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
|
|
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NM_021957.4(GYS2):c.574C>A (p.Arg192=)
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|
|
NM_024989.4(PGAP1):c.1273-17dup
|
rs3835877
|
|
NM_024989.4(PGAP1):c.1273-8del
|
rs3835877
|
|
NM_024989.4(PGAP1):c.1553-15dup
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NM_024989.4(PGAP1):c.2338-19C>T
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NM_024989.4(PGAP1):c.807+13del
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|
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NM_024989.4(PGAP1):c.861-14_861-11del
|
rs751306632
|
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NM_024989.4(PGAP1):c.927+12dup
|
rs1162737906
|
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NM_031229.4(RBCK1):c.1209+24del
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|
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NM_031229.4(RBCK1):c.583-17G>C
|
|
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NM_031229.4(RBCK1):c.917+11dup
|
|
|
NM_053013.4(ENO3):c.667+24dup
|
rs754023017
|
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NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup)
|
rs548538086
|
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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
|
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NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)
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|
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NM_152419.3(HGSNAT):c.1129-7dup
|
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NM_152419.3(HGSNAT):c.1250+19dup
|
|
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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
|
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NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
|
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