ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Counsyl

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2079
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HGVS dbSNP
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
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.308_310del (p.Gly103del) rs1553994762
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
NM_000027.4(AGA):c.394+19_394+20del rs575232762
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989
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>T rs1057517175
NM_000027.4(AGA):c.70del (p.Ser24fs) rs1057517239
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.*39G>A rs369979466
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.1072-91G>A rs180177159
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
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.145A>C (p.Met49Leu) rs74205173
NM_000030.3(AGXT):c.165+40A>C rs57017537
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.260_271del (p.Glu87_Leu90del) rs1553648333
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.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) rs1553648488
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) rs121908530
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.524+2T>A rs1553648568
NM_000030.3(AGXT):c.525-1G>A rs180177234
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
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.596-2A>G rs180177245
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[3] (p.Lys229dup) 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.777-17C>A rs112319664
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.847-3C>G rs180177286
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
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.942+14T>G rs886055843
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.-11+1G>C rs181639417
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.1063C>T (p.Gln355Ter) rs1554702065
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+1del rs1057516534
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.287del (p.Asn96fs) rs1554702890
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.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.379+1G>A rs138121153
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.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.546del (p.Leu183fs) rs1057517091
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys) rs777324536
NM_000035.4(ALDOB):c.712dup (p.His238fs) rs1554702425
NM_000035.4(ALDOB):c.799+11C>T rs182245025
NM_000035.4(ALDOB):c.800-2A>C rs199965465
NM_000035.4(ALDOB):c.806_808del (p.Cys269del) rs1159180033
NM_000035.4(ALDOB):c.812del (p.Leu271fs) rs1554702353
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) rs1554702325
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
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.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
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.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.439-6G>C rs369208046
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
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_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) rs1555560217
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.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.340+20C>T rs183285298
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC1):c.447-1G>A rs1411037881
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085
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.606T>C (p.Tyr202=) rs1555560103
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
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.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609
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.1099T>C (p.Trp367Arg) rs1555600061
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>A (p.Gly377Ser) rs752002666
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.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.1195-1G>A rs1555600166
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) rs1555600194
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) rs1555600212
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.1324G>A (p.Val442Met) rs377559348
NM_000152.5(GAA):c.1326+2T>C rs1434761678
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) rs1555600488
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1438-1G>C 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.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.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1551+1G>C rs770780848
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.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.1567del (p.Ser523fs) rs1057517267
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
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.172C>T (p.Gln58Ter) rs201185475
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382
NM_000152.5(GAA):c.1754+21C>T rs373387713
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
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.1819_1836dup (p.Gly607_His612dup) rs1555601409
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.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
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+21G>A rs2304837
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909
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>G (p.Cys647Trp) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
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.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+16C>T rs573522544
NM_000152.5(GAA):c.2040+1G>T rs1057516928
NM_000152.5(GAA):c.2040+1del rs1555601662
NM_000152.5(GAA):c.2040+69A>G rs2304834
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) rs1555601721
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.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2161dup (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938
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.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.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.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) 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.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382
NM_000152.5(GAA):c.2331+2T>A rs1057517148
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
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.2482-5T>C rs1290870969
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.2584G>A (p.Gly862Arg) rs1555603113
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.2646+2T>A rs786204561
NM_000152.5(GAA):c.2647-1_2648del rs1555603216
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000152.5(GAA):c.2647-23del rs749000061
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.2744A>C (p.Gln915Pro) rs1555603272
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) rs1221948995
NM_000152.5(GAA):c.2757del (p.Asn919fs) rs1555603283
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.2799+4A>G rs778032599
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) rs1555603411
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter) rs1555603436
NM_000152.5(GAA):c.2853del (p.Trp951fs) rs1555603434
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) rs958648168
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) rs1334316018
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.379_380del (p.Cys127fs) rs1207988953
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3]) rs1555598846
NM_000152.5(GAA):c.393del (p.Ser132fs) rs1057517381
NM_000152.5(GAA):c.421C>A (p.Leu141Met) rs1379595858
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.448dup (p.Ala150fs) rs1555598880
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535
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>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.632_643del (p.Val211_Ser214del) rs1555599099
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
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.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC rs3071247
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000152.5(GAA):c.953T>A (p.Met318Lys) 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.-33_-20dup rs1555748974
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
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.1045G>A (p.Gly349Ser) rs754967473
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) rs111033608
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser) rs536209426
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) rs1311294794
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) rs1365349586
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg) rs1555748630
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu) rs575077063
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del) rs1555748595
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.612-1G>A rs1555748556
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) rs1555748534
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln) rs575139300
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) rs1555748940
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp) rs959842362
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln) rs370029131
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180
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.919_921del (p.Met307del) rs1247635972
NM_000154.2(GALK1):c.944+1G>T rs113464656
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000155.3(GALT):c.-130_-129insCAGT rs111033640
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
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.1059+24G>A rs111033840
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
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.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.157T>C (p.Trp53Arg) rs1131691837
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.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398
NM_000155.4(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000155.4(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.4(GALT):c.247G>A (p.Gly83Arg) rs111033660
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.27G>C (p.Gln9His) rs111033637
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.307C>T (p.Gln103Ter) rs1225091358
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.336T>G (p.Ser112Arg) rs367543254
NM_000155.4(GALT):c.346C>A (p.Leu116Ile) rs1554709252
NM_000155.4(GALT):c.378-2A>T rs1554709280
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
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.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) rs367543257
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.507+10G>A rs753052473
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.513dup (p.Glu172Ter) rs886044409
NM_000155.4(GALT):c.527C>T (p.Ala176Val) rs1554709329
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
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>A (p.Ala191Asp) rs794727838
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359
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.616C>T (p.Gln206Ter) rs1554709366
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
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.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.670del (p.Gln224fs) rs1057516883
NM_000155.4(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.4(GALT):c.687G>A (p.Lys229=) rs111033753
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
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.788G>A (p.Arg263Gln) rs777023967
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.821-46G>T rs111033776
NM_000155.4(GALT):c.83-2A>G rs1057517415
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783
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.948G>A (p.Trp316Ter) rs111033791
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.957C>T (p.His319=) rs111033792
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) rs111033798
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.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000199.5(SGSH):c.-12_-10GCC[5] (p.Met1_Ser2insAla) rs1555624208
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del) rs1555620306
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg) rs1428699412
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.1139A>G (p.Gln380Arg) rs144143780
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
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.119A>C (p.Tyr40Ser) rs1555623007
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
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.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del) rs1252944094
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter) rs1232231848
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe) rs1555622928
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006
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.367AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.376dup (p.Val126fs) rs1555621971
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup) rs1555624091
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.582T>A (p.Cys194Ter) rs1555621659
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.664-36T>C rs35087113
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
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.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000199.5(SGSH):c.937_939dup (p.Val313dup) rs1555620723
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1083G>A (p.Ala361=) rs1553917295
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg) rs1553917309
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro) rs1553917310
NM_000203.5(IDUA):c.1161C>T (p.Leu387=) rs1553917312
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.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1189+5G>A rs1553917318
NM_000203.5(IDUA):c.1190-2A>T rs994902207
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu) rs1465083754
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del) rs1450080299
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del) rs1553917418
NM_000203.5(IDUA):c.1402+1G>A rs398123254
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del) rs1553917455
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>T rs1553917483
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.1591del (p.Arg531fs) rs1553917558
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967
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.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1727+4C>T rs1202966289
NM_000203.5(IDUA):c.1728-1G>C rs1249951282
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1728-9C>T rs374775605
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370
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.1854C>A (p.Tyr618Ter) rs746936485
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1867del (p.Leu623fs) rs1553917747
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) rs1553917746
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter) rs1553917764
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.299+1078del rs1553915149
NM_000203.5(IDUA):c.299+1087G>A rs1162410484
NM_000203.5(IDUA):c.299+1089del rs1553915155
NM_000203.5(IDUA):c.299+1104G>A rs387907484
NM_000203.5(IDUA):c.299+1127del rs1553915173
NM_000203.5(IDUA):c.299+1212del rs1553915188
NM_000203.5(IDUA):c.299+1225G>A rs200798328
NM_000203.5(IDUA):c.299+1235_299+1261del rs1553915189
NM_000203.5(IDUA):c.299+1238del rs1553915192
NM_000203.5(IDUA):c.299+1255del rs1372086275
NM_000203.5(IDUA):c.299+1279C>T rs387907481
NM_000203.5(IDUA):c.299+1313del rs778770773
NM_000203.5(IDUA):c.299+1362_299+1363del rs1265696919
NM_000203.5(IDUA):c.299+1363dup rs1265696919
NM_000203.5(IDUA):c.299+1414_299+1415del rs1553915228
NM_000203.5(IDUA):c.299+1506del rs1553915253
NM_000203.5(IDUA):c.299+1542A>T rs387907487
NM_000203.5(IDUA):c.299+1627G>A rs387907483
NM_000203.5(IDUA):c.299+1638del rs768949918
NM_000203.5(IDUA):c.299+1G>T rs398123259
NM_000203.5(IDUA):c.299+3322C>T rs387907486
NM_000203.5(IDUA):c.299+3360A>G rs760075470
NM_000203.5(IDUA):c.299+3399C>T rs368990025
NM_000203.5(IDUA):c.299+3410_299+3424dup rs778682733
NM_000203.5(IDUA):c.299+3410del rs756881822
NM_000203.5(IDUA):c.299+3420del rs1553915711
NM_000203.5(IDUA):c.299+3444_299+3445del rs758100654
NM_000203.5(IDUA):c.299+3446A>T rs1553915726
NM_000203.5(IDUA):c.299+3455G>T rs752252231
NM_000203.5(IDUA):c.299+3566G>T rs941971930
NM_000203.5(IDUA):c.299+3602del rs1553915784
NM_000203.5(IDUA):c.299+3617del rs1553915793
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606
NM_000203.5(IDUA):c.300-1G>A rs1553916890
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.34_45dup (p.Ala12_Ala15dup) rs1553914754
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.386-2A>G rs777295041
NM_000203.5(IDUA):c.399G>C (p.Met133Ile) rs558683362
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys) rs1553916949
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) rs1553916950
NM_000203.5(IDUA):c.493+1G>A rs1553916957
NM_000203.5(IDUA):c.494-1G>A rs794727701
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.589+1G>A rs1293215555
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp) rs770087890
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup) rs1553917091
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) rs760582777
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup) rs764105238
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser) rs1001972534
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del) rs1553914780
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del) rs764800004
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637
NM_000203.5(IDUA):c.793-1G>A rs762779421
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) rs1553917192
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup) rs1553917216
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969
NM_000203.5(IDUA):c.946G>A (p.Val316Met) rs755445369
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_000203.5(IDUA):c.973-4G>A rs745832717
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del) rs1553917253
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer) rs759412123
NM_000213.5(ITGB4):c.5218+2T>C rs780675808
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs) rs1555746537
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter) rs1443010160
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) 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.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1112del (p.Gly371fs) rs1555622250
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) rs1555622266
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) rs1485628563
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn) rs1555622346
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.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) rs104894599
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) rs1396150639
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) 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.1772T>C (p.Leu591Pro) rs1215582852
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) rs1555622482
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
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.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) rs1555622533
NM_000263.4(NAGLU):c.193del (p.Tyr65fs) rs1555621432
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.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) rs1186888836
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.208G>C (p.Gly70Arg) rs1329159364
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) rs1555621404
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) rs1555622589
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs) rs1555621442
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) rs749371796
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup) rs1555621450
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del) rs1555621405
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.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del) rs1555621469
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.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) rs1555621579
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu) rs1238423614
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) rs1555621397
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del) rs1555621605
NM_000263.4(NAGLU):c.531+46_531+75del rs1555621618
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup) rs1555621396
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
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.845C>T (p.Ala282Val) rs144771528
NM_000263.4(NAGLU):c.867del (p.Ile290fs) rs1555622019
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.237+1G>A rs202143236
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.1672-20A>G rs931436550
NM_000352.5(ABCC8):c.1817+1G>T rs1554926476
NM_000352.5(ABCC8):c.1817+2_1817+6del rs1554926465
NM_000352.5(ABCC8):c.2041-12C>A rs201419039
NM_000352.5(ABCC8):c.2041-1G>A rs1554924630
NM_000352.5(ABCC8):c.2041-21G>A rs746714109
NM_000352.5(ABCC8):c.2041-25G>A rs1554924660
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+15C>A rs377174421
NM_000352.5(ABCC8):c.2222+1G>A rs1554923999
NM_000352.5(ABCC8):c.2255+2T>C rs1057516589
NM_000352.5(ABCC8):c.2256-16del rs774508952
NM_000352.5(ABCC8):c.2475+19G>A rs373894772
NM_000352.5(ABCC8):c.2556+1G>A rs749271190
NM_000352.5(ABCC8):c.2694+1G>C rs774574576
NM_000352.5(ABCC8):c.2694+3G>A rs1554914779
NM_000352.5(ABCC8):c.2694+4A>T rs1554914771
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+13G>A rs182340196
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.3867+7G>A rs372198547
NM_000352.5(ABCC8):c.3868-1G>A rs766431403
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_000352.5(ABCC8):c.823-7T>A rs1554942148
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.126_146dup (p.Thr43_Ile49dup) rs1554949190
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296
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.1536C>G (p.Tyr512Ter) rs765090096
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
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.2180T>G (p.Leu727Arg) rs1554924079
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.2454_2456del (p.Asp818_Gln819delinsGlu) rs1554916621
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121
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.2992C>T (p.Arg998Ter) rs769518471
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr) rs751209734
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
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.3243_3251del (p.Ser1082_Thr1084del) rs1271445653
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.3470_3472del (p.Ser1157del) rs1554910736
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
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.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup) rs1554906427
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val) rs1340859533
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432
NM_000352.6(ABCC8):c.3989-3C>G rs1324242791
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg) rs1554905805
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.403C>G (p.Leu135Val) rs368450282
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs) rs1057516890
NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr) rs1554905695
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp) rs746811190
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del) rs1554905655
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052
NM_000352.6(ABCC8):c.415del (p.Leu139fs) rs1057516591
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
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.4253G>T (p.Arg1418Leu) 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.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
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.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del) rs1554904088
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.4563G>C (p.Lys1521Asn) rs142272833
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs) rs1554903370
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del) rs772409200
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.686C>T (p.Thr229Ile) rs768017509
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter) rs1057517139
NM_000352.6(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020
NM_000352.6(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly) rs149347593
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu) rs768372267
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.1051C>T (p.Arg351Ter) rs72555372
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
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.1369C>T (p.Arg457Ter) rs72555359
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400
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.146G>A (p.Arg49His) rs780523881
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995
NM_000404.4(GLB1):c.1479+1G>A rs1022476871
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val) rs202007119
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.152T>A (p.Ile51Asn) rs72555390
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) rs72555390
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.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.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr) rs1228819238
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter) rs1553604682
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs) rs1553604656
NM_000404.4(GLB1):c.2011del (p.Asp671fs) rs1553604655
NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg) rs1553604645
NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys) rs1553604644
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881
NM_000404.4(GLB1):c.245+1G>A rs778423653
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.397-1G>A rs398123353
NM_000404.4(GLB1):c.401G>T (p.Gly134Val) rs773562141
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.446C>T (p.Ser149Phe) rs778700089
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.501C>T (p.Pro167=) rs1553611799
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366
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.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.734-8A>G rs398123357
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser) rs1214295886
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880
NM_000404.4(GLB1):c.93G>A (p.Met31Ile) rs1553612598
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000525.3(KCNJ11):c.-135_-134insCT rs1554901983
NM_000525.3(KCNJ11):c.-54C>T rs1016780684
NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530
NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678
NM_000525.3(KCNJ11):c.1040G>A (p.Arg347His) rs771797701
NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.3(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160
NM_000525.3(KCNJ11):c.1094G>A (p.Arg365His) rs750689750
NM_000525.3(KCNJ11):c.1112G>A (p.Arg371His) rs1233061680
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.3(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.3(KCNJ11):c.264G>T (p.Met88Ile) rs1554901866
NM_000525.3(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.3(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851
NM_000525.3(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531
NM_000525.3(KCNJ11):c.407G>A (p.Arg136His) rs1479483693
NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.3(KCNJ11):c.527G>A (p.Arg176His) rs1266231295
NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696
NM_000525.3(KCNJ11):c.575G>A (p.Arg192His) rs750778014
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
NM_000525.3(KCNJ11):c.617G>T (p.Arg206Leu) rs1554901747
NM_000525.3(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.3(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.3(KCNJ11):c.797C>T (p.Pro266Leu) rs1554901679
NM_000525.3(KCNJ11):c.80G>A (p.Arg27His) rs774714794
NM_000525.3(KCNJ11):c.841_843del (p.Leu281del) rs1554901658
NM_000525.3(KCNJ11):c.853G>A (p.Val285Ile) rs149667199
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576
NM_000525.3(KCNJ11):c.970G>A (p.Gly324Arg) rs1193170151
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs) rs1554901829
NM_000525.4(KCNJ11):c.463G>A rs587783668
NM_000525.4(KCNJ11):c.79C>T rs752507753
NM_000528.4(MAN2B1):c.-19A>G rs886054234
NM_000528.4(MAN2B1):c.1026+2T>C rs369099686
NM_000528.4(MAN2B1):c.1109+41C>A rs200862799
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
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.1308_1309+2del rs1555708282
NM_000528.4(MAN2B1):c.1309+1G>T rs1057516745
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter) rs1555708126
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs) rs1057517316
NM_000528.4(MAN2B1):c.1527+1G>C rs1322313985
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
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.1645-2A>T rs891030696
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs) rs1057516459
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs) rs1057516289
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del) rs779241409
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs) rs1290585382
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.2114del (p.Pro705fs) rs1555706774
NM_000528.4(MAN2B1):c.2165+1del rs1555706752
NM_000528.4(MAN2B1):c.2166-10_2166-2del rs1555706734
NM_000528.4(MAN2B1):c.2268-1G>C rs1555706596
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter) rs1555710070
NM_000528.4(MAN2B1):c.2355+33C>T rs374660827
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
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.2484_2485insAAGCCA (p.Leu829_Met830insLysPro) rs1555706406
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225
NM_000528.4(MAN2B1):c.2665-1G>C rs1555706185
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter) rs1057516325
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His) rs750173812
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs) rs1555705992
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs) rs1057516897
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys) rs1555710357
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
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.475G>A (p.Asp159Asn) rs864621976
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001
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.784_786del (p.Asn262del) rs1555709511
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs) rs1057516972
NM_000642.2(AGL):c.84delG (p.Tyr29Metfs) rs1553183148
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
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.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.1266_1268del (p.Lys422_His423delinsAsn) rs1553185488
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.140dup (p.Tyr47Ter) rs1057517347
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer) rs1553185883
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs) rs1057516570
NM_000642.3(AGL):c.1612-1G>C rs1327892944
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del) rs1361477641
NM_000642.3(AGL):c.1735+1G>T rs199922945
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter) rs1057516563
NM_000642.3(AGL):c.1877A>G (p.His626Arg) rs1553186368
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr) rs1553186370
NM_000642.3(AGL):c.1913ATG[3] (p.Asp639dup) rs1553186447
NM_000642.3(AGL):c.2001+2T>C rs1057516708
NM_000642.3(AGL):c.2011_2012del (p.Val671fs) rs1057516666
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs) rs1553186577
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.219AGA[1] (p.Glu74del) rs1553183207
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.2318AAG[1] (p.Glu774del) rs766308910
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.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2681+1G>A rs201201443
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2682-2A>G rs1185321132
NM_000642.3(AGL):c.2717_2721del (p.Gln906fs) rs1553187957
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243
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+2dup rs1553188589
NM_000642.3(AGL):c.2950-1G>A rs1057516793
NM_000642.3(AGL):c.2950-2A>C rs770438130
NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del) rs1553188647
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3083+2T>C rs1057516952
NM_000642.3(AGL):c.3083+5_3083+6del rs781189361
NM_000642.3(AGL):c.3191_3193dup (p.Asp1065_Val1066insVal) rs1553188824
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.3259+3A>T rs748859491
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256
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.3363-1G>A rs1057516513
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter) rs1057517079
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter) rs776977863
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.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs) rs1553190751
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3836+1_3836+2dup rs1553192407
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.4189G>A (p.Ala1397Thr) rs375755924
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del) rs1300198233
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4260-12A>G rs369973784
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.437del (p.Arg146fs) rs1057517344
NM_000642.3(AGL):c.442del (p.Arg148fs) rs1057516397
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del) rs1553193523
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.460+1G>A rs930434905
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.82+1547T>C rs1553181605
NM_000642.3(AGL):c.82+1G>A rs1354714214
NM_000642.3(AGL):c.83-17_83-16del rs751326594
NM_000642.3(AGL):c.83-19del rs1553183146
NM_000642.3(AGL):c.83-24del rs1553183144
NM_000642.3(AGL):c.83-29G>T rs767476472
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489
NM_000642.3(AGL):c.958+1G>A rs1553184657
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047
NM_001040716.2(PC):c.1-35661G>T rs1555040359
NM_001040716.2(PC):c.1022+1G>A rs1555025823
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.1225_1227del (p.Asn409del) rs1555023879
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup) rs1555015012
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del) rs1555014903
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.2974_2976del (p.Lys992del) rs751225998
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) rs1555014332
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del) rs1555014068
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.633+2T>C rs763433647
NM_001040716.2(PC):c.633+38_633+58del rs1213292231
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_001164277.1(SLC37A4):c.*11G>A rs978301169
NM_001164277.1(SLC37A4):c.*12G>A rs1221264103
NM_001164277.1(SLC37A4):c.*1A>G rs782422570
NM_001164277.1(SLC37A4):c.*5A>G rs373050741
NM_001164277.1(SLC37A4):c.*5A>T rs373050741
NM_001164277.1(SLC37A4):c.*7T>G rs369243698
NM_001164277.1(SLC37A4):c.-10C>G rs782655025
NM_001164277.1(SLC37A4):c.-13G>T rs1555191914
NM_001164277.1(SLC37A4):c.-15C>T rs1210959942
NM_001164277.1(SLC37A4):c.-16C>A rs1555191915
NM_001164277.1(SLC37A4):c.-16C>G rs1555191915
NM_001164277.1(SLC37A4):c.-2C>T rs1318999121
NM_001164277.1(SLC37A4):c.-498G>T rs1555192177
NM_001164277.1(SLC37A4):c.-499C>T rs1236559416
NM_001164277.1(SLC37A4):c.-504G>A rs1045560610
NM_001164277.1(SLC37A4):c.-504G>C rs1045560610
NM_001164277.1(SLC37A4):c.-506A>G rs1555192180
NM_001164277.1(SLC37A4):c.-522G>A rs1375919926
NM_001164277.1(SLC37A4):c.-527C>T rs1290401578
NM_001164277.1(SLC37A4):c.-528C>T rs1555192184
NM_001164277.1(SLC37A4):c.-530G>A rs1417861590
NM_001164277.1(SLC37A4):c.-535G>A rs138523194
NM_001164277.1(SLC37A4):c.-535G>C rs138523194
NM_001164277.1(SLC37A4):c.1008T>C (p.Ala336=) rs782726848
NM_001164277.1(SLC37A4):c.1018T>G (p.Phe340Val) rs1474838395
NM_001164277.1(SLC37A4):c.1023C>T (p.Ser341=) rs1555190535
NM_001164277.1(SLC37A4):c.1028A>G (p.Tyr343Cys) rs1555190525
NM_001164277.1(SLC37A4):c.1032C>G (p.Gly344=) rs1555190521
NM_001164277.1(SLC37A4):c.1038T>G (p.Ile346Met) rs1555190517
NM_001164277.1(SLC37A4):c.1039G>A (p.Ala347Thr) rs1555190513
NM_001164277.1(SLC37A4):c.103A>G (p.Met35Val) rs782533083
NM_001164277.1(SLC37A4):c.1042C>T (p.Leu348=) rs1555190509
NM_001164277.1(SLC37A4):c.1043T>C (p.Leu348Pro) rs1210588522
NM_001164277.1(SLC37A4):c.1055T>C (p.Ile352Thr) rs1342845276
NM_001164277.1(SLC37A4):c.1057G>T (p.Ala353Ser) rs1555190504
NM_001164277.1(SLC37A4):c.1068T>C (p.Ser356=) rs946752823
NM_001164277.1(SLC37A4):c.1071C>T (p.Ala357=) rs1555190486
NM_001164277.1(SLC37A4):c.1076C>T (p.Pro359Leu) rs1555190480
NM_001164277.1(SLC37A4):c.1077C>G (p.Pro359=) rs1555190477
NM_001164277.1(SLC37A4):c.1079A>G (p.Asn360Ser) rs782182577
NM_001164277.1(SLC37A4):c.108A>C (p.Pro36=) rs1555191843
NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492
NM_001164277.1(SLC37A4):c.1101C>T (p.Ala367=) rs1555190455
NM_001164277.1(SLC37A4):c.1115T>C (p.Met372Thr) rs1555190443
NM_001164277.1(SLC37A4):c.1123+18G>C rs1555190434
NM_001164277.1(SLC37A4):c.1123+25T>C rs782603352
NM_001164277.1(SLC37A4):c.1123+26C>T rs782811246
NM_001164277.1(SLC37A4):c.1123+34C>T rs1555190425
NM_001164277.1(SLC37A4):c.1123+36C>A rs547915912
NM_001164277.1(SLC37A4):c.1123+36C>G rs547915912
NM_001164277.1(SLC37A4):c.1123+38C>G rs1184172656
NM_001164277.1(SLC37A4):c.1123+38C>T rs1184172656
NM_001164277.1(SLC37A4):c.1123+49C>T rs782799385
NM_001164277.1(SLC37A4):c.1123+4A>G rs1555190440
NM_001164277.1(SLC37A4):c.1123+51T>C rs1555190420
NM_001164277.1(SLC37A4):c.1123+55G>A rs1555190418
NM_001164277.1(SLC37A4):c.1123+57C>T rs1555190417
NM_001164277.1(SLC37A4):c.1123+7G>A rs1555190438
NM_001164277.1(SLC37A4):c.1123+8T>C rs377506675
NM_001164277.1(SLC37A4):c.1124-14T>C rs1555190405
NM_001164277.1(SLC37A4):c.1124-1G>A rs782202675
NM_001164277.1(SLC37A4):c.1124-29G>A rs1262126192
NM_001164277.1(SLC37A4):c.1124-41C>T rs782175115
NM_001164277.1(SLC37A4):c.1124-44G>A rs1256742179
NM_001164277.1(SLC37A4):c.1124-53G>A rs1555190416
NM_001164277.1(SLC37A4):c.1124-6T>C rs782323567
NM_001164277.1(SLC37A4):c.1124-6T>G rs782323567
NM_001164277.1(SLC37A4):c.1124-8C>T rs1555190404
NM_001164277.1(SLC37A4):c.1142G>C (p.Gly381Ala) rs1157093654
NM_001164277.1(SLC37A4):c.1148C>T (p.Pro383Leu) rs1555190400
NM_001164277.1(SLC37A4):c.1150T>C (p.Phe384Leu) rs1555190399
NM_001164277.1(SLC37A4):c.1154G>C (p.Ser385Thr) rs782603818
NM_001164277.1(SLC37A4):c.1155C>A (p.Ser385Arg) rs1440498520
NM_001164277.1(SLC37A4):c.1164C>G (p.Ala388=) rs1464199067
NM_001164277.1(SLC37A4):c.1165A>G (p.Lys389Glu) rs1555190395
NM_001164277.1(SLC37A4):c.1173C>T (p.Tyr391=) rs1555190394
NM_001164277.1(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340
NM_001164277.1(SLC37A4):c.1176T>A (p.Ser392Arg) rs782552989
NM_001164277.1(SLC37A4):c.1185A>G (p.Thr395=) rs1555190388
NM_001164277.1(SLC37A4):c.1195G>A (p.Val399Met) rs1555190381
NM_001164277.1(SLC37A4):c.1201G>C (p.Glu401Gln) rs1555190378
NM_001164277.1(SLC37A4):c.1208T>C (p.Ile403Thr) rs1555190374
NM_001164277.1(SLC37A4):c.1211G>C (p.Cys404Ser) rs781818280
NM_001164277.1(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.1(SLC37A4):c.122A>G (p.Glu41Gly) rs782470624
NM_001164277.1(SLC37A4):c.1230C>T (p.Ala410=) rs1555190367
NM_001164277.1(SLC37A4):c.1241T>C (p.Leu414Pro) rs1555190359
NM_001164277.1(SLC37A4):c.1264G>A (p.Gly422Ser) rs1555190347
NM_001164277.1(SLC37A4):c.1268G>T (p.Arg423Leu) rs781849575
NM_001164277.1(SLC37A4):c.1270G>T (p.Val424Leu) rs1438944888
NM_001164277.1(SLC37A4):c.127C>G (p.Pro43Ala) rs781846380
NM_001164277.1(SLC37A4):c.1281G>A (p.Lys427=) rs782137743
NM_001164277.1(SLC37A4):c.1283C>T (p.Ala428Val) rs1245752008
NM_001164277.1(SLC37A4):c.138G>A (p.Lys46=) rs1555191835
NM_001164277.1(SLC37A4):c.140A>G (p.Asp47Gly) rs1555191832
NM_001164277.1(SLC37A4):c.144T>C (p.Asp48=) rs1310970870
NM_001164277.1(SLC37A4):c.148+20G>A rs782050642
NM_001164277.1(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.1(SLC37A4):c.149-11G>A rs1555191644
NM_001164277.1(SLC37A4):c.149-16G>A rs373027415
NM_001164277.1(SLC37A4):c.149-20A>G rs1555191648
NM_001164277.1(SLC37A4):c.149-21T>G rs1555191649
NM_001164277.1(SLC37A4):c.149-22C>T rs369353938
NM_001164277.1(SLC37A4):c.149-23C>T rs1283313486
NM_001164277.1(SLC37A4):c.149-3C>T rs782625122
NM_001164277.1(SLC37A4):c.149-6C>G rs1407509189
NM_001164277.1(SLC37A4):c.149-7C>T rs1316874319
NM_001164277.1(SLC37A4):c.158C>T (p.Thr53Ile) rs953252068
NM_001164277.1(SLC37A4):c.15C>G (p.Gly5=) rs1555191904
NM_001164277.1(SLC37A4):c.160A>G (p.Ser54Gly) rs1555191637
NM_001164277.1(SLC37A4):c.173C>T (p.Ala58Val) rs782083266
NM_001164277.1(SLC37A4):c.178T>C (p.Tyr60His) rs1555191626
NM_001164277.1(SLC37A4):c.184A>G (p.Ile62Val) rs1555191625
NM_001164277.1(SLC37A4):c.185T>G (p.Ile62Ser) rs1555191621
NM_001164277.1(SLC37A4):c.1A>G (p.Met1Val) rs786204740
NM_001164277.1(SLC37A4):c.202G>T (p.Gly68Trp) rs193302885
NM_001164277.1(SLC37A4):c.217C>A (p.Gln73Lys) rs1555191604
NM_001164277.1(SLC37A4):c.217C>G (p.Gln73Glu) rs1555191604
NM_001164277.1(SLC37A4):c.224G>C (p.Ser75Thr) rs1555191603
NM_001164277.1(SLC37A4):c.227C>T (p.Ala76Val) rs782429783
NM_001164277.1(SLC37A4):c.22T>C (p.Tyr8His) rs782578166
NM_001164277.1(SLC37A4):c.240C>G (p.Phe80Leu) rs1191615872
NM_001164277.1(SLC37A4):c.258G>A (p.Leu86=) rs1555191590
NM_001164277.1(SLC37A4):c.263G>T (p.Gly88Val) rs193302886
NM_001164277.1(SLC37A4):c.268G>A (p.Val90Ile) rs1555191582
NM_001164277.1(SLC37A4):c.278T>A (p.Phe93Tyr) rs782563826
NM_001164277.1(SLC37A4):c.282T>C (p.Phe94=) rs1555191568
NM_001164277.1(SLC37A4):c.282T>G (p.Phe94Leu) rs1555191568
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.291C>T (p.Ser97=) rs561054469
NM_001164277.1(SLC37A4):c.302C>T (p.Pro101Leu) rs1555191550
NM_001164277.1(SLC37A4):c.309T>G (p.Phe103Leu) rs1171686379
NM_001164277.1(SLC37A4):c.332G>A (p.Gly111Asp) rs1356550790
NM_001164277.1(SLC37A4):c.345G>A (p.Gly115=) rs782188658
NM_001164277.1(SLC37A4):c.348G>A (p.Leu116=) rs1555191533
NM_001164277.1(SLC37A4):c.351C>T (p.Gly117=) rs1311198538
NM_001164277.1(SLC37A4):c.357C>G (p.Pro119=) rs782358834
NM_001164277.1(SLC37A4):c.360A>G (p.Pro120=) rs1555191522
NM_001164277.1(SLC37A4):c.366G>A (p.Gly122=) rs1555191518
NM_001164277.1(SLC37A4):c.368A>C (p.Lys123Thr) rs1555191517
NM_001164277.1(SLC37A4):c.371T>A (p.Val124Asp) rs1555191510
NM_001164277.1(SLC37A4):c.381+15A>G rs1057520372
NM_001164277.1(SLC37A4):c.381+1G>A rs786204637
NM_001164277.1(SLC37A4):c.381+4A>G rs1555191499
NM_001164277.1(SLC37A4):c.381+8C>T rs782284449
NM_001164277.1(SLC37A4):c.382-10T>C rs914753772
NM_001164277.1(SLC37A4):c.382-15C>T rs1555191417
NM_001164277.1(SLC37A4):c.382-16G>A rs778665353
NM_001164277.1(SLC37A4):c.382-17C>T rs1369693461
NM_001164277.1(SLC37A4):c.382-19G>T rs1380601197
NM_001164277.1(SLC37A4):c.382-3C>G rs1555191407
NM_001164277.1(SLC37A4):c.382-4A>C rs923058912
NM_001164277.1(SLC37A4):c.382-6C>T rs756248657
NM_001164277.1(SLC37A4):c.382T>C (p.Trp128Arg) rs1555191405
NM_001164277.1(SLC37A4):c.382T>G (p.Trp128Gly) rs1555191405
NM_001164277.1(SLC37A4):c.388G>A (p.Glu130Lys) rs1555191401
NM_001164277.1(SLC37A4):c.389A>C (p.Glu130Ala) rs1465764979
NM_001164277.1(SLC37A4):c.402T>G (p.Phe134Leu) rs1555191386
NM_001164277.1(SLC37A4):c.422T>A (p.Leu141Gln) rs1555191378
NM_001164277.1(SLC37A4):c.430A>G (p.Ser144Gly) rs1555191372
NM_001164277.1(SLC37A4):c.44C>T (p.Ser15Leu) rs1555191883
NM_001164277.1(SLC37A4):c.452T>C (p.Leu151Pro) rs1555191353
NM_001164277.1(SLC37A4):c.459T>A (p.Pro153=) rs1555191349
NM_001164277.1(SLC37A4):c.45A>T (p.Ser15=) rs1555191880
NM_001164277.1(SLC37A4):c.468A>G (p.Ala156=) rs1395094300
NM_001164277.1(SLC37A4):c.46G>A (p.Ala16Thr) rs1555191879
NM_001164277.1(SLC37A4):c.471C>T (p.Thr157=) rs775227522
NM_001164277.1(SLC37A4):c.479C>G (p.Ala160Gly) rs1438731101
NM_001164277.1(SLC37A4):c.4G>A (p.Ala2Thr) rs1555191907
NM_001164277.1(SLC37A4):c.508G>A (p.Ala170Thr) rs1397362093
NM_001164277.1(SLC37A4):c.520G>A (p.Ala174Thr) rs1432294427
NM_001164277.1(SLC37A4):c.522A>C (p.Ala174=) rs369409989
NM_001164277.1(SLC37A4):c.550C>T (p.Leu184Phe) rs1555191258
NM_001164277.1(SLC37A4):c.552C>A (p.Leu184=) rs1300746467
NM_001164277.1(SLC37A4):c.555G>C (p.Leu185=) rs891986567
NM_001164277.1(SLC37A4):c.558C>T (p.Leu186=) rs745721191
NM_001164277.1(SLC37A4):c.560T>C (p.Ile187Thr) rs1452797070
NM_001164277.1(SLC37A4):c.561C>A (p.Ile187=) rs1555191248
NM_001164277.1(SLC37A4):c.570A>T (p.Glu190Asp) rs1555191237
NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.1(SLC37A4):c.576T>C (p.Ala192=) rs1555191231
NM_001164277.1(SLC37A4):c.578A>G (p.Asp193Gly) rs777627677
NM_001164277.1(SLC37A4):c.580G>T (p.Val194Phe) rs1041686986
NM_001164277.1(SLC37A4):c.588C>T (p.Leu196=) rs1555191222
NM_001164277.1(SLC37A4):c.59G>C (p.Gly20Ala) rs193302881
NM_001164277.1(SLC37A4):c.606G>T (p.Met202Ile) rs764654621
NM_001164277.1(SLC37A4):c.611C>G (p.Ser204Cys) rs567419206
NM_001164277.1(SLC37A4):c.625+10C>A rs757924969
NM_001164277.1(SLC37A4):c.625+11A>T rs747150144
NM_001164277.1(SLC37A4):c.625+12C>T rs549251533
NM_001164277.1(SLC37A4):c.625+13C>T rs746096087
NM_001164277.1(SLC37A4):c.625+16G>C rs74673344
NM_001164277.1(SLC37A4):c.625+25C>T rs533221443
NM_001164277.1(SLC37A4):c.625+30G>A rs1555191200
NM_001164277.1(SLC37A4):c.625+35C>G rs1555191199
NM_001164277.1(SLC37A4):c.625+4A>C rs770644132
NM_001164277.1(SLC37A4):c.625+6C>T rs762685017
NM_001164277.1(SLC37A4):c.625+7C>T rs1555191207
NM_001164277.1(SLC37A4):c.625G>C (p.Gly209Arg) rs1272300904
NM_001164277.1(SLC37A4):c.626-12T>C rs1555191134
NM_001164277.1(SLC37A4):c.626-16C>G rs1011663035
NM_001164277.1(SLC37A4):c.626-3C>T rs1349289897
NM_001164277.1(SLC37A4):c.630C>T (p.Ser210=) rs1470803048
NM_001164277.1(SLC37A4):c.649C>T (p.Leu217=) rs1555191117
NM_001164277.1(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289
NM_001164277.1(SLC37A4):c.679T>C (p.Trp227Arg) rs1176277831
NM_001164277.1(SLC37A4):c.680G>C (p.Trp227Ser) rs1555191101
NM_001164277.1(SLC37A4):c.682G>A (p.Val228Met) rs782167890
NM_001164277.1(SLC37A4):c.684G>A (p.Val228=) rs925741468
NM_001164277.1(SLC37A4):c.690C>G (p.Ser230=) rs782333619
NM_001164277.1(SLC37A4):c.703G>C (p.Val235Leu) rs141105181
NM_001164277.1(SLC37A4):c.708G>A (p.Val236=) rs1223570543
NM_001164277.1(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.1(SLC37A4):c.715G>A (p.Val239Ile) rs1555191080
NM_001164277.1(SLC37A4):c.71A>G (p.Tyr24Cys) rs569831771
NM_001164277.1(SLC37A4):c.721A>G (p.Thr241Ala) rs1555191079
NM_001164277.1(SLC37A4):c.723C>G (p.Thr241=) rs782547500
NM_001164277.1(SLC37A4):c.725G>C (p.Cys242Ser) rs1555191077
NM_001164277.1(SLC37A4):c.728G>A (p.Cys243Tyr) rs1555191076
NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543
NM_001164277.1(SLC37A4):c.747C>A (p.Phe249Leu) rs782584884
NM_001164277.1(SLC37A4):c.747C>T (p.Phe249=) rs782584884
NM_001164277.1(SLC37A4):c.760G>A (p.Glu254Lys) rs1555191060
NM_001164277.1(SLC37A4):c.779T>G (p.Leu260Arg) rs1555191054
NM_001164277.1(SLC37A4):c.780T>C (p.Leu260=) rs1555191052
NM_001164277.1(SLC37A4):c.784+12A>G rs976964945
NM_001164277.1(SLC37A4):c.784+13T>C rs1351380633
NM_001164277.1(SLC37A4):c.784+16G>A rs1283553362
NM_001164277.1(SLC37A4):c.784+8G>A rs782075266
NM_001164277.1(SLC37A4):c.785+6A>T rs369358436
NM_001164277.1(SLC37A4):c.785-20A>G rs1555191008
NM_001164277.1(SLC37A4):c.7G>C (p.Ala3Pro) rs1555191906
NM_001164277.1(SLC37A4):c.803C>T (p.Ala268Val) rs1029013255
NM_001164277.1(SLC37A4):c.823G>A (p.Val275Ile) rs1226267943
NM_001164277.1(SLC37A4):c.827G>C (p.Gly276Ala) rs1350014866
NM_001164277.1(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
NM_001164277.1(SLC37A4):c.849G>A (p.Leu283=) rs369860234
NM_001164277.1(SLC37A4):c.862A>G (p.Met288Val) rs1555190944
NM_001164277.1(SLC37A4):c.866C>T (p.Ala289Val) rs1555190938
NM_001164277.1(SLC37A4):c.867A>C (p.Ala289=) rs1555190933
NM_001164277.1(SLC37A4):c.870+19C>T rs782487764
NM_001164277.1(SLC37A4):c.870+5G>A rs1250046397
NM_001164277.1(SLC37A4):c.870+6C>G rs377101167
NM_001164277.1(SLC37A4):c.870+6C>T rs377101167
NM_001164277.1(SLC37A4):c.870+7G>A rs782177602
NM_001164277.1(SLC37A4):c.870G>C (p.Lys290Asn) rs1555190931
NM_001164277.1(SLC37A4):c.871-10G>A rs1555190776
NM_001164277.1(SLC37A4):c.871-11T>C rs1265857875
NM_001164277.1(SLC37A4):c.871-12C>T rs200279011
NM_001164277.1(SLC37A4):c.871-16G>A rs766656496
NM_001164277.1(SLC37A4):c.871-17C>T rs1286218803
NM_001164277.1(SLC37A4):c.871-2A>C rs920196110
NM_001164277.1(SLC37A4):c.871-6C>G rs781985446
NM_001164277.1(SLC37A4):c.874G>C (p.Gly292Arg) rs1320796917
NM_001164277.1(SLC37A4):c.877C>A (p.Leu293Met) rs1555190769
NM_001164277.1(SLC37A4):c.879G>C (p.Leu293=) rs1555190765
NM_001164277.1(SLC37A4):c.884A>G (p.Asn295Ser) rs1555190764
NM_001164277.1(SLC37A4):c.886T>C (p.Tyr296His) rs763008231
NM_001164277.1(SLC37A4):c.886T>G (p.Tyr296Asp) rs763008231
NM_001164277.1(SLC37A4):c.891G>A (p.Gly297=) rs1388277495
NM_001164277.1(SLC37A4):c.89C>A (p.Thr30Asn) rs987244110
NM_001164277.1(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.1(SLC37A4):c.904G>A (p.Gly302Ser) rs1555190753
NM_001164277.1(SLC37A4):c.906C>A (p.Gly302=) rs374287329
NM_001164277.1(SLC37A4):c.907C>T (p.Leu303=) rs1555190749
NM_001164277.1(SLC37A4):c.909G>A (p.Leu303=) rs1555190747
NM_001164277.1(SLC37A4):c.912_913insGC (p.Leu305fs) rs1555190745
NM_001164277.1(SLC37A4):c.913C>T (p.Leu305=) rs1555190743
NM_001164277.1(SLC37A4):c.920T>C (p.Met307Thr) rs1555190739
NM_001164277.1(SLC37A4):c.923T>C (p.Met308Thr) rs1555190738
NM_001164277.1(SLC37A4):c.925G>A (p.Ala309Thr) rs1335122136
NM_001164277.1(SLC37A4):c.92T>A (p.Phe31Tyr) rs1555191854
NM_001164277.1(SLC37A4):c.931A>G (p.Met311Val) rs957014690
NM_001164277.1(SLC37A4):c.937G>A (p.Val313Met) rs1555190726
NM_001164277.1(SLC37A4):c.93C>G (p.Phe31Leu) rs955402383
NM_001164277.1(SLC37A4):c.942C>T (p.Ser314=) rs1555190722
NM_001164277.1(SLC37A4):c.957G>A (p.Arg319=) rs973616226
NM_001164277.1(SLC37A4):c.957G>C (p.Arg319=) rs973616226
NM_001164277.1(SLC37A4):c.958G>A (p.Val320Ile) rs1168556886
NM_001164277.1(SLC37A4):c.958G>T (p.Val320Leu) rs1168556886
NM_001164277.1(SLC37A4):c.96C>T (p.Ser32=) rs782234184
NM_001164277.1(SLC37A4):c.984+195C>T rs1189232257
NM_001164277.1(SLC37A4):c.984+206C>T rs1555190652
NM_001164277.1(SLC37A4):c.984+217C>T rs1213577149
NM_001164277.1(SLC37A4):c.984+219T>C rs1555190648
NM_001164277.1(SLC37A4):c.984+226C>T rs959584744
NM_001164277.1(SLC37A4):c.984+228C>G rs201997939
NM_001164277.1(SLC37A4):c.984+234C>T rs1555190642
NM_001164277.1(SLC37A4):c.984+240_984+241insTA rs782397393
NM_001164277.1(SLC37A4):c.984+241C>G rs1555190639
NM_001164277.1(SLC37A4):c.984+244T>G rs1555190637
NM_001164277.1(SLC37A4):c.984+245C>T rs1348642148
NM_001164277.1(SLC37A4):c.984+246G>A rs1314659619
NM_001164277.1(SLC37A4):c.984+248G>A rs369907198
NM_001164277.1(SLC37A4):c.984+252C>G rs1173737788
NM_001164277.1(SLC37A4):c.984+259G>A rs1384684015
NM_001164277.1(SLC37A4):c.984+259G>C rs1384684015
NM_001164277.1(SLC37A4):c.984+270C>T rs782800127
NM_001164277.1(SLC37A4):c.984+271A>C rs1313690608
NM_001164277.1(SLC37A4):c.984+276G>A rs1555190629
NM_001164277.1(SLC37A4):c.984+278G>A rs781909226
NM_001164277.1(SLC37A4):c.984+283A>G rs1009983005
NM_001164277.1(SLC37A4):c.984+286G>A rs1019246810
NM_001164277.1(SLC37A4):c.984+288T>G rs1555190624
NM_001164277.1(SLC37A4):c.984+290T>C rs781943252
NM_001164277.1(SLC37A4):c.984+295G>A rs1208499204
NM_001164277.1(SLC37A4):c.984+3A>G rs782121210
NM_001164277.1(SLC37A4):c.985-11G>A rs1487063543
NM_001164277.1(SLC37A4):c.985-12T>C rs1180556897
NM_001164277.1(SLC37A4):c.985-14T>G rs863224211
NM_001164277.1(SLC37A4):c.985-15C>T rs782640506
NM_001164277.1(SLC37A4):c.985-18C>T rs374784735
NM_001164277.1(SLC37A4):c.985-8C>T rs782425309
NM_001164277.1(SLC37A4):c.985C>A (p.Leu329Ile) rs1555190563
NM_001164277.1(SLC37A4):c.989G>C (p.Trp330Ser) rs782282206
NM_001164277.1(SLC37A4):c.993C>G (p.Ile331Met) rs1555190553
NM_001164277.1(SLC37A4):c.993C>T (p.Ile331=) rs1555190553
NM_001164277.1(SLC37A4):c.997G>C (p.Val333Leu) rs782443770
NM_001164277.1(SLC37A4):c.99T>G (p.Phe33Leu) rs1555191848
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3]) rs782663171
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del) rs1555191121
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs) rs781869215
NM_001164277.2(SLC37A4):c.898C>T rs193302880
NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001164279.2(SLC37A4):c.-172+96_-172+99del rs1447366650
NM_001258332.1(GALT):c.-298T>G rs1554709099
NM_001287174.2(ABCC8):c.1630+1G>T rs773306994
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.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
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.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del) rs1555882090
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs) rs1555882068
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup) rs773191073
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) rs1555880930
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs) rs1555880894
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs) rs774356408
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu) rs764841449
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) rs764841449
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) rs1284747916
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) rs144572349
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser) rs778638155
NM_001370658.1(BTD):c.*159G>A rs530872564
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_-17+3del rs1050514843
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.-58G>A rs1553646827
NM_001370658.1(BTD):c.-59T>A rs768258310
NM_001370658.1(BTD):c.-59T>C rs768258310
NM_001370658.1(BTD):c.-60A>G rs1553646820
NM_001370658.1(BTD):c.-74G>A rs200884349
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) rs760612966
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.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
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.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960
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.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
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.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
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.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
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.261T>G (p.Ile87Met) rs1024847163
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
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.382C>T (p.Arg128Cys) rs137877018
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) rs1057516812
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del) rs1553653699
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
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.572G>A (p.Arg191His) rs112195009
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869
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.604G>A (p.Asp202Asn) rs200337373
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.697C>T (p.Pro233Ser) rs397514383
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384
NM_001370658.1(BTD):c.721_723del (p.Tyr241del) rs1553653835
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.795G>C (p.Gln265His) rs1553653855
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.862A>C (p.Met288Leu) rs757604137
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.881A>G (p.His294Arg) rs1553653888
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr) rs1553653894
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_001467.6(SLC37A4):c.*1_*2AG[2] rs782195068
NM_001467.6(SLC37A4):c.1125-7_1125-6del rs782342989
NM_001467.6(SLC37A4):c.149-35del rs1555191655
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.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.786-18_786-16del rs1555191005
NM_001467.6(SLC37A4):c.805del (p.Leu269fs) rs1555190992
NM_001467.6(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001467.6(SLC37A4):c.872-15_872-9dup rs782321213
NM_001467.6(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001467.6(SLC37A4):c.985+196del rs1555190657
NM_001467.6(SLC37A4):c.985+238dup rs1555190640
NM_001467.6(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT rs1555190633
NM_001467.6(SLC37A4):c.986-3_989del rs1555190559
NM_001467.6(SLC37A4):c.986-4del rs1555190566
NM_005609.4(PYGM):c.1092+1G>A rs749560316
NM_005609.4(PYGM):c.1093-1G>T rs1163710370
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208
NM_005609.4(PYGM):c.13_14del (p.Leu5fs) rs772194378
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn) rs1555134900
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) rs1057516612
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.1680del (p.Asn561fs) rs1057516259
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.1768+2T>G rs747513238
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.182G>A (p.Arg61His) rs145514333
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.1A>T (p.Met1Leu) 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.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.2249TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
NM_005609.4(PYGM):c.2319del (p.Val774fs) rs1462767117
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) rs1400353740
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.347T>C (p.Leu116Pro) rs776680924
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) rs1555136459
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
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.475G>A (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) rs1555135785
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.875T>C (p.Leu292Pro) rs780375860
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304
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.286_287+1del rs750079140
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) rs1554746097
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.403_404+1del rs1554747007
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.456_464del (p.Gln153_Thr155del) rs1243273371
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.608_609del (p.Pro203fs) rs180177316
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.83+51G>A rs1554746162
NM_012203.2(GRHPR):c.83+51_83+52delinsA rs35891798
NM_012203.2(GRHPR):c.84-2A>G rs180177319
NM_012203.2(GRHPR):c.849dup (p.Thr284fs) rs1554748574
NM_012203.2(GRHPR):c.863del (p.Cys288fs) rs1554748598
NM_012203.2(GRHPR):c.865+2dup rs1218448371
NM_012203.2(GRHPR):c.866-2A>G rs200316691
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) rs200632069
NM_012203.2(GRHPR):c.935dup (p.Asn312fs) rs1554749668
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs) rs1554749672
NM_012203.2(GRHPR):c.954del (p.Glu320fs) rs1057516831
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064
NM_012203.2(GRHPR):c.964_965del (p.Met322fs) rs1554749707
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp) rs1554749727
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.110G>T (p.Gly37Val) rs772722925
NM_138413.4(HOGA1):c.122dup (p.Val42fs) rs1425736036
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del) rs1554872338
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.341-1G>A rs1554874130
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val) rs374367160
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.529G>T (p.Asp177Tyr) rs777601935
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256
NM_138413.4(HOGA1):c.700+2T>G rs990830655
NM_138413.4(HOGA1):c.701-2A>G rs776817346
NM_138413.4(HOGA1):c.713del (p.Gly238fs) rs760930050
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser) rs886047518
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter) rs752277936
NM_138413.4(HOGA1):c.834+1G>A rs749315029
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182
NM_152419.3(HGSNAT):c.1012+2dup rs1554533241
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.1150C>T (p.Arg384Ter) rs775078211
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
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.1464+1G>A rs398124545
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928
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.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs) rs1298170960
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter) rs1554538302
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs) rs1554538306
NM_152419.3(HGSNAT):c.199_200insCAT (p.Leu67_Thr68insSer) rs1409093216
NM_152419.3(HGSNAT):c.234+1G>A rs483352908
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del) rs1274083689
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) rs765211666
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934
NM_152419.3(HGSNAT):c.372-2A>G rs483352896
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln) rs1554529803
NM_152419.3(HGSNAT):c.493+1G>A rs193066451
NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup) rs1303048852
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup) rs1554531686
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.743+1del rs1554531744
NM_152419.3(HGSNAT):c.744-2A>G rs762402992
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys) rs1554532014
NM_152419.3(HGSNAT):c.851+1G>A rs1554532283
NM_152419.3(HGSNAT):c.851+1G>T rs1554532283
NM_152419.3(HGSNAT):c.852-1G>A rs1447092074
NM_152419.3(HGSNAT):c.852-2A>C rs755710040
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933
NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs) rs1554526454

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