ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3499
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.112956204G>C
NC_000001.11:g.112956208C>T
NC_000001.11:g.112956306C>T
NC_000001.11:g.112956314A>C
NC_000003.12:g.164978889C>T
NC_000003.12:g.58433858A>G rs373907802
NC_000004.12:g.107989730A>G
NC_000004.12:g.107989847G>T
NC_000004.12:g.107989877C>A
NC_000022.11:g.32043044G>A
NM_000027.4(AGA):c.*136T>C
NM_000027.4(AGA):c.*13G>C
NM_000027.4(AGA):c.*207T>C rs546644917
NM_000027.4(AGA):c.*219T>C
NM_000027.4(AGA):c.*220G>C rs12502301
NM_000027.4(AGA):c.*317T>C rs143028069
NM_000027.4(AGA):c.*35G>C
NM_000027.4(AGA):c.*457A>G
NM_000027.4(AGA):c.*48G>A rs752452878
NM_000027.4(AGA):c.*635A>G
NM_000027.4(AGA):c.*680G>A rs886059259
NM_000027.4(AGA):c.*718G>A rs72988642
NM_000027.4(AGA):c.*752G>C rs540646864
NM_000027.4(AGA):c.*819_*820CT[2] rs146345347
NM_000027.4(AGA):c.*850C>T rs149021855
NM_000027.4(AGA):c.*851G>A
NM_000027.4(AGA):c.*852C>T rs182081300
NM_000027.4(AGA):c.*856C>G
NM_000027.4(AGA):c.*868C>G rs886059258
NM_000027.4(AGA):c.*8T>C rs112307209
NM_000027.4(AGA):c.*915G>A
NM_000027.4(AGA):c.*96A>T rs141424240
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)
NM_000027.4(AGA):c.248G>A (p.Gly83Glu)
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.449C>T (p.Ala150Val)
NM_000027.4(AGA):c.535T>C (p.Cys179Arg)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.571G>C (p.Asp191His) rs766110192
NM_000027.4(AGA):c.598G>A (p.Asp200Asn)
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.622+13T>C rs75260482
NM_000027.4(AGA):c.623-13T>G
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.699-7C>T rs886059260
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119
NM_000027.4(AGA):c.92T>C (p.Val31Ala) rs886059263
NM_000027.4(AGA):c.95A>C (p.Asn32Thr) rs886059262
NM_000030.3(AGXT):c.*160G>A rs776483024
NM_000030.3(AGXT):c.*162A>G rs886055844
NM_000030.3(AGXT):c.*194A>T
NM_000030.3(AGXT):c.*285G>A
NM_000030.3(AGXT):c.*52C>G
NM_000030.3(AGXT):c.-14G>A rs376396832
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr)
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp)
NM_000030.3(AGXT):c.1065G>C (p.Thr355=)
NM_000030.3(AGXT):c.1071+12C>T rs375775541
NM_000030.3(AGXT):c.1071+13G>A rs758413374
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188
NM_000030.3(AGXT):c.165+12G>C rs201989825
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu)
NM_000030.3(AGXT):c.214A>C (p.Asn72His)
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)
NM_000030.3(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.40C>T (p.Leu14=)
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu)
NM_000030.3(AGXT):c.510G>A (p.Gly170=)
NM_000030.3(AGXT):c.524+3G>A rs886055839
NM_000030.3(AGXT):c.524+6C>A rs770992934
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143
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.885G>A (p.Ala295=) rs377132245
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys) rs886055841
NM_000030.3(AGXT):c.930C>T (p.Phe310=) rs886055842
NM_000030.3(AGXT):c.942+14T>G rs886055843
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln)
NM_000035.4(ALDOB):c.*1119C>T
NM_000035.4(ALDOB):c.*12C>T rs201867948
NM_000035.4(ALDOB):c.*145A>G
NM_000035.4(ALDOB):c.*150del rs200345626
NM_000035.4(ALDOB):c.*209C>T
NM_000035.4(ALDOB):c.*268T>C rs142431256
NM_000035.4(ALDOB):c.*26C>T
NM_000035.4(ALDOB):c.*286C>T rs886063291
NM_000035.4(ALDOB):c.*289C>G rs886063290
NM_000035.4(ALDOB):c.*503T>C
NM_000035.4(ALDOB):c.*568G>A
NM_000035.4(ALDOB):c.*683T>C
NM_000035.4(ALDOB):c.*714A>G rs886063289
NM_000035.4(ALDOB):c.*729G>C
NM_000035.4(ALDOB):c.*802A>G rs886063288
NM_000035.4(ALDOB):c.*819A>C
NM_000035.4(ALDOB):c.*898T>C rs886063287
NM_000035.4(ALDOB):c.113-7A>C
NM_000035.4(ALDOB):c.127C>T (p.Arg43Cys)
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys)
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.309C>T (p.Ile103=) rs747019279
NM_000035.4(ALDOB):c.344C>T (p.Pro115Leu)
NM_000035.4(ALDOB):c.352G>A (p.Gly118Arg)
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.401G>A (p.Arg134His) rs145252200
NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn)
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr) rs755134927
NM_000035.4(ALDOB):c.529A>G (p.Ile177Val)
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472
NM_000035.4(ALDOB):c.557T>C (p.Ile186Thr)
NM_000035.4(ALDOB):c.680C>A (p.Thr227Asn)
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys) rs777324536
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000035.4(ALDOB):c.94G>C (p.Ala32Pro)
NM_000035.4(ALDOB):c.954T>C (p.Ala318=) rs572044496
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val) rs755508323
NM_000046.3(ARSB):c.-1015A>G rs886060801
NM_000046.3(ARSB):c.-1058A>G rs886060802
NM_000046.3(ARSB):c.-726C>T rs116419942
NM_000046.3(ARSB):c.-848C>T rs571164401
NM_000046.3(ARSB):c.-850dupT rs574333268
NM_000046.5(ARSB):c.*1146G>A
NM_000046.5(ARSB):c.*1147G>A rs886060792
NM_000046.5(ARSB):c.*1153C>A
NM_000046.5(ARSB):c.*1169T>C rs886060791
NM_000046.5(ARSB):c.*1276C>G rs886060790
NM_000046.5(ARSB):c.*1286C>T rs886060789
NM_000046.5(ARSB):c.*1326G>T
NM_000046.5(ARSB):c.*1360T>A rs886060788
NM_000046.5(ARSB):c.*1372dup rs551749278
NM_000046.5(ARSB):c.*1373A>G
NM_000046.5(ARSB):c.*1387C>T rs555581069
NM_000046.5(ARSB):c.*1420G>A
NM_000046.5(ARSB):c.*1499C>G rs886060787
NM_000046.5(ARSB):c.*1513C>T rs886060786
NM_000046.5(ARSB):c.*1539dup rs886060785
NM_000046.5(ARSB):c.*1594C>A
NM_000046.5(ARSB):c.*1610G>A rs867100156
NM_000046.5(ARSB):c.*1635G>A
NM_000046.5(ARSB):c.*166G>A
NM_000046.5(ARSB):c.*1729del rs369595123
NM_000046.5(ARSB):c.*1899dup rs886060784
NM_000046.5(ARSB):c.*1951A>G
NM_000046.5(ARSB):c.*1989C>T rs878926507
NM_000046.5(ARSB):c.*2013G>A rs113059935
NM_000046.5(ARSB):c.*2080G>A rs886060783
NM_000046.5(ARSB):c.*2092A>T
NM_000046.5(ARSB):c.*212A>G rs561718720
NM_000046.5(ARSB):c.*2155C>T
NM_000046.5(ARSB):c.*2158C>T
NM_000046.5(ARSB):c.*2164T>A
NM_000046.5(ARSB):c.*2251G>A
NM_000046.5(ARSB):c.*2287C>T rs886060782
NM_000046.5(ARSB):c.*2408A>G
NM_000046.5(ARSB):c.*2524A>T
NM_000046.5(ARSB):c.*2525A>T
NM_000046.5(ARSB):c.*2526T>A
NM_000046.5(ARSB):c.*2543_*2545dup rs397976147
NM_000046.5(ARSB):c.*2559G>A
NM_000046.5(ARSB):c.*2571A>G
NM_000046.5(ARSB):c.*2578A>T rs548093605
NM_000046.5(ARSB):c.*2593T>G
NM_000046.5(ARSB):c.*2608G>A rs569254528
NM_000046.5(ARSB):c.*2637_*2639dup rs886060781
NM_000046.5(ARSB):c.*2672A>G rs886060780
NM_000046.5(ARSB):c.*2680C>T
NM_000046.5(ARSB):c.*2684G>A
NM_000046.5(ARSB):c.*2707C>T rs183918206
NM_000046.5(ARSB):c.*2708G>A rs141667208
NM_000046.5(ARSB):c.*2784C>A
NM_000046.5(ARSB):c.*2831T>A
NM_000046.5(ARSB):c.*3047T>C rs560253823
NM_000046.5(ARSB):c.*3147G>A
NM_000046.5(ARSB):c.*3152A>G rs886060779
NM_000046.5(ARSB):c.*3163T>C rs886060778
NM_000046.5(ARSB):c.*3174T>G rs886060777
NM_000046.5(ARSB):c.*3181T>A rs11750774
NM_000046.5(ARSB):c.*340A>C
NM_000046.5(ARSB):c.*384T>A
NM_000046.5(ARSB):c.*420A>G
NM_000046.5(ARSB):c.*608G>A rs886060796
NM_000046.5(ARSB):c.*618C>T rs757857543
NM_000046.5(ARSB):c.*619G>T rs886060795
NM_000046.5(ARSB):c.*635C>G rs534480571
NM_000046.5(ARSB):c.*793T>A rs886060794
NM_000046.5(ARSB):c.*810C>T rs777160780
NM_000046.5(ARSB):c.*922C>T
NM_000046.5(ARSB):c.*933C>T
NM_000046.5(ARSB):c.*965A>G
NM_000046.5(ARSB):c.*990C>T rs886060793
NM_000046.5(ARSB):c.*994C>A
NM_000046.5(ARSB):c.-19G>A
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1214-15A>T
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
NM_000046.5(ARSB):c.1231G>A (p.Ala411Thr) rs886060797
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly)
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1453C>G (p.His485Asp) rs751829762
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr)
NM_000046.5(ARSB):c.347C>A (p.Pro116His) rs775780931
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342
NM_000046.5(ARSB):c.790C>A (p.His264Asn) rs558569339
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000108.5(DLD):c.*1027T>G
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1092C>T rs546777301
NM_000108.5(DLD):c.*1145A>T
NM_000108.5(DLD):c.*1231A>G
NM_000108.5(DLD):c.*1307C>T rs568807016
NM_000108.5(DLD):c.*1401G>T
NM_000108.5(DLD):c.*1422C>T
NM_000108.5(DLD):c.*1505C>T
NM_000108.5(DLD):c.*1640A>G
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*1724C>G rs886061913
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1791_*1794del rs760145994
NM_000108.5(DLD):c.*1857A>C rs774099916
NM_000108.5(DLD):c.*1876G>A
NM_000108.5(DLD):c.*1877A>G rs182010485
NM_000108.5(DLD):c.*225C>T rs553824101
NM_000108.5(DLD):c.*355A>G rs886061910
NM_000108.5(DLD):c.*374G>T
NM_000108.5(DLD):c.*394A>G
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*739G>A
NM_000108.5(DLD):c.*845G>A
NM_000108.5(DLD):c.*898C>T
NM_000108.5(DLD):c.-10C>T
NM_000108.5(DLD):c.-8G>T rs372155330
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_000147.4(FUCA1):c.*270T>C rs143441916
NM_000147.4(FUCA1):c.*286C>A rs886046324
NM_000147.4(FUCA1):c.*438_*442del rs886046323
NM_000147.4(FUCA1):c.*527A>G rs886046322
NM_000147.4(FUCA1):c.*544T>A rs886046321
NM_000147.4(FUCA1):c.-44G>A rs139832548
NM_000147.4(FUCA1):c.1119A>G (p.Lys373=) rs370453371
NM_000147.4(FUCA1):c.167C>G (p.Ala56Gly) rs886046325
NM_000147.4(FUCA1):c.30G>C (p.Pro10=) rs886046326
NM_000147.4(FUCA1):c.405G>A (p.Thr135=) rs145153173
NM_000147.4(FUCA1):c.433T>C (p.Trp145Arg) rs150062050
NM_000147.4(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000147.4(FUCA1):c.649G>A (p.Asp217Asn) rs781345107
NM_000147.4(FUCA1):c.825A>T (p.Gly275=) rs199675692
NM_000147.4(FUCA1):c.936G>A (p.Leu312=) rs140932886
NM_000147.5(FUCA1):c.*342C>A
NM_000147.5(FUCA1):c.*97T>C
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)
NM_000147.5(FUCA1):c.1260+7A>C
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)
NM_000147.5(FUCA1):c.389+15G>C
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)
NM_000147.5(FUCA1):c.472G>A (p.Val158Met)
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
NM_000151.4(G6PC1):c.*1039G>T rs549474805
NM_000151.4(G6PC1):c.*103C>T
NM_000151.4(G6PC1):c.*119C>T rs886052957
NM_000151.4(G6PC1):c.*120G>A rs150477898
NM_000151.4(G6PC1):c.*1311G>A
NM_000151.4(G6PC1):c.*1313A>G rs886052962
NM_000151.4(G6PC1):c.*1324C>T rs548787621
NM_000151.4(G6PC1):c.*1400G>A
NM_000151.4(G6PC1):c.*1454C>T rs148453821
NM_000151.4(G6PC1):c.*1458C>T
NM_000151.4(G6PC1):c.*1466T>C
NM_000151.4(G6PC1):c.*1513C>T rs374021788
NM_000151.4(G6PC1):c.*1514G>A
NM_000151.4(G6PC1):c.*1527C>T
NM_000151.4(G6PC1):c.*1550G>T
NM_000151.4(G6PC1):c.*1552A>T rs138968865
NM_000151.4(G6PC1):c.*1640G>T
NM_000151.4(G6PC1):c.*1652C>T rs765883953
NM_000151.4(G6PC1):c.*1671C>T
NM_000151.4(G6PC1):c.*17G>A
NM_000151.4(G6PC1):c.*1901A>G
NM_000151.4(G6PC1):c.*1970A>G rs192778595
NM_000151.4(G6PC1):c.*1981C>T rs573802724
NM_000151.4(G6PC1):c.*1986T>C rs542411157
NM_000151.4(G6PC1):c.*2081T>A
NM_000151.4(G6PC1):c.*211T>C rs886052958
NM_000151.4(G6PC1):c.*2133C>T rs183542930
NM_000151.4(G6PC1):c.*2134G>A rs886052963
NM_000151.4(G6PC1):c.*2184T>A
NM_000151.4(G6PC1):c.*2311C>T rs372226654
NM_000151.4(G6PC1):c.*24A>C rs377739870
NM_000151.4(G6PC1):c.*2501C>G rs886052964
NM_000151.4(G6PC1):c.*2519G>T rs886052965
NM_000151.4(G6PC1):c.*251C>T
NM_000151.4(G6PC1):c.*2611C>T rs186556135
NM_000151.4(G6PC1):c.*2687del rs113390675
NM_000151.4(G6PC1):c.*2800G>A rs886052967
NM_000151.4(G6PC1):c.*2847T>C rs139115520
NM_000151.4(G6PC1):c.*2857C>T
NM_000151.4(G6PC1):c.*286A>G rs886052959
NM_000151.4(G6PC1):c.*2980A>G
NM_000151.4(G6PC1):c.*2981G>T rs886052968
NM_000151.4(G6PC1):c.*492A>C rs532485841
NM_000151.4(G6PC1):c.*556C>T rs533491939
NM_000151.4(G6PC1):c.*607G>A rs886052960
NM_000151.4(G6PC1):c.*680G>A
NM_000151.4(G6PC1):c.*703G>A rs375295552
NM_000151.4(G6PC1):c.*714A>G rs886052961
NM_000151.4(G6PC1):c.*887T>C
NM_000151.4(G6PC1):c.*986A>T rs370935410
NM_000151.4(G6PC1):c.-45G>A rs367816430
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn)
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.230+11T>C
NM_000151.4(G6PC1):c.231-12G>A
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile)
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln) rs886052956
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val)
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn)
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.922G>A (p.Val308Ile) rs774448424
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258
NM_000152.5(GAA):c.*128T>C rs886053549
NM_000152.5(GAA):c.*163G>T
NM_000152.5(GAA):c.*219G>A
NM_000152.5(GAA):c.*264G>A
NM_000152.5(GAA):c.*288G>T rs568131293
NM_000152.5(GAA):c.*309C>T rs886053550
NM_000152.5(GAA):c.*310C>T
NM_000152.5(GAA):c.*313C>G
NM_000152.5(GAA):c.*443G>A rs147801821
NM_000152.5(GAA):c.*521A>G rs142506588
NM_000152.5(GAA):c.*64G>T
NM_000152.5(GAA):c.*66G>A
NM_000152.5(GAA):c.*82C>T
NM_000152.5(GAA):c.*98A>T rs886053548
NM_000152.5(GAA):c.-236C>T rs886053541
NM_000152.5(GAA):c.-312C>T rs574326920
NM_000152.5(GAA):c.-325C>T
NM_000152.5(GAA):c.-62A>C rs367731841
NM_000152.5(GAA):c.1075+12T>G rs370842677
NM_000152.5(GAA):c.1076-15G>C
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.5(GAA):c.1320G>C (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro)
NM_000152.5(GAA):c.1448G>T (p.Gly483Val)
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-14C>T rs199715011
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln) rs886053546
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) rs773667152
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
NM_000152.5(GAA):c.2800-11C>G rs374571499
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.546+3G>A rs371405931
NM_000152.5(GAA):c.54C>T (p.Leu18=) rs886053542
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551
NM_000152.5(GAA):c.630C>T (p.Ser210=)
NM_000152.5(GAA):c.667C>T (p.Arg223Cys) rs886043961
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041
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.840C>G (p.Asn280Lys)
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.955+14C>A rs756921041
NM_000154.2(GALK1):c.*85C>T rs542735255
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000154.2(GALK1):c.-27A>C
NM_000154.2(GALK1):c.-44C>T rs758902207
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys) rs769167240
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser)
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg)
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
NM_000154.2(GALK1):c.165+6G>A rs779996721
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu)
NM_000154.2(GALK1):c.267G>T (p.Gln89His)
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys)
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg)
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys) rs764167059
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp)
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358
NM_000154.2(GALK1):c.786G>A (p.Glu262=) rs756263074
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu)
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp) rs370987432
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.995C>T (p.Ala332Val) rs886053419
NM_000155.4(GALT):c.*105A>G
NM_000155.4(GALT):c.*138C>T
NM_000155.4(GALT):c.*18C>G
NM_000155.4(GALT):c.*8G>A rs370285476
NM_000155.4(GALT):c.*96A>C
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
NM_000155.4(GALT):c.270T>C (p.Asp90=)
NM_000155.4(GALT):c.378-12G>A
NM_000155.4(GALT):c.378-7C>T
NM_000155.4(GALT):c.409G>A (p.Val137Ile)
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.507+12C>T rs199572263
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740
NM_000155.4(GALT):c.687+9G>C rs117998880
NM_000155.4(GALT):c.688-4C>T rs374014228
NM_000155.4(GALT):c.773G>A (p.Arg258His)
NM_000155.4(GALT):c.843G>A (p.Lys281=) rs368298966
NM_000155.4(GALT):c.904+2T>G rs886063885
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983
NM_000155.4(GALT):c.936C>G (p.Asn312Lys)
NM_000158.3(GBE1):c.-195G>T rs886058904
NM_000158.4(GBE1):c.*226T>C
NM_000158.4(GBE1):c.*388T>A
NM_000158.4(GBE1):c.*395A>G rs138608612
NM_000158.4(GBE1):c.*44T>A
NM_000158.4(GBE1):c.*460C>T
NM_000158.4(GBE1):c.*466G>A rs571158601
NM_000158.4(GBE1):c.*468G>A
NM_000158.4(GBE1):c.*494A>C rs145934828
NM_000158.4(GBE1):c.*545G>C
NM_000158.4(GBE1):c.*555G>A rs143820392
NM_000158.4(GBE1):c.*558T>C rs886058899
NM_000158.4(GBE1):c.*598G>C rs886058898
NM_000158.4(GBE1):c.-6C>G
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)
NM_000158.4(GBE1):c.1237-15C>T rs376809475
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.144-7T>C rs886058902
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
NM_000158.4(GBE1):c.23C>T (p.Ala8Val)
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205
NM_000158.4(GBE1):c.313+15G>A rs184391304
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.556-6C>T
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys) rs886058901
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
NM_000158.4(GBE1):c.692-6A>G
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)
NM_000162.5(GCK):c.*11C>T rs200698755
NM_000162.5(GCK):c.*270C>T rs886062348
NM_000162.5(GCK):c.*548G>A rs886062347
NM_000162.5(GCK):c.*678G>T rs555058443
NM_000162.5(GCK):c.*721C>T rs886062346
NM_000162.5(GCK):c.*723A>G rs886062345
NM_000162.5(GCK):c.*764C>T rs185418856
NM_000162.5(GCK):c.*844A>C rs886062344
NM_000162.5(GCK):c.-102G>A rs781377703
NM_000162.5(GCK):c.-102G>C
NM_000162.5(GCK):c.-137C>G
NM_000162.5(GCK):c.-279C>T
NM_000162.5(GCK):c.-396C>G
NM_000162.5(GCK):c.-449G>A
NM_000162.5(GCK):c.-453C>T rs191795044
NM_000162.5(GCK):c.-455A>G
NM_000162.5(GCK):c.-456G>A
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
NM_000162.5(GCK):c.10G>A (p.Asp4Asn)
NM_000162.5(GCK):c.1120G>T (p.Val374Leu)
NM_000162.5(GCK):c.1253+12C>T
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly)
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285
NM_000162.5(GCK):c.363+10G>A rs758495950
NM_000162.5(GCK):c.363+10G>C rs758495950
NM_000162.5(GCK):c.363+9C>T rs200985182
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350
NM_000162.5(GCK):c.435C>G (p.Pro145=)
NM_000162.5(GCK):c.483+3G>A
NM_000162.5(GCK):c.580-11C>T
NM_000162.5(GCK):c.649G>A (p.Asp217Asn)
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318
NM_000162.5(GCK):c.675C>T (p.Ile225=)
NM_000162.5(GCK):c.680-14G>C
NM_000162.5(GCK):c.792C>A (p.Gly264=)
NM_000181.4(GUSB):c.*12A>G
NM_000181.4(GUSB):c.*148A>G
NM_000181.4(GUSB):c.*154G>A
NM_000181.4(GUSB):c.*208T>C rs190201470
NM_000181.4(GUSB):c.*208T>G
NM_000181.4(GUSB):c.*94A>G
NM_000181.4(GUSB):c.-10A>T
NM_000181.4(GUSB):c.-19G>C rs771999951
NM_000181.4(GUSB):c.-20C>T rs577269089
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
NM_000181.4(GUSB):c.1193G>A (p.Arg398His) rs776843811
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala)
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327
NM_000181.4(GUSB):c.1245-4G>A
NM_000181.4(GUSB):c.1245-4G>T
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
NM_000181.4(GUSB):c.1790-18dup rs750022485
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)
NM_000181.4(GUSB):c.210+11G>C rs886062403
NM_000181.4(GUSB):c.211-8C>G rs2293340
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
NM_000181.4(GUSB):c.347G>A (p.Arg116His)
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly)
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000181.4(GUSB):c.531C>A (p.Thr177=)
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652
NM_000199.3(SGSH):c.-23C>T rs533566888
NM_000199.5(SGSH):c.*1008C>T rs886053553
NM_000199.5(SGSH):c.*1078A>G rs886053552
NM_000199.5(SGSH):c.*1098G>A rs886053551
NM_000199.5(SGSH):c.*126G>A rs546128310
NM_000199.5(SGSH):c.*232T>C
NM_000199.5(SGSH):c.*309G>A rs566654466
NM_000199.5(SGSH):c.*369C>T rs886053557
NM_000199.5(SGSH):c.*378G>A
NM_000199.5(SGSH):c.*452G>A rs886053556
NM_000199.5(SGSH):c.*459C>T
NM_000199.5(SGSH):c.*471G>A
NM_000199.5(SGSH):c.*499C>T rs886053555
NM_000199.5(SGSH):c.*501C>T rs377165572
NM_000199.5(SGSH):c.*506C>T
NM_000199.5(SGSH):c.*657C>T
NM_000199.5(SGSH):c.*69C>T rs576879796
NM_000199.5(SGSH):c.*712G>T
NM_000199.5(SGSH):c.*834A>G
NM_000199.5(SGSH):c.*890G>A
NM_000199.5(SGSH):c.*891A>G
NM_000199.5(SGSH):c.*93A>G
NM_000199.5(SGSH):c.*95A>T
NM_000199.5(SGSH):c.*978C>T rs886053554
NM_000199.5(SGSH):c.*994G>A
NM_000199.5(SGSH):c.-12G>A
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser) rs886053559
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn) rs886053558
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln) rs377605690
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp) rs754273400
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys) rs145645179
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038
NM_000199.5(SGSH):c.250-15C>T
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
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.417G>A (p.Thr139=)
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.506+13G>T
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.658G>C (p.Val220Leu)
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.676G>A (p.Val226Ile) rs145967352
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu) rs748671633
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn) rs886053560
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly)
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198
NM_000199.5(SGSH):c.88+8C>T rs75720127
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.*100A>G
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro)
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn) rs886059750
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val)
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
NM_000203.5(IDUA):c.130C>A (p.Arg44=) rs558851990
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.1349C>A (p.Pro450His) rs895626490
NM_000203.5(IDUA):c.1402+8G>A
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu)
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1650+12T>C
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1651-7C>A
NM_000203.5(IDUA):c.1727+9G>T
NM_000203.5(IDUA):c.1728-9C>T rs374775605
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His)
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617
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.248G>A (p.Arg83His) rs141461803
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471
NM_000203.5(IDUA):c.299+7G>A rs200911718
NM_000203.5(IDUA):c.299+8G>A
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466
NM_000203.5(IDUA):c.348G>A (p.Gly116=)
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) rs577729544
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998
NM_000203.5(IDUA):c.44C>T (p.Ala15Val) rs886059749
NM_000203.5(IDUA):c.493+6C>T
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser)
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637
NM_000203.5(IDUA):c.793-10C>G rs886059754
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu) rs536381533
NM_000203.5(IDUA):c.837C>T (p.Val279=)
NM_000203.5(IDUA):c.964G>T (p.Val322Leu)
NM_000262.3(NAGA):c.*107G>A
NM_000262.3(NAGA):c.*1090G>A rs886057594
NM_000262.3(NAGA):c.*1252T>C rs886057593
NM_000262.3(NAGA):c.*1299C>T rs886057592
NM_000262.3(NAGA):c.*1484A>G
NM_000262.3(NAGA):c.*1501C>G rs750373836
NM_000262.3(NAGA):c.*1555C>T
NM_000262.3(NAGA):c.*155A>G rs761125179
NM_000262.3(NAGA):c.*1724C>G
NM_000262.3(NAGA):c.*176C>G rs191051580
NM_000262.3(NAGA):c.*1789del rs10713176
NM_000262.3(NAGA):c.*1862C>A
NM_000262.3(NAGA):c.*268G>A rs886057596
NM_000262.3(NAGA):c.*55C>T
NM_000262.3(NAGA):c.*572G>A
NM_000262.3(NAGA):c.*730T>C
NM_000262.3(NAGA):c.*926C>G rs886057595
NM_000262.3(NAGA):c.-306C>A rs886057598
NM_000262.3(NAGA):c.-43C>T rs753592199
NM_000262.3(NAGA):c.-496G>C rs886057599
NM_000262.3(NAGA):c.-502A>C rs886057600
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) rs778343270
NM_000262.3(NAGA):c.110G>A (p.Arg37His) rs199834981
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) rs886057597
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000262.3(NAGA):c.324C>T (p.Tyr108=)
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000262.3(NAGA):c.486C>G (p.Pro162=)
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089
NM_000262.3(NAGA):c.582C>T (p.Gly194=)
NM_000262.3(NAGA):c.618G>A (p.Ala206=) rs200770245
NM_000262.3(NAGA):c.638G>A (p.Arg213His) rs781499383
NM_000262.3(NAGA):c.697G>A (p.Val233Met)
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys) rs368220690
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281
NM_000263.3(NAGLU):c.-144G>A rs538885425
NM_000263.3(NAGLU):c.-167G>T rs145830042
NM_000263.3(NAGLU):c.-212G>C rs538288877
NM_000263.3(NAGLU):c.-228C>G rs554915381
NM_000263.3(NAGLU):c.-271A>G rs369458319
NM_000263.3(NAGLU):c.-275T>C rs567758523
NM_000263.3(NAGLU):c.-78C>G rs886052951
NM_000263.3(NAGLU):c.-81C>T rs189515084
NM_000263.3(NAGLU):c.-82T>C rs886052950
NM_000263.4(NAGLU):c.*174A>G
NM_000263.4(NAGLU):c.*198del rs747726415
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp) rs200981229
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.1623G>A (p.Arg541=)
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val) rs886052952
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn) rs375068243
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser)
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg)
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192
NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp)
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) rs146456266
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) rs777479452
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000284.4(PDHA1):c.*1297G>A
NM_000284.4(PDHA1):c.*1306G>A
NM_000284.4(PDHA1):c.*1347C>T
NM_000284.4(PDHA1):c.*1376C>T
NM_000284.4(PDHA1):c.*1458C>T
NM_000284.4(PDHA1):c.*1624T>C
NM_000284.4(PDHA1):c.*1779A>T
NM_000284.4(PDHA1):c.*198G>A
NM_000284.4(PDHA1):c.*321C>T
NM_000284.4(PDHA1):c.*349A>G
NM_000284.4(PDHA1):c.*432C>T
NM_000284.4(PDHA1):c.*549A>G
NM_000284.4(PDHA1):c.*575T>C
NM_000284.4(PDHA1):c.*729G>A
NM_000284.4(PDHA1):c.-79C>T
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*3C>T rs367783282
NM_000289.6(PFKM):c.*411G>A
NM_000289.6(PFKM):c.*452T>C
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*532A>G
NM_000289.6(PFKM):c.*564G>A
NM_000289.6(PFKM):c.*622G>A rs568063197
NM_000289.6(PFKM):c.*668G>T
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.-17G>C
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543
NM_000289.6(PFKM):c.638+15C>A rs376150217
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
NM_000290.4(PGAM2):c.*35A>G rs374509693
NM_000290.4(PGAM2):c.-32dup rs554686318
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln)
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) rs140545494
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu) rs151308911
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg)
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) rs528467394
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) rs139561812
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=) rs376134077
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
NM_000290.4(PGAM2):c.459C>T (p.Cys153=) rs143809043
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys)
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu)
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp)
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)
NM_000293.3(PHKB):c.*1000del rs11299370
NM_000293.3(PHKB):c.*1001G>A rs868394484
NM_000293.3(PHKB):c.*1001del rs775113534
NM_000293.3(PHKB):c.*1007G>A
NM_000293.3(PHKB):c.*1105T>C
NM_000293.3(PHKB):c.*1253A>G
NM_000293.3(PHKB):c.*1262A>C rs886052030
NM_000293.3(PHKB):c.*1311dup rs886052031
NM_000293.3(PHKB):c.*132G>A
NM_000293.3(PHKB):c.*1709G>A
NM_000293.3(PHKB):c.*1783A>G rs886052032
NM_000293.3(PHKB):c.*1839C>G
NM_000293.3(PHKB):c.*1915A>G
NM_000293.3(PHKB):c.*2075G>A
NM_000293.3(PHKB):c.*2104T>C rs886052033
NM_000293.3(PHKB):c.*221C>T
NM_000293.3(PHKB):c.*279C>T rs140112731
NM_000293.3(PHKB):c.*323G>C rs886052024
NM_000293.3(PHKB):c.*345C>T rs757393313
NM_000293.3(PHKB):c.*349C>T rs886052025
NM_000293.3(PHKB):c.*358_*360del rs886052026
NM_000293.3(PHKB):c.*405G>T
NM_000293.3(PHKB):c.*523T>C rs886052027
NM_000293.3(PHKB):c.*595G>A rs563945926
NM_000293.3(PHKB):c.*610_*611TA[1] rs201839105
NM_000293.3(PHKB):c.*741G>A
NM_000293.3(PHKB):c.*982del rs886052029
NM_000293.3(PHKB):c.*991A>G
NM_000293.3(PHKB):c.1117A>G (p.Met373Val)
NM_000293.3(PHKB):c.1204+9G>T rs200832185
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln)
NM_000293.3(PHKB):c.1350C>T (p.Ile450=) rs199941695
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr)
NM_000293.3(PHKB):c.1364-10T>C rs199899291
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys) rs201217052
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr) rs147021608
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met)
NM_000293.3(PHKB):c.1631A>G (p.Asn544Ser)
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr) rs886052022
NM_000293.3(PHKB):c.1797+9G>A rs746001808
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val) rs192099645
NM_000293.3(PHKB):c.185T>C (p.Leu62Pro)
NM_000293.3(PHKB):c.1964G>A (p.Arg655His)
NM_000293.3(PHKB):c.1972-7G>A rs765332910
NM_000293.3(PHKB):c.204C>T (p.Thr68=) rs759882590
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser)
NM_000293.3(PHKB):c.2196+14A>G rs751084282
NM_000293.3(PHKB):c.2197-10A>T
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu)
NM_000293.3(PHKB):c.239A>G (p.Gln80Arg) rs886052020
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg) rs150902092
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg) rs886052023
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys)
NM_000293.3(PHKB):c.2832A>G (p.Arg944=)
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile)
NM_000293.3(PHKB):c.305+11G>T rs368293023
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys)
NM_000293.3(PHKB):c.3144+12_3144+13insT rs757614728
NM_000293.3(PHKB):c.3144+12dup rs1555500966
NM_000293.3(PHKB):c.3144+32_3144+34dup rs5816579
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574
NM_000293.3(PHKB):c.370G>C (p.Gly124Arg) rs749597903
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys) rs762531075
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe)
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333
NM_000293.3(PHKB):c.522del (p.Val175fs) rs1242540921
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000293.3(PHKB):c.595-5T>G rs369184808
NM_000293.3(PHKB):c.703C>T (p.His235Tyr) rs886052021
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu)
NM_000293.3(PHKB):c.714G>A (p.Ser238=) rs772326970
NM_000293.3(PHKB):c.716T>C (p.Val239Ala) rs761032231
NM_000293.3(PHKB):c.76+2T>C rs1303617854
NM_000293.3(PHKB):c.77-7del rs754758968
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala) rs137946010
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser)
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)
NM_000293.3(PHKB):c.932T>C (p.Val311Ala) rs149685822
NM_000294.3(PHKG2):c.*1135C>T rs371856479
NM_000294.3(PHKG2):c.*211C>T rs886051915
NM_000294.3(PHKG2):c.*2154G>A rs886051918
NM_000294.3(PHKG2):c.*22C>T
NM_000294.3(PHKG2):c.*2585G>A rs886051920
NM_000294.3(PHKG2):c.*3879A>G rs886051921
NM_000294.3(PHKG2):c.*3988T>C rs886051922
NM_000294.3(PHKG2):c.*47G>A
NM_000294.3(PHKG2):c.*546C>T rs768683366
NM_000294.3(PHKG2):c.*846A>G rs886051917
NM_000294.3(PHKG2):c.-28G>T rs556945561
NM_000294.3(PHKG2):c.-3A>G
NM_000294.3(PHKG2):c.-70C>T rs879456688
NM_000294.3(PHKG2):c.-76G>C
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp)
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=)
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr) rs886051914
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)
NM_000294.3(PHKG2):c.21G>A (p.Pro7=) rs200427925
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) rs538127151
NM_000294.3(PHKG2):c.271+14C>T rs572169140
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513
NM_000294.3(PHKG2):c.318G>T (p.Val106=) rs199743139
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) rs149163610
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949
NM_000294.3(PHKG2):c.448G>A (p.Val150Met) rs886051911
NM_000294.3(PHKG2):c.556+11C>G
NM_000294.3(PHKG2):c.556+4_556+5dup rs767789467
NM_000294.3(PHKG2):c.556+5G>T rs369684098
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr)
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val) rs777228104
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602
NM_000294.3(PHKG2):c.928-9C>G rs886051913
NM_000294.3(PHKG2):c.95+11G>A rs886051910
NM_000294.3(PHKG2):c.96-7C>G
NM_000298.6(PKLR):c.*1041C>T rs528740550
NM_000298.6(PKLR):c.*1067T>C rs559809916
NM_000298.6(PKLR):c.*1105G>A
NM_000298.6(PKLR):c.*1277G>A
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>G
NM_000298.6(PKLR):c.*14C>T rs8177994
NM_000298.6(PKLR):c.*275C>T rs886045350
NM_000298.6(PKLR):c.*342C>T rs879040355
NM_000298.6(PKLR):c.*346_*348del rs556763356
NM_000298.6(PKLR):c.*351T>A rs886045349
NM_000298.6(PKLR):c.*356T>C
NM_000298.6(PKLR):c.*499G>A rs777573500
NM_000298.6(PKLR):c.*500C>T
NM_000298.6(PKLR):c.*582G>A rs758139094
NM_000298.6(PKLR):c.*735A>G
NM_000298.6(PKLR):c.*755T>C
NM_000298.6(PKLR):c.*779C>A rs886045348
NM_000298.6(PKLR):c.*866T>C rs886045347
NM_000298.6(PKLR):c.*893T>G rs41264939
NM_000298.6(PKLR):c.-26C>T rs200181342
NM_000298.6(PKLR):c.-31G>A
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)
NM_000298.6(PKLR):c.1117-13C>T
NM_000298.6(PKLR):c.1117-4C>G
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.6(PKLR):c.284-9T>C rs886045352
NM_000298.6(PKLR):c.376-11C>G
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
NM_000298.6(PKLR):c.507+14C>A
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983
NM_000298.6(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.6(PKLR):c.6G>A (p.Ser2=) rs139697646
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp)
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373
NM_000298.6(PKLR):c.909G>C (p.Pro303=) rs200840994
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.965+12G>A rs200039500
NM_000298.6(PKLR):c.966-12C>T
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)
NM_000298.6(PKLR):c.972T>C (p.Asp324=)
NM_000308.3(CTSA):c.-234C>G rs558829056
NM_000308.3(CTSA):c.-237del rs886056711
NM_000308.3(CTSA):c.-238del rs554760054
NM_000308.3(CTSA):c.-271G>A rs566739434
NM_000308.3(CTSA):c.-292T>C rs554749359
NM_000308.3(CTSA):c.-52G>A rs373024722
NM_000308.3(CTSA):c.108G>C (p.Leu36=) rs181943893
NM_000308.3(CTSA):c.1113G>A (p.Pro371=) rs74694805
NM_000308.3(CTSA):c.1178G>A (p.Arg393Gln) rs370763298
NM_000308.3(CTSA):c.13C>T (p.Pro5Ser) rs765245462
NM_000308.3(CTSA):c.1420G>A (p.Gly474Ser) rs200051553
NM_000308.3(CTSA):c.249-7dup rs780400265
NM_000308.3(CTSA):c.373G>A (p.Gly125Ser) rs886056713
NM_000308.3(CTSA):c.412-5T>G rs375266196
NM_000308.3(CTSA):c.747-3C>T rs773034222
NM_000308.3(CTSA):c.753G>A (p.Trp251Ter) rs766114836
NM_000308.3(CTSA):c.822C>A (p.Cys274Ter) rs767712946
NM_000308.3(CTSA):c.823G>A (p.Val275Met) rs745752655
NM_000308.3(CTSA):c.847C>T (p.Arg283Cys) rs763381306
NM_000308.3(CTSA):c.893C>T (p.Pro298Leu) rs778824488
NM_000308.4(CTSA):c.*50C>T
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu)
NM_000308.4(CTSA):c.1164+7G>A
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr)
NM_000308.4(CTSA):c.574A>C (p.Met192Leu)
NM_000308.4(CTSA):c.692+13G>A
NM_000308.4(CTSA):c.980T>C (p.Met327Thr)
NM_000340.1(SLC2A2):c.-238A>G rs551728717
NM_000340.2(SLC2A2):c.*1004G>A
NM_000340.2(SLC2A2):c.*1086G>A rs185726034
NM_000340.2(SLC2A2):c.*1164T>C rs886058171
NM_000340.2(SLC2A2):c.*11C>G rs761913998
NM_000340.2(SLC2A2):c.*1201T>C
NM_000340.2(SLC2A2):c.*1207G>A
NM_000340.2(SLC2A2):c.*1303T>C
NM_000340.2(SLC2A2):c.*1420T>C
NM_000340.2(SLC2A2):c.*1531A>G
NM_000340.2(SLC2A2):c.*153A>G rs530625053
NM_000340.2(SLC2A2):c.*166G>A
NM_000340.2(SLC2A2):c.*170G>A
NM_000340.2(SLC2A2):c.*254T>G
NM_000340.2(SLC2A2):c.*325del rs886058174
NM_000340.2(SLC2A2):c.*568A>T rs886058173
NM_000340.2(SLC2A2):c.*607del rs563605045
NM_000340.2(SLC2A2):c.*698T>A
NM_000340.2(SLC2A2):c.*726T>C rs886058172
NM_000340.2(SLC2A2):c.*796T>C rs140738490
NM_000340.2(SLC2A2):c.*7_*8dup (p.Ter525=) rs573575421
NM_000340.2(SLC2A2):c.*83A>T
NM_000340.2(SLC2A2):c.*8del (p.Ter525=) rs573575421
NM_000340.2(SLC2A2):c.*94del rs886058175
NM_000340.2(SLC2A2):c.*960T>G
NM_000340.2(SLC2A2):c.-48G>A rs372965718
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr) rs776435170
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del) rs772999215
NM_000340.2(SLC2A2):c.1221T>C (p.Phe407=) rs775605288
NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His) rs75144723
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397
NM_000340.2(SLC2A2):c.15+6G>A rs886058177
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr)
NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys) rs779977931
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401
NM_000340.2(SLC2A2):c.372-4T>C
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=)
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
NM_000340.2(SLC2A2):c.580C>G (p.Leu194Val) rs779065938
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) rs149460434
NM_000340.2(SLC2A2):c.612+10C>A rs762632420
NM_000340.2(SLC2A2):c.639C>T (p.Gly213=) rs886058176
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) rs774721090
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)
NM_000343.3(SLC5A1):c.-120C>T rs886057399
NM_000343.3(SLC5A1):c.-23G>A rs886057400
NM_000343.3(SLC5A1):c.-51G>A rs199663392
NM_000343.3(SLC5A1):c.-60C>T rs200410750
NM_000343.4(SLC5A1):c.*1053G>A rs376345201
NM_000343.4(SLC5A1):c.*1251G>T rs886057411
NM_000343.4(SLC5A1):c.*1312A>G rs768251081
NM_000343.4(SLC5A1):c.*1346A>G rs886057412
NM_000343.4(SLC5A1):c.*1408G>A
NM_000343.4(SLC5A1):c.*1522T>G
NM_000343.4(SLC5A1):c.*1559C>T rs372572143
NM_000343.4(SLC5A1):c.*155C>T rs886057405
NM_000343.4(SLC5A1):c.*1595A>C
NM_000343.4(SLC5A1):c.*1744G>A rs376602365
NM_000343.4(SLC5A1):c.*1755T>G rs886057413
NM_000343.4(SLC5A1):c.*183G>C rs886057406
NM_000343.4(SLC5A1):c.*1842C>T
NM_000343.4(SLC5A1):c.*1995T>C
NM_000343.4(SLC5A1):c.*2132C>A rs541518106
NM_000343.4(SLC5A1):c.*2201G>A
NM_000343.4(SLC5A1):c.*2251G>A
NM_000343.4(SLC5A1):c.*2352A>T
NM_000343.4(SLC5A1):c.*2411C>G
NM_000343.4(SLC5A1):c.*2612T>C
NM_000343.4(SLC5A1):c.*2694A>G
NM_000343.4(SLC5A1):c.*334G>A
NM_000343.4(SLC5A1):c.*451A>G
NM_000343.4(SLC5A1):c.*510G>A rs886057408
NM_000343.4(SLC5A1):c.*599C>T
NM_000343.4(SLC5A1):c.*636A>G
NM_000343.4(SLC5A1):c.*638T>C
NM_000343.4(SLC5A1):c.*649G>A rs544819758
NM_000343.4(SLC5A1):c.*703C>T rs576036983
NM_000343.4(SLC5A1):c.*707G>A rs886057409
NM_000343.4(SLC5A1):c.*715del rs777276040
NM_000343.4(SLC5A1):c.-11dup rs541991193
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val) rs201216997
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr) rs774741107
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp) rs200834101
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=)
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr)
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) rs200206252
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val)
NM_000343.4(SLC5A1):c.1280+8C>G
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg) rs886057402
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys)
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg) rs886057403
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) rs33975915
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu)
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=) rs368853644
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala)
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr) rs201862174
NM_000343.4(SLC5A1):c.1772-5C>A rs886057404
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=) rs200228396
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser) rs200684333
NM_000343.4(SLC5A1):c.208-13T>A rs200261297
NM_000343.4(SLC5A1):c.312+3G>A rs200776237
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=) rs376255565
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=) rs144581584
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu) rs150117594
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile) rs777779839
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=) rs200849778
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) rs139037092
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp)
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
NM_000352.5(ABCC8):c.2041-12C>T rs201419039
NM_000352.5(ABCC8):c.2256-3C>T rs756328102
NM_000352.5(ABCC8):c.2256-9C>T rs886048052
NM_000352.5(ABCC8):c.2694+15G>A rs886048051
NM_000352.5(ABCC8):c.3399+13G>A rs182340196
NM_000352.5(ABCC8):c.3558-6C>G rs886048050
NM_000352.5(ABCC8):c.3558-8C>T rs544550330
NM_000352.5(ABCC8):c.3867+7G>A rs372198547
NM_000352.5(ABCC8):c.4119+15C>T rs58368439
NM_000352.5(ABCC8):c.413-15A>G rs758744263
NM_000352.5(ABCC8):c.4199-8C>T rs886048048
NM_000352.5(ABCC8):c.4307+13A>C rs886048047
NM_000352.6(ABCC8):c.*93T>A rs886048046
NM_000352.6(ABCC8):c.-8G>T rs200091822
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=)
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val)
NM_000352.6(ABCC8):c.148+3G>A
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054
NM_000352.6(ABCC8):c.1630+8C>T
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_000352.6(ABCC8):c.1924-9C>T
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met) rs150316347
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=)
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=) rs780868010
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=) rs771538281
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158
NM_000352.6(ABCC8):c.3650+4C>G
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp)
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile)
NM_000352.6(ABCC8):c.3989-10C>T rs373737642
NM_000352.6(ABCC8):c.3989-3C>G rs1324242791
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) rs373478721
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val)
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901
NM_000352.6(ABCC8):c.4545+9T>C
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560
NM_000352.6(ABCC8):c.486C>T (p.Ile162=) rs149872185
NM_000352.6(ABCC8):c.507C>T (p.Phe169=)
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu) rs368894930
NM_000352.6(ABCC8):c.580-7C>A
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn)
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)
NM_000352.6(ABCC8):c.621C>T (p.Pro207=)
NM_000352.6(ABCC8):c.723C>T (p.His241=)
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr)
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val)
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp) rs773087569
NM_000352.6(ABCC8):c.933G>C (p.Leu311=)
NM_000365.6(TPI1):c.*134C>A
NM_000365.6(TPI1):c.*173G>A
NM_000365.6(TPI1):c.*219C>T
NM_000365.6(TPI1):c.*239C>T rs886049811
NM_000365.6(TPI1):c.*253G>T
NM_000365.6(TPI1):c.*260G>A rs782764628
NM_000365.6(TPI1):c.*520T>C
NM_000365.6(TPI1):c.*541dup rs201871949
NM_000365.6(TPI1):c.*542_*544del rs782559646
NM_000365.6(TPI1):c.*69C>T rs782061169
NM_000365.6(TPI1):c.-11G>A rs199634350
NM_000365.6(TPI1):c.-29C>T rs181882616
NM_000365.6(TPI1):c.192G>A (p.Ala64=)
NM_000365.6(TPI1):c.1A>G (p.Met1Val)
NM_000365.6(TPI1):c.239+8C>A rs782359362
NM_000365.6(TPI1):c.261C>T (p.Cys87=) rs370863694
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849
NM_000365.6(TPI1):c.543+5C>G rs782153322
NM_000365.6(TPI1):c.543+6C>T rs369693539
NM_000365.6(TPI1):c.558C>T (p.His186=)
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000404.4(GLB1):c.*194C>A rs886058340
NM_000404.4(GLB1):c.*224G>T
NM_000404.4(GLB1):c.*319G>A rs139730198
NM_000404.4(GLB1):c.*39C>T
NM_000404.4(GLB1):c.*423A>G rs79603348
NM_000404.4(GLB1):c.*44C>T
NM_000404.4(GLB1):c.-17C>T
NM_000404.4(GLB1):c.-25C>G rs368944274
NM_000404.4(GLB1):c.-35T>G rs886058344
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127
NM_000404.4(GLB1):c.1069-4A>G
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
NM_000404.4(GLB1):c.1234-11T>A rs145674318
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.4(GLB1):c.1347+10G>A rs199538100
NM_000404.4(GLB1):c.1348-7C>T
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264
NM_000404.4(GLB1):c.1479+11C>T
NM_000404.4(GLB1):c.1480-8C>G rs753129246
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met) rs1803198
NM_000404.4(GLB1):c.1530G>A (p.Thr510=) rs191203702
NM_000404.4(GLB1):c.1562G>A (p.Cys521Tyr)
NM_000404.4(GLB1):c.1568A>G (p.His523Arg)
NM_000404.4(GLB1):c.1601A>G (p.His534Arg) rs770982909
NM_000404.4(GLB1):c.1603C>G (p.His535Asp) rs886058341
NM_000404.4(GLB1):c.1735-15TC[7] rs745361874
NM_000404.4(GLB1):c.2016A>G (p.Ser672=) rs756403702
NM_000404.4(GLB1):c.234C>T (p.Asn78=) rs368796666
NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys)
NM_000404.4(GLB1):c.376A>G (p.Ile126Val) rs886058343
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr) rs772539129
NM_000404.4(GLB1):c.534G>A (p.Gly178=) rs928862880
NM_000404.4(GLB1):c.553-8A>G rs886058342
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys)
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
NM_000411.8(HLCS):c.-393+7C>T rs886057081
NM_000434.3(NEU1):c.-49C>T rs374172739
NM_000434.4(NEU1):c.*180G>A
NM_000434.4(NEU1):c.*269C>T rs886061288
NM_000434.4(NEU1):c.*294G>A
NM_000434.4(NEU1):c.*454A>G rs886061287
NM_000434.4(NEU1):c.*524C>T rs886061286
NM_000434.4(NEU1):c.*596G>T rs749671704
NM_000434.4(NEU1):c.*644A>G
NM_000434.4(NEU1):c.*69G>A
NM_000434.4(NEU1):c.-13G>A rs886061291
NM_000434.4(NEU1):c.-42T>C
NM_000434.4(NEU1):c.1089A>G (p.Leu363=)
NM_000434.4(NEU1):c.1107C>A (p.Gly369=) rs150864071
NM_000434.4(NEU1):c.1170C>T (p.Tyr390=)
NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp)
NM_000434.4(NEU1):c.1217T>A (p.Val406Glu)
NM_000434.4(NEU1):c.122C>A (p.Ala41Glu) rs886061290
NM_000434.4(NEU1):c.249A>C (p.Thr83=)
NM_000434.4(NEU1):c.402C>T (p.Pro134=) rs142833447
NM_000434.4(NEU1):c.408G>A (p.Gly136=) rs41267074
NM_000434.4(NEU1):c.432C>T (p.Ser144=) rs114405905
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) rs768711214
NM_000434.4(NEU1):c.474T>G (p.Cys158Trp) rs886061289
NM_000434.4(NEU1):c.742G>A (p.Gly248Ser)
NM_000434.4(NEU1):c.799-4T>C rs759065536
NM_000434.4(NEU1):c.826G>A (p.Val276Ile)
NM_000434.4(NEU1):c.888T>C (p.Tyr296=) rs754422982
NM_000507.4(FBP1):c.*121T>G
NM_000507.4(FBP1):c.*127C>T
NM_000507.4(FBP1):c.*152C>T
NM_000507.4(FBP1):c.-130C>A
NM_000507.4(FBP1):c.-154C>G rs28382860
NM_000507.4(FBP1):c.-18G>T
NM_000507.4(FBP1):c.-208C>G rs759920853
NM_000507.4(FBP1):c.-54C>A rs1057515690
NM_000507.4(FBP1):c.-59A>T rs913996916
NM_000507.4(FBP1):c.102G>C (p.Leu34=) rs143832764
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu) rs759615686
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe)
NM_000507.4(FBP1):c.237C>T (p.Asn79=) rs201591116
NM_000507.4(FBP1):c.275C>T (p.Thr92Met) rs141270413
NM_000507.4(FBP1):c.334-15T>C rs370920869
NM_000507.4(FBP1):c.397G>A (p.Val133Ile)
NM_000507.4(FBP1):c.443C>A (p.Pro148His)
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys)
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr)
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp)
NM_000507.4(FBP1):c.670G>A (p.Val224Ile) rs140222720
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu) rs2297085
NM_000507.4(FBP1):c.705A>G (p.Pro235=) rs112446147
NM_000507.4(FBP1):c.721T>C (p.Tyr241His)
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln) rs775808681
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)
NM_000507.4(FBP1):c.826-15G>A rs148942437
NM_000507.4(FBP1):c.826-15G>T rs148942437
NM_000507.4(FBP1):c.826-7T>C
NM_000507.4(FBP1):c.835C>T (p.Leu279=)
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala) rs758841300
NM_000507.4(FBP1):c.906C>T (p.Ala302=) rs28369776
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn) rs201508880
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys)
NM_000512.5(GALNS):c.*123G>C rs886052453
NM_000512.5(GALNS):c.*140C>A
NM_000512.5(GALNS):c.*144T>C
NM_000512.5(GALNS):c.*145C>T rs539285988
NM_000512.5(GALNS):c.*186C>G
NM_000512.5(GALNS):c.*197C>T
NM_000512.5(GALNS):c.*207G>T rs886052452
NM_000512.5(GALNS):c.*20C>G rs886052454
NM_000512.5(GALNS):c.*212C>A
NM_000512.5(GALNS):c.*236C>T rs189375208
NM_000512.5(GALNS):c.*261T>G
NM_000512.5(GALNS):c.*263T>C rs886052451
NM_000512.5(GALNS):c.*270T>C
NM_000512.5(GALNS):c.*287T>C rs776880179
NM_000512.5(GALNS):c.*29A>C
NM_000512.5(GALNS):c.*387T>G
NM_000512.5(GALNS):c.*3C>G rs77826920
NM_000512.5(GALNS):c.*503T>G rs573836350
NM_000512.5(GALNS):c.*520C>A
NM_000512.5(GALNS):c.*523G>A
NM_000512.5(GALNS):c.*573A>G rs551511278
NM_000512.5(GALNS):c.*610G>T rs755706847
NM_000512.5(GALNS):c.*639T>G
NM_000512.5(GALNS):c.*656T>C
NM_000512.5(GALNS):c.*70T>C
NM_000512.5(GALNS):c.*86C>T
NM_000512.5(GALNS):c.*95T>A rs536448022
NM_000512.5(GALNS):c.-10C>G rs781533703
NM_000512.5(GALNS):c.-54G>A rs369448232
NM_000512.5(GALNS):c.-58C>A
NM_000512.5(GALNS):c.-58C>G
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898
NM_000512.5(GALNS):c.1003-10T>C rs753249472
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn)
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe)
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp)
NM_000512.5(GALNS):c.1140-15C>T
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975
NM_000512.5(GALNS):c.121-4G>A rs200008960
NM_000512.5(GALNS):c.1242+3A>G rs377067312
NM_000512.5(GALNS):c.1243-10C>G rs886052455
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
NM_000512.5(GALNS):c.1482+4A>G
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val)
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627
NM_000512.5(GALNS):c.400G>A (p.Val134Ile) rs886052457
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr) rs763093375
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622
NM_000512.5(GALNS):c.952A>T (p.Met318Leu)
NM_000512.5(GALNS):c.97A>G (p.Ile33Val)
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
NM_000525.3(KCNJ11):c.*1055T>A rs886048032
NM_000525.3(KCNJ11):c.*1168G>A rs182349583
NM_000525.3(KCNJ11):c.*1197G>A rs191682072
NM_000525.3(KCNJ11):c.*1562A>G rs886048031
NM_000525.3(KCNJ11):c.*218G>T rs886048039
NM_000525.3(KCNJ11):c.*288G>A rs5209
NM_000525.3(KCNJ11):c.*311C>T rs886048038
NM_000525.3(KCNJ11):c.*376C>T rs5208
NM_000525.3(KCNJ11):c.*40C>T rs746850899
NM_000525.3(KCNJ11):c.*487A>G rs79457490
NM_000525.3(KCNJ11):c.*50G>A rs886048041
NM_000525.3(KCNJ11):c.*529G>A rs115826080
NM_000525.3(KCNJ11):c.*546G>A rs886048037
NM_000525.3(KCNJ11):c.*678C>T rs886048036
NM_000525.3(KCNJ11):c.*686A>G rs147282653
NM_000525.3(KCNJ11):c.*697G>A rs117976105
NM_000525.3(KCNJ11):c.*701A>T rs5207
NM_000525.3(KCNJ11):c.*732C>T rs886048035
NM_000525.3(KCNJ11):c.*76G>A rs193076739
NM_000525.3(KCNJ11):c.*862G>T rs547635594
NM_000525.3(KCNJ11):c.*92C>T rs5212
NM_000525.3(KCNJ11):c.*937C>T rs886048033
NM_000525.3(KCNJ11):c.*99C>G rs886048040
NM_000525.3(KCNJ11):c.-150G>A rs886048043
NM_000525.3(KCNJ11):c.-154G>T rs539975714
NM_000525.3(KCNJ11):c.-179C>T rs776949660
NM_000525.3(KCNJ11):c.-498T>C rs529946415
NM_000525.3(KCNJ11):c.-515G>A rs886048044
NM_000525.3(KCNJ11):c.-546G>T rs886048045
NM_000525.3(KCNJ11):c.-559G>C rs547932593
NM_000525.3(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135
NM_000525.3(KCNJ11):c.1040G>A (p.Arg347His) rs771797701
NM_000525.3(KCNJ11):c.1064T>C (p.Leu355Pro) rs797045635
NM_000525.3(KCNJ11):c.108G>A (p.Val36=) rs112070496
NM_000525.3(KCNJ11):c.1095C>T (p.Arg365=) rs143276279
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000525.3(KCNJ11):c.525C>A (p.His175Gln) rs865963367
NM_000525.3(KCNJ11):c.741C>T (p.Asn247=) rs886048042
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.819C>T (p.Ser273=) rs202238153
NM_000525.3(KCNJ11):c.843C>T (p.Leu281=) rs116392938
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576
NM_000525.4(KCNJ11):c.*1037G>T
NM_000525.4(KCNJ11):c.*1220G>A
NM_000525.4(KCNJ11):c.*1415G>A
NM_000525.4(KCNJ11):c.*766G>A
NM_000525.4(KCNJ11):c.*842C>G
NM_000525.4(KCNJ11):c.*848A>G
NM_000525.4(KCNJ11):c.*849C>G
NM_000525.4(KCNJ11):c.-37C>T
NM_000525.4(KCNJ11):c.-424C>T
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=)
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=)
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met)
NM_000525.4(KCNJ11):c.804C>T rs778225010
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp)
NM_000528.4(MAN2B1):c.*100T>G rs886054227
NM_000528.4(MAN2B1):c.*105C>G rs547349667
NM_000528.4(MAN2B1):c.*41C>T
NM_000528.4(MAN2B1):c.*91C>T
NM_000528.4(MAN2B1):c.-19A>G rs886054234
NM_000528.4(MAN2B1):c.1026+8C>T
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
NM_000528.4(MAN2B1):c.1110-15C>G
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=) rs886054231
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=) rs745391577
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716
NM_000528.4(MAN2B1):c.1231-13C>T
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1419+5G>T
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser)
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met)
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro)
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys)
NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=)
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn)
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2267+3dup rs572289342
NM_000528.4(MAN2B1):c.2268-11C>T
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro)
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp)
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val) rs886054229
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=) rs372896479
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys) rs142248782
NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg)
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=)
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr)
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797
NM_000528.4(MAN2B1):c.630+6A>T
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=)
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=) rs886054232
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587
NM_000642.2(AGL):c.-134C>G rs548243205
NM_000642.2(AGL):c.-208C>T rs563389574
NM_000642.3(AGL):c.*1047A>T rs886044930
NM_000642.3(AGL):c.*105T>C rs886044924
NM_000642.3(AGL):c.*1075T>A rs886044931
NM_000642.3(AGL):c.*1103A>G
NM_000642.3(AGL):c.*1224C>T
NM_000642.3(AGL):c.*1256A>C rs886044932
NM_000642.3(AGL):c.*1359A>G
NM_000642.3(AGL):c.*1558T>C
NM_000642.3(AGL):c.*1610T>C
NM_000642.3(AGL):c.*1691A>G rs886044933
NM_000642.3(AGL):c.*1720A>C
NM_000642.3(AGL):c.*1766G>A
NM_000642.3(AGL):c.*1817G>A
NM_000642.3(AGL):c.*1860G>T
NM_000642.3(AGL):c.*1952C>T rs886044934
NM_000642.3(AGL):c.*1971T>C
NM_000642.3(AGL):c.*1T>A
NM_000642.3(AGL):c.*2058G>A
NM_000642.3(AGL):c.*2060T>C
NM_000642.3(AGL):c.*2160C>T rs753401733
NM_000642.3(AGL):c.*229A>G
NM_000642.3(AGL):c.*257C>A
NM_000642.3(AGL):c.*292A>G rs541731841
NM_000642.3(AGL):c.*395C>T rs886044925
NM_000642.3(AGL):c.*400T>C
NM_000642.3(AGL):c.*562del rs886044926
NM_000642.3(AGL):c.*564T>C rs552782825
NM_000642.3(AGL):c.*595A>G
NM_000642.3(AGL):c.*604A>G
NM_000642.3(AGL):c.*615A>G
NM_000642.3(AGL):c.*670A>G rs886044927
NM_000642.3(AGL):c.*680T>A rs886044928
NM_000642.3(AGL):c.*682A>G
NM_000642.3(AGL):c.*698A>G
NM_000642.3(AGL):c.*794A>G rs886044929
NM_000642.3(AGL):c.*832G>A rs181486858
NM_000642.3(AGL):c.*83C>G
NM_000642.3(AGL):c.*99del rs886044923
NM_000642.3(AGL):c.-104C>T
NM_000642.3(AGL):c.-69+1G>C rs1413359590
NM_000642.3(AGL):c.-82A>G
NM_000642.3(AGL):c.-95A>G
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) rs140872573
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174
NM_000642.3(AGL):c.1284-12A>C rs886044918
NM_000642.3(AGL):c.1284-4A>T
NM_000642.3(AGL):c.1326A>G (p.Glu442=) rs886044919
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.1794A>G (p.Gly598=)
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) rs188519129
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) rs778021848
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2682-7T>C rs375256646
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006
NM_000642.3(AGL):c.2905T>C (p.Tyr969His)
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg)
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3569C>G (p.Pro1190Arg)
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543
NM_000642.3(AGL):c.3589-14T>G rs886044920
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe) rs772976797
NM_000642.3(AGL):c.4232C>T (p.Pro1411Leu)
NM_000642.3(AGL):c.4256del (p.Pro1419fs) rs1557792839
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159
NM_000642.3(AGL):c.4348-3dup rs886044921
NM_000642.3(AGL):c.4362T>C (p.Pro1454=) rs886044922
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308
NM_000642.3(AGL):c.515G>C (p.Cys172Ser) rs766234642
NM_000642.3(AGL):c.573G>C (p.Lys191Asn)
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
NM_000642.3(AGL):c.82+4A>C rs765098686
NM_000642.3(AGL):c.846+14G>A rs376827010
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) rs886044917
NM_000642.3(AGL):c.958+12A>G
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527
NM_000925.4(PDHB):c.*160A>G
NM_000925.4(PDHB):c.*173C>T
NM_000925.4(PDHB):c.*199T>G rs886058777
NM_000925.4(PDHB):c.*328A>G
NM_000925.4(PDHB):c.*360A>G rs886058776
NM_000925.4(PDHB):c.*365T>A
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.*77C>T
NM_000925.4(PDHB):c.-12G>A
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.4(PDHB):c.45C>G (p.Val15=)
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) rs752056463
NM_000925.4(PDHB):c.701-3C>T rs377063331
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+12G>A
NM_001008216.2(GALE):c.*12T>G
NM_001008216.2(GALE):c.*158G>A
NM_001008216.2(GALE):c.*178G>A
NM_001008216.2(GALE):c.*192T>C rs576468712
NM_001008216.2(GALE):c.*326_*328dup rs557214506
NM_001008216.2(GALE):c.*327A>T rs535702110
NM_001008216.2(GALE):c.*69G>A
NM_001008216.2(GALE):c.-77+168T>G
NM_001008216.2(GALE):c.-77+205C>G
NM_001008216.2(GALE):c.-77+340G>C rs568182391
NM_001008216.2(GALE):c.192G>A (p.Glu64=)
NM_001008216.2(GALE):c.238-6C>T
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536
NM_001008216.2(GALE):c.319G>A (p.Val107Ile)
NM_001008216.2(GALE):c.330C>T (p.Thr110=) rs377557637
NM_001008216.2(GALE):c.369G>A (p.Gly123=) rs138148991
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp)
NM_001008216.2(GALE):c.423C>T (p.Tyr141=) rs138518245
NM_001008216.2(GALE):c.447C>G (p.Pro149=) rs571625657
NM_001008216.2(GALE):c.450G>A (p.Thr150=) rs566884215
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602
NM_001008216.2(GALE):c.529-12C>T
NM_001008216.2(GALE):c.647C>T (p.Ala216Val) rs542192037
NM_001008216.2(GALE):c.648G>A (p.Ala216=) rs144723215
NM_001008216.2(GALE):c.873+13_873+14insA rs765063773
NM_001008216.2(GALE):c.874-9G>A
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys) rs780393850
NM_001008216.2(GALE):c.955G>C (p.Gly319Arg) rs752384408
NM_001008216.2(GALE):c.988+7G>A rs200182186
NM_001008216.2(GALE):c.989-13C>T
NM_001008216.2(GALE):c.997C>A (p.Leu333Ile)
NM_001014436.3(DBNL):c.*4668T>G rs528717273
NM_001040716.2(PC):c.*101G>A
NM_001040716.2(PC):c.*15G>A rs45501894
NM_001040716.2(PC):c.*161C>T rs886048554
NM_001040716.2(PC):c.*164dup rs762257488
NM_001040716.2(PC):c.*185G>A rs573667993
NM_001040716.2(PC):c.*188G>A
NM_001040716.2(PC):c.*203T>C rs886048553
NM_001040716.2(PC):c.*353A>G rs557595819
NM_001040716.2(PC):c.*373C>T rs189863040
NM_001040716.2(PC):c.*43C>T rs751861809
NM_001040716.2(PC):c.*88G>A
NM_001040716.2(PC):c.*89G>A
NM_001040716.2(PC):c.-272G>A
NM_001040716.2(PC):c.-282G>A rs886048558
NM_001040716.2(PC):c.1023-14C>A rs111858832
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1233C>T (p.Ser411=) rs747247743
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
NM_001040716.2(PC):c.1368+11G>A rs371731636
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535
NM_001040716.2(PC):c.1513+13del rs755170894
NM_001040716.2(PC):c.1513+14C>T
NM_001040716.2(PC):c.1513+6G>A
NM_001040716.2(PC):c.1514-13G>A
NM_001040716.2(PC):c.1514-6C>T rs745563711
NM_001040716.2(PC):c.1530C>T (p.Asn510=) rs755162836
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) rs370248734
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu) rs886048556
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.2019C>A (p.Val673=)
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)
NM_001040716.2(PC):c.2224-14C>T
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn)
NM_001040716.2(PC):c.2292C>G (p.Pro764=) rs757918962
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp) rs886048555
NM_001040716.2(PC):c.2719-5_2719-3del rs566558597
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) rs139540331
NM_001040716.2(PC):c.2899-9G>A rs372755874
NM_001040716.2(PC):c.3004G>A (p.Val1002Met)
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842
NM_001040716.2(PC):c.3148-14C>T
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
NM_001040716.2(PC):c.3288+5T>C
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494
NM_001040716.2(PC):c.3364G>C (p.Asp1122His)
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698
NM_001040716.2(PC):c.3483T>C (p.His1161=) rs190223302
NM_001040716.2(PC):c.3531C>T (p.Ile1177=) rs144982348
NM_001040716.2(PC):c.486G>A (p.Ala162=) rs142416378
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454
NM_001040716.2(PC):c.543C>T (p.His181=) rs139717038
NM_001040716.2(PC):c.563G>T (p.Gly188Val)
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506
NM_001040716.2(PC):c.64G>A (p.Ala22Thr)
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312
NM_001040716.2(PC):c.751+13G>A
NM_001040716.2(PC):c.75C>T (p.Ala25=) rs886048557
NM_001040716.2(PC):c.78C>A (p.Ser26=)
NM_001040716.2(PC):c.841G>A (p.Ala281Thr)
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332
NM_001040716.2(PC):c.904-11C>T
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650
NM_001041.4(SI):c.*121C>T
NM_001041.4(SI):c.*151A>G
NM_001041.4(SI):c.*217A>C rs577252976
NM_001041.4(SI):c.*229T>C rs886058140
NM_001041.4(SI):c.1-15C>A rs201424057
NM_001041.4(SI):c.1043C>T (p.Pro348Leu) rs77546399
NM_001041.4(SI):c.1106A>G (p.Lys369Arg) rs756534501
NM_001041.4(SI):c.1111G>A (p.Val371Met) rs138434001
NM_001041.4(SI):c.1147-13T>A
NM_001041.4(SI):c.1147-6T>A
NM_001041.4(SI):c.118+10A>G rs200646132
NM_001041.4(SI):c.118+11C>T
NM_001041.4(SI):c.1212G>A (p.Ala404=) rs142838612
NM_001041.4(SI):c.123T>C (p.Ile41=)
NM_001041.4(SI):c.1278+11A>G
NM_001041.4(SI):c.1311T>C (p.Asn437=) rs886058149
NM_001041.4(SI):c.1380T>C (p.Ser460=) rs886058148
NM_001041.4(SI):c.1398+12T>C rs115295826
NM_001041.4(SI):c.1544G>T (p.Gly515Val)
NM_001041.4(SI):c.1616T>C (p.Met539Thr) rs749835475
NM_001041.4(SI):c.1654T>C (p.Trp552Arg)
NM_001041.4(SI):c.16T>C (p.Phe6Leu) rs886058151
NM_001041.4(SI):c.1715+14C>A rs867982218
NM_001041.4(SI):c.1715+8C>A rs373673328
NM_001041.4(SI):c.1716-13G>A rs112259253
NM_001041.4(SI):c.1796C>T (p.Ala599Val) rs747388124
NM_001041.4(SI):c.1910T>G (p.Phe637Cys) rs886058147
NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs) rs967166732
NM_001041.4(SI):c.1919A>G (p.Glu640Gly)
NM_001041.4(SI):c.2159+12G>A rs376831754
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
NM_001041.4(SI):c.2381G>T (p.Gly794Val) rs886058146
NM_001041.4(SI):c.2395A>G (p.Ile799Val) rs150246328
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419
NM_001041.4(SI):c.2428C>A (p.Arg810Ser)
NM_001041.4(SI):c.2510C>T (p.Thr837Ile)
NM_001041.4(SI):c.2566-11A>G rs747570138
NM_001041.4(SI):c.2599T>C (p.Tyr867His) rs140230726
NM_001041.4(SI):c.2678C>T (p.Ala893Val)
NM_001041.4(SI):c.2681A>G (p.Glu894Gly)
NM_001041.4(SI):c.2737-23_2737-22dup rs11452619
NM_001041.4(SI):c.2737-8del rs886058145
NM_001041.4(SI):c.2738T>C (p.Val913Ala)
NM_001041.4(SI):c.2772A>G (p.Gly924=)
NM_001041.4(SI):c.2789A>G (p.Gln930Arg) rs150927256
NM_001041.4(SI):c.2859A>G (p.Gln953=)
NM_001041.4(SI):c.2892G>A (p.Thr964=) rs145486890
NM_001041.4(SI):c.2923T>C (p.Tyr975His) rs146785675
NM_001041.4(SI):c.2966G>A (p.Arg989His)
NM_001041.4(SI):c.2985A>G (p.Ile995Met)
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys) rs756776020
NM_001041.4(SI):c.315G>T (p.Trp105Cys)
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001041.4(SI):c.3197A>G (p.Glu1066Gly) rs760887527
NM_001041.4(SI):c.3234G>A (p.Arg1078=)
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn) rs376341511
NM_001041.4(SI):c.3309G>A (p.Ser1103=)
NM_001041.4(SI):c.3331A>G (p.Ile1111Val)
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser) rs138927818
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala)
NM_001041.4(SI):c.3423+11A>G rs770815174
NM_001041.4(SI):c.3424-12T>C rs77749967
NM_001041.4(SI):c.3540T>C (p.Thr1180=) rs759754319
NM_001041.4(SI):c.3557G>T (p.Arg1186Leu)
NM_001041.4(SI):c.3729T>C (p.Tyr1243=)
NM_001041.4(SI):c.373+11C>T
NM_001041.4(SI):c.3760-7A>G rs367956129
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn) rs149783130
NM_001041.4(SI):c.3790G>A (p.Glu1264Lys) rs886058144
NM_001041.4(SI):c.3836C>T (p.Pro1279Leu) rs886058143
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)
NM_001041.4(SI):c.3995C>A (p.Ala1332Glu) rs747041492
NM_001041.4(SI):c.4014G>A (p.Leu1338=)
NM_001041.4(SI):c.4062+11C>T rs747768310
NM_001041.4(SI):c.4077T>C (p.His1359=) rs886058142
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292
NM_001041.4(SI):c.4191G>A (p.Glu1397=) rs886058141
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu) rs574552408
NM_001041.4(SI):c.4209T>C (p.Asn1403=) rs113826825
NM_001041.4(SI):c.4239C>T (p.Asp1413=) rs138374817
NM_001041.4(SI):c.4267+9T>C
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr)
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919
NM_001041.4(SI):c.4458G>A (p.Thr1486=) rs140287192
NM_001041.4(SI):c.453A>G (p.Gln151=)
NM_001041.4(SI):c.4540+4A>G
NM_001041.4(SI):c.4692+12C>T rs199581970
NM_001041.4(SI):c.4772C>A (p.Pro1591His)
NM_001041.4(SI):c.4793A>T (p.His1598Leu) rs562705407
NM_001041.4(SI):c.483+8T>G
NM_001041.4(SI):c.4841+15T>A
NM_001041.4(SI):c.4849G>C (p.Asp1617His)
NM_001041.4(SI):c.4873T>G (p.Phe1625Val) rs149414344
NM_001041.4(SI):c.4950C>T (p.Tyr1650=)
NM_001041.4(SI):c.4951G>A (p.Val1651Ile) rs139876383
NM_001041.4(SI):c.5108+13T>C rs535082142
NM_001041.4(SI):c.5109-3T>C
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter) rs779803851
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)
NM_001041.4(SI):c.5301G>A (p.Thr1767=)
NM_001041.4(SI):c.5304G>A (p.Arg1768=)
NM_001041.4(SI):c.5319T>C (p.His1773=)
NM_001041.4(SI):c.5320G>A (p.Val1774Ile)
NM_001041.4(SI):c.5367T>C (p.Tyr1789=) rs144206255
NM_001041.4(SI):c.5403C>T (p.Asp1801=)
NM_001041.4(SI):c.556T>C (p.Ser186Pro) rs142447888
NM_001041.4(SI):c.59T>A (p.Val20Asp)
NM_001041.4(SI):c.611T>C (p.Ile204Thr)
NM_001041.4(SI):c.627T>C (p.Gly209=) rs370540330
NM_001041.4(SI):c.635+3A>G rs879204269
NM_001041.4(SI):c.636-14C>T
NM_001041.4(SI):c.636-14_636-10del rs886058150
NM_001041.4(SI):c.639T>C (p.Phe213=) rs368517998
NM_001041.4(SI):c.748C>T (p.Arg250Cys) rs200745562
NM_001041.4(SI):c.749G>A (p.Arg250His)
NM_001041.4(SI):c.780T>G (p.Ile260Met)
NM_001041.4(SI):c.801T>C (p.Pro267=)
NM_001041.4(SI):c.808-14T>A rs762854920
NM_001041.4(SI):c.825C>T (p.Tyr275=)
NM_001041.4(SI):c.952G>A (p.Gly318Ser) rs749095854
NM_001041.4(SI):c.963G>A (p.Leu321=)
NM_001042351.3(G6PD):c.-23G>A
NM_001042351.3(G6PD):c.-9+14C>G
NM_001122606.1(LAMP2):c.*1924A>T rs761928368
NM_001122606.1(LAMP2):c.*2019A>G rs943561186
NM_001122606.1(LAMP2):c.*2122A>G rs765371462
NM_001122606.1(LAMP2):c.*2124del rs754879365
NM_001122606.1(LAMP2):c.*2333A>G rs778592348
NM_001122606.1(LAMP2):c.*508_*511GTTA[1] rs764018077
NM_001122606.1(LAMP2):c.*838C>A rs1057515737
NM_001122606.1(LAMP2):c.*850T>C rs975386272
NM_001122606.1(LAMP2):c.1094-1025C>T rs1024440041
NM_001122606.1(LAMP2):c.1094-1065A>G rs755434692
NM_001122606.1(LAMP2):c.1094-1506A>T rs1004327482
NM_001122606.1(LAMP2):c.1094-159A>C rs1057515739
NM_001122606.1(LAMP2):c.1094-1844G>A rs763861761
NM_001122606.1(LAMP2):c.1094-1976A>C rs887326511
NM_001122606.1(LAMP2):c.1094-2005G>A rs1057515743
NM_001122606.1(LAMP2):c.1094-2044A>G rs1057515744
NM_001122606.1(LAMP2):c.1094-2111A>G rs41312757
NM_001122606.1(LAMP2):c.1094-549AT[8] rs753399289
NM_001122606.1(LAMP2):c.1133T>A (p.Ile378Asn) rs1057515738
NM_001127628.1(FBP1):c.-24-321C>G rs28382859
NM_001127628.2(FBP1):c.-24-191G>C rs987543611
NM_001127628.2(FBP1):c.-24-195C>T rs1057515693
NM_001127628.2(FBP1):c.-24-214G>A rs974736435
NM_001127628.2(FBP1):c.-24-222G>T rs921192380
NM_001135024.1(PDHX):c.115+15G>A rs886048246
NM_001135024.1(PDHX):c.115+8C>A
NM_001135024.1(PDHX):c.14G>T (p.Gly5Val) rs780153979
NM_001135602.2(GLB1):c.-73C>T rs530326876
NM_001164277.1(SLC37A4):c.*138C>T rs867580827
NM_001164277.1(SLC37A4):c.*139G>T rs886047747
NM_001164277.1(SLC37A4):c.*204C>T
NM_001164277.1(SLC37A4):c.*263T>C
NM_001164277.1(SLC37A4):c.*283T>C rs886047746
NM_001164277.1(SLC37A4):c.*298C>T rs886047745
NM_001164277.1(SLC37A4):c.*31C>T rs564775174
NM_001164277.1(SLC37A4):c.*338T>C
NM_001164277.1(SLC37A4):c.*360C>G rs886047744
NM_001164277.1(SLC37A4):c.*5A>C rs373050741
NM_001164277.1(SLC37A4):c.-108G>A rs536032716
NM_001164277.1(SLC37A4):c.-183C>T rs145369754
NM_001164277.1(SLC37A4):c.-195-11G>T rs886047751
NM_001164277.1(SLC37A4):c.-217G>A rs527772065
NM_001164277.1(SLC37A4):c.-279C>T rs886047752
NM_001164277.1(SLC37A4):c.-384G>A rs886047753
NM_001164277.1(SLC37A4):c.-439T>C
NM_001164277.1(SLC37A4):c.-50T>G rs886047750
NM_001164277.1(SLC37A4):c.-573C>G rs550169691
NM_001164277.1(SLC37A4):c.-594A>T
NM_001164277.1(SLC37A4):c.-64C>T rs150026242
NM_001164277.1(SLC37A4):c.-670C>T rs886047754
NM_001164277.1(SLC37A4):c.-700+9C>T rs534659292
NM_001164277.1(SLC37A4):c.-99A>G
NM_001164277.1(SLC37A4):c.1119C>T (p.Ala373=) rs886047749
NM_001164277.1(SLC37A4):c.148+7C>T
NM_001164277.1(SLC37A4):c.274A>G (p.Ile92Val)
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.339C>T (p.Ala113=)
NM_001164277.1(SLC37A4):c.377G>A (p.Arg126Gln) rs78735156
NM_001164277.1(SLC37A4):c.382-6C>A rs756248657
NM_001164277.1(SLC37A4):c.390G>C (p.Glu130Asp)
NM_001164277.1(SLC37A4):c.45A>G (p.Ser15=)
NM_001164277.1(SLC37A4):c.465G>C (p.Leu155=) rs776272750
NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) rs201036248
NM_001164277.1(SLC37A4):c.492C>T (p.Ser164=) rs369399624
NM_001164277.1(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128
NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001164716.1(PYGM):c.-146C>A rs764403406
NM_001164716.1(PYGM):c.-234C>T rs886048466
NM_001164716.1(PYGM):c.-556C>G rs886048467
NM_001164716.1(PYGM):c.-668C>T rs886048468
NM_001164716.1(PYGM):c.-724C>G rs754685048
NM_001164716.1(PYGM):c.-789T>C rs143460923
NM_001166686.2(PFKM):c.206-3416C>T rs886049452
NM_001166686.2(PFKM):c.206-3526G>A rs765876195
NM_001166686.2(PFKM):c.206-3528C>T rs886049451
NM_001166686.2(PFKM):c.206-3529G>C rs78512814
NM_001171988.1(AGA):c.-126_-122del rs886059265
NM_001171988.1(AGA):c.-94G>A rs886059264
NM_001172432.1(PHKG2):c.-106G>A rs879382458
NM_001172432.1(PHKG2):c.-118G>A
NM_001172432.1(PHKG2):c.-162C>T
NM_001173498.1(MAN2B1):c.-73G>T rs544325509
NM_001184705.2(HADH):c.-102G>A rs182097151
NM_001184705.2(HADH):c.-195A>C rs886058979
NM_001184705.2(HADH):c.-195A>G rs886058979
NM_001243177.4(ALDOA):c.541+17del rs886051891
NM_001258332.1(GALT):c.-240G>A rs886063883
NM_001258332.1(GALT):c.-290G>A
NM_001287174.2(ABCC8):c.291-3C>T rs764107333
NM_001352514.2(HLCS):c.*1071G>A
NM_001352514.2(HLCS):c.*1084C>T rs530869762
NM_001352514.2(HLCS):c.*1085G>A
NM_001352514.2(HLCS):c.*1089G>A rs146991267
NM_001352514.2(HLCS):c.*1094T>C
NM_001352514.2(HLCS):c.*1097G>A rs886057070
NM_001352514.2(HLCS):c.*1273T>A rs565500474
NM_001352514.2(HLCS):c.*14C>T
NM_001352514.2(HLCS):c.*1581T>C rs886057069
NM_001352514.2(HLCS):c.*1594A>G rs776064678
NM_001352514.2(HLCS):c.*1614dup rs886057068
NM_001352514.2(HLCS):c.*168G>T
NM_001352514.2(HLCS):c.*1756C>T rs748180401
NM_001352514.2(HLCS):c.*1761_*1762del rs886057067
NM_001352514.2(HLCS):c.*1766G>A
NM_001352514.2(HLCS):c.*1827C>A rs768653798
NM_001352514.2(HLCS):c.*1852G>T rs551457805
NM_001352514.2(HLCS):c.*1856T>C rs151042283
NM_001352514.2(HLCS):c.*1953A>G
NM_001352514.2(HLCS):c.*1997G>A rs886057066
NM_001352514.2(HLCS):c.*2023G>A rs886057065
NM_001352514.2(HLCS):c.*2069T>C
NM_001352514.2(HLCS):c.*2163A>G rs139776215
NM_001352514.2(HLCS):c.*2243C>T rs554230015
NM_001352514.2(HLCS):c.*2267G>T rs886057064
NM_001352514.2(HLCS):c.*2285G>A rs886057063
NM_001352514.2(HLCS):c.*2416C>T
NM_001352514.2(HLCS):c.*2434G>T rs886057062
NM_001352514.2(HLCS):c.*2444C>T
NM_001352514.2(HLCS):c.*2541C>T rs184935954
NM_001352514.2(HLCS):c.*2545C>A rs180866987
NM_001352514.2(HLCS):c.*2555T>C
NM_001352514.2(HLCS):c.*2647T>A
NM_001352514.2(HLCS):c.*2700C>T
NM_001352514.2(HLCS):c.*270dup rs886057074
NM_001352514.2(HLCS):c.*2771C>T
NM_001352514.2(HLCS):c.*2814C>T rs146199781
NM_001352514.2(HLCS):c.*2847G>A
NM_001352514.2(HLCS):c.*2921A>G
NM_001352514.2(HLCS):c.*2945C>T rs71332549
NM_001352514.2(HLCS):c.*2952_*2953CT[1] rs886057061
NM_001352514.2(HLCS):c.*3043A>G
NM_001352514.2(HLCS):c.*3050A>G
NM_001352514.2(HLCS):c.*305T>C
NM_001352514.2(HLCS):c.*3156A>G
NM_001352514.2(HLCS):c.*3159_*3162del rs535525635
NM_001352514.2(HLCS):c.*3161G>T rs886057060
NM_001352514.2(HLCS):c.*3162T>A
NM_001352514.2(HLCS):c.*3162T>C
NM_001352514.2(HLCS):c.*3175A>G
NM_001352514.2(HLCS):c.*3209C>T rs886057059
NM_001352514.2(HLCS):c.*3226del rs35955622
NM_001352514.2(HLCS):c.*3226dup rs35955622
NM_001352514.2(HLCS):c.*3253C>T
NM_001352514.2(HLCS):c.*334A>G rs886057073
NM_001352514.2(HLCS):c.*430T>C
NM_001352514.2(HLCS):c.*448G>C
NM_001352514.2(HLCS):c.*490C>T rs376741921
NM_001352514.2(HLCS):c.*590A>G rs148195019
NM_001352514.2(HLCS):c.*779A>T rs886057072
NM_001352514.2(HLCS):c.*985C>A rs886057071
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala)
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys)
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1621-12T>C rs367728041
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln) rs886057076
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) rs886057075
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly) rs886057080
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met) rs191115811
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile)
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=)
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.294A>C (p.Gln98His) rs751729789
NM_001352514.2(HLCS):c.331-7076C>T rs541806392
NM_001352514.2(HLCS):c.331-7170T>A rs181989786
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys) rs148981273
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met) rs886057079
NM_001352514.2(HLCS):c.493+9C>A rs886057078
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001352514.2(HLCS):c.494-9A>G rs376397597
NM_001352514.2(HLCS):c.500A>G (p.His167Arg) rs577182758
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys)
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn) rs148426470
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001360016.2(G6PD):c.*25C>T rs781866772
NM_001360016.2(G6PD):c.*281C>T
NM_001360016.2(G6PD):c.*365G>A rs1034742794
NM_001360016.2(G6PD):c.*466C>G
NM_001360016.2(G6PD):c.*520G>A rs782764609
NM_001360016.2(G6PD):c.*535G>T rs1057515820
NM_001360016.2(G6PD):c.*548C>T
NM_001360016.2(G6PD):c.*599C>T
NM_001360016.2(G6PD):c.*75C>T
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178
NM_001360016.2(G6PD):c.1051+15C>A
NM_001360016.2(G6PD):c.1101C>T (p.Ala367=)
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=) rs782623392
NM_001360016.2(G6PD):c.120+7A>C rs369904290
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His) rs201794043
NM_001360016.2(G6PD):c.1287+3G>C
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys)
NM_001360016.2(G6PD):c.297G>A (p.Glu99=)
NM_001360016.2(G6PD):c.485+13G>A rs781898381
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) rs145247580
NM_001360016.2(G6PD):c.645-12C>T
NM_001360016.2(G6PD):c.750C>T (p.Phe250=)
NM_001360016.2(G6PD):c.771-11T>C rs782622284
NM_001360016.2(G6PD):c.864+14C>T rs782416820
NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr)
NM_001365304.1(LOC112694756):c.*1006A>G rs886051892
NM_001365304.1(LOC112694756):c.*1257G>A rs886051893
NM_001365304.1(LOC112694756):c.*1415C>T rs200761497
NM_001365304.1(LOC112694756):c.*1454C>T rs142315181
NM_001365304.1(LOC112694756):c.*1467A>T rs886051894
NM_001365304.1(LOC112694756):c.*1481G>A rs530089317
NM_001365304.1(LOC112694756):c.*1548G>A rs138824667
NM_001365304.1(LOC112694756):c.*566C>T rs773402743
NM_001365304.1(LOC112694756):c.*570C>T rs766734350
NM_001365304.1(LOC112694756):c.*573C>T rs145582724
NM_001365304.1(LOC112694756):c.*659G>A rs779556052
NM_001365304.1(LOC112694756):c.*711G>C rs201468609
NM_001365304.1(LOC112694756):c.*784G>A rs747482925
NM_001365304.1(LOC112694756):c.*986C>G rs758499704
NM_001370658.1(BTD):c.*211G>A rs78601074
NM_001370658.1(BTD):c.*57T>A rs886058118
NM_001370658.1(BTD):c.-105C>T rs184480128
NM_001370658.1(BTD):c.-148C>T rs774964227
NM_001370658.1(BTD):c.-65G>T rs199516128
NM_001370658.1(BTD):c.-87G>T rs755119589
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu) rs375239909
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) rs747489101
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.847C>T (p.His283Tyr) rs144084212
NM_001467.6(SLC37A4):c.-196+522del rs754442670
NM_001931.5(DLAT):c.396dup (p.Ala133fs) rs782173047
NM_002076.3(GNS):c.-161T>C rs769119181
NM_002076.3(GNS):c.-168dupC rs145477737
NM_002076.4(GNS):c.*1435G>A
NM_002076.4(GNS):c.*152G>A rs768957003
NM_002076.4(GNS):c.*1580A>G rs886049764
NM_002076.4(GNS):c.*1681C>G rs142676698
NM_002076.4(GNS):c.*1759A>G rs540594590
NM_002076.4(GNS):c.*1809T>C
NM_002076.4(GNS):c.*1861del rs3832839
NM_002076.4(GNS):c.*1977A>G
NM_002076.4(GNS):c.*2032T>A rs886049763
NM_002076.4(GNS):c.*2099G>A
NM_002076.4(GNS):c.*2146G>A
NM_002076.4(GNS):c.*2278A>C
NM_002076.4(GNS):c.*2301G>A
NM_002076.4(GNS):c.*2406A>G
NM_002076.4(GNS):c.*2447G>A rs567930294
NM_002076.4(GNS):c.*2489T>C
NM_002076.4(GNS):c.*2560T>G rs886049762
NM_002076.4(GNS):c.*2571T>C
NM_002076.4(GNS):c.*2612G>T
NM_002076.4(GNS):c.*2625G>A
NM_002076.4(GNS):c.*2656G>A rs577212739
NM_002076.4(GNS):c.*2699G>C rs867153534
NM_002076.4(GNS):c.*2735C>T rs143396704
NM_002076.4(GNS):c.*2740G>A rs886049761
NM_002076.4(GNS):c.*2783C>T rs573404754
NM_002076.4(GNS):c.*2787del rs886049760
NM_002076.4(GNS):c.*2843C>T rs577545481
NM_002076.4(GNS):c.*2844G>A
NM_002076.4(GNS):c.*319C>T rs368523842
NM_002076.4(GNS):c.*334C>T rs886049771
NM_002076.4(GNS):c.*357T>C rs554471490
NM_002076.4(GNS):c.*37G>T rs142001509
NM_002076.4(GNS):c.*425G>A rs141736156
NM_002076.4(GNS):c.*574G>A rs886049770
NM_002076.4(GNS):c.*676A>G rs886049769
NM_002076.4(GNS):c.*699G>C
NM_002076.4(GNS):c.*71T>C
NM_002076.4(GNS):c.*734A>G rs886049768
NM_002076.4(GNS):c.*764G>A rs886049767
NM_002076.4(GNS):c.*826G>A rs886049766
NM_002076.4(GNS):c.*846C>T rs886049765
NM_002076.4(GNS):c.*86A>T
NM_002076.4(GNS):c.*985A>G rs531715804
NM_002076.4(GNS):c.-120A>G rs778270030
NM_002076.4(GNS):c.-39_-35TCCCG[4] rs559286032
NM_002076.4(GNS):c.-83G>C
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn) rs138335335
NM_002076.4(GNS):c.1261C>T (p.Arg421Cys)
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901
NM_002076.4(GNS):c.1616G>A (p.Arg539His)
NM_002076.4(GNS):c.16C>G (p.Leu6Val)
NM_002076.4(GNS):c.229A>G (p.Met77Val)
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198
NM_002076.4(GNS):c.337A>G (p.Thr113Ala) rs886049772
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755
NM_002076.4(GNS):c.5G>C (p.Arg2Pro)
NM_002076.4(GNS):c.624+10A>G rs757526895
NM_002076.4(GNS):c.73G>A (p.Ala25Thr) rs540537083
NM_002076.4(GNS):c.876-13T>C
NM_002076.4(GNS):c.939T>G (p.Thr313=)
NM_002103.4(GYS1):c.-199T>C rs770497351
NM_002103.5(GYS1):c.*1044T>G rs886054564
NM_002103.5(GYS1):c.*110G>A
NM_002103.5(GYS1):c.*1113_*1116del rs148396922
NM_002103.5(GYS1):c.*143C>G
NM_002103.5(GYS1):c.*229C>T
NM_002103.5(GYS1):c.*26G>A rs886054567
NM_002103.5(GYS1):c.*301G>A rs147489255
NM_002103.5(GYS1):c.*357G>A
NM_002103.5(GYS1):c.*370A>C rs185366453
NM_002103.5(GYS1):c.*395C>T
NM_002103.5(GYS1):c.*413G>A
NM_002103.5(GYS1):c.*465G>A
NM_002103.5(GYS1):c.*472G>A rs886054566
NM_002103.5(GYS1):c.*59A>T
NM_002103.5(GYS1):c.*659C>T rs367578611
NM_002103.5(GYS1):c.*78C>T rs749720376
NM_002103.5(GYS1):c.*824del rs886054565
NM_002103.5(GYS1):c.*868A>G rs571576339
NM_002103.5(GYS1):c.*969C>T
NM_002103.5(GYS1):c.-157C>T rs748554746
NM_002103.5(GYS1):c.-171A>T
NM_002103.5(GYS1):c.-172T>C rs886054574
NM_002103.5(GYS1):c.-195T>A
NM_002103.5(GYS1):c.-26C>T rs202114467
NM_002103.5(GYS1):c.1020C>T (p.Asp340=)
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile) rs751121252
NM_002103.5(GYS1):c.1077G>A (p.Glu359=) rs756998086
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys)
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) rs200672892
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp) rs886054571
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys)
NM_002103.5(GYS1):c.1169+13C>T
NM_002103.5(GYS1):c.1170-13C>T rs886054570
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) rs573897595
NM_002103.5(GYS1):c.1278T>G (p.Thr426=)
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)
NM_002103.5(GYS1):c.1305G>A (p.Thr435=) rs147610727
NM_002103.5(GYS1):c.1308+5G>A rs779587345
NM_002103.5(GYS1):c.1332C>T (p.Cys444=) rs377125421
NM_002103.5(GYS1):c.1338C>T (p.His446=)
NM_002103.5(GYS1):c.1377C>T (p.Thr459=)
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg)
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002103.5(GYS1):c.1810-14C>T
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213
NM_002103.5(GYS1):c.1872G>A (p.Glu624=)
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu) rs886054569
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp) rs886054568
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr)
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986
NM_002103.5(GYS1):c.222G>A (p.Arg74=) rs748174034
NM_002103.5(GYS1):c.235C>T (p.Leu79=) rs886054573
NM_002103.5(GYS1):c.300G>A (p.Lys100=) rs886054572
NM_002103.5(GYS1):c.303G>A (p.Val101=)
NM_002103.5(GYS1):c.417C>T (p.Ile139=) rs758550328
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly)
NM_002103.5(GYS1):c.652G>A (p.Val218Met)
NM_002103.5(GYS1):c.741G>A (p.Ala247=) rs3745692
NM_002103.5(GYS1):c.803A>T (p.His268Leu)
NM_002103.5(GYS1):c.942-9G>A rs762629200
NM_002294.3(LAMP2):c.*1413A>G
NM_002294.3(LAMP2):c.*2147T>C
NM_002294.3(LAMP2):c.*238G>A
NM_002294.3(LAMP2):c.*2476C>T
NM_002294.3(LAMP2):c.*2955A>G
NM_002294.3(LAMP2):c.*3263T>C
NM_002294.3(LAMP2):c.*3276C>T
NM_002294.3(LAMP2):c.*3413T>C
NM_002294.3(LAMP2):c.*3488C>T
NM_002294.3(LAMP2):c.*3563T>G
NM_002294.3(LAMP2):c.*4004C>T
NM_002294.3(LAMP2):c.*4006G>T
NM_002294.3(LAMP2):c.*4664A>G
NM_002294.3(LAMP2):c.*4757A>G
NM_002294.3(LAMP2):c.*975A>G
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys)
NM_002299.4(LCT):c.*10A>C rs200994158
NM_002299.4(LCT):c.*193C>T
NM_002299.4(LCT):c.*230T>C rs749324196
NM_002299.4(LCT):c.*239C>T
NM_002299.4(LCT):c.*251G>A rs886054860
NM_002299.4(LCT):c.*275A>G
NM_002299.4(LCT):c.*325G>C rs62170085
NM_002299.4(LCT):c.1004C>G (p.Thr335Ser)
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) rs886054868
NM_002299.4(LCT):c.1113G>A (p.Arg371=) rs148142216
NM_002299.4(LCT):c.1116G>A (p.Ala372=)
NM_002299.4(LCT):c.122A>C (p.His41Pro)
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) rs377102890
NM_002299.4(LCT):c.1461G>A (p.Ala487=) rs146206234
NM_002299.4(LCT):c.1539G>A (p.Glu513=)
NM_002299.4(LCT):c.1780C>G (p.Gln594Glu) rs886054867
NM_002299.4(LCT):c.1902C>T (p.Pro634=) rs202014246
NM_002299.4(LCT):c.1931C>T (p.Thr644Ile)
NM_002299.4(LCT):c.2177G>A (p.Arg726His) rs886054866
NM_002299.4(LCT):c.21A>G (p.Val7=)
NM_002299.4(LCT):c.2293C>A (p.Leu765Ile)
NM_002299.4(LCT):c.2310A>C (p.Leu770Phe)
NM_002299.4(LCT):c.2349C>T (p.Leu783=)
NM_002299.4(LCT):c.2457C>T (p.His819=) rs149425549
NM_002299.4(LCT):c.2618C>T (p.Pro873Leu)
NM_002299.4(LCT):c.2718C>T (p.Asp906=)
NM_002299.4(LCT):c.2760C>T (p.Gly920=) rs200579267
NM_002299.4(LCT):c.2763G>A (p.Ala921=) rs116951780
NM_002299.4(LCT):c.280G>A (p.Ala94Thr)
NM_002299.4(LCT):c.2819G>A (p.Gly940Glu)
NM_002299.4(LCT):c.2883C>T (p.Ala961=) rs140994860
NM_002299.4(LCT):c.2898C>A (p.Leu966=)
NM_002299.4(LCT):c.2969G>T (p.Ser990Ile)
NM_002299.4(LCT):c.2983C>T (p.His995Tyr)
NM_002299.4(LCT):c.3006G>A (p.Arg1002=) rs114815229
NM_002299.4(LCT):c.30T>C (p.Ile10=)
NM_002299.4(LCT):c.319G>A (p.Glu107Lys) rs761296720
NM_002299.4(LCT):c.3285C>T (p.His1095=) rs372534937
NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr) rs146467199
NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg) rs148838160
NM_002299.4(LCT):c.3390G>A (p.Glu1130=) rs886054865
NM_002299.4(LCT):c.3450C>T (p.Ser1150=)
NM_002299.4(LCT):c.3483C>T (p.Asn1161=)
NM_002299.4(LCT):c.3532C>T (p.Leu1178=) rs886054864
NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr) rs886054863
NM_002299.4(LCT):c.3599C>T (p.Thr1200Met) rs148317168
NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala)
NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys)
NM_002299.4(LCT):c.3759G>A (p.Thr1253=) rs764860323
NM_002299.4(LCT):c.3804C>A (p.Pro1268=)
NM_002299.4(LCT):c.3848C>T (p.Thr1283Met) rs147755711
NM_002299.4(LCT):c.3986C>T (p.Thr1329Met) rs555708380
NM_002299.4(LCT):c.4026G>A (p.Thr1342=) rs150640616
NM_002299.4(LCT):c.4122C>T (p.Tyr1374=) rs557321611
NM_002299.4(LCT):c.4173+5G>A
NM_002299.4(LCT):c.4173+6_4173+8del rs375300532
NM_002299.4(LCT):c.4224G>A (p.Thr1408=)
NM_002299.4(LCT):c.4239A>G (p.Pro1413=) rs752925060
NM_002299.4(LCT):c.4347T>C (p.Phe1449=) rs17699796
NM_002299.4(LCT):c.4362T>G (p.Ser1454=)
NM_002299.4(LCT):c.4404G>A (p.Ala1468=)
NM_002299.4(LCT):c.4434T>C (p.Asp1478=) rs778761405
NM_002299.4(LCT):c.4447G>T (p.Ala1483Ser)
NM_002299.4(LCT):c.4576C>T (p.Leu1526=) rs140074771
NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys) rs147495948
NM_002299.4(LCT):c.4664-10A>G
NM_002299.4(LCT):c.4695C>T (p.Tyr1565=) rs886054862
NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu)
NM_002299.4(LCT):c.4760G>A (p.Arg1587His) rs146614143
NM_002299.4(LCT):c.4761C>T (p.Arg1587=)
NM_002299.4(LCT):c.4776C>T (p.Gly1592=)
NM_002299.4(LCT):c.4922T>C (p.Val1641Ala) rs557029000
NM_002299.4(LCT):c.5335+5G>A
NM_002299.4(LCT):c.5391T>C (p.Asn1797=)
NM_002299.4(LCT):c.5493C>T (p.Tyr1831=) rs369410973
NM_002299.4(LCT):c.54G>C (p.Trp18Cys) rs886054870
NM_002299.4(LCT):c.5529C>T (p.Pro1843=) rs761696901
NM_002299.4(LCT):c.5563+7T>C
NM_002299.4(LCT):c.5655C>T (p.Tyr1885=)
NM_002299.4(LCT):c.5656G>A (p.Val1886Ile) rs376732886
NM_002299.4(LCT):c.5771T>C (p.Val1924Ala) rs886054861
NM_002299.4(LCT):c.621C>T (p.His207=) rs369174474
NM_002299.4(LCT):c.643G>A (p.Gly215Arg) rs886054869
NM_002299.4(LCT):c.677T>C (p.Ile226Thr)
NM_002299.4(LCT):c.725C>T (p.Thr242Met)
NM_002299.4(LCT):c.840C>T (p.Asn280=)
NM_002299.4(LCT):c.89C>T (p.Ser30Phe)
NM_002300.7(LDHB):c.*73T>C rs886049163
NM_002300.7(LDHB):c.-102C>A rs542962114
NM_002300.7(LDHB):c.-109C>T rs886049167
NM_002300.7(LDHB):c.129+11A>G rs886049166
NM_002300.7(LDHB):c.375C>T (p.Ile125=) rs141707607
NM_002300.7(LDHB):c.421+7T>C rs375249355
NM_002300.7(LDHB):c.422-10A>G rs886049165
NM_002300.7(LDHB):c.528T>A (p.Ala176=) rs886049164
NM_002300.7(LDHB):c.585C>T (p.Gly195=) rs141629567
NM_002300.7(LDHB):c.621G>T (p.Val207=) rs147896432
NM_002300.7(LDHB):c.719A>G (p.Tyr240Cys) rs369382991
NM_002300.7(LDHB):c.727A>G (p.Ile243Val) rs750220072
NM_002300.7(LDHB):c.749A>G (p.Asn250Ser) rs144739734
NM_002300.7(LDHB):c.946C>T (p.Gln316Ter) rs1565623986
NM_002300.8(LDHB):c.-34A>G
NM_002300.8(LDHB):c.-71C>G
NM_002300.8(LDHB):c.130-8G>A
NM_002300.8(LDHB):c.178A>G (p.Lys60Glu)
NM_002300.8(LDHB):c.210C>A (p.Ser70Arg)
NM_002300.8(LDHB):c.523A>G (p.Met175Val)
NM_002300.8(LDHB):c.767G>A (p.Ser256Asn)
NM_002300.8(LDHB):c.782T>C (p.Ile261Thr)
NM_002300.8(LDHB):c.826A>G (p.Thr276Ala)
NM_002300.8(LDHB):c.843G>A (p.Met281Ile)
NM_002591.4(PCK1):c.*202G>A rs886056795
NM_002591.4(PCK1):c.*249G>T rs886056796
NM_002591.4(PCK1):c.*349_*350AT[6] rs201179319
NM_002591.4(PCK1):c.*357A>G
NM_002591.4(PCK1):c.*357_*360del rs147972610
NM_002591.4(PCK1):c.*357_*362del rs760440639
NM_002591.4(PCK1):c.*358_*359TG[14] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[15] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[16] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[17] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[19] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[20] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[21] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[24] rs141075201
NM_002591.4(PCK1):c.*361G>A rs878859807
NM_002591.4(PCK1):c.*363G>A
NM_002591.4(PCK1):c.*365G>A rs886056802
NM_002591.4(PCK1):c.*392T>C
NM_002591.4(PCK1):c.*528C>G rs886056803
NM_002591.4(PCK1):c.*608A>C
NM_002591.4(PCK1):c.*92C>T rs17847706
NM_002591.4(PCK1):c.-3G>A
NM_002591.4(PCK1):c.-40-12T>C
NM_002591.4(PCK1):c.-40-14G>A
NM_002591.4(PCK1):c.-54C>T rs886056794
NM_002591.4(PCK1):c.-64C>T rs886056793
NM_002591.4(PCK1):c.102C>T (p.Asn34=) rs200771350
NM_002591.4(PCK1):c.1152G>A (p.Thr384=) rs141878699
NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp) rs368426390
NM_002591.4(PCK1):c.1211C>T (p.Ser404Leu)
NM_002591.4(PCK1):c.1320T>C (p.Gly440=)
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr) rs202197769
NM_002591.4(PCK1):c.141C>T (p.Asp47=) rs45559338
NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln) rs41302559
NM_002591.4(PCK1):c.1537C>T (p.His513Tyr) rs267606016
NM_002591.4(PCK1):c.1553G>A (p.Arg518Gln)
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr) rs148684857
NM_002591.4(PCK1):c.1644C>G (p.Ala548=) rs183812420
NM_002591.4(PCK1):c.1658C>T (p.Thr553Met) rs762446688
NM_002591.4(PCK1):c.1688C>T (p.Ala563Val)
NM_002591.4(PCK1):c.203G>T (p.Arg68Leu) rs147273759
NM_002591.4(PCK1):c.228G>T (p.Trp76Cys) rs139008325
NM_002591.4(PCK1):c.407-11G>A
NM_002591.4(PCK1):c.414C>A (p.Thr138=)
NM_002591.4(PCK1):c.474C>T (p.Ile158=)
NM_002591.4(PCK1):c.521C>T (p.Thr174Met)
NM_002591.4(PCK1):c.538G>A (p.Val180Ile) rs367998997
NM_002591.4(PCK1):c.556G>A (p.Asp186Asn) rs11552146
NM_002591.4(PCK1):c.577C>T (p.Leu193Phe)
NM_002591.4(PCK1):c.64A>G (p.Ser22Gly)
NM_002591.4(PCK1):c.651G>A (p.Thr217=)
NM_002591.4(PCK1):c.716C>T (p.Ser239Leu)
NM_002591.4(PCK1):c.733T>G (p.Cys245Gly)
NM_002591.4(PCK1):c.747G>A (p.Arg249=)
NM_002591.4(PCK1):c.824del (p.Gly275fs) rs748437548
NM_002591.4(PCK1):c.831G>A (p.Lys277=)
NM_002591.4(PCK1):c.858C>T (p.Ser286=) rs150928523
NM_002591.4(PCK1):c.898C>T (p.Leu300Phe) rs61760967
NM_002591.4(PCK1):c.903C>T (p.Pro301=)
NM_002591.4(PCK1):c.904G>A (p.Gly302Arg)
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470
NM_002591.4(PCK1):c.954C>T (p.Asp318=) rs147943264
NM_002591.4(PCK1):c.955G>A (p.Ala319Thr)
NM_002637.4(PHKA1):c.*1151C>T rs782605900
NM_002637.4(PHKA1):c.*1241_*1242GT[11] rs111688568
NM_002637.4(PHKA1):c.*1241_*1242GT[14] rs111688568
NM_002637.4(PHKA1):c.*1275A>G rs782306248
NM_002637.4(PHKA1):c.*1303T>C rs782190105
NM_002637.4(PHKA1):c.*1797A>G
NM_002637.4(PHKA1):c.*1865G>T rs782659275
NM_002637.4(PHKA1):c.*2056T>A
NM_002637.4(PHKA1):c.*2110A>G
NM_002637.4(PHKA1):c.*467T>C rs970811941
NM_002637.4(PHKA1):c.*503C>T
NM_002637.4(PHKA1):c.*553C>T rs782055740
NM_002637.4(PHKA1):c.*674A>C rs1028190311
NM_002637.4(PHKA1):c.*772C>T
NM_002637.4(PHKA1):c.*887A>G
NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly)
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys)
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile)
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro)
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys)
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His)
NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr)
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe)
NM_002863.5(PYGL):c.*129T>C rs886050536
NM_002863.5(PYGL):c.*78G>A
NM_002863.5(PYGL):c.1004C>A (p.Ala335Asp) rs886050538
NM_002863.5(PYGL):c.1063G>A (p.Val355Met)
NM_002863.5(PYGL):c.1092+11T>G
NM_002863.5(PYGL):c.1093-11C>G
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.1196G>A (p.Arg399Gln) rs369207678
NM_002863.5(PYGL):c.1274G>A (p.Arg425His) rs2228499
NM_002863.5(PYGL):c.1403T>A (p.Val468Glu)
NM_002863.5(PYGL):c.147C>T (p.Thr49=) rs139338050
NM_002863.5(PYGL):c.1519-15C>A rs372886463
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) rs144989341
NM_002863.5(PYGL):c.1768+10C>T
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) rs374560108
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) rs140296036
NM_002863.5(PYGL):c.2215C>A (p.Leu739Met) rs766875279
NM_002863.5(PYGL):c.2380-15A>G rs886050537
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397
NM_002863.5(PYGL):c.2481C>T (p.Asn827=) rs755274555
NM_002863.5(PYGL):c.310G>A (p.Gly104Ser)
NM_002863.5(PYGL):c.322G>A (p.Ala108Thr)
NM_002863.5(PYGL):c.360A>T (p.Ile120=)
NM_002863.5(PYGL):c.369A>G (p.Leu123=)
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932
NM_002863.5(PYGL):c.691G>A (p.Val231Met) rs148378112
NM_002863.5(PYGL):c.704T>C (p.Met235Thr)
NM_002863.5(PYGL):c.772+14A>G
NM_002863.5(PYGL):c.773-13A>G rs775151283
NM_002863.5(PYGL):c.780del (p.Gly261fs) rs1489848369
NM_002863.5(PYGL):c.823A>G (p.Asn275Asp)
NM_002863.5(PYGL):c.833G>A (p.Arg278Gln) rs375172368
NM_002863.5(PYGL):c.910A>G (p.Thr304Ala)
NM_003041.4(SLC5A2):c.*160C>T
NM_003041.4(SLC5A2):c.*70C>G
NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=)
NM_003041.4(SLC5A2):c.1021+14C>T
NM_003041.4(SLC5A2):c.1129+6G>A
NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala) rs534057160
NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=) rs761863294
NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr) rs141627694
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala)
NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro)
NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=) rs537643888
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val) rs150546732
NM_003041.4(SLC5A2):c.1307T>C (p.Val436Ala) rs886051961
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu)
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)
NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met)
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu)
NM_003041.4(SLC5A2):c.1449+13C>A
NM_003041.4(SLC5A2):c.1449+14G>A rs777309894
NM_003041.4(SLC5A2):c.1450-14T>C rs374122696
NM_003041.4(SLC5A2):c.1450-4G>A rs886051962