ClinVar Miner

List of variants studied for carbohydrate metabolism disease by OMIM

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 738
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HGVS dbSNP
AGL, EcoRI FRAGMENT INS
AGXT, 1-BP INS, 33C
AJ298105.1:g.61273_107768delins6086
ALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8
BTD, 15-BP DEL/11-BP INS
DLAT, 3-BP DEL, 361GAA
FUCA1, 1-BP DEL, EX2
FUCA1, 1-BP DEL, EX3
FUCA1, 1-BP DEL, EX5
FUCA1, 2-EX DEL
G6PD A-
GAA, IVS1AS, G-C, -1
GALNS, 1-BP DEL, 1374T
GALNS, 2-BP DEL, 1343CA
GBE1, 253-BP DEL
GCK, VAL91LEU
GLYCTK, 1-BP DEL, 1448T
GLYCTK, 1-BP DEL, 1558C
GYG1, 1-BP DEL, 487G
HADH, 6-BP DEL
HADH, EX1DEL
HK1, 96-BP DEL
HLCS, 1-BP DEL, 780G
IDUA, 1-BP DEL, 1702G
LAMP2, 1-BP DEL, 1219A
LAMP2, 1-BP INS, 974A
LAMP2, 2-BP DEL, 1097AA
LCT, 4-BP DEL, NT4998
LDHA, 20-BP DEL, EX6
MANBA, IVS-AS, A-G, -2
MANBA, IVS13AS, G-A, -1
NC_000001.11:g.(?_42925375)_(42959176_?)del
NC_000023.11:g.(30700906_30707555)_(30728743_?)del
NC_000023.11:g.(30720096_30720620)_(30720742_30720851)del
NC_000023.11:g.(?_149478764)_(149505354_?)del
NEU1, 1-BP DEL, 1337C
NG_013368.1:g.5604_20276del
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala43_Trp44insAspAla) 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.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.904G>A (p.Gly302Arg) rs121964905
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000027.4(AGA):c.940+1G>T rs386833437
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter) rs121908528
NM_000035.4(ALDOB):c.-10-2043_624+62del
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) rs118204430
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243
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.1143-1G>C rs431905495
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
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.1463C>T (p.Pro488Leu) rs121964988
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.875+1G>A rs1328820332
NM_000147.4(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.4(FUCA1):c.1160G>A (p.Trp387Ter) rs80358197
NM_000147.4(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199
NM_000147.4(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450
NM_000147.4(FUCA1):c.244C>T (p.Gln82Ter) rs80358196
NM_000147.4(FUCA1):c.648C>A (p.Tyr216Ter) rs80358198
NM_000147.4(FUCA1):c.969+1G>A rs1570679652
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) rs387906505
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.230+4A>G rs587776757
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568
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_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) rs111033608
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter) rs104894577
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.761del (p.Ser254fs) rs1599335144
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
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.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.580T>C (p.Phe194Leu) rs111033726
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000158.3(GBE1):c.993-?_1618+?del
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) rs137852890
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887
NM_000158.4(GBE1):c.783-1G>A rs397515342
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893
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.641A>G (p.Tyr214Cys) rs104894015
NM_000167.5(GK):c.1237C>T (p.Arg413Ter) rs132630329
NM_000167.5(GK):c.1319A>T (p.Asp440Val) rs132630328
NM_000167.5(GK):c.1507T>C (p.Trp503Arg) rs132630330
NM_000167.5(GK):c.553-1G>C rs587776740
NM_000167.5(GK):c.862A>G (p.Asn288Asp) rs132630331
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg) rs267606851
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.14C>T (p.Thr5Ile) rs267606852
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn) rs137853585
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn) rs121918182
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) rs121918175
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
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.1521G>A (p.Trp507Ter) rs121918179
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu) rs121918183
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser) rs121918177
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser) rs137853249
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser) rs398122379
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
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.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.1205G>A (p.Trp402Ter) rs121965019
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.1598C>G (p.Pro533Arg) rs121965021
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.208C>T (p.Gln70Ter) rs121965020
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029
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_000208.4(INSR):c.3602G>A (p.Arg1201Gln) rs121913156
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000262.3(NAGA):c.577G>T (p.Glu193Ter) rs121434531
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp) rs121434530
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) rs121434533
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu) rs118204024
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) rs118204025
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)
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.844A>C (p.Met282Leu) rs2229137
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_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.1628A>C (p.Asp543Ala) rs121918194
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_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) rs104894034
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
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.758T>C (p.Ile253Thr) rs137852534
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.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.557G>A (p.Arg186His) rs137852290
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.1257T>A (p.Tyr419Ter) rs121918021
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.306-2A>G rs797044442
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.277del (p.Leu93fs) rs1596680941
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) rs137853589
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) rs137853591
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.1151C>T (p.Thr384Met) rs74315362
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) rs118204084
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter) rs771145576
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) rs118204089
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) rs118204083
NM_000308.3(CTSA):c.1238A>G (p.Tyr413Cys) rs137854543
NM_000308.3(CTSA):c.200A>G (p.Gln67Arg) rs137854541
NM_000308.3(CTSA):c.247T>C (p.Trp83Arg) rs28934603
NM_000308.3(CTSA):c.323C>T (p.Ser108Leu) rs137854542
NM_000308.3(CTSA):c.799T>A (p.Tyr267Asn) rs137854544
NM_000340.2(SLC2A2):c.1051del (p.Val351fs)
NM_000340.2(SLC2A2):c.109-2A>G rs1576838294
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro) rs121909747
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744
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.859C>T (p.Gln287Ter) rs121909746
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn) rs121912668
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly) rs121912669
NM_000352.4(ABCC8):c.-190C>G rs1395224084
NM_000352.4:c.(?_1818)_(1923_?)del
NM_000352.5(ABCC8):c.1672-20A>G rs931436550
NM_000352.5(ABCC8):c.2292-1G>A rs1564905676
NM_000352.6(ABCC8):c.1333-1013A>G
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val) rs72559723
NM_000352.6(ABCC8):c.3989-9G>A rs151344623
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.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.512dup (p.Thr172fs) rs1564980510
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr) rs121964848
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845
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.944G>A (p.Arg315His) rs74575103
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.1444C>T (p.Arg482Cys) rs72555365
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) rs72555363
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)
NM_000404.4(GLB1):c.247T>C (p.Tyr83His) rs72555364
NM_000404.4(GLB1):c.75+2T>G
NM_000404.4(GLB1):c.818G>T (p.Trp273Leu) rs72555362
NM_000434.4(NEU1):c.1021+1G>C rs1486980139
NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro) rs193922915
NM_000434.4(NEU1):c.1129G>T (p.Glu377Ter) rs104893971
NM_000434.4(NEU1):c.239C>T (p.Pro80Leu) rs104893985
NM_000434.4(NEU1):c.272T>G (p.Leu91Arg) rs104893972
NM_000434.4(NEU1):c.625del (p.Glu209fs) rs1581820081
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583
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.718T>C (p.Trp240Arg) rs104893978
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) rs104893983
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) rs104893977
NM_000434.4(NEU1):c.87G>A (p.Trp29Ter) rs104893984
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981
NM_000434.4(NEU1):c.946C>T (p.Pro316Ser) rs104893979
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188
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_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154
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.1156C>T (p.Arg386Cys) rs118204437
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.178G>A (p.Asp60Asn) rs118204447
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.337A>T (p.Ile113Phe) rs118204438
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) rs118204449
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446
NM_000525.3(KCNJ11):c.-134G>T rs387906398
NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro) rs28936678
NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg) rs1404429785
NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu) rs104894237
NM_000525.3(KCNJ11):c.776A>G (p.His259Arg) rs104894248
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576
NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del)
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677
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_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128
NM_000642.3(AGL):c.1735+1G>T rs199922945
NM_000642.3(AGL):c.3439A>G (p.Arg1147Gly) rs267606639
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg) rs118203964
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser) rs28933391
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
NM_000925.4(PDHB):c.302T>C (p.Met101Thr)
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys) rs28935769
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)
NM_000925.4(PDHB):c.916T>C (p.Cys306Arg)
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046
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.770A>G (p.Lys257Arg) rs28940884
NM_001008216.2(GALE):c.937C>A (p.Leu313Met) rs3180383
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885
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.1828G>A (p.Ala610Thr) rs28940589
NM_001040716.2(PC):c.2229G>T (p.Met743Ile) rs28940590
NM_001040716.2(PC):c.2876dup (p.Glu961fs) rs1565209327
NM_001040716.2(PC):c.434T>C (p.Val145Ala) rs28940591
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241
NM_001041.4(SI):c.1022T>C (p.Leu341Pro) rs267607049
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.4(SI):c.1859T>C (p.Leu620Pro) rs121912613
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro) rs121912611
NM_001041.4(SI):c.350A>G (p.Gln117Arg) rs121912612
NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr) rs121912614
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168
NM_001064.4(TKT):c.633G>A (p.Trp211Ter) rs868953318
NM_001064.4(TKT):c.952C>T (p.Arg318Cys) rs782092363
NM_001128127.2(GK):c.42765-52ins316
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246
NM_001164277.1(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491
NM_001164277.1(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) rs121908979
NM_001166290.2(KCNJ11):c.-16-210C>A rs104894236
NM_001184721.1(GYG1):c.609-2567G>A rs727502870
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.486-60C>G rs2515904
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu) rs137852328
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001365304.1(LOC112694756):c.*1128G>A rs121909534
NM_001365304.1(LOC112694756):c.*895A>G rs121909533
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001467.6(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490
NM_001467.6(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489
NM_001724.5(BPGM):c.185G>A (p.Arg62Gln)
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys) rs121964925
NM_001724.5(BPGM):c.269G>A (p.Arg90His)
NM_001724.5(BPGM):c.61del (p.Arg21fs) rs786205092
NM_001739.2(CA5A):c.555G>A (p.Lys185=) rs147623570
NM_001739.2(CA5A):c.619-3421_774+502del
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro) rs587777316
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240
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_002103.5(GYS1):c.1384C>T (p.Arg462Ter) rs121434584
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter) rs121908936
NM_002299.4(LCT):c.804G>C (p.Gln268His) rs121908937
NM_002300.7(LDHB):c.19A>G (p.Lys7Glu) rs118203897
NM_002300.7(LDHB):c.385A>C (p.Ser129Arg) rs118203896
NM_002300.7(LDHB):c.515G>A (p.Arg172His) rs118203895
NM_002300.7(LDHB):c.973T>C (p.Trp325Arg) rs267607212
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr) rs202197769
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter) rs137852546
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.1620+1G>A rs113993981
NM_002863.5(PYGL):c.1768+1G>A rs113993982
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_003041.3(SLC5A2):c.500delA (p.Gln167Argfs) rs267607067
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.1961A>G (p.Asn654Ser) rs61742739
NM_003041.4(SLC5A2):c.265G>A (p.Ala89Thr) rs886037850
NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu) rs398122802
NM_003051.3(SLC16A1):c.-202G>A rs387906403
NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG rs606231172
NM_003477.3(PDHX):c.1024-1G>A rs724159830
NM_003477.3(PDHX):c.1183-3088_1247+760del
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.3(PDHX):c.620del (p.Pro207fs) rs724159979
NM_003477.3(PDHX):c.641+1G>A rs724159829
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941
NM_003477.3(PDHX):c.88_91del (p.Lys30fs) rs724159828
NM_003477.3(PDHX):c.965_1023del (p.Asp322fs) rs1554989996
NM_004130.3(GYG1):c.143+3G>C rs370652040
NM_004130.3(GYG1):c.248C>T (p.Thr83Met) rs267606858
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_004130.3(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004130.3(GYG1):c.970C>T (p.Arg324Ter) rs727502869
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_005327.5(HADH):c.636+471G>T rs786200932
NM_005327.5(HADH):c.706C>T (p.Arg236Ter) rs375717077
NM_005327.5(HADH):c.773C>T (p.Pro258Leu) rs137853103
NM_005566.4(LDHA):c.985G>T (p.Glu329Ter) rs121912479
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro) rs119103254
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
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.1628A>C (p.Lys543Thr) rs119103252
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1725del (p.Lys575fs) rs786200874
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253
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.2056G>A (p.Gly686Arg) rs144081869
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
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.247G>T (p.Glu83Ter) rs121434335
NM_005908.4(MANBA):c.375A>G (p.Arg125=) rs771587242
NM_005908.4(MANBA):c.563_572dup (p.Trp192_Gly193insTer) rs752343321
NM_005908.4(MANBA):c.960+1G>A rs890870104
NM_006488.3(KHK):c.118G>A (p.Gly40Arg) rs104893643
NM_006488.3(KHK):c.127G>A (p.Ala43Thr) rs104893644
NM_006516.3(SLC2A1):c.101A>T (p.Asn34Ile) rs80359812
NM_006516.3(SLC2A1):c.1347C>A (p.Tyr449Ter) rs80359828
NM_006516.3(SLC2A1):c.1366A>T (p.Lys456Ter) rs80359829
NM_006516.3(SLC2A1):c.272G>A (p.Gly91Asp) rs80359814
NM_006516.3(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.3(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061
NM_006516.3(SLC2A1):c.283_284delinsAT (p.Ser95Ile) rs267607060
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.3(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.3(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006755.2(TALDO1):c.512_514del (p.Ser171del) rs137853085
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) rs751425603
NM_006755.2(TALDO1):c.669C>G (p.Tyr223Ter)
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867
NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp) rs753787975
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys) rs869320760
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) rs869312808
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667
NM_007180.3(TREH):c.90-9_106del rs527655595
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.248_249del (p.Val83fs) rs672601351
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322
NM_013276.3(SHPK):c.211G>T (p.Glu71Ter) rs748544120
NM_013276.3(SHPK):c.355C>T (p.Arg119Ter) rs144071313
NM_013995.2(LAMP2):c.14del (p.Arg5fs) rs1183994410
NM_013995.2(LAMP2):c.36_42del (p.Gly13fs) rs1436181133
NM_013995.2(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_013995.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_013995.2(LAMP2):c.741+1G>A rs1251075016
NM_013995.2(LAMP2):c.864+5G>C rs1352584474
NM_013995.2(LAMP2):c.883dup (p.Tyr295fs) rs1327363415
NM_013995.2(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_016203.4(PRKAG2):c.1151G>C (p.Arg384Thr) rs730882148
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016286.4(DCXR):c.52+1G>A rs375243154
NM_016286.4(DCXR):c.583del (p.His195fs) rs747887427
NM_018297.4(NGLY1):c.1067A>G (p.Glu356Gly)
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954
NM_018297.4(NGLY1):c.1202GAA[1] (p.Arg402del) rs587777266
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs) rs587777265
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter) rs528583612
NM_018297.4(NGLY1):c.1837del (p.Ile613fs)
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.849T>G (p.Cys283Trp)
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter) rs267606938
NM_018444.4(PDP1):c.500dup (p.Leu167fs)
NM_018444.4(PDP1):c.851_853del (p.Leu284del) rs1554572756
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) rs121918423
NM_021957.4(GYS2):c.1336C>G (p.His446Asp) rs121918425
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420
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.736C>T (p.Arg246Ter) rs121918419
NM_021957.4(GYS2):c.941+1G>C rs587776831
NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp) rs767748011
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235
NM_031229.4(RBCK1):c.121_122del (p.Leu41fs) rs727503763
NM_031229.4(RBCK1):c.553C>T (p.Gln185Ter) rs727503762
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs) rs730880329
NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter) rs727503765
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter) rs587777561
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764
NM_033159.4(HYAL1):c.751_787delinsTTCCGTGTGGCCCG (p.Val251fs) rs1553713075
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys) rs104893743
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) rs121918404
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) rs267606763
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.700+4G>T
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262
NM_138413.4(HOGA1):c.834_834+1delinsTT rs1564760008
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138801.3(GALM):c.244C>T (p.Arg82Ter)
NM_138801.3(GALM):c.294del (p.Ile99fs)
NM_138801.3(GALM):c.424G>A (p.Gly142Arg)
NM_138801.3(GALM):c.799C>G (p.Arg267Gly)
NM_138801.3(GALM):c.932G>A (p.Trp311Ter)
NM_144563.3(RPIA):c.404C>T (p.Ala135Val) rs121918591
NM_144563.3(RPIA):c.627G>C (p.Trp209Cys) rs1558699183
NM_144563.3(RPIA):c.762del (p.Asn255fs) rs730880316
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) rs121908286
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.234+1G>A rs483352908
NM_152419.3(HGSNAT):c.372-2A>G rs483352896
NM_152419.3(HGSNAT):c.493+1G>A rs193066451
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter) rs121908283
NM_213606.4(SLC16A12):c.733C>T (p.Gln245Ter) rs121909386
PC, 2-BP DEL, 2491GT
PC, IVS15, 4-BP DEL, TAGG, +2-5
PCK1, 12-BP DEL, NT369
PDHA1, 13-BP INS, EX10
PFKM, IVS5DS, G-A, +1
PHKA1, IVSL, G-C, +1
PHKA2, 6-BP INS, NT3331
PHKB, 1-BP INS
PHKG2, 1-BP INS
PKLR, -83G-C
PKLR, 1-BP DEL
PKLR, 1-BP DEL, 823G
PYGM, 1-BP INS, A/8-BP DEL, CODON 387
PYGM, IVS14, G-A, +1
SGSH, 1-BP DEL, 1091C
SGSH, 11-BP DEL, NT1284
SGSH, 9-BP DEL, NT1307
SLC2A1, 12-BP DEL, NT1022
SLC2A1, 3-BP INS, TAT
SLC2A2, 1-BP DEL
SLC2A2, 1-BP INS, 793C
SLC2A2, 1264G-A
SLC2A2, 469C-T
SLC37A4, 12-BP INS, NT1103
SLC37A4, 170-BP DEL, NT148
SLC37A4, 4-BP DEL, 2-BP INS, NT1094
SLC37A4, 794G-A
SLC37A4, IVS1, G-A, +1
SLC37A4, IVS7, G-T, +1
SLC37A4, IVS8, 4-BP DEL

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