ClinVar Miner

List of variants studied for carbohydrate metabolism disease by OMIM

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1058
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HGVS dbSNP gnomAD frequency
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

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