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_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_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_015981.4(CAMK2A):c.1410T>C (p.Asp470=)
|
rs2241694
|
0.94205
|
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_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_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_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_014026.6(DCPS):c.315G>A (p.Gln105=)
|
rs637462
|
0.87290
|
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys)
|
rs4760682
|
0.86945
|
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_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_016219.5(MAN1B1):c.2046T>C (p.Asp682=)
|
rs4880091
|
0.80826
|
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_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_000545.8(HNF1A):c.1623+29T>C
|
rs1169304
|
0.75160
|
NM_000263.4(NAGLU):c.531+50G>C
|
rs2071046
|
0.74899
|
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_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_152419.3(HGSNAT):c.371+82C>T
|
rs10958738
|
0.72852
|
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_000152.5(GAA):c.2040+20A>G
|
rs2304836
|
0.72004
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
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_005609.4(PYGM):c.660+35G>A
|
rs589691
|
0.68983
|
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_001543.5(NDST1):c.1097-28T>C
|
rs2545341
|
0.67102
|
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.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_000108.5(DLD):c.199-108T>C
|
rs10250718
|
0.66040
|
NM_001008216.2(GALE):c.873+13G>A
|
rs760941
|
0.65959
|
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.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_005566.4(LDHA):c.483C>T (p.Ser161=)
|
rs4687
|
0.64502
|
NM_005566.4(LDHA):c.519A>G (p.Leu173=)
|
rs4820
|
0.64482
|
NM_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
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_000027.4(AGA):c.127+25C>T
|
rs11131799
|
0.60222
|
NM_006279.5(ST3GAL3):c.1039-18C>T
|
rs2108202
|
0.59490
|
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_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_001041.4(SI):c.1146+13A>C
|
rs9290259
|
0.57783
|
NM_001160372.4(TRAPPC9):c.2557-13T>A
|
rs9792174
|
0.57247
|
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.2015-28G>A
|
rs4547797
|
0.55331
|
NM_005908.4(MANBA):c.2368T>C (p.Leu790=)
|
rs2272697
|
0.55313
|
NM_001352514.2(HLCS):c.1438-36G>A
|
rs2073425
|
0.55169
|
NM_000199.5(SGSH):c.250-26C>T
|
rs4889839
|
0.54568
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
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_138775.3(ALKBH8):c.878+31T>A
|
rs589788
|
0.52394
|
NM_001365304.2(LOC112694756):c.*489-63G>C
|
rs9783783
|
0.52268
|
NM_000181.4(GUSB):c.1065+27C>G
|
rs781143
|
0.52153
|
NM_000507.4(FBP1):c.*21C>T
|
rs9695
|
0.51483
|
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)
|
rs627441
|
0.51169
|
NM_000507.4(FBP1):c.705+14C>T
|
rs2297084
|
0.51109
|
NM_000642.3(AGL):c.2001+8T>C
|
rs3736296
|
0.51012
|
NM_000528.4(MAN2B1):c.1310-22C>T
|
rs73002392
|
0.50963
|
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro)
|
rs9530
|
0.50676
|
NM_015028.4(TNIK):c.744C>T (p.Asn248=)
|
rs12637875
|
0.50558
|
NM_001715.3(BLK):c.330T>C (p.Ser110=)
|
rs3816668
|
0.49161
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
NM_000642.3(AGL):c.2950-21T>A
|
rs2035961
|
0.48240
|
NM_000343.4(SLC5A1):c.1129+7T>G
|
rs5998233
|
0.47147
|
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_015981.4(CAMK2A):c.1238-44G>A
|
rs2241695
|
0.46240
|
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)
|
rs3735803
|
0.45974
|
NM_138775.3(ALKBH8):c.1288-3C>T
|
rs654093
|
0.45699
|
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly)
|
rs12732924
|
0.45161
|
NM_031229.4(RBCK1):c.22+33C>T
|
rs3746792
|
0.44804
|
NM_153747.2(PIGC):c.796C>T (p.Pro266Ser)
|
rs1063412
|
0.44041
|
NM_002591.4(PCK1):c.69A>G (p.Leu23=)
|
rs1042521
|
0.43803
|
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_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_000528.4(MAN2B1):c.910-73A>G
|
rs2303731
|
0.40412
|
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_020066.5(FMN2):c.1413C>A (p.Ala471=)
|
rs10926124
|
0.38564
|
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)
|
rs5398
|
0.38373
|
NM_001064.4(TKT):c.748+17C>T
|
rs2242301
|
0.37137
|
NM_000188.3(HK1):c.78C>G (p.Leu26=)
|
rs1133189
|
0.36523
|
NM_014415.4(ZBTB11):c.1624-4C>T
|
rs11712748
|
0.36125
|
NM_000030.3(AGXT):c.595+100G>A
|
rs12997245
|
0.35955
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)
|
rs10949483
|
0.35277
|
NM_015981.4(CAMK2A):c.1467-4A>G
|
rs55976097
|
0.35152
|
NM_020066.5(FMN2):c.2517C>G (p.Thr839=)
|
rs10926166
|
0.34857
|
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
|
rs1133330
|
0.34583
|
NM_000308.4(CTSA):c.1359+35G>A
|
rs7270170
|
0.34309
|
NM_138413.4(HOGA1):c.835-120A>G
|
rs1124116
|
0.34185
|
NM_003384.3(VRK1):c.217-244T>C
|
rs12586511
|
0.34167
|
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_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_000642.3(AGL):c.*272G>T
|
rs1804808
|
0.31955
|
NM_000507.4(FBP1):c.426+7C>T
|
rs8192689
|
0.31642
|
NM_000108.5(DLD):c.*18A>T
|
rs8721
|
0.31455
|
NM_000108.5(DLD):c.438+83G>A
|
rs17412104
|
0.31437
|
NM_000199.5(SGSH):c.664-36T>C
|
rs35087113
|
0.31148
|
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_000545.8(HNF1A):c.1501+7G>A
|
rs2464195
|
0.30441
|
NM_006859.4(LIAS):c.884-14T>A
|
rs2125314
|
0.30396
|
NM_000925.4(PDHB):c.267+42G>A
|
rs62259772
|
0.30062
|
NM_000925.4(PDHB):c.438G>A (p.Gly146=)
|
rs1126551
|
0.30058
|
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_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_002103.5(GYS1):c.1026C>T (p.Phe342=)
|
rs5464
|
0.28606
|
NM_000289.6(PFKM):c.2334T>G (p.Ala778=)
|
rs8716
|
0.28514
|
NM_012203.2(GRHPR):c.-92C>T
|
rs4878690
|
0.27923
|
NM_001160372.4(TRAPPC9):c.1134+21A>G
|
rs3779658
|
0.27421
|
NM_000291.4(PGK1):c.522-24C>T
|
rs2007039
|
0.26980
|
NM_003051.4(SLC16A1):c.362-21A>C
|
rs201021807
|
0.26702
|
NM_000545.8(HNF1A):c.527-23C>T
|
rs1169301
|
0.26300
|
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_016219.5(MAN1B1):c.1765-5C>A
|
rs12115325
|
0.25976
|
NM_000035.4(ALDOB):c.540+84A>C
|
rs1929480
|
0.25349
|
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_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_006516.4(SLC2A1):c.-197A>C
|
rs11537640
|
0.23186
|
NM_006516.2(SLC2A1):c.-390delA
|
rs28365848
|
0.23160
|
NM_015028.4(TNIK):c.2316C>T (p.Leu772=)
|
rs2291900
|
0.22910
|
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)
|
rs12549048
|
0.22639
|
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_000203.5(IDUA):c.1525-38T>C
|
rs1131853
|
0.21794
|
NM_001166686.2(PFKM):c.5A>T (p.His2Leu)
|
rs11609399
|
0.21767
|
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)
|
rs1385129
|
0.21537
|
NM_000262.3(NAGA):c.598-15C>T
|
rs2854827
|
0.21339
|
NM_002863.5(PYGL):c.2016C>T (p.Thr672=)
|
rs15669
|
0.21064
|
NM_000512.5(GALNS):c.634-19G>A
|
rs12934499
|
0.20916
|
NM_005609.4(PYGM):c.243+48A>G
|
rs477549
|
0.20413
|
NM_000152.5(GAA):c.1581G>A (p.Arg527=)
|
rs1042396
|
0.20175
|
NM_138413.4(HOGA1):c.212-21A>G
|
rs11817730
|
0.19877
|
NM_000512.5(GALNS):c.1483-32G>C
|
rs11076716
|
0.19802
|
NM_014026.6(DCPS):c.189C>T (p.Phe63=)
|
rs695029
|
0.19665
|
NM_000027.4(AGA):c.281+13T>G
|
rs34241758
|
0.19395
|
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met)
|
rs2305777
|
0.19038
|
NM_006859.4(LIAS):c.45+15G>A
|
rs2687959
|
0.18886
|
NM_002299.4(LCT):c.5111+23C>T
|
rs3213890
|
0.18490
|
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_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.942G>C (p.Ala314=)
|
rs6830825
|
0.16834
|
NM_012434.5(SLC17A5):c.819+52G>A
|
rs520589
|
0.16798
|
NM_012434.5(SLC17A5):c.819+79T>G
|
rs558839
|
0.16769
|
NM_000154.2(GALK1):c.1108-40C>T
|
rs743554
|
0.16712
|
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_002863.5(PYGL):c.1020C>T (p.Asp340=)
|
rs2075643
|
0.16448
|
NM_138413.4(HOGA1):c.700+67G>A
|
rs2297643
|
0.16278
|
NM_001739.2(CA5A):c.453C>T (p.Pro151=)
|
rs7186698
|
0.16216
|
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_000030.3(AGXT):c.942+127C>T
|
rs111576306
|
0.15015
|
NM_000030.3(AGXT):c.680+17C>T
|
rs11693280
|
0.14843
|
NM_000030.3(AGXT):c.358+13C>T
|
rs34995778
|
0.14826
|
NM_006516.2(SLC2A1):c.-490G>C
|
rs3754226
|
0.14227
|
NM_000152.5(GAA):c.2331+24T>C
|
rs2304831
|
0.13841
|
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser)
|
rs3753494
|
0.13698
|
NM_000512.5(GALNS):c.244+19C>T
|
rs35137494
|
0.13406
|
NM_138801.3(GALM):c.568A>T (p.Asn190Tyr)
|
rs6741892
|
0.13096
|
NM_005566.4(LDHA):c.348C>A (p.Ile116=)
|
rs6498
|
0.12798
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
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_000199.5(SGSH):c.89-45G>A
|
rs9900509
|
0.11554
|
NM_000152.5(GAA):c.921A>T (p.Ala307=)
|
rs1800303
|
0.11304
|
NM_000199.5(SGSH):c.89-39G>A
|
rs9900502
|
0.11282
|
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_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
NM_005609.4(PYGM):c.1827+7A>G
|
rs532747
|
0.10554
|
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=)
|
rs1061361
|
0.10447
|
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_015028.4(TNIK):c.2682C>T (p.Ser894=)
|
rs16855789
|
0.09929
|
NM_000152.5(GAA):c.693-49C>T
|
rs78855075
|
0.09045
|
NM_005609.4(PYGM):c.1768+51C>T
|
rs686171
|
0.08974
|
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)
|
rs35836657
|
0.08930
|
NM_000512.5(GALNS):c.634-20C>T
|
rs17603837
|
0.08794
|
NM_003384.3(VRK1):c.1159+43C>G
|
rs45457797
|
0.08564
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
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_006516.4(SLC2A1):c.966C>T (p.Val322=)
|
rs2229680
|
0.06553
|
NM_000152.5(GAA):c.2040+66C>T
|
rs2304835
|
0.06422
|
NM_000152.5(GAA):c.1754+12G>A
|
rs2304840
|
0.06396
|
NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr)
|
rs17857452
|
0.06173
|
NM_000152.5(GAA):c.2040+69A>G
|
rs2304834
|
0.06120
|
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)
|
rs1800314
|
0.05752
|
NM_000152.5(GAA):c.1636+43G>T
|
rs2304842
|
0.05728
|
NM_016302.4(CRBN):c.735T>C (p.Tyr245=)
|
rs17027638
|
0.05605
|
NM_012434.5(SLC17A5):c.979-33G>A
|
rs12199937
|
0.05489
|
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_000642.3(AGL):c.3700+32T>C
|
rs834575
|
0.05338
|
NM_000152.5(GAA):c.1888+21G>A
|
rs2304837
|
0.05276
|
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser)
|
rs2303269
|
0.05170
|
NM_000512.5(GALNS):c.244+49C>T
|
rs13334220
|
0.05168
|
NM_000512.5(GALNS):c.898+42G>C
|
rs76095307
|
0.05085
|
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=)
|
rs71646895
|
0.04951
|
NM_000512.5(GALNS):c.758+22C>T
|
rs78317153
|
0.04917
|
NM_000203.5(IDUA):c.891C>T (p.Asn297=)
|
rs114806891
|
0.04874
|
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_000512.5(GALNS):c.898+25C>G
|
rs113936280
|
0.04554
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
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_033159.4(HYAL1):c.766G>A (p.Gly256Arg)
|
rs116482870
|
0.04448
|
NM_000642.3(AGL):c.686A>G (p.Gln229Arg)
|
rs17121403
|
0.04398
|
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly)
|
rs34745339
|
0.04350
|
NM_000152.5(GAA):c.1754+104C>G
|
rs2304839
|
0.04194
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_000152.5(GAA):c.2189+95C>T
|
rs72850840
|
0.04030
|
NM_000512.5(GALNS):c.846C>T (p.Phe282=)
|
rs35232749
|
0.03726
|
NM_000512.5(GALNS):c.510T>C (p.Tyr170=)
|
rs3743544
|
0.03694
|
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val)
|
rs114703967
|
0.03559
|
NM_000199.5(SGSH):c.664-50G>A
|
rs117217614
|
0.03422
|
NM_001040716.2(PC):c.2224-9T>G
|
rs45560936
|
0.03311
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_002299.4(LCT):c.4977-26T>C
|
rs3213891
|
0.03191
|
NM_138413.4(HOGA1):c.396G>A (p.Ala132=)
|
rs41290456
|
0.02716
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile)
|
rs58786455
|
0.02463
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_002863.5(PYGL):c.772+16G>T
|
rs17123173
|
0.02096
|
NM_001352514.2(HLCS):c.*40A>G
|
rs77014096
|
0.02028
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
NM_000512.5(GALNS):c.318C>T (p.Asn106=)
|
rs34278797
|
0.01971
|
NM_000642.3(AGL):c.3588+36T>G
|
rs548255
|
0.01966
|
NM_000154.2(GALK1):c.611+34G>A
|
rs76743658
|
0.01955
|
NM_000642.3(AGL):c.1185+15T>C
|
rs17121466
|
0.01894
|
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
|
rs28730701
|
0.01764
|
NM_000512.5(GALNS):c.240G>A (p.Ser80=)
|
rs11865929
|
0.01724
|
NM_006516.4(SLC2A1):c.-190G>C
|
rs114514007
|
0.01675
|
NM_000512.5(GALNS):c.566+10C>T
|
rs77514811
|
0.01544
|
NM_000642.3(AGL):c.207T>C (p.Asn69=)
|
rs2230305
|
0.01529
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_000642.3(AGL):c.82+1565T>G
|
rs145049634
|
0.01521
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys)
|
rs34714252
|
0.01465
|
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln)
|
rs17121464
|
0.01447
|
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile)
|
rs34297805
|
0.01381
|
NM_000642.3(AGL):c.3849T>C (p.Ala1283=)
|
rs28730706
|
0.01312
|
NM_001164277.2(SLC37A4):c.626+14C>T
|
rs56394886
|
0.01293
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
NM_000642.3(AGL):c.3260-19G>A
|
rs140333425
|
0.01279
|
NM_000642.3(AGL):c.1612-24C>A
|
rs115666491
|
0.01263
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
NM_006516.4(SLC2A1):c.19-207T>C
|
rs41310434
|
0.01173
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_000512.5(GALNS):c.1278G>T (p.Gly426=)
|
rs76651187
|
0.01075
|
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_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_006516.4(SLC2A1):c.973-17A>G
|
rs111596088
|
0.01025
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
NM_000512.5(GALNS):c.-68C>T
|
rs144789309
|
0.01019
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
NM_000512.5(GALNS):c.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
NM_000512.5(GALNS):c.899-4C>G
|
rs143793386
|
0.00779
|
NM_000642.3(AGL):c.2802A>C (p.Ala934=)
|
rs34230588
|
0.00775
|
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)
|
rs61730035
|
0.00758
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)
|
rs61757217
|
0.00689
|
NM_000512.5(GALNS):c.1003-42C>T
|
rs139088253
|
0.00674
|
NM_000199.5(SGSH):c.522C>T (p.Tyr174=)
|
rs147064455
|
0.00647
|
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_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
NM_000199.5(SGSH):c.675C>T (p.Phe225=)
|
rs34520362
|
0.00580
|
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_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
NM_000642.3(AGL):c.3758G>A (p.Arg1253His)
|
rs12043139
|
0.00515
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)
|
rs112454391
|
0.00404
|
NM_000642.3(AGL):c.3384G>A (p.Ala1128=)
|
rs149393587
|
0.00383
|
NM_000642.3(AGL):c.2883A>G (p.Arg961=)
|
rs113625417
|
0.00375
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly)
|
rs113641837
|
0.00359
|
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)
|
rs147536058
|
0.00336
|
NM_000642.3(AGL):c.3260-20T>C
|
rs17121560
|
0.00332
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)
|
rs202209699
|
0.00273
|
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)
|
rs75485205
|
0.00267
|
NM_000642.3(AGL):c.*832G>A
|
rs181486858
|
0.00261
|
NM_000158.4(GBE1):c.405C>T (p.Leu135=)
|
rs139882066
|
0.00259
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_000199.5(SGSH):c.411G>A (p.Ala137=)
|
rs142557761
|
0.00230
|
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)
|
rs117880912
|
0.00217
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_000642.3(AGL):c.2546+10T>C
|
rs74551473
|
0.00212
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys)
|
rs147165298
|
0.00193
|
NM_000642.2(AGL):c.-208C>T
|
rs563389574
|
0.00192
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)
|
rs144862290
|
0.00186
|
NM_000202.8(IDS):c.418+12T>C
|
rs470986
|
0.00178
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser)
|
rs138134718
|
0.00159
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
NM_000642.3(AGL):c.3792A>T (p.Gly1264=)
|
rs148606237
|
0.00151
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_000642.3(AGL):c.1810T>G (p.Phe604Val)
|
rs138105395
|
0.00125
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
NM_000035.4(ALDOB):c.*12C>T
|
rs201867948
|
0.00118
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000512.5(GALNS):c.566+5T>C
|
rs3743545
|
0.00118
|
NM_000642.3(AGL):c.2949+20C>T
|
rs201729914
|
0.00114
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000642.3(AGL):c.*1766G>A
|
rs564167641
|
0.00110
|
NM_000642.3(AGL):c.*604A>G
|
rs189939228
|
0.00106
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)
|
rs115541691
|
0.00102
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
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_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
|
rs142599919
|
0.00096
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
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_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
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_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)
|
rs13306758
|
0.00070
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
NM_006516.4(SLC2A1):c.275+17C>T
|
rs761669510
|
0.00061
|
NM_000642.2(AGL):c.-134C>G
|
rs548243205
|
0.00057
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
NM_000642.3(AGL):c.3084-8T>C
|
rs186402161
|
0.00056
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
NM_000642.3(AGL):c.*595A>G
|
rs763929813
|
0.00051
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
NM_000642.3(AGL):c.3822C>T (p.Ile1274=)
|
rs143885684
|
0.00049
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=)
|
rs150384629
|
0.00047
|
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)
|
rs3739721
|
0.00046
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
NM_000642.3(AGL):c.*564T>C
|
rs552782825
|
0.00045
|
NM_000642.3(AGL):c.39C>T (p.Asn13=)
|
rs138203039
|
0.00045
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
|
rs139041112
|
0.00044
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)
|
rs148981763
|
0.00039
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)
|
rs140060360
|
0.00037
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)
|
rs529571746
|
0.00035
|
NM_000642.3(AGL):c.2088C>T (p.Ser696=)
|
rs144491501
|
0.00034
|
NM_000642.3(AGL):c.3589-19C>T
|
rs368244330
|
0.00034
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)
|
rs200632199
|
0.00032
|
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)
|
rs200033151
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys)
|
rs142702682
|
0.00030
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000512.5(GALNS):c.1482+4A>G
|
rs377407678
|
0.00026
|
NM_000642.3(AGL):c.854G>A (p.Arg285Gln)
|
rs144817648
|
0.00026
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
0.00026
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_000642.3(AGL):c.2219A>G (p.His740Arg)
|
rs562215810
|
0.00025
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
0.00024
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000199.5(SGSH):c.676G>A (p.Val226Ile)
|
rs145967352
|
0.00022
|
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg)
|
rs200459772
|
0.00022
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
NM_000642.3(AGL):c.622T>C (p.Trp208Arg)
|
rs202084554
|
0.00021
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)
|
rs202150579
|
0.00020
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000152.5(GAA):c.913G>A (p.Gly305Arg)
|
rs200154987
|
0.00019
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000642.3(AGL):c.*2160C>T
|
rs753401733
|
0.00019
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)
|
rs140481863
|
0.00017
|
NM_006516.4(SLC2A1):c.972+17T>A
|
rs202140308
|
0.00017
|
NM_000046.5(ARSB):c.-15C>T
|
rs779990830
|
0.00016
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
NM_000642.3(AGL):c.3700+14A>G
|
rs368141566
|
0.00016
|
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg)
|
rs41285740
|
0.00016
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
NM_006516.4(SLC2A1):c.276-11C>T
|
rs376422395
|
0.00016
|
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=)
|
rs144685583
|
0.00016
|
NM_000199.5(SGSH):c.276C>G (p.His92Gln)
|
rs201478799
|
0.00015
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)
|
rs149486847
|
0.00014
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
NM_000199.4(SGSH):c.-23C>T
|
rs533566888
|
0.00014
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser)
|
rs139950099
|
0.00014
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys)
|
rs112795811
|
0.00014
|
NM_000642.3(AGL):c.4076G>A (p.Arg1359His)
|
rs201533636
|
0.00014
|
NM_000642.3(AGL):c.846+14G>A
|
rs376827010
|
0.00014
|
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His)
|
rs149998596
|
0.00014
|
NM_000152.5(GAA):c.546+3G>A
|
rs371405931
|
0.00013
|
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu)
|
rs766513928
|
0.00013
|
NM_006516.4(SLC2A1):c.517-18G>A
|
rs372553463
|
0.00013
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)
|
rs150284874
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln)
|
rs140376273
|
0.00011
|
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp)
|
rs536478616
|
0.00011
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
NM_000642.3(AGL):c.341G>A (p.Arg114His)
|
rs150146360
|
0.00011
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr)
|
rs374651629
|
0.00011
|
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu)
|
rs372851103
|
0.00011
|
NM_000027.4(AGA):c.109A>G (p.Lys37Glu)
|
rs766776902
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)
|
rs550065979
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2122C>T (p.His708Tyr)
|
rs149916476
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
NM_000199.5(SGSH):c.250-15C>T
|
rs369082713
|
0.00010
|
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser)
|
rs773480617
|
0.00010
|
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
|
rs151243903
|
0.00010
|
NM_000642.3(AGL):c.*1224C>T
|
rs12563807
|
0.00010
|
NM_000642.3(AGL):c.*1691A>G
|
rs886044933
|
0.00010
|
NM_000642.3(AGL):c.1284-4A>G
|
rs372612377
|
0.00010
|
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg)
|
rs148930543
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_002076.4(GNS):c.49C>T (p.Arg17Cys)
|
rs574024349
|
0.00010
|
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)
|
rs200481790
|
0.00010
|
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)
|
rs139230055
|
0.00010
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
NM_000152.5(GAA):c.297C>T (p.Thr99=)
|
rs771846178
|
0.00009
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)
|
rs751604358
|
0.00009
|
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)
|
rs377605690
|
0.00009
|
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
|
rs142729872
|
0.00009
|
NM_000202.8(IDS):c.1227G>A (p.Thr409=)
|
rs201905166
|
0.00009
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
0.00009
|
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)
|
rs779769525
|
0.00009
|
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)
|
rs3745649
|
0.00009
|
NM_000642.3(AGL):c.1602C>T (p.His534=)
|
rs563472929
|
0.00009
|
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala)
|
rs761479006
|
0.00009
|
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp)
|
rs370797337
|
0.00009
|
NM_000642.3(AGL):c.3696C>T (p.Asp1232=)
|
rs143076729
|
0.00009
|
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr)
|
rs760699630
|
0.00009
|
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly)
|
rs761264157
|
0.00009
|
NM_006516.4(SLC2A1):c.-26G>C
|
rs375001117
|
0.00009
|
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=)
|
rs137868589
|
0.00009
|
NM_006516.4(SLC2A1):c.18+14C>T
|
rs970369883
|
0.00009
|
NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser)
|
rs747385791
|
0.00009
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000202.8(IDS):c.1144G>C (p.Asp382His)
|
rs370125505
|
0.00008
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)
|
rs558217174
|
0.00008
|
NM_000642.3(AGL):c.1423+3A>G
|
rs766117687
|
0.00008
|
NM_000642.3(AGL):c.3116A>T (p.His1039Leu)
|
rs1430797073
|
0.00008
|
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00008
|
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys)
|
rs375254875
|
0.00008
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000158.4(GBE1):c.467G>A (p.Arg156His)
|
rs374404487
|
0.00007
|
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)
|
rs149248428
|
0.00007
|
NM_000528.4(MAN2B1):c.2046+2T>A
|
rs748712495
|
0.00007
|
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys)
|
rs199660743
|
0.00007
|
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)
|
rs202046937
|
0.00007
|
NM_000642.3(AGL):c.4164C>G (p.Ala1388=)
|
rs142809832
|
0.00007
|
NM_000642.3(AGL):c.846+8T>A
|
rs372517543
|
0.00007
|
NM_000925.4(PDHB):c.-4C>T
|
rs778465584
|
0.00007
|
NM_006516.4(SLC2A1):c.*560T>C
|
rs545613558
|
0.00007
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu)
|
rs756126944
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro)
|
rs761908536
|
0.00006
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val)
|
rs76375023
|
0.00006
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys)
|
rs145645179
|
0.00006
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)
|
rs371459975
|
0.00006
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
NM_000512.5(GALNS):c.921G>T (p.Leu307=)
|
rs201986622
|
0.00006
|
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)
|
rs762152042
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
NM_000642.3(AGL):c.*1075T>A
|
rs886044931
|
0.00006
|
NM_000642.3(AGL):c.103T>C (p.Leu35=)
|
rs370307706
|
0.00006
|
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser)
|
rs909008103
|
0.00006
|
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser)
|
rs180768312
|
0.00006
|
NM_000642.3(AGL):c.188G>A (p.Arg63His)
|
rs199958942
|
0.00006
|
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)
|
rs576969969
|
0.00006
|
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg)
|
rs773044002
|
0.00006
|
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg)
|
rs149914040
|
0.00006
|
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser)
|
rs199554089
|
0.00006
|
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)
|
rs113994130
|
0.00006
|
NM_000642.3(AGL):c.2607A>G (p.Gln869=)
|
rs747817359
|
0.00006
|
NM_000642.3(AGL):c.293+3A>G
|
rs375459662
|
0.00006
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly)
|
rs774708890
|
0.00006
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
NM_000642.3(AGL):c.847-7T>A
|
rs750785301
|
0.00006
|
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=)
|
rs763664146
|
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_006516.4(SLC2A1):c.343C>T (p.Leu115=)
|
rs539490455
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)
|
rs202134230
|
0.00005
|
NM_000046.5(ARSB):c.658A>G (p.Ile220Val)
|
rs202130413
|
0.00005
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr)
|
rs367632754
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys)
|
rs368650877
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
|
rs148544344
|
0.00005
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
NM_000642.3(AGL):c.1065G>A (p.Thr355=)
|
rs764914308
|
0.00005
|
NM_000642.3(AGL):c.261A>G (p.Gln87=)
|
rs370304606
|
0.00005
|
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg)
|
rs752502818
|
0.00005
|
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)
|
rs782475284
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
0.00005
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
NM_000152.5(GAA):c.2330C>T (p.Thr777Met)
|
rs746779016
|
0.00004
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
|
rs201286896
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
NM_000199.5(SGSH):c.1134C>T (p.Ser378=)
|
rs771257931
|
0.00004
|
NM_000199.5(SGSH):c.1135G>A (p.Val379Met)
|
rs541847913
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys)
|
rs761780038
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)
|
rs146093755
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)
|
rs369071579
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-5C>T
|
rs200424566
|
0.00004
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
|
rs766810849
|
0.00004
|
NM_000642.3(AGL):c.*670A>G
|
rs886044927
|
0.00004
|
NM_000642.3(AGL):c.1049T>C (p.Met350Thr)
|
rs761122742
|
0.00004
|
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)
|
rs140002583
|
0.00004
|
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)
|
rs754606378
|
0.00004
|
NM_000642.3(AGL):c.2357C>T (p.Thr786Met)
|
rs147586981
|
0.00004
|
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly)
|
rs374531404
|
0.00004
|
NM_000642.3(AGL):c.3258A>T (p.Ala1086=)
|
rs779468425
|
0.00004
|
NM_000642.3(AGL):c.325G>T (p.Val109Leu)
|
rs369068676
|
0.00004
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
NM_000642.3(AGL):c.767G>A (p.Arg256His)
|
rs200180652
|
0.00004
|
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)
|
rs138139624
|
0.00004
|
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr)
|
rs749067830
|
0.00004
|
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=)
|
rs780638574
|
0.00004
|
NM_006516.4(SLC2A1):c.276-19C>T
|
rs74945664
|
0.00004
|
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=)
|
rs779779804
|
0.00004
|
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)
|
rs534113895
|
0.00004
|
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=)
|
rs368242382
|
0.00004
|
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
|
rs767821988
|
0.00003
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala)
|
rs886043976
|
0.00003
|
NM_000152.5(GAA):c.17C>T (p.Pro6Leu)
|
rs771409180
|
0.00003
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
NM_000152.5(GAA):c.18G>C (p.Pro6=)
|
rs774703637
|
0.00003
|
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu)
|
rs532624326
|
0.00003
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)
|
rs375021198
|
0.00003
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe)
|
rs769312350
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile)
|
rs764585957
|
0.00003
|
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
|
rs756193095
|
0.00003
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu)
|
rs570170198
|
0.00003
|
NM_000199.5(SGSH):c.950-65C>T
|
rs537972451
|
0.00003
|
NM_000404.4(GLB1):c.2016A>G (p.Ser672=)
|
rs756403702
|
0.00003
|
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)
|
rs769748679
|
0.00003
|
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)
|
rs886039377
|
0.00003
|
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)
|
rs200374326
|
0.00003
|
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp)
|
rs146963745
|
0.00003
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)
|
rs149239881
|
0.00003
|
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu)
|
rs141650075
|
0.00003
|
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)
|
rs967834240
|
0.00003
|
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)
|
rs746514019
|
0.00003
|
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
|
rs544658310
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln)
|
rs752153469
|
0.00003
|
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr)
|
rs773083396
|
0.00003
|
NM_000642.3(AGL):c.2681+1G>A
|
rs201201443
|
0.00003
|
NM_000642.3(AGL):c.2814T>G (p.Gly938=)
|
rs147590282
|
0.00003
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys)
|
rs773625464
|
0.00003
|
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val)
|
rs867496787
|
0.00003
|
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser)
|
rs769812980
|
0.00003
|
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)
|
rs771853367
|
0.00003
|
NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr)
|
rs749118487
|
0.00003
|
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp)
|
rs749445010
|
0.00003
|
NM_000642.3(AGL):c.4124A>G (p.Tyr1375Cys)
|
rs886042149
|
0.00003
|
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser)
|
rs150532164
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=)
|
rs755571737
|
0.00003
|
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=)
|
rs778522408
|
0.00003
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp)
|
rs199748889
|
0.00002
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.370C>G (p.Gln124Glu)
|
rs1291571294
|
0.00002
|
NM_000152.5(GAA):c.412C>G (p.Leu138Val)
|
rs761221259
|
0.00002
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000152.5(GAA):c.866C>T (p.Ala289Val)
|
rs145903608
|
0.00002
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000155.4(GALT):c.68C>A (p.Thr23Asn)
|
rs1365354002
|
0.00002
|
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)
|
rs762945205
|
0.00002
|
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)
|
rs780239925
|
0.00002
|
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu)
|
rs150222010
|
0.00002
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp)
|
rs760996554
|
0.00002
|
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu)
|
rs748671633
|
0.00002
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)
|
rs398123429
|
0.00002
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
NM_000512.5(GALNS):c.498del (p.Phe167fs)
|
rs772656696
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)
|
rs771761940
|
0.00002
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
|
rs561895292
|
0.00002
|
NM_000642.3(AGL):c.1187C>T (p.Ala396Val)
|
rs747879201
|
0.00002
|
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile)
|
rs897697440
|
0.00002
|
NM_000642.3(AGL):c.1729A>G (p.Ile577Val)
|
rs762529905
|
0.00002
|
NM_000642.3(AGL):c.1900-6T>C
|
rs749096703
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_000642.3(AGL):c.2682-7T>C
|
rs375256646
|
0.00002
|
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg)
|
rs759461084
|
0.00002
|
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly)
|
rs1245795149
|
0.00002
|
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg)
|
rs769337147
|
0.00002
|
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)
|
rs768133891
|
0.00002
|
NM_000642.3(AGL):c.3362+9G>A
|
rs747485058
|
0.00002
|
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr)
|
rs779439947
|
0.00002
|
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln)
|
rs772774189
|
0.00002
|
NM_000642.3(AGL):c.3836+3A>G
|
rs372921189
|
0.00002
|
NM_000642.3(AGL):c.4539C>T (p.Phe1513=)
|
rs752519483
|
0.00002
|
NM_000642.3(AGL):c.880C>T (p.Pro294Ser)
|
rs886044917
|
0.00002
|
NM_000642.3(AGL):c.959-15T>C
|
rs1159446395
|
0.00002
|
NM_000642.3(AGL):c.966G>A (p.Arg322=)
|
rs199905460
|
0.00002
|
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)
|
rs769805782
|
0.00002
|
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser)
|
rs765656412
|
0.00002
|
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)
|
rs759260599
|
0.00002
|
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln)
|
rs892715050
|
0.00002
|
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser)
|
rs796053245
|
0.00002
|
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=)
|
rs145962512
|
0.00002
|
NM_006516.4(SLC2A1):c.1278+9C>G
|
rs550156548
|
0.00002
|
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu)
|
rs754791604
|
0.00002
|
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro)
|
rs748340730
|
0.00002
|
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)
|
rs765479065
|
0.00002
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
NM_006516.4(SLC2A1):c.495C>T (p.Val165=)
|
rs181115612
|
0.00002
|
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)
|
rs397514564
|
0.00002
|
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=)
|
rs566497194
|
0.00002
|
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys)
|
rs766376173
|
0.00002
|
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)
|
rs201996220
|
0.00002
|
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile)
|
rs920394412
|
0.00002
|
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met)
|
rs749426767
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_000027.4(AGA):c.515T>C (p.Ile172Thr)
|
rs745924498
|
0.00001
|
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
|
rs762454192
|
0.00001
|
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)
|
rs746206847
|
0.00001
|
NM_000108.5(DLD):c.419A>G (p.His140Arg)
|
rs767210810
|
0.00001
|
NM_000108.5(DLD):c.65A>G (p.His22Arg)
|
rs914629774
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
|
rs369775994
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
|
rs777431563
|
0.00001
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser)
|
rs368568190
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
NM_000152.5(GAA):c.1884G>C (p.Val628=)
|
rs780130036
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
NM_000152.5(GAA):c.247G>A (p.Asp83Asn)
|
rs771101156
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
|
rs778816809
|
0.00001
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
NM_000152.5(GAA):c.511G>A (p.Val171Met)
|
rs886053543
|
0.00001
|
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
|
rs1407372901
|
0.00001
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
|
rs751286274
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
NM_000152.5(GAA):c.704C>T (p.Thr235Met)
|
rs752950890
|
0.00001
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
|
rs1160112655
|
0.00001
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
NM_000152.5(GAA):c.910G>A (p.Gly304Ser)
|
rs140301384
|
0.00001
|
NM_000152.5(GAA):c.952A>T (p.Met318Leu)
|
rs886044506
|
0.00001
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
NM_000154.2(GALK1):c.216G>A (p.Leu72=)
|
rs752773767
|
0.00001
|
NM_000154.2(GALK1):c.321C>T (p.Ala107=)
|
rs771880802
|
0.00001
|
NM_000158.4(GBE1):c.1714G>A (p.Asp572Asn)
|
rs775980435
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1135del (p.Val379fs)
|
rs777956287
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.1244C>G (p.Thr415Ser)
|
rs778602791
|
0.00001
|
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
|
rs767649680
|
0.00001
|
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His)
|
rs766657191
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp)
|
rs754273400
|
0.00001
|
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
|
rs1453217230
|
0.00001
|
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
|
rs757563981
|
0.00001
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)
|
rs774010006
|
0.00001
|
NM_000199.5(SGSH):c.292T>C (p.Phe98Leu)
|
rs777669364
|
0.00001
|
NM_000199.5(SGSH):c.297C>G (p.Asn99Lys)
|
rs755846091
|
0.00001
|
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)
|
rs1488660868
|
0.00001
|
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
|
rs751641089
|
0.00001
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg)
|
rs1408975480
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
NM_000199.5(SGSH):c.523G>A (p.Val175Ile)
|
rs753921560
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
|
rs1329133410
|
0.00001
|
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter)
|
rs1555621659
|
0.00001
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
|
rs2041774244
|
0.00001
|
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser)
|
rs756437160
|
0.00001
|
NM_000199.5(SGSH):c.773G>A (p.Arg258His)
|
rs549606472
|
0.00001
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
NM_000199.5(SGSH):c.816C>T (p.Ser272=)
|
rs200485062
|
0.00001
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
NM_000199.5(SGSH):c.88+8C>T
|
rs75720127
|
0.00001
|
NM_000199.5(SGSH):c.942C>T (p.Ser314=)
|
rs759810426
|
0.00001
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val)
|
rs767179184
|
0.00001
|
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)
|
rs767131589
|
0.00001
|
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)
|
rs752339162
|
0.00001
|
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)
|
rs398123430
|
0.00001
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)
|
rs757870208
|
0.00001
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
0.00001
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)
|
rs398123433
|
0.00001
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
|
rs1478665723
|
0.00001
|
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)
|
rs1028668536
|
0.00001
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
NM_000512.5(GALNS):c.320-1G>T
|
rs1245504167
|
0.00001
|
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
|
rs559063128
|
0.00001
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)
|
rs398123439
|
0.00001
|
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)
|
rs118204444
|
0.00001
|
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
NM_000512.5(GALNS):c.567-3C>T
|
rs549597016
|
0.00001
|
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
|
rs772413313
|
0.00001
|
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)
|
rs771810111
|
0.00001
|
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)
|
rs747805226
|
0.00001
|
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)
|
rs753051547
|
0.00001
|
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)
|
rs752039956
|
0.00001
|
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
|
rs775300515
|
0.00001
|
NM_000512.5(GALNS):c.898+1G>A
|
rs761850746
|
0.00001
|
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)
|
rs758439379
|
0.00001
|
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg)
|
rs556060696
|
0.00001
|
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)
|
rs746756997
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000528.4(MAN2B1):c.-19A>G
|
rs886054234
|
0.00001
|
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)
|
rs121434333
|
0.00001
|
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)
|
rs368899357
|
0.00001
|
NM_000528.4(MAN2B1):c.1645-1G>A
|
rs938576591
|
0.00001
|
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)
|
rs747081586
|
0.00001
|
NM_000528.4(MAN2B1):c.1831-2A>G
|
rs80338678
|
0.00001
|
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
|
rs772742355
|
0.00001
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
|
rs775212002
|
0.00001
|
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)
|
rs1369134650
|
0.00001
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)
|
rs1429239930
|
0.00001
|
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
|
rs200872797
|
0.00001
|
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His)
|
rs1408334891
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1050G>A (p.Met350Ile)
|
rs140872573
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.1082+4T>A
|
rs781204563
|
0.00001
|
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)
|
rs775949246
|
0.00001
|
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)
|
rs113994128
|
0.00001
|
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu)
|
rs758882822
|
0.00001
|
NM_000642.3(AGL):c.1255G>A (p.Val419Ile)
|
rs1236981513
|
0.00001
|
NM_000642.3(AGL):c.1388T>A (p.Met463Lys)
|
rs775358277
|
0.00001
|
NM_000642.3(AGL):c.1571G>A (p.Arg524His)
|
rs758182700
|
0.00001
|
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly)
|
rs777393482
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)
|
rs765367405
|
0.00001
|
NM_000642.3(AGL):c.187C>T (p.Arg63Cys)
|
rs778524671
|
0.00001
|
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr)
|
rs372501843
|
0.00001
|
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser)
|
rs773274876
|
0.00001
|
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser)
|
rs188519129
|
0.00001
|
NM_000642.3(AGL):c.2001+3T>G
|
rs1392738838
|
0.00001
|
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)
|
rs765749454
|
0.00001
|
NM_000642.3(AGL):c.2040G>T (p.Trp680Cys)
|
rs756760991
|
0.00001
|
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys)
|
rs780205320
|
0.00001
|
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr)
|
rs776037609
|
0.00001
|
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile)
|
rs1652034728
|
0.00001
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
NM_000642.3(AGL):c.22del (p.Arg8fs)
|
rs1215043175
|
0.00001
|
NM_000642.3(AGL):c.2309-1G>A
|
rs786204481
|
0.00001
|
NM_000642.3(AGL):c.2309-2A>G
|
rs1253347170
|
0.00001
|
NM_000642.3(AGL):c.2337T>C (p.Ala779=)
|
rs928189171
|
0.00001
|
NM_000642.3(AGL):c.2366A>C (p.Tyr789Ser)
|
rs145720433
|
0.00001
|
NM_000642.3(AGL):c.248T>G (p.Leu83Arg)
|
rs560703902
|
0.00001
|
NM_000642.3(AGL):c.2571A>G (p.Gln857=)
|
rs373619867
|
0.00001
|
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln)
|
rs776599112
|
0.00001
|
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)
|
rs772347559
|
0.00001
|
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)
|
rs773095419
|
0.00001
|
NM_000642.3(AGL):c.276del (p.Gln92fs)
|
rs1057517243
|
0.00001
|
NM_000642.3(AGL):c.2905T>C (p.Tyr969His)
|
rs1336583652
|
0.00001
|
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp)
|
rs370787356
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys)
|
rs749163043
|
0.00001
|
NM_000642.3(AGL):c.318C>T (p.Tyr106=)
|
rs376885398
|
0.00001
|
NM_000642.3(AGL):c.3259+1G>A
|
rs1394576194
|
0.00001
|
NM_000642.3(AGL):c.3554del (p.Thr1185fs)
|
rs764318570
|
0.00001
|
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
|
rs372709840
|
0.00001
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
NM_000642.3(AGL):c.3741T>C (p.Phe1247=)
|
rs1279212438
|
0.00001
|
NM_000642.3(AGL):c.3836+4G>A
|
rs1488570554
|
0.00001
|
NM_000642.3(AGL):c.413G>A (p.Gly138Glu)
|
rs773384152
|
0.00001
|
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val)
|
rs752877022
|
0.00001
|
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu)
|
rs772026557
|
0.00001
|
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser)
|
rs766592371
|
0.00001
|
NM_000642.3(AGL):c.4379G>A (p.Arg1460His)
|
rs546855663
|
0.00001
|
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
|
rs780694207
|
0.00001
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
|
rs943273443
|
0.00001
|
NM_000642.3(AGL):c.83-17_83-16del
|
rs751326594
|
0.00001
|
NM_000642.3(AGL):c.853C>T (p.Arg285Ter)
|
rs755747010
|
0.00001
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
NM_000642.3(AGL):c.931G>A (p.Glu311Lys)
|
rs1553184646
|
0.00001
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
NM_000642.3(AGL):c.996C>A (p.His332Gln)
|
rs780811320
|
0.00001
|
NM_000925.4(PDHB):c.45C>G (p.Val15=)
|
rs747916943
|
0.00001
|
NM_000925.4(PDHB):c.582C>G (p.Asn194Lys)
|
rs994015584
|
0.00001
|
NM_002076.4(GNS):c.1634G>A (p.Arg545Gln)
|
rs756752200
|
0.00001
|
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln)
|
rs756303162
|
0.00001
|
NM_005609.4(PYGM):c.1702G>A (p.Val568Met)
|
rs757791045
|
0.00001
|
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn)
|
rs551666681
|
0.00001
|
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=)
|
rs372092107
|
0.00001
|
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)
|
rs780529723
|
0.00001
|
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=)
|
rs755679518
|
0.00001
|
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=)
|
rs758184335
|
0.00001
|
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=)
|
rs750237005
|
0.00001
|
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met)
|
rs764168088
|
0.00001
|
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=)
|
rs769414573
|
0.00001
|
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile)
|
rs200819771
|
0.00001
|
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)
|
rs201748668
|
0.00001
|
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn)
|
rs774241047
|
0.00001
|
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu)
|
rs1159593580
|
0.00001
|
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)
|
rs201815571
|
0.00001
|
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=)
|
rs766043826
|
0.00001
|
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His)
|
rs370031715
|
0.00001
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)
|
rs753161833
|
0.00001
|
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=)
|
rs760599149
|
0.00001
|
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys)
|
rs1333609390
|
0.00001
|
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu)
|
rs774348625
|
0.00001
|
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala)
|
rs781521534
|
0.00001
|
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala)
|
rs987202561
|
0.00001
|
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=)
|
rs759617721
|
0.00001
|
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr)
|
rs1017082606
|
0.00001
|
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)
|
rs1050933017
|
0.00001
|
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)
|
rs1387203768
|
0.00001
|
NM_006516.4(SLC2A1):c.679+5G>A
|
rs771386274
|
0.00001
|
NM_006516.4(SLC2A1):c.680-16C>T
|
rs752942175
|
0.00001
|
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=)
|
rs770293853
|
0.00001
|
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)
|
rs375853334
|
0.00001
|
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)
|
rs1302959508
|
0.00001
|
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu)
|
rs1205631854
|
0.00001
|
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=)
|
rs775408842
|
0.00001
|
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met)
|
rs746091725
|
0.00001
|
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=)
|
rs1643460439
|
0.00001
|
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr)
|
rs1040371265
|
0.00001
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
NM_000027.4(AGA):c.719T>C (p.Ile240Thr)
|
rs1288215227
|
|
NM_000030.3(AGXT):c.358+163G>T
|
rs11681134
|
|
NM_000035.4(ALDOB):c.137G>A (p.Arg46Lys)
|
rs199920124
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
NM_000035.4(ALDOB):c.971C>T (p.Thr324Ile)
|
rs2118341906
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
NM_000046.5(ARSB):c.409G>A (p.Gly137Ser)
|
rs2112530008
|
|
NM_000046.5(ARSB):c.7C>T (p.Pro3Ser)
|
rs887343928
|
|
NM_000108.5(DLD):c.542T>C (p.Ile181Thr)
|
rs1291809324
|
|
NM_000151.4(G6PC1):c.209G>C (p.Trp70Ser)
|
rs1567702823
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser)
|
rs1283810246
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
|
rs777571608
|
|
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
|
rs1567834141
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu)
|
rs886043997
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
NM_000152.5(GAA):c.18G>A (p.Pro6=)
|
rs774703637
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
NM_000152.5(GAA):c.212A>G (p.His71Arg)
|
rs760205477
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)
|
rs1057524664
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
NM_000152.5(GAA):c.2331+48C>A
|
rs2143921034
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
|
rs1052555748
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
NM_000152.5(GAA):c.2811C>G (p.Ile937Met)
|
rs2039429760
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.546+8G>A
|
rs200107080
|
|
NM_000152.5(GAA):c.667C>T (p.Arg223Cys)
|
rs886043961
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
|
rs772002851
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+4C>G
|
rs886042706
|
|
NM_000152.5(GAA):c.924C>A (p.His308Gln)
|
rs370105640
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000154.2(GALK1):c.460C>T (p.Gln154Ter)
|
rs2143603585
|
|
NM_000154.2(GALK1):c.998T>G (p.Leu333Arg)
|
rs2061565422
|
|
NM_000155.4(GALT):c.630G>A (p.Lys210=)
|
rs367543260
|
|
NM_000158.4(GBE1):c.-35dup
|
rs11391701
|
|
NM_000158.4(GBE1):c.-4G>A
|
rs1283709127
|
|
NM_000181.4(GUSB):c.724+23TC[3]
|
rs3830444
|
|
NM_000199.5(SGSH):c.*69C>T
|
rs576879796
|
|
NM_000199.5(SGSH):c.-12G>A
|
rs1598772757
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del)
|
rs1555620306
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
NM_000199.5(SGSH):c.1084T>G (p.Phe362Val)
|
rs1555620294
|
|
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg)
|
rs1428699412
|
|
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg)
|
rs1434209913
|
|
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu)
|
rs62620232
|
|
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del)
|
rs2041613993
|
|
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)
|
rs1064794815
|
|
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser)
|
rs1555623007
|
|
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
|
rs1230391147
|
|
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs)
|
rs1412408576
|
|
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser)
|
rs886053559
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del)
|
rs1555620148
|
|
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)
|
rs900198526
|
|
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn)
|
rs886053558
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
|
rs2041599125
|
|
NM_000199.5(SGSH):c.1416G>C (p.Gln472His)
|
rs1555620072
|
|
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)
|
rs780969693
|
|
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs)
|
rs1555620043
|
|
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter)
|
rs1232231848
|
|
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)
|
rs1281022554
|
|
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
|
rs779856036
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe)
|
rs1555622928
|
|
NM_000199.5(SGSH):c.211T>C (p.Ser71Pro)
|
rs398123245
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
|
rs1385318543
|
|
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
|
rs2041839563
|
|
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
|
rs775553760
|
|
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro)
|
rs749358773
|
|
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup)
|
rs1555624091
|
|
NM_000199.5(SGSH):c.506+13G>T
|
rs201177560
|
|
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly)
|
rs760996554
|
|
NM_000199.5(SGSH):c.532C>G (p.His178Asp)
|
rs1598748596
|
|
NM_000199.5(SGSH):c.542A>G (p.His181Arg)
|
rs776228545
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)
|
rs200644359
|
|
NM_000199.5(SGSH):c.658G>A (p.Val220Met)
|
rs150508741
|
|
NM_000199.5(SGSH):c.658G>C (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.664-39_664-36delinsGC
|
rs386799751
|
|
NM_000199.5(SGSH):c.664-39_664-38del
|
rs34029730
|
|
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)
|
rs1057521801
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly)
|
rs374621913
|
|
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn)
|
rs886053560
|
|
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile)
|
rs774439487
|
|
NM_000199.5(SGSH):c.726C>T (p.Thr242=)
|
rs1347877363
|
|
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)
|
rs104894635
|
|
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly)
|
rs1314742501
|
|
NM_000199.5(SGSH):c.841G>T (p.Gly281Cys)
|
rs541222703
|
|
NM_000199.5(SGSH):c.89-18_89-15del
|
rs768357480
|
|
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys)
|
rs1598742412
|
|
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
|
rs1385473515
|
|
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp)
|
rs753934983
|
|
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)
|
rs747197522
|
|
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)
|
rs758756630
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
NM_000202.8(IDS):c.1006+1G>A
|
rs869025308
|
|
NM_000202.8(IDS):c.1007-7G>C
|
rs2124006476
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
|
rs199422229
|
|
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)
|
rs886044835
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)
|
rs864622772
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)
|
rs2089304408
|
|
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter)
|
rs199422228
|
|
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)
|
rs2124648301
|
|
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)
|
rs886044837
|
|
NM_000202.8(IDS):c.181T>C (p.Ser61Pro)
|
rs113993955
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)
|
rs1569560527
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
|
rs1557340280
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
NM_000202.8(IDS):c.508-1G>A
|
rs113993947
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
NM_000202.8(IDS):c.592G>A (p.Asp198Asn)
|
rs193302904
|
|
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
|
rs2089450754
|
|
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
|
rs2089450305
|
|
NM_000202.8(IDS):c.934G>A (p.Gly312Ser)
|
rs903259179
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)
|
rs3755955
|
|
NM_000203.5(IDUA):c.590-45G>C
|
rs6829789
|
|
NM_000203.5(IDUA):c.590-8C>T
|
rs6848974
|
|
NM_000203.5(IDUA):c.973-45G>C
|
rs6831021
|
|
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)
|
rs86312
|
|
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile)
|
rs1266995508
|
|
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile)
|
rs1950938419
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
NM_000308.4(CTSA):c.870-15del
|
rs3215446
|
|
NM_000404.4(GLB1):c.1658T>C (p.Met553Thr)
|
rs2125463098
|
|
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)
|
rs199694629
|
|
NM_000404.4(GLB1):c.821T>C (p.Leu274Pro)
|
rs1699012933
|
|
NM_000507.4(FBP1):c.826-22G>A
|
rs28369775
|
|
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)
|
rs1567526805
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
NM_000512.5(GALNS):c.1139+1G>A
|
rs765608680
|
|
NM_000512.5(GALNS):c.1192del (p.His398fs)
|
rs1910636198
|
|
NM_000512.5(GALNS):c.120+1G>C
|
rs911877265
|
|
NM_000512.5(GALNS):c.121-2A>G
|
rs1567538216
|
|
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)
|
rs1555523411
|
|
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)
|
rs398123432
|
|
NM_000512.5(GALNS):c.1364+1G>A
|
rs773746427
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
|
rs2143005523
|
|
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)
|
rs398123435
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)
|
rs1444754604
|
|
NM_000512.5(GALNS):c.405_422+1del
|
rs398123437
|
|
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)
|
rs794727625
|
|
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
NM_000512.5(GALNS):c.489del (p.Asn164fs)
|
rs1328983959
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.498C>G (p.His166Gln)
|
rs1301198698
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)
|
rs786205899
|
|
NM_000512.5(GALNS):c.604del (p.Glu202fs)
|
rs1382823339
|
|
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)
|
rs118204449
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys)
|
rs751446283
|
|
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)
|
rs2142999207
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn)
|
rs377285422
|
|
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro)
|
rs1597559500
|
|
NM_000528.4(MAN2B1):c.1030G>C (p.Ala344Pro)
|
rs2145262302
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
|
rs117880912
|
|
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs)
|
rs2145261994
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro)
|
rs1479309756
|
|
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)
|
rs781291011
|
|
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs)
|
rs2024020274
|
|
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)
|
rs2024019978
|
|
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)
|
rs1057517408
|
|
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)
|
rs2024014272
|
|
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
|
rs771647137
|
|
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)
|
rs1599350640
|
|
NM_000528.4(MAN2B1):c.1534del (p.Val512fs)
|
rs2023968643
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter)
|
rs376719984
|
|
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)
|
rs121434332
|
|
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)
|
rs1599344532
|
|
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)
|
rs398123455
|
|
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
|
rs756680048
|
|
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)
|
rs2023854692
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
NM_000528.4(MAN2B1):c.2165+1G>A
|
rs80338679
|
|
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)
|
rs1392422167
|
|
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)
|
rs1555706706
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs)
|
rs2023782686
|
|
NM_000528.4(MAN2B1):c.2329C>T (p.Pro777Ser)
|
rs1599340883
|
|
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
|
rs1008745697
|
|
NM_000528.4(MAN2B1):c.2356-2A>G
|
rs1064793936
|
|
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)
|
rs1347035611
|
|
NM_000528.4(MAN2B1):c.2437-2A>G
|
rs1445197546
|
|
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
|
rs2024217737
|
|
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs)
|
rs2145225250
|
|
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs)
|
rs2023745479
|
|
NM_000528.4(MAN2B1):c.2665-165G>C
|
rs2145222928
|
|
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)
|
rs1406466561
|
|
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)
|
rs767323371
|
|
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)
|
rs1555706137
|
|
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs)
|
rs2145221516
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)
|
rs750997069
|
|
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)
|
rs1599337939
|
|
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)
|
rs148108322
|
|
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
|
rs1376771729
|
|
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)
|
rs757072948
|
|
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)
|
rs1555709972
|
|
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)
|
rs1366682636
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
|
rs2024205685
|
|
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)
|
rs886054233
|
|
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)
|
rs2024155693
|
|
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)
|
rs2024151949
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
NM_000545.8(HNF1A):c.1309+86TCAT[6]
|
rs58371019
|
|
NM_000642.3(AGL):c.-69+1G>C
|
rs1413359590
|
|
NM_000642.3(AGL):c.1000dup (p.Thr334fs)
|
rs1553185302
|
|
NM_000642.3(AGL):c.1020del (p.Glu340fs)
|
rs1651357012
|
|
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly)
|
rs1216156102
|
|
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)
|
rs1057516567
|
|
NM_000642.3(AGL):c.1054A>G (p.Ile352Val)
|
rs1651360894
|
|
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro)
|
rs750705888
|
|
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu)
|
rs928357712
|
|
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
|
rs1045745115
|
|
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)
|
rs1057516741
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000642.3(AGL):c.122G>A (p.Gly41Glu)
|
|
|
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln)
|
rs758882822
|
|
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
|
rs149771710
|
|
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe)
|
rs149771710
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg)
|
rs146493448
|
|
NM_000642.3(AGL):c.1423+1G>C
|
rs751952198
|
|
NM_000642.3(AGL):c.1423+1G>T
|
rs751952198
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.1459T>C (p.Trp487Arg)
|
rs1557760604
|
|
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)
|
rs1553185905
|
|
NM_000642.3(AGL):c.1735+5G>A
|
|
|
NM_000642.3(AGL):c.1735+5dup
|
rs766616589
|
|
NM_000642.3(AGL):c.1823G>A (p.Cys608Tyr)
|
rs1317587334
|
|
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
|
rs781127120
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.1900-13T>A
|
rs533280246
|
|
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
|
|
|
NM_000642.3(AGL):c.1912T>C (p.Tyr638His)
|
|
|
NM_000642.3(AGL):c.2001+8_2001+9delinsCT
|
rs1064794512
|
|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
NM_000642.3(AGL):c.2036del (p.Lys679fs)
|
rs2100759432
|
|
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg)
|
rs778021848
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
NM_000642.3(AGL):c.2158-18_2158-16del
|
rs770934299
|
|
NM_000642.3(AGL):c.2158-2A>G
|
rs878959417
|
|
NM_000642.3(AGL):c.2204A>C (p.His735Pro)
|
rs749756974
|
|
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)
|
rs1553186613
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2283G>T (p.Lys761Asn)
|
|
|
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu)
|
rs2100760670
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.2538dup (p.Ile847fs)
|
rs1057516984
|
|
NM_000642.3(AGL):c.2565T>C (p.His855=)
|
rs1312742910
|
|
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)
|
rs1057516254
|
|
NM_000642.3(AGL):c.2638G>C (p.Ala880Pro)
|
|
|
NM_000642.3(AGL):c.2659A>G (p.Ile887Val)
|
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2681+1G>T
|
rs201201443
|
|
NM_000642.3(AGL):c.2681+4dup
|
rs754242194
|
|
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
|
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg)
|
rs1010866326
|
|
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)
|
rs1652877420
|
|
NM_000642.3(AGL):c.2896A>T (p.Met966Leu)
|
rs772843306
|
|
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)
|
rs1553183220
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
|
rs147977213
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000642.3(AGL):c.2949+2T>A
|
rs750492389
|
|
NM_000642.3(AGL):c.2949+2dup
|
rs1553188589
|
|
NM_000642.3(AGL):c.2950-2A>C
|
rs770438130
|
|
NM_000642.3(AGL):c.2996del (p.Pro999fs)
|
rs1652909202
|
|
NM_000642.3(AGL):c.2998C>T (p.Arg1000Cys)
|
|
|
NM_000642.3(AGL):c.3011del (p.Pro1004fs)
|
rs1057516306
|
|
NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)
|
|
|
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)
|
rs774926455
|
|
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu)
|
rs569268763
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)
|
rs1553188849
|
|
NM_000642.3(AGL):c.3260-14_3260-10dup
|
rs1653309500
|
|
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)
|
rs786204490
|
|
NM_000642.3(AGL):c.3347G>A (p.Arg1116His)
|
rs746779518
|
|
NM_000642.3(AGL):c.3362+1G>A
|
rs1553189468
|
|
NM_000642.3(AGL):c.3362+2T>C
|
rs2100804114
|
|
NM_000642.3(AGL):c.3428G>T (p.Gly1143Val)
|
|
|
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter)
|
rs776977863
|
|
NM_000642.3(AGL):c.344T>C (p.Val115Ala)
|
rs567992352
|
|
NM_000642.3(AGL):c.348_373del (p.Ala117fs)
|
rs1057516308
|
|
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile)
|
rs758562610
|
|
NM_000642.3(AGL):c.3589-1G>A
|
rs1289339080
|
|
NM_000642.3(AGL):c.3613C>G (p.Gln1205Glu)
|
rs775498547
|
|
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)
|
rs775498547
|
|
NM_000642.3(AGL):c.3639G>C (p.Gln1213His)
|
rs1213904866
|
|
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg)
|
rs749118487
|
|
NM_000642.3(AGL):c.3701-5T>G
|
rs1057523410
|
|
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs)
|
rs2100849229
|
|
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)
|
rs1057517017
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
|
|
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)
|
rs765807203
|
|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3927T>A (p.His1309Gln)
|
rs1200885928
|
|
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly)
|
rs757161555
|
|
NM_000642.3(AGL):c.4083A>G (p.Ile1361Met)
|
rs897156043
|
|
NM_000642.3(AGL):c.4119T>C (p.Cys1373=)
|
rs1057521342
|
|
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)
|
rs762602838
|
|
NM_000642.3(AGL):c.4161+11C>G
|
rs886038361
|
|
NM_000642.3(AGL):c.4162-11G>A
|
rs184309460
|
|
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)
|
rs1293077915
|
|
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp)
|
rs1570514873
|
|
NM_000642.3(AGL):c.4197del (p.Ala1400fs)
|
rs786204595
|
|
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe)
|
rs772976797
|
|
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del)
|
rs1300198233
|
|
NM_000642.3(AGL):c.4221del (p.Lys1407fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val)
|
rs758570060
|
|
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
|
|
|
NM_000642.3(AGL):c.4282T>C (p.Tyr1428His)
|
|
|
NM_000642.3(AGL):c.4290T>C (p.Asn1430=)
|
rs886038362
|
|
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4323del (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)
|
rs1553193486
|
|
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter)
|
rs1655136943
|
|
NM_000642.3(AGL):c.4378C>T (p.Arg1460Cys)
|
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
|
rs113994134
|
|
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del)
|
rs1553193523
|
|
NM_000642.3(AGL):c.4482-18G>A
|
rs1057521645
|
|
NM_000642.3(AGL):c.4482-19T>C
|
rs370127763
|
|
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
|
rs1650125542
|
|
NM_000642.3(AGL):c.460+1G>A
|
rs930434905
|
|
NM_000642.3(AGL):c.500dup (p.Leu168fs)
|
rs1443902661
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000642.3(AGL):c.573G>C (p.Lys191Asn)
|
rs781491884
|
|
NM_000642.3(AGL):c.613A>T (p.Lys205Ter)
|
rs562042076
|
|
NM_000642.3(AGL):c.64del (p.Leu22fs)
|
rs1057517057
|
|
NM_000642.3(AGL):c.664+1G>A
|
rs61811105
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
NM_000642.3(AGL):c.833A>G (p.Asp278Gly)
|
|
|
NM_000642.3(AGL):c.837C>A (p.His279Gln)
|
rs1242665410
|
|
NM_000642.3(AGL):c.854del (p.Arg285fs)
|
rs1553184620
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_000642.3(AGL):c.891dup (p.Leu298fs)
|
rs775335476
|
|
NM_000642.3(AGL):c.895T>G (p.Trp299Gly)
|
rs773101055
|
|
NM_000642.3(AGL):c.922A>G (p.Lys308Glu)
|
rs2101113540
|
|
NM_000642.3(AGL):c.958+1G>A
|
rs1553184657
|
|
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)
|
rs757987101
|
|
NM_000642.3(AGL):c.974C>G (p.Thr325Ser)
|
rs2101126080
|
|
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)
|
rs1392622459
|
|
NM_001008216.2(GALE):c.529-11A>G
|
|
|
NM_001041.4(SI):c.374-11del
|
rs11313475
|
|
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.1004G>A (p.Gly335Glu)
|
rs1326123837
|
|
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
|
rs538938823
|
|
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)
|
rs1295327218
|
|
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1960+117A>T
|
rs2835455
|
|
NM_001352514.2(HLCS):c.2450+136C>T
|
rs9977769
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu)
|
rs193298317
|
|
NM_001358263.1(HK1):c.75+23T>C
|
rs4746837
|
|
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu)
|
rs1295528438
|
|
NM_001370658.1(BTD):c.195C>T (p.Leu65=)
|
rs2125454784
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp)
|
rs2125500615
|
|
NM_001543.5(NDST1):c.1846+23G>C
|
rs2304063
|
|
NM_001543.5(NDST1):c.750A>G (p.Pro250=)
|
rs2273234
|
|
NM_002076.4(GNS):c.1064G>T (p.Arg355Leu)
|
rs751200375
|
|
NM_002076.4(GNS):c.430A>G (p.Thr144Ala)
|
rs2136249846
|
|
NM_002076.4(GNS):c.454A>G (p.Asn152Asp)
|
rs2136249836
|
|
NM_002299.4(LCT):c.655G>A (p.Val219Ile)
|
rs3754689
|
|
NM_002863.5(PYGL):c.*11del
|
rs3216001
|
|
NM_002863.5(PYGL):c.1828-2del
|
rs11356035
|
|
NM_003754.3(EIF3F):c.*24C>T
|
rs15879
|
|
NM_005609.4(PYGM):c.1448A>C (p.Lys483Thr)
|
rs2135832293
|
|
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile)
|
rs1555134900
|
|
NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys)
|
rs2135823341
|
|
NM_005609.4(PYGM):c.307C>G (p.Leu103Val)
|
rs2135840833
|
|
NM_005645.4(TAF13):c.-2G>A
|
|
|
NM_005883.3(APC2):c.4384A>C (p.Arg1462=)
|
rs265273
|
|
NM_005908.4(MANBA):c.1705-13C>A
|
rs34754408
|
|
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)
|
rs2866413
|
|
NM_005908.4(MANBA):c.2416-10del
|
rs5860729
|
|
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val)
|
rs755946345
|
|
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)
|
rs587784390
|
|
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)
|
rs2229681
|
|
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
|
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=)
|
rs143588685
|
|
NM_006516.4(SLC2A1):c.1075-14G>A
|
rs777450540
|
|
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala)
|
rs796053259
|
|
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met)
|
rs796053260
|
|
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
|
|
|
NM_006516.4(SLC2A1):c.115-2A>C
|
rs2124450950
|
|
NM_006516.4(SLC2A1):c.115-2A>G
|
rs2124450950
|
|
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=)
|
rs76860965
|
|
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)
|
rs1027810691
|
|
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)
|
rs796053263
|
|
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)
|
rs776095655
|
|
NM_006516.4(SLC2A1):c.1199G>T (p.Arg400Leu)
|
rs776095655
|
|
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys)
|
rs769722007
|
|
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)
|
rs1570590876
|
|
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile)
|
rs2124446216
|
|
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu)
|
rs1570590834
|
|
NM_006516.4(SLC2A1):c.1272T>G (p.Tyr424Ter)
|
rs796053264
|
|
NM_006516.4(SLC2A1):c.1278+12del
|
rs368437445
|
|
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT
|
rs2124446051
|
|
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser)
|
rs796053274
|
|
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter)
|
rs75485205
|
|
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)
|
rs864309522
|
|
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
|
|
|
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile)
|
rs1216296247
|
|
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=)
|
rs1469205406
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr)
|
rs2124445324
|
|
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val)
|
rs796053246
|
|
NM_006516.4(SLC2A1):c.18+1G>A
|
rs80359841
|
|
NM_006516.4(SLC2A1):c.19-2A>G
|
rs796053272
|
|
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)
|
rs2124478725
|
|
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
|
|
|
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met)
|
rs1570601100
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
|
|
|
NM_006516.4(SLC2A1):c.276-1G>A
|
rs1570593665
|
|
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
|
rs1643481875
|
|
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)
|
rs1553157935
|
|
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=)
|
rs76672402
|
|
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu)
|
rs577667739
|
|
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=)
|
rs1393465480
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser)
|
rs80359819
|
|
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
|
rs1057518953
|
|
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met)
|
rs1057517822
|
|
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met)
|
rs760130033
|
|
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter)
|
rs1413339367
|
|
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)
|
rs1057520545
|
|
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg)
|
rs1345986424
|
|
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)
|
rs80359832
|
|
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)
|
rs1085308009
|
|
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro)
|
rs1570592942
|
|
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter)
|
rs1570592933
|
|
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter)
|
rs2124449417
|
|
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala)
|
rs2124449385
|
|
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu)
|
rs771352226
|
|
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)
|
rs2229682
|
|
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter)
|
rs1057521967
|
|
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)
|
rs2124449313
|
|
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)
|
rs387907312
|
|
NM_006516.4(SLC2A1):c.634del (p.Arg212fs)
|
rs2124449299
|
|
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His)
|
rs886039517
|
|
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val)
|
rs2124449273
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.679+7G>T
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.680-11G>A
|
rs1259158687
|
|
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=)
|
rs2124449097
|
|
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)
|
rs387907313
|
|
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
|
rs794729221
|
|
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)
|
rs1570592604
|
|
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)
|
rs2124449015
|
|
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)
|
rs1165759782
|
|
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)
|
|
|
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter)
|
rs587784396
|
|
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=)
|
rs1553156067
|
|
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp)
|
rs1451575059
|
|
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del)
|
rs1557645931
|
|
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)
|
rs80359822
|
|
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His)
|
rs758919432
|
|
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His)
|
rs1411827478
|
|
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter)
|
rs1553156053
|
|
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)
|
rs121909740
|
|
NM_006516.4(SLC2A1):c.835C>T (p.Gln279Ter)
|
rs1553156051
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter)
|
rs1057521066
|
|
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter)
|
rs587784397
|
|
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=)
|
rs1553156049
|
|
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)
|
rs80359823
|
|
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly)
|
rs1425773776
|
|
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
|
rs80359824
|
|
NM_006516.4(SLC2A1):c.939dup (p.Gly314fs)
|
rs886041590
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met)
|
rs780528770
|
|
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=)
|
rs780528770
|
|
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)
|
rs796053253
|
|
NM_006516.4(SLC2A1):c.972+20C>G
|
rs781545555
|
|
NM_006516.4(SLC2A1):c.972+7C>G
|
rs1553155998
|
|
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)
|
rs796053254
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
NM_006618.5(KDM5B):c.2198+25dup
|
rs3216061
|
|
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=)
|
rs1141109
|
|
NM_012203.2(GRHPR):c.1A>G (p.Met1Val)
|
rs1554746094
|
|
NM_012434.5(SLC17A5):c.1111+1G>T
|
rs777862172
|
|
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)
|
rs1057517119
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|
NM_012434.5(SLC17A5):c.409del (p.Met137fs)
|
rs794729653
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
NM_012434.5(SLC17A5):c.525+36G>C
|
rs12192476
|
|
NM_012434.5(SLC17A5):c.719G>T (p.Trp240Leu)
|
rs386833993
|
|
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)
|
rs149340734
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
|
NM_015981.4(CAMK2A):c.1467-87A>T
|
rs17712679
|
|
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del)
|
rs71929261
|
|
NM_021957.4(GYS2):c.1890+25del
|
rs36023861
|
|
NM_024824.5(ZC3H14):c.1354+15A>G
|
rs2297124
|
|
NM_031229.4(RBCK1):c.282C>T (p.Phe94=)
|
rs753580979
|
|
NM_138775.3(ALKBH8):c.772-72_772-71del
|
rs5794554
|
|
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)
|
rs2130807297
|
|