ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by Invitae

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 996
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HGVS dbSNP
NC_000003.11:g.170744815T>C
NC_000003.11:g.170744893G>A
NC_000003.11:g.170744920T>G
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+19_394+20del rs575232762
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.622+13T>C rs75260482
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-21dup
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000035.4(ALDOB):c.-214G>A rs185972191
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008
NM_000035.4(ALDOB):c.324+8C>G rs118168553
NM_000035.4(ALDOB):c.400C>A (p.Arg134Ser) rs10123355
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys) rs574635615
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924
NM_000046.5(ARSB):c.204C>A (p.Arg68=)
NM_000046.5(ARSB):c.313-12T>C
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000108.5(DLD):c.1236+13A>G rs2701026
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.338-18T>A rs184851386
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765
NM_000108.5(DLD):c.684+7G>A rs75123588
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000147.4(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001
NM_000147.4(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.4(FUCA1):c.327G>A (p.Gln109=) rs61996281
NM_000147.4(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.4(FUCA1):c.4C>T (p.Arg2Trp) rs2070955
NM_000147.4(FUCA1):c.648C>T (p.Tyr216=) rs80358198
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000147.4(FUCA1):c.857A>G (p.Gln286Arg) rs13551
NM_000151.4(G6PC1):c.-77G>A
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.562+10G>A rs199505156
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1377C>T (p.Asp459=)
NM_000152.5(GAA):c.1438-19G>C rs2304844
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.1754+12G>A rs2304840
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.2040+20A>G rs2304836
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2331+20G>A rs2304832
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.547-39T>G rs12452721
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.547-67C>G
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000152.5(GAA):c.955+12G>A rs2252455
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615
NM_000154.2(GALK1):c.1167G>A (p.Val389=) rs150586960
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000154.2(GALK1):c.611+9C>T rs370204015
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845
NM_000154.2(GALK1):c.957G>A (p.Glu319=) rs76160162
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171
NM_000155.4(GALT):c.253-5G>A rs762136953
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000158.4(GBE1):c.1000= (p.Ile334=)
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)
NM_000158.4(GBE1):c.1109-6del
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.143+10G>T rs9820490
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.555+14del rs573234623
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644
NM_000181.4(GUSB):c.-12G>A rs2279903
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849
NM_000181.4(GUSB):c.1653+151A>G rs1880555
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361
NM_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979
NM_000181.4(GUSB):c.725-16C>T
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.663+17T>C rs6565647
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837
NM_000199.5(SGSH):c.746-4A>G rs7218267
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.103+7C>T rs369735286
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891
NM_000202.8(IDS):c.1113G>A (p.Pro371=)
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300
NM_000202.8(IDS):c.1158C>T (p.Ser386=)
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087
NM_000202.8(IDS):c.1290G>A (p.Glu430=)
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys) rs142248439
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556
NM_000202.8(IDS):c.236C>G (p.Ala79Gly)
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858
NM_000202.8(IDS):c.27C>T (p.Gly9=)
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245
NM_000202.8(IDS):c.418+12T>C
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-6del rs781852261
NM_000202.8(IDS):c.41G>A (p.Gly14Asp)
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) rs143474305
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524
NM_000202.8(IDS):c.781C>A (p.Pro261Thr)
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857
NM_000202.8(IDS):c.868G>A (p.Val290Met)
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953
NM_000202.8(IDS):c.894G>A (p.Gln298=)
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643
NM_000202.8(IDS):c.957C>A (p.Asp319Glu)
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436
NM_000203.5(IDUA):c.1190-19G>C
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060
NM_000203.5(IDUA):c.299+1947A>G rs148386572
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000203.5(IDUA):c.299+7G>A rs200911718
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626
NM_000203.5(IDUA):c.493+10C>T rs200000194
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.598-15C>T rs2854827
NM_000262.3(NAGA):c.760-7C>A rs150693978
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile)
NM_000262.3(NAGA):c.957+4C>G rs55715427
NM_000263.4(NAGLU):c.1021+15T>C
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=)
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000263.4(NAGLU):c.764+19C>G rs77738617
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=)
NM_000284.4(PDHA1):c.1009-9A>C
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=)
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=)
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.217C>A (p.Arg73=)
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838
NM_000284.4(PDHA1):c.292-5C>T rs191666624
NM_000284.4(PDHA1):c.327C>T (p.Asn109=)
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654
NM_000284.4(PDHA1):c.390C>T (p.Ser130=)
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886
NM_000284.4(PDHA1):c.418+8G>A
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
NM_000284.4(PDHA1):c.604-10C>T rs201754585
NM_000284.4(PDHA1):c.604-15C>T rs13440874
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
NM_000284.4(PDHA1):c.708G>A (p.Ala236=)
NM_000284.4(PDHA1):c.759+10C>G rs375488072
NM_000284.4(PDHA1):c.759+26GGCCAA[2]
NM_000284.4(PDHA1):c.759+9A>G
NM_000284.4(PDHA1):c.760-15C>A rs7058209
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213
NM_000284.4(PDHA1):c.831+15C>T rs190157093
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala)
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1341+8del
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) rs554664722
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877
NM_000290.4(PGAM2):c.324G>A (p.Gly108=) rs112828964
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469
NM_000292.3(PHKA2):c.1246-12C>T rs759418361
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=) rs139852230
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825
NM_000292.3(PHKA2):c.1964-7A>G rs376658808
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=) rs61729452
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=) rs748792637
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) rs139136352
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699
NM_000292.3(PHKA2):c.3282+13G>A rs200925279
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=) rs112249974
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala) rs142034171
NM_000292.3(PHKA2):c.718-3C>T rs140662042
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369
NM_000292.3(PHKA2):c.849T>A (p.Ile283=) rs61733284
NM_000292.3(PHKA2):c.963C>T (p.Phe321=) rs35010660
NM_000293.3(PHKB):c.1126+14T>G rs28691569
NM_000293.3(PHKB):c.1363+13G>T rs117536391
NM_000293.3(PHKB):c.1446G>A (p.Arg482=) rs149812232
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000293.3(PHKB):c.1797+8C>T rs77462273
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849
NM_000293.3(PHKB):c.2532G>A (p.Glu844=) rs140117779
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933
NM_000293.3(PHKB):c.3267G>A (p.Pro1089=) rs146134171
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter) rs141733590
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000293.3(PHKB):c.595-5T>G rs369184808
NM_000293.3(PHKB):c.76+2537G>A
NM_000293.3(PHKB):c.775-6G>C rs56268318
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) rs143983247
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602
NM_000294.3(PHKG2):c.927+17C>G rs143558058
NM_000294.3(PHKG2):c.96-10G>T rs74015042
NM_000308.3(CTSA):c.1002+7G>A rs2075961
NM_000308.3(CTSA):c.1142+10C>T rs4608591
NM_000308.3(CTSA):c.1407G>A (p.Thr469=) rs25649
NM_000308.3(CTSA):c.159C>T (p.Ile53=) rs150140984
NM_000308.3(CTSA):c.273C>G (p.Pro91=) rs742035
NM_000308.3(CTSA):c.924-15del rs3215446
NM_000308.3(CTSA):c.934G>A (p.Asp312Asn) rs142892564
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) rs72555383
NM_000308.4(CTSA):c.444+14C>T
NM_000308.4(CTSA):c.948+13G>T
NM_000340.2(SLC2A2):c.1069-9T>C rs5407
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) rs140138702
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000340.2(SLC2A2):c.496+8A>T rs5402
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405
NM_000340.2(SLC2A2):c.776-15C>T rs5406
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456
NM_000343.4(SLC5A1):c.1129+7T>G rs5998233
NM_000343.4(SLC5A1):c.1130-9C>T rs33914280
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) rs17683430
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=) rs17683448
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=)
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) rs17683011
NM_000343.4(SLC5A1):c.1666-5T>C rs33968460
NM_000343.4(SLC5A1):c.1772-6G>A
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=) rs17683704
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln) rs33954001
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=) rs33943816
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=) rs33954397
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala) rs33951240
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127
NM_000404.4(GLB1):c.1209C>G (p.Pro403=) rs528690108
NM_000404.4(GLB1):c.1233+8T>C rs13093698
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000404.4(GLB1):c.1561= (p.Cys521=) rs4302331
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678
NM_000404.4(GLB1):c.1833G>A (p.Ser611=) rs201755284
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776
NM_000404.4(GLB1):c.458-11T>C rs34204221
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.792+18G>A
NM_000404.4(GLB1):c.793-14dup
NM_000507.4(FBP1):c.237C>T (p.Asn79=) rs201591116
NM_000507.4(FBP1):c.276G>T (p.Thr92=) rs16910744
NM_000507.4(FBP1):c.426+7C>T rs8192689
NM_000507.4(FBP1):c.651C>T (p.Ala217=) rs1042144
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys) rs1769259
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000507.4(FBP1):c.705+14C>T rs2297084
NM_000507.4(FBP1):c.826-9G>C rs200948424
NM_000507.4(FBP1):c.865A>T (p.Met289Leu) rs145771944
NM_000507.4(FBP1):c.906C>T (p.Ala302=) rs28369776
NM_000507.4(FBP1):c.960A>G (p.Gly320=) rs1769257
NM_000512.5(GALNS):c.1002+17C>T rs78494153
NM_000512.5(GALNS):c.1003-42C>T rs139088253
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929
NM_000512.5(GALNS):c.244+19C>T rs35137494
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544
NM_000512.5(GALNS):c.566+10C>T rs77514811
NM_000512.5(GALNS):c.566+5T>C rs3743545
NM_000512.5(GALNS):c.567-3C>T
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889
NM_000512.5(GALNS):c.634-19G>A rs12934499
NM_000512.5(GALNS):c.634-20C>T rs17603837
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.759-67G>A
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749
NM_000512.5(GALNS):c.899-4C>G rs143793386
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076
NM_000528.4(MAN2B1):c.1419+16C>A
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230
NM_000528.4(MAN2B1):c.2436+17C>T rs148420017
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=) rs199592101
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys) rs370276057
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464
NM_000642.3(AGL):c.1185+15T>C rs17121466
NM_000642.3(AGL):c.1283+13del
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929
NM_000642.3(AGL):c.1611+11del
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000642.3(AGL):c.2001+8T>C rs3736296
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305
NM_000642.3(AGL):c.2192C>T (p.Ala731Val)
NM_000642.3(AGL):c.2280C>T (p.Ser760=) rs373513564
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2546+10T>C rs74551473
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.3(AGL):c.2812+11G>A rs555929
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252
NM_000642.3(AGL):c.3084-8T>C rs186402161
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298
NM_000642.3(AGL):c.3260-19G>A rs140333425
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.3(AGL):c.3792A>T (p.Gly1264=) rs148606237
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306
NM_000642.3(AGL):c.959-18G>A rs634880
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.204+9A>C rs202068841
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_000925.4(PDHB):c.303+16T>C rs75014325
NM_000925.4(PDHB):c.434_435delinsAG (p.Arg145Lys)
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_001008216.2(GALE):c.237+11G>A
NM_001008216.2(GALE):c.709+14C>G rs6692104
NM_001008216.2(GALE):c.709+18G>A rs200584878
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796
NM_001008216.2(GALE):c.873+13G>A rs760941
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237
NM_001040716.2(PC):c.1494A>G (p.Gln498=) rs761935997
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.1604-17G>A rs79317761
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169
NM_001040716.2(PC):c.1683G>A (p.Pro561=) rs113071273
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892
NM_001040716.2(PC):c.2223+19C>T rs45457699
NM_001040716.2(PC):c.2224-9T>G rs45560936
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) rs145400751
NM_001040716.2(PC):c.2535C>T (p.Tyr845=) rs534635326
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036
NM_001040716.2(PC):c.2586T>C (p.Tyr862=)
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) rs56705397
NM_001040716.2(PC):c.2856C>T (p.Ile952=) rs183661331
NM_001040716.2(PC):c.3042C>T (p.Pro1014=)
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445
NM_001040716.2(PC):c.321+5G>A rs200766019
NM_001040716.2(PC):c.322-10C>T rs371834866
NM_001040716.2(PC):c.3234T>C (p.Phe1078=)
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506
NM_001040716.2(PC):c.634-5C>T
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461
NM_001040716.2(PC):c.951C>T (p.His317=) rs142309583
NM_001122606.1(LAMP2):c.1094-2739T>C rs752231323
NM_001164277.1(SLC37A4):c.1062C>T (p.Asn354=) rs61730035
NM_001164277.1(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164277.1(SLC37A4):c.1224G>A (p.Thr408=) rs8192696
NM_001164277.1(SLC37A4):c.1275C>T (p.Ser425=) rs35010541
NM_001164277.1(SLC37A4):c.1278G>A (p.Lys426=) rs34871377
NM_001164277.1(SLC37A4):c.149-14A>G rs79849261
NM_001164277.1(SLC37A4):c.183T>C (p.Ala61=) rs34123220
NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) rs201036248
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001164277.1(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644
NM_001164277.1(SLC37A4):c.625+14C>T rs56394886
NM_001164277.1(SLC37A4):c.625+19C>T rs741811
NM_001164277.1(SLC37A4):c.781G>A (p.Val261Ile) rs561701030
NM_001164277.1(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699
NM_001164277.1(SLC37A4):c.991A>G (p.Ile331Val) rs201967384
NM_001164277.2(SLC37A4):c.626+16G>A
NM_001243177.4(ALDOA):c.142-63G>C
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-12T>C rs367728041
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1893-6C>T rs139904712
NM_001352514.2(HLCS):c.1960+16T>A rs73398135
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126
NM_001352514.2(HLCS):c.2451-19C>T rs78671947
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.494-13A>G rs76785742
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097
NM_001365304.1(LOC112694756):c.*1320C>T rs111252736
NM_001365304.1(LOC112694756):c.*1415C>T rs200761497
NM_001365304.1(LOC112694756):c.*1548G>A rs138824667
NM_001365304.1(LOC112694756):c.*995C>G rs112110009
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001467.6(SLC37A4):c.-195-64C>T rs56258965
NM_001467.6(SLC37A4):c.527= (p.Cys176=) rs56966114
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys) rs77325391
NM_001739.2(CA5A):c.138C>A (p.Asn46Lys) rs74041853
NM_001739.2(CA5A):c.143-9T>A rs12922226
NM_001739.2(CA5A):c.453C>T (p.Pro151=) rs7186698
NM_001739.2(CA5A):c.645C>T (p.Phe215=) rs149154082
NM_001739.2(CA5A):c.807A>T (p.Ala269=) rs72816311
NM_001739.2(CA5A):c.882G>A (p.Ala294=) rs150891997
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390
NM_001931.5(DLAT):c.506+11C>T rs77846695
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_001931.5(DLAT):c.975+16G>T
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292
NM_002076.4(GNS):c.193-9C>T rs372633889
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291
NM_002076.4(GNS):c.459+14T>C rs78614637
NM_002076.4(GNS):c.526-6del
NM_002076.4(GNS):c.792+16A>G
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) rs5448
NM_002103.5(GYS1):c.1549+7G>A rs5449
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.1749C>T (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011
NM_002103.5(GYS1):c.234A>G (p.Glu78=) rs146683677
NM_002103.5(GYS1):c.300+8G>A rs5454
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458
NM_002103.5(GYS1):c.492+9C>T rs191213443
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460
NM_002103.5(GYS1):c.987C>T (p.Ala329=) rs180906371
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.3(LAMP2):c.1162G>T (p.Val388Leu)
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) rs397516735
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741
NM_002294.3(LAMP2):c.300G>A (p.Ala100=) rs765548221
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.3(LAMP2):c.742-16TCT[2] rs730880476
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.750A>C (p.Ser250=) rs765836082
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=) rs61732499
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=) rs148981522
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) rs138066694
NM_002637.4(PHKA1):c.492C>T (p.Phe164=) rs149354112
NM_002863.5(PYGL):c.1020C>T (p.Asp340=) rs2075643
NM_002863.5(PYGL):c.1093-6C>A rs147211684
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189
NM_002863.5(PYGL):c.1621-6T>C rs74539788
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.2016C>T (p.Thr672=) rs15669
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135
NM_002863.5(PYGL):c.424+6T>A rs146741789
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) rs946616
NM_002863.5(PYGL):c.691G>A (p.Val231Met) rs148378112
NM_002863.5(PYGL):c.772+16G>T rs17123173
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) rs35501326
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563
NM_004130.3(GYG1):c.114C>T (p.Leu38=) rs61733452
NM_004130.3(GYG1):c.137C>G (p.Ser46Cys) rs142784073
NM_004130.3(GYG1):c.159A>G (p.Thr53=) rs148619511
NM_004130.3(GYG1):c.319-12C>T rs114156848
NM_004130.3(GYG1):c.452A>T (p.His151Leu) rs35054019
NM_004130.3(GYG1):c.552G>A (p.Pro184=) rs4938
NM_004130.3(GYG1):c.609G>A (p.Val203=) rs75445811
NM_004130.4(GYG1):c.1041T>A (p.Thr347=)
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337
NM_005271.5(GLUD1):c.1060-10T>A rs17096421
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417
NM_005271.5(GLUD1):c.647-5C>G rs201611802
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572
NM_005566.4(LDHA):c.348C>A (p.Ile116=) rs6498
NM_005566.4(LDHA):c.387G>A (p.Pro129=) rs61752915
NM_005566.4(LDHA):c.483C>T (p.Ser161=) rs4687
NM_005566.4(LDHA):c.519A>G (p.Leu173=) rs4820
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721
NM_005566.4(LDHA):c.710+9T>A rs182873744
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1093-13dup
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) rs371264447
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.1827+7A>G rs532747
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) rs200537357
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.661-5del rs768761419
NM_005609.4(PYGM):c.999+20C>T rs201711087
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.178-8A>G rs113584126
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005908.4(MANBA):c.2416-20dup
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032
NM_006859.4(LIAS):c.393+10G>A rs372094616
NM_006859.4(LIAS):c.393+8C>A rs201574806
NM_006859.4(LIAS):c.45+15G>A rs2687959
NM_006859.4(LIAS):c.507A>G (p.Glu169=) rs35086467
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949
NM_006859.4(LIAS):c.737+13A>T rs79572060
NM_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265
NM_006859.4(LIAS):c.884-14T>A rs2125314
NM_013995.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_013995.2(LAMP2):c.385G>A (p.Ala129Thr) rs149276836
NM_013995.2(LAMP2):c.504C>T (p.Tyr168=) rs150520869
NM_013995.2(LAMP2):c.74G>A (p.Arg25Gln) rs750118236
NM_013995.2(LAMP2):c.797G>A (p.Arg266His) rs200934351
NM_013995.2(LAMP2):c.877C>A (p.Arg293=) rs727503118
NM_013995.2(LAMP2):c.929-5T>C rs375341409
NM_016203.4(PRKAG2):c.-26C>T rs66628686
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409
NM_016203.4(PRKAG2):c.1234-317T>G
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016203.4(PRKAG2):c.467-12630G>T
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) rs201735117
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=) rs61752000
NM_018297.4(NGLY1):c.123C>T (p.Asn41=) rs142425326
NM_018297.4(NGLY1):c.1260+7T>G rs6550987
NM_018297.4(NGLY1):c.1261-11A>G rs192062614
NM_018297.4(NGLY1):c.132-14T>C rs77109827
NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile) rs564037973
NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser) rs544148699
NM_018297.4(NGLY1):c.1722A>G (p.Gln574=) rs74650888
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=) rs73155397
NM_018297.4(NGLY1):c.246+8T>A rs373747843
NM_018297.4(NGLY1):c.493-19dup
NM_018297.4(NGLY1):c.493-9del rs746574174
NM_018297.4(NGLY1):c.550G>T (p.Val184Phe) rs139636452
NM_018297.4(NGLY1):c.881+8C>T rs143998271
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180
NM_021957.4(GYS2):c.1169+12A>T rs4639981
NM_021957.4(GYS2):c.1229+11G>A rs1871137
NM_021957.4(GYS2):c.1230-14dup
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu) rs16924002
NM_021957.4(GYS2):c.1251C>T (p.Asn417=) rs139882761
NM_021957.4(GYS2):c.1389T>C (p.Ile463=) rs146434233
NM_021957.4(GYS2):c.1464A>G (p.Leu488=) rs35403985
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala) rs61733199
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298
NM_021957.4(GYS2):c.1872A>G (p.Glu624=) rs142883971
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346
NM_021957.4(GYS2):c.1965G>C (p.Gln655His) rs117639846
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773
NM_021957.4(GYS2):c.2067C>T (p.His689=) rs7954038
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049
NM_021957.4(GYS2):c.577G>A (p.Ala193Thr) rs16924038
NM_021957.4(GYS2):c.615C>T (p.His205=) rs569279347
NM_021957.4(GYS2):c.942-17G>A rs8192697
NM_031229.4(RBCK1):c.1257C>T (p.Ala419=)
NM_031229.4(RBCK1):c.144G>A (p.Glu48=) rs41281892
NM_031229.4(RBCK1):c.1453-10C>T rs112086441
NM_031229.4(RBCK1):c.150C>T (p.Ser50=) rs149008463
NM_031229.4(RBCK1):c.168-20G>T
NM_031229.4(RBCK1):c.261+15G>T rs11698154
NM_031229.4(RBCK1):c.738G>T (p.Ala246=)
NM_031229.4(RBCK1):c.756+3G>A rs146804136
NM_031229.4(RBCK1):c.757-15G>C
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870
NM_053013.4(ENO3):c.1041C>T (p.Ile347=) rs114208569
NM_053013.4(ENO3):c.1176+8T>C rs111926990
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067
NM_053013.4(ENO3):c.1235+3A>G rs73973669
NM_053013.4(ENO3):c.1236-17C>T rs77614413
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974
NM_053013.4(ENO3):c.240+17G>A rs75279666
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239
NM_053013.4(ENO3):c.417G>A (p.Gly139=) rs142390642
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.789G>A (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.828C>T (p.Leu276=) rs35119507
NM_053013.4(ENO3):c.86-10C>T rs201571802
NM_053013.4(ENO3):c.86-3del rs151153333
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257
NM_053013.4(ENO3):c.994G>A (p.Val332Ile) rs61735456
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.234+14C>G rs146429523
NM_152419.3(HGSNAT):c.493+13T>A
NM_152419.3(HGSNAT):c.564-4dup
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu) rs200505085
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180
NM_184041.4(ALDOA):c.380-16C>A rs78124282
NM_184043.2(ALDOA):c.1038C>T (p.Ser346=) rs77290575
NM_184043.2(ALDOA):c.249A>G (p.Thr83=) rs76767223
NM_184043.2(ALDOA):c.999+17G>T rs2071390
NM_198709.3(ARSB):c.-310-12dup rs11424557

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