ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by Invitae

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1501
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HGVS dbSNP gnomAD frequency
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_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val) rs2172397 0.97909
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys) rs1769259 0.95944
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_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_024989.4(PGAP1):c.649+17G>A rs12693800 0.89159
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_005327.7(HADH):c.257T>C (p.Leu86Pro) rs4956145 0.86661
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_000152.5(GAA):c.2331+20G>A rs2304832 0.80041
NM_021957.4(GYS2):c.1169+12A>T rs4639981 0.76485
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_021957.4(GYS2):c.1229+11G>A rs1871137 0.75356
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180 0.74398
NM_000642.3(AGL):c.959-18G>A rs634880 0.73702
NM_000151.4(G6PC1):c.*23T>C rs2229611 0.73413
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_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_001008216.2(GALE):c.873+13G>A rs760941 0.65959
NM_000642.3(AGL):c.2812+11G>A rs555929 0.65828
NM_000152.5(GAA):c.547-39T>G rs12452721 0.65696
NM_000152.5(GAA):c.547-67C>G rs8069491 0.65691
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000308.4(CTSA):c.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_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369 0.64950
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_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_001365304.2(LOC112694756):c.*489-63G>C rs9783783 0.52268
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_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_016219.5(MAN1B1):c.*384A>G rs4567 0.49708
NM_000181.4(GUSB):c.1653+151A>G rs1880555 0.49681
NM_016203.4(PRKAG2):c.114+13034A>G rs4726104 0.49619
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_000343.4(SLC5A1):c.1129+7T>G rs5998233 0.47147
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_001739.2(CA5A):c.143-9T>A rs12922226 0.41434
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NC_000003.12:g.171027026T>C rs5396 0.38870
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.32051
NM_000507.4(FBP1):c.426+7C>T rs8192689 0.31642
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
NM_000507.4(FBP1):c.651C>T (p.Ala217=) rs1042144 0.30883
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_006859.4(LIAS):c.884-14T>A rs2125314 0.30396
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_004130.4(GYG1):c.552G>A (p.Pro184=) rs4938 0.29862
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464 0.28606
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg) rs13551 0.27120
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
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_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_000340.2(SLC2A2):c.496+8A>T rs5402 0.22868
NC_000003.12:g.171027131T>G rs5393 0.22748
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
NM_000340.2(SLC2A2):c.776-15C>T rs5406 0.21500
NM_000262.3(NAGA):c.598-15C>T rs2854827 0.21339
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_002863.5(PYGL):c.2016C>T (p.Thr672=) rs15669 0.21064
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_021957.4(GYS2):c.942-17G>A rs8192697 0.18537
NM_016203.4(PRKAG2):c.467-12630G>T rs1860746 0.17340
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.16834
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_001739.2(CA5A):c.807A>T (p.Ala269=) rs72816311 0.16645
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_002863.5(PYGL):c.1020C>T (p.Asp340=) rs2075643 0.16448
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_001739.2(CA5A):c.453C>T (p.Pro151=) rs7186698 0.16216
NM_001164277.2(SLC37A4):c.-195-64C>T rs56258965 0.15980
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NC_000003.12:g.171027104G>A rs5394 0.15011
NM_031229.4(RBCK1):c.261+15G>T rs11698154 0.14404
NM_016203.4(PRKAG2):c.-26C>T rs66628686 0.14343
NM_001365304.2(LOC112694756):c.*1508+17G>T rs2071390 0.13976
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494 0.13698
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_005327.7(HADH):c.257= (p.Leu86=) rs4956145 0.13339
NM_005566.4(LDHA):c.348C>A (p.Ile116=) rs6498 0.12798
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_000293.3(PHKB):c.775-6G>C rs56268318 0.12475
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_001164277.2(SLC37A4):c.626+19C>T rs741811 0.11102
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) rs2070955 0.10031
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760 0.10011
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) rs946616 0.09756
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144 0.09257
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194 0.08854
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189 0.07133
NM_000404.4(GLB1):c.1561= (p.Cys521=) rs4302331 0.06888
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389 0.06703
NM_001931.5(DLAT):c.975+16G>T rs539991 0.06626
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_000152.5(GAA):c.1754+12G>A rs2304840 0.06396
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_000262.3(NAGA):c.957+4C>G rs55715427 0.05864
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_006859.4(LIAS):c.507A>G (p.Glu169=) rs35086467 0.05609
NM_000308.4(CTSA):c.219C>G (p.Pro73=) rs742035 0.05580
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536 0.05436
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307 0.05399
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln) rs33954001 0.04760
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244 0.04608
NM_024989.4(PGAP1):c.1862-3C>T rs73988069 0.04584
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=) rs17683448 0.04560
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=) rs33954397 0.04560
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) rs17683430 0.04557
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) rs17683011 0.04555
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=) rs17683704 0.04554
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_000199.5(SGSH):c.746-4A>G rs7218267 0.04487
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=) rs34123220 0.04470
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04448
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403 0.04398
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_000507.4(FBP1):c.276G>T (p.Thr92=) rs16910744 0.04339
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168 0.04331
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=) rs33943816 0.04197
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_004130.4(GYG1):c.114C>T (p.Leu38=) rs61733452 0.04021
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385 0.03914
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292 0.03695
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03592
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967 0.03559
NM_001352514.2(HLCS):c.1960+16T>A rs73398135 0.03462
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_001739.2(CA5A):c.138C>A (p.Asn46Lys) rs74041853 0.03363
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001040716.2(PC):c.2224-9T>G rs45560936 0.03311
NM_000284.4(PDHA1):c.604-15C>T rs13440874 0.03269
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_031229.4(RBCK1):c.144G>A (p.Glu48=) rs41281892 0.03013
NM_000292.3(PHKA2):c.2361-12A>C rs148877451 0.02944
NM_000290.4(PGAM2):c.324G>A (p.Gly108=) rs112828964 0.02943
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_053013.4(ENO3):c.1236-17C>T rs77614413 0.02756
NM_053013.4(ENO3):c.240+17G>A rs75279666 0.02755
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) rs138066694 0.02710
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691 0.02685
NM_006859.4(LIAS):c.737+13A>T rs79572060 0.02580
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032 0.02579
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640 0.02554
NM_021957.4(GYS2):c.2067C>T (p.His689=) rs7954038 0.02548
NM_021957.4(GYS2):c.1464A>G (p.Leu488=) rs35403985 0.02543
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455 0.02463
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys) rs77325391 0.02424
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667 0.02371
NM_024989.4(PGAP1):c.534T>G (p.Leu178=) rs35444896 0.02335
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu) rs16924002 0.02117
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.02098
NM_002863.5(PYGL):c.772+16G>T rs17123173 0.02096
NM_021957.4(GYS2):c.1965G>C (p.Gln655His) rs117639846 0.02061
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507 0.02015
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000642.3(AGL):c.1185+15T>C rs17121466 0.01894
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_000181.4(GUSB):c.-12G>A rs2279903 0.01784
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787 0.01778
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_001008216.2(GALE):c.709+14C>G rs6692104 0.01759
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=) rs34871377 0.01714
NM_001739.2(CA5A):c.645C>T (p.Phe215=) rs149154082 0.01677
NM_002076.4(GNS):c.459+14T>C rs78614637 0.01673
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070 0.01648
NM_053013.4(ENO3):c.1235+3A>G rs73973669 0.01622
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_000308.4(CTSA):c.1353G>A (p.Thr451=) rs25649 0.01568
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_000512.5(GALNS):c.566+10C>T rs77514811 0.01544
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305 0.01529
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala) rs61733199 0.01511
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_000308.4(CTSA):c.444+14C>T rs6032580 0.01474
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_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460 0.01434
NM_000292.3(PHKA2):c.849T>A (p.Ile283=) rs61733284 0.01392
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01382
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805 0.01381
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=) rs149815494 0.01375
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_000340.2(SLC2A2):c.1069-9T>C rs5407 0.01360
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036 0.01323
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458 0.01301
NM_001164277.2(SLC37A4):c.626+14C>T rs56394886 0.01293
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765 0.01233
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924 0.01223
NM_002863.5(PYGL):c.1621-6T>C rs74539788 0.01217
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_000293.3(PHKB):c.1363+13G>T rs117536391 0.01189
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745 0.01182
NM_000292.3(PHKA2):c.718-3C>T rs140662042 0.01175
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501 0.01154
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569 0.01148
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317 0.01145
NM_002103.5(GYS1):c.1549+7G>A rs5449 0.01125
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01104
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=) rs74459402 0.01097
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_005566.4(LDHA):c.387G>A (p.Pro129=) rs61752915 0.01092
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_000343.4(SLC5A1):c.1666-5T>C rs33968460 0.01076
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187 0.01075
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759 0.01068
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974 0.01056
NM_000528.4(MAN2B1):c.2436+17C>T rs148420017 0.01054
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.01054
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_000027.4(AGA):c.622+13T>C rs75260482 0.01039
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_004130.4(GYG1):c.319-12C>T rs114156848 0.00990
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_053013.4(ENO3):c.994G>A (p.Val332Ile) rs61735456 0.00983
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456 0.00975
NM_031229.4(RBCK1):c.757-15G>C rs200457271 0.00970
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029 0.00947
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852 0.00944
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100 0.00943
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=) rs61729452 0.00939
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00929
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000293.3(PHKB):c.870+17T>C rs75918606 0.00923
NM_000151.4(G6PC1):c.-77G>A rs145752565 0.00919
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849 0.00909
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563 0.00878
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340 0.00862
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357 0.00851
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501 0.00850
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615 0.00845
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251 0.00829
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_001365304.2(LOC112694756):c.*889-16C>A rs78124282 0.00797
NM_004130.4(GYG1):c.159A>G (p.Thr53=) rs148619511 0.00795
NM_053013.4(ENO3):c.1041C>T (p.Ile347=) rs114208569 0.00794
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922 0.00793
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala) rs33951240 0.00787
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_000343.4(SLC5A1):c.1130-9C>T rs33914280 0.00761
NM_001352514.2(HLCS):c.494-13A>G rs76785742 0.00759
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256 0.00755
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) rs35501326 0.00753
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281 0.00738
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911 0.00722
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) rs5448 0.00719
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936 0.00703
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_000035.4(ALDOB):c.-214G>A rs185972191 0.00678
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) rs145400751 0.00662
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_024989.4(PGAP1):c.1952+10A>C rs7609297 0.00652
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455 0.00647
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452 0.00624
NM_000404.4(GLB1):c.793-19C>T rs114082733 0.00619
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237 0.00617
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) rs56705397 0.00598
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362 0.00580
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_021957.4(GYS2):c.1872A>G (p.Glu624=) rs142883971 0.00562
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890 0.00558
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197 0.00547
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875 0.00531
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929 0.00520
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_000292.3(PHKA2):c.963C>T (p.Phe321=) rs35010660 0.00498
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_016203.4(PRKAG2):c.1234-317T>G rs141541040 0.00473
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381 0.00464
NM_021957.4(GYS2):c.577G>A (p.Ala193Thr) rs16924038 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00453
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849 0.00453
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_000293.3(PHKB):c.1126+14T>G rs28691569 0.00450
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_006765.4(TUSC3):c.862+19G>A rs144272482 0.00435
NM_012434.5(SLC17A5):c.33C>T (p.Asn11=) rs139255194 0.00433
NM_000925.4(PDHB):c.303+16T>C rs75014325 0.00417
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_002076.4(GNS):c.792+16A>G rs148924072 0.00415
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=) rs12000048 0.00411
NM_000154.2(GALK1):c.957G>A (p.Glu319=) rs76160162 0.00410
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645 0.00410
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=) rs112249974 0.00409
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942 0.00407
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
NM_000507.4(FBP1):c.237C>T (p.Asn79=) rs201591116 0.00398
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_002637.4(PHKA1):c.492C>T (p.Phe164=) rs149354112 0.00383
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405 0.00373
NM_000199.5(SGSH):c.249+25G>T rs200104349 0.00372
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_000507.4(FBP1):c.865A>T (p.Met289Leu) rs145771944 0.00369
NM_004130.4(GYG1):c.608+14G>C rs200902926 0.00366
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822 0.00364
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018 0.00357
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169 0.00351
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_000108.5(DLD):c.1236+13A>G rs2701026 0.00341
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825 0.00332
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) rs143983247 0.00332
NM_000642.3(AGL):c.3260-20T>C rs17121560 0.00332
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00329
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=) rs202182837 0.00329
NM_016219.5(MAN1B1):c.1896+7A>G rs143544706 0.00329
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00327
NM_016219.5(MAN1B1):c.220-20A>C rs116149955 0.00326
NM_016219.5(MAN1B1):c.1897-12G>A rs76740252 0.00322
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_001739.2(CA5A):c.340+20C>G rs141166711 0.00319
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_001352514.2(HLCS):c.1893-6C>T rs139904712 0.00313
NM_000284.4(PDHA1):c.510+12C>T rs201869402 0.00312
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) rs142892564 0.00309
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_000512.5(GALNS):c.759-67G>A rs565875595 0.00305
NM_016219.5(MAN1B1):c.1065+16T>A rs200957986 0.00303
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_000154.2(GALK1):c.1107+5G>A rs201663491 0.00297
NM_000292.3(PHKA2):c.2806+13C>A rs186550641 0.00296
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904 0.00293
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_001352514.2(HLCS):c.2451-19C>T rs78671947 0.00290
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000294.3(PHKG2):c.927+17C>G rs143558058 0.00288
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_001008216.2(GALE):c.873+20C>T rs141022680 0.00283
NM_024989.4(PGAP1):c.906T>C (p.Leu302=) rs138525017 0.00283
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538 0.00279
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_022042.4(SLC26A1):c.*877C>T rs200911718 0.00276
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_053013.4(ENO3):c.1067+18C>T rs191862496 0.00268
NM_000292.3(PHKA2):c.3282+13G>A rs200925279 0.00267
NM_001040716.2(PC):c.321+5G>A rs200766019 0.00264
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351 0.00262
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_000293.3(PHKB):c.1127-14A>G rs185628131 0.00258
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297 0.00252
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154 0.00252
NM_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018 0.00250
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_152419.3(HGSNAT):c.234+14C>G rs146429523 0.00245
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628 0.00240
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala) rs142034171 0.00237
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354 0.00232
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00230
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524 0.00228
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422 0.00222
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter) rs141733590 0.00217
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=) rs61732499 0.00216
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=) rs141112920 0.00215
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00212
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=) rs144271949 0.00210
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970 0.00208
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004 0.00208
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
NM_000293.3(PHKB):c.1446G>A (p.Arg482=) rs149812232 0.00206
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352 0.00205
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521 0.00203
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205 0.00200
NM_001739.2(CA5A):c.882G>A (p.Ala294=) rs150891997 0.00200
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888 0.00197
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049 0.00192
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097 0.00191
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00190
NM_053013.4(ENO3):c.828C>T (p.Leu276=) rs35119507 0.00190
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_004130.4(GYG1):c.609G>A (p.Val203=) rs75445811 0.00188
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265 0.00187
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_001008216.2(GALE):c.237+11G>A rs201276934 0.00183
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000202.8(IDS):c.418+12T>C rs470986 0.00178
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00177
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser) rs201961848 0.00176
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845 0.00173
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001 0.00173
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213 0.00170
NM_001008216.2(GALE):c.529-12C>T rs369293480 0.00169
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166 0.00164
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_021957.4(GYS2):c.1389T>C (p.Ile463=) rs146434233 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000108.5(DLD):c.338-18T>A rs184851386 0.00160
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513 0.00158
NM_001008216.2(GALE):c.709+18G>A rs200584878 0.00158
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_000203.5(IDUA):c.493+10C>T rs200000194 0.00156
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_001040716.2(PC):c.2223+19C>T rs45457699 0.00153
NM_031229.4(RBCK1):c.168-20G>T rs149174797 0.00153
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018 0.00151
NM_000642.3(AGL):c.3792A>T (p.Gly1264=) rs148606237 0.00151
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_006859.4(LIAS):c.393+8C>A rs201574806 0.00149
NM_000147.5(FUCA1):c.389+14C>T rs553138426 0.00148
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00148
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_024989.4(PGAP1):c.1351-16A>G rs377329019 0.00148
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_001040716.2(PC):c.951C>T (p.His317=) rs142309583 0.00147
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537 0.00146
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127 0.00145
NM_005609.4(PYGM):c.424+17G>A rs202244109 0.00145
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_000154.2(GALK1):c.611+18C>T rs188851202 0.00140
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00136
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=) rs139852230 0.00136
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369 0.00135
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_053013.4(ENO3):c.417G>A (p.Gly139=) rs142390642 0.00133
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_001739.2(CA5A):c.788G>A (p.Arg263His) rs201195769 0.00131
NM_024989.4(PGAP1):c.649+11T>A rs181229301 0.00131
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_053013.4(ENO3):c.1176+8T>C rs111926990 0.00128
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948 0.00126
NM_000292.3(PHKA2):c.1964-7A>G rs376658808 0.00126
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617 0.00121
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243 0.00120
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) rs200537357 0.00120
NM_000292.3(PHKA2):c.2956G>A (p.Glu986Lys) rs144570979 0.00119
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394 0.00118
NM_000512.5(GALNS):c.566+5T>C rs3743545 0.00118
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001 0.00116
NM_002637.4(PHKA1):c.864+11A>G rs181490917 0.00116
NM_024989.4(PGAP1):c.1729-12G>A rs75342998 0.00116
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000292.3(PHKA2):c.2568G>T (p.Pro856=) rs141034910 0.00115
NM_000642.3(AGL):c.2949+20C>T rs201729914 0.00114
NM_000154.2(GALK1):c.1167G>A (p.Val389=) rs150586960 0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_005566.4(LDHA):c.183G>A (p.Glu61=) rs149588992 0.00113
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568 0.00109
NM_002103.5(GYS1):c.234A>G (p.Glu78=) rs146683677 0.00107
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158 0.00106
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977 0.00106
NM_000292.3(PHKA2):c.3336+17G>A rs199840021 0.00106
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00106
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_001352514.2(HLCS):c.2121+11T>A rs371974889 0.00105
NM_000035.4(ALDOB):c.324+8C>G rs118168553 0.00103
NM_001040716.2(PC):c.1604-17G>A rs79317761 0.00103
NM_000292.3(PHKA2):c.1767A>G (p.Leu589=) rs148153758 0.00102
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_001040716.2(PC):c.1513+13del rs755170894 0.00099
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=) rs148981522 0.00094
NM_000292.3(PHKA2):c.1042-17A>G rs368817576 0.00093
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_004130.4(GYG1):c.439A>G (p.Asn147Asp) rs140175164 0.00092
NM_021957.4(GYS2):c.1701G>A (p.Leu567=) rs78337075 0.00092
NM_031229.4(RBCK1):c.1030-18G>A rs369024234 0.00092
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390 0.00091
NM_002637.4(PHKA1):c.238-4G>A rs782186877 0.00089
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667 0.00088
NM_000108.5(DLD):c.1464+11A>G rs184949878 0.00088
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611 0.00088
NM_000293.3(PHKB):c.2532G>A (p.Glu844=) rs140117779 0.00088
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953 0.00088
NM_000151.4(G6PC1):c.562+10G>A rs199505156 0.00087
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967 0.00086
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_031229.4(RBCK1):c.1453-10C>T rs112086441 0.00086
NM_000203.5(IDUA):c.1190-19G>C rs1285206431 0.00085
NM_001739.2(CA5A):c.555+12C>G rs183776303 0.00085
NM_003384.3(VRK1):c.286+12A>G rs376603491 0.00085
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556 0.00083
NM_000292.3(PHKA2):c.2172T>C (p.Ser724=) rs144151433 0.00083
NM_001040716.2(PC):c.904-17C>T rs199565222 0.00083
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603 0.00082
NM_000152.5(GAA):c.1755-18T>C rs201399518 0.00082
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_000292.3(PHKA2):c.3112-14T>C rs371304628 0.00081
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) rs139136352 0.00081
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00081
NM_031229.4(RBCK1):c.150C>T (p.Ser50=) rs149008463 0.00081
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000202.8(IDS):c.1181-13C>T rs188486717 0.00078
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000507.4(FBP1):c.345G>A (p.Val115=) rs61753273 0.00078
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_001931.5(DLAT):c.506+11C>T rs77846695 0.00077
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699 0.00076
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_000292.3(PHKA2):c.1635C>G (p.Ile545Met) rs148176463 0.00075
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=) rs139564374 0.00073
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00072
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230 0.00072
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=) rs150671256 0.00070
NM_031229.4(RBCK1):c.1257C>T (p.Ala419=) rs151306710 0.00070
NM_021957.4(GYS2):c.304-17T>C rs3765094 0.00067
NM_000035.4(ALDOB):c.325-19T>G rs200798661 0.00066
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000404.4(GLB1):c.1833G>A (p.Ser611=) rs201755284 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582 0.00066
NM_001040716.2(PC):c.2856C>T (p.Ile952=) rs183661331 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_000154.2(GALK1):c.611+9C>T rs370204015 0.00064
NM_016219.5(MAN1B1):c.1765-17C>T rs569907992 0.00064
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000262.3(NAGA):c.760-7C>A rs150693978 0.00063
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573 0.00063
NM_000507.4(FBP1):c.334-15T>C rs370920869 0.00063
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707 0.00063
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu) rs200505085 0.00063
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala) rs201838518 0.00062
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 0.00061
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000293.3(PHKB):c.3267G>A (p.Pro1089=) rs146134171 0.00061
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572 0.00061
NM_002294.3(LAMP2):c.504C>T (p.Tyr168=) rs150520869 0.00060
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641 0.00059
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232 0.00057
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000642.3(AGL):c.3084-8T>C rs186402161 0.00056
NM_002637.4(PHKA1):c.2918-4A>G rs184136158 0.00056
NM_005908.4(MANBA):c.2014+14C>T rs192469727 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_002637.4(PHKA1):c.2229+15G>T rs552106907 0.00055
NM_002863.5(PYGL):c.1827+11T>A rs189147741 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_005908.4(MANBA):c.2415+19G>A rs148719555 0.00054
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=) rs139774349 0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) rs200831987 0.00052
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014 0.00052
NM_000035.4(ALDOB):c.799+11C>T rs182245025 0.00051
NM_001931.5(DLAT):c.1815-15T>C rs192297571 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_002103.5(GYS1):c.492+9C>T rs191213443 0.00050
NM_000199.5(SGSH):c.746-16C>T rs376577518 0.00049
NM_000891.3(KCNJ2):c.1044C>T (p.Tyr348=) rs146330042 0.00049
NM_012434.5(SLC17A5):c.1112-18A>G rs751782561 0.00049
NM_002637.4(PHKA1):c.1740A>G (p.Ser580=) rs143064948 0.00047
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721 0.00046
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812 0.00045
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr) rs149276836 0.00045
NM_024989.4(PGAP1):c.1220+19T>C rs142559942 0.00043
NM_000147.5(FUCA1):c.969+18T>A rs140246387 0.00041
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076 0.00041
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00041
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser) rs147312612 0.00041
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331 0.00040
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) rs140138702 0.00040
NM_000292.3(PHKA2):c.1579C>G (p.Gln527Glu) rs17856445 0.00039
NM_000340.2(SLC2A2):c.963+14C>T rs189551647 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167 0.00038
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792 0.00038
NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr) rs150445034 0.00037
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028 0.00036
NM_000284.4(PDHA1):c.899+12G>A rs376730441 0.00036
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650 0.00036
NM_001739.2(CA5A):c.172G>A (p.Val58Met) rs200539625 0.00036
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891 0.00035
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198 0.00035
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=) rs139927561 0.00034
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644 0.00033
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775 0.00033
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838 0.00032
NM_000294.3(PHKG2):c.21G>A (p.Pro7=) rs200427925 0.00032
NM_001352514.2(HLCS):c.1621-12T>C rs367728041 0.00032
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842 0.00032
NM_024989.4(PGAP1):c.2630+15T>C rs375452864 0.00032
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445 0.00031
NM_005609.4(PYGM):c.1519-12G>A rs373078258 0.00031
NM_021957.4(GYS2):c.1251C>T (p.Asn417=) rs139882761 0.00031
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000925.4(PDHB):c.204+9A>C rs202068841 0.00029
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026 0.00028
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000155.4(GALT):c.253-5G>A rs762136953 0.00026
NM_000284.4(PDHA1):c.117+19T>A rs373859720 0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=) rs185126699 0.00026
NM_000507.4(FBP1):c.906C>T (p.Ala302=) rs28369776 0.00026
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_004130.4(GYG1):c.60G>A (p.Leu20=) rs145419359 0.00026
NM_000340.2(SLC2A2):c.216C>T (p.Tyr72=) rs139231189 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_000528.4(MAN2B1):c.1419+16C>A rs572897959 0.00024
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=) rs138877244 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_016219.5(MAN1B1):c.1445+19C>T rs374413288 0.00024
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) rs143474305 0.00023
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=) rs369973813 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00023
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_004130.4(GYG1):c.1041T>A (p.Thr347=) rs202027758 0.00023
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784 0.00023
NM_000284.4(PDHA1):c.899+18G>A rs370785632 0.00022
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) rs142941035 0.00022
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356 0.00021
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=) rs143689867 0.00021
NM_004130.4(GYG1):c.829-13G>A rs188887329 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_001360016.2(G6PD):c.486-14C>T rs200833520 0.00020
NM_002863.5(PYGL):c.691G>A (p.Val231Met) rs148378112 0.00020
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000528.4(MAN2B1):c.1110-15C>T rs202085731 0.00019
NM_001040716.2(PC):c.1683G>A (p.Pro561=) rs113071273 0.00019
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_152419.3(HGSNAT):c.493+13T>A rs201688937 0.00019
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171 0.00018
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000289.6(PFKM):c.844-17T>A rs372870462 0.00018
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602 0.00018
NM_006765.4(TUSC3):c.568-15A>G rs186717319 0.00018
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_001360016.2(G6PD):c.381C>T (p.Ala127=) rs781997962 0.00017
NM_000152.5(GAA):c.2799+19G>A rs558187268 0.00016
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys) rs142248439 0.00016
NM_000202.8(IDS):c.41G>A (p.Gly14Asp) rs373389352 0.00016
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00016
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00016
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515 0.00016
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_003384.3(VRK1):c.710-13C>T rs374386994 0.00016
NM_021957.4(GYS2):c.1063-15C>G rs150691568 0.00016
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val) rs138036688 0.00016
NM_000046.5(ARSB):c.750A>G (p.Glu250=) rs200985327 0.00015
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915 0.00015
NM_000155.4(GALT):c.564+15G>A rs111033732 0.00015
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763 0.00015
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847 0.00014
NM_000284.4(PDHA1):c.1008+7T>G rs768994523 0.00014
NM_000293.3(PHKB):c.76+2537G>A rs145777693 0.00014
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=) rs148720069 0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
NM_001040716.2(PC):c.1494A>G (p.Gln498=) rs761935997 0.00014
NM_002294.3(LAMP2):c.1093+2478A>G rs140936359 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298 0.00014
NM_031229.4(RBCK1):c.957G>A (p.Ala319=) rs148685980 0.00014
NM_152419.3(HGSNAT):c.821-28T>C rs201415703 0.00014
NM_000155.4(GALT):c.507+12C>T rs199572263 0.00013
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000284.4(PDHA1):c.292-5C>T rs191666624 0.00013
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=) rs748792637 0.00013
NM_002637.4(PHKA1):c.718-12C>A rs782227106 0.00013
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_024989.4(PGAP1):c.1848T>C (p.Ser616=) rs374678391 0.00013
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263 0.00012
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654 0.00012
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886 0.00012
NM_000292.3(PHKA2):c.1246-12C>T rs759418361 0.00012
NM_000293.3(PHKB):c.1350C>T (p.Ile450=) rs199941695 0.00012
NM_000308.4(CTSA):c.468C>T (p.Ala156=) rs190565374 0.00012
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879 0.00012
NM_002294.3(LAMP2):c.1162G>T (p.Val388Leu) rs372906565 0.00012
NM_004130.4(GYG1):c.499C>T (p.Leu167=) rs551623234 0.00012
NM_021957.4(GYS2):c.1549+19G>A rs369697631 0.00012
NM_024989.4(PGAP1):c.2287-11A>G rs369759909 0.00012
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468 0.00011
NM_000202.8(IDS):c.236C>G (p.Ala79Gly) rs368513342 0.00011
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487 0.00011
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile) rs33918436 0.00011
NM_005908.4(MANBA):c.849+13A>C rs76954465 0.00011
NM_006859.4(LIAS):c.393+10G>A rs372094616 0.00011
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949 0.00011
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00010
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152 0.00010
NM_000642.3(AGL):c.2192C>T (p.Ala731Val) rs542485403 0.00010
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) rs200111236 0.00010
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_031229.4(RBCK1):c.1308+20G>A rs141923181 0.00010
NM_000027.4(AGA):c.807-12dup rs749999445 0.00009
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311 0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00009
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626 0.00009
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000284.4(PDHA1):c.118-17A>G rs749601456 0.00009
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708 0.00009
NM_000404.4(GLB1):c.1192A>G (p.Ile398Val) rs199692082 0.00009
NM_000404.4(GLB1):c.1234-17A>T rs185922201 0.00009
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958 0.00009
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929 0.00009
NM_001040716.2(PC):c.2586T>C (p.Tyr862=) rs191620803 0.00009
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126 0.00009
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys) rs752321157 0.00009
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292 0.00008
NM_000284.4(PDHA1):c.418+8G>A rs779583146 0.00008
NM_000284.4(PDHA1):c.708G>A (p.Ala236=) rs750307419 0.00008
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007 0.00008
NM_000507.4(FBP1):c.826-9G>C rs200948424 0.00008
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=) rs199592101 0.00008
NM_001360016.2(G6PD):c.120+7A>C rs369904290 0.00008
NM_002076.4(GNS):c.193-9C>T rs372633889 0.00008
NM_002103.5(GYS1):c.987C>T (p.Ala329=) rs180906371 0.00008
NM_021957.4(GYS2):c.615C>T (p.His205=) rs569279347 0.00008
NM_031229.4(RBCK1):c.738G>T (p.Ala246=) rs2281553 0.00008
NM_000027.4(AGA):c.622+20G>T rs200102826 0.00007
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=) rs773338429 0.00007
NM_000284.4(PDHA1):c.217C>A (p.Arg73=) rs761538559 0.00007
NM_000292.3(PHKA2):c.1793+18T>A rs567115484 0.00007
NM_001040716.2(PC):c.322-10C>T rs371834866 0.00007
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298 0.00007
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) rs751094298 0.00007
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00006
NM_000202.8(IDS):c.27C>T (p.Gly9=) rs782412902 0.00006
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00006
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643 0.00006
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462 0.00006
NM_000507.4(FBP1):c.798C>T (p.Pro266=) rs142811660 0.00006
NM_000512.5(GALNS):c.887C>T (p.Ala296Val) rs200371805 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00006
NM_001040716.2(PC):c.3042C>T (p.Pro1014=) rs370090137 0.00006
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968 0.00006
NM_001739.2(CA5A):c.543C>T (p.Gly181=) rs534860826 0.00006
NM_002076.4(GNS):c.876-13T>C rs543570530 0.00006
NM_002294.3(LAMP2):c.1094-4C>T rs768756537 0.00006
NM_002863.5(PYGL):c.1617G>A (p.Lys539=) rs17721570 0.00006
NM_005566.4(LDHA):c.710+9T>A rs182873744 0.00006
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346 0.00006
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 0.00006
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000202.8(IDS):c.1158C>T (p.Ser386=) rs372340411 0.00005
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858 0.00005
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000202.8(IDS):c.868G>A (p.Val290Met) rs782479238 0.00005
NM_000202.8(IDS):c.894G>A (p.Gln298=) rs781812519 0.00005
NM_000284.4(PDHA1):c.1009-9A>C rs372177460 0.00005
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.759+10C>G rs375488072 0.00005
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=) rs67120636 0.00005
NM_001014436.3(DBNL):c.*2017A>G rs367994618 0.00005
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser) rs782308530 0.00005
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) rs781917123 0.00005
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) rs397516735 0.00005
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000202.8(IDS):c.1290G>A (p.Glu430=) rs140633427 0.00004
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132 0.00004
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000292.3(PHKA2):c.3327G>A (p.Thr1109=) rs768419165 0.00004
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys) rs370276057 0.00004
NM_000642.3(AGL):c.2280C>T (p.Ser760=) rs373513564 0.00004
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.929-5T>C rs375341409 0.00004
NM_002637.4(PHKA1):c.750A>G (p.Ser250=) rs201801654 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=) rs910605187 0.00004
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) rs201735117 0.00004
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251 0.00004
NM_000147.5(FUCA1):c.67G>C (p.Gly23Arg) rs551560114 0.00003
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353 0.00003
NM_000181.4(GUSB):c.633C>T (p.Tyr211=) rs140278510 0.00003
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954 0.00003
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000284.4(PDHA1):c.390C>T (p.Ser130=) rs756138817 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000294.3(PHKG2):c.802-17C>T rs772388120 0.00003
NM_000891.3(KCNJ2):c.225G>A (p.Thr75=) rs192172778 0.00003
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu) rs534858065 0.00003
NM_002294.3(LAMP2):c.1094-16C>T rs772976829 0.00003
NM_002294.3(LAMP2):c.300G>A (p.Ala100=) rs765548221 0.00003
NM_002294.3(LAMP2):c.750A>C (p.Ser250=) rs765836082 0.00003
NM_152419.3(HGSNAT):c.1542+20C>T rs548171657 0.00003
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815 0.00003
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000202.8(IDS):c.1113G>A (p.Pro371=) rs146615651 0.00002
NM_000202.8(IDS):c.1347G>A (p.Glu449=) rs782690963 0.00002
NM_000202.8(IDS):c.177G>A (p.Val59=) rs782743276 0.00002
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858 0.00002
NM_000284.4(PDHA1):c.327C>T (p.Asn109=) rs772943333 0.00002
NM_000284.4(PDHA1):c.759+9A>G rs2643456 0.00002
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=) rs544384907 0.00002
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val) rs201967384 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
NM_002103.5(GYS1):c.1020C>T (p.Asp340=) rs13306415 0.00002
NM_002294.3(LAMP2):c.1125C>T (p.Phe375=) rs746288560 0.00002
NM_002294.3(LAMP2):c.557-12C>T rs756269189 0.00002
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln) rs750118236 0.00002
NM_002294.3(LAMP2):c.797G>A (p.Arg266His) rs200934351 0.00002
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys) rs574635615 0.00001
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795 0.00001
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518 0.00001
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300 0.00001
NM_000202.8(IDS):c.1181-15C>T rs199965368 0.00001
NM_000202.8(IDS):c.13C>T (p.Arg5Trp) rs141900718 0.00001
NM_000203.5(IDUA):c.1525-7C>A rs184807155 0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 0.00001
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=) rs749696135 0.00001
NM_000284.4(PDHA1):c.292-11C>T rs776535833 0.00001
NM_000284.4(PDHA1):c.522C>T (p.Gly174=) rs769308417 0.00001
NM_000284.4(PDHA1):c.899+10T>C rs1471723235 0.00001
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) rs554664722 0.00001
NM_000293.3(PHKB):c.3144+9A>C rs200504388 0.00001
NM_000293.3(PHKB):c.595-5T>G rs369184808 0.00001
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00001
NM_000343.4(SLC5A1):c.373-13G>A rs201398293 0.00001
NM_000343.4(SLC5A1):c.373-9C>T rs199690019 0.00001
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00001
NM_000891.3(KCNJ2):c.1035C>T (p.His345=) rs201747514 0.00001
NM_000925.4(PDHB):c.43-18T>C rs548113809 0.00001
NM_001040716.2(PC):c.2535C>T (p.Tyr845=) rs534635326 0.00001
NM_001040716.2(PC):c.3234T>C (p.Phe1078=) rs531640812 0.00001
NM_001040716.2(PC):c.634-5C>T rs373145902 0.00001
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile) rs561701030 0.00001
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=) rs752231323 0.00001
NM_002637.4(PHKA1):c.2370-14C>T rs782784720 0.00001
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys) rs142784073 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) rs371264447 0.00001
NM_005609.4(PYGM):c.1240-16G>A rs573898801 0.00001
NM_005908.4(MANBA):c.1512G>A (p.Thr504=) rs143694332 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976 0.00001
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln) rs780864954 0.00001
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg) rs1280299073 0.00001
NM_021957.4(GYS2):c.942-7del rs537907545 0.00001
NM_198586.3(NHLRC1):c.504G>T (p.Gly168=) rs529490452 0.00001
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+10dup rs761207366
NM_000027.4(AGA):c.395-12del
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-11_623-10del
NM_000027.4(AGA):c.623-21dup rs745896951
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000035.4(ALDOB):c.400C>A (p.Arg134Ser) rs10123355
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.5(ARSB):c.1081G>T (p.Ala361Ser)
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1337-15del
NM_000046.5(ARSB):c.312+15del
NM_000046.5(ARSB):c.690+9del rs2112513488
NM_000108.5(DLD):c.1237-15_1237-14del
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.40-5del
NM_000108.5(DLD):c.439-7del
NM_000108.5(DLD):c.685-14del rs759170630
NM_000147.5(FUCA1):c.1017T>C (p.Ile339=)
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.5(FUCA1):c.389+18del
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000152.5(GAA):c.1194+11del rs2143856264
NM_000152.5(GAA):c.1326+12del
NM_000152.5(GAA):c.1377C>T (p.Asp459=) rs778121058
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1551+15del
NM_000152.5(GAA):c.1637-12dup
NM_000152.5(GAA):c.2041-14del
NM_000152.5(GAA):c.2041-14dup
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000154.2(GALK1):c.165+8dup
NM_000155.4(GALT):c.253-11C>T
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000158.4(GBE1):c.1000= (p.Ile334=)
NM_000158.4(GBE1):c.1010T>A (p.Phe337Tyr)
NM_000158.4(GBE1):c.1109-6del rs747483974
NM_000158.4(GBE1):c.555+14del rs573234623
NM_000181.4(GUSB):c.1476+13del rs2115900599
NM_000181.4(GUSB):c.1476+13dup
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.397-20dup rs765594686
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.1181-14G>A
NM_000202.8(IDS):c.1327C>A (p.Arg443=)
NM_000202.8(IDS):c.1548C>T (p.Asp516=)
NM_000202.8(IDS):c.418+14T>C
NM_000202.8(IDS):c.418+17A>G
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-6del rs781852261
NM_000202.8(IDS):c.636G>A (p.Met212Ile)
NM_000202.8(IDS):c.781C>A (p.Pro261Thr) rs141720810
NM_000202.8(IDS):c.880-11del
NM_000202.8(IDS):c.880-11dup
NM_000202.8(IDS):c.880-4G>A
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1190-11_1190-10dup rs150523349
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1727+21del
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.589+20dup
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.590-8del
NM_000203.5(IDUA):c.590-8dup
NM_000203.5(IDUA):c.99T>A (p.His33Gln)
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.597+18dup rs553359794
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile) rs578127376
NM_000263.4(NAGLU):c.1021+15T>C rs149434978
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.383+10del
NM_000263.4(NAGLU):c.764+20del
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=) rs764728647
NM_000284.4(PDHA1):c.1009-17_1009-14dup rs1569193999
NM_000284.4(PDHA1):c.1009-31_1009-15del
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)
NM_000284.4(PDHA1):c.117+17T>G
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.58-18A>C
NM_000284.4(PDHA1):c.604-14G>A rs377192586
NM_000284.4(PDHA1):c.759+18GGGGCC[3]
NM_000284.4(PDHA1):c.759+21dup
NM_000284.4(PDHA1):c.759+26GGCCAA[2] rs11278403
NM_000284.4(PDHA1):c.759+26GGCCAA[4] rs11278403
NM_000284.4(PDHA1):c.759+34_759+45del rs11278403
NM_000284.4(PDHA1):c.760-14_760-13del
NM_000284.4(PDHA1):c.760-14dup
NM_000284.4(PDHA1):c.832-14C>T
NM_000284.4(PDHA1):c.900-18_900-14dup
NM_000284.4(PDHA1):c.900-8C>G
NM_000289.6(PFKM):c.1063-5del
NM_000289.6(PFKM):c.1063-5dup
NM_000289.6(PFKM):c.1341+8del rs2135995386
NM_000289.6(PFKM):c.1413-19G>A
NM_000289.6(PFKM):c.1881-17del
NM_000289.6(PFKM):c.1992+14C>A
NM_000289.6(PFKM):c.2092+10del
NM_000289.6(PFKM):c.85+22dup
NM_000292.3(PHKA2):c.1715-14C>T
NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)
NM_000292.3(PHKA2):c.2806+16C>T
NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)
NM_000293.3(PHKB):c.1204+16del
NM_000293.3(PHKB):c.2197-17G>A
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2766-14G>T rs375250621
NM_000293.3(PHKB):c.2858C>T (p.Pro953Leu)
NM_000293.3(PHKB):c.2896-4dup
NM_000293.3(PHKB):c.3144+33_3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+34del rs5816579
NM_000293.3(PHKB):c.77-8dup
NM_000293.3(PHKB):c.775-18T>C
NM_000294.3(PHKG2):c.647+20del
NM_000308.4(CTSA):c.195-7dup rs780400265
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) rs72555383
NM_000308.4(CTSA):c.693-11_693-9del rs560285370
NM_000308.4(CTSA):c.846T>C (p.Ala282=)
NM_000308.4(CTSA):c.870-15del rs3215446
NM_000308.4(CTSA):c.948+13G>T rs199925152
NM_000340.2(SLC2A2):c.1171-7del
NM_000343.4(SLC5A1):c.1130-10_1130-8del rs770678836
NM_000343.4(SLC5A1):c.1771+3G>A
NM_000343.4(SLC5A1):c.1772-6G>A rs201685531
NM_000343.4(SLC5A1):c.885+20G>A
NM_000404.4(GLB1):c.1143+14del rs376544604
NM_000404.4(GLB1):c.1143+14dup rs376544604
NM_000404.4(GLB1):c.1209C>G (p.Pro403=) rs528690108
NM_000404.4(GLB1):c.1348-5dup
NM_000404.4(GLB1):c.458-13del
NM_000404.4(GLB1):c.76-16del
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.792+18G>A rs202068250
NM_000404.4(GLB1):c.793-14dup rs943395100
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000507.4(FBP1):c.705+18G>A
NM_000507.4(FBP1):c.826-15G>A rs148942437
NM_000512.5(GALNS):c.1139+20del
NM_000512.5(GALNS):c.120+13G>A
NM_000512.5(GALNS):c.121-17C>T
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947
NM_000512.5(GALNS):c.244+14del
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.633+9del
NM_000512.5(GALNS):c.759-16del
NM_000528.4(MAN2B1):c.1027-6del rs1384911711
NM_000528.4(MAN2B1):c.1231-13C>T rs372848519
NM_000528.4(MAN2B1):c.1528-11del rs2145253449
NM_000528.4(MAN2B1):c.2267+8del
NM_000528.4(MAN2B1):c.2355+20C>T
NM_000528.4(MAN2B1):c.262+17del
NM_000528.4(MAN2B1):c.2665-17del
NM_000528.4(MAN2B1):c.2923+19dup
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000642.3(AGL):c.1082+19dup
NM_000642.3(AGL):c.1283+13del rs2101128921
NM_000642.3(AGL):c.1283+22dup rs775216906
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.1424-9dup
NM_000642.3(AGL):c.1611+11del rs2101137047
NM_000642.3(AGL):c.294-8dup
NM_000642.3(AGL):c.2950-9del rs2100789612
NM_000642.3(AGL):c.3084-8del
NM_000642.3(AGL):c.3260-6del rs772280861
NM_000642.3(AGL):c.3260-6dup rs772280861
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4348-3dup rs886044921
NM_000642.3(AGL):c.460+24del
NM_000642.3(AGL):c.665-8dup
NM_000642.3(AGL):c.83-7dup
NM_000925.4(PDHB):c.700+9del
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1368+19del
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2224-3del rs1292656088
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2899-3del rs752139338
NM_001040716.2(PC):c.322-9dup rs2135941001
NM_001040716.2(PC):c.3288+14del
NM_001040716.2(PC):c.904-5dup rs2135929887
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164277.2(SLC37A4):c.1125-7dup
NM_001164277.2(SLC37A4):c.527= (p.Cys176=) rs56966114
NM_001164277.2(SLC37A4):c.626+10del
NM_001164277.2(SLC37A4):c.626+16G>A rs74673344
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.2237-7dup
NM_001352514.2(HLCS):c.2451-4del
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.645-8_645-5del rs782160396
NM_001365304.2(LOC112694756):c.*1308+17T>C rs566755208
NM_001365304.2(LOC112694756):c.*833+17C>G rs78209292
NM_001370658.1(BTD):c.-17+13C>G
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001739.2(CA5A):c.460-14C>A
NM_001931.5(DLAT):c.1399-13_1399-11del rs587691611
NM_001931.5(DLAT):c.1515-13dup
NM_001931.5(DLAT):c.1678-8del rs781833307
NM_001931.5(DLAT):c.270G>C (p.Pro90=)
NM_001931.5(DLAT):c.279+18dup
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.526-6del rs2136248435
NM_002076.4(GNS):c.625-10dup rs2136247672
NM_002076.4(GNS):c.793-15del rs754323701
NM_002076.4(GNS):c.793-15dup
NM_002103.5(GYS1):c.1423-10del
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.1749C>T (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.941+10dup
NM_002294.3(LAMP2):c.1089T>C (p.Ser363=)
NM_002294.3(LAMP2):c.742-16TCT[2] rs730880476
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.877C>A (p.Arg293=) rs727503118
NM_002294.3(LAMP2):c.929-9del rs1338648665
NM_002637.4(PHKA1):c.1042-20T>G
NM_002637.4(PHKA1):c.1401G>A (p.Glu467=) rs782491320
NM_002637.4(PHKA1):c.2365A>G (p.Met789Val)
NM_002637.4(PHKA1):c.2391A>G (p.Glu797=)
NM_002637.4(PHKA1):c.3244-12del
NM_002637.4(PHKA1):c.3244-12dup
NM_002637.4(PHKA1):c.381T>C (p.Asp127=)
NM_002637.4(PHKA1):c.459C>G (p.Leu153=)
NM_002637.4(PHKA1):c.79-5dup
NM_002863.5(PYGL):c.1093-16C>A
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.2178-11del rs1555326336
NM_002863.5(PYGL):c.2312+12T>C
NM_002863.5(PYGL):c.2380-12T>C
NM_003384.3(VRK1):c.1160-8del rs2139857568
NM_003384.3(VRK1):c.161-7dup rs1295596727
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.483+20_483+22del rs566207500
NM_004130.4(GYG1):c.452A>T (p.His151Leu) rs35054019
NM_005271.5(GLUD1):c.1198-9C>G rs201421730
NM_005271.5(GLUD1):c.1198-9C>T
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1647G>A (p.Val549=) rs756484571
NM_005271.5(GLUD1):c.582+18A>G
NM_005271.5(GLUD1):c.646+16_646+17del rs201141455
NM_005271.5(GLUD1):c.647-5C>G rs201611802
NM_005327.7(HADH):c.261+16C>T rs71601073
NM_005609.4(PYGM):c.1000-15del
NM_005609.4(PYGM):c.1093-10del
NM_005609.4(PYGM):c.1093-13dup rs1304298343
NM_005609.4(PYGM):c.1191G>A (p.Leu397=)
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005609.4(PYGM):c.1970-17dup
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.661-5del rs768761419
NM_005609.4(PYGM):c.855+13del
NM_005908.4(MANBA):c.1318-13del
NM_005908.4(MANBA):c.1485+16del rs2110216761
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1704+10C>T
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005908.4(MANBA):c.2416-11_2416-10del rs5860729
NM_005908.4(MANBA):c.2416-20dup rs5860729
NM_005908.4(MANBA):c.2473G>T (p.Ala825Ser) rs182869272
NM_005908.4(MANBA):c.273-3del
NM_005908.4(MANBA):c.273-3dup
NM_006765.4(TUSC3):c.309-15C>G
NM_006765.4(TUSC3):c.87C>T (p.Leu29=) rs78626330
NM_012434.5(SLC17A5):c.1351-15del rs1341837566
NM_012434.5(SLC17A5):c.1351-15dup
NM_012434.5(SLC17A5):c.291+16dup
NM_012434.5(SLC17A5):c.94+13del
NM_012434.5(SLC17A5):c.95-19del
NM_012434.5(SLC17A5):c.978+11dup rs2150099214
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
NM_016203.4(PRKAG2):c.1006-9del rs775574266
NM_016203.4(PRKAG2):c.1006-9dup rs775574266
NM_016203.4(PRKAG2):c.1106+10dup rs374874465
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)
NM_016203.4(PRKAG2):c.754+13dup rs747490039
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=) rs61752000
NM_016219.5(MAN1B1):c.1255-13del
NM_016219.5(MAN1B1):c.1567-18G>A
NM_016219.5(MAN1B1):c.31G>A (p.Ala11Thr)
NM_016219.5(MAN1B1):c.620+10G>A
NM_021957.4(GYS2):c.1230-14dup rs752714629
NM_021957.4(GYS2):c.496-11dup
NM_021957.4(GYS2):c.574C>A (p.Arg192=)
NM_024989.4(PGAP1):c.1273-17dup rs3835877
NM_024989.4(PGAP1):c.1273-8del rs3835877
NM_024989.4(PGAP1):c.1553-15dup
NM_024989.4(PGAP1):c.2338-19C>T
NM_024989.4(PGAP1):c.807+13del
NM_024989.4(PGAP1):c.861-14_861-11del rs751306632
NM_024989.4(PGAP1):c.927+12dup rs1162737906
NM_031229.4(RBCK1):c.1209+24del
NM_031229.4(RBCK1):c.583-17G>C
NM_031229.4(RBCK1):c.917+11dup
NM_053013.4(ENO3):c.667+24dup rs754023017
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.789G>A (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.86-3del rs151153333
NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)
NM_152419.3(HGSNAT):c.1129-7dup
NM_152419.3(HGSNAT):c.1250+19dup
NM_152419.3(HGSNAT):c.1251-12del
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.564-4dup rs748560542
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)

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