c.*2086A>G
|
rs9940720
|
0.01397
|
NM_002294.3(LAMP2):c.*2746A>G
|
rs3827478
|
0.01396
|
NM_000292.3(PHKA2):c.849T>A (p.Ile283=)
|
rs61733284
|
0.01392
|
NM_005271.5(GLUD1):c.342T>C (p.His114=)
|
rs142544510
|
0.01392
|
NM_000293.3(PHKB):c.318T>C (p.Asp106=)
|
rs17738933
|
0.01382
|
NM_016042.4(EXOSC3):c.*197C>T
|
rs117073203
|
0.01382
|
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile)
|
rs34297805
|
0.01381
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=)
|
rs149815494
|
0.01375
|
NM_002103.5(GYS1):c.1246A>G (p.Met416Val)
|
rs5447
|
0.01369
|
NM_001041.4(SI):c.517C>G (p.Pro173Ala)
|
rs146960446
|
0.01365
|
NM_000340.2(SLC2A2):c.*909C>T
|
rs77733690
|
0.01361
|
NM_000340.2(SLC2A2):c.1069-9T>C
|
rs5407
|
0.01360
|
NM_000340.2(SLC2A2):c.*476T>C
|
rs75975646
|
0.01358
|
NM_000340.2(SLC2A2):c.*356A>T
|
rs7610064
|
0.01356
|
NM_001040716.2(PC):c.-274A>C
|
rs192495346
|
0.01355
|
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)
|
rs16883930
|
0.01342
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
NM_017755.6(NSUN2):c.*50T>G
|
rs56282400
|
0.01331
|
NM_000352.6(ABCC8):c.4120-19C>T
|
rs1800853
|
0.01325
|
NM_006721.4(ADK):c.727-11T>C
|
rs12778270
|
0.01325
|
NM_001040716.2(PC):c.2580C>T (p.Asp860=)
|
rs45584036
|
0.01323
|
NM_000458.4(HNF1B):c.*804T>C
|
rs75361710
|
0.01316
|
NM_000262.3(NAGA):c.*1103T>C
|
rs117826003
|
0.01315
|
NM_002299.4(LCT):c.454G>A (p.Ala152Thr)
|
rs114525655
|
0.01314
|
NM_000642.3(AGL):c.3849T>C (p.Ala1283=)
|
rs28730706
|
0.01312
|
NM_003597.5(KLF11):c.659C>T (p.Thr220Met)
|
rs34336420
|
0.01310
|
NM_000263.4(NAGLU):c.764+19C>G
|
rs77738617
|
0.01306
|
NM_000343.4(SLC5A1):c.*1508C>A
|
rs8142324
|
0.01304
|
NM_002103.5(GYS1):c.420A>G (p.Gly140=)
|
rs5458
|
0.01301
|
NM_000642.3(AGL):c.*739A>G
|
rs41285742
|
0.01299
|
NM_001164277.2(SLC37A4):c.626+14C>T
|
rs56394886
|
0.01293
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
NM_000209.4(PDX1):c.162G>A (p.Leu54=)
|
rs28509441
|
0.01287
|
NM_002294.3(LAMP2):c.*2518A>G
|
rs56158197
|
0.01287
|
NM_153281.2(HYAL1):c.-414G>A
|
rs587609136
|
0.01280
|
NM_000642.3(AGL):c.3260-19G>A
|
rs140333425
|
0.01279
|
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)
|
rs149861153
|
0.01269
|
NM_002299.4(LCT):c.*325G>C
|
rs62170085
|
0.01267
|
NM_000343.4(SLC5A1):c.*795G>T
|
rs117904039
|
0.01237
|
NM_000108.5(DLD):c.675T>C (p.Gly225=)
|
rs73726765
|
0.01233
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
NM_000046.5(ARSB):c.1446A>G (p.Glu482=)
|
rs35714924
|
0.01223
|
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln)
|
rs12002324
|
0.01219
|
NM_002863.5(PYGL):c.1621-6T>C
|
rs74539788
|
0.01217
|
NM_005609.4(PYGM):c.1569C>G (p.Leu523=)
|
rs114138772
|
0.01217
|
NM_003619.4(PRSS12):c.1272T>G (p.Val424=)
|
rs2292598
|
0.01208
|
NM_175914.5(HNF4A):c.319+19C>T
|
rs112386711
|
0.01208
|
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu)
|
rs34313873
|
0.01205
|
NM_000365.6(TPI1):c.544-14G>A
|
rs72661109
|
0.01198
|
NM_001352514.2(HLCS):c.331-7111G>A
|
rs77067023
|
0.01191
|
NM_000293.3(PHKB):c.1363+13G>T
|
rs117536391
|
0.01189
|
NM_002294.3(LAMP2):c.*3249T>C
|
rs41300908
|
0.01188
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)
|
rs35145938
|
0.01185
|
NM_001040716.2(PC):c.2619C>T (p.Asn873=)
|
rs2229745
|
0.01182
|
NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg)
|
rs11302
|
0.01176
|
NM_000292.3(PHKA2):c.718-3C>T
|
rs140662042
|
0.01175
|
NM_006516.4(SLC2A1):c.19-207T>C
|
rs41310434
|
0.01173
|
NM_175914.5(HNF4A):c.*155G>A
|
rs41280258
|
0.01170
|
NM_000151.4(G6PC1):c.*1012C>T
|
rs75063448
|
0.01164
|
NM_000525.4(KCNJ11):c.*376C>T
|
rs5208
|
0.01164
|
NM_012096.3(APPL1):c.69A>G (p.Leu23=)
|
rs11544592
|
0.01160
|
NM_152419.3(HGSNAT):c.1727-9C>G
|
rs76750342
|
0.01160
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
NM_000365.6(TPI1):c.*341C>T
|
rs1804544
|
0.01157
|
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg)
|
rs116340501
|
0.01154
|
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=)
|
rs34853569
|
0.01148
|
NM_000340.2(SLC2A2):c.*474A>G
|
rs114710971
|
0.01147
|
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=)
|
rs33973317
|
0.01145
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_000343.3(SLC5A1):c.-170C>T
|
rs142248518
|
0.01139
|
NM_002103.5(GYS1):c.1549+7G>A
|
rs5449
|
0.01125
|
NM_175914.5(HNF4A):c.*1975G>A
|
rs140719706
|
0.01125
|
NM_000642.3(AGL):c.*575G>T
|
rs60880558
|
0.01122
|
NM_000642.3(AGL):c.*1244T>A
|
rs72963791
|
0.01120
|
NM_153281.2(HYAL1):c.-271G>A
|
rs115085570
|
0.01118
|
NM_005327.4(HADH):c.-65G>A
|
rs28703310
|
0.01115
|
NM_024989.4(PGAP1):c.860+12C>A
|
rs79169433
|
0.01104
|
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=)
|
rs74459402
|
0.01097
|
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu)
|
rs73569515
|
0.01096
|
NM_005566.4(LDHA):c.387G>A (p.Pro129=)
|
rs61752915
|
0.01092
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)
|
rs77290575
|
0.01088
|
NM_000343.4(SLC5A1):c.1666-5T>C
|
rs33968460
|
0.01076
|
NM_016219.5(MAN1B1):c.1255-5C>T
|
rs73569532
|
0.01076
|
NM_000512.5(GALNS):c.1278G>T (p.Gly426=)
|
rs76651187
|
0.01075
|
NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu)
|
rs61735096
|
0.01069
|
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=)
|
rs1065759
|
0.01068
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_000340.2(SLC2A2):c.*920A>C
|
rs56204521
|
0.01056
|
NM_033159.4(HYAL1):c.384C>T (p.Ile128=)
|
rs116097974
|
0.01056
|
NM_000528.4(MAN2B1):c.2436+17C>T
|
rs148420017
|
0.01054
|
NM_031466.8(TRAPPC9):c.-11+10G>A
|
rs117206975
|
0.01054
|
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp)
|
rs74342080
|
0.01054
|
NM_000343.4(SLC5A1):c.*2244C>T
|
rs114700055
|
0.01052
|
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)
|
rs35010541
|
0.01045
|
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)
|
rs76299266
|
0.01042
|
NM_000027.4(AGA):c.622+13T>C
|
rs75260482
|
0.01039
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_006488.3(KHK):c.*79G>A
|
rs75067630
|
0.01036
|
NM_006569.6(CGREF1):c.*515A>C
|
rs78413769
|
0.01034
|
NM_006721.4(ADK):c.726+11T>G
|
rs45529443
|
0.01033
|
NM_000352.6(ABCC8):c.2538C>T (p.His846=)
|
rs73423037
|
0.01028
|
NM_005908.4(MANBA):c.178-8A>G
|
rs113584126
|
0.01028
|
NM_000284.4(PDHA1):c.*1563C>G
|
rs7883708
|
0.01025
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
NM_006516.4(SLC2A1):c.973-17A>G
|
rs111596088
|
0.01025
|
NM_138413.4(HOGA1):c.777G>A (p.Thr259=)
|
rs34820265
|
0.01024
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
NM_000512.5(GALNS):c.-68C>T
|
rs144789309
|
0.01019
|
NM_000262.3(NAGA):c.*1696C>T
|
rs11703233
|
0.01015
|
NM_000352.6(ABCC8):c.423G>A (p.Val141=)
|
rs116132921
|
0.01009
|
NM_016042.4(EXOSC3):c.*296T>C
|
rs138197600
|
0.01009
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
NM_000284.4(PDHA1):c.*1682T>C
|
rs55744630
|
0.00998
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
NM_004130.4(GYG1):c.319-12C>T
|
rs114156848
|
0.00990
|
NM_000046.5(ARSB):c.*2859T>C
|
rs116826065
|
0.00988
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
NM_000108.5(DLD):c.*648G>A
|
rs57801571
|
0.00985
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
NM_053013.4(ENO3):c.994G>A (p.Val332Ile)
|
rs61735456
|
0.00983
|
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_017755.6(NSUN2):c.*581T>C
|
rs142451419
|
0.00970
|
NM_031229.4(RBCK1):c.757-15G>C
|
rs200457271
|
0.00970
|
NM_002294.3(LAMP2):c.*2162G>A
|
rs767123866
|
0.00966
|
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=)
|
rs10410289
|
0.00964
|
NM_000046.5(ARSB):c.*2654A>G
|
rs147170505
|
0.00961
|
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)
|
rs34421970
|
0.00952
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
NM_000046.5(ARSB):c.1068A>T (p.Thr356=)
|
rs16876029
|
0.00947
|
NM_000108.5(DLD):c.777A>G (p.Lys259=)
|
rs1065762
|
0.00944
|
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile)
|
rs114490852
|
0.00944
|
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly)
|
rs115335100
|
0.00943
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
NM_000108.5(DLD):c.*1300A>G
|
rs77095705
|
0.00939
|
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=)
|
rs61729452
|
0.00939
|
NM_002076.4(GNS):c.21C>G (p.Ala7=)
|
rs61743823
|
0.00937
|
NM_006488.3(KHK):c.*540G>C
|
rs60769101
|
0.00934
|
NM_000027.4(AGA):c.1023A>G (p.Glu341=)
|
rs113407270
|
0.00929
|
NM_002076.4(GNS):c.1598G>A (p.Arg533His)
|
rs61743822
|
0.00929
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_000293.3(PHKB):c.870+17T>C
|
rs75918606
|
0.00923
|
NM_000151.4(G6PC1):c.*1210C>G
|
rs144568330
|
0.00921
|
NM_000151.4(G6PC1):c.-77G>A
|
rs145752565
|
0.00919
|
NM_000108.5(DLD):c.1422A>C (p.Gly474=)
|
rs34453495
|
0.00918
|
NM_001360016.2(G6PD):c.645-17C>T
|
rs5986875
|
0.00915
|
NM_000199.5(SGSH):c.*201A>T
|
rs139066649
|
0.00913
|
NM_002103.5(GYS1):c.1926G>A (p.Val642=)
|
rs5451
|
0.00912
|
NM_000199.5(SGSH):c.*415A>G
|
rs141810727
|
0.00910
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_000181.4(GUSB):c.162C>T (p.Asn54=)
|
rs74975849
|
0.00909
|
NM_001041.4(SI):c.*198G>T
|
rs146143233
|
0.00908
|
NM_016042.4(EXOSC3):c.-12G>C
|
rs115431773
|
0.00907
|
NM_000289.6(PFKM):c.*282C>T
|
rs8977
|
0.00906
|
NM_002591.4(PCK1):c.*359G>A
|
rs3211338
|
0.00897
|
NM_000027.4(AGA):c.313C>A (p.Leu105Ile)
|
rs76491548
|
0.00896
|
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)
|
rs34355967
|
0.00892
|
NM_000207.3(INS):c.-9C>T
|
rs5505
|
0.00878
|
NM_002863.5(PYGL):c.962G>A (p.Arg321His)
|
rs116465563
|
0.00878
|
NM_012203.2(GRHPR):c.493+9C>T
|
rs41303225
|
0.00873
|
NM_144563.3(RPIA):c.858A>G (p.Leu286=)
|
rs142341148
|
0.00870
|
NM_152419.3(HGSNAT):c.*733G>T
|
rs139144727
|
0.00863
|
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala)
|
rs199722340
|
0.00862
|
NM_000512.5(GALNS):c.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
NM_000293.3(PHKB):c.2244C>G (p.Leu748=)
|
rs34717357
|
0.00851
|
NM_003619.4(PRSS12):c.*1595A>G
|
rs145858385
|
0.00851
|
NM_000151.4(G6PC1):c.*250G>A
|
rs143802152
|
0.00850
|
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His)
|
rs61732501
|
0.00850
|
NM_000151.4(G6PC1):c.*2723G>A
|
rs146698137
|
0.00848
|
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr)
|
rs34225615
|
0.00845
|
NM_006721.4(ADK):c.195-18A>G
|
rs144492760
|
0.00844
|
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn)
|
rs139579928
|
0.00843
|
NM_000202.8(IDS):c.467C>A (p.Pro156Gln)
|
rs145231211
|
0.00832
|
NM_000340.2(SLC2A2):c.*325T>A
|
rs189555280
|
0.00832
|
NM_000545.8(HNF1A):c.326+241T>C
|
rs575098936
|
0.00832
|
NM_000202.8(IDS):c.465T>A (p.Phe155Leu)
|
rs149210251
|
0.00829
|
NM_000525.4(KCNJ11):c.*76G>A
|
rs193076739
|
0.00819
|
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)
|
rs141844887
|
0.00818
|
NM_002299.4(LCT):c.301A>G (p.Ser101Gly)
|
rs35837297
|
0.00812
|
NM_002294.3(LAMP2):c.*5048A>T
|
rs113285013
|
0.00807
|
NM_002637.4(PHKA1):c.-229G>A
|
rs782474797
|
0.00807
|
NM_002299.4(LCT):c.1318G>A (p.Val440Ile)
|
rs35940156
|
0.00802
|
NM_002076.4(GNS):c.*814T>C
|
rs78614043
|
0.00798
|
NM_001365304.2(LOC112694756):c.*889-16C>A
|
rs78124282
|
0.00797
|
NM_002076.4(GNS):c.*1228C>T
|
rs115625510
|
0.00797
|
NM_002076.4(GNS):c.*1648C>T
|
rs75568735
|
0.00795
|
NM_004130.4(GYG1):c.159A>G (p.Thr53=)
|
rs148619511
|
0.00795
|
NM_053013.4(ENO3):c.1041C>T (p.Ile347=)
|
rs114208569
|
0.00794
|
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu)
|
rs59357922
|
0.00793
|
NM_003597.5(KLF11):c.*194G>A
|
rs76220150
|
0.00789
|
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala)
|
rs33951240
|
0.00787
|
NM_000512.5(GALNS):c.899-4C>G
|
rs143793386
|
0.00779
|
NM_000642.3(AGL):c.2802A>C (p.Ala934=)
|
rs34230588
|
0.00775
|
NM_002299.4(LCT):c.4347T>C (p.Phe1449=)
|
rs17699796
|
0.00774
|
NM_000545.8(HNF1A):c.326+20C>A
|
rs80051981
|
0.00772
|
NM_000340.2(SLC2A2):c.*1349C>T
|
rs112957674
|
0.00770
|
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp)
|
rs12918964
|
0.00765
|
NM_000458.4(HNF1B):c.345-19C>T
|
rs59527848
|
0.00765
|
NM_000343.4(SLC5A1):c.1130-9C>T
|
rs33914280
|
0.00761
|
NM_001352514.2(HLCS):c.494-13A>G
|
rs76785742
|
0.00759
|
NM_002300.8(LDHB):c.421+13A>G
|
rs76163762
|
0.00759
|
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)
|
rs61730035
|
0.00758
|
NM_000181.4(GUSB):c.561A>G (p.Gln187=)
|
rs74430256
|
0.00755
|
NM_175914.5(HNF4A):c.*521G>A
|
rs111466682
|
0.00755
|
NM_006516.4(SLC2A1):c.*60C>T
|
rs2229684
|
0.00754
|
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys)
|
rs35501326
|
0.00753
|
NM_017755.6(NSUN2):c.123C>T (p.Ile41=)
|
rs112327056
|
0.00752
|
NM_000162.5(GCK):c.864-105G>A
|
rs139242745
|
0.00743
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_001715.3(BLK):c.102C>T (p.Asp34=)
|
rs75383960
|
0.00743
|
NM_006488.3(KHK):c.879C>A (p.Gly293=)
|
rs116026105
|
0.00740
|
NM_002500.5(NEUROD1):c.-65C>T
|
rs8192555
|
0.00739
|
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_003619.4(PRSS12):c.*912G>A
|
rs10212745
|
0.00737
|
NM_003597.5(KLF11):c.*235T>C
|
rs150051327
|
0.00733
|
NM_000151.4(G6PC1):c.*2474C>T
|
rs143133684
|
0.00732
|
NM_002299.4(LCT):c.4777G>A (p.Val1593Met)
|
rs35891837
|
0.00726
|
NM_153281.2(HYAL1):c.-240A>G
|
rs12634784
|
0.00726
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_006488.3(KHK):c.-245G>A
|
rs192615638
|
0.00724
|
NM_001370658.1(BTD):c.142A>G (p.Ile48Val)
|
rs114092911
|
0.00722
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_002103.5(GYS1):c.1545A>G (p.Thr515=)
|
rs5448
|
0.00719
|
NM_003477.3(PDHX):c.957G>A (p.Leu319=)
|
rs36047324
|
0.00717
|
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
|
rs2229137
|
0.00715
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
NM_175914.5(HNF4A):c.*3086C>T
|
rs551080524
|
0.00706
|
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)
|
rs116125936
|
0.00703
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
NM_003041.4(SLC5A2):c.60T>C (p.Ile20=)
|
rs114050461
|
0.00699
|
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)
|
rs61757217
|
0.00689
|
NM_138413.4(HOGA1):c.*94C>T
|
rs116711005
|
0.00688
|
NM_000525.4(KCNJ11):c.*766G>A
|
rs193101892
|
0.00683
|
NM_000162.5(GCK):c.645C>T (p.Tyr215=)
|
rs144723656
|
0.00682
|
NM_003041.4(SLC5A2):c.1626C>G (p.Leu542=)
|
rs75646778
|
0.00682
|
NM_002591.4(PCK1):c.12G>A (p.Gln4=)
|
rs28383584
|
0.00679
|
NM_003597.5(KLF11):c.429C>T (p.Ala143=)
|
rs113903638
|
0.00679
|
NM_000035.4(ALDOB):c.-214G>A
|
rs185972191
|
0.00678
|
NM_033159.4(HYAL1):c.*221T>C
|
rs192692460
|
0.00675
|
NM_000512.5(GALNS):c.1003-42C>T
|
rs139088253
|
0.00674
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)
|
rs75077312
|
0.00666
|
NM_003041.4(SLC5A2):c.*63G>A
|
rs114517938
|
0.00666
|
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)
|
rs200121704
|
0.00665
|
NM_000162.5(GCK):c.31G>A (p.Ala11Thr)
|
rs116093166
|
0.00663
|
NM_000343.4(SLC5A1):c.*1432G>T
|
rs28540121
|
0.00663
|
NM_198586.3(NHLRC1):c.*344A>T
|
rs147528518
|
0.00663
|
NM_001040716.2(PC):c.2249C>T (p.Thr750Met)
|
rs145400751
|
0.00662
|
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)
|
rs143732206
|
0.00657
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_000293.3(PHKB):c.*740C>T
|
rs184521822
|
0.00652
|
NM_001715.3(BLK):c.472+12G>A
|
rs145058498
|
0.00652
|
NM_024989.4(PGAP1):c.1952+10A>C
|
rs7609297
|
0.00652
|
NM_002294.3(LAMP2):c.*3459G>T
|
rs185990694
|
0.00648
|
NM_000199.5(SGSH):c.522C>T (p.Tyr174=)
|
rs147064455
|
0.00647
|
NM_153281.2(HYAL1):c.-272C>T
|
rs139571382
|
0.00643
|
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)
|
rs75867009
|
0.00642
|
NM_000925.3(PDHB):c.-26G>A
|
rs201243189
|
0.00640
|
NM_000162.5(GCK):c.46-4952G>A
|
rs76178320
|
0.00639
|
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=)
|
rs113472164
|
0.00639
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
NM_000151.4(G6PC1):c.*2532G>A
|
rs76156285
|
0.00628
|
NM_000262.3(NAGA):c.*170G>A
|
rs142863061
|
0.00626
|
NM_000525.4(KCNJ11):c.*92C>T
|
rs5212
|
0.00626
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
NM_000404.4(GLB1):c.793-19C>T
|
rs114082733
|
0.00619
|
NM_017755.6(NSUN2):c.-27C>A
|
rs190264173
|
0.00619
|
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly)
|
rs142342237
|
0.00617
|
NM_003597.5(KLF11):c.*107G>A
|
rs140559044
|
0.00616
|
NM_002863.5(PYGL):c.1093-6C>A
|
rs147211684
|
0.00613
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)
|
rs28763904
|
0.00604
|
NM_001040716.2(PC):c.2682T>C (p.Tyr894=)
|
rs56705397
|
0.00598
|
NM_175914.5(HNF4A):c.393T>C (p.Asn131=)
|
rs113308087
|
0.00598
|
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile)
|
rs147490060
|
0.00596
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_000525.4(KCNJ11):c.*288G>A
|
rs5209
|
0.00590
|
NM_000525.4(KCNJ11):c.*487A>G
|
rs79457490
|
0.00588
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
NM_003597.5(KLF11):c.*981G>A
|
rs148235172
|
0.00584
|
NM_000545.8(HNF1A):c.1309+52C>T
|
rs56031130
|
0.00583
|
NM_000199.5(SGSH):c.675C>T (p.Phe225=)
|
rs34520362
|
0.00580
|
NM_000262.3(NAGA):c.*161T>C
|
rs150991002
|
0.00574
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_000108.5(DLD):c.*887T>C
|
rs16872396
|
0.00569
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_152419.3(HGSNAT):c.*477G>A
|
rs76878005
|
0.00567
|
NM_003597.5(KLF11):c.*882G>A
|
rs183240123
|
0.00564
|
NM_021957.4(GYS2):c.1872A>G (p.Glu624=)
|
rs142883971
|
0.00562
|
NM_000202.8(IDS):c.1269C>T (p.Pro423=)
|
rs61736890
|
0.00558
|
NM_000151.4(G6PC1):c.340+42C>T
|
rs116797100
|
0.00549
|
NM_000404.4(GLB1):c.756C>T (p.Phe252=)
|
rs142326197
|
0.00547
|
NM_000158.4(GBE1):c.143+11A>C
|
rs145918282
|
0.00545
|
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=)
|
rs144384573
|
0.00538
|
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys)
|
rs34398018
|
0.00536
|
NM_000108.5(DLD):c.*1074C>G
|
rs149275540
|
0.00531
|
NM_002863.5(PYGL):c.2112T>C (p.Ala704=)
|
rs35110875
|
0.00531
|
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser)
|
rs78348923
|
0.00530
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
NM_000290.4(PGAM2):c.366G>A (p.Pro122=)
|
rs143830182
|
0.00529
|
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)
|
rs16980929
|
0.00520
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
NM_000642.3(AGL):c.3758G>A (p.Arg1253His)
|
rs12043139
|
0.00515
|
NM_000891.3(KCNJ2):c.*211T>C
|
rs56194813
|
0.00513
|
NM_000525.4(KCNJ11):c.*529G>A
|
rs115826080
|
0.00510
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
NM_000030.3(AGXT):c.680+130C>T
|
rs78178548
|
0.00508
|
NM_002863.5(PYGL):c.176C>T (p.Thr59Met)
|
rs150483902
|
0.00507
|
NM_152419.3(HGSNAT):c.*1212C>T
|
rs186132187
|
0.00506
|
NM_001715.3(BLK):c.-165G>T
|
rs139110057
|
0.00505
|
NM_000365.6(TPI1):c.*39G>A
|
rs12692
|
0.00504
|
NM_012096.3(APPL1):c.256T>C (p.Leu86=)
|
rs147166062
|
0.00501
|
NM_000292.3(PHKA2):c.963C>T (p.Phe321=)
|
rs35010660
|
0.00498
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
NM_000181.4(GUSB):c.725-16C>T
|
rs62470936
|
0.00494
|
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=)
|
rs140001300
|
0.00493
|
NM_000458.4(HNF1B):c.-67C>T
|
rs140699244
|
0.00491
|
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile)
|
rs76033442
|
0.00489
|
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)
|
rs145807417
|
0.00488
|
NM_006755.2(TALDO1):c.801C>T (p.Asn267=)
|
rs142263629
|
0.00483
|
NM_000108.5(DLD):c.*474T>C
|
rs16872391
|
0.00479
|
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe)
|
rs74385837
|
0.00475
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)
|
rs142356700
|
0.00474
|
NM_016203.4(PRKAG2):c.1234-317T>G
|
rs141541040
|
0.00473
|
NM_000263.4(NAGLU):c.675G>T (p.Leu225=)
|
rs115680529
|
0.00469
|
NM_006721.4(ADK):c.987T>C (p.Ser329=)
|
rs116653664
|
0.00468
|
NM_000181.4(GUSB):c.1245-15C>T
|
rs62470935
|
0.00464
|
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp)
|
rs147332381
|
0.00464
|
NM_006488.3(KHK):c.159C>T (p.Leu53=)
|
rs112920456
|
0.00463
|
NM_021957.4(GYS2):c.577G>A (p.Ala193Thr)
|
rs16924038
|
0.00462
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=)
|
rs140105878
|
0.00457
|
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)
|
rs115166595
|
0.00455
|
NM_000027.4(AGA):c.60A>G (p.Leu20=)
|
rs114918706
|
0.00453
|
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val)
|
rs9934849
|
0.00453
|
NM_000365.6(TPI1):c.600G>A (p.Ala200=)
|
rs61747602
|
0.00452
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
NM_000293.3(PHKB):c.*226A>G
|
rs9935072
|
0.00451
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
NM_000293.3(PHKB):c.1126+14T>G
|
rs28691569
|
0.00450
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg)
|
rs75639549
|
0.00445
|
NM_017755.6(NSUN2):c.510G>A (p.Leu170=)
|
rs144888290
|
0.00445
|
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)
|
rs187783545
|
0.00443
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_016219.5(MAN1B1):c.1566+14C>T
|
rs201606936
|
0.00440
|
NM_000343.4(SLC5A1):c.*2275C>T
|
rs144145176
|
0.00438
|
NM_012434.5(SLC17A5):c.820-3C>T
|
rs12201641
|
0.00436
|
NM_006765.4(TUSC3):c.862+19G>A
|
rs144272482
|
0.00435
|
NM_175914.5(HNF4A):c.*2786C>T
|
rs113417800
|
0.00435
|
NM_000284.4(PDHA1):c.*1869G>C
|
rs15943
|
0.00434
|
NM_012434.5(SLC17A5):c.33C>T (p.Asn11=)
|
rs139255194
|
0.00433
|
NM_000352.4(ABCC8):c.-72G>A
|
rs541244107
|
0.00426
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00425
|
NM_000925.4(PDHB):c.303+16T>C
|
rs75014325
|
0.00417
|
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)
|
rs62640003
|
0.00417
|
NM_001715.3(BLK):c.753A>G (p.Gln251=)
|
rs76563369
|
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_000027.4(AGA):c.965C>T (p.Thr322Ile)
|
rs56849061
|
0.00414
|
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=)
|
rs12000048
|
0.00411
|
NM_000154.2(GALK1):c.957G>A (p.Glu319=)
|
rs76160162
|
0.00410
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=)
|
rs112249974
|
0.00409
|
NM_175914.5(HNF4A):c.583-27G>A
|
rs113495257
|
0.00408
|
NM_000155.4(GALT):c.879C>T (p.Ser293=)
|
rs115527942
|
0.00407
|
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys)
|
rs151155518
|
0.00406
|
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)
|
rs112454391
|
0.00404
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)
|
rs117474773
|
0.00404
|
NM_000203.5(IDUA):c.1190-17_1190-16insA
|
rs201559436
|
0.00401
|
NM_000162.5(GCK):c.618G>A (p.Thr206=)
|
rs142817246
|
0.00400
|
NM_001715.3(BLK):c.*338T>G
|
rs1042695
|
0.00399
|
NM_000507.4(FBP1):c.237C>T (p.Asn79=)
|
rs201591116
|
0.00398
|
NM_000030.3(AGXT):c.976G>A (p.Val326Ile)
|
rs115057148
|
0.00394
|
NM_001040716.2(PC):c.85G>A (p.Val29Ile)
|
rs45471099
|
0.00394
|
NM_000404.4(GLB1):c.*182A>G
|
rs76762176
|
0.00393
|
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met)
|
rs150665851
|
0.00392
|
NM_001807.6(CEL):c.402C>G (p.Gly134=)
|
rs150358550
|
0.00392
|
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val)
|
rs143520192
|
0.00392
|
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)
|
rs114057640
|
0.00392
|
NM_000525.4(KCNJ11):c.*1168G>A
|
rs182349583
|
0.00391
|
NM_000162.5(GCK):c.*92C>A
|
rs557990162
|
0.00389
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_000642.3(AGL):c.3384G>A (p.Ala1128=)
|
rs149393587
|
0.00383
|
NM_002637.4(PHKA1):c.492C>T (p.Phe164=)
|
rs149354112
|
0.00383
|
NM_000290.4(PGAM2):c.375G>A (p.Pro125=)
|
rs145985559
|
0.00382
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
NM_000284.4(PDHA1):c.831+15C>T
|
rs190157093
|
0.00379
|
NM_000642.3(AGL):c.2883A>G (p.Arg961=)
|
rs113625417
|
0.00375
|
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
|
rs148197254
|
0.00374
|
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=)
|
rs5405
|
0.00373
|
NM_003597.5(KLF11):c.*262C>T
|
rs147746428
|
0.00373
|
NM_000199.5(SGSH):c.249+25G>T
|
rs200104349
|
0.00372
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=)
|
rs142928152
|
0.00371
|
NM_000507.4(FBP1):c.865A>T (p.Met289Leu)
|
rs145771944
|
0.00369
|
NM_138413.4(HOGA1):c.700+7C>T
|
rs57616820
|
0.00367
|
NM_004130.4(GYG1):c.608+14G>C
|
rs200902926
|
0.00366
|
NM_006516.4(SLC2A1):c.*1587A>G
|
rs140560514
|
0.00366
|
NM_175914.5(HNF4A):c.696C>T (p.His232=)
|
rs150078978
|
0.00365
|
NM_006569.6(CGREF1):c.*516C>T
|
rs114062151
|
0.00364
|
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)
|
rs140921822
|
0.00364
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)
|
rs76767223
|
0.00362
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_000027.4(AGA):c.902T>C (p.Phe301Ser)
|
rs35916166
|
0.00360
|
NM_000891.3(KCNJ2):c.*1350G>A
|
rs116077770
|
0.00360
|
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly)
|
rs113641837
|
0.00359
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_033159.4(HYAL1):c.323G>A (p.Arg108His)
|
rs56962018
|
0.00357
|
NM_005327.4(HADH):c.-102G>A
|
rs182097151
|
0.00354
|
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)
|
rs116114362
|
0.00352
|
NM_000181.4(GUSB):c.216C>T (p.Gly72=)
|
rs77774169
|
0.00351
|
NM_031229.4(RBCK1):c.756+3G>A
|
rs146804136
|
0.00350
|
NM_000027.4(AGA):c.394+19_394+20del
|
rs575232762
|
0.00349
|
NM_002076.4(GNS):c.1026G>A (p.Gln342=)
|
rs115586725
|
0.00349
|
NM_000208.4(INSR):c.2946-14T>C
|
rs138585749
|
0.00347
|
NM_002863.5(PYGL):c.424+6T>A
|
rs146741789
|
0.00346
|
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu)
|
rs7637863
|
0.00345
|
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=)
|
rs114484315
|
0.00344
|
NM_000108.5(DLD):c.1236+13A>G
|
rs2701026
|
0.00341
|
NM_000294.3(PHKG2):c.96-10G>T
|
rs74015042
|
0.00340
|
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=)
|
rs113389928
|
0.00340
|
NM_175914.5(HNF4A):c.*1127T>C
|
rs757386171
|
0.00337
|
NM_175914.5(HNF4A):c.*2656G>A
|
rs146992858
|
0.00337
|
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)
|
rs147536058
|
0.00336
|
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn)
|
rs149991825
|
0.00332
|
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser)
|
rs143983247
|
0.00332
|
NM_000642.3(AGL):c.3260-20T>C
|
rs17121560
|
0.00332
|
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=)
|
rs75234317
|
0.00330
|
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=)
|
rs115889896
|
0.00329
|
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=)
|
rs202182837
|
0.00329
|
NM_016219.5(MAN1B1):c.1896+7A>G
|
rs143544706
|
0.00329
|
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)
|
rs149613968
|
0.00328
|
NM_000891.3(KCNJ2):c.*79C>T
|
rs55970278
|
0.00327
|
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=)
|
rs77684216
|
0.00327
|
NM_022895.3(C12orf43):c.*2747C>T
|
rs191295371
|
0.00327
|
NM_016219.5(MAN1B1):c.220-20A>C
|
rs116149955
|
0.00326
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
NM_000525.4(KCNJ11):c.*686A>G
|
rs147282653
|
0.00324
|
NM_002637.4(PHKA1):c.-261C>A
|
rs782574152
|
0.00324
|
NM_016219.5(MAN1B1):c.1897-12G>A
|
rs76740252
|
0.00322
|
NM_000308.4(CTSA):c.1287G>A (p.Lys429=)
|
rs41282776
|
0.00321
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996
|
0.00319
|
NM_001739.2(CA5A):c.340+20C>G
|
rs141166711
|
0.00319
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_002103.5(GYS1):c.555C>T (p.Gly185=)
|
rs2229612
|
0.00314
|
NM_001352514.2(HLCS):c.1893-6C>T
|
rs139904712
|
0.00313
|
NM_002299.4(LCT):c.2763G>A (p.Ala921=)
|
rs116951780
|
0.00313
|
NM_000284.4(PDHA1):c.510+12C>T
|
rs201869402
|
0.00312
|
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn)
|
rs142892564
|
0.00309
|
NM_003597.5(KLF11):c.*241A>G
|
rs191010106
|
0.00309
|
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln)
|
rs149339002
|
0.00309
|
NM_002637.4(PHKA1):c.*231A>T
|
rs374264624
|
0.00308
|
NM_000512.5(GALNS):c.759-67G>A
|
rs565875595
|
0.00305
|
NM_003597.5(KLF11):c.*980T>C
|
rs113527829
|
0.00303
|
NM_016219.5(MAN1B1):c.1065+16T>A
|
rs200957986
|
0.00303
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
NM_001715.3(BLK):c.187G>A (p.Val63Met)
|
rs138972988
|
0.00302
|
NM_001715.3(BLK):c.713G>A (p.Arg238Gln)
|
rs141865425
|
0.00300
|
NM_003477.3(PDHX):c.*27A>C
|
rs74524673
|
0.00299
|
NM_000154.2(GALK1):c.1107+5G>A
|
rs201663491
|
0.00297
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
NM_000292.3(PHKA2):c.2806+13C>A
|
rs186550641
|
0.00296
|
NM_000262.3(NAGA):c.25C>T (p.Leu9=)
|
rs147528904
|
0.00293
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000525.4(KCNJ11):c.*848A>G
|
rs5206
|
0.00291
|
NM_000155.4(GALT):c.510C>A (p.Ile170=)
|
rs61735984
|
0.00290
|
NM_001352514.2(HLCS):c.2451-19C>T
|
rs78671947
|
0.00290
|
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)
|
rs148946496
|
0.00289
|
NM_006488.3(KHK):c.811+5G>C
|
rs7578864
|
0.00289
|
NM_000294.3(PHKG2):c.927+17C>G
|
rs143558058
|
0.00288
|
NM_000035.4(ALDOB):c.*189C>T
|
rs185986022
|
0.00287
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
NM_001008216.2(GALE):c.772C>T (p.Leu258=)
|
rs147618796
|
0.00283
|
NM_001008216.2(GALE):c.873+20C>T
|
rs141022680
|
0.00283
|
NM_024989.4(PGAP1):c.906T>C (p.Leu302=)
|
rs138525017
|
0.00283
|
NM_003041.4(SLC5A2):c.1665+13G>A
|
rs185753774
|
0.00282
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His)
|
rs139803629
|
0.00280
|
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)
|
rs114079815
|
0.00280
|
NM_000891.3(KCNJ2):c.*2262C>T
|
rs575383136
|
0.00279
|
NM_002076.4(GNS):c.1113C>T (p.Asn371=)
|
rs116798538
|
0.00279
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)
|
rs202209699
|
0.00273
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_000203.5(IDUA):c.965T>A (p.Val322Glu)
|
rs76722191
|
0.00271
|
NM_000545.8(HNF1A):c.276C>T (p.Leu92=)
|
rs34056805
|
0.00269
|
NM_053013.4(ENO3):c.1067+18C>T
|
rs191862496
|
0.00268
|
NM_000292.3(PHKA2):c.3282+13G>A
|
rs200925279
|
0.00267
|
NM_175914.5(HNF4A):c.*393G>A
|
rs190373692
|
0.00267
|
NM_001040716.2(PC):c.321+5G>A
|
rs200766019
|
0.00264
|
NM_002637.4(PHKA1):c.*804C>T
|
rs144538626
|
0.00263
|
NM_000207.3(INS):c.188-10G>A
|
rs41275198
|
0.00262
|
NM_002863.5(PYGL):c.1683C>T (p.Ser561=)
|
rs145471351
|
0.00262
|
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile)
|
rs2303708
|
0.00262
|
NM_000158.4(GBE1):c.405C>T (p.Leu135=)
|
rs139882066
|
0.00259
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)
|
rs138658585
|
0.00259
|
NM_000293.3(PHKB):c.1127-14A>G
|
rs185628131
|
0.00258
|
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)
|
rs34348416
|
0.00257
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=)
|
rs61737297
|
0.00252
|
NM_000284.4(PDHA1):c.*1208A>C
|
rs369499936
|
0.00252
|
NM_000294.3(PHKG2):c.324C>T (p.Asp108=)
|
rs138416154
|
0.00252
|
NM_002500.4(NEUROD1):c.*1595G>A
|
rs187310461
|
0.00252
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_000181.4(GUSB):c.1752G>A (p.Glu584=)
|
rs141430018
|
0.00250
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
NM_002294.3(LAMP2):c.*1356C>G
|
rs188897063
|
0.00249
|
NM_000891.3(KCNJ2):c.*3163T>A
|
rs149224363
|
0.00248
|
NM_000162.5(GCK):c.*356G>A
|
rs146107173
|
0.00247
|
NM_005908.4(MANBA):c.2136G>A (p.Ser712=)
|
rs149687835
|
0.00245
|
NM_152419.3(HGSNAT):c.234+14C>G
|
rs146429523
|
0.00245
|
NM_001008216.2(GALE):c.912G>A (p.Val304=)
|
rs143694860
|
0.00244
|
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)
|
rs150378513
|
0.00243
|
NM_000108.5(DLD):c.507C>T (p.Gly169=)
|
rs144351432
|
0.00241
|
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)
|
rs61731628
|
0.00240
|
NM_000308.4(CTSA):c.105C>T (p.Ile35=)
|
rs150140984
|
0.00238
|
NM_000154.2(GALK1):c.1119C>T (p.Gly373=)
|
rs73997615
|
0.00237
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala)
|
rs142034171
|
0.00237
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_022895.3(C12orf43):c.*2053C>T
|
rs140584786
|
0.00236
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)
|
rs34664134
|
0.00233
|
NM_000891.3(KCNJ2):c.*3208A>G
|
rs188533495
|
0.00233
|
NM_175914.5(HNF4A):c.*1078G>A
|
rs573432571
|
0.00233
|
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=)
|
rs145589373
|
0.00232
|
NM_001352514.2(HLCS):c.900G>A (p.Arg300=)
|
rs146019354
|
0.00232
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
|
rs117195882
|
0.00231
|
NM_000891.3(KCNJ2):c.*2893C>T
|
rs137870461
|
0.00231
|
NM_000199.5(SGSH):c.411G>A (p.Ala137=)
|
rs142557761
|
0.00230
|
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=)
|
rs138435910
|
0.00230
|
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)
|
rs549139396
|
0.00230
|
NM_000162.5(GCK):c.483+14A>G
|
rs74852379
|
0.00229
|
NM_000458.4(HNF1B):c.444G>A (p.Ser148=)
|
rs147218489
|
0.00228
|
NM_001370658.1(BTD):c.1002G>A (p.Thr334=)
|
rs148764524
|
0.00228
|
NM_001715.3(BLK):c.116C>T (p.Pro39Leu)
|
rs142352008
|
0.00222
|
NM_005271.5(GLUD1):c.909A>C (p.Thr303=)
|
rs113997422
|
0.00222
|
NM_175914.5(HNF4A):c.*568G>A
|
rs142417840
|
0.00220
|
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter)
|
rs141733590
|
0.00217
|
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)
|
rs117880912
|
0.00217
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_000925.4(PDHB):c.132T>C (p.Asp44=)
|
rs11542399
|
0.00216
|
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=)
|
rs61732499
|
0.00216
|
NM_000458.4(HNF1B):c.*659G>A
|
rs182736930
|
0.00215
|
NM_000545.8(HNF1A):c.252C>T (p.Pro84=)
|
rs78772552
|
0.00215
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=)
|
rs141112920
|
0.00215
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
NM_175914.5(HNF4A):c.*785G>A
|
rs557646293
|
0.00213
|
NM_000642.3(AGL):c.2546+10T>C
|
rs74551473
|
0.00212
|
NM_001040716.2(PC):c.1608G>A (p.Pro536=)
|
rs139074169
|
0.00210
|
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=)
|
rs144271949
|
0.00210
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)
|
rs77656150
|
0.00209
|
NM_000181.4(GUSB):c.1359G>A (p.Ala453=)
|
rs118066970
|
0.00208
|
NM_000284.4(PDHA1):c.*857A>G
|
rs182836908
|
0.00208
|
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met)
|
rs117179004
|
0.00208
|
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)
|
rs146631734
|
0.00207
|
NM_000293.3(PHKB):c.1446G>A (p.Arg482=)
|
rs149812232
|
0.00206
|
NM_000352.6(ABCC8):c.2391-17G>T
|
rs201484528
|
0.00206
|
NM_006516.4(SLC2A1):c.*1588G>A
|
rs189700252
|
0.00206
|
NM_005908.4(MANBA):c.2191G>A (p.Val731Met)
|
rs150554352
|
0.00205
|
NM_000289.6(PFKM):c.2199-12A>G
|
rs202008060
|
0.00204
|
NM_000284.4(PDHA1):c.*864G>A
|
rs192450087
|
0.00203
|
NM_001008216.2(GALE):c.879G>A (p.Pro293=)
|
rs142332521
|
0.00203
|
NM_175914.5(HNF4A):c.*1293C>T
|
rs182919150
|
0.00201
|
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln)
|
rs145641205
|
0.00200
|
NM_001739.2(CA5A):c.882G>A (p.Ala294=)
|
rs150891997
|
0.00200
|
NM_000181.4(GUSB):c.1041T>C (p.Gly347=)
|
rs141303888
|
0.00197
|
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)
|
rs147437033
|
0.00195
|
NM_175914.5(HNF4A):c.*1095G>A
|
rs192208246
|
0.00195
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys)
|
rs147165298
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser)
|
rs149533049
|
0.00192
|
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)
|
rs112176097
|
0.00191
|
NM_175914.5(HNF4A):c.*76G>A
|
rs11574743
|
0.00191
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
NM_053013.4(ENO3):c.828C>T (p.Leu276=)
|
rs35119507
|
0.00190
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
NM_004130.4(GYG1):c.609G>A (p.Val203=)
|
rs75445811
|
0.00188
|
NM_000284.4(PDHA1):c.-98C>T
|
rs192773464
|
0.00187
|
NM_000525.4(KCNJ11):c.*1197G>A
|
rs191682072
|
0.00187
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
NM_002103.5(GYS1):c.300+8G>A
|
rs5454
|
0.00187
|
NM_002294.3(LAMP2):c.*3494A>G
|
rs180681121
|
0.00187
|
NM_006859.4(LIAS):c.849C>T (p.Gly283=)
|
rs146030265
|
0.00187
|
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)
|
rs144862290
|
0.00186
|
NM_000181.4(GUSB):c.222C>T (p.Thr74=)
|
rs140016611
|
0.00185
|
NM_000289.6(PFKM):c.702A>T (p.Pro234=)
|
rs138022863
|
0.00185
|
NM_001008216.2(GALE):c.237+11G>A
|
rs201276934
|
0.00183
|
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala)
|
rs34305721
|
0.00181
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_002637.4(PHKA1):c.*500C>A
|
rs148465718
|
0.00179
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000202.8(IDS):c.418+12T>C
|
rs470986
|
0.00178
|
NM_002294.3(LAMP2):c.*3583A>G
|
rs144504054
|
0.00178
|
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)
|
rs182393180
|
0.00177
|
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)
|
rs201961848
|
0.00176
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp)
|
rs139290127
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_000035.4(ALDOB):c.*1003A>G
|
rs80292759
|
0.00174
|
NM_053013.4(ENO3):c.86-10C>T
|
rs201571802
|
0.00174
|
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys)
|
rs201972845
|
0.00173
|
NM_005908.4(MANBA):c.1254C>G (p.Ala418=)
|
rs139157403
|
0.00173
|
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)
|
rs150433001
|
0.00173
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
NM_000284.4(PDHA1):c.798A>G (p.Thr266=)
|
rs35752213
|
0.00170
|
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu)
|
rs148123124
|
0.00170
|
NM_001008216.2(GALE):c.529-12C>T
|
rs369293480
|
0.00169
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
0.00169
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)
|
rs183347428
|
0.00166
|
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=)
|
rs111603166
|
0.00164
|
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)
|
rs145789213
|
0.00163
|
NM_006516.4(SLC2A1):c.*626G>A
|
rs6413525
|
0.00163
|
NM_021957.4(GYS2):c.1389T>C (p.Ile463=)
|
rs146434233
|
0.00162
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_175914.5(HNF4A):c.*1783G>T
|
rs564110189
|
0.00161
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=)
|
rs138358081
|
0.00160
|
NM_001931.5(DLAT):c.570A>G (p.Gln190=)
|
rs143107853
|
0.00160
|
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)
|
rs56029513
|
0.00158
|
NM_001008216.2(GALE):c.709+18G>A
|
rs200584878
|
0.00158
|
NM_001040716.2(PC):c.1344G>A (p.Ala448=)
|
rs148281644
|
0.00158
|
NM_003597.5(KLF11):c.*2144C>T
|
rs139703378
|
0.00157
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
NM_000203.5(IDUA):c.493+10C>T
|
rs200000194
|
0.00156
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
NM_001040716.2(PC):c.2223+19C>T
|
rs45457699
|
0.00153
|
NM_031229.4(RBCK1):c.168-20G>T
|
rs149174797
|
0.00153
|
NM_003597.5(KLF11):c.*2026G>C
|
rs146068438
|
0.00152
|
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=)
|
rs138866018
|
0.00151
|
NM_000642.3(AGL):c.3792A>T (p.Gly1264=)
|
rs148606237
|
0.00151
|
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)
|
rs138167675
|
0.00150
|
NM_006859.4(LIAS):c.393+8C>A
|
rs201574806
|
0.00149
|
NM_000147.5(FUCA1):c.389+14C>T
|
rs553138426
|
0.00148
|
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)
|
rs144461610
|
0.00148
|
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=)
|
rs140496149
|
0.00148
|
NM_024989.4(PGAP1):c.1351-16A>G
|
rs377329019
|
0.00148
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_001040716.2(PC):c.951C>T (p.His317=)
|
rs142309583
|
0.00147
|
NM_175914.5(HNF4A):c.*446G>A
|
rs548013860
|
0.00147
|
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn)
|
rs142656537
|
0.00146
|
NM_000291.4(PGK1):c.171G>A (p.Ser57=)
|
rs78165041
|
0.00145
|
NM_000404.4(GLB1):c.1032T>C (p.Thr344=)
|
rs199927127
|
0.00145
|
NM_000891.3(KCNJ2):c.*732T>G
|
rs150985434
|
0.00145
|
NM_005609.4(PYGM):c.424+17G>A
|
rs202244109
|
0.00145
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_012203.2(GRHPR):c.512G>A (p.Arg171His)
|
rs200106110
|
0.00143
|
NM_000154.2(GALK1):c.611+18C>T
|
rs188851202
|
0.00140
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
NM_000891.3(KCNJ2):c.*210A>T
|
rs146282466
|
0.00140
|
NM_000891.3(KCNJ2):c.-314T>C
|
rs566186294
|
0.00140
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)
|
rs200750044
|
0.00138
|
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=)
|
rs80358198
|
0.00136
|
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=)
|
rs139852230
|
0.00136
|
NM_000292.3(PHKA2):c.742A>C (p.Arg248=)
|
rs149219369
|
0.00135
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
NM_053013.4(ENO3):c.417G>A (p.Gly139=)
|
rs142390642
|
0.00133
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_000027.4(AGA):c.10A>C (p.Lys4Gln)
|
rs149092606
|
0.00131
|
NM_001739.2(CA5A):c.788G>A (p.Arg263His)
|
rs201195769
|
0.00131
|
NM_024989.4(PGAP1):c.649+11T>A
|
rs181229301
|
0.00131
|
NM_000891.3(KCNJ2):c.*766C>T
|
rs186842823
|
0.00130
|
NM_000925.4(PDHB):c.198A>G (p.Ala66=)
|
rs138621975
|
0.00130
|
NM_053013.4(ENO3):c.1176+8T>C
|
rs111926990
|
0.00128
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_000262.3(NAGA):c.1209C>T (p.Ile403=)
|
rs201582948
|
0.00126
|
NM_000292.3(PHKA2):c.1964-7A>G
|
rs376658808
|
0.00126
|
NM_000458.4(HNF1B):c.*683G>A
|
rs144234352
|
0.00126
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
NM_000027.4(AGA):c.*882A>C
|
rs3749479
|
0.00124
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)
|
rs2228067
|
0.00124
|
NM_001008216.2(GALE):c.873+13G>C
|
rs760941
|
0.00124
|
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=)
|
rs112110009
|
0.00124
|
NM_000027.4(AGA):c.675T>C (p.Asn225=)
|
rs138699617
|
0.00121
|
NM_005566.4(LDHA):c.*243C>G
|
rs76818137
|
0.00121
|
NM_000202.8(IDS):c.825C>T (p.Asp275=)
|
rs148038243
|
0.00120
|
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)
|
rs5214
|
0.00120
|
NM_005609.4(PYGM):c.2109G>A (p.Glu703=)
|
rs200537357
|
0.00120
|
NM_000292.3(PHKA2):c.2956G>A (p.Glu986Lys)
|
rs144570979
|
0.00119
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000162.5(GCK):c.364-18A>G
|
rs191255582
|
0.00118
|
NM_000290.4(PGAM2):c.726C>T (p.Ala242=)
|
rs142209394
|
0.00118
|
NM_000512.5(GALNS):c.566+5T>C
|
rs3743545
|
0.00118
|
NM_000202.8(IDS):c.126C>T (p.Ile42=)
|
rs146963087
|
0.00117
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_001715.3(BLK):c.974A>C (p.Lys325Thr)
|
rs77401687
|
0.00117
|
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)
|
rs145603001
|
0.00116
|
NM_002637.4(PHKA1):c.864+11A>G
|
rs181490917
|
0.00116
|
NM_003619.4(PRSS12):c.645A>G (p.Gly215=)
|
rs140470579
|
0.00116
|
NM_024989.4(PGAP1):c.1729-12G>A
|
rs75342998
|
0.00116
|
NM_000202.8(IDS):c.123C>G (p.Leu41=)
|
rs146904022
|
0.00115
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
NM_000292.3(PHKA2):c.2568G>T (p.Pro856=)
|
rs141034910
|
0.00115
|
NM_000545.6(HNF1A):c.-527C>T
|
rs3809315
|
0.00115
|
NM_000642.3(AGL):c.2949+20C>T
|
rs201729914
|
0.00114
|
NM_000154.2(GALK1):c.1167G>A (p.Val389=)
|
rs150586960
|
0.00113
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_005566.4(LDHA):c.183G>A (p.Glu61=)
|
rs149588992
|
0.00113
|
NM_000284.4(PDHA1):c.*1345A>G
|
rs193253848
|
0.00110
|
NM_000162.5(GCK):c.660C>T (p.Cys220=)
|
rs142952813
|
0.00109
|
NM_000293.3(PHKB):c.270C>T (p.Cys90=)
|
rs139431568
|
0.00109
|
NM_006721.4(ADK):c.1088G>A (p.Ter363=)
|
rs148819558
|
0.00108
|
NM_012096.3(APPL1):c.219T>C (p.Phe73=)
|
rs150282222
|
0.00108
|
NM_002103.5(GYS1):c.234A>G (p.Glu78=)
|
rs146683677
|
0.00107
|
NM_000046.5(ARSB):c.456G>T (p.Arg152=)
|
rs140747158
|
0.00106
|
NM_000046.5(ARSB):c.903C>T (p.Asn301=)
|
rs147495977
|
0.00106
|
NM_000292.3(PHKA2):c.3336+17G>A
|
rs199840021
|
0.00106
|
NM_005609.4(PYGM):c.999+20C>T
|
rs201711087
|
0.00106
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
NM_001352514.2(HLCS):c.2121+11T>A
|
rs371974889
|
0.00105
|
NM_000365.6(TPI1):c.321T>C (p.Asp107=)
|
rs141972556
|
0.00104
|
NM_006516.4(SLC2A1):c.*346G>A
|
rs190760291
|
0.00104
|
NM_000035.4(ALDOB):c.324+8C>G
|
rs118168553
|
0.00103
|
NM_001040716.2(PC):c.1604-17G>A
|
rs79317761
|
0.00103
|
NM_175914.5(HNF4A):c.*1013G>A
|
rs767537996
|
0.00103
|
NM_000292.3(PHKA2):c.1767A>G (p.Leu589=)
|
rs148153758
|
0.00102
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000162.5(GCK):c.-455A>G
|
rs140894490
|
0.00101
|
NM_175914.5(HNF4A):c.*3143G>T
|
rs535731605
|
0.00101
|
NM_001040716.2(PC):c.1513+13del
|
rs755170894
|
0.00099
|
NM_175914.5(HNF4A):c.*277T>C
|
rs149998598
|
0.00099
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
NM_000162.5(GCK):c.*847G>A
|
rs76374134
|
0.00096
|
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu)
|
rs144007007
|
0.00095
|
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=)
|
rs148981522
|
0.00094
|
NM_006488.3(KHK):c.*505G>A
|
rs78939351
|
0.00094
|
NM_000292.3(PHKA2):c.1042-17A>G
|
rs368817576
|
0.00093
|
NM_001360016.2(G6PD):c.1458-13C>G
|
rs371772243
|
0.00093
|
NM_198586.3(NHLRC1):c.*886G>A
|
rs146342540
|
0.00093
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
NM_004130.4(GYG1):c.439A>G (p.Asn147Asp)
|
rs140175164
|
0.00092
|
NM_021957.4(GYS2):c.1701G>A (p.Leu567=)
|
rs78337075
|
0.00092
|
NM_031229.4(RBCK1):c.1030-18G>A
|
rs369024234
|
0.00092
|
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)
|
rs150145390
|
0.00091
|
NM_002637.4(PHKA1):c.238-4G>A
|
rs782186877
|
0.00089
|
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)
|
rs140923667
|
0.00088
|
NM_000108.5(DLD):c.1464+11A>G
|
rs184949878
|
0.00088
|
NM_000151.4(G6PC1):c.*3G>A
|
rs191399793
|
0.00088
|
NM_000199.5(SGSH):c.303C>T (p.Phe101=)
|
rs150482611
|
0.00088
|
NM_000293.3(PHKB):c.2532G>A (p.Glu844=)
|
rs140117779
|
0.00088
|
NM_005908.4(MANBA):c.479G>A (p.Arg160His)
|
rs144917953
|
0.00088
|
NM_006516.4(SLC2A1):c.680-12C>T
|
rs150960456
|
0.00088
|
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe)
|
rs147185003
|
0.00088
|
NM_000151.4(G6PC1):c.562+10G>A
|
rs199505156
|
0.00087
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_175914.5(HNF4A):c.*3153C>A
|
rs569302875
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_000545.8(HNF1A):c.156C>T (p.Gly52=)
|
rs150195625
|
0.00086
|
NM_001040716.2(PC):c.52C>A (p.Arg18=)
|
rs144583275
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_016203.4(PRKAG2):c.1584+7C>T
|
rs111627309
|
0.00086
|
NM_031229.4(RBCK1):c.1453-10C>T
|
rs112086441
|
0.00086
|
NM_000203.5(IDUA):c.1190-19G>C
|
rs1285206431
|
0.00085
|
NM_001739.2(CA5A):c.555+12C>G
|
rs183776303
|
0.00085
|
NM_003384.3(VRK1):c.286+12A>G
|
rs376603491
|
0.00085
|
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His)
|
rs145477274
|
0.00085
|
NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
|
rs41282026
|
0.00084
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
NM_000292.3(PHKA2):c.2172T>C (p.Ser724=)
|
rs144151433
|
0.00083
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_000545.8(HNF1A):c.155G>C (p.Gly52Ala)
|
rs142318174
|
0.00083
|
NM_001040716.2(PC):c.904-17C>T
|
rs199565222
|
0.00083
|
NM_002294.3(LAMP2):c.-33C>T
|
rs368403767
|
0.00083
|
NM_006516.4(SLC2A1):c.*571C>T
|
rs6413524
|
0.00083
|
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val)
|
rs79970603
|
0.00082
|
NM_000152.5(GAA):c.1755-18T>C
|
rs201399518
|
0.00082
|
NM_000925.4(PDHB):c.288T>C (p.Ala96=)
|
rs138128142
|
0.00082
|
NM_000292.3(PHKA2):c.3112-14T>C
|
rs371304628
|
0.00081
|
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=)
|
rs139136352
|
0.00081
|
NM_000545.8(HNF1A):c.1107+9C>G
|
rs17847497
|
0.00081
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
NM_001360016.2(G6PD):c.311G>A (p.Arg104His)
|
rs181277621
|
0.00081
|
NM_006516.4(SLC2A1):c.*22G>A
|
rs2229683
|
0.00081
|
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)
|
rs2236574
|
0.00081
|
NM_031229.4(RBCK1):c.150C>T (p.Ser50=)
|
rs149008463
|
0.00081
|
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)
|
rs144222167
|
0.00078
|
NM_000202.8(IDS):c.1181-13C>T
|
rs188486717
|
0.00078
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000507.4(FBP1):c.345G>A (p.Val115=)
|
rs61753273
|
0.00078
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
NM_012203.2(GRHPR):c.801A>C (p.Gly267=)
|
rs141800325
|
0.00078
|
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)
|
rs141862527
|
0.00077
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
NM_001931.5(DLAT):c.506+11C>T
|
rs77846695
|
0.00077
|
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_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
NM_005908.4(MANBA):c.2246T>A (p.Leu749His)
|
rs142248415
|
0.00076
|
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro)
|
rs143945974
|
0.00076
|
NM_000292.3(PHKA2):c.1635C>G (p.Ile545Met)
|
rs148176463
|
0.00075
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=)
|
rs139564374
|
0.00073
|
NM_000202.8(IDS):c.884A>G (p.Lys295Arg)
|
rs113993953
|
0.00072
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=)
|
rs147850230
|
0.00072
|
NM_001807.6(CEL):c.1485-8C>T
|
rs185188893
|
0.00072
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=)
|
rs150671256
|
0.00070
|
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)
|
rs13306758
|
0.00070
|
NM_031229.4(RBCK1):c.1257C>T (p.Ala419=)
|
rs151306710
|
0.00070
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
NM_003477.3(PDHX):c.-23C>A
|
rs201033364
|
0.00068
|
NM_002294.3(LAMP2):c.*3687T>C
|
rs185627568
|
0.00067
|
NM_021957.4(GYS2):c.304-17T>C
|
rs3765094
|
0.00067
|
NM_000035.4(ALDOB):c.325-19T>G
|
rs200798661
|
0.00066
|
NM_000199.5(SGSH):c.1428C>T (p.His476=)
|
rs139460639
|
0.00066
|
NM_000404.4(GLB1):c.1833G>A (p.Ser611=)
|
rs201755284
|
0.00066
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser)
|
rs138951582
|
0.00066
|
NM_000162.5(GCK):c.-215A>G
|
rs13306390
|
0.00065
|
NM_001040716.2(PC):c.2856C>T (p.Ile952=)
|
rs183661331
|
0.00065
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
NM_000154.2(GALK1):c.611+9C>T
|
rs370204015
|
0.00064
|
NM_016219.5(MAN1B1):c.1765-17C>T
|
rs569907992
|
0.00064
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
NM_000262.3(NAGA):c.760-7C>A
|
rs150693978
|
0.00063
|
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=)
|
rs181021573
|
0.00063
|
NM_000507.4(FBP1):c.334-15T>C
|
rs370920869
|
0.00063
|
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val)
|
rs201573707
|
0.00063
|
NM_003619.4(PRSS12):c.2535C>T (p.Ser845=)
|
rs145964630
|
0.00063
|
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu)
|
rs200505085
|
0.00063
|
NM_000158.4(GBE1):c.24G>A (p.Ala8=)
|
rs28763906
|
0.00062
|
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala)
|
rs201838518
|
0.00062
|
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=)
|
rs147131392
|
0.00062
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)
|
rs145880201
|
0.00062
|
NM_000046.5(ARSB):c.570A>G (p.Thr190=)
|
rs148138805
|
0.00061
|
NM_000284.4(PDHA1):c.97G>C (p.Asp33His)
|
rs150318528
|
0.00061
|
NM_000293.3(PHKB):c.3267G>A (p.Pro1089=)
|
rs146134171
|
0.00061
|
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile)
|
rs1800572
|
0.00061
|
NM_000545.8(HNF1A):c.210C>T (p.Ser70=)
|
rs146686581
|
0.00061
|
NM_006516.4(SLC2A1):c.275+17C>T
|
rs761669510
|
0.00061
|
NM_002294.3(LAMP2):c.504C>T (p.Tyr168=)
|
rs150520869
|
0.00060
|
NM_005327.7(HADH):c.710-845C>G
|
rs201019894
|
0.00060
|
NM_000294.3(PHKG2):c.174A>T (p.Thr58=)
|
rs56207641
|
0.00059
|
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn)
|
rs141251024
|
0.00059
|
NM_000284.4(PDHA1):c.604-10C>T
|
rs201754585
|
0.00058
|
NM_001040716.2(PC):c.216G>A (p.Thr72=)
|
rs117711892
|
0.00058
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
NM_000027.4(AGA):c.482G>A (p.Arg161Gln)
|
rs192195150
|
0.00056
|
NM_000642.3(AGL):c.3084-8T>C
|
rs186402161
|
0.00056
|
NM_002500.4(NEUROD1):c.*1339T>C
|
rs17847284
|
0.00056
|
NM_002637.4(PHKA1):c.2918-4A>G
|
rs184136158
|
0.00056
|
NM_005908.4(MANBA):c.2014+14C>T
|
rs192469727
|
0.00056
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
NM_000202.8(IDS):c.781C>G (p.Pro261Ala)
|
rs141720810
|
0.00055
|
NM_002637.4(PHKA1):c.2229+15G>T
|
rs552106907
|
0.00055
|
NM_002863.5(PYGL):c.1827+11T>A
|
rs189147741
|
0.00055
|
NM_016203.4(PRKAG2):c.1106+9G>C
|
rs200429988
|
0.00055
|
NM_005908.4(MANBA):c.2415+19G>A
|
rs148719555
|
0.00054
|
NM_022895.3(C12orf43):c.*2022C>T
|
rs751401246
|
0.00054
|
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=)
|
rs139774349
|
0.00053
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
|
rs200831987
|
0.00052
|
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu)
|
rs147959014
|
0.00052
|
NM_000343.4(SLC5A1):c.*400C>T
|
rs117362976
|
0.00052
|
NM_000035.4(ALDOB):c.799+11C>T
|
rs182245025
|
0.00051
|
NM_001931.5(DLAT):c.1815-15T>C
|
rs192297571
|
0.00051
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NR_184036.1(R3HDML-AS1):n.3A>G
|
rs377144780
|
0.00051
|
NM_000162.5(GCK):c.*510C>T
|
rs141645300
|
0.00050
|
NM_002103.5(GYS1):c.492+9C>T
|
rs191213443
|
0.00050
|
NM_000162.5(GCK):c.-453C>T
|
rs191795044
|
0.00049
|
NM_000199.5(SGSH):c.746-16C>T
|
rs376577518
|
0.00049
|
NM_000891.3(KCNJ2):c.1044C>T (p.Tyr348=)
|
rs146330042
|
0.00049
|
NM_012434.5(SLC17A5):c.1112-18A>G
|
rs751782561
|
0.00049
|
NM_002637.4(PHKA1):c.1740A>G (p.Ser580=)
|
rs143064948
|
0.00047
|
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)
|
rs3739721
|
0.00046
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
NM_000545.8(HNF1A):c.1502-7C>T
|
rs193922581
|
0.00046
|
NM_022895.3(C12orf43):c.*1891G>A
|
rs568653423
|
0.00046
|
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr)
|
rs144591812
|
0.00045
|
NM_000642.3(AGL):c.39C>T (p.Asn13=)
|
rs138203039
|
0.00045
|
NM_002103.5(GYS1):c.-19C>A
|
rs2287753
|
0.00045
|
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)
|
rs149276836
|
0.00045
|
NM_003597.5(KLF11):c.*612C>T
|
rs187519040
|
0.00045
|
NM_022895.3(C12orf43):c.*1649G>A
|
rs56335342
|
0.00045
|
NM_024989.4(PGAP1):c.1220+19T>C
|
rs142559942
|
0.00043
|
NM_175914.5(HNF4A):c.*7G>A
|
rs186057842
|
0.00043
|
NM_175914.5(HNF4A):c.138G>A (p.Thr46=)
|
rs145845882
|
0.00043
|
NM_000147.5(FUCA1):c.969+18T>A
|
rs140246387
|
0.00041
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=)
|
rs200413076
|
0.00041
|
NM_000528.4(MAN2B1):c.630+12G>C
|
rs368271384
|
0.00041
|
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)
|
rs140491072
|
0.00041
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser)
|
rs147312612
|
0.00041
|
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331
|
0.00040
|
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val)
|
rs140138702
|
0.00040
|
NM_000292.3(PHKA2):c.1579C>G (p.Gln527Glu)
|
rs17856445
|
0.00039
|
NM_000340.2(SLC2A2):c.963+14C>T
|
rs189551647
|
0.00039
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
|
rs199608903
|
0.00039
|
NM_175914.5(HNF4A):c.*2153T>C
|
rs760628227
|
0.00039
|
NM_000030.3(AGXT):c.165+40A>C
|
rs57017537
|
0.00038
|
NM_000162.5(GCK):c.*735C>A
|
rs556996030
|
0.00038
|
NM_000162.5(GCK):c.*764C>T
|
rs185418856
|
0.00038
|
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)
|
rs201183167
|
0.00038
|
NM_000294.3(PHKG2):c.585G>A (p.Ala195=)
|
rs187710792
|
0.00038
|
NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr)
|
rs150445034
|
0.00037
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
NM_000202.8(IDS):c.666C>T (p.Ala222=)
|
rs201588028
|
0.00036
|
NM_000284.4(PDHA1):c.899+12G>A
|
rs376730441
|
0.00036
|
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser)
|
rs3745650
|
0.00036
|
NM_000545.8(HNF1A):c.336G>A (p.Pro112=)
|
rs371365341
|
0.00036
|
NM_001739.2(CA5A):c.172G>A (p.Val58Met)
|
rs200539625
|
0.00036
|
NM_000202.8(IDS):c.1074C>G (p.Pro358=)
|
rs61736891
|
0.00035
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
NM_000891.3(KCNJ2):c.*996C>T
|
rs77958248
|
0.00035
|
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)
|
rs150098198
|
0.00035
|
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)
|
rs138555898
|
0.00034
|
NM_001715.3(BLK):c.*444C>A
|
rs376203568
|
0.00034
|
NM_001715.3(BLK):c.879C>T (p.His293=)
|
rs142623841
|
0.00034
|
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr)
|
rs144813238
|
0.00034
|
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=)
|
rs139927561
|
0.00034
|
NM_000158.4(GBE1):c.859G>C (p.Val287Leu)
|
rs116899644
|
0.00033
|
NM_000891.3(KCNJ2):c.*1125G>A
|
rs191729421
|
0.00033
|
NM_000891.3(KCNJ2):c.*35A>C
|
rs72552029
|
0.00033
|
NM_006859.4(LIAS):c.944G>A (p.Arg315His)
|
rs145535775
|
0.00033
|
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=)
|
rs141448616
|
0.00033
|
NM_000284.4(PDHA1):c.252G>A (p.Gln84=)
|
rs144828838
|
0.00032
|
NM_000294.3(PHKG2):c.21G>A (p.Pro7=)
|
rs200427925
|
0.00032
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=)
|
rs142437842
|
0.00032
|
NM_024989.4(PGAP1):c.2630+15T>C
|
rs375452864
|
0.00032
|
NM_175914.5(HNF4A):c.*2992C>T
|
rs770250175
|
0.00032
|
NM_000152.5(GAA):c.2478G>A (p.Leu826=)
|
rs201183207
|
0.00031
|
NM_000365.6(TPI1):c.*388C>T
|
rs540279409
|
0.00031
|
NM_001040716.2(PC):c.3198C>T (p.Ser1066=)
|
rs144087445
|
0.00031
|
NM_002294.3(LAMP2):c.*2148A>G
|
rs756504749
|
0.00031
|
NM_003619.4(PRSS12):c.1144C>T (p.Leu382=)
|
rs146677360
|
0.00031
|
NM_005609.4(PYGM):c.1519-12G>A
|
rs373078258
|
0.00031
|
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)
|
rs148518827
|
0.00031
|
NM_021957.4(GYS2):c.1251C>T (p.Asn417=)
|
rs139882761
|
0.00031
|
NM_000293.3(PHKB):c.2433T>G (p.Thr811=)
|
rs187940556
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_000545.5(HNF1A):c.-467C>T
|
rs1039479235
|
0.00029
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
NM_000925.4(PDHB):c.204+9A>C
|
rs202068841
|
0.00029
|
NM_001040716.2(PC):c.2577G>A (p.Ser859=)
|
rs199879375
|
0.00029
|
NM_175914.5(HNF4A):c.*764C>T
|
rs537782818
|
0.00029
|
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)
|
rs200679026
|
0.00028
|
NM_001040716.2(PC):c.1401C>T (p.Asn467=)
|
rs45623237
|
0.00028
|
NM_012203.2(GRHPR):c.387C>A (p.Ala129=)
|
rs529454212
|
0.00028
|
NM_022895.3(C12orf43):c.*1917C>T
|
rs1039799815
|
0.00028
|
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)
|
rs142046439
|
0.00027
|
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln)
|
rs11554970
|
0.00027
|
NM_000027.4(AGA):c.744C>T (p.Asp248=)
|
rs148052291
|
0.00026
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_000155.4(GALT):c.253-5G>A
|
rs762136953
|
0.00026
|
NM_000284.4(PDHA1):c.117+19T>A
|
rs373859720
|
0.00026
|
NM_000284.4(PDHA1):c.396A>C (p.Arg132=)
|
rs757654963
|
0.00026
|
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)
|
rs77938727
|
0.00026
|
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=)
|
rs185126699
|
0.00026
|
NM_000434.4(NEU1):c.486C>T (p.Ala162=)
|
rs115588976
|
0.00026
|
NM_000458.4(HNF1B):c.1207-18T>C
|
rs199849203
|
0.00026
|
NM_000507.4(FBP1):c.906C>T (p.Ala302=)
|
rs28369776
|
0.00026
|
NM_000525.4(KCNJ11):c.-154G>T
|
rs539975714
|
0.00026
|
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)
|
rs139633545
|
0.00026
|
NM_004130.4(GYG1):c.60G>A (p.Leu20=)
|
rs145419359
|
0.00026
|
NM_175914.5(HNF4A):c.*1395C>T
|
rs568456380
|
0.00026
|
NM_175914.5(HNF4A):c.*547G>A
|
rs1031904976
|
0.00026
|
NM_000340.2(SLC2A2):c.216C>T (p.Tyr72=)
|
rs139231189
|
0.00025
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_006765.4(TUSC3):c.1028+11T>C
|
rs187670751
|
0.00025
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
NM_000162.5(GCK):c.208+17G>A
|
rs199822205
|
0.00024
|
NM_000528.4(MAN2B1):c.1419+16C>A
|
rs572897959
|
0.00024
|
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=)
|
rs138877244
|
0.00024
|
NM_002294.3(LAMP2):c.741+11C>T
|
rs149155417
|
0.00024
|
NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe)
|
rs202120724
|
0.00024
|
NM_016219.5(MAN1B1):c.1445+19C>T
|
rs374413288
|
0.00024
|
NM_175914.5(HNF4A):c.582+20G>C
|
rs370794722
|
0.00024
|
NM_000162.5(GCK):c.-102G>A
|
rs781377703
|
0.00023
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000202.8(IDS):c.727C>T (p.Pro243Ser)
|
rs143474305
|
0.00023
|
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=)
|
rs369973813
|
0.00023
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_000293.3(PHKB):c.1797+8C>T
|
rs77462273
|
0.00023
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
NM_003597.5(KLF11):c.1448C>T (p.Pro483Leu)
|
rs201735305
|
0.00023
|
NM_004130.4(GYG1):c.1041T>A (p.Thr347=)
|
rs202027758
|
0.00023
|
NM_005609.4(PYGM):c.1527G>T (p.Gly509=)
|
rs114730784
|
0.00023
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
NM_000284.4(PDHA1):c.899+18G>A
|
rs370785632
|
0.00022
|
NM_000458.4(HNF1B):c.852C>T (p.His284=)
|
rs149581999
|
0.00022
|
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=)
|
rs111252736
|
0.00022
|
NM_001715.3(BLK):c.1349G>A (p.Arg450His)
|
rs202162624
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_022895.3(C12orf43):c.*2791G>A
|
rs547080919
|
0.00022
|
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)
|
rs142941035
|
0.00022
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000202.8(IDS):c.849G>C (p.Val283=)
|
rs147374356
|
0.00021
|
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=)
|
rs143689867
|
0.00021
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
NM_001715.3(BLK):c.424A>G (p.Ile142Val)
|
rs562247916
|
0.00021
|
NM_004130.4(GYG1):c.829-13G>A
|
rs188887329
|
0.00021
|
NM_005566.4(LDHA):c.777G>A (p.Leu259=)
|
rs137996815
|
0.00021
|
NM_175914.5(HNF4A):c.427-4G>A
|
rs146751799
|
0.00021
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
NM_000434.4(NEU1):c.*581G>A
|
rs551222239
|
0.00020
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
NM_001360016.2(G6PD):c.486-14C>T
|
rs200833520
|
0.00020
|
NM_002863.5(PYGL):c.691G>A (p.Val231Met)
|
rs148378112
|
0.00020
|
NM_005327.7(HADH):c.*514A>G
|
rs183594888
|
0.00020
|
NM_022895.3(C12orf43):c.*1796G>A
|
rs927067298
|
0.00020
|
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr)
|
rs201166587
|
0.00019
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=)
|
rs193922403
|
0.00019
|
NM_000365.6(TPI1):c.116-12T>C
|
rs369077745
|
0.00019
|
NM_000528.4(MAN2B1):c.1110-15C>T
|
rs202085731
|
0.00019
|
NM_000545.8(HNF1A):c.1623+23C>T
|
rs201167179
|
0.00019
|
NM_000545.8(HNF1A):c.1624-30C>T
|
rs563879035
|
0.00019
|
NM_001040716.2(PC):c.1683G>A (p.Pro561=)
|
rs113071273
|
0.00019
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
0.00019
|
NM_001360016.2(G6PD):c.864+17A>T
|
rs377041776
|
0.00019
|
NM_002103.5(GYS1):c.207G>A (p.Thr69=)
|
rs540438011
|
0.00019
|
NM_022895.3(C12orf43):c.*2514A>T
|
rs143731661
|
0.00019
|
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)
|
rs147251143
|
0.00019
|
NM_152419.3(HGSNAT):c.493+13T>A
|
rs201688937
|
0.00019
|
NM_175914.5(HNF4A):c.*3013A>G
|
rs773868595
|
0.00019
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
NM_000154.2(GALK1):c.987G>A (p.Val329=)
|
rs184160171
|
0.00018
|
NM_000162.5(GCK):c.208+16C>T
|
rs377747439
|
0.00018
|
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)
|
rs202166915
|
0.00018
|
NM_000289.6(PFKM):c.844-17T>A
|
rs372870462
|
0.00018
|
NM_000294.3(PHKG2):c.921G>T (p.Arg307=)
|
rs201113602
|
0.00018
|
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly)
|
rs141391488
|
0.00018
|
NM_000891.3(KCNJ2):c.*1465A>G
|
rs183514608
|
0.00018
|
NM_002294.3(LAMP2):c.*477T>C
|
rs750939378
|
0.00018
|
NM_006765.4(TUSC3):c.568-15A>G
|
rs186717319
|
0.00018
|
NM_000162.5(GCK):c.-17C>T
|
rs190731555
|
0.00017
|
NM_000203.5(IDUA):c.630C>T (p.Arg210=)
|
rs376012666
|
0.00017
|
NM_000545.8(HNF1A):c.1500C>T (p.His500=)
|
rs201694197
|
0.00017
|
NM_000545.8(HNF1A):c.693G>A (p.Thr231=)
|
rs145240086
|
0.00017
|
NM_000891.3(KCNJ2):c.*108G>A
|
rs188588568
|
0.00017
|
NM_001360016.2(G6PD):c.381C>T (p.Ala127=)
|
rs781997962
|
0.00017
|
NM_000152.5(GAA):c.2799+19G>A
|
rs558187268
|
0.00016
|
NM_000162.5(GCK):c.735G>A (p.Glu245=)
|
rs775481896
|
0.00016
|
NM_000181.4(GUSB):c.1329C>T (p.Val443=)
|
rs139776224
|
0.00016
|
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys)
|
rs142248439
|
0.00016
|
NM_000202.8(IDS):c.41G>A (p.Gly14Asp)
|
rs373389352
|
0.00016
|
NM_000203.5(IDUA):c.1403-14G>T
|
rs368368416
|
0.00016
|
NM_000293.3(PHKB):c.2766-8T>C
|
rs186710481
|
0.00016
|
NM_000458.4(HNF1B):c.*403A>G
|
rs557216745
|
0.00016
|
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His)
|
rs202174515
|
0.00016
|
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala)
|
rs199969388
|
0.00016
|
NM_003384.3(VRK1):c.710-13C>T
|
rs374386994
|
0.00016
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
NM_021957.4(GYS2):c.1063-15C>G
|
rs150691568
|
0.00016
|
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)
|
rs138036688
|
0.00016
|
NM_175914.5(HNF4A):c.*1087G>C
|
rs540463510
|
0.00016
|
NM_175914.5(HNF4A):c.*2193T>C
|
rs148871044
|
0.00016
|
NM_175914.5(HNF4A):c.50-4753G>A
|
rs566155738
|
0.00016
|
NM_175914.5(HNF4A):c.582+12C>T
|
rs372596032
|
0.00016
|
NM_000046.5(ARSB):c.750A>G (p.Glu250=)
|
rs200985327
|
0.00015
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
NM_000155.4(GALT):c.564+15G>A
|
rs111033732
|
0.00015
|
NM_000162.5(GCK):c.364-13G>A
|
rs372405219
|
0.00015
|
NM_000202.8(IDS):c.445T>G (p.Ser149Ala)
|
rs146846763
|
0.00015
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
NM_002294.3(LAMP2):c.1093+2450G>A
|
rs149783672
|
0.00015
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
NM_005609.4(PYGM):c.-76A>G
|
rs139467558
|
0.00015
|
NM_006516.4(SLC2A1):c.*971G>A
|
rs185891628
|
0.00015
|
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)
|
rs200410163
|
0.00015
|
NM_000108.5(DLD):c.1395T>C (p.Asn465=)
|
rs76313180
|
0.00014
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)
|
rs149486847
|
0.00014
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
NM_000284.4(PDHA1):c.1008+7T>G
|
rs768994523
|
0.00014
|
NM_000293.3(PHKB):c.76+2537G>A
|
rs145777693
|
0.00014
|
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
|
rs148720069
|
0.00014
|
NM_000525.4(KCNJ11):c.*697G>A
|
rs117976105
|
0.00014
|
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys)
|
rs112795811
|
0.00014
|
NM_001040716.2(PC):c.1494A>G (p.Gln498=)
|
rs761935997
|
0.00014
|
NM_002294.3(LAMP2):c.*3452T>C
|
rs752469856
|
0.00014
|
NM_002294.3(LAMP2):c.1093+2478A>G
|
rs140936359
|
0.00014
|
NM_002294.3(LAMP2):c.591G>A (p.Val197=)
|
rs201030806
|
0.00014
|
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His)
|
rs149998596
|
0.00014
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
NM_021957.4(GYS2):c.1767T>C (p.Thr589=)
|
rs147417298
|
0.00014
|
NM_022895.3(C12orf43):c.*2097G>A
|
rs750496742
|
0.00014
|
NM_031229.4(RBCK1):c.957G>A (p.Ala319=)
|
rs148685980
|
0.00014
|
NM_152419.3(HGSNAT):c.821-28T>C
|
rs201415703
|
0.00014
|
NM_175914.5(HNF4A):c.*1364G>A
|
rs187923731
|
0.00014
|
NM_175914.5(HNF4A):c.*3068C>T
|
rs753843962
|
0.00014
|
NM_175914.5(HNF4A):c.*427G>T
|
rs144306069
|
0.00014
|
NM_000151.4(G6PC1):c.*1304G>A
|
rs549833149
|
0.00013
|
NM_000155.4(GALT):c.507+12C>T
|
rs199572263
|
0.00013
|
NM_000202.8(IDS):c.103+7C>T
|
rs369735286
|
0.00013
|
NM_000284.4(PDHA1):c.292-5C>T
|
rs191666624
|
0.00013
|
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=)
|
rs748792637
|
0.00013
|
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp)
|
rs114202595
|
0.00013
|
NM_002637.4(PHKA1):c.718-12C>A
|
rs782227106
|
0.00013
|
NM_005327.7(HADH):c.133-15C>T
|
rs190144364
|
0.00013
|
NM_006516.4(SLC2A1):c.517-18G>A
|
rs372553463
|
0.00013
|
NM_017755.6(NSUN2):c.*563C>T
|
rs374769713
|
0.00013
|
NM_022895.3(C12orf43):c.*2340G>A
|
rs1026422272
|
0.00013
|
NM_024989.4(PGAP1):c.1848T>C (p.Ser616=)
|
rs374678391
|
0.00013
|
NM_175914.5(HNF4A):c.*1363C>T
|
rs769165584
|
0.00013
|
NM_000202.8(IDS):c.667G>A (p.Val223Ile)
|
rs200784263
|
0.00012
|
NM_000284.4(PDHA1):c.*707G>A
|
rs150945967
|
0.00012
|
NM_000284.4(PDHA1):c.363C>T (p.His121=)
|
rs183170654
|
0.00012
|
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)
|
rs138727886
|
0.00012
|
NM_000292.3(PHKA2):c.1246-12C>T
|
rs759418361
|
0.00012
|
NM_000293.3(PHKB):c.1350C>T (p.Ile450=)
|
rs199941695
|
0.00012
|
NM_000308.4(CTSA):c.468C>T (p.Ala156=)
|
rs190565374
|
0.00012
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
NM_002294.3(LAMP2):c.1162G>T (p.Val388Leu)
|
rs372906565
|
0.00012
|
NM_004130.4(GYG1):c.499C>T (p.Leu167=)
|
rs551623234
|
0.00012
|
NM_021957.4(GYS2):c.1549+19G>A
|
rs369697631
|
0.00012
|
NM_024989.4(PGAP1):c.2287-11A>G
|
rs369759909
|
0.00012
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile)
|
rs372205468
|
0.00011
|
NM_000202.8(IDS):c.236C>G (p.Ala79Gly)
|
rs368513342
|
0.00011
|
NM_000202.8(IDS):c.957C>T (p.Asp319=)
|
rs782488487
|
0.00011
|
NM_000284.4(PDHA1):c.*1450C>T
|
rs747229060
|
0.00011
|
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
|
rs33918436
|
0.00011
|
NM_000458.4(HNF1B):c.420C>T (p.Val140=)
|
rs370134885
|
0.00011
|
NM_000545.8(HNF1A):c.1624-19G>A
|
rs193922586
|
0.00011
|
NM_000891.3(KCNJ2):c.-349C>A
|
rs370696463
|
0.00011
|
NM_002500.5(NEUROD1):c.*1033T>G
|
rs555224400
|
0.00011
|
NM_005908.4(MANBA):c.849+13A>C
|
rs76954465
|
0.00011
|
NM_006859.4(LIAS):c.393+10G>A
|
rs372094616
|
0.00011
|
NM_006859.4(LIAS):c.726G>A (p.Pro242=)
|
rs371053949
|
0.00011
|
NM_022895.3(C12orf43):c.*2096C>T
|
rs571134960
|
0.00011
|
NM_175914.5(HNF4A):c.*2374G>C
|
rs373068234
|
0.00011
|
NM_000046.5(ARSB):c.204C>A (p.Arg68=)
|
rs559187375
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000202.8(IDS):c.881G>A (p.Arg294Gln)
|
rs782445506
|
0.00010
|
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)
|
rs199606152
|
0.00010
|
NM_000642.3(AGL):c.2192C>T (p.Ala731Val)
|
rs542485403
|
0.00010
|
NM_001360016.2(G6PD):c.519C>T (p.Phe173=)
|
rs200111236
|
0.00010
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)
|
rs142482217
|
0.00010
|
NM_031229.4(RBCK1):c.1308+20G>A
|
rs141923181
|
0.00010
|
NM_000027.4(AGA):c.807-12dup
|
rs749999445
|
0.00009
|
NM_000154.2(GALK1):c.840C>T (p.His280=)
|
rs375779311
|
0.00009
|
NM_000162.5(GCK):c.393C>T (p.Ser131=)
|
rs139139350
|
0.00009
|
NM_000162.5(GCK):c.9C>T (p.Asp3=)
|
rs142553382
|
0.00009
|
NM_000202.8(IDS):c.1227G>A (p.Thr409=)
|
rs201905166
|
0.00009
|
NM_000202.8(IDS):c.234T>C (p.Phe78=)
|
rs782290556
|
0.00009
|
NM_000203.5(IDUA):c.405C>T (p.Ser135=)
|
rs201326626
|
0.00009
|
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)
|
rs199879809
|
0.00009
|
NM_000284.4(PDHA1):c.118-17A>G
|
rs749601456
|
0.00009
|
NM_000289.6(PFKM):c.2040C>T (p.Gly680=)
|
rs369893708
|
0.00009
|
NM_000404.4(GLB1):c.1192A>G (p.Ile398Val)
|
rs199692082
|
0.00009
|
NM_000404.4(GLB1):c.1234-17A>T
|
rs185922201
|
0.00009
|
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=)
|
rs371341958
|
0.00009
|
NM_000545.8(HNF1A):c.225C>T (p.Asp75=)
|
rs202180554
|
0.00009
|
NM_000642.3(AGL):c.1602C>T (p.His534=)
|
rs563472929
|
0.00009
|
NM_001040716.2(PC):c.2586T>C (p.Tyr862=)
|
rs191620803
|
0.00009
|
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=)
|
rs370117126
|
0.00009
|
NM_002294.3(LAMP2):c.*2005C>G
|
rs200014321
|
0.00009
|
NM_002294.3(LAMP2):c.1093+2544A>G
|
rs777128122
|
0.00009
|
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys)
|
rs752321157
|
0.00009
|
NM_006516.4(SLC2A1):c.*463T>C
|
rs186437621
|
0.00009
|
NM_006516.4(SLC2A1):c.-26G>C
|
rs375001117
|
0.00009
|
NM_138413.4(HOGA1):c.284G>A (p.Arg95His)
|
rs754634699
|
0.00009
|
NM_175914.5(HNF4A):c.*977C>G
|
rs367907885
|
0.00009
|
NM_175914.5(HNF4A):c.408G>A (p.Ala136=)
|
rs374298096
|
0.00009
|
NM_175914.5(HNF4A):c.427-5C>T
|
rs374703326
|
0.00009
|
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr)
|
rs376725292
|
0.00008
|
NM_000284.4(PDHA1):c.418+8G>A
|
rs779583146
|
0.00008
|
NM_000284.4(PDHA1):c.708G>A (p.Ala236=)
|
rs750307419
|
0.00008
|
NM_000284.4(PDHA1):c.870C>T (p.His290=)
|
rs761411007
|
0.00008
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)
|
rs779375959
|
0.00008
|
NM_000507.4(FBP1):c.826-9G>C
|
rs200948424
|
0.00008
|
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=)
|
rs199592101
|
0.00008
|
NM_000545.8(HNF1A):c.1309+247G>A
|
rs587777934
|
0.00008
|
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=)
|
rs370300688
|
0.00008
|
NM_000891.3(KCNJ2):c.*1815G>A
|
rs552577704
|
0.00008
|
NM_001360016.2(G6PD):c.120+7A>C
|
rs369904290
|
0.00008
|
NM_002076.4(GNS):c.193-9C>T
|
rs372633889
|
0.00008
|
NM_002103.5(GYS1):c.987C>T (p.Ala329=)
|
rs180906371
|
0.00008
|
NM_002294.3(LAMP2):c.*2794T>C
|
rs368937075
|
0.00008
|
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=)
|
rs368071005
|
0.00008
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
NM_021957.4(GYS2):c.615C>T (p.His205=)
|
rs569279347
|
0.00008
|
NM_031229.4(RBCK1):c.738G>T (p.Ala246=)
|
rs2281553
|
0.00008
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00008
|
NM_000027.4(AGA):c.622+20G>T
|
rs200102826
|
0.00007
|
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=)
|
rs773338429
|
0.00007
|
NM_000284.4(PDHA1):c.217C>A (p.Arg73=)
|
rs761538559
|
0.00007
|
NM_000292.3(PHKA2):c.1793+18T>A
|
rs567115484
|
0.00007
|
NM_000545.8(HNF1A):c.42G>A (p.Ala14=)
|
rs775391034
|
0.00007
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
NM_001040716.2(PC):c.322-10C>T
|
rs371834866
|
0.00007
|
NM_002103.5(GYS1):c.556G>A (p.Val186Ile)
|
rs138330298
|
0.00007
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)
|
rs751094298
|
0.00007
|
NM_175914.5(HNF4A):c.*3018G>A
|
rs533361991
|
0.00007
|
NM_175914.5(HNF4A):c.1064-19C>T
|
rs202202465
|
0.00007
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
NM_000152.5(GAA):c.858+24G>C
|
rs770608668
|
0.00006
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
NM_000162.5(GCK):c.363+10G>A
|
rs758495950
|
0.00006
|
NM_000162.5(GCK):c.561C>T (p.Asp187=)
|
rs754722633
|
0.00006
|
NM_000181.4(GUSB):c.678C>T (p.Thr226=)
|
rs537957979
|
0.00006
|
NM_000202.8(IDS):c.27C>T (p.Gly9=)
|
rs782412902
|
0.00006
|
NM_000202.8(IDS):c.753C>T (p.Pro251=)
|
rs782051908
|
0.00006
|
NM_000202.8(IDS):c.937C>T (p.Arg313Cys)
|
rs201048643
|
0.00006
|
NM_000203.5(IDUA):c.1773G>A (p.Ala591=)
|
rs148894462
|
0.00006
|
NM_000458.4(HNF1B):c.948C>T (p.Asp316=)
|
rs373132003
|
0.00006
|
NM_000507.4(FBP1):c.798C>T (p.Pro266=)
|
rs142811660
|
0.00006
|
NM_000512.5(GALNS):c.887C>T (p.Ala296Val)
|
rs200371805
|
0.00006
|
NM_000512.5(GALNS):c.921G>T (p.Leu307=)
|
rs201986622
|
0.00006
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
NM_000545.8(HNF1A):c.954C>T (p.His318=)
|
rs193922607
|
0.00006
|
NM_000545.8(HNF1A):c.99G>A (p.Pro33=)
|
rs538619966
|
0.00006
|
NM_001040716.2(PC):c.3042C>T (p.Pro1014=)
|
rs370090137
|
0.00006
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
NM_001715.3(BLK):c.*348C>G
|
rs564964151
|
0.00006
|
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys)
|
rs199696853
|
0.00006
|
NM_001739.2(CA5A):c.543C>T (p.Gly181=)
|
rs534860826
|
0.00006
|
NM_002076.4(GNS):c.876-13T>C
|
rs543570530
|
0.00006
|
NM_002294.3(LAMP2):c.*2183T>C
|
rs765214315
|
0.00006
|
NM_002294.3(LAMP2):c.1094-4C>T
|
rs768756537
|
0.00006
|
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)
|
rs17721570
|
0.00006
|
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=)
|
rs539749063
|
0.00006
|
NM_003597.5(KLF11):c.1450G>A (p.Gly484Ser)
|
rs750063435
|
0.00006
|
NM_005566.4(LDHA):c.710+9T>A
|
rs182873744
|
0.00006
|
NM_006516.4(SLC2A1):c.19-12G>A
|
rs372344816
|
0.00006
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala)
|
rs761847384
|
0.00006
|
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met)
|
rs140646346
|
0.00006
|
NM_053013.4(ENO3):c.1208G>A (p.Arg403His)
|
rs561474067
|
0.00006
|
NM_175914.5(HNF4A):c.*1821C>T
|
rs886056686
|
0.00006
|
NM_175914.5(HNF4A):c.321C>T (p.Ala107=)
|
rs138290205
|
0.00006
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
NM_175914.5(HNF4A):c.427-16C>T
|
rs535994220
|
0.00006
|
NM_175914.5(HNF4A):c.624C>T (p.Leu208=)
|
rs759084238
|
0.00006
|
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys)
|
rs368650877
|
0.00005
|
NM_000202.8(IDS):c.1158C>T (p.Ser386=)
|
rs372340411
|
0.00005
|
NM_000202.8(IDS):c.23G>T (p.Arg8Leu)
|
rs782621858
|
0.00005
|
NM_000202.8(IDS):c.851C>T (p.Pro284Leu)
|
rs782286857
|
0.00005
|
NM_000202.8(IDS):c.868G>A (p.Val290Met)
|
rs782479238
|
0.00005
|
NM_000202.8(IDS):c.894G>A (p.Gln298=)
|
rs781812519
|
0.00005
|
NM_000284.4(PDHA1):c.1009-9A>C
|
rs372177460
|
0.00005
|
NM_000284.4(PDHA1):c.693G>A (p.Thr231=)
|
rs138237215
|
0.00005
|
NM_000284.4(PDHA1):c.759+10C>G
|
rs375488072
|
0.00005
|
NM_000545.8(HNF1A):c.1624-29G>A
|
rs532689884
|
0.00005
|
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=)
|
rs67120636
|
0.00005
|
NM_001014436.3(DBNL):c.*2017A>G
|
rs367994618
|
0.00005
|
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)
|
rs782308530
|
0.00005
|
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)
|
rs5030870
|
0.00005
|
NM_001360016.2(G6PD):c.690C>T (p.Ile230=)
|
rs781917123
|
0.00005
|
NM_001715.3(BLK):c.369-2A>G
|
rs137986278
|
0.00005
|
NM_002294.3(LAMP2):c.158G>A (p.Arg53His)
|
rs397516735
|
0.00005
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
0.00005
|
NM_012203.2(GRHPR):c.357A>G (p.Leu119=)
|
rs186922220
|
0.00005
|
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met)
|
rs558586992
|
0.00005
|
NM_175914.5(HNF4A):c.*2182G>A
|
rs138556808
|
0.00005
|
NM_175914.5(HNF4A):c.50-4496C>T
|
rs189943469
|
0.00005
|
NM_175914.5(HNF4A):c.670+7C>T
|
rs376544046
|
0.00005
|
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)
|
rs202190197
|
0.00004
|
NM_000162.5(GCK):c.*678G>T
|
rs555058443
|
0.00004
|
NM_000162.5(GCK):c.363+6C>A
|
rs751756042
|
0.00004
|
NM_000162.5(GCK):c.834C>T (p.Asp278=)
|
rs200071687
|
0.00004
|
NM_000202.8(IDS):c.1290G>A (p.Glu430=)
|
rs140633427
|
0.00004
|
NM_000202.8(IDS):c.162T>C (p.Tyr54=)
|
rs141088021
|
0.00004
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
NM_000202.8(IDS):c.450G>A (p.Pro150=)
|
rs201892132
|
0.00004
|
NM_000284.4(PDHA1):c.291+12G>A
|
rs755244308
|
0.00004
|
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
|
rs772301967
|
0.00004
|
NM_000292.3(PHKA2):c.3327G>A (p.Thr1109=)
|
rs768419165
|
0.00004
|
NM_000293.3(PHKB):c.*148T>A
|
rs368887864
|
0.00004
|
NM_000293.3(PHKB):c.870+10T>A
|
rs144932435
|
0.00004
|
NM_000458.4(HNF1B):c.723G>A (p.Ala241=)
|
rs768490293
|
0.00004
|
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)
|
rs774714794
|
0.00004
|
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys)
|
rs370276057
|
0.00004
|
NM_000545.8(HNF1A):c.1310-12C>T
|
rs193922579
|
0.00004
|
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=)
|
rs772756175
|
0.00004
|
NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
|
rs193922583
|
0.00004
|
NM_000545.8(HNF1A):c.527-18G>A
|
rs375259151
|
0.00004
|
NM_000642.3(AGL):c.2280C>T (p.Ser760=)
|
rs373513564
|
0.00004
|
NM_001040716.2(PC):c.879C>T (p.Ser293=)
|
rs183131461
|
0.00004
|
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=)
|
rs532108774
|
0.00004
|
NM_001715.3(BLK):c.672C>T (p.Ala224=)
|
rs201252364
|
0.00004
|
NM_002103.5(GYS1):c.354C>T (p.Asp118=)
|
rs374959862
|
0.00004
|
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val)
|
rs397516741
|
0.00004
|
NM_002294.3(LAMP2):c.929-5T>C
|
rs375341409
|
0.00004
|
NM_002637.4(PHKA1):c.750A>G (p.Ser250=)
|
rs201801654
|
0.00004
|
NM_003477.3(PDHX):c.1188A>G (p.Leu396=)
|
rs200434738
|
0.00004
|
NM_005327.7(HADH):c.324C>T (p.Ser108=)
|
rs373153417
|
0.00004
|
NM_005327.7(HADH):c.384C>T (p.Asn128=)
|
rs369550874
|
0.00004
|
NM_005327.7(HADH):c.795C>T (p.Val265=)
|
rs143416676
|
0.00004
|
NM_005566.4(LDHA):c.951G>A (p.Lys317=)
|
rs145889467
|
0.00004
|
NM_006488.3(KHK):c.*554C>T
|
rs558714226
|
0.00004
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
NM_006516.4(SLC2A1):c.276-19C>T
|
rs74945664
|
0.00004
|
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His)
|
rs374080633
|
0.00004
|
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)
|
rs534113895
|
0.00004
|
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)
|
rs55693364
|
0.00004
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
0.00004
|
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)
|
rs201735117
|
0.00004
|
NM_021957.4(GYS2):c.1128C>T (p.Asn376=)
|
rs139043251
|
0.00004
|
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser)
|
rs587637619
|
0.00004
|
NM_175914.5(HNF4A):c.*1828G>A
|
rs759101859
|
0.00004
|
NM_175914.5(HNF4A):c.*2297C>A
|
rs1341485123
|
0.00004
|
NM_000147.5(FUCA1):c.67G>C (p.Gly23Arg)
|
rs551560114
|
0.00003
|
NM_000152.5(GAA):c.351G>A (p.Leu117=)
|
rs574947353
|
0.00003
|
NM_000162.5(GCK):c.-135G>A
|
rs746492953
|
0.00003
|
NM_000162.5(GCK):c.-279C>T
|
rs997877536
|
0.00003
|
NM_000162.5(GCK):c.-5T>C
|
rs193922251
|
0.00003
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
NM_000162.5(GCK):c.348C>T (p.Thr116=)
|
rs770145567
|
0.00003
|
NM_000181.4(GUSB):c.633C>T (p.Tyr211=)
|
rs140278510
|
0.00003
|
NM_000199.5(SGSH):c.633C>A (p.Thr211=)
|
rs187147954
|
0.00003
|
NM_000202.8(IDS):c.684A>G (p.Pro228=)
|
rs782561677
|
0.00003
|
NM_000284.4(PDHA1):c.390C>T (p.Ser130=)
|
rs756138817
|
0.00003
|
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
|
rs770667770
|
0.00003
|
NM_000294.3(PHKG2):c.802-17C>T
|
rs772388120
|
0.00003
|
NM_000343.4(SLC5A1):c.*771C>T
|
rs550005508
|
0.00003
|
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)
|
rs750778014
|
0.00003
|
NM_000545.8(HNF1A):c.-6C>T
|
rs779387337
|
0.00003
|
NM_000545.8(HNF1A):c.900C>T (p.Pro300=)
|
rs762555237
|
0.00003
|
NM_000891.3(KCNJ2):c.225G>A (p.Thr75=)
|
rs192172778
|
0.00003
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu)
|
rs755021062
|
0.00003
|
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln)
|
rs766962315
|
0.00003
|
NM_002294.3(LAMP2):c.1094-16C>T
|
rs772976829
|
0.00003
|
NM_002294.3(LAMP2):c.300G>A (p.Ala100=)
|
rs765548221
|
0.00003
|
NM_002294.3(LAMP2):c.750A>C (p.Ser250=)
|
rs765836082
|
0.00003
|
NM_002637.4(PHKA1):c.3669A>G (p.Gln1223=)
|
rs782257959
|
0.00003
|
NM_005327.7(HADH):c.486A>G (p.Arg162=)
|
rs377521547
|
0.00003
|
NM_152419.3(HGSNAT):c.1542+20C>T
|
rs548171657
|
0.00003
|
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)
|
rs200416815
|
0.00003
|
NM_175914.5(HNF4A):c.*1616G>A
|
rs886056685
|
0.00003
|
NM_175914.5(HNF4A):c.*2779A>C
|
rs755438203
|
0.00003
|
NM_175914.5(HNF4A):c.*572C>A
|
rs761017274
|
0.00003
|
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=)
|
rs142268325
|
0.00003
|
NM_175914.5(HNF4A):c.319+10G>A
|
rs375708199
|
0.00003
|
NM_175914.5(HNF4A):c.396G>A (p.Ala132=)
|
rs370329321
|
0.00003
|
NM_175914.5(HNF4A):c.826+79C>T
|
rs773386088
|
0.00003
|
NM_175914.5(HNF4A):c.924G>T (p.Ser308=)
|
rs140146223
|
0.00003
|
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=)
|
rs776022311
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000162.3(GCK):c.-487C>G
|
rs1329261791
|
0.00002
|
NM_000162.5(GCK):c.-452G>A
|
rs187173652
|
0.00002
|
NM_000162.5(GCK):c.483+3G>A
|
rs1311596702
|
0.00002
|
NM_000202.8(IDS):c.1113G>A (p.Pro371=)
|
rs146615651
|
0.00002
|
NM_000202.8(IDS):c.1347G>A (p.Glu449=)
|
rs782690963
|
0.00002
|
NM_000202.8(IDS):c.177G>A (p.Val59=)
|
rs782743276
|
0.00002
|
NM_000202.8(IDS):c.696C>T (p.Phe232=)
|
rs782498858
|
0.00002
|
NM_000284.4(PDHA1):c.327C>T (p.Asn109=)
|
rs772943333
|
0.00002
|
NM_000284.4(PDHA1):c.759+9A>G
|
rs2643456
|
0.00002
|
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)
|
rs753681797
|
0.00002
|
NM_000293.3(PHKB):c.2278+15C>G
|
rs201402032
|
0.00002
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
NM_000402.4(G6PD):c.944G>A (p.Arg315His)
|
rs74575103
|
0.00002
|
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly)
|
rs375644184
|
0.00002
|
NM_000545.8(HNF1A):c.216C>T (p.Asp72=)
|
rs148961412
|
0.00002
|
NM_000545.8(HNF1A):c.978G>A (p.Ala326=)
|
rs200351196
|
0.00002
|
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=)
|
rs544384907
|
0.00002
|
NM_001040716.2(PC):c.1167G>A (p.Pro389=)
|
rs556534486
|
0.00002
|
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val)
|
rs201967384
|
0.00002
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
NM_002076.4(GNS):c.285A>G (p.Arg95=)
|
rs545765198
|
0.00002
|
NM_002103.5(GYS1):c.1020C>T (p.Asp340=)
|
rs13306415
|
0.00002
|
NM_002294.3(LAMP2):c.1125C>T (p.Phe375=)
|
rs746288560
|
0.00002
|
NM_002294.3(LAMP2):c.557-12C>T
|
rs756269189
|
0.00002
|
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln)
|
rs750118236
|
0.00002
|
NM_002294.3(LAMP2):c.797G>A (p.Arg266His)
|
rs200934351
|
0.00002
|
NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg)
|
rs556400603
|
0.00002
|
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn)
|
rs201601894
|
0.00002
|
NM_006516.4(SLC2A1):c.*285C>T
|
rs144947295
|
0.00002
|
NM_006516.4(SLC2A1):c.1278+9C>G
|
rs550156548
|
0.00002
|
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)
|
rs201996220
|
0.00002
|
NM_175914.5(HNF4A):c.*867G>A
|
rs940169046
|
0.00002
|
NM_000030.3(AGXT):c.537G>C (p.Leu179=)
|
rs565927450
|
0.00001
|
NM_000035.4(ALDOB):c.-1C>T
|
rs560091436
|
0.00001
|
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)
|
rs574635615
|
0.00001
|
NM_000046.5(ARSB):c.313-12T>C
|
rs574816959
|
0.00001
|
NM_000151.4(G6PC1):c.615C>T (p.Ser205=)
|
rs374522795
|
0.00001
|
NM_000158.4(GBE1):c.2016G>A (p.Glu672=)
|
rs571448518
|
0.00001
|
NM_000162.5(GCK):c.*297T>G
|
rs527259972
|
0.00001
|
NM_000162.5(GCK):c.*723A>G
|
rs886062345
|
0.00001
|
NM_000162.5(GCK):c.1253+12C>T
|
rs768491249
|
0.00001
|
NM_000162.5(GCK):c.129C>T (p.Arg43=)
|
rs760912915
|
0.00001
|
NM_000162.5(GCK):c.609G>A (p.Val203=)
|
rs776703291
|
0.00001
|
NM_000181.4(GUSB):c.*55C>T
|
rs372605666
|
0.00001
|
NM_000202.8(IDS):c.1143C>T (p.Leu381=)
|
rs781805300
|
0.00001
|
NM_000202.8(IDS):c.1181-15C>T
|
rs199965368
|
0.00001
|
NM_000202.8(IDS):c.13C>T (p.Arg5Trp)
|
rs141900718
|
0.00001
|
NM_000203.5(IDUA):c.1525-7C>A
|
rs184807155
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152
|
0.00001
|
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)
|
rs147510382
|
0.00001
|
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=)
|
rs749696135
|
0.00001
|
NM_000284.4(PDHA1):c.292-11C>T
|
rs776535833
|
0.00001
|
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
|
rs769308417
|
0.00001
|
NM_000284.4(PDHA1):c.899+10T>C
|
rs1471723235
|
0.00001
|
NM_000289.6(PFKM):c.1401T>C (p.Leu467=)
|
rs554664722
|
0.00001
|
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
|
rs753083173
|
0.00001
|
NM_000293.3(PHKB):c.3144+9A>C
|
rs200504388
|
0.00001
|
NM_000293.3(PHKB):c.595-5T>G
|
rs369184808
|
0.00001
|
NM_000293.3(PHKB):c.710+12A>C
|
rs542318460
|
0.00001
|
NM_000343.4(SLC5A1):c.373-13G>A
|
rs201398293
|
0.00001
|
NM_000343.4(SLC5A1):c.373-9C>T
|
rs199690019
|
0.00001
|
NM_000512.5(GALNS):c.567-3C>T
|
rs549597016
|
0.00001
|
NM_000545.8(HNF1A):c.1309+238G>A
|
rs564888406
|
0.00001
|
NM_000545.8(HNF1A):c.1623+20G>A
|
rs1012229716
|
0.00001
|
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=)
|
rs762669462
|
0.00001
|
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=)
|
rs756416683
|
0.00001
|
NM_000545.8(HNF1A):c.246G>A (p.Thr82=)
|
rs752243228
|
0.00001
|
NM_000545.8(HNF1A):c.537T>C (p.His179=)
|
rs765329757
|
0.00001
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
NM_000545.8(HNF1A):c.894G>A (p.Ala298=)
|
rs951696015
|
0.00001
|
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)
|
rs764236940
|
0.00001
|
NM_000891.3(KCNJ2):c.*572G>T
|
rs566129544
|
0.00001
|
NM_000891.3(KCNJ2):c.1035C>T (p.His345=)
|
rs201747514
|
0.00001
|
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)
|
rs555386610
|
0.00001
|
NM_000925.4(PDHB):c.43-18T>C
|
rs548113809
|
0.00001
|
NM_001040716.2(PC):c.2535C>T (p.Tyr845=)
|
rs534635326
|
0.00001
|
NM_001040716.2(PC):c.3234T>C (p.Phe1078=)
|
rs531640812
|
0.00001
|
NM_001040716.2(PC):c.634-5C>T
|
rs373145902
|
0.00001
|
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)
|
rs561701030
|
0.00001
|
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=)
|
rs752231323
|
0.00001
|
NM_002500.5(NEUROD1):c.*6C>A
|
rs576676213
|
0.00001
|
NM_002637.4(PHKA1):c.2370-14C>T
|
rs782784720
|
0.00001
|
NM_002863.5(PYGL):c.-29A>C
|
rs538311514
|
0.00001
|
NM_003597.5(KLF11):c.*192T>C
|
rs552960564
|
0.00001
|
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys)
|
rs142784073
|
0.00001
|
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu)
|
rs552066337
|
0.00001
|
NM_005271.5(GLUD1):c.630A>G (p.Ala210=)
|
rs368203417
|
0.00001
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
NM_005327.7(HADH):c.579A>G (p.Thr193=)
|
rs762771153
|
0.00001
|
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=)
|
rs371264447
|
0.00001
|
NM_005609.4(PYGM):c.1240-16G>A
|
rs573898801
|
0.00001
|
NM_005908.4(MANBA):c.1512G>A (p.Thr504=)
|
rs143694332
|
0.00001
|
NM_012203.2(GRHPR):c.636C>T (p.Ile212=)
|
rs548848730
|
0.00001
|
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=)
|
rs373000537
|
0.00001
|
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu)
|
rs368522976
|
0.00001
|
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln)
|
rs780864954
|
0.00001
|
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg)
|
rs1280299073
|
0.00001
|
NM_021957.4(GYS2):c.942-7del
|
rs537907545
|
0.00001
|
NM_022895.3(C12orf43):c.*1871A>G
|
rs1045819255
|
0.00001
|
NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)
|
rs559380161
|
0.00001
|
NM_175914.5(HNF4A):c.*2511A>G
|
rs1277613130
|
0.00001
|
NM_175914.5(HNF4A):c.*2558T>C
|
rs886056688
|
0.00001
|
NM_175914.5(HNF4A):c.*765G>A
|
rs886056681
|
0.00001
|
NM_175914.5(HNF4A):c.*782G>A
|
rs886056682
|
0.00001
|
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser)
|
rs150776703
|
0.00001
|
NM_175914.5(HNF4A):c.1302C>T (p.Ile434=)
|
rs199884828
|
0.00001
|
NM_175914.5(HNF4A):c.369G>A (p.Glu123=)
|
rs772959288
|
0.00001
|
NM_175914.5(HNF4A):c.489A>G (p.Ala163=)
|
rs1568731613
|
0.00001
|
NM_175914.5(HNF4A):c.49+13G>A
|
rs759324522
|
0.00001
|
NM_175914.5(HNF4A):c.582+4A>G
|
rs376287515
|
0.00001
|
NM_175914.5(HNF4A):c.723G>C (p.Arg241=)
|
rs372639360
|
0.00001
|
NM_198586.3(NHLRC1):c.504G>T (p.Gly168=)
|
rs529490452
|
0.00001
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
NM_000027.4(AGA):c.394+10dup
|
rs761207366
|
|
NM_000027.4(AGA):c.395-12del
|
|
|
NM_000027.4(AGA):c.623-10del
|
rs745896951
|
|
NM_000027.4(AGA):c.623-11_623-10del
|
|
|
NM_000027.4(AGA):c.623-21dup
|
rs745896951
|
|
NM_000027.4(AGA):c.806+13_806+16del
|
rs369977700
|
|
NM_000030.3(AGXT):c.-23G>A
|
rs116057889
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
NM_000030.3(AGXT):c.358+163G>T
|
rs11681134
|
|
NM_000030.3(AGXT):c.839C>T (p.Ala280Val)
|
rs73106685
|
|
NM_000035.4(ALDOB):c.400C>A (p.Arg134Ser)
|
rs10123355
|
|
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
|
rs146360505
|
|
NM_000046.4(ARSB):c.-322dup
|
rs11424557
|
|
NM_000046.5(ARSB):c.*2975G>T
|
rs3088247
|
|
NM_000046.5(ARSB):c.1081G>T (p.Ala361Ser)
|
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
NM_000046.5(ARSB):c.1337-15del
|
|
|
NM_000046.5(ARSB):c.312+15del
|
|
|
NM_000046.5(ARSB):c.690+9del
|
rs2112513488
|
|
NM_000108.5(DLD):c.*470G>T
|
rs111619940
|
|
NM_000108.5(DLD):c.*947G>T
|
rs7777259
|
|
NM_000108.5(DLD):c.1237-15_1237-14del
|
|
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
NM_000108.5(DLD):c.40-5del
|
|
|
NM_000108.5(DLD):c.439-7del
|
|
|
NM_000108.5(DLD):c.685-14del
|
rs759170630
|
|
NM_000147.5(FUCA1):c.1017T>C (p.Ile339=)
|
|
|
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)
|
rs2070956
|
|
NM_000147.5(FUCA1):c.389+18del
|
|
|
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu)
|
rs2228424
|
|
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro)
|
rs61996282
|
|
NM_000151.4(G6PC1):c.*1227dup
|
rs397735497
|
|
NM_000151.4(G6PC1):c.*1545TTTTAGAA[1]
|
rs397717945
|
|
NM_000152.5(GAA):c.1194+11del
|
rs2143856264
|
|
NM_000152.5(GAA):c.1326+12del
|
|
|
NM_000152.5(GAA):c.1377C>T (p.Asp459=)
|
rs778121058
|
|
NM_000152.5(GAA):c.1446C>T (p.Pro482=)
|
rs529513250
|
|
NM_000152.5(GAA):c.1551+15del
|
|
|
NM_000152.5(GAA):c.1637-12dup
|
|
|
NM_000152.5(GAA):c.2041-14del
|
|
|
NM_000152.5(GAA):c.2041-14dup
|
|
|
NM_000152.5(GAA):c.2331+48C>A
|
rs2143921034
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000154.2(GALK1):c.165+8dup
|
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.3(GALT):c.[652C>T;c.940A>G]
|
|
|
NM_000155.4(GALT):c.253-11C>T
|
|
|
NM_000155.4(GALT):c.414G>T (p.Thr138=)
|
rs116479817
|
|
NM_000155.4(GALT):c.508-17G>A
|
rs12000481
|
|
NM_000155.4(GALT):c.820+2T>C
|
|
|
NM_000158.4(GBE1):c.*494A>T
|
rs145934828
|
|
NM_000158.4(GBE1):c.*523T>A
|
rs113749146
|
|
NM_000158.4(GBE1):c.-35dup
|
rs11391701
|
|
NM_000158.4(GBE1):c.1000= (p.Ile334=)
|
|
|
NM_000158.4(GBE1):c.1010T>A (p.Phe337Tyr)
|
|
|
NM_000158.4(GBE1):c.1109-6del
|
rs747483974
|
|
NM_000158.4(GBE1):c.2053-3372del
|
rs34052684
|
|
NM_000158.4(GBE1):c.2053-3382dup
|
rs34052684
|
|
NM_000158.4(GBE1):c.555+14del
|
rs573234623
|
|
NM_000162.5(GCK):c.*270C>T
|
rs886062348
|
|
NM_000162.5(GCK):c.*548G>A
|
rs886062347
|
|
NM_000162.5(GCK):c.*721C>T
|
rs886062346
|
|
NM_000162.5(GCK):c.*844A>C
|
rs886062344
|
|
NM_000162.5(GCK):c.-137C>G
|
rs2096324530
|
|
NM_000162.5(GCK):c.-217C>G
|
rs73691419
|
|
NM_000162.5(GCK):c.-267G>T
|
rs59914952
|
|
NM_000162.5(GCK):c.-396C>G
|
rs2096324894
|
|
NM_000162.5(GCK):c.-449G>T
|
rs1375544246
|
|
NM_000162.5(GCK):c.-456G>A
|
rs757266656
|
|
NM_000162.5(GCK):c.1019+16G>T
|
rs193922256
|
|
NM_000162.5(GCK):c.1019+275del
|
rs5883890
|
|
NM_000162.5(GCK):c.108G>A (p.Arg36=)
|
rs754169218
|
|
NM_000162.5(GCK):c.1233C>G (p.Ser411=)
|
rs755112715
|
|
NM_000162.5(GCK):c.137G>A (p.Arg46Lys)
|
rs1064796993
|
|
NM_000162.5(GCK):c.183C>T (p.Tyr61=)
|
rs780612692
|
|
NM_000162.5(GCK):c.208+9T>A
|
rs193922288
|
|
NM_000162.5(GCK):c.333C>G (p.Pro111=)
|
rs61736250
|
|
NM_000162.5(GCK):c.45+11C>G
|
rs193922298
|
|
NM_000162.5(GCK):c.46-4438C>T
|
rs41282712
|
|
NM_000162.5(GCK):c.46-4621C>T
|
rs1562722328
|
|
NM_000162.5(GCK):c.483+10G>A
|
rs1554335560
|
|
NM_000162.5(GCK):c.540T>C (p.Asn180=)
|
rs1554335444
|
|
NM_000162.5(GCK):c.579+8G>A
|
rs1562717232
|
|
NM_000162.5(GCK):c.680-14G>C
|
rs577968084
|
|
NM_000162.5(GCK):c.680-15C>T
|
rs369345791
|
|
NM_000162.5(GCK):c.792C>T (p.Gly264=)
|
rs754094813
|
|
NM_000175.5(GPI):c.1356G>C (p.Ala452=)
|
rs34604585
|
|
NM_000175.5(GPI):c.751-5dup
|
rs375313737
|
|
NM_000181.4(GUSB):c.1476+13del
|
rs2115900599
|
|
NM_000181.4(GUSB):c.1476+13dup
|
|
|
NM_000181.4(GUSB):c.1482G>A (p.Pro494=)
|
rs548880426
|
|
NM_000181.4(GUSB):c.1790-5del
|
rs750022485
|
|
NM_000181.4(GUSB):c.397-20dup
|
rs765594686
|
|
NM_000181.4(GUSB):c.724+23TC[3]
|
rs3830444
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)
|
rs200644359
|
|
NM_000199.5(SGSH):c.664-39_664-36delinsGC
|
rs386799751
|
|
NM_000199.5(SGSH):c.664-39_664-38del
|
rs34029730
|
|
NM_000202.8(IDS):c.1007-7G>C
|
rs2124006476
|
|
NM_000202.8(IDS):c.103+5C>T
|
rs782108228
|
|
NM_000202.8(IDS):c.1181-14G>A
|
|
|
NM_000202.8(IDS):c.1327C>A (p.Arg443=)
|
|
|
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr)
|
|
|
NM_000202.8(IDS):c.1548C>T (p.Asp516=)
|
|
|
NM_000202.8(IDS):c.418+14T>C
|
|
|
NM_000202.8(IDS):c.418+17A>G
|
|
|
NM_000202.8(IDS):c.419-16dup
|
rs781852261
|
|
NM_000202.8(IDS):c.419-6del
|
rs781852261
|
|
NM_000202.8(IDS):c.636G>A (p.Met212Ile)
|
|
|
NM_000202.8(IDS):c.709-661del
|
rs1196180401
|
|
NM_000202.8(IDS):c.781C>A (p.Pro261Thr)
|
rs141720810
|
|
NM_000202.8(IDS):c.880-11del
|
|
|
NM_000202.8(IDS):c.880-11dup
|
|
|
NM_000202.8(IDS):c.880-4G>A
|
|
|
NM_000202.8(IDS):c.957C>A (p.Asp319Glu)
|
rs782488487
|
|
NM_000203.5(IDUA):c.1190-10del
|
rs150523349
|
|
NM_000203.5(IDUA):c.1190-10dup
|
rs150523349
|
|
NM_000203.5(IDUA):c.1190-11_1190-10dup
|
rs150523349
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000203.5(IDUA):c.1727+21del
|
|
|
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)
|
rs3755955
|
|
NM_000203.5(IDUA):c.589+20dup
|
|
|
NM_000203.5(IDUA):c.590-45G>C
|
rs6829789
|
|
NM_000203.5(IDUA):c.590-8C>T
|
rs6848974
|
|
NM_000203.5(IDUA):c.590-8del
|
|
|
NM_000203.5(IDUA):c.590-8dup
|
|
|
NM_000203.5(IDUA):c.973-45G>C
|
rs6831021
|
|
NM_000203.5(IDUA):c.99T>A (p.His33Gln)
|
|
|
NM_000207.3(INS):c.67G>A (p.Ala23Thr)
|
rs13306444
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
|
rs193922357
|
|
NM_000262.3(NAGA):c.*1788_*1789del
|
rs10713176
|
|
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)
|
rs186173534
|
|
NM_000262.3(NAGA):c.597+18dup
|
rs553359794
|
|
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile)
|
rs578127376
|
|
NM_000263.4(NAGLU):c.1021+15T>C
|
rs149434978
|
|
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)
|
rs86312
|
|
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)
|
rs86312
|
|
NM_000263.4(NAGLU):c.383+10del
|
|
|
NM_000263.4(NAGLU):c.764+20del
|
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000284.4(PDHA1):c.*1013C>A
|
rs1042456
|
|
NM_000284.4(PDHA1):c.*110C>T
|
rs709610
|
|
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=)
|
rs764728647
|
|
NM_000284.4(PDHA1):c.*525C>G
|
rs778207227
|
|
NM_000284.4(PDHA1):c.1009-17_1009-14dup
|
rs1569193999
|
|
NM_000284.4(PDHA1):c.1009-31_1009-15del
|
|
|
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)
|
|
|
NM_000284.4(PDHA1):c.117+17T>G
|
|
|
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)
|
rs762505127
|
|
NM_000284.4(PDHA1):c.58-18A>C
|
|
|
NM_000284.4(PDHA1):c.604-14G>A
|
rs377192586
|
|
NM_000284.4(PDHA1):c.759+18GGGGCC[3]
|
|
|
NM_000284.4(PDHA1):c.759+21dup
|
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[2]
|
rs11278403
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[4]
|
rs11278403
|
|
NM_000284.4(PDHA1):c.759+34_759+45del
|
rs11278403
|
|
NM_000284.4(PDHA1):c.760-14_760-13del
|
|
|
NM_000284.4(PDHA1):c.760-14dup
|
|
|
NM_000284.4(PDHA1):c.832-14C>T
|
|
|
NM_000284.4(PDHA1):c.900-18_900-14dup
|
|
|
NM_000284.4(PDHA1):c.900-8C>G
|
|
|
NM_000289.6(PFKM):c.*163G>A
|
rs370250637
|
|
NM_000289.6(PFKM):c.1063-5del
|
|
|
NM_000289.6(PFKM):c.1063-5dup
|
|
|
NM_000289.6(PFKM):c.1341+8del
|
rs2135995386
|
|
NM_000289.6(PFKM):c.1413-19G>A
|
|
|
NM_000289.6(PFKM):c.1413-58C>A
|
rs78496902
|
|
NM_000289.6(PFKM):c.1881-17del
|
|
|
NM_000289.6(PFKM):c.1992+14C>A
|
|
|
NM_000289.6(PFKM):c.2092+10del
|
|
|
NM_000289.6(PFKM):c.638+161C>T
|
rs2286021
|
|
NM_000289.6(PFKM):c.85+22dup
|
|
|
NM_000292.3(PHKA2):c.1715-14C>T
|
|
|
NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)
|
|
|
NM_000292.3(PHKA2):c.2806+16C>T
|
|
|
NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)
|
|
|
NM_000293.3(PHKB):c.*1753G>A
|
rs7202866
|
|
NM_000293.3(PHKB):c.1204+16del
|
|
|
NM_000293.3(PHKB):c.2197-17G>A
|
|
|
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del)
|
rs532057230
|
|
NM_000293.3(PHKB):c.2766-14G>T
|
rs375250621
|
|
NM_000293.3(PHKB):c.2858C>T (p.Pro953Leu)
|
|
|
NM_000293.3(PHKB):c.2896-4dup
|
|
|
NM_000293.3(PHKB):c.3144+33_3144+34dup
|
rs5816579
|
|
NM_000293.3(PHKB):c.3144+34del
|
rs5816579
|
|
NM_000293.3(PHKB):c.77-8dup
|
|
|
NM_000293.3(PHKB):c.775-18T>C
|
|
|
NM_000294.3(PHKG2):c.647+20del
|
|
|
NM_000298.6(PKLR):c.*13T>C
|
rs1052177
|
|
NM_000298.6(PKLR):c.375+10G>T
|
rs8177971
|
|
NM_000308.4(CTSA):c.195-7dup
|
rs780400265
|
|
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)
|
rs72555383
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup)
|
rs72555383
|
|
NM_000308.4(CTSA):c.693-11_693-9del
|
rs560285370
|
|
NM_000308.4(CTSA):c.846T>C (p.Ala282=)
|
|
|
NM_000308.4(CTSA):c.870-15del
|
rs3215446
|
|
NM_000308.4(CTSA):c.948+13G>T
|
rs199925152
|
|
NM_000340.2(SLC2A2):c.*725G>C
|
rs79770697
|
|
NM_000340.2(SLC2A2):c.1171-7del
|
|
|
NM_000343.4(SLC5A1):c.*1940G>A
|
rs117112619
|
|
NM_000343.4(SLC5A1):c.1130-10_1130-8del
|
rs770678836
|
|
NM_000343.4(SLC5A1):c.1771+3G>A
|
|
|
NM_000343.4(SLC5A1):c.1772-6G>A
|
rs201685531
|
|
NM_000343.4(SLC5A1):c.885+20G>A
|
|
|
NM_000352.6(ABCC8):c.3558-7G>T
|
rs900191703
|
|
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)
|
rs1554905662
|
|
NM_000352.6(ABCC8):c.4307+13A>G
|
rs886048047
|
|
NM_000404.4(GLB1):c.1143+14del
|
rs376544604
|
|
NM_000404.4(GLB1):c.1143+14dup
|
rs376544604
|
|
NM_000404.4(GLB1):c.1209C>G (p.Pro403=)
|
rs528690108
|
|
NM_000404.4(GLB1):c.1348-5dup
|
|
|
NM_000404.4(GLB1):c.458-13del
|
|
|
NM_000404.4(GLB1):c.734-99G>T
|
rs72856120
|
|
NM_000404.4(GLB1):c.76-16del
|
|
|
NM_000404.4(GLB1):c.792+10G>T
|
rs79518579
|
|
NM_000404.4(GLB1):c.792+18G>A
|
rs202068250
|
|
NM_000404.4(GLB1):c.793-14dup
|
rs943395100
|
|
NM_000434.4(NEU1):c.*210T>A
|
rs13118
|
|
NM_000458.4(HNF1B):c.*938A>G
|
rs574000398
|
|
NM_000458.4(HNF1B):c.-31C>G
|
rs771697321
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
NM_000458.4(HNF1B):c.1045+330G>T
|
rs9906451
|
|
NM_000458.4(HNF1B):c.1207-247_1207-246insGG
|
rs10701156
|
|
NM_000458.4(HNF1B):c.1207-7C>T
|
rs1215174368
|
|
NM_000458.4(HNF1B):c.135G>A (p.Thr45=)
|
rs2034121058
|
|
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=)
|
rs773569563
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
NM_000458.4(HNF1B):c.477T>C (p.Pro159=)
|
rs1212716750
|
|
NM_000458.4(HNF1B):c.545-73TCTG[3]
|
rs3216929
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
|
|
|
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
|
|
|
NM_000485.3(APRT):c.*178A>G
|
rs4695
|
|
NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys)
|
|
|
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile)
|
rs2297085
|
|
NM_000507.4(FBP1):c.705+18G>A
|
|
|
NM_000507.4(FBP1):c.826-15G>A
|
rs148942437
|
|
NM_000507.4(FBP1):c.826-22G>A
|
rs28369775
|
|
NM_000512.5(GALNS):c.1139+20del
|
|
|
NM_000512.5(GALNS):c.120+13G>A
|
|
|
NM_000512.5(GALNS):c.121-17C>T
|
|
|
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)
|
rs191519947
|
|
NM_000512.5(GALNS):c.244+14del
|
|
|
NM_000512.5(GALNS):c.633+13G>C
|
rs200292757
|
|
NM_000512.5(GALNS):c.633+9del
|
|
|
NM_000512.5(GALNS):c.759-16del
|
|
|
NM_000525.4(KCNJ11):c.*62G>A
|
rs5213
|
|
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)
|
rs587783666
|
|
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu)
|
rs80356620
|
|
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn)
|
rs80356622
|
|
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)
|
rs587783672
|
|
NM_000528.4(MAN2B1):c.1027-6del
|
rs1384911711
|
|
NM_000528.4(MAN2B1):c.1231-13C>T
|
rs372848519
|
|
NM_000528.4(MAN2B1):c.1528-11del
|
rs2145253449
|
|
NM_000528.4(MAN2B1):c.1645-195C>A
|
|
|
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly)
|
rs370382032
|
|
NM_000528.4(MAN2B1):c.2267+8del
|
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_000528.4(MAN2B1):c.2355+20C>T
|
|
|
NM_000528.4(MAN2B1):c.262+17del
|
|
|
NM_000528.4(MAN2B1):c.2665-165G>C
|
rs2145222928
|
|
NM_000528.4(MAN2B1):c.2665-17del
|
|
|
NM_000528.4(MAN2B1):c.2923+19dup
|
|
|
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)
|
rs1054487
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000545.8(HNF1A):c.1309+184dup
|
rs201039488
|
|
NM_000545.8(HNF1A):c.1309+86TCAT[6]
|
rs58371019
|
|
NM_000545.8(HNF1A):c.1309+86TCAT[8]
|
rs58371019
|
|
NM_000545.8(HNF1A):c.1494C>T (p.Ser498=)
|
rs138145827
|
|
NM_000545.8(HNF1A):c.1623+16G>A
|
rs1555212572
|
|
NM_000545.8(HNF1A):c.1768+11C>T
|
rs886049034
|
|
NM_000545.8(HNF1A):c.1768+65del
|
rs193922590
|
|
NM_000545.8(HNF1A):c.306C>T (p.Ala102=)
|
rs1486966222
|
|
NM_000545.8(HNF1A):c.327-14T>C
|
rs886049033
|
|
NM_000545.8(HNF1A):c.60G>T (p.Gly20=)
|
rs1449504165
|
|
NM_000545.8(HNF1A):c.866C>T (p.Pro289Leu)
|
rs267603343
|
|
NM_000545.8(HNF1A):c.870C>T (p.Pro290=)
|
rs779008957
|
|
NM_000642.3(AGL):c.1082+19dup
|
|
|
NM_000642.3(AGL):c.1283+13del
|
rs2101128921
|
|
NM_000642.3(AGL):c.1283+22dup
|
rs775216906
|
|
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe)
|
rs149771710
|
|
NM_000642.3(AGL):c.1424-9dup
|
|
|
NM_000642.3(AGL):c.1611+11del
|
rs2101137047
|
|
NM_000642.3(AGL):c.294-8dup
|
|
|
NM_000642.3(AGL):c.2950-9del
|
rs2100789612
|
|
NM_000642.3(AGL):c.3084-8del
|
|
|
NM_000642.3(AGL):c.3260-6del
|
rs772280861
|
|
NM_000642.3(AGL):c.3260-6dup
|
rs772280861
|
|
NM_000642.3(AGL):c.4162-11G>A
|
rs184309460
|
|
NM_000642.3(AGL):c.4348-3dup
|
rs886044921
|
|
NM_000642.3(AGL):c.460+24del
|
|
|
NM_000642.3(AGL):c.665-8dup
|
|
|
NM_000642.3(AGL):c.83-7dup
|
|
|
NM_000891.3(KCNJ2):c.*1678dup
|
rs145779709
|
|
NM_000891.3(KCNJ2):c.*640GTT[4]
|
rs397705636
|
|
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=)
|
rs748445140
|
|
NM_000925.4(PDHB):c.*92C>A
|
rs4228
|
|
NM_000925.4(PDHB):c.700+9del
|
|
|
NM_001039770.3(TMPPE):c.-512C>G
|
rs115554377
|
|
NM_001040716.2(PC):c.*106G>T
|
rs45505701
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
NM_001040716.2(PC):c.1368+19del
|
|
|
NM_001040716.2(PC):c.1513+9C>A
|
rs45580638
|
|
NM_001040716.2(PC):c.2224-31TC[8]
|
rs139065746
|
|
NM_001040716.2(PC):c.2224-3del
|
rs1292656088
|
|
NM_001040716.2(PC):c.2592T>C (p.Asn864=)
|
rs375784582
|
|
NM_001040716.2(PC):c.2899-3del
|
rs752139338
|
|
NM_001040716.2(PC):c.322-9dup
|
rs2135941001
|
|
NM_001040716.2(PC):c.3288+14del
|
|
|
NM_001040716.2(PC):c.904-5dup
|
rs2135929887
|
|
NM_001041.4(SI):c.2244+14G>A
|
rs114458546
|
|
NM_001041.4(SI):c.374-11del
|
rs11313475
|
|
NM_001041.4(SI):c.5198-20dup
|
rs566002300
|
|
NM_001041.4(SI):c.567G>A (p.Leu189=)
|
rs76463353
|
|
NM_001041.4(SI):c.636-22_636-19del
|
rs558953371
|
|
NM_001064.4(TKT):c.1265-47G>C
|
rs3736155
|
|
NM_001064.4(TKT):c.1697-49C>T
|
rs3816767
|
|
NM_001136035.4(TRMT1):c.1106+26G>C
|
rs35601737
|
|
NM_001160372.4(TRAPPC9):c.731-31_731-11del
|
rs11267571
|
|
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)
|
rs547488738
|
|
NM_001164277.2(SLC37A4):c.1125-7dup
|
|
|
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)
|
rs886047748
|
|
NM_001164277.2(SLC37A4):c.527= (p.Cys176=)
|
rs56966114
|
|
NM_001164277.2(SLC37A4):c.626+10del
|
|
|
NM_001164277.2(SLC37A4):c.626+16G>A
|
rs74673344
|
|
NM_001352514.2(HLCS):c.*1206C>A
|
rs73902720
|
|
NM_001352514.2(HLCS):c.*2622G>A
|
rs14407
|
|
NM_001352514.2(HLCS):c.*7_*9del
|
rs201681436
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
NM_001352514.2(HLCS):c.1621-13_1621-10del
|
rs377641674
|
|
NM_001352514.2(HLCS):c.1960+117A>T
|
rs2835455
|
|
NM_001352514.2(HLCS):c.2237-7dup
|
|
|
NM_001352514.2(HLCS):c.2450+136C>T
|
rs9977769
|
|
NM_001352514.2(HLCS):c.2451-4del
|
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
NM_001354768.3(NRL):c.-28+11215dup
|
rs61497654
|
|
NM_001358263.1(HK1):c.75+23T>C
|
rs4746837
|
|
NM_001360016.2(G6PD):c.*304T>C
|
|
|
NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr)
|
|
|
NM_001360016.2(G6PD):c.120+199dup
|
rs781893284
|
|
NM_001360016.2(G6PD):c.120+2955A>G
|
|
|
NM_001360016.2(G6PD):c.120+3126T>C
|
|
|
NM_001360016.2(G6PD):c.121-1792T>C
|
|
|
NM_001360016.2(G6PD):c.121-1813del
|
|
|
NM_001360016.2(G6PD):c.121-2107T>C
|
|
|
NM_001360016.2(G6PD):c.121-2679C>G
|
|
|
NM_001360016.2(G6PD):c.121-4460del
|
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)
|
rs2230037
|
|
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=)
|
rs2230037
|
|
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=)
|
rs398123547
|
|
NM_001360016.2(G6PD):c.1422G>A (p.Leu474=)
|
|
|
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
|
|
|
NM_001360016.2(G6PD):c.486-34del
|
rs3216174
|
|
NM_001360016.2(G6PD):c.645-8_645-5del
|
rs782160396
|
|
NM_001360016.2(G6PD):c.[1116G>A;1311=]
|
|
|
NM_001365304.2(LOC112694756):c.*1308+17T>C
|
rs566755208
|
|
NM_001365304.2(LOC112694756):c.*833+17C>G
|
rs78209292
|
|
NM_001366110.1(PAX4):c.*469TATG[3]
|
rs66998513
|
|
NM_001366110.1(PAX4):c.*477_*478insATGT
|
rs200757052
|
|
NM_001366110.1(PAX4):c.13+175G>C
|
rs327516
|
|
NM_001370658.1(BTD):c.-17+13C>G
|
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
NM_001370658.1(BTD):c.400-8dup
|
rs397514361
|
|
NM_001543.5(NDST1):c.1846+23G>C
|
rs2304063
|
|
NM_001543.5(NDST1):c.750A>G (p.Pro250=)
|
rs2273234
|
|
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala)
|
rs567720261
|
|
NM_001715.3(BLK):c.391C>A (p.Arg131=)
|
rs73663163
|
|
NM_001715.3(BLK):c.39G>A (p.Lys13=)
|
rs142129056
|
|
NM_001715.3(BLK):c.772+17G>A
|
|
|
NM_001739.2(CA5A):c.460-14C>A
|
|
|
NM_001807.6(CEL):c.1659C>G (p.Thr553=)
|
rs78256304
|
|
NM_001931.4(DLAT):c.381+22delT
|
rs5794771
|
|
NM_001931.5(DLAT):c.1399-13_1399-11del
|
rs587691611
|
|
NM_001931.5(DLAT):c.1515-13dup
|
|
|
NM_001931.5(DLAT):c.1678-8del
|
rs781833307
|
|
NM_001931.5(DLAT):c.270G>C (p.Pro90=)
|
|
|
NM_001931.5(DLAT):c.279+18dup
|
|
|
NM_002076.4(GNS):c.253-10del
|
rs201654719
|
|
NM_002076.4(GNS):c.526-6del
|
rs2136248435
|
|
NM_002076.4(GNS):c.625-10dup
|
rs2136247672
|
|
NM_002076.4(GNS):c.793-15del
|
rs754323701
|
|
NM_002076.4(GNS):c.793-15dup
|
|
|
NM_002103.5(GYS1):c.1423-10del
|
|
|
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)
|
rs561646250
|
|
NM_002103.5(GYS1):c.1749C>A (p.Ile583=)
|
rs146698792
|
|
NM_002103.5(GYS1):c.1749C>T (p.Ile583=)
|
rs146698792
|
|
NM_002103.5(GYS1):c.941+10dup
|
|
|
NM_002294.3(LAMP2):c.*1243A>G
|
rs147825361
|
|
NM_002294.3(LAMP2):c.*33A>G
|
rs745798436
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
NM_002294.3(LAMP2):c.-4G>C
|
rs200297370
|
|
NM_002294.3(LAMP2):c.1089T>C (p.Ser363=)
|
|
|
NM_002294.3(LAMP2):c.742-16TCT[2]
|
rs730880476
|
|
NM_002294.3(LAMP2):c.742-7_742-5del
|
rs779710402
|
|
NM_002294.3(LAMP2):c.877C>A (p.Arg293=)
|
rs727503118
|
|
NM_002294.3(LAMP2):c.929-9del
|
rs1338648665
|
|
NM_002299.4(LCT):c.318C>T (p.Asp106=)
|
rs34307240
|
|
NM_002299.4(LCT):c.655G>A (p.Val219Ile)
|
rs3754689
|
|
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)
|
rs116321775
|
|
NM_002591.4(PCK1):c.1674C>T (p.Ile558=)
|
rs115841045
|
|
NM_002637.4(PHKA1):c.*1375A>G
|
rs142925152
|
|
NM_002637.4(PHKA1):c.1042-20T>G
|
|
|
NM_002637.4(PHKA1):c.1401G>A (p.Glu467=)
|
rs782491320
|
|
NM_002637.4(PHKA1):c.2365A>G (p.Met789Val)
|
|
|
NM_002637.4(PHKA1):c.2391A>G (p.Glu797=)
|
|
|
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=)
|
rs782602098
|
|
NM_002637.4(PHKA1):c.3244-12del
|
|
|
NM_002637.4(PHKA1):c.3244-12dup
|
|
|
NM_002637.4(PHKA1):c.381T>C (p.Asp127=)
|
|
|
NM_002637.4(PHKA1):c.459C>G (p.Leu153=)
|
|
|
NM_002637.4(PHKA1):c.79-5dup
|
|
|
NM_002863.5(PYGL):c.*11del
|
rs3216001
|
|
NM_002863.5(PYGL):c.-31GCAGCCCGCCGC[1]
|
rs561479231
|
|
NM_002863.5(PYGL):c.1093-16C>A
|
|
|
NM_002863.5(PYGL):c.1828-2del
|
rs11356035
|
|
NM_002863.5(PYGL):c.2178-11del
|
rs1555326336
|
|
NM_002863.5(PYGL):c.2312+12T>C
|
|
|
NM_002863.5(PYGL):c.2380-12T>C
|
|
|
NM_003384.3(VRK1):c.1160-8del
|
rs2139857568
|
|
NM_003384.3(VRK1):c.161-7dup
|
rs1295596727
|
|
NM_003384.3(VRK1):c.374+7dup
|
|
|
NM_003384.3(VRK1):c.375-14A>G
|
|
|
NM_003384.3(VRK1):c.483+20_483+22del
|
rs566207500
|
|
NM_003477.2(PDHX):c.-129_-127delCGG
|
rs371074122
|
|
NM_003597.5(KLF11):c.*1423T>C
|
rs571234569
|
|
NM_003597.5(KLF11):c.*226_*227dup
|
rs34206941
|
|
NM_003597.5(KLF11):c.-95GCC[5]
|
rs372827624
|
|
NM_003754.3(EIF3F):c.*24C>T
|
rs15879
|
|
NM_004130.4(GYG1):c.452A>T (p.His151Leu)
|
rs35054019
|
|
NM_005271.5(GLUD1):c.1198-9C>G
|
rs201421730
|
|
NM_005271.5(GLUD1):c.1198-9C>T
|
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
NM_005271.5(GLUD1):c.1647G>A (p.Val549=)
|
rs756484571
|
|
NM_005271.5(GLUD1):c.582+18A>G
|
|
|
NM_005271.5(GLUD1):c.646+16_646+17del
|
rs201141455
|
|
NM_005271.5(GLUD1):c.647-5C>G
|
rs201611802
|
|
NM_005327.4(HADH):c.-56C>A
|
rs770197760
|
|
NM_005327.7(HADH):c.261+16C>T
|
rs71601073
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
NM_005609.4(PYGM):c.1000-15del
|
|
|
NM_005609.4(PYGM):c.1093-10del
|
|
|
NM_005609.4(PYGM):c.1093-13dup
|
rs1304298343
|
|
NM_005609.4(PYGM):c.1191G>A (p.Leu397=)
|
|
|
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)
|
rs11231866
|
|
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)
|
rs568496266
|
|
NM_005609.4(PYGM):c.1621-19del
|
rs571976523
|
|
NM_005609.4(PYGM):c.1970-17dup
|
|
|
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)
|
rs540487525
|
|
NM_005609.4(PYGM):c.661-5C>G
|
rs75633423
|
|
NM_005609.4(PYGM):c.661-5del
|
rs768761419
|
|
NM_005609.4(PYGM):c.855+13del
|
|
|
NM_005645.4(TAF13):c.-2G>A
|
|
|
NM_005883.3(APC2):c.4384A>C (p.Arg1462=)
|
rs265273
|
|
NM_005908.4(MANBA):c.1318-13del
|
|
|
NM_005908.4(MANBA):c.1485+16del
|
rs2110216761
|
|
NM_005908.4(MANBA):c.1485+9T>C
|
rs199592616
|
|
NM_005908.4(MANBA):c.1704+10C>T
|
|
|
NM_005908.4(MANBA):c.1705-13C>A
|
rs34754408
|
|
NM_005908.4(MANBA):c.1705-13C>T
|
rs34754408
|
|
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)
|
rs2866413
|
|
NM_005908.4(MANBA):c.2416-10del
|
rs5860729
|
|
NM_005908.4(MANBA):c.2416-11_2416-10del
|
rs5860729
|
|
NM_005908.4(MANBA):c.2416-20dup
|
rs5860729
|
|
NM_005908.4(MANBA):c.2473G>T (p.Ala825Ser)
|
rs182869272
|
|
NM_005908.4(MANBA):c.273-3del
|
|
|
NM_005908.4(MANBA):c.273-3dup
|
|
|
NM_006516.4(SLC2A1):c.*462G>C
|
rs4658
|
|
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)
|
rs2229681
|
|
NM_006516.4(SLC2A1):c.1278+12del
|
rs368437445
|
|
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT
|
rs2124446051
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)
|
rs2229682
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.679+7G>T
|
rs13306757
|
|
NM_006618.5(KDM5B):c.2198+25dup
|
rs3216061
|
|
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=)
|
rs1141109
|
|
NM_006721.4(ADK):c.727-8del
|
rs112610475
|
|
NM_006765.4(TUSC3):c.309-15C>G
|
|
|
NM_006765.4(TUSC3):c.87C>T (p.Leu29=)
|
rs78626330
|
|
NM_012203.1(GRHPR):c.866-25CT[9]
|
rs34302950
|
|
NM_012203.2(GRHPR):c.83+52del
|
rs35891798
|
|
NM_012203.2(GRHPR):c.871C>T (p.Leu291=)
|
rs1135283
|
|
NM_012434.5(SLC17A5):c.*764G>A
|
rs139964473
|
|
NM_012434.5(SLC17A5):c.1351-15del
|
rs1341837566
|
|
NM_012434.5(SLC17A5):c.1351-15dup
|
|
|
NM_012434.5(SLC17A5):c.291+16dup
|
|
|
NM_012434.5(SLC17A5):c.525+36G>C
|
rs12192476
|
|
NM_012434.5(SLC17A5):c.94+13del
|
|
|
NM_012434.5(SLC17A5):c.95-19del
|
|
|
NM_012434.5(SLC17A5):c.978+11dup
|
rs2150099214
|
|
NM_014026.6(DCPS):c.219GGATGG[3] (p.Gly77_Glu78insAspGly)
|
|
|
NM_015957.4(APIP):c.-53C>T
|
rs2956113
|
|
NM_015957.4(APIP):c.57+78A>G
|
rs2016814
|
|
NM_015981.4(CAMK2A):c.1467-87A>T
|
rs17712679
|
|
NM_016042.4(EXOSC3):c.*118G>T
|
rs1059059
|
|
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
|
|
|
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
|
|
|
NM_016203.4(PRKAG2):c.1006-9del
|
rs775574266
|
|
NM_016203.4(PRKAG2):c.1006-9dup
|
rs775574266
|
|
NM_016203.4(PRKAG2):c.1106+10dup
|
rs374874465
|
|
NM_016203.4(PRKAG2):c.1106+19del
|
rs374874465
|
|
NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)
|
|
|
NM_016203.4(PRKAG2):c.754+13dup
|
rs747490039
|
|
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=)
|
rs61752000
|
|
NM_016219.5(MAN1B1):c.1255-13del
|
|
|
NM_016219.5(MAN1B1):c.1567-18G>A
|
|
|
NM_016219.5(MAN1B1):c.31G>A (p.Ala11Thr)
|
|
|
NM_016219.5(MAN1B1):c.620+10G>A
|
|
|
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln)
|
rs61744358
|
|
NM_018444.3(PDP1):c.-273T>A
|
rs4469422
|
|
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del)
|
rs71929261
|
|
NM_020066.5(FMN2):c.162del (p.Gly55fs)
|
rs1572736047
|
|
NM_021957.4(GYS2):c.*290G>T
|
rs17849015
|
|
NM_021957.4(GYS2):c.1230-14dup
|
rs752714629
|
|
NM_021957.4(GYS2):c.1890+25del
|
rs36023861
|
|
NM_021957.4(GYS2):c.496-11dup
|
|
|
NM_021957.4(GYS2):c.574C>A (p.Arg192=)
|
|
|
NM_022895.3(C12orf43):c.*1890C>T
|
rs886049035
|
|
NM_022895.3(C12orf43):c.*2372G>A
|
rs55962050
|
|
NM_022895.3(C12orf43):c.*2626G>A
|
rs1877483762
|
|
NM_022895.3(C12orf43):c.*2694A>C
|
rs571084139
|
|
NM_022895.3(C12orf43):c.*2765C>T
|
rs1877471070
|
|
NM_022895.3(C12orf43):c.*2768G>A
|
rs972789249
|
|
NM_022895.3(C12orf43):c.*2922C>A
|
rs758414199
|
|
NM_024824.5(ZC3H14):c.1354+15A>G
|
rs2297124
|
|
NM_024824.5(ZC3H14):c.2204+17_2204+41del
|
rs571303442
|
|
NM_024989.4(PGAP1):c.1273-17dup
|
rs3835877
|
|
NM_024989.4(PGAP1):c.1273-8del
|
rs3835877
|
|
NM_024989.4(PGAP1):c.1553-15dup
|
|
|
NM_024989.4(PGAP1):c.2338-19C>T
|
|
|
NM_024989.4(PGAP1):c.807+13del
|
|
|
NM_024989.4(PGAP1):c.861-14_861-11del
|
rs751306632
|
|
NM_024989.4(PGAP1):c.927+12dup
|
rs1162737906
|
|
NM_031229.4(RBCK1):c.1209+24del
|
|
|
NM_031229.4(RBCK1):c.282C>T (p.Phe94=)
|
rs753580979
|
|
NM_031229.4(RBCK1):c.583-17G>C
|
|
|
NM_031229.4(RBCK1):c.917+11dup
|
|
|
NM_031466.8(TRAPPC9):c.-129_-109dup
|
rs367682297
|
|
NM_053013.4(ENO3):c.667+24dup
|
rs754023017
|
|
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup)
|
rs548538086
|
|
NM_053013.4(ENO3):c.789G>A (p.Ser263=)
|
rs75748087
|
|
NM_053013.4(ENO3):c.789G>C (p.Ser263=)
|
rs75748087
|
|
NM_053013.4(ENO3):c.86-3del
|
rs151153333
|
|
NM_138413.4(HOGA1):c.*560T>C
|
rs1977641
|
|
NM_138413.4(HOGA1):c.*637G>A
|
rs1977640
|
|
NM_138775.3(ALKBH8):c.772-72_772-71del
|
rs5794554
|
|
NM_144563.3(RPIA):c.633G>A (p.Lys211=)
|
rs72930711
|
|
NM_152419.3(HGSNAT):c.*1086G>C
|
rs145370743
|
|
NM_152419.3(HGSNAT):c.*1942A>G
|
rs112626858
|
|
NM_152419.3(HGSNAT):c.*2755C>T
|
rs76686222
|
|
NM_152419.3(HGSNAT):c.*600C>T
|
rs377372501
|
|
NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)
|
|
|
NM_152419.3(HGSNAT):c.1129-7dup
|
|
|
NM_152419.3(HGSNAT):c.1250+19dup
|
|
|
NM_152419.3(HGSNAT):c.1251-12del
|
|
|
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=)
|
rs199816365
|
|
NM_152419.3(HGSNAT):c.564-4dup
|
rs748560542
|
|
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
|
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_175914.5(HNF4A):c.*1106G>A
|
rs753675648
|
|
NM_175914.5(HNF4A):c.*145T>A
|
rs200905283
|
|
NM_175914.5(HNF4A):c.*1809C>G
|
rs2063876979
|
|
NM_175914.5(HNF4A):c.*1826G>A
|
rs1763003018
|
|
NM_175914.5(HNF4A):c.*2167T>G
|
rs886056687
|
|
NM_175914.5(HNF4A):c.*2256C>G
|
rs537829031
|
|
NM_175914.5(HNF4A):c.*2600T>C
|
rs886056689
|
|
NM_175914.5(HNF4A):c.*2761G>T
|
rs1212257046
|
|
NM_175914.5(HNF4A):c.*2782A>C
|
rs1192263020
|
|
NM_175914.5(HNF4A):c.*2796AC[1]
|
rs548863430
|
|
NM_175914.5(HNF4A):c.*3024C>T
|
rs886056702
|
|
NM_175914.5(HNF4A):c.*3052G>A
|
rs546761850
|
|
NM_175914.5(HNF4A):c.*657G>A
|
rs3212209
|
|
NM_175914.5(HNF4A):c.*76G>T
|
rs11574743
|
|
NM_175914.5(HNF4A):c.*906A>C
|
rs3212210
|
|
NM_175914.5(HNF4A):c.*906A>T
|
rs3212210
|
|
NM_175914.5(HNF4A):c.*965G>T
|
rs886056683
|
|
NM_175914.5(HNF4A):c.*987G>T
|
rs886056684
|
|
NM_175914.5(HNF4A):c.224+288G>C
|
rs3212184
|
|
NM_175914.5(HNF4A):c.426+7G>C
|
rs1600723028
|
|
NM_175914.5(HNF4A):c.50-4791_50-4788del
|
rs886056679
|
|
NM_175914.5(HNF4A):c.670+18C>A
|
rs751211080
|
|
NM_175914.5(HNF4A):c.826+169A>G
|
rs3212201
|
|
NM_198586.3(NHLRC1):c.*482C>G
|
rs114713758
|
|
NM_198586.3(NHLRC1):c.*55G>C
|
rs11966789
|
|