ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Genome-Nilou Lab

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1810
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HGVS dbSNP gnomAD frequency
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

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