ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1965
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HGVS dbSNP
NC_000001.10:g.(?_100381624_100382277del
NC_000001.10:g.100330092T>A rs794729208
NC_000001.11:g.(?_99921514)_(99921671_?)del
NC_000001.11:g.(?_99921524)_(99921661_?)del
NC_000003.12:g.(?_81490387)_(81705633_?)del
NC_000003.12:g.(?_81490397)_(81490473_?)del
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000009.11:g.(?_104169266_104189861del
NC_000009.11:g.(?_104187883_104189197del
NC_000009.11:g.(?_104187884_104189197del
NC_000009.11:g.(?_34649002_34650433del
NC_000009.11:g.104198025_104198100del
NC_000009.12:g.94620329_94620491del163 rs1563984164
NC_000011.10:g.(?_64746639)_(64747378_?)del
NC_000011.10:g.(?_64758236)_(64758714_?)del
NC_000012.11:g.(?_65094311_65130836del
NC_000012.11:g.(?_65133151)_(65146547_?)dup
NC_000012.12:g.(?_64716721)_(64723133_?)del
NC_000016.10:g.47614206_47644831del
NC_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NC_000017.10:g.(?_73754587_73758319del
NC_000017.10:g.(?_78086381_78091497del
NC_000017.11:g.(?_80107537)_(80113386_?)del
NC_000017.11:g.42910914_42911426del
NC_000019.9:g.(?_12758358_12759516del
NC_000023.11:g.18895137dup
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.121G>T (p.Glu41Ter) rs1560952256
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala43_Trp44insAspAla) rs386833418
NM_000027.4(AGA):c.192T>A (p.Cys64Ter) rs386833419
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.28del (p.Leu10fs) rs1057517062
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.369_373del (p.His124fs) rs386833424
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
NM_000027.4(AGA):c.395-8A>G rs386833426
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427
NM_000027.4(AGA):c.439T>C (p.Ser147Pro) rs386833428
NM_000027.4(AGA):c.44T>G (p.Leu15Arg) rs386833429
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000027.4(AGA):c.490C>T (p.Gln164Ter) rs1057517329
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430
NM_000027.4(AGA):c.508-2A>G rs986682657
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.623-2A>G rs1483909684
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431
NM_000027.4(AGA):c.698+1G>A rs1057517175
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.70del (p.Ser24fs) rs1057517239
NM_000027.4(AGA):c.754G>C (p.Gly252Arg) rs386833432
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer) rs386833435
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.940+1G>T rs386833437
NM_000027.4(AGA):c.941-2A>G rs1553993921
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter) rs1201784742
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.577dup (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
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.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000035.4(ALDOB):c.*516T>A
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr) rs900220679
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+1G>A
NM_000035.4(ALDOB):c.112+1del rs1057516534
NM_000035.4(ALDOB):c.113-1G>A
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.146del (p.Val49fs)
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)
NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter)
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter)
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.287del (p.Asn96fs) rs1554702890
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>A rs1402966846
NM_000035.4(ALDOB):c.325-1G>C
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.379+1G>T
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
NM_000035.4(ALDOB):c.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.420del (p.Asp141fs) rs1057517421
NM_000035.4(ALDOB):c.439A>T (p.Lys147Ter)
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter)
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)
NM_000035.4(ALDOB):c.540+1G>C
NM_000035.4(ALDOB):c.541-153_800-175del
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.546del (p.Leu183fs) rs1057517091
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.625-1G>A rs1564077542
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.62del (p.Gln21fs)
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)
NM_000035.4(ALDOB):c.683_688dup (p.Lys230_Pro231insMetLeu)
NM_000035.4(ALDOB):c.689del (p.Lys230fs)
NM_000035.4(ALDOB):c.712dup (p.His238fs) rs1554702425
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter) rs118204426
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
NM_000035.4(ALDOB):c.799+2T>A
NM_000035.4(ALDOB):c.800-2A>C rs199965465
NM_000035.4(ALDOB):c.812del (p.Leu271fs) rs1554702353
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) rs1554702325
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
NM_000035.4:c.-10_624del
NM_000035.4:c.1_624del
NM_000046.4(ARSB):c.313-7412_690+1601del
NM_000046.4:c.(312+1_313-1_690+1_691-1)del
NM_000046.5(ARSB):c.1048A>T (p.Ile350Phe) rs79970603
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe) rs756671977
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro) rs1554079284
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.1127T>A (p.Val376Glu) rs1554079268
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.1140_1142+2del
NM_000046.5(ARSB):c.1142+2T>A rs781510986
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.114del (p.Ala39fs) rs1554032252
NM_000046.5(ARSB):c.1161dup (p.Arg388fs) rs1554074135
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys) rs1554074132
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1214-2A>G rs1554069808
NM_000046.5(ARSB):c.1214-2A>T
NM_000046.5(ARSB):c.1279del (p.Thr427fs) rs1554069791
NM_000046.5(ARSB):c.1286dup (p.His430fs) rs1554069786
NM_000046.5(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter) rs769996056
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter) rs1209412483
NM_000046.5(ARSB):c.1415T>C (p.Leu472Pro) rs1211360114
NM_000046.5(ARSB):c.1438dup (p.Asp480fs) rs1167459660
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343
NM_000046.5(ARSB):c.1475del (p.Pro492fs) rs1554069669
NM_000046.5(ARSB):c.1482del (p.Ile494fs) rs1554069668
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter) rs1554032222
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter) rs1251438062
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.176A>T (p.Asp59Val) rs1179935748
NM_000046.5(ARSB):c.207_213dup (p.Leu72fs) rs1554032160
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.219del (p.Asp73fs) rs1554032153
NM_000046.5(ARSB):c.223_232del (p.Leu75fs) rs1554032145
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.245del (p.Leu82fs) rs750845916
NM_000046.5(ARSB):c.247_248del (p.Asp83fs) rs1554032131
NM_000046.5(ARSB):c.253T>C (p.Tyr85His) rs1554032129
NM_000046.5(ARSB):c.263dup (p.Pro89fs) rs1554032118
NM_000046.5(ARSB):c.281C>A (p.Ser94Ter) rs1554032099
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter) rs1554032094
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg) rs886039914
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln) rs1554032090
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg) rs1554032090
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter) rs1554088099
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939
NM_000046.5(ARSB):c.375dup (p.Glu126Ter) rs1554088081
NM_000046.5(ARSB):c.395T>C (p.Leu132Pro) rs1554088079
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.441C>G (p.His147Gln)
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.509T>G (p.Leu170Arg) rs1484763838
NM_000046.5(ARSB):c.511G>A (p.Gly171Ser) rs1554087445
NM_000046.5(ARSB):c.532C>G (p.His178Asp) rs1554087441
NM_000046.5(ARSB):c.533A>T (p.His178Leu) rs1554087439
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.630_636del (p.Met209_Tyr210insTer) rs1554087406
NM_000046.5(ARSB):c.659_660del (p.Ile220fs) rs1554087395
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121
NM_000046.5(ARSB):c.691-1G>A rs778868348
NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs) rs1554086417
NM_000046.5(ARSB):c.750_754delinsCCTGAAGTCAAG (p.Glu250fs) rs1554086417
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.5(ARSB):c.785dup (p.Asn262fs) rs749015246
NM_000046.5(ARSB):c.883_884dup (p.Ile296fs) rs1554086370
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn) rs1554086368
NM_000046.5(ARSB):c.903C>G (p.Asn301Lys) rs147495977
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg) rs748454316
NM_000046.5(ARSB):c.995T>G (p.Val332Gly) rs1554079312
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter)
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter)
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.118+1G>T rs1554396908
NM_000108.5(DLD):c.1236+1G>T rs1554400483
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
NM_000108.5(DLD):c.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.198+1G>A rs1554398193
NM_000108.5(DLD):c.199-1G>A rs1554398264
NM_000108.5(DLD):c.223dup (p.Thr75fs) rs1057517214
NM_000108.5(DLD):c.268-2A>G rs1554398461
NM_000108.5(DLD):c.325A>T (p.Arg109Ter)
NM_000108.5(DLD):c.338-1G>T
NM_000108.5(DLD):c.338-2_338-1delinsT rs1554398624
NM_000108.5(DLD):c.345del (p.Val116fs) rs1554398625
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.583-1G>C
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.684+1G>T rs780025714
NM_000108.5(DLD):c.748G>T (p.Gly250Ter)
NM_000108.5(DLD):c.802C>T (p.Gln268Ter)
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160
NM_000108.5(DLD):c.82del (p.Ser28fs) rs764704217
NM_000108.5(DLD):c.865dup (p.Ile289fs) rs1554400179
NM_000108.5(DLD):c.875+1G>A rs1328820332
NM_000108.5(DLD):c.904G>T (p.Glu302Ter)
NM_000108.5(DLD):c.936C>A (p.Cys312Ter)
NM_000147.4(FUCA1):c.151_160del (p.Ala51fs) rs1570692560
NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
NM_000147.5(FUCA1):c.662_662+8del
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter)
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.230+1G>C rs863224023
NM_000151.4(G6PC1):c.231-1G>A rs1555559279
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg) rs756632286
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile) rs1597988331
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
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.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC1):c.446+1G>C rs1597989983
NM_000151.4(G6PC1):c.446+2T>C rs1597989985
NM_000151.4(G6PC1):c.447-1G>A rs1411037881
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)
NM_000151.4(G6PC1):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter) rs1597990921
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter) rs1485038937
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.-32-1G>C rs1555598460
NM_000152.5(GAA):c.-32-2A>G
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-22T>G rs762260678
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527
NM_000152.5(GAA):c.1099del (p.Trp367fs) rs1057516785
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg) rs752002666
NM_000152.5(GAA):c.1130del (p.Gly377fs) rs754134578
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+2T>C rs1057516215
NM_000152.5(GAA):c.1194+5G>A
NM_000152.5(GAA):c.1195-1G>A rs1555600166
NM_000152.5(GAA):c.1195-2A>C
NM_000152.5(GAA):c.1195-2A>G
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1326+2T>C rs1434761678
NM_000152.5(GAA):c.1327-2A>G
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1551+1G>T rs770780848
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
NM_000152.5(GAA):c.1567del (p.Ser523fs) rs1057517267
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382
NM_000152.5(GAA):c.1754+1_1754+7del
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1836C>G (p.His612Gln)
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1888+1G>A
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) rs1057518106
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.1A>T (p.Met1Leu)
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1G>T rs1057516928
NM_000152.5(GAA):c.2040+1del rs1555601662
NM_000152.5(GAA):c.2040G>A (p.Leu680=)
NM_000152.5(GAA):c.2041-1G>A
NM_000152.5(GAA):c.2061del (p.Phe687fs) rs1064796706
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
NM_000152.5(GAA):c.2161dup (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2189+1G>T rs1209887739
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) rs1567838823
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2617dup (p.Tyr873fs) rs1555603131
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2647-1_2648del rs1555603216
NM_000152.5(GAA):c.2647-7G>A rs192679574
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) rs121907939
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
NM_000152.5(GAA):c.2853del (p.Trp951fs) rs1555603434
NM_000152.5(GAA):c.2T>C (p.Met1Thr)
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661
NM_000152.5(GAA):c.376del (p.Trp126fs) rs1555598824
NM_000152.5(GAA):c.393del (p.Ser132fs) rs1057517381
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.448dup (p.Ala150fs) rs1555598880
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del)
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.55del (p.Val19fs) rs1555598544
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219
NM_000152.5(GAA):c.671G>C (p.Arg224Pro)
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.692+5G>T rs763027848
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) rs1555599637
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.858+2T>A rs1555599713
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.904G>T (p.Glu302Ter)
NM_000152.5(GAA):c.917C>A (p.Ser306Ter)
NM_000152.5(GAA):c.934del (p.Leu312fs) rs886042358
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) rs1026685248
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) rs1311294794
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter)
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) rs915070690
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.479C>A (p.Ser160Ter)
NM_000154.2(GALK1):c.612-1G>A rs1555748556
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) rs1555748534
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter)
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter)
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) rs1555748940
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000154.2(GALK1):c.944+1G>T rs113464656
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1059+1G>T rs1554709516
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.4(GALT):c.132del (p.Ser45fs) rs1554709139
NM_000155.4(GALT):c.14_23dup (p.Gln9fs) rs1554709110
NM_000155.4(GALT):c.164del (p.Gly55fs) rs1554709146
NM_000155.4(GALT):c.180del (p.Gln60fs) rs1554709148
NM_000155.4(GALT):c.189dup (p.Thr64fs) rs1554709151
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.290A>T (p.Asn97Ile) rs111033669
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) rs1587236467
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358
NM_000155.4(GALT):c.378-2A>G
NM_000155.4(GALT):c.378-2A>T rs1554709280
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.428C>G (p.Ser143Trp)
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.502G>A (p.Val168Met) rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.508-2_509del
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.513dup (p.Glu172Ter) rs886044409
NM_000155.4(GALT):c.514G>T (p.Glu172Ter)
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725
NM_000155.4(GALT):c.561C>A (p.Cys187Ter)
NM_000155.4(GALT):c.561_564+9del rs1554709342
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.564+1G>T rs111033723
NM_000155.4(GALT):c.565-2A>G rs111033731
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.575G>A (p.Ser192Asn) rs111033734
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) rs111033744
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter) rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.670C>T (p.Gln224Ter)
NM_000155.4(GALT):c.670del (p.Gln224fs) rs1057516883
NM_000155.4(GALT):c.687+1G>T rs193922250
NM_000155.4(GALT):c.688-1G>C
NM_000155.4(GALT):c.688-2A>C rs398123185
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.83-2A>G rs1057517415
NM_000155.4(GALT):c.853A>T (p.Lys285Ter)
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter)
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) rs1554709447
NM_000155.4(GALT):c.892A>G (p.Met298Val)
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180
NM_000155.4(GALT):c.912dup (p.Thr305fs) rs746285782
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.959C>T (p.Ala320Val) rs367543272
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.979_986del (p.Leu327fs) rs1554709502
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.4(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000158.4(GBE1):c.143+2T>C
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.4(GBE1):c.1618+1G>A
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter) rs1559637815
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593
NM_000158.4(GBE1):c.1803+1G>A
NM_000158.4(GBE1):c.1803+2T>C rs539203557
NM_000158.4(GBE1):c.1804-2A>T
NM_000158.4(GBE1):c.555+1G>T rs759707498
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000158.4(GBE1):c.956A>G (p.His319Arg)
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.992+2T>G
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) rs1238361161
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu) rs1264172545
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000181.4(GUSB):c.893C>T (p.Ala298Val) rs1451709678
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1097del (p.Ser366fs) rs1598738720
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.1147del (p.His383fs) rs1598738369
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn) rs1598758001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs)
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer) rs1555624111
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) rs1555624080
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370
NM_000199.5(SGSH):c.664-1G>T rs1555621425
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.745+1G>C
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.5(SGSH):c.88_88+67del
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.1024C>T (p.His342Tyr)
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) rs1602730439
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
NM_000202.8(IDS):c.121_123del (p.Leu41del)
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter)
NM_000202.8(IDS):c.1254del (p.Pro419fs)
NM_000202.8(IDS):c.1259del (p.Pro420fs)
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs)
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs)
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) rs782347729
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly)
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) rs1602725543
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter)
NM_000202.8(IDS):c.275T>C (p.Leu92Pro)
NM_000202.8(IDS):c.328A>G (p.Arg110Gly)
NM_000202.8(IDS):c.356del (p.Ile119fs)
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) rs193302911
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000202.8(IDS):c.737del (p.Asn246fs)
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) rs1602740912
NM_000202.8(IDS):c.922G>C (p.Asp308His)
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896
NM_000203.5(IDUA):c.1190-2A>T rs994902207
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
NM_000203.5(IDUA):c.1402+1G>A rs398123254
NM_000203.5(IDUA):c.1403-1G>T rs4690223
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564
NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter)
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503
NM_000203.5(IDUA):c.1524+1G>A
NM_000203.5(IDUA):c.1524+1G>T rs1553917483
NM_000203.5(IDUA):c.1525-11_1536del
NM_000203.5(IDUA):c.158+1G>A rs1264013707
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.159-2A>C
NM_000203.5(IDUA):c.159-2A>G
NM_000203.5(IDUA):c.1591del (p.Arg531fs) rs1553917558
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1650+1G>A rs1434521185
NM_000203.5(IDUA):c.1650+2C>G rs1553917580
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1651-2A>G
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1728-1G>A rs1249951282
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1828+1G>C rs919151683
NM_000203.5(IDUA):c.1829-1G>A rs745915863
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs) rs1553917735
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs) rs1553917737
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
NM_000203.5(IDUA):c.1867del (p.Leu623fs) rs1553917747
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) rs1553917746
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240
NM_000203.5(IDUA):c.299+1G>T rs398123259
NM_000203.5(IDUA):c.299_299+1delinsAT
NM_000203.5(IDUA):c.300-1G>A rs1553916890
NM_000203.5(IDUA):c.390del (p.Phe130fs) rs1560545883
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) rs1553916950
NM_000203.5(IDUA):c.493+1G>A rs1553916957
NM_000203.5(IDUA):c.512_513del (p.His171fs)
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter)
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.589+1G>A rs1293215555
NM_000203.5(IDUA):c.590-2A>G
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871
NM_000203.5(IDUA):c.65del (p.Pro22fs)
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453
NM_000203.5(IDUA):c.793-1G>A rs762779421
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) rs1553917192
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000262.3(NAGA):c.324+1G>A rs140673721
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.759+1_759+8del
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) rs376090795
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) rs1180591588
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg)
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1112del (p.Gly371fs) rs1555622250
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) rs1485628563
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg) rs1567893399
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs) rs1555621402
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter) rs1555622351
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs) rs1555622354
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) rs1396150639
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
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.1705C>T (p.Gln569Ter) rs1555622441
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter) rs1555622443
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs) rs1555622505
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) rs1555622533
NM_000263.4(NAGLU):c.193del (p.Tyr65fs) rs1555621432
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) rs527236038
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037
NM_000263.4(NAGLU):c.1995del (p.Leu666fs) rs1555622545
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs) rs1555622559
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup)
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly) rs1599253805
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) rs1567890328
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.383+1G>T rs727504028
NM_000263.4(NAGLU):c.384-1G>A rs764134891
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter)
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) rs1555621397
NM_000263.4(NAGLU):c.531+1G>A
NM_000263.4(NAGLU):c.532-1G>C
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs) rs1567891258
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter)
NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu)
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter)
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs) rs1555622000
NM_000263.4(NAGLU):c.809del (p.His270fs) rs1555622002
NM_000263.4(NAGLU):c.82del (p.Glu28fs) rs1430122594
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs) rs756865833
NM_000263.4(NAGLU):c.867del (p.Ile290fs) rs1555622019
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.57+2531T>C
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879
NM_000289.6(PFKM):c.1127+1G>T
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1191+1G>A rs746348793
NM_000289.6(PFKM):c.1413-2A>G rs1430517061
NM_000289.6(PFKM):c.1500+1G>A
NM_000289.6(PFKM):c.1501-2del
NM_000289.6(PFKM):c.159+1G>T
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.936+1G>A
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) rs1569344469
NM_000292.3(PHKA2):c.1042-1G>A
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) rs1601747985
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.1714+1G>A rs1556002344
NM_000292.3(PHKA2):c.1A>G (p.Met1Val)
NM_000292.3(PHKA2):c.2518-1G>A
NM_000292.3(PHKA2):c.2597+1G>A rs1210626722
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.285+2_285+5del
NM_000292.3(PHKA2):c.3283-1G>C
NM_000292.3(PHKA2):c.3336+2T>A rs1555988479
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs)
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)
NM_000292.3(PHKA2):c.3644_3646dup (p.Thr1216_Arg1217insIle)
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) rs1601776276
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
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.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953
NM_000293.3(PHKB):c.1797+1G>C
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445
NM_000294.3(PHKG2):c.661G>A (p.Val221Met) rs1596687577
NM_000294.3(PHKG2):c.96-11G>A
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000308.4(CTSA):c.112del (p.Leu38fs)
NM_000308.4(CTSA):c.601-2A>G rs778159802
NM_000308.4(CTSA):c.869+1G>C
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) rs1553785033
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744
NM_000340.2(SLC2A2):c.775+1G>A rs756874949
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252
NM_000352.5(ABCC8):c.1012-2A>G rs1554938866
NM_000352.5(ABCC8):c.1177-1G>A rs1167993548
NM_000352.5(ABCC8):c.1467+1G>T rs1554933415
NM_000352.5(ABCC8):c.1467+2T>C rs1057517128
NM_000352.5(ABCC8):c.1468-2A>C rs1057516946
NM_000352.5(ABCC8):c.148+2T>G rs1554949176
NM_000352.5(ABCC8):c.149-1G>A rs1554948445
NM_000352.5(ABCC8):c.1671+1G>C rs1057516509
NM_000352.5(ABCC8):c.1817+1G>T rs1554926476
NM_000352.5(ABCC8):c.1817+2_1817+6del rs1554926465
NM_000352.5(ABCC8):c.2041-1G>A rs1554924630
NM_000352.5(ABCC8):c.2041-21G>A rs746714109
NM_000352.5(ABCC8):c.2116+1G>A rs1554924540
NM_000352.5(ABCC8):c.2116+1G>T rs1554924540
NM_000352.5(ABCC8):c.2116+2T>C rs786204676
NM_000352.5(ABCC8):c.2222+1G>A rs1554923999
NM_000352.5(ABCC8):c.2255+2T>C rs1057516589
NM_000352.5(ABCC8):c.2556+1G>A rs749271190
NM_000352.5(ABCC8):c.2694+1G>C rs774574576
NM_000352.5(ABCC8):c.2695-1G>C rs1057517420
NM_000352.5(ABCC8):c.290+2T>C rs1554948310
NM_000352.5(ABCC8):c.3151_3162+15del rs1554912381
NM_000352.5(ABCC8):c.3399+1G>A rs1554911369
NM_000352.5(ABCC8):c.3557+1G>A rs1554910610
NM_000352.5(ABCC8):c.3557+1G>T rs1554910610
NM_000352.5(ABCC8):c.3557+1del rs1554910616
NM_000352.5(ABCC8):c.3650+2T>A rs1057517274
NM_000352.5(ABCC8):c.3753+1G>A rs1554906786
NM_000352.5(ABCC8):c.3754-1G>A rs1554906449
NM_000352.5(ABCC8):c.3754-2A>G rs1554906450
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
NM_000352.5(ABCC8):c.4119+1del rs1057517050
NM_000352.5(ABCC8):c.4120-1G>T rs1057517406
NM_000352.5(ABCC8):c.413-2A>G rs1057517015
NM_000352.5(ABCC8):c.4308-2A>G rs886041391
NM_000352.5(ABCC8):c.4412-13G>A rs1008906426
NM_000352.5(ABCC8):c.4412-2A>G rs1554904136
NM_000352.5(ABCC8):c.4545+2T>G rs1554904006
NM_000352.5(ABCC8):c.579+2T>A rs1449198328
NM_000352.5(ABCC8):c.823-1G>A rs1247430874
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter) rs765090096
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) rs786204717
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del) rs760520781
NM_000352.6(ABCC8):c.2202del (p.Ala736fs) rs1554924035
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2683dup (p.His895fs) rs1057517019
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.6(ABCC8):c.2921-9G>A rs757171524
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter) rs1057516585
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs) rs786204542
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) rs1263082097
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter) rs1057516439
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs) rs1554910621
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs) rs1554905787
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs) rs1057516890
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg) rs886039877
NM_000352.6(ABCC8):c.415del (p.Leu139fs) rs1057516591
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs) rs1554904904
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs) rs1554904554
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp) rs1591705863
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu) rs193922405
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs) rs1057516655
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln) rs746480424
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs) rs1554903370
NM_000352.6(ABCC8):c.526dup (p.Val176fs)
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter) rs1057517139
NM_000352.6(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu)
NM_000404.2(GLB1):c.245C>T rs72555393
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881
NM_000404.4(GLB1):c.1479+1G>A rs1022476871
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs) rs1553606130
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter) rs1553606091
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443
NM_000404.4(GLB1):c.1685dup (p.Asp564fs)
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.4(GLB1):c.2006dup (p.Asn669fs)
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370
NM_000404.4(GLB1):c.245+1G>A rs778423653
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.397-1G>A rs398123353
NM_000404.4(GLB1):c.425_426del (p.Lys142fs) rs1553612150
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557
NM_000404.4(GLB1):c.626del (p.His209fs) rs1553611044
NM_000404.4(GLB1):c.645_648del (p.Val216fs) rs1553611040
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2T>C
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.955+2T>G
NM_000434.4(NEU1):c.838C>T (p.Arg280Ter)
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) rs1563983269
NM_000507.4(FBP1):c.426+1G>T rs1563983184
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.779del (p.Gly260fs) rs1554679825
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr) rs948490589
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
NM_000512.5(GALNS):c.320-1G>T
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.422+1G>T
NM_000512.5(GALNS):c.422+2T>G
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.[1097T>C;451C>A]
NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530
NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.3(KCNJ11):c.154C>T (p.Gln52Ter) rs879253757
NM_000525.3(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.3(KCNJ11):c.365T>C (p.Leu122Pro) rs1591695840
NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696
NM_000525.3(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000525.3(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.3(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.3(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs) rs1554901829
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)
NM_000525.4(KCNJ11):c.79C>T rs752507753
NM_000528.4(MAN2B1):c.1026+2T>C rs369099686
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1109+1G>C
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110-1G>T rs1599352199
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter) rs1057516524
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1309+1G>T rs1057516745
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter) rs1555708126
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs) rs1057517316
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs) rs1599349822
NM_000528.4(MAN2B1):c.1527+1G>C rs1322313985
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992
NM_000528.4(MAN2B1):c.159+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591
NM_000528.4(MAN2B1):c.1645-2A>T rs891030696
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs) rs1057516459
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs) rs1057516289
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457
NM_000528.4(MAN2B1):c.1929-2A>G
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)
NM_000528.4(MAN2B1):c.2046+1G>A rs1555707087
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495
NM_000528.4(MAN2B1):c.2047-1G>A rs1057517166
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs) rs1555706774
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993
NM_000528.4(MAN2B1):c.2165+1del rs1555706752
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)
NM_000528.4(MAN2B1):c.2268-1G>C rs1555706596
NM_000528.4(MAN2B1):c.2268-2A>T
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter) rs1555710070
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.4(MAN2B1):c.2436+1G>A rs200036864
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457
NM_000528.4(MAN2B1):c.2437-300_2719del
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter) rs1291147781
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225
NM_000528.4(MAN2B1):c.2665-1G>C rs1555706185
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter) rs1057516325
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs) rs1555705992
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs) rs1057516897
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys)
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351
NM_000528.4(MAN2B1):c.446del (p.Glu149fs) rs1057516682
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.764-1G>C rs1555709533
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs) rs1057516972
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)
NM_000642.2(AGL):c.84delG (p.Tyr29Metfs) rs1553183148
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.1082+1G>C rs751112302
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter)
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter) rs1553185418
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) rs1057516741
NM_000642.3(AGL):c.1185+1G>A rs1057516948
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.121G>T (p.Gly41Ter) rs1553183178
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly) rs886039883
NM_000642.3(AGL):c.1284-2A>G
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1391dup (p.Asp465fs) rs786204616
NM_000642.3(AGL):c.1400del (p.Pro467fs) rs1057516913
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.140dup (p.Tyr47Ter) rs1057517347
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter)
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer) rs1553185883
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs) rs1057516570
NM_000642.3(AGL):c.1612-1G>A
NM_000642.3(AGL):c.1612-1G>C rs1327892944
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
NM_000642.3(AGL):c.1735+1G>T rs199922945
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter) rs1057516563
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter)
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.2001+2T>C rs1057516708
NM_000642.3(AGL):c.2011_2012del (p.Val671fs) rs1057516666
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs) rs1553186577
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs) rs1553186613
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2278del (p.Ser760fs) rs1057517136
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175
NM_000642.3(AGL):c.2309-1G>A rs786204481
NM_000642.3(AGL):c.2309-2A>G
NM_000642.3(AGL):c.2399dup (p.Asp801fs)
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2525del (p.Pro842fs) rs1057517425
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter)
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2682-2A>G rs1185321132
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter)
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs) rs1553188559
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-1G>C rs757967016
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2949+2T>A rs750492389
NM_000642.3(AGL):c.2949+2T>C rs750492389
NM_000642.3(AGL):c.2949+5G>A
NM_000642.3(AGL):c.2950-1G>A rs1057516793
NM_000642.3(AGL):c.2950-2A>C rs770438130
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3083+2T>C rs1057516952
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) rs1432024176
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys)
NM_000642.3(AGL):c.3363-1G>A rs1057516513
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter)
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter) rs1057517079
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter)
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3538del (p.Ser1180fs) rs1553190316
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570
NM_000642.3(AGL):c.3589-1G>A rs1289339080
NM_000642.3(AGL):c.3589-3C>G
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs) rs1553190751
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter)
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter)
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter)
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter)
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3941_3949+12del rs1553192718
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.3G>C (p.Met1Ile) rs1553181400
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs) rs1057517405
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter)
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_000642.3(AGL):c.437del (p.Arg146fs) rs1057517344
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
NM_000642.3(AGL):c.442del (p.Arg148fs) rs1057516397
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.3(AGL):c.4481+1G>C rs1553193529
NM_000642.3(AGL):c.4481+2T>G rs1553193530
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
NM_000642.3(AGL):c.458C>A (p.Ser153Ter)
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr)
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.516C>A (p.Cys172Ter)
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.567dup (p.Arg190Ter)
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.664+1G>C
NM_000642.3(AGL):c.664+2T>C
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.680G>A (p.Trp227Ter)
NM_000642.3(AGL):c.681G>A (p.Trp227Ter)
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000642.3(AGL):c.82+1G>A rs1354714214
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.867G>A (p.Trp289Ter)
NM_000642.3(AGL):c.921del (p.Asn307fs) rs1571243862
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489
NM_000642.3(AGL):c.991C>T (p.Gln331Ter)
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358
NM_001008216.2(GALE):c.351+1G>T
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860
NM_001040716.2(PC):c.1022+1G>A rs1555025823
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.1369-1G>C
NM_001040716.2(PC):c.1514-2A>G
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) rs1555014332
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.633+2T>C rs763433647
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383
NM_001040716.2(PC):c.903+2T>A
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.4(SI):c.2159+2T>G rs1553775177
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)
NM_001164277.1(SLC37A4):c.1124-1G>A rs782202675
NM_001164277.1(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.1(SLC37A4):c.1A>G (p.Met1Val) rs786204740
NM_001164277.1(SLC37A4):c.234G>A (p.Trp78Ter)
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.381+1G>A rs786204637
NM_001164277.1(SLC37A4):c.381+2T>G rs782645078
NM_001164277.1(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883
NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.1(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881
NM_001164277.1(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289
NM_001164277.1(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543
NM_001164277.1(SLC37A4):c.784+2T>G rs1592111559
NM_001164277.1(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900
NM_001164277.1(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
NM_001164277.1(SLC37A4):c.871-2A>C rs920196110
NM_001164277.1(SLC37A4):c.912_913insGC (p.Leu305fs) rs1555190745
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs) rs781869215
NM_001164277.2(SLC37A4):c.786-2A>G
NM_001164277.2(SLC37A4):c.898C>T rs193302880
NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) rs121908979
NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001164278.2(SLC37A4):c.92_94del (p.Phe31del)
NM_001164279.2(SLC37A4):c.-172+96_-172+99del rs1447366650
NM_001166158.1(PDHX):c.-197del rs1158194122
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) rs1556405057
NM_001287174.2(ABCC8):c.2222+1G>T rs1554923999
NM_001287174.2(ABCC8):c.291-2A>G rs786204695
NM_001287174.2(ABCC8):c.3403-1G>A rs576684889
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1620+1G>A rs1555951858
NM_001352514.2(HLCS):c.1621-2A>G rs750728042
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
NM_001352514.2(HLCS):c.2237-56_2255del
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs) rs1555882068
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) rs1284747916
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) rs144572349
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001370658.1(BTD):c.-17+1G>C rs1057516440
NM_001370658.1(BTD):c.-17+1G>T rs1057516440
NM_001370658.1(BTD):c.-17+1del rs1057517114
NM_001370658.1(BTD):c.-17+2T>C
NM_001370658.1(BTD):c.-17_-17+3del rs1050514843
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) rs1057516252
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs) rs1057517256
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser) rs1559600573
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter) rs1553654145
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs) rs1553654178
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter) rs1277029090
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter) rs1553654186
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.249+1G>T rs373249212
NM_001370658.1(BTD):c.250-15del rs587783008
NM_001370658.1(BTD):c.250-1G>T rs1553653053
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) rs1057516223
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) rs1306944669
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.368G>T (p.Cys123Phe) rs1336386457
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) rs745343884
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) rs1057516812
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del) rs1575029290
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) rs1553653732
NM_001370658.1(BTD):c.58_59del (p.Leu20fs) rs1553652080
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799
NM_001467.6(SLC37A4):c.1019_1038del (p.Phe340fs)
NM_001467.6(SLC37A4):c.1124+2dup rs1459811938
NM_001467.6(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs) rs1555191580
NM_001467.6(SLC37A4):c.276dup (p.Phe93fs) rs1555191573
NM_001467.6(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001467.6(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001467.6(SLC37A4):c.370del (p.Val124fs) rs1555191512
NM_001467.6(SLC37A4):c.382-1del rs1555191406
NM_001467.6(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001467.6(SLC37A4):c.676del (p.Leu226fs) rs1555191105
NM_001467.6(SLC37A4):c.786-1G>A
NM_001467.6(SLC37A4):c.805del (p.Leu269fs) rs1555190992
NM_001467.6(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001467.6(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001467.6(SLC37A4):c.963_964del (p.Val322fs) rs1592109970
NM_001467.6(SLC37A4):c.986-3_989del rs1555190559
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter)
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_002076.4(GNS):c.1308+2T>C
NM_002076.4(GNS):c.625-2A>G
NM_002103.5(GYS1):c.1170-2A>G
NM_002103.5(GYS1):c.119-2_120del rs1422043936
NM_002103.5(GYS1):c.1229+1G>A
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375
NM_002103.5(GYS1):c.678+1G>A
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.3(LAMP2):c.864G>A (p.Val288=)
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.929-1G>A rs727504262
NM_002299.4(LCT):c.1692_1696del (p.Val565fs) rs386833832
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) rs386833833
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter) rs386833834
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter) rs386833835
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) rs386833836
NM_002299.4(LCT):c.5387del (p.Asp1796fs) rs386833837
NM_002299.4(LCT):c.653_654del (p.Ser218fs) rs386833838
NM_002299.4(LCT):c.[4363C>T;4950C>A]
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) rs373906233
NM_002591.4(PCK1):c.961+1G>A
NM_002637.4(PHKA1):c.2527-1G>T rs1556257317
NM_002637.4(PHKA1):c.678_684del (p.Val227fs)
NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)
NM_002863.5(PYGL):c.1620+1G>A rs113993981
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902
NM_002863.5(PYGL):c.2177+2T>C
NM_002863.5(PYGL):c.772+1G>A rs776545903
NM_002863.5(PYGL):c.772+2_772+3del rs765425704
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) rs773289713
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) rs1309307492
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) rs770214617
NM_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter) rs1570623881
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_004130.4(GYG1):c.7+1G>A rs949456055
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr) rs797045597
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_005609.4(PYGM):c.1092+1G>A rs749560316
NM_005609.4(PYGM):c.1092+1G>C
NM_005609.4(PYGM):c.1093-1G>T rs1163710370
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) rs1057516612
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252
NM_005609.4(PYGM):c.1680del (p.Asn561fs) rs1057516259
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.1742del (p.Cys581fs) rs1592409631
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
NM_005609.4(PYGM):c.1768+2T>G rs747513238
NM_005609.4(PYGM):c.1769-1G>A
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259
NM_005609.4(PYGM):c.1969+1G>T rs753181427
NM_005609.4(PYGM):c.1970-1G>A rs1057516598
NM_005609.4(PYGM):c.198del (p.Arg67fs) rs750857876
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu)
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2136dup (p.Gly713fs) rs1057517067
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) rs1057517361
NM_005609.4(PYGM):c.219_220del (p.His74fs) rs1555136752
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs) rs1057517058
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2319del (p.Val774fs) rs1462767117
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001
NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs)
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.244-1G>A
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu) rs1057516529
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145
NM_005609.4(PYGM):c.253del (p.Tyr85fs) rs1057516629
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.262_263del (p.Leu88fs) rs1555136540
NM_005609.4(PYGM):c.2T>C (p.Met1Thr)
NM_005609.4(PYGM):c.345+2T>A
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) rs1555136459
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.445_448del (p.Ala149fs) rs1057517400
NM_005609.4(PYGM):c.528+1G>A
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.773-1G>C
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769
NM_005609.4(PYGM):c.855+1G>A
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) rs1553945794
NM_005908.4(MANBA):c.1318-1G>T rs374545788
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668
NM_005908.4(MANBA):c.177+2T>C
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
NM_006218.4(PIK3CA):c.2075del (p.Cys692fs)
NM_006516.3(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.3(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006516.3(SLC2A1):c.1199_1200insGAG (p.Pro401_Ala402insSer) rs1570590905
NM_006516.3(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.3(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.3(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006516.3(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.3(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.3(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro)
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro)
NM_006859.4(LIAS):c.587C>A (p.Thr196Asn)
NM_006859.4(LIAS):c.643del (p.Asp215fs)
NM_006859.4(LIAS):c.737+1G>A rs546751789
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter)
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.188_189del (p.Val63fs) rs1554746565
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) rs1554746094
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu) rs1554746094
NM_012203.2(GRHPR):c.214+1G>C rs1244822375
NM_012203.2(GRHPR):c.214+1G>T rs1244822375
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.215-2_215-1del rs1554746793
NM_012203.2(GRHPR):c.228dup (p.Val77fs) rs1057517238
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) rs1554746097
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter)
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.404del (p.Asn135fs) rs1057516299
NM_012203.2(GRHPR):c.405-1G>A rs779208888
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs) rs1057517333
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs) rs1057517026
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter)
NM_012203.2(GRHPR):c.493+2T>A rs180177313
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314
NM_012203.2(GRHPR):c.496del (p.Gln166fs) rs1554747871
NM_012203.2(GRHPR):c.515del (p.Leu172fs) rs1057516990
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012203.2(GRHPR):c.598+1G>T rs111256477
NM_012203.2(GRHPR):c.598+1del rs1554747933
NM_012203.2(GRHPR):c.599-1G>C rs1422977131
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) rs1564300888
NM_012203.2(GRHPR):c.735-1G>A rs180177317
NM_012203.2(GRHPR):c.735-2del rs1257080057
NM_012203.2(GRHPR):c.755dup (p.Asp252fs) rs1057516823
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs) rs1554748528
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) rs1554748534
NM_012203.2(GRHPR):c.849dup (p.Thr284fs) rs1554748574
NM_012203.2(GRHPR):c.863del (p.Cys288fs) rs1554748598
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322
NM_012203.2(GRHPR):c.954del (p.Glu320fs) rs1057516831
NM_013995.2(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_013995.2(LAMP2):c.190_191del (p.Val64fs) rs1569371330
NM_013995.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_013995.2(LAMP2):c.65-1G>C rs730880496
NM_013995.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371
NM_018297.4(NGLY1):c.1150-1G>C rs532007026
NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln) rs1135401728
NM_018297.4(NGLY1):c.1294G>T (p.Glu432Ter) rs992161646
NM_018297.4(NGLY1):c.1426-1G>A
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) rs1575612023
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.247-1G>A rs1575650389
NM_018297.4(NGLY1):c.658+1G>A
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209
NM_021957.4(GYS2):c.1062+1G>T rs781511110
NM_021957.4(GYS2):c.1081del (p.Thr361fs) rs771205749
NM_021957.4(GYS2):c.1229+1G>A rs764539267
NM_021957.4(GYS2):c.1230-1G>A rs766733439
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_022172.2(PC):c.[2095G>A];[2095G>T]
NM_031229.4(RBCK1):c.461-2A>G
NM_031229.4(RBCK1):c.582+1G>A
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.122dup (p.Val42fs) rs1425736036
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg) rs200529020
NM_138413.4(HOGA1):c.341-1G>A rs1554874130
NM_138413.4(HOGA1):c.404del (p.Val135fs) rs1554874148
NM_138413.4(HOGA1):c.413del (p.Pro138fs) rs777683624
NM_138413.4(HOGA1):c.448del (p.Leu150fs) rs746776892
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589
NM_138413.4(HOGA1):c.700+2T>G rs990830655
NM_138413.4(HOGA1):c.701-2A>G rs776817346
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter) rs752277936
NM_138413.4(HOGA1):c.834+1G>A rs749315029
NM_138413.4(HOGA1):c.834+1G>T rs749315029
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_152419.3(HGSNAT):c.1013-1G>C
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter)
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) rs1057518644
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter)
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545
NM_152419.3(HGSNAT):c.1542+1G>A rs1554537612
NM_152419.3(HGSNAT):c.1542+1G>C rs1554537612
NM_152419.3(HGSNAT):c.1542+2T>G rs1554537613
NM_152419.3(HGSNAT):c.1567A>T (p.Lys523Ter)
NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter)
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter)
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)
NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter)
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)
NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter)
NM_152419.3(HGSNAT):c.469G>T (p.Glu157Ter)
NM_152419.3(HGSNAT):c.563+2T>A
NM_152419.3(HGSNAT):c.743+1del rs1554531744
NM_152419.3(HGSNAT):c.744-2A>G rs762402992
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter)
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala) rs1085307112
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152419.3(HGSNAT):c.851+1G>A rs1554532283
NM_152419.3(HGSNAT):c.851+1G>T rs1554532283
NM_152419.3(HGSNAT):c.852-2A>C rs755710040
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs) rs1554526454

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