NM_000027.4(AGA):c.446C>G (p.Thr149Ser)
|
rs2228119
|
0.92759
|
NM_002591.4(PCK1):c.550G>C (p.Val184Leu)
|
rs707555
|
0.89165
|
NM_021957.4(GYS2):c.1087A>G (p.Met363Val)
|
rs2306180
|
0.74398
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala)
|
rs1801262
|
0.67693
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)
|
rs7918487
|
0.51842
|
NM_000512.5(GALNS):c.120+1532G>C
|
rs34150867
|
0.38226
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)
|
rs2229519
|
0.29724
|
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)
|
rs5400
|
0.23124
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_001365304.2(LOC112694756):c.*1508+17G>T
|
rs2071390
|
0.13976
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000155.4(GALT):c.378-27G>C
|
rs41274865
|
0.04615
|
NM_000155.4(GALT):c.508-24G>A
|
rs41274867
|
0.04612
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)
|
rs145807417
|
0.00488
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_014026.6(DCPS):c.677G>A (p.Gly226Asp)
|
rs35836343
|
0.00427
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
NM_138801.3(GALM):c.424G>A (p.Gly142Arg)
|
rs114440198
|
0.00194
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
|
rs149606212
|
0.00128
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
|
rs201186470
|
0.00113
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)
|
rs140491072
|
0.00041
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)
|
rs77373295
|
0.00029
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
NM_001370658.1(BTD):c.40_41del (p.Gly14fs)
|
rs765906887
|
0.00012
|
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)
|
rs199792389
|
0.00011
|
NM_022895.3(C12orf43):c.*2096C>T
|
rs571134960
|
0.00011
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)
|
rs768396832
|
0.00006
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)
|
rs371469177
|
0.00006
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
NM_000162.5(GCK):c.836A>G (p.Glu279Gly)
|
rs143484733
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)
|
rs373345919
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)
|
rs483353044
|
0.00003
|
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala)
|
rs758043919
|
0.00003
|
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)
|
rs193302892
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)
|
rs111033800
|
0.00002
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
0.00002
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr)
|
rs1332616844
|
0.00001
|
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)
|
rs869312919
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)
|
rs375063162
|
0.00001
|
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys)
|
rs994896967
|
0.00001
|
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His)
|
rs774651252
|
0.00001
|
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter)
|
rs779502629
|
0.00001
|
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr)
|
rs765529676
|
0.00001
|
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)
|
rs933815442
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)
|
rs1243531358
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3279+1G>A
|
rs1489634479
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn)
|
rs782317415
|
0.00001
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu)
|
rs1557230626
|
0.00001
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)
|
rs749922511
|
0.00001
|
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr)
|
rs1570620206
|
0.00001
|
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
|
rs766478634
|
0.00001
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys)
|
rs767873726
|
0.00001
|
NC_000001.10:g.100330092T>A
|
rs794729208
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del)
|
rs1553648979
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.227G>T (p.Gly76Val)
|
rs764779161
|
|
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)
|
rs1310996698
|
|
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)
|
rs2112530498
|
|
NM_000046.5(ARSB):c.427del (p.Val143fs)
|
rs766914147
|
|
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile)
|
rs2112211996
|
|
NM_000151.4(G6PC1):c.511del (p.Ile171fs)
|
rs1597990895
|
|
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr)
|
rs1597990906
|
|
NM_000151.4(G6PC1):c.563-3C>G
|
rs1597991608
|
|
NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter)
|
rs2151929089
|
|
NM_000151.4(G6PC1):c.770C>A (p.Pro257His)
|
rs1597991733
|
|
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
NM_000152.5(GAA):c.2740dup (p.Gln914fs)
|
rs745427943
|
|
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp)
|
rs915070690
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)
|
rs111033836
|
|
NM_000155.4(GALT):c.134C>A (p.Ser45Ter)
|
rs111033652
|
|
NM_000155.4(GALT):c.142C>A (p.Arg48Ser)
|
rs886042088
|
|
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
|
rs771702963
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del)
|
rs1587240095
|
|
NM_000155.4(GALT):c.895G>A (p.Gly299Ser)
|
rs1587240180
|
|
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser)
|
rs1576183537
|
|
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp)
|
rs954171452
|
|
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs)
|
rs1583592247
|
|
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter)
|
rs780612692
|
|
NM_000162.5(GCK):c.501G>C (p.Trp167Cys)
|
rs1470521850
|
|
NM_000162.5(GCK):c.917T>A (p.Leu306Gln)
|
rs193922337
|
|
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys)
|
rs1159683641
|
|
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser)
|
rs1583946993
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
NM_000202.8(IDS):c.418+34G>T
|
rs1463289439
|
|
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr)
|
rs1602745838
|
|
NM_000202.8(IDS):c.507+1G>A
|
rs2124055167
|
|
NM_000202.8(IDS):c.507+2T>G
|
rs2124055161
|
|
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys)
|
rs1464048268
|
|
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)
|
rs781534097
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
|
rs193922357
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)
|
rs768918822
|
|
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp)
|
rs1599253815
|
|
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val)
|
rs1599258487
|
|
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)
|
rs2147189334
|
|
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)
|
rs2063162114
|
|
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)
|
rs794729213
|
|
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)
|
rs1602228017
|
|
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys)
|
rs1603398740
|
|
NM_000292.3(PHKA2):c.1138-2A>G
|
rs1601748216
|
|
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter)
|
rs2147934341
|
|
NM_000292.3(PHKA2):c.1324+1G>A
|
rs1289077489
|
|
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)
|
rs1601781031
|
|
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)
|
rs1158193880
|
|
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)
|
rs1324893950
|
|
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs)
|
rs1601776523
|
|
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro)
|
rs797044921
|
|
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter)
|
rs1601687244
|
|
NM_000292.3(PHKA2):c.395A>C (p.His132Pro)
|
rs137852291
|
|
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro)
|
rs137852290
|
|
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys)
|
rs797045008
|
|
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu)
|
rs797044877
|
|
NM_000292.3(PHKA2):c.919-1G>A
|
rs2147954328
|
|
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter)
|
rs1292721679
|
|
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)
|
rs762089284
|
|
NM_000294.3(PHKG2):c.657del (p.Cys219fs)
|
rs1596687555
|
|
NM_000294.3(PHKG2):c.927+1G>A
|
rs1445993948
|
|
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro)
|
rs927157864
|
|
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs)
|
rs1455367784
|
|
NM_000352.6(ABCC8):c.598del (p.Thr200fs)
|
rs1591890137
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000402.4(G6PD):c.683G>A (p.Arg228His)
|
rs137852332
|
|
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
|
|
|
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
|
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)
|
rs1248299502
|
|
NM_000512.5(GALNS):c.1243-2A>C
|
rs2142992422
|
|
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)
|
rs727503946
|
|
NM_000512.5(GALNS):c.426T>A (p.His142Gln)
|
rs754616917
|
|
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)
|
rs794729202
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
NM_000545.8(HNF1A):c.1136del (p.Pro379fs)
|
rs1593060859
|
|
NM_000642.2(AGL):c.[1283G>A];[611T>A]
|
|
|
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser)
|
rs1570442236
|
|
NM_000642.3(AGL):c.1900-13T>A
|
rs533280246
|
|
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter)
|
rs1570445130
|
|
NM_000642.3(AGL):c.2433+2T>C
|
rs2100768436
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.2950-1G>C
|
rs1057516793
|
|
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter)
|
rs370202718
|
|
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile)
|
rs1570487362
|
|
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter)
|
rs1570487381
|
|
NM_000642.3(AGL):c.4221del (p.Lys1407fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter)
|
rs1571232325
|
|
NM_000642.3(AGL):c.74_75del (p.Leu25fs)
|
rs2101053661
|
|
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys)
|
rs1358651584
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
NM_001040716.2(PC):c.815A>G (p.Gln272Arg)
|
rs1591186383
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)
|
rs121908977
|
|
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)
|
rs1174060268
|
|
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr)
|
rs2145731903
|
|
NM_001358263.1(HK1):c.-270G>C
|
rs397514654
|
|
NM_001358263.1(HK1):c.1A>G (p.Met1Val)
|
rs1589439508
|
|
NM_001358263.1(HK1):c.1A>T (p.Met1Leu)
|
rs1589439508
|
|
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu)
|
rs2148328905
|
|
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys)
|
rs137852325
|
|
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)
|
rs1603411214
|
|
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)
|
rs1344607767
|
|
NM_001370658.1(BTD):c.203del (p.Gln68fs)
|
rs1575013953
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)
|
rs750965140
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)
|
rs1575029719
|
|
NM_001370658.1(BTD):c.798del (p.Ala267fs)
|
rs1575029897
|
|
NM_002294.3(LAMP2):c.436_440dup (p.Leu147fs)
|
rs2147283096
|
|
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter)
|
rs2147781328
|
|
NM_002637.4(PHKA1):c.919-2A>G
|
rs2147766482
|
|
NM_002863.5(PYGL):c.1404-1G>A
|
rs750567664
|
|
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys)
|
rs150483902
|
|
NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter)
|
rs606231310
|
|
NM_004563.4(PCK2):c.460_461insCTGTGGATGAGAG (p.Gly154fs)
|
rs771187723
|
|
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)
|
rs121909734
|
|
NM_005327.7(HADH):c.261+1G>A
|
rs1398546361
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.636+2_636+3insCT
|
rs2126234552
|
|
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del)
|
rs1592409633
|
|
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs)
|
rs1592408302
|
|
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs)
|
rs2124446490
|
|
NM_006516.4(SLC2A1):c.115-2A>C
|
rs2124450950
|
|
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs)
|
rs2124446305
|
|
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs)
|
rs2124445661
|
|
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)
|
rs2124478725
|
|
NM_006516.4(SLC2A1):c.274del (p.Arg92fs)
|
rs1570593820
|
|
NM_006516.4(SLC2A1):c.29del (p.Gly10fs)
|
rs2124461926
|
|
NM_006516.4(SLC2A1):c.37dup (p.Met13fs)
|
rs2124461913
|
|
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs)
|
rs1570601060
|
|
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val)
|
rs2124449452
|
|
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter)
|
rs1570592933
|
|
NM_006516.4(SLC2A1):c.624del (p.Glu209fs)
|
rs1570592844
|
|
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter)
|
rs1387203768
|
|
NM_006516.4(SLC2A1):c.635del (p.Arg212fs)
|
rs2124449287
|
|
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
|
rs794729221
|
|
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)
|
rs2124449015
|
|
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)
|
rs796053254
|
|
NM_006721.4(ADK):c.1031C>T (p.Ala344Val)
|
rs1589387419
|
|
NM_006721.4(ADK):c.727-8del
|
rs112610475
|
|
NM_012203.2(GRHPR):c.83+52del
|
rs35891798
|
|
NM_014168.4(METTL5):c.591+2T>G
|
rs1400976065
|
|
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter)
|
rs1377102705
|
|
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter)
|
rs1576164991
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del)
|
rs2122282189
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter)
|
rs2146127862
|
|
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)
|
rs776489992
|
|
NM_175914.5(HNF4A):c.950T>G (p.Leu317Arg)
|
rs2146468685
|
|