NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NC_000008.11:g.11573132C>T
|
rs61199332
|
0.06287
|
NM_001360016.2(G6PD):c.486-60C>G
|
rs2515904
|
0.04673
|
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)
|
rs2230036
|
0.03373
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
NM_000545.8(HNF1A):c.1720= (p.Ser574=)
|
rs1169305
|
0.01390
|
NM_003597.5(KLF11):c.659C>T (p.Thr220Met)
|
rs34336420
|
0.01310
|
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
|
rs2229137
|
0.00715
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)
|
rs61742739
|
0.00531
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_001715.3(BLK):c.*338T>G
|
rs1042695
|
0.00399
|
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_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_138801.3(GALM):c.424G>A (p.Gly142Arg)
|
rs114440198
|
0.00194
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
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_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)
|
rs28940885
|
0.00121
|
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
|
rs201186470
|
0.00113
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)
|
rs79717168
|
0.00108
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter)
|
rs121908936
|
0.00086
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_013276.4(SHPK):c.355C>T (p.Arg119Ter)
|
rs144071313
|
0.00058
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)
|
rs201428088
|
0.00029
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)
|
rs77938727
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)
|
rs121918403
|
0.00019
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
0.00017
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000434.4(NEU1):c.649G>A (p.Val217Met)
|
rs28940583
|
0.00017
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_004130.4(GYG1):c.143+3G>C
|
rs370652040
|
0.00016
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_016286.4(DCXR):c.52+1G>A
|
rs375243154
|
0.00015
|
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)
|
rs118204430
|
0.00013
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)
|
rs121918404
|
0.00012
|
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met)
|
rs764877688
|
0.00012
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_001739.2(CA5A):c.555G>A (p.Lys185=)
|
rs147623570
|
0.00011
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_006488.3(KHK):c.127G>A (p.Ala43Thr)
|
rs104893644
|
0.00010
|
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)
|
rs111033608
|
0.00009
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
0.00009
|
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser)
|
rs121912645
|
0.00009
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)
|
rs121918419
|
0.00009
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
|
rs121909448
|
0.00009
|
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
|
rs28940576
|
0.00009
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
NM_003041.4(SLC5A2):c.500del (p.Gln167fs)
|
rs267607067
|
0.00008
|
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_198150.3(ARSK):c.250C>T (p.Arg84Cys)
|
rs147168858
|
0.00007
|
NC_000008.11:g.11474238G>A
|
rs886037620
|
0.00006
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter)
|
rs121918021
|
0.00006
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)
|
rs587777375
|
0.00006
|
NM_002863.5(PYGL):c.1620+1G>A
|
rs113993981
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_006488.3(KHK):c.118G>A (p.Gly40Arg)
|
rs104893643
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_014026.6(DCPS):c.260C>T (p.Thr87Met)
|
rs138737928
|
0.00006
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser)
|
rs121918423
|
0.00006
|
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)
|
rs770050262
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn)
|
rs137854544
|
0.00005
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)
|
rs387906861
|
0.00005
|
NM_005883.3(APC2):c.1063G>A (p.Val355Ile)
|
rs751785909
|
0.00005
|
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)
|
rs387906886
|
0.00005
|
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)
|
rs1468772495
|
0.00005
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)
|
rs118203944
|
0.00004
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)
|
rs121918172
|
0.00004
|
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)
|
rs121434533
|
0.00004
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
NM_000298.6(PKLR):c.1436G>A (p.Arg479His)
|
rs118204085
|
0.00004
|
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)
|
rs121909743
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
NM_001064.4(TKT):c.952C>T (p.Arg318Cys)
|
rs782092363
|
0.00004
|
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG
|
rs781905246
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp)
|
rs121917718
|
0.00004
|
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr)
|
rs202197769
|
0.00004
|
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro)
|
rs121918421
|
0.00004
|
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
|
rs267606764
|
0.00004
|
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
|
rs587776542
|
0.00004
|
NM_000108.5(DLD):c.1081A>G (p.Met361Val)
|
rs121964993
|
0.00003
|
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn)
|
rs387906505
|
0.00003
|
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)
|
rs80356482
|
0.00003
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000175.5(GPI):c.475G>A (p.Gly159Ser)
|
rs137853582
|
0.00003
|
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)
|
rs121918176
|
0.00003
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
NM_000207.3(INS):c.16C>T (p.Arg6Cys)
|
rs121908278
|
0.00003
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)
|
rs118204447
|
0.00003
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
|
rs747573712
|
0.00003
|
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)
|
rs267607137
|
0.00003
|
NM_001271838.2(RSRC1):c.205C>T (p.Arg69Ter)
|
rs868818936
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter)
|
rs137852546
|
0.00003
|
NM_003805.5(CRADD):c.491T>G (p.Phe164Cys)
|
rs370916968
|
0.00003
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)
|
rs748436953
|
0.00003
|
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)
|
rs1382373816
|
0.00003
|
NM_032808.7(LINGO1):c.869G>A (p.Arg290His)
|
rs757077698
|
0.00003
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
NM_000046.5(ARSB):c.1143-1G>C
|
rs431905495
|
0.00002
|
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)
|
rs118204450
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)
|
rs111033800
|
0.00002
|
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg)
|
rs267606851
|
0.00002
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)
|
rs104894642
|
0.00002
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)
|
rs121918194
|
0.00002
|
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)
|
rs121909742
|
0.00002
|
NM_000402.4(G6PD):c.944G>A (p.Arg315His)
|
rs74575103
|
0.00002
|
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
|
rs72555391
|
0.00002
|
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)
|
rs767685019
|
0.00002
|
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)
|
rs104893981
|
0.00002
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr)
|
rs137853246
|
0.00002
|
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)
|
rs763842440
|
0.00002
|
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro)
|
rs121912611
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
NM_002300.8(LDHB):c.19A>G (p.Lys7Glu)
|
rs118203897
|
0.00002
|
NM_002863.5(PYGL):c.1768+1G>A
|
rs113993982
|
0.00002
|
NM_005908.4(MANBA):c.2158-2A>G
|
rs772852668
|
0.00002
|
NM_014026.6(DCPS):c.636+1G>A
|
rs770528538
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)
|
rs767713084
|
0.00002
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp)
|
rs747620551
|
0.00002
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
NM_152419.3(HGSNAT):c.372-2A>G
|
rs483352896
|
0.00002
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)
|
rs118203942
|
0.00001
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)
|
rs121964988
|
0.00001
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)
|
rs80358199
|
0.00001
|
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter)
|
rs80358196
|
0.00001
|
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)
|
rs104894568
|
0.00001
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)
|
rs104894572
|
0.00001
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter)
|
rs137852894
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
|
rs137852887
|
0.00001
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
NM_000175.5(GPI):c.14C>T (p.Thr5Ile)
|
rs267606852
|
0.00001
|
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr)
|
rs137853584
|
0.00001
|
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)
|
rs121918175
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)
|
rs121918179
|
0.00001
|
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)
|
rs121918184
|
0.00001
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser)
|
rs398122379
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601
|
0.00001
|
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)
|
rs118204025
|
0.00001
|
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp)
|
rs104894034
|
0.00001
|
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)
|
rs137852534
|
0.00001
|
NM_000292.3(PHKA2):c.557G>A (p.Arg186His)
|
rs137852290
|
0.00001
|
NM_000293.3(PHKB):c.306-2A>G
|
rs797044442
|
0.00001
|
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)
|
rs121918022
|
0.00001
|
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr)
|
rs137853591
|
0.00001
|
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)
|
rs74315362
|
0.00001
|
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
|
rs774652817
|
0.00001
|
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)
|
rs771145576
|
0.00001
|
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)
|
rs137854541
|
0.00001
|
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)
|
rs121909744
|
0.00001
|
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter)
|
rs771477447
|
0.00001
|
NM_000340.2(SLC2A2):c.952G>A (p.Gly318Arg)
|
rs780067980
|
0.00001
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)
|
rs121912669
|
0.00001
|
NM_000352.4(ABCC8):c.-190C>G
|
rs1395224084
|
0.00001
|
NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu)
|
rs267606623
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr)
|
rs121964848
|
0.00001
|
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)
|
rs72555365
|
0.00001
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
NM_000404.4(GLB1):c.818G>T (p.Trp273Leu)
|
rs72555362
|
0.00001
|
NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro)
|
rs193922915
|
0.00001
|
NM_000434.4(NEU1):c.239C>T (p.Pro80Leu)
|
rs104893985
|
0.00001
|
NM_000434.4(NEU1):c.718T>C (p.Trp240Arg)
|
rs104893978
|
0.00001
|
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg)
|
rs104893983
|
0.00001
|
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr)
|
rs104893977
|
0.00001
|
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)
|
rs121918188
|
0.00001
|
NM_000512.5(GALNS):c.1319del (p.Leu440fs)
|
rs1567517083
|
0.00001
|
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)
|
rs118204444
|
0.00001
|
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)
|
rs104894237
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)
|
rs121434333
|
0.00001
|
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)
|
rs113994128
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)
|
rs121908046
|
0.00001
|
NM_001040716.2(PC):c.467G>A (p.Arg156Gln)
|
rs119103241
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter)
|
rs267607136
|
0.00001
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
|
rs80356489
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)
|
rs773102942
|
0.00001
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
NM_001366110.1(PAX4):c.772-1G>A
|
rs371715169
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001715.2(BLK):c.*505G>T
|
rs886037621
|
0.00001
|
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)
|
rs587777316
|
0.00001
|
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)
|
rs119103240
|
0.00001
|
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter)
|
rs121434584
|
0.00001
|
NM_002300.8(LDHB):c.515G>A (p.Arg172His)
|
rs118203895
|
0.00001
|
NM_003041.4(SLC5A2):c.265G>A (p.Ala89Thr)
|
rs886037850
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)
|
rs1135402725
|
0.00001
|
NM_003477.3(PDHX):c.44G>A (p.Arg15His)
|
rs387906998
|
0.00001
|
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)
|
rs113309941
|
0.00001
|
NM_003805.5(CRADD):c.508C>T (p.Arg170Cys)
|
rs749655461
|
0.00001
|
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)
|
rs727502869
|
0.00001
|
NM_004830.4(MED23):c.1832G>A (p.Arg611Gln)
|
rs370667926
|
0.00001
|
NM_004830.4(MED23):c.382G>A (p.Gly128Arg)
|
rs569927513
|
0.00001
|
NM_005327.7(HADH):c.171C>A (p.Asp57Glu)
|
rs137853102
|
0.00001
|
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)
|
rs119103252
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)
|
rs137852915
|
0.00001
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
NM_005908.4(MANBA):c.375A>G (p.Arg125=)
|
rs771587242
|
0.00001
|
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer)
|
rs752343321
|
0.00001
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)
|
rs1201878175
|
0.00001
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys)
|
rs751425603
|
0.00001
|
NM_006828.4(ASCC3):c.5693A>G (p.His1898Arg)
|
rs1381176199
|
0.00001
|
NM_006859.4(LIAS):c.542A>T (p.Asp181Val)
|
rs1553934355
|
0.00001
|
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu)
|
rs869312808
|
0.00001
|
NM_006859.4(LIAS):c.746G>A (p.Arg249His)
|
rs144133667
|
0.00001
|
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)
|
rs119490108
|
0.00001
|
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)
|
rs387907195
|
0.00001
|
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)
|
rs387906885
|
0.00001
|
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)
|
rs753503405
|
0.00001
|
NM_016302.4(CRBN):c.1255C>T (p.Arg419Ter)
|
rs121918368
|
0.00001
|
NM_017755.6(NSUN2):c.2035G>A (p.Gly679Arg)
|
rs587776908
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter)
|
rs143038880
|
0.00001
|
NM_032808.7(LINGO1):c.863A>G (p.Tyr288Cys)
|
rs750612085
|
0.00001
|
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)
|
rs104893743
|
0.00001
|
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys)
|
rs772218199
|
0.00001
|
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro)
|
rs267606763
|
0.00001
|
NM_138801.3(GALM):c.932G>A (p.Trp311Ter)
|
rs767153310
|
0.00001
|
NM_144563.3(RPIA):c.404C>T (p.Ala135Val)
|
rs121918591
|
0.00001
|
NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp)
|
rs758859772
|
0.00001
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)
|
rs483352894
|
0.00001
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)
|
rs121908286
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)
|
rs1553259602
|
0.00001
|
NM_194436.3(LDHD):c.1039C>T (p.Arg347Trp)
|
rs2036459233
|
0.00001
|
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)
|
rs28940575
|
0.00001
|
AGL, EcoRI FRAGMENT INS
|
|
|
G6PD A-
|
|
|
G6PD Amsterdam
|
rs2070404412
|
|
G6PD NARA
|
rs587776730
|
|
GRIK2, DEL/INV, EX7-11
|
|
|
HNF1B, 1-BP DEL
|
|
|
HNF1B, EX5DUP
|
|
|
HNF4A, 1-BP DEL, PHE75T
|
|
|
NC_000001.11:g.(?_42925375)_(42959176_?)del
|
|
|
NC_000001.11:g.155301478C>G
|
rs2148221101
|
|
NC_000004.12:g.107986495_107992009del
|
|
|
NC_000023.11:g.(?_149478764)_(149505354_?)del
|
|
|
NG_011731.2:g.4741A>C
|
rs2135818776
|
|
NG_013346.1:g.(24722_27196)_(28294_?)del
|
|
|
NG_013368.1:g.33923_80418delins[DQ831669.1:28435_34519]
|
|
|
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer)
|
rs386833417
|
|
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla)
|
rs386833418
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
NM_000027.4(AGA):c.214T>C (p.Ser72Pro)
|
rs121964909
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000027.4(AGA):c.800del (p.Leu267fs)
|
rs794728009
|
|
NM_000027.4(AGA):c.904G>A (p.Gly302Arg)
|
rs121964905
|
|
NM_000027.4(AGA):c.916T>C (p.Cys306Arg)
|
rs121964906
|
|
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter)
|
rs121908521
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)
|
rs121908528
|
|
NM_000035.4(ALDOB):c.-10-2043_624+62del
|
|
|
NM_000035.4(ALDOB):c.1000-1_1006delinsTG
|
rs2118333206
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del)
|
rs387906226
|
|
NM_000035.4(ALDOB):c.625-1G>A
|
rs1564077542
|
|
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)
|
rs118204426
|
|
NM_000035.4(ALDOB):c.865_867del (p.Leu289del)
|
rs118204425
|
|
NM_000046.5(ARSB):c.1143-8T>G
|
rs431905496
|
|
NM_000060.2(BTD):c.[1207T>G;1330G>C]
|
|
|
NM_000060.2(BTD):c.[511G>A;1330G>C]
|
|
|
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr)
|
rs121964991
|
|
NM_000108.5(DLD):c.140T>C (p.Ile47Thr)
|
rs397514651
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly)
|
rs397514650
|
|
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)
|
rs121964989
|
|
NM_000108.5(DLD):c.214A>G (p.Lys72Glu)
|
rs121964987
|
|
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)
|
rs80358195
|
|
NM_000147.5(FUCA1):c.1160G>A (p.Trp387Ter)
|
rs80358197
|
|
NM_000147.5(FUCA1):c.437del (p.Pro146fs)
|
|
|
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter)
|
rs80358198
|
|
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
|
|
|
NM_000147.5(FUCA1):c.810del (p.Cys271fs)
|
rs1557510081
|
|
NM_000147.5(FUCA1):c.969+1G>A
|
rs1570679652
|
|
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)
|
rs104894566
|
|
NM_000151.4(G6PC1):c.230+4A>G
|
rs587776757
|
|
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)
|
rs80356488
|
|
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly)
|
rs104894571
|
|
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu)
|
rs104894569
|
|
NM_000152.5(GAA):c.1076-1G>A
|
rs1555600050
|
|
NM_000152.5(GAA):c.2483_2646+1del
|
rs1555603048
|
|
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter)
|
rs104894577
|
|
NM_000154.2(GALK1):c.761del (p.Ser254fs)
|
rs1599335144
|
|
NM_000155.4(GALT):c.130G>A (p.Val44Met)
|
rs111033647
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)
|
rs111033721
|
|
NM_000155.4(GALT):c.580T>C (p.Phe194Leu)
|
rs111033726
|
|
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
|
|
|
NM_000158.4(GBE1):c.143+1G>A
|
rs397515343
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)
|
rs137852889
|
|
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter)
|
rs137852890
|
|
NM_000158.4(GBE1):c.691+5G>C
|
rs397515344
|
|
NM_000158.4(GBE1):c.783-1G>A
|
rs397515342
|
|
NM_000158.4:c.430_782del
|
|
|
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys)
|
rs397514580
|
|
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr)
|
rs104894016
|
|
NM_000162.5(GCK):c.1363G>A (p.Val455Met)
|
rs104894012
|
|
NM_000162.5(GCK):c.1367C>T (p.Ala456Val)
|
rs104894014
|
|
NM_000162.5(GCK):c.271G>Y (p.Val91Leu)
|
|
|
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)
|
rs104894010
|
|
NM_000162.5(GCK):c.483+2_483+16del
|
rs1583601110
|
|
NM_000162.5(GCK):c.629T>A (p.Met210Lys)
|
rs80356654
|
|
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)
|
rs104894015
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
NM_000162.5(GCK):c.781G>A (p.Gly261Arg)
|
rs104894008
|
|
NM_000162.5(GCK):c.793G>T (p.Glu265Ter)
|
rs104894011
|
|
NM_000162.5(GCK):c.835G>T (p.Glu279Ter)
|
rs104894005
|
|
NM_000162.5(GCK):c.895G>C (p.Gly299Arg)
|
rs104894009
|
|
NM_000175.5(GPI):c.1040G>A (p.Arg347His)
|
rs137853583
|
|
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg)
|
rs267606853
|
|
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn)
|
rs137853585
|
|
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn)
|
rs121918182
|
|
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter)
|
rs121918180
|
|
NM_000181.4(GUSB):c.1391+618_1391+619del
|
rs786200863
|
|
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)
|
rs121918178
|
|
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu)
|
rs121918183
|
|
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser)
|
rs121918177
|
|
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)
|
rs137853249
|
|
NM_000188.3(HK1):c.497_591+1del
|
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000202.5(IDS):c.[1464G>T,1466G>C]
|
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly)
|
rs199422229
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
NM_000202.8(IDS):c.1403G>T (p.Arg468Leu)
|
rs113993946
|
|
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)
|
rs199422230
|
|
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser)
|
rs199422228
|
|
NM_000202.8(IDS):c.349_351del (p.Ser117del)
|
rs483352905
|
|
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)
|
rs104894861
|
|
NM_000202.8(IDS):c.479C>G (p.Pro160Arg)
|
rs104894856
|
|
NM_000202.8(IDS):c.509_510del (p.Thr170fs)
|
rs483352904
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
|
|
|
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)
|
rs387906504
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)
|
rs121965024
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)
|
rs121965031
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
NM_000203.5(IDUA):c.300-3C>G
|
rs1226056948
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)
|
rs121965023
|
|
NM_000207.3(INS):c.127T>G (p.Cys43Gly)
|
rs80356666
|
|
NM_000207.3(INS):c.137G>A (p.Arg46Gln)
|
rs121908260
|
|
NM_000207.3(INS):c.143T>G (p.Phe48Cys)
|
rs80356668
|
|
NM_000207.3(INS):c.187+241G>A
|
rs886041083
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
NM_000207.3(INS):c.287G>A (p.Cys96Tyr)
|
rs80356671
|
|
NM_000207.3(INS):c.71C>A (p.Ala24Asp)
|
rs80356663
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)
|
rs121913156
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000262.3(NAGA):c.577G>T (p.Glu193Ter)
|
rs121434531
|
|
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp)
|
rs121434530
|
|
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu)
|
rs118204024
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
NM_000284.4(PDHA1):c.*79_*90dup
|
rs1555935690
|
|
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs)
|
rs606231187
|
|
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup)
|
rs606231191
|
|
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu)
|
rs1131691584
|
|
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)
|
rs137853250
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs)
|
rs606231186
|
|
NM_000284.4(PDHA1):c.1167_1170del (p.Ser390fs)
|
rs606231184
|
|
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)
|
rs137853257
|
|
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)
|
rs137853254
|
|
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)
|
rs121917898
|
|
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)
|
rs137853255
|
|
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala)
|
rs137853253
|
|
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)
|
rs137853259
|
|
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs)
|
rs606231190
|
|
NM_000284.4(PDHA1):c.863G>A (p.Arg288His)
|
rs137853258
|
|
NM_000284.4(PDHA1):c.900-3_917dup
|
rs606231188
|
|
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)
|
rs137853252
|
|
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)
|
rs606231185
|
|
NM_000284.4(PDHA1):c.938_940del (p.Lys313del)
|
rs137853251
|
|
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)
|
rs137853256
|
|
NM_000284.4(PDHA1):c.991_1003dup (p.Leu335fs)
|
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu)
|
rs121918193
|
|
NM_000289.6(PFKM):c.1341+1G>T
|
rs755419857
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)
|
rs121918196
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
NM_000289.6(PFKM):c.428-2A>C
|
rs895690691
|
|
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro)
|
rs137852539
|
|
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)
|
rs137852536
|
|
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro)
|
rs137852531
|
|
NM_000291.4(PGK1):c.473G>T (p.Gly158Val)
|
rs137852532
|
|
NM_000291.4(PGK1):c.491A>T (p.Asp164Val)
|
rs137852538
|
|
NM_000291.4(PGK1):c.571AAG[1] (p.Lys192del)
|
rs431905502
|
|
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro)
|
rs137852529
|
|
NM_000291.4(PGK1):c.756+5G>A
|
rs431905503
|
|
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met)
|
rs431905501
|
|
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn)
|
rs137852528
|
|
NM_000291.4(PGK1):c.854A>T (p.Asp285Val)
|
rs137852535
|
|
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg)
|
rs137852533
|
|
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn)
|
rs137852537
|
|
NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter)
|
rs137852286
|
|
NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter)
|
rs137852285
|
|
NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter)
|
rs137852287
|
|
NM_000292.3(PHKA2):c.3327_3332dup (p.Arg1111_Glu1112insThrArg)
|
rs2147806786
|
|
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile)
|
rs137852293
|
|
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)
|
rs137852288
|
|
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr)
|
rs137852292
|
|
NM_000292.3(PHKA2):c.395A>C (p.His132Pro)
|
rs137852291
|
|
NM_000292.3(PHKA2):c.421_423del (p.Phe141del)
|
rs587776732
|
|
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)
|
rs137852294
|
|
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu)
|
rs137852295
|
|
NM_000292.3(PHKA2):c.717+1G>T
|
rs587776731
|
|
NM_000292.3(PHKA2):c.750_752del (p.Thr251del)
|
rs587776733
|
|
NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly)
|
rs137852289
|
|
NM_000293.2(PHKB):c.[2923T>C;2926G>T]
|
|
|
NM_000293.3(PHKB):c.1265dup (p.Asn422fs)
|
|
|
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)
|
rs34667348
|
|
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter)
|
rs137853590
|
|
NM_000294.3(PHKG2):c.265dup (p.His89fs)
|
|
|
NM_000294.3(PHKG2):c.277del (p.Leu93fs)
|
rs1596680941
|
|
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu)
|
rs137853589
|
|
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu)
|
rs137853588
|
|
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg)
|
rs137853592
|
|
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys)
|
rs118204084
|
|
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)
|
rs118204089
|
|
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)
|
rs118204083
|
|
NM_000298.6(PKLR):c.826del (p.Val276fs)
|
rs754939638
|
|
NM_000308.4(CTSA):c.1184A>G (p.Tyr395Cys)
|
rs137854543
|
|
NM_000308.4(CTSA):c.193T>C (p.Trp65Arg)
|
rs28934603
|
|
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu)
|
rs137854542
|
|
NM_000340.2(SLC2A2):c.1051del (p.Val351fs)
|
rs1715390589
|
|
NM_000340.2(SLC2A2):c.109-2A>G
|
rs1576838294
|
|
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro)
|
rs121909747
|
|
NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter)
|
rs121909745
|
|
NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu)
|
rs28928874
|
|
NM_000340.2(SLC2A2):c.137del (p.Leu46fs)
|
|
|
NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter)
|
rs121909746
|
|
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn)
|
rs121912668
|
|
NM_000352.4:c.(?_1818)_(1923_?)del
|
|
|
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys)
|
rs80356651
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val)
|
rs72559723
|
|
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)
|
rs80356634
|
|
NM_000352.6(ABCC8):c.2292-1G>A
|
rs1564905676
|
|
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly)
|
rs193929360
|
|
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr)
|
rs193929369
|
|
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)
|
rs80356637
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)
|
rs387906408
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val)
|
rs80356653
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
NM_000352.6(ABCC8):c.512dup (p.Thr172fs)
|
rs1564980510
|
|
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)
|
rs80356642
|
|
NM_000365.6(TPI1):c.32dup (p.Asn12fs)
|
rs587777441
|
|
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter)
|
rs121964850
|
|
NM_000365.6(TPI1):c.511A>G (p.Ile171Val)
|
rs121964849
|
|
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu)
|
rs121964847
|
|
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser)
|
rs587777440
|
|
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)
|
rs137852347
|
|
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)
|
rs137852345
|
|
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)
|
rs137852329
|
|
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)
|
rs387906468
|
|
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)
|
rs137852334
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)
|
rs137852335
|
|
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp)
|
rs137852336
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)
|
rs137852332
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)
|
rs137852346
|
|
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)
|
rs72555369
|
|
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)
|
rs72555367
|
|
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys)
|
rs72555363
|
|
NM_000404.4(GLB1):c.247T>C (p.Tyr83His)
|
rs72555364
|
|
NM_000404.4(GLB1):c.75+2T>G
|
rs2125591484
|
|
NM_000434.4(NEU1):c.1021+1G>C
|
rs1486980139
|
|
NM_000434.4(NEU1):c.1129G>T (p.Glu377Ter)
|
rs104893971
|
|
NM_000434.4(NEU1):c.1208del (p.Ser403fs)
|
|
|
NM_000434.4(NEU1):c.272T>G (p.Leu91Arg)
|
rs104893972
|
|
NM_000434.4(NEU1):c.625del (p.Glu209fs)
|
rs1581820081
|
|
NM_000434.4(NEU1):c.674G>C (p.Arg225Pro)
|
rs104893980
|
|
NM_000434.4(NEU1):c.69G>A (p.Trp23Ter)
|
rs104893986
|
|
NM_000434.4(NEU1):c.87G>A (p.Trp29Ter)
|
rs104893984
|
|
NM_000434.4(NEU1):c.946C>T (p.Pro316Ser)
|
rs104893979
|
|
NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)
|
|
|
NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter)
|
|
|
NM_000458.4(HNF1B):c.410_484del (p.Arg137_Lys161del)
|
|
|
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
|
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
|
|
NM_000458.4(HNF1B):c.544+1G>T
|
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)
|
|
|
NM_000507.4(FBP1):c.530C>A (p.Ala177Asp)
|
rs121918189
|
|
NM_000507.4(FBP1):c.581T>C (p.Phe194Ser)
|
rs121918191
|
|
NM_000507.4(FBP1):c.851C>G (p.Pro284Arg)
|
rs121918192
|
|
NM_000507.4(FBP1):c.88G>T (p.Glu30Ter)
|
rs121918190
|
|
NM_000512.4(GALNS):c.413T>C (p.Val138Ala)
|
rs118204436
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
NM_000512.5(GALNS):c.1290_1291del (p.His430fs)
|
rs2142992359
|
|
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)
|
rs118204439
|
|
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)
|
rs118204440
|
|
NM_000512.5(GALNS):c.205T>G (p.Phe69Val)
|
rs118204445
|
|
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)
|
rs118204441
|
|
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)
|
rs118204435
|
|
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)
|
rs118204449
|
|
NM_000525.4(KCNJ11):c.-134G>T
|
rs387906398
|
|
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg)
|
rs80356610
|
|
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro)
|
rs80356611
|
|
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp)
|
rs80356615
|
|
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)
|
rs80356616
|
|
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly)
|
rs80356617
|
|
NM_000525.4(KCNJ11):c.179T>A (p.Phe60Tyr)
|
rs387906783
|
|
NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter)
|
rs104894236
|
|
NM_000525.4(KCNJ11):c.440T>C (p.Leu147Pro)
|
rs28936678
|
|
NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg)
|
rs1404429785
|
|
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe)
|
rs80356618
|
|
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu)
|
rs80356620
|
|
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg)
|
rs80356621
|
|
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn)
|
rs80356622
|
|
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)
|
rs80356625
|
|
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)
|
rs80356624
|
|
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)
|
rs587783672
|
|
NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del)
|
rs1953574433
|
|
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)
|
rs121434332
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000545.8(HNF1A):c.-119del
|
rs754470733
|
|
NM_000545.8(HNF1A):c.1333_1334del (p.Ser445fs)
|
rs2135847417
|
|
NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)
|
rs137853241
|
|
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)
|
rs137853243
|
|
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys)
|
rs137853237
|
|
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)
|
rs137853244
|
|
NM_000545.8(HNF1A):c.587_590del (p.Thr196fs)
|
rs2135839114
|
|
NM_000545.8(HNF1A):c.714-1G>A
|
rs1463923467
|
|
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)
|
rs137853245
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000545.8(HNF1A):c.876del (p.Pro293fs)
|
rs2135842335
|
|
NM_000642.3(AGL):c.3439A>G (p.Arg1147Gly)
|
rs267606639
|
|
NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg)
|
rs118203964
|
|
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
|
rs113994134
|
|
NM_000827.4(GRIA1):c.1129C>T (p.Arg377Ter)
|
rs1173036683
|
|
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe)
|
rs199473650
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)
|
rs104894575
|
|
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)
|
rs104894585
|
|
NM_000891.3(KCNJ2):c.285_296del (p.Trp96_Phe99del)
|
rs2144376746
|
|
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu)
|
rs104894581
|
|
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His)
|
rs104894583
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)
|
rs104894579
|
|
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)
|
rs104894582
|
|
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro)
|
rs199473387
|
|
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)
|
rs2074390325
|
|
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser)
|
rs28933391
|
|
NM_000925.4(PDHB):c.302T>C (p.Met101Thr)
|
rs2062921303
|
|
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
|
rs201199166
|
|
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)
|
rs868788199
|
|
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys)
|
rs28935769
|
|
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)
|
rs2062912705
|
|
NM_000925.4(PDHB):c.916T>C (p.Cys306Arg)
|
rs145876456
|
|
NM_001008216.2(GALE):c.269G>A (p.Gly90Glu)
|
rs28940882
|
|
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly)
|
rs28940883
|
|
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro)
|
rs121908045
|
|
NM_001008216.2(GALE):c.937C>A (p.Leu313Met)
|
rs3180383
|
|
NM_001040616.3(LINS1):c.1219_1222+1del
|
rs587777226
|
|
NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer)
|
rs587777225
|
|
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)
|
rs113994143
|
|
NM_001040716.2(PC):c.1748G>T (p.Arg583Leu)
|
rs119103242
|
|
NM_001040716.2(PC):c.1825+2_1825+5del
|
rs2135813862
|
|
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)
|
rs28940589
|
|
NM_001040716.2(PC):c.2229G>T (p.Met743Ile)
|
rs28940590
|
|
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)
|
rs756355930
|
|
NM_001040716.2(PC):c.2876dup (p.Glu961fs)
|
rs1565209327
|
|
NM_001040716.2(PC):c.434T>C (p.Val145Ala)
|
rs28940591
|
|
NM_001041.4(SI):c.1022T>C (p.Leu341Pro)
|
rs267607049
|
|
NM_001041.4(SI):c.1859T>C (p.Leu620Pro)
|
rs121912613
|
|
NM_001041.4(SI):c.350A>G (p.Gln117Arg)
|
rs121912612
|
|
NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr)
|
rs121912614
|
|
NM_001064.4(TKT):c.633G>A (p.Trp211Ter)
|
rs868953318
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001080510.5(METTL23):c.178dup (p.Glu60fs)
|
rs1382444181
|
|
NM_001080510.5(METTL23):c.282_286del (p.Gln94fs)
|
rs587777645
|
|
NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter)
|
rs587777646
|
|
NM_001104647.3(SLC25A36):c.284+3A>T
|
|
|
NM_001104647.3(SLC25A36):c.803dup (p.Ser269fs)
|
|
|
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)
|
rs1203487591
|
|
NM_001136035.4(TRMT1):c.1506+1G>T
|
rs1568361011
|
|
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs)
|
rs746572548
|
|
NM_001160372.4(TRAPPC9):c.2019_2022del (p.Leu674fs)
|
rs2131714307
|
|
NM_001160372.4(TRAPPC9):c.2557-2A>C
|
rs1587520018
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)
|
rs121908975
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.625G>A (p.Gly209Ser)
|
rs1272300904
|
|
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)
|
rs121908977
|
|
NM_001164277.2(SLC37A4):c.871+1G>T
|
rs1943574435
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
NM_001164277.2(SLC37A4):c.925_928delinsTC (p.Ala309fs)
|
rs2134631556
|
|
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly)
|
rs121909533
|
|
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys)
|
rs121909534
|
|
NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter)
|
rs1183090232
|
|
NM_001271838.2(RSRC1):c.3G>T (p.Met1Ile)
|
rs1335486803
|
|
NM_001271838.2(RSRC1):c.441_447dup (p.Glu150fs)
|
rs2108279740
|
|
NM_001271838.2(RSRC1):c.532-1G>A
|
rs754550509
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001358263.1(HK1):c.-270G>C
|
rs397514654
|
|
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)
|
rs137852338
|
|
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)
|
rs2230037
|
|
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu)
|
rs137852328
|
|
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)
|
rs1204990361
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)
|
rs1210441433
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)
|
rs606231458
|
|
NM_001543.5(NDST1):c.1926G>T (p.Glu642Asp)
|
rs606231457
|
|
NM_001543.5(NDST1):c.2126G>A (p.Arg709Gln)
|
rs606231456
|
|
NM_001739.2(CA5A):c.619-3421_774+502del
|
|
|
NM_001807.6(CEL):c.1677del (p.Val560fs)
|
|
|
NM_001807.6(CEL):c.1776del (p.Val593fs)
|
rs193922638
|
|
NM_001931.5(DLAT):c.362_364del (p.Glu121del)
|
rs2137679109
|
|
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)
|
rs797044957
|
|
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter)
|
rs119461974
|
|
NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs)
|
rs483352899
|
|
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter)
|
rs119461975
|
|
NM_002076.4(GNS):c.1169del (p.Gln390fs)
|
rs483352898
|
|
NM_002076.4(GNS):c.1226dup (p.Ser410fs)
|
rs483352900
|
|
NM_002294.3(LAMP2):c.1082del (p.Lys361fs)
|
rs1436664364
|
|
NM_002294.3(LAMP2):c.1093+2440_1093+2441del
|
rs2147277541
|
|
NM_002294.3(LAMP2):c.14del (p.Arg5fs)
|
rs1183994410
|
|
NM_002294.3(LAMP2):c.36_42del (p.Gly13fs)
|
rs1436181133
|
|
NM_002294.3(LAMP2):c.440T>A (p.Leu147Ter)
|
rs137852527
|
|
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter)
|
rs104894857
|
|
NM_002294.3(LAMP2):c.741+1G>A
|
rs1251075016
|
|
NM_002294.3(LAMP2):c.864+4A>G
|
rs2147281356
|
|
NM_002294.3(LAMP2):c.864+5G>C
|
rs1352584474
|
|
NM_002294.3(LAMP2):c.883dup (p.Tyr295fs)
|
rs1327363415
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg)
|
rs104894859
|
|
NM_002294.3(LAMP2):c.974delinsAA (p.Leu325fs)
|
|
|
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs)
|
rs386833836
|
|
NM_002299.4(LCT):c.804G>C (p.Gln268His)
|
rs121908937
|
|
NM_002300.8(LDHB):c.385A>C (p.Ser129Arg)
|
rs118203896
|
|
NM_002300.8(LDHB):c.973T>C (p.Trp325Arg)
|
rs267607212
|
|
NM_002500.5(NEUROD1):c.616dup (p.His206fs)
|
rs387906384
|
|
NM_002637.4(PHKA1):c.3498+1G>C
|
|
|
NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg)
|
rs137852548
|
|
NM_002637.4(PHKA1):c.695del (p.Ala232fs)
|
rs1603266754
|
|
NM_002637.4(PHKA1):c.896A>T (p.Asp299Val)
|
rs137852547
|
|
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser)
|
rs113993976
|
|
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys)
|
rs113993977
|
|
NM_002863.5(PYGL):c.529-1G>C
|
rs113993974
|
|
NM_003041.4(SLC5A2):c.127-16C>A
|
rs398122801
|
|
NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter)
|
rs121918621
|
|
NM_003041.4(SLC5A2):c.1435C>G (p.Arg479Gly)
|
rs387906682
|
|
NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu)
|
rs398122802
|
|
NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG
|
rs606231172
|
|
NM_003051.4(SLC16A1):c.-202G>A
|
rs387906403
|
|
NM_003292.3(TPR):c.2610+5G>A
|
|
|
NM_003292.3(TPR):c.6625C>T (p.Arg2209Ter)
|
|
|
NM_003477.2(PDHX):c.78_162del
|
|
|
NM_003477.3(PDHX):c.1024-1G>A
|
rs724159830
|
|
NM_003477.3(PDHX):c.1183-3088_1247+760del
|
|
|
NM_003477.3(PDHX):c.620del (p.Pro207fs)
|
rs724159979
|
|
NM_003477.3(PDHX):c.641+1G>A
|
rs724159829
|
|
NM_003477.3(PDHX):c.88_91del (p.Lys30fs)
|
rs724159828
|
|
NM_003477.3(PDHX):c.965_1023del (p.Asp322fs)
|
rs1554989996
|
|
NM_003619.4(PRSS12):c.1355_1358del (p.Asp452fs)
|
rs876657372
|
|
NM_003754.3(EIF3F):c.861dup (p.Gln288fs)
|
rs2133674310
|
|
NM_004130.4(GYG1):c.248C>T (p.Thr83Met)
|
rs267606858
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
NM_004130.4(GYG1):c.749G>A (p.Trp250Ter)
|
rs727502870
|
|
NM_004830.4(MED23):c.1919A>G (p.Gln640Arg)
|
rs745997916
|
|
NM_004830.4(MED23):c.3638A>G (p.His1213Arg)
|
rs527236035
|
|
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)
|
rs527236036
|
|
NM_004830.4(MED23):c.506A>G (p.Tyr169Cys)
|
rs2114757071
|
|
NM_004830.4(MED23):c.539C>A (p.Ala180Asp)
|
rs2114756866
|
|
NM_004830.4(MED23):c.670C>G (p.Arg224Gly)
|
rs1293450628
|
|
NM_005271.5(GLUD1):c.1046A>C (p.Glu349Ala)
|
rs121909735
|
|
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
|
rs121909731
|
|
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)
|
rs121909733
|
|
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro)
|
rs121909732
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
NM_005327.7(HADH):c.118G>A (p.Ala40Thr)
|
rs137853101
|
|
NM_005327.7(HADH):c.547-3_549del
|
rs2126234459
|
|
NM_005327.7(HADH):c.636+471G>T
|
rs786200932
|
|
NM_005327.7(HADH):c.773C>T (p.Pro258Leu)
|
rs137853103
|
|
NM_005536.4(IMPA1):c.489_493dup (p.Ser165fs)
|
rs1057519491
|
|
NM_005566.4(LDHA):c.759_778del (p.Leu254fs)
|
|
|
NM_005566.4(LDHA):c.985G>T (p.Glu329Ter)
|
rs121912479
|
|
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)
|
rs2058376262
|
|
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro)
|
rs119103254
|
|
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)
|
rs397514631
|
|
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del)
|
rs1325298827
|
|
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter)
|
rs119103257
|
|
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)
|
rs119103260
|
|
NM_005609.4(PYGM):c.1725del (p.Lys575fs)
|
rs786200874
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
|
NM_005609.4(PYGM):c.1A>C (p.Met1Leu)
|
rs267606993
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005645.4(TAF13):c.119T>A (p.Met40Lys)
|
rs1060505029
|
|
NM_005645.4(TAF13):c.92T>A (p.Leu31His)
|
rs1060505030
|
|
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)
|
rs587776553
|
|
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
|
rs137852917
|
|
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)
|
rs104893955
|
|
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)
|
rs587776554
|
|
NM_005883.3(APC2):c.5199dup (p.Lys1734fs)
|
rs886040957
|
|
NM_005883.3(APC2):c.6620C>T (p.Pro2207Leu)
|
rs1338563418
|
|
NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter)
|
rs121434336
|
|
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs)
|
rs1188116333
|
|
NM_005908.4(MANBA):c.1513T>C (p.Ser505Pro)
|
rs121434334
|
|
NM_005908.4(MANBA):c.1705-1G>A
|
rs1730296951
|
|
NM_005908.4(MANBA):c.247G>T (p.Glu83Ter)
|
rs121434335
|
|
NM_006279.5(ST3GAL3):c.1108G>T (p.Asp370Tyr)
|
rs1557612719
|
|
NM_006279.5(ST3GAL3):c.38C>A (p.Ala13Asp)
|
rs387906943
|
|
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)
|
rs864309522
|
|
NM_006516.4(SLC2A1):c.1347C>A (p.Tyr449Ter)
|
rs80359828
|
|
NM_006516.4(SLC2A1):c.1366A>T (p.Lys456Ter)
|
rs80359829
|
|
NM_006516.4(SLC2A1):c.272G>A (p.Gly91Asp)
|
rs80359814
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile)
|
rs267607060
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)
|
rs387907312
|
|
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)
|
rs121909740
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp)
|
rs864309514
|
|
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr)
|
rs2124448406
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006618.5(KDM5B):c.3799del (p.Gln1267fs)
|
rs1558479778
|
|
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter)
|
rs1558478047
|
|
NM_006618.5(KDM5B):c.622dup (p.Tyr208fs)
|
rs1558501648
|
|
NM_006618.5(KDM5B):c.787C>T (p.Pro263Ser)
|
rs375695605
|
|
NM_006721.4(ADK):c.704A>C (p.Asp235Ala)
|
rs397514453
|
|
NM_006721.4(ADK):c.89G>A (p.Gly30Glu)
|
rs397514454
|
|
NM_006721.4(ADK):c.953C>A (p.Ala318Glu)
|
rs397514452
|
|
NM_006755.2(TALDO1):c.512_514del (p.Ser171del)
|
rs137853085
|
|
NM_006755.2(TALDO1):c.669C>G (p.Tyr223Ter)
|
rs1448870204
|
|
NM_006755.2(TALDO1):c.793del (p.Gln265fs)
|
rs727502867
|
|
NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp)
|
rs753787975
|
|
NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter)
|
rs387906804
|
|
NM_006765.4(TUSC3):c.225del (p.Lys75fs)
|
rs1554461593
|
|
NM_006765.4(TUSC3):c.786dup (p.Asn263fs)
|
rs1585215916
|
|
NM_006828.4(ASCC3):c.3434del (p.Lys1145fs)
|
rs759097017
|
|
NM_006828.4(ASCC3):c.3522dup (p.Cys1175fs)
|
|
|
NM_006828.4(ASCC3):c.3631C>T (p.Gln1211Ter)
|
|
|
NM_006828.4(ASCC3):c.4280C>T (p.Thr1427Met)
|
|
|
NM_006828.4(ASCC3):c.4415G>A (p.Arg1472Gln)
|
|
|
NM_006828.4(ASCC3):c.4553G>A (p.Arg1518His)
|
|
|
NM_006828.4(ASCC3):c.4690T>C (p.Ser1564Pro)
|
|
|
NM_006828.4(ASCC3):c.4955G>A (p.Gly1652Asp)
|
|
|
NM_006828.4(ASCC3):c.4984A>T (p.Ile1662Phe)
|
|
|
NM_006828.4(ASCC3):c.5281C>T (p.Arg1761Ter)
|
|
|
NM_006828.4(ASCC3):c.801+1G>T
|
rs1432792609
|
|
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer)
|
rs1553934069
|
|
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys)
|
rs869320760
|
|
NM_006895.3(HNMT):c.179G>A (p.Gly60Asp)
|
rs758252808
|
|
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)
|
rs745756308
|
|
NM_007180.3(TREH):c.90-9_106del
|
rs527655595
|
|
NM_012096.3(APPL1):c.1655T>A (p.Leu552Ter)
|
rs869320673
|
|
NM_012096.3(APPL1):c.280G>A (p.Asp94Asn)
|
rs796065047
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012203.2(GRHPR):c.248_249del (p.Val83fs)
|
rs672601351
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
NM_012434.5(SLC17A5):c.548A>G (p.His183Arg)
|
rs119491109
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_013276.4(SHPK):c.211G>T (p.Glu71Ter)
|
rs748544120
|
|
NM_014026.6(DCPS):c.201+2T>C
|
rs1057519083
|
|
NM_014168.4(METTL5):c.344_345del (p.Arg115fs)
|
rs1573972562
|
|
NM_014168.4(METTL5):c.571_572del (p.Lys191fs)
|
rs1573965358
|
|
NM_014415.4(ZBTB11):c.154C>T (p.Arg52Trp)
|
|
|
NM_014415.4(ZBTB11):c.2185C>T (p.His729Tyr)
|
rs1559982532
|
|
NM_014415.4(ZBTB11):c.2640T>G (p.His880Gln)
|
rs1559981249
|
|
NM_014415.4(ZBTB11):c.2668A>G (p.Thr890Ala)
|
|
|
NM_014415.4(ZBTB11):c.2734C>T (p.Arg912Trp)
|
|
|
NM_014415.4(ZBTB11):c.2779C>T (p.Arg927Ter)
|
|
|
NM_014415.4(ZBTB11):c.907A>T (p.Ile303Phe)
|
|
|
NM_014704.4(CEP104):c.1901dup (p.Leu634fs)
|
rs1411591918
|
|
NM_014704.4(CEP104):c.2356_2357insTT (p.Cys786fs)
|
rs2124647615
|
|
NM_014704.4(CEP104):c.643C>T (p.Arg215Ter)
|
rs759675006
|
|
NM_014806.5(RUSC2):c.2596C>T (p.Arg866Ter)
|
rs1402086660
|
|
NM_014806.5(RUSC2):c.3952C>T (p.Arg1318Ter)
|
rs1554645052
|
|
NM_015028.4(TNIK):c.538C>T (p.Arg180Ter)
|
rs886037841
|
|
NM_015275.3(WASHC4):c.1324C>T (p.Gln442Ter)
|
rs2135773055
|
|
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)
|
rs768574664
|
|
NM_015275.3(WASHC4):c.3056C>G (p.Pro1019Arg)
|
rs587777411
|
|
NM_015275.3(WASHC4):c.3143A>G (p.Asp1048Gly)
|
rs1212552985
|
|
NM_015981.4(CAMK2A):c.1429C>T (p.His477Tyr)
|
rs1554119274
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)
|
rs730882145
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016100.5(NAA20):c.160A>G (p.Met54Val)
|
rs2146464332
|
|
NM_016100.5(NAA20):c.239C>T (p.Ala80Val)
|
rs768029717
|
|
NM_016203.4(PRKAG2):c.1151G>C (p.Arg384Thr)
|
rs730882148
|
|
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
|
rs121908991
|
|
NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro)
|
rs1158130828
|
|
NM_016219.5(MAN1B1):c.1311del (p.Leu438fs)
|
rs747262065
|
|
NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter)
|
rs1564311909
|
|
NM_016219.5(MAN1B1):c.1445+2_1445+5del
|
rs1831100970
|
|
NM_016219.5(MAN1B1):c.465+1462_620+529del
|
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
NM_016219.5(MAN1B1):c.621-2A>G
|
rs937318545
|
|
NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs)
|
rs1564281411
|
|
NM_016286.4(DCXR):c.583del (p.His195fs)
|
rs747887427
|
|
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)
|
rs797045036
|
|
NM_017721.5(CC2D1A):c.1223-294_1642-220del
|
|
|
NM_017755.6(NSUN2):c.1114C>T (p.Gln372Ter)
|
rs387907191
|
|
NM_017755.6(NSUN2):c.538-11T>G
|
rs2126499522
|
|
NM_017755.6(NSUN2):c.538-1G>C
|
rs1560982564
|
|
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter)
|
rs387907190
|
|
NM_018117.12(WDR11):c.1255C>T (p.Gln419Ter)
|
rs2133748193
|
|
NM_018117.12(WDR11):c.1439del (p.Asn480fs)
|
rs747938475
|
|
NM_018117.12(WDR11):c.2931+1G>A
|
rs1252726486
|
|
NM_018117.12(WDR11):c.3033_3036del
|
rs760973100
|
|
NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu)
|
rs371310428
|
|
NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro)
|
rs772450541
|
|
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter)
|
rs267606938
|
|
NM_018444.4(PDP1):c.500dup (p.Leu167fs)
|
rs1810312864
|
|
NM_018444.4(PDP1):c.851_853del (p.Leu284del)
|
rs1554572756
|
|
NM_020066.5(FMN2):c.1394dup (p.Ala466fs)
|
rs727502860
|
|
NM_020066.5(FMN2):c.2515del (p.Thr839fs)
|
rs727502861
|
|
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs)
|
rs730882197
|
|
NM_021956.5(GRIK2):c.592C>T (p.Arg198Ter)
|
rs749995448
|
|
NM_021957.4(GYS2):c.1336C>G (p.His446Asp)
|
rs121918425
|
|
NM_021957.4(GYS2):c.1447T>C (p.Ser483Pro)
|
rs121918424
|
|
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)
|
rs121918422
|
|
NM_021957.4(GYS2):c.941+1G>C
|
rs587776831
|
|
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)
|
rs886041058
|
|
NM_024298.5(MBOAT7):c.423del (p.Leu142fs)
|
rs886041059
|
|
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)
|
rs750035706
|
|
NM_024298.5(MBOAT7):c.820_826del (p.Gly274fs)
|
rs886041061
|
|
NM_024298.5(MBOAT7):c.854+1G>C
|
rs886041060
|
|
NM_024735.5(FBXO31):c.847_852delinsA (p.Cys283fs)
|
rs587777703
|
|
NM_024824.5(ZC3H14):c.2204+17_2204+41del
|
rs571303442
|
|
NM_024824.5(ZC3H14):c.460C>T (p.Arg154Ter)
|
rs886037950
|
|
NM_024989.4(PGAP1):c.1090-2A>G
|
rs869025581
|
|
NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter)
|
rs869025578
|
|
NM_024989.4(PGAP1):c.1952+1G>T
|
rs587777202
|
|
NM_024989.4(PGAP1):c.274_276del (p.Pro92del)
|
rs869025579
|
|
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)
|
rs587777378
|
|
NM_024989.4(PGAP1):c.921_925del (p.Lys308fs)
|
rs869025580
|
|
NM_025083.5(EDC3):c.161T>C (p.Phe54Ser)
|
rs1057517676
|
|
NM_030805.4(LMAN2L):c.158G>A (p.Arg53Gln)
|
rs869320632
|
|
NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter)
|
rs727503765
|
|
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs)
|
rs727503764
|
|
NM_032982.4(CASP2):c.1156del (p.Tyr386fs)
|
|
|
NM_032982.4(CASP2):c.1174C>T (p.Gln392Ter)
|
|
|
NM_032982.4(CASP2):c.130C>T (p.Arg44Ter)
|
|
|
NM_032982.4(CASP2):c.876+1G>T
|
|
|
NM_033159.4(HYAL1):c.104del (p.Val35fs)
|
rs2109309063
|
|
NM_033159.4(HYAL1):c.751_787delinsTTCCGTGTGGCCCG (p.Val251fs)
|
rs1553713075
|
|
NM_053013.4(ENO3):c.1070G>A (p.Cys357Tyr)
|
rs2151144481
|
|
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)
|
rs560867570
|
|
NM_138413.4(HOGA1):c.700+4G>T
|
rs2041105506
|
|
NM_138413.4(HOGA1):c.834_834+1delinsTT
|
rs1564760008
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_138501.6(TECR):c.545C>T (p.Pro182Leu)
|
rs199469705
|
|
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)
|
rs375189195
|
|
NM_138775.3(ALKBH8):c.1675del (p.Arg559fs)
|
|
|
NM_138775.3(ALKBH8):c.1785del (p.Trp596fs)
|
rs1591234203
|
|
NM_138801.3(GALM):c.244C>T (p.Arg82Ter)
|
rs115413295
|
|
NM_138801.3(GALM):c.294del (p.Ile99fs)
|
rs751902026
|
|
NM_138801.3(GALM):c.799C>G (p.Arg267Gly)
|
rs1229797646
|
|
NM_144563.3(RPIA):c.627G>C (p.Trp209Cys)
|
rs1558699183
|
|
NM_144563.3(RPIA):c.762del (p.Asn255fs)
|
rs730880316
|
|
NM_145262.4(GLYCTK):c.1448del (p.Phe483fs)
|
rs121909447
|
|
NM_145262.4(GLYCTK):c.1558del (p.Leu520fs)
|
rs121909449
|
|
NM_145886.4(PIDD1):c.1804_1805del (p.Gly602fs)
|
rs2133768184
|
|
NM_145886.4(PIDD1):c.2116_2120del (p.Val706fs)
|
rs2133759109
|
|
NM_145886.4(PIDD1):c.2275-1G>A
|
rs2133753509
|
|
NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter)
|
rs1224174574
|
|
NM_152419.3(HGSNAT):c.525dup (p.Val176fs)
|
rs483352895
|
|
NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter)
|
rs121908283
|
|
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)
|
rs1553259614
|
|
NM_175914.5(HNF4A):c.1052T>G (p.Met351Arg)
|
rs137853338
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|
NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter)
|
rs137853335
|
|
NM_175914.5(HNF4A):c.583-2del
|
rs1600731198
|
|
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter)
|
rs137853334
|
|
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)
|
rs606231285
|
|
NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys)
|
rs1567502487
|
|
NM_198150.3(ARSK):c.560T>A (p.Leu187Ter)
|
rs762342379
|
|
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)
|
rs121917876
|
|
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter)
|
rs121917875
|
|
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)
|
rs137852859
|
|
NM_198586.3(NHLRC1):c.992del (p.Gly331fs)
|
rs587776543
|
|
NM_213606.4(SLC16A12):c.733C>T (p.Gln245Ter)
|
rs121909386
|
|
PCK1, 12-BP DEL, NT369
|
|
|
PKLR, 1-BP DEL
|
|
|
SLC17A5, 500-BP INS, NT978
|
|
|
SLC2A2, 1-BP INS, 793C
|
|
|
c.2475-2A-G
|
|
|