ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7622
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_100314640)_(100390579_?)dup
NC_000001.10:g.(?_100316579)_(100387227_?)dup
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_000003.11:g.(?_25805537)_(25805822_?)del
NC_000003.12:g.(?_25719440)_(25734002_?)del
NC_000003.12:g.(?_58428014)_(58431813_?)del
NC_000003.12:g.164978889C>T
NC_000003.12:g.58433858A>G rs373907802
NC_000004.11:g.(?_39459814)_(39528725_?)dup
NC_000004.11:g.(?_39460718)_(39478755_?)dup
NC_000004.11:g.(?_39460738)_(39478735_?)dup
NC_000004.12:g.(?_102650517)_(102726703_?)del
NC_000004.12:g.(?_177431688)_(177442395_?)dup
NC_000004.12:g.107989730A>G
NC_000004.12:g.107989847G>T
NC_000004.12:g.107989877C>A
NC_000007.13:g.(?_151252200)_(151575316_?)del
NC_000007.13:g.(?_151252200)_(151575316_?)dup
NC_000007.13:g.(?_151254277)_(151254328_?)del
NC_000007.13:g.(?_151262800)_(152373170_?)del
NC_000007.13:g.(?_151372486)_(151483647_?)dup
NC_000007.13:g.(?_151478228)_(151573715_?)dup
NC_000007.13:g.(?_151573582)_(151573715_?)dup
NC_000007.13:g.(?_65425884)_(65447170_?)dup
NC_000007.14:g.(?_65960877)_(65982203_?)dup
NC_000008.10:g.(?_42958672)_(43054732_?)dup
NC_000008.10:g.(?_43013698)_(43054712_?)dup
NC_000008.11:g.(?_43083118)_(43304769_?)dup
NC_000008.11:g.(?_43139449)_(43203827_?)dup
NC_000008.11:g.(?_43140487)_(43199579_?)dup
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_118895600)_(118972385_?)dup
NC_000011.9:g.(?_64518138_64519390del
NC_000012.12:g.(?_64747692)_(64747938_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)dup
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NC_000016.9:g.(?_47682424)_(47684852_?)dup
NC_000017.10:g.(?_78078341)_(78093140_?)dup
NC_000017.10:g.(?_78078341)_(78093150_?)dup
NC_000017.10:g.(?_78090757)_(78093140_?)dup
NC_000017.10:g.(?_78092582_78096154del
NC_000019.10:g.(?_48977904)_(48993132_?)dup
NC_000019.10:g.(?_48977914)_(48993363_?)dup
NC_000019.10:g.(?_48987184)_(48987395_?)del
NC_000019.9:g.(?_49481161)_(49496369_?)dup
NC_000020.10:g.(?_389363)_(411094_?)dup
NC_000020.11:g.(?_408719)_(765794_?)dup
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NC_000022.11:g.32043044G>A
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148579628)_(148579848_?)dup
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NC_000023.11:g.(?_120441710)_(120449148_?)del
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.*3C>T
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.1030G>C (p.Asp344His) rs776865078
NM_000027.4(AGA):c.115G>A (p.Ala39Thr) rs763326444
NM_000027.4(AGA):c.127+5G>A
NM_000027.4(AGA):c.128-7dup
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.224T>C (p.Phe75Ser)
NM_000027.4(AGA):c.248G>A (p.Gly83Glu)
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)
NM_000027.4(AGA):c.308_310del (p.Gly103del) rs1553994762
NM_000027.4(AGA):c.334A>G (p.Ile112Val)
NM_000027.4(AGA):c.34G>C (p.Val12Leu)
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.449C>T (p.Ala150Val)
NM_000027.4(AGA):c.507+5G>C
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)
NM_000027.4(AGA):c.535T>C (p.Cys179Arg)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451
NM_000027.4(AGA):c.571G>C (p.Asp191His) rs766110192
NM_000027.4(AGA):c.585T>C (p.His195=)
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.693A>G (p.Ile231Met) rs1579042146
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.699-7C>T rs886059260
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
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.833GAG[1] (p.Gly279del)
NM_000027.4(AGA):c.854C>T (p.Ala285Val)
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.941-5C>T rs377622082
NM_000027.4(AGA):c.95A>C (p.Asn32Thr) rs886059262
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
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.*19G>A rs143458283
NM_000030.3(AGXT):c.*285G>A
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*39G>A rs369979466
NM_000030.3(AGXT):c.*41C>A rs4273214
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.1020A>G (p.Ile340Met) rs4426527
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.1072-91G>A rs180177159
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.1174C>T (p.Leu392=) rs180177167
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173
NM_000030.3(AGXT):c.165+12G>C rs201989825
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.165+19_166-48dup rs180177174
NM_000030.3(AGXT):c.165+40A>C rs57017537
NM_000030.3(AGXT):c.165+44T>A rs58120546
NM_000030.3(AGXT):c.166-14C>T rs180177176
NM_000030.3(AGXT):c.166-47T>C rs180177178
NM_000030.3(AGXT):c.166-54C>T rs180177179
NM_000030.3(AGXT):c.166-56C>T rs114401766
NM_000030.3(AGXT):c.166-57C>T rs180177175
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu)
NM_000030.3(AGXT):c.214A>C (p.Asn72His)
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del) rs1553648333
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) rs180177192
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)
NM_000030.3(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly)
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.358+56_358+64del rs180177209
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.3(AGXT):c.40C>T (p.Leu14=)
NM_000030.3(AGXT):c.423+29C>T rs117043148
NM_000030.3(AGXT):c.423+36A>C rs180177216
NM_000030.3(AGXT):c.423+45T>G rs117357855
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.424-12dup rs398122323
NM_000030.3(AGXT):c.424-16G>A rs74895925
NM_000030.3(AGXT):c.424-4T>C rs369523966
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.524+91C>T rs10196315
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.3(AGXT):c.680+130C>T rs78178548
NM_000030.3(AGXT):c.680+17C>T rs11693280
NM_000030.3(AGXT):c.680+75G>A rs117619103
NM_000030.3(AGXT):c.681-94G>A rs141154272
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup) rs1553648979
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918
NM_000030.3(AGXT):c.777-44A>G rs12464426
NM_000030.3(AGXT):c.777-45C>T rs12478859
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.795C>T (p.Pro265=) rs760015739
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.837T>G (p.Ile279Met) rs180177277
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg) rs180177280
NM_000030.3(AGXT):c.846+52G>A rs12695032
NM_000030.3(AGXT):c.846+5A>G
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.876C>A (p.Arg292=) rs763852365
NM_000030.3(AGXT):c.882C>T (p.Ala294=)
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
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.942G>A (p.Pro314=)
NM_000030.3(AGXT):c.943-117C>T rs10199038
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln)
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148
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.1011G>A (p.Gln337=) rs566549564
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter) rs1554702065
NM_000035.4(ALDOB):c.113-7A>C
NM_000035.4(ALDOB):c.127C>T (p.Arg43Cys)
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys)
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe)
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
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.488C>T (p.Ala163Val) rs202210810
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.583G>A (p.Gly195Arg)
NM_000035.4(ALDOB):c.640T>C (p.Tyr214His)
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.680C>A (p.Thr227Asn)
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys) rs777324536
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.806_808del (p.Cys269del) rs1159180033
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.1001G>T (p.Ser334Ile) rs1554079311
NM_000046.5(ARSB):c.1028A>T (p.Lys343Met) rs1554079305
NM_000046.5(ARSB):c.1032C>G (p.Asn344Lys) rs1554079304
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln)
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603
NM_000046.5(ARSB):c.1057T>A (p.Trp353Arg) rs1554079297
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr)
NM_000046.5(ARSB):c.1115A>G (p.Asp372Gly) rs1554079277
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980
NM_000046.5(ARSB):c.1163G>C (p.Arg388Thr) rs1554074134
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.1195T>C (p.Phe399Leu) rs762979755
NM_000046.5(ARSB):c.1213+5G>A rs1554074119
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214-15A>T
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
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.1258C>G (p.Pro420Ala) rs769542268
NM_000046.5(ARSB):c.1288C>A (p.His430Asn) rs1554069785
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp)
NM_000046.5(ARSB):c.1301G>T (p.Arg434Ile) rs1252936336
NM_000046.5(ARSB):c.1315A>G (p.Lys439Glu) rs1554069778
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu) rs1554069775
NM_000046.5(ARSB):c.1336G>A (p.Gly446Ser) rs1554069772
NM_000046.5(ARSB):c.1336G>C (p.Gly446Arg) rs1554069772
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser) rs1465993279
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1349G>T (p.Trp450Leu) rs1554069685
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly)
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp)
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu) rs906245021
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343
NM_000046.5(ARSB):c.1453C>G (p.His485Asp) rs751829762
NM_000046.5(ARSB):c.1457A>T (p.Asp486Val) rs1554069670
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827
NM_000046.5(ARSB):c.1515C>T (p.Tyr505=) rs1554069663
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr)
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr) rs1554069661
NM_000046.5(ARSB):c.1582_1596del (p.Val528_Trp532del) rs1554069658
NM_000046.5(ARSB):c.1592C>G (p.Pro531Arg) rs1554069659
NM_000046.5(ARSB):c.1600T>C (p.Ter534Gln) rs1554069657
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.167G>A (p.Gly56Asp) rs1554032211
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys) rs1554032205
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn) rs1236509896
NM_000046.5(ARSB):c.178G>A (p.Val60Ile)
NM_000046.5(ARSB):c.194C>T (p.Ser65Phe) rs1233331806
NM_000046.5(ARSB):c.196C>T (p.Arg66Cys)
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro) rs397514441
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu) rs1271212818
NM_000046.5(ARSB):c.246G>A (p.Leu82=) rs1035210606
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898
NM_000046.5(ARSB):c.260C>G (p.Thr87Arg) rs1413561387
NM_000046.5(ARSB):c.264G>C (p.Gln88His) rs750947605
NM_000046.5(ARSB):c.271T>C (p.Cys91Arg) rs1554032113
NM_000046.5(ARSB):c.272G>A (p.Cys91Tyr) rs1554032112
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys) rs751010538
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538
NM_000046.5(ARSB):c.277C>T (p.Pro93Ser) rs1554032104
NM_000046.5(ARSB):c.278C>T (p.Pro93Leu) rs1339096448
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.293T>C (p.Leu98Pro) rs1554032090
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342
NM_000046.5(ARSB):c.312+4C>T
NM_000046.5(ARSB):c.312G>C (p.Gln104His) rs1478202079
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.332A>C (p.His111Pro) rs1554088096
NM_000046.5(ARSB):c.347C>A (p.Pro116His) rs775780931
NM_000046.5(ARSB):c.356_358del (p.Pro119_Ser120delinsArg) rs1554088087
NM_000046.5(ARSB):c.361T>C (p.Cys121Arg) rs1554088083
NM_000046.5(ARSB):c.384_386del (p.Leu129del) rs1180227844
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu) rs1435155976
NM_000046.5(ARSB):c.393G>T (p.Gln131His)
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.410G>T (p.Gly137Val) rs118203938
NM_000046.5(ARSB):c.413A>G (p.Tyr138Cys) rs1554088061
NM_000046.5(ARSB):c.418A>C (p.Thr140Pro) rs1554088058
NM_000046.5(ARSB):c.426G>C (p.Met142Ile) rs1554088053
NM_000046.5(ARSB):c.436T>C (p.Trp146Arg) rs1554088037
NM_000046.5(ARSB):c.437G>C (p.Trp146Ser) rs1554088034
NM_000046.5(ARSB):c.437G>T (p.Trp146Leu) rs1554088034
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala)
NM_000046.5(ARSB):c.440A>C (p.His147Pro) rs1554088030
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144
NM_000046.5(ARSB):c.464G>A (p.Cys155Tyr) rs1554088019
NM_000046.5(ARSB):c.489_491del (p.Thr164del) rs1214445569
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg) rs1554087999
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895
NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp) rs748739839
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342
NM_000046.5(ARSB):c.635C>T (p.Thr212Ile) rs1554087409
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.716A>G (p.Gln239Arg) rs1554086431
NM_000046.5(ARSB):c.719C>T (p.Ser240Phe) rs1554086430
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121
NM_000046.5(ARSB):c.725A>C (p.His242Pro) rs1554086428
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.790C>A (p.His264Asn) rs558569339
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.803G>T (p.Gly268Val) rs1554086400
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu)
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu) rs1280123243
NM_000046.5(ARSB):c.900T>G (p.Asp300Glu) rs1280123243
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.922G>A (p.Gly308Arg) rs1554079335
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
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.1266A>G (p.Pro422=) rs766756785
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
NM_000108.5(DLD):c.1333A>G (p.Lys445Glu)
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro)
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.5(DLD):c.191G>C (p.Gly64Ala)
NM_000108.5(DLD):c.199-7G>T rs1358100638
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.305A>T (p.His102Leu)
NM_000108.5(DLD):c.30C>A (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.367A>G (p.Met123Val) rs111352707
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) rs142232609
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.597A>G (p.Thr199=)
NM_000108.5(DLD):c.597A>T (p.Thr199=) rs768248572
NM_000108.5(DLD):c.656T>C (p.Ile219Thr)
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.814T>C (p.Phe272Leu) rs942843326
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
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.1274G>A (p.Gly425Glu) rs150422575
NM_000147.4(FUCA1):c.167C>G (p.Ala56Gly) rs886046325
NM_000147.4(FUCA1):c.209C>T (p.Pro70Leu) rs770492031
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.422G>T (p.Gly141Val) rs753232669
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.882G>C (p.Glu294Asp) rs1483687600
NM_000147.4(FUCA1):c.923G>A (p.Arg308His) rs372537257
NM_000147.4(FUCA1):c.936G>A (p.Leu312=) rs140932886
NM_000147.4(FUCA1):c.943G>A (p.Val315Ile) rs746590345
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.1138G>C (p.Glu380Gln)
NM_000147.5(FUCA1):c.1260+7A>C
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter)
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu)
NM_000147.5(FUCA1):c.389+15G>C
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)
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_000147.5(FUCA1):c.492G>C (p.Leu164Phe)
NM_000147.5(FUCA1):c.533G>A (p.Arg178His)
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile)
NM_000147.5(FUCA1):c.82del (p.Val28fs)
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)
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.1007C>A (p.Ala336Glu)
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) rs1555560204
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn)
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) rs1555560217
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) rs369472089
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
NM_000151.4(G6PC1):c.230+11T>C
NM_000151.4(G6PC1):c.231-12G>A
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg)
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.340+7G>A
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.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.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.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.888C>G (p.Leu296=) rs1266860369
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469
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.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
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.*2C>T
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.-32-13T>C
NM_000152.5(GAA):c.-325C>T
NM_000152.5(GAA):c.-62A>C rs367731841
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
NM_000152.5(GAA):c.1075+12T>G rs370842677
NM_000152.5(GAA):c.1075+4G>A rs754290055
NM_000152.5(GAA):c.1076-15G>C
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.109C>G (p.Leu37Val) rs369775994
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
NM_000152.5(GAA):c.1103G>T (p.Gly368Val) rs368244038
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser) rs752002666
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) rs1598577393
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) rs756126944
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
NM_000152.5(GAA):c.1194+3G>C rs368539333
NM_000152.5(GAA):c.1194+6T>C rs1470004759
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1195-8G>A rs1194778188
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) rs777431563
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) rs372799904
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) rs1555600194
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) rs1283810246
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868
NM_000152.5(GAA):c.1275G>A (p.Pro425=) rs762826072
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) rs1555600212
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) rs201463496
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
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.1320G>T (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348
NM_000152.5(GAA):c.1326+1G>A rs1205507761
NM_000152.5(GAA):c.1327-7T>G
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.5(GAA):c.1336A>G (p.Ile446Val)
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) rs1555600488
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) rs145712232
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg) rs550065979
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
NM_000152.5(GAA):c.1372T>C (p.Tyr458His) rs1567832012
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp) rs199748889
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1396G>C (p.Val466Leu) rs375006053
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup)
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser) rs201409613
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) rs886043976
NM_000152.5(GAA):c.1426C>A (p.Leu476Met) rs756613882
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro)
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) rs1598580369
NM_000152.5(GAA):c.1437+6G>A
NM_000152.5(GAA):c.1438-10C>G
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
NM_000152.5(GAA):c.1439T>C (p.Val480Ala) rs1224298513
NM_000152.5(GAA):c.1448G>T (p.Gly483Val)
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
NM_000152.5(GAA):c.1551+5G>A
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-14C>T rs199715011
NM_000152.5(GAA):c.1552-14_1552-1del rs1567833173
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1553_1555dup (p.Met519_Asn520insAsn)
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg) rs1039935633
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) rs368568190
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu) rs1598582130
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610
NM_000152.5(GAA):c.1631T>A (p.Val544Glu) rs1567833361
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.167A>T (p.His56Leu)
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
NM_000152.5(GAA):c.1704C>G (p.His568Gln)
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp) rs1555601255
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
NM_000152.5(GAA):c.1750C>A (p.His584Asn) rs780475756
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp) rs1555601273
NM_000152.5(GAA):c.1754+6G>C rs1282791373
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
NM_000152.5(GAA):c.1755-3C>T
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203
NM_000152.5(GAA):c.17C>A (p.Pro6Gln) rs771409180
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) rs771409180
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) rs940955642
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup) rs1555601409
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277
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.1831G>A (p.Gly611Ser)
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1844G>T (p.Gly615Val)
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
NM_000152.5(GAA):c.1882G>A (p.Val628Met) rs745911962
NM_000152.5(GAA):c.1888+5G>T rs528282884
NM_000152.5(GAA):c.1888+6_1888+14del
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1889-7C>G
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) rs1448515860
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu) rs770248553
NM_000152.5(GAA):c.1948C>A (p.Leu650Met) rs1359573192
NM_000152.5(GAA):c.194C>A (p.Pro65His) rs1482530928
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr) rs916566117
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) rs916566117
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln) rs886053546
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
NM_000152.5(GAA):c.2040+4G>C rs1598585909
NM_000152.5(GAA):c.2041-4G>T rs775757700
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) rs776486462
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) rs1555601721
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys) rs1598586309
NM_000152.5(GAA):c.205C>G (p.Gln69Glu) rs370174315
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
NM_000152.5(GAA):c.209C>A (p.Ala70Glu) rs775376321
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
NM_000152.5(GAA):c.2122C>A (p.His708Asn) rs149916476
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
NM_000152.5(GAA):c.2122C>T (p.His708Tyr) rs149916476
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) rs1332887976
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.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2156C>T (p.Ala719Val) rs146762316
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln) rs140376273
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) rs1290010789
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) rs1232306443
NM_000152.5(GAA):c.2189+5_2189+8del
NM_000152.5(GAA):c.2190-10C>A rs1567838707
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.221G>A (p.Arg74His)
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) rs767773929
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) rs1347832021
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.223C>T (p.Pro75Ser) rs755561471
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) rs1555598675
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) rs138183791
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.5(GAA):c.228_229insAGC (p.Ala77_Val78insSer)
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.229G>T (p.Ala77Ser) rs781365881
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2331+4A>C
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) rs539031621
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120
NM_000152.5(GAA):c.2459C>T (p.Ala820Val) rs786204304
NM_000152.5(GAA):c.2459_2461del (p.Ala820del) rs1182634884
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.5(GAA):c.247G>A (p.Asp83Asn) rs771101156
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
NM_000152.5(GAA):c.2481+5C>G rs1598592432
NM_000152.5(GAA):c.2481+6T>C rs1479232207
NM_000152.5(GAA):c.2482-5T>C rs1290870969
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg) rs1598593166
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) rs1555603057
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) rs752421149
NM_000152.5(GAA):c.2510G>A (p.Arg837His) rs746095374
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys) rs920085419
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg) rs1555603113
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) rs1445358978
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln) rs747076541
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) rs769578772
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.2672G>A (p.Arg891His) rs199524847
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu) rs199524847
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065
NM_000152.5(GAA):c.2732C>T (p.Thr911Met) rs1027032995
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro) rs1555603272
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) rs1221948995
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) rs773667152
NM_000152.5(GAA):c.2757del (p.Asn919fs) rs1555603283
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198
NM_000152.5(GAA):c.2761G>T (p.Val921Phe) rs1555603286
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu) rs1555603301
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) rs1598594483
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.2799+2C>T rs1555603318
NM_000152.5(GAA):c.2799+4A>G rs778032599
NM_000152.5(GAA):c.2800-11C>G rs374571499
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.2803C>T (p.Leu935=)
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) rs1555603411
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
NM_000152.5(GAA):c.2819_2820insAG (p.Leu941fs)
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) rs1034101189
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) rs183458422
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter) rs1555603436
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) rs958648168
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) rs1334316018
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) rs778816809
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
NM_000152.5(GAA):c.309C>T (p.Cys103=) rs373307393
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
NM_000152.5(GAA):c.311_313del (p.Glu104del)
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106
NM_000152.5(GAA):c.319G>A (p.Gly107Ser) rs151323405
NM_000152.5(GAA):c.31C>G (p.Arg11Gly) rs772394815
NM_000152.5(GAA):c.31C>T (p.Arg11Trp) rs772394815
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) rs754285414
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414
NM_000152.5(GAA):c.355G>A (p.Gly119Arg) rs1555598802
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874
NM_000152.5(GAA):c.364A>G (p.Met122Val)
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806
NM_000152.5(GAA):c.370C>G (p.Gln124Glu) rs1291571294
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3]) rs1555598846
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626
NM_000152.5(GAA):c.412C>G (p.Leu138Val) rs761221259
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
NM_000152.5(GAA):c.421C>A (p.Leu141Met) rs1379595858
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
NM_000152.5(GAA):c.43G>A (p.Val15Ile) rs772157487
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) rs991177340
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) rs1567826289
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.461G>A (p.Arg154His)
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
NM_000152.5(GAA):c.487G>A (p.Asp163Asn) rs1204103099
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) rs751425831
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.5(GAA):c.503G>C (p.Arg168Pro) 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.514A>G (p.Met172Val) rs1307823755
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535
NM_000152.5(GAA):c.539A>G (p.His180Arg)
NM_000152.5(GAA):c.545C>G (p.Thr182Arg) rs200524747
NM_000152.5(GAA):c.546+3G>A rs371405931
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546+6C>T rs375727055
NM_000152.5(GAA):c.54C>T (p.Leu18=) rs886053542
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198
NM_000152.5(GAA):c.566G>A (p.Arg189Lys) rs1598571878
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) rs751286274
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551
NM_000152.5(GAA):c.625T>C (p.Tyr209His) rs930808379
NM_000152.5(GAA):c.630C>T (p.Ser210=)
NM_000152.5(GAA):c.631G>A (p.Val211Met) rs760995790
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del) rs1555599099
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) rs768596085
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) rs201286896
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) rs1567827215
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036
NM_000152.5(GAA):c.663C>G (p.Ile221Met) rs142878958
NM_000152.5(GAA):c.667C>T (p.Arg223Cys) rs886043961
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr)
NM_000152.5(GAA):c.682G>A (p.Gly228Ser) rs747150907
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432
NM_000152.5(GAA):c.686G>C (p.Arg229Pro) rs776509432
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.704C>T (p.Thr235Met) rs752950890
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.732G>C (p.Gln244His)
NM_000152.5(GAA):c.737T>G (p.Leu246Arg) rs1555599608
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) rs1169157671
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
NM_000152.5(GAA):c.769A>G (p.Ile257Val)
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) rs149761650
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) rs1385098269
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994
NM_000152.5(GAA):c.787C>T (p.His263Tyr) rs1555599660
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
NM_000152.5(GAA):c.830C>T (p.Thr277Ile) rs1598575278
NM_000152.5(GAA):c.840C>G (p.Asn280Lys)
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830
NM_000152.5(GAA):c.851C>T (p.Ala284Val) rs147569830
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+4C>G rs886042706
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC rs3071247
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962
NM_000152.5(GAA):c.859-3C>T rs1356743231
NM_000152.5(GAA):c.859C>T (p.Pro287Ser) rs369735511
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) rs769074720
NM_000152.5(GAA):c.866C>T (p.Ala289Val) rs145903608
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702
NM_000152.5(GAA):c.883C>A (p.His295Asn)
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384
NM_000152.5(GAA):c.912C>T (p.Gly304=)
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987
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.918G>A (p.Ser306=) rs373276219
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212
NM_000152.5(GAA):c.924C>A (p.His308Gln) rs370105640
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
NM_000152.5(GAA):c.93_95del (p.Leu32del) rs1278892703
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.955+14C>A rs756921041
NM_000152.5(GAA):c.955+5G>A
NM_000152.5(GAA):c.955+5G>C
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
NM_000152.5(GAA):c.956-3C>T
NM_000152.5(GAA):c.956-8C>A
NM_000152.5(GAA):c.969G>T (p.Gln323His) rs1266693289
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) rs1555599956
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.-33_-20dup rs1555748974
NM_000154.2(GALK1):c.-44C>T rs758902207
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys) rs769167240
NM_000154.2(GALK1):c.1025G>A (p.Arg342His)
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473
NM_000154.2(GALK1):c.1057G>A (p.Val353Met)
NM_000154.2(GALK1):c.1094T>C (p.Met365Thr)
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503
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.116A>C (p.Asn39Thr)
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser) rs536209426
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.163A>G (p.Met55Val)
NM_000154.2(GALK1):c.165+6G>A rs779996721
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) rs1365349586
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu)
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln)
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.409G>C (p.Gly137Arg) rs1555748630
NM_000154.2(GALK1):c.42C>G (p.Ala14=)
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu) rs575077063
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg)
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del) rs1555748595
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp)
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.716G>A (p.Arg239Gln) rs575139300
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.821G>A (p.Gly274Asp) rs959842362
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser)
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln) rs370029131
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp) rs370987432
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.919A>C (p.Met307Leu)
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly)
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000154.2(GALK1):c.995C>T (p.Ala332Val) rs886053419
NM_000155.3(GALT):c.-130_-129insCAGT rs111033640
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.-11C>A
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810
NM_000155.4(GALT):c.1008G>A (p.Met336Ile)
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile) rs111033812
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
NM_000155.4(GALT):c.1059+24G>A rs111033840
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu)
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.1116C>T (p.Asp372=) rs757314660
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.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.157T>C (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.172G>A (p.Glu58Lys) rs1554709147
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398
NM_000155.4(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
NM_000155.4(GALT):c.247G>A (p.Gly83Arg) rs111033660
NM_000155.4(GALT):c.253-6C>A
NM_000155.4(GALT):c.253-6C>T
NM_000155.4(GALT):c.270T>C (p.Asp90=)
NM_000155.4(GALT):c.278T>C (p.Phe93Ser)
NM_000155.4(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.295T>A (p.Phe99Ile)
NM_000155.4(GALT):c.309G>A (p.Gln103=) rs367543253
NM_000155.4(GALT):c.328+33G>A
NM_000155.4(GALT):c.328+7T>C rs774350978
NM_000155.4(GALT):c.32G>A (p.Arg11His) rs757632977
NM_000155.4(GALT):c.336T>G (p.Ser112Arg) rs367543254
NM_000155.4(GALT):c.346C>A (p.Leu116Ile) rs1554709252
NM_000155.4(GALT):c.346C>G (p.Leu116Val)
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674
NM_000155.4(GALT):c.377+7A>G rs376026879
NM_000155.4(GALT):c.378-12G>A
NM_000155.4(GALT):c.378-7C>T
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.409G>A (p.Val137Ile)
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.419C>T (p.Pro140Leu)
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) rs367543257
NM_000155.4(GALT):c.502_504del (p.Val168del)
NM_000155.4(GALT):c.507+10G>A rs753052473
NM_000155.4(GALT):c.507+12C>T rs199572263
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.4(GALT):c.527C>T (p.Ala176Val) rs1554709329
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr)
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.572C>A (p.Ala191Asp) rs794727838
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.630G>A (p.Lys210=) rs367543260
NM_000155.4(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750
NM_000155.4(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.4(GALT):c.687+9G>C rs117998880
NM_000155.4(GALT):c.687G>A (p.Lys229=) rs111033753
NM_000155.4(GALT):c.688-4C>T rs374014228
NM_000155.4(GALT):c.715T>C (p.Trp239Arg) rs1336294207
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.773G>A (p.Arg258His)
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.788G>A (p.Arg263Gln) rs777023967
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.797A>G (p.Glu266Gly)
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.820+4A>C rs398123186
NM_000155.4(GALT):c.827C>G (p.Ala276Gly) rs1564102003
NM_000155.4(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000155.4(GALT):c.843G>A (p.Lys281=) rs368298966
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.851C>A (p.Thr284Asn) rs753364304
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.4(GALT):c.863A>G (p.Asn288Ser)
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Tyr296_Ser297insMetAlaSerPhePro) rs886043498
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys) rs775789069
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_000155.4(GALT):c.957C>T (p.His319=) rs111033792
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000155.4(GALT):c.976C>T (p.Leu326Phe)
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
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.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
NM_000158.4(GBE1):c.1213C>T (p.Pro405Ser)
NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn)
NM_000158.4(GBE1):c.1237-15C>T rs376809475
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala) rs756129254
NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala) rs745594101
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly)
NM_000158.4(GBE1):c.1335+9C>G rs754084067
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn)
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser)
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.143+8C>G rs750447886
NM_000158.4(GBE1):c.144-7T>C rs886058902
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
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.1570C>G (p.Arg524Gly) rs137852888
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.1618+4A>G
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe) rs544404712
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys) rs370246900
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136
NM_000158.4(GBE1):c.1810G>A (p.Val604Met)
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.1877A>G (p.Asn626Ser) rs185631651
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr)
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser)
NM_000158.4(GBE1):c.23C>T (p.Ala8Val)
NM_000158.4(GBE1):c.259T>C (p.Tyr87His)
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205
NM_000158.4(GBE1):c.313+15G>A rs184391304
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.429+5T>G
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys)
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)
NM_000158.4(GBE1):c.556-6C>T
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
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.718A>G (p.Ile240Val)
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.776C>G (p.Ala259Gly) rs1576183525
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg) rs1559673607
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000158.4(GBE1):c.905T>C (p.Met302Thr) rs1189654498
NM_000158.4(GBE1):c.906G>A (p.Met302Ile)
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.990C>T (p.Ser330=) rs371194644
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.1310C>T (p.Thr437Ile) rs1185622190
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_000175.5(GPI):c.-9A>G
NM_000175.5(GPI):c.1270-9G>A
NM_000175.5(GPI):c.1498G>A (p.Val500Ile)
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr)
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551
NM_000175.5(GPI):c.640A>G (p.Thr214Ala)
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.1065C>T (p.Asp355=)
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)
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.1291G>A (p.Glu431Lys)
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.1429C>T (p.Arg477Trp) rs774393243
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys) rs1159683641
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu) rs769252159
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)
NM_000181.4(GUSB):c.1790-18dup rs750022485
NM_000181.4(GUSB):c.1790-2dup
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)
NM_000181.4(GUSB):c.1834del (p.Gln612fs) rs1085307069
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg) rs776024156
NM_000181.4(GUSB):c.210+11G>C rs886062403
NM_000181.4(GUSB):c.211-8C>G rs2293340
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu)
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.366G>C (p.Arg122Ser) rs1583946993
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)
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.532C>T (p.Pro178Ser)
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
NM_000181.4(GUSB):c.697G>A (p.Val233Ile) rs202210104
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)
NM_000181.4(GUSB):c.918G>T (p.Gln306His) rs375828604
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu) rs1583924426
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)
NM_000188.3(HK1):c.2519C>T (p.Ala840Val)
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.-12_-10GCC[5] (p.Met1_Ser2insAla) rs1555624208
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del) rs1555620306
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg) rs1428699412
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg) rs1434209913
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu) rs746037899
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu)
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del)
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser) rs1555623007
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu) rs150222010
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser) rs886053559
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His)
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
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.1371T>C (p.Phe457=)
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp) rs754273400
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
NM_000199.5(SGSH):c.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys) rs145645179
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del) rs1252944094
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter) rs1232231848
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe) rs1555622928
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
NM_000199.5(SGSH):c.250-15C>T
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
NM_000199.5(SGSH):c.355+9C>T
NM_000199.5(SGSH):c.356-6G>A rs764808311
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
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.416C>T (p.Thr139Met) rs775112689
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg)
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup) rs1555624091
NM_000199.5(SGSH):c.506+13G>T
NM_000199.5(SGSH):c.506+9C>T rs376523398
NM_000199.5(SGSH):c.523G>A (p.Val175Ile)
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp) rs760996554
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly)
NM_000199.5(SGSH):c.532C>G (p.His178Asp) rs1598748596
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037
NM_000199.5(SGSH):c.542A>G (p.His181Arg) rs776228545
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187
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.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.676G>A (p.Val226Ile) rs145967352
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser) rs756437160
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu) rs748671633
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly) rs374621913
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn) rs886053560
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile)
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566
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.792C>T (p.Asn264=) rs147962306
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.813G>A (p.Thr271=) rs779676466
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.88+8C>T rs75720127
NM_000199.5(SGSH):c.89-10C>T rs766929408
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000199.5(SGSH):c.89-4G>A rs375536965
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys) rs1598742412
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000199.5(SGSH):c.937_939dup (p.Val313dup) rs1555620723
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu) rs1602725808
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.331G>C (p.Val111Leu) rs1602748386
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.438C>A (p.Thr146=)
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
NM_000202.8(IDS):c.525T>A (p.Asp175Glu)
NM_000202.8(IDS):c.608A>T (p.Glu203Val)
NM_000202.8(IDS):c.781C>T (p.Pro261Ser)
NM_000202.8(IDS):c.826G>C (p.Val276Leu)
NM_000202.8(IDS):c.878A>G (p.Gln293Arg)
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp)
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.*100A>G
NM_000203.5(IDUA):c.-2C>T
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.1046A>G (p.Asp349Gly)
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser) rs1577541140
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val)
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del)
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg) rs1553917309
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro) rs1553917310
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1168A>G (p.Met390Val)
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273
NM_000203.5(IDUA):c.1189+5G>A rs1553917318
NM_000203.5(IDUA):c.1190-10C>A
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu)
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu) rs1465083754
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del) rs1553917376
NM_000203.5(IDUA):c.1247A>C (p.His416Pro) rs1419725967
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del) rs1450080299
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
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.1339C>T (p.Arg447Cys)
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp)
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.1349C>G (p.Pro450Arg) rs895626490
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del) rs1553917418
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly)
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
NM_000203.5(IDUA):c.1402+8G>A
NM_000203.5(IDUA):c.1403-11A>G
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del) rs1553917455
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu)
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1482C>G (p.Val494=) rs999890083
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu) rs776590488
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu)
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met)
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys)
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
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.1679C>A (p.Thr560Asn)
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu)
NM_000203.5(IDUA):c.1727+4C>T rs1202966289
NM_000203.5(IDUA):c.1727+9G>T
NM_000203.5(IDUA):c.1728-9C>T rs374775605
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile)
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro)
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His)
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser) rs1553917753
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu)
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter) rs1553917764
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694
NM_000203.5(IDUA):c.22G>T (p.Ala8Ser)
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234
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.247C>T (p.Arg83Cys)
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.26C>G (p.Ala9Gly)
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg)
NM_000203.5(IDUA):c.299+10G>A rs775172497
NM_000203.5(IDUA):c.299+1212del rs1553915188
NM_000203.5(IDUA):c.299+7G>A rs200911718
NM_000203.5(IDUA):c.299+8G>A
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)
NM_000203.5(IDUA):c.348G>A (p.Gly116=)
NM_000203.5(IDUA):c.34_45dup (p.Ala12_Ala15dup) rs1553914754
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994
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.399G>C (p.Met133Ile) rs558683362
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)
NM_000203.5(IDUA):c.44C>T (p.Ala15Val) rs886059749
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys) rs1553916949
NM_000203.5(IDUA):c.493+6C>G
NM_000203.5(IDUA):c.493+6C>T
NM_000203.5(IDUA):c.493+7G>A rs200509712
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.557A>G (p.His186Arg)
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro)
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp) rs770087890
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup) rs1553917091
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) rs760582777
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup) rs764105238
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser) rs1001972534
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu) rs745879759
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser)
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del) rs1553914780
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser)
NM_000203.5(IDUA):c.720C>G (p.His240Gln)
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del) rs764800004
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly)
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637
NM_000203.5(IDUA):c.793-10C>G rs886059754
NM_000203.5(IDUA):c.793-5C>T
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe) rs766950553
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu) rs536381533
NM_000203.5(IDUA):c.837C>T (p.Val279=)
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp)
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup) rs1553917216
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568
NM_000203.5(IDUA):c.946G>A (p.Val316Met) rs755445369
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723
NM_000203.5(IDUA):c.964G>T (p.Val322Leu)
NM_000203.5(IDUA):c.972+8G>A
NM_000203.5(IDUA):c.973-4G>A rs745832717
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del) rs1553917253
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr) rs1461992821
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer) rs759412123
NM_000213.5(ITGB4):c.5218+2T>C rs780675808
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs) rs1555746537
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter) rs1443010160
NM_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.104G>A (p.Arg35His)
NM_000262.3(NAGA):c.110G>A (p.Arg37His) rs199834981
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln) rs144771084
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs)
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) rs1569456853
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
NM_000262.3(NAGA):c.16G>A (p.Val6Met) rs1602499597
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) rs886057597
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr)
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000262.3(NAGA):c.324C>T (p.Tyr108=)
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr) rs749506008
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.406G>C (p.Asp136His) 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.487G>A (p.Glu163Lys) rs372458856
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.833C>T (p.Ala278Val)
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.983T>C (p.Met328Thr) rs140356002
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.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) rs768918822
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro)
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) rs1599260473
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) rs1555622266
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile)
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.135G>C (p.Ala45=)
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn) rs1555622346
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) rs104894599
NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
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.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp) rs200981229
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val)
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
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.1546C>T (p.Pro516Ser) rs1599261339
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val) rs886052952
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) rs146715254
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) rs1555622482
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
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.1918C>G (p.Gln640Glu)
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His) rs1599262171
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) rs540744217
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg) rs1329159364
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) rs1555621404
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) rs1555622589
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) rs749371796
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup) rs1555621450
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del) rs1555621405
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg)
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del) rs1555621469
NM_000263.4(NAGLU):c.383+7C>T rs768602711
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) rs1555621579
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu) rs1238423614
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val)
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del) rs1555621605
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666
NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp)
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup) rs1555621396
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
NM_000263.4(NAGLU):c.678+4A>G
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) rs146456266
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) rs777479452
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806
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.1014_1034dup (p.Glu345_Ile346insAspAspValGluValArgLys)
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) rs1602233040
NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser)
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr) rs1057518756
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val) rs863224145
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys) rs759062849
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) rs755945768
NM_000284.4(PDHA1):c.998_1008+20dup
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.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.6(PFKM):c.1063-5C>T rs758178966
NM_000289.6(PFKM):c.1063-6C>A
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu)
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg)
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000289.6(PFKM):c.1192-3_1192-2del
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.1992+5G>A
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu)
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser) rs1592832922
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser) rs1592727517
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672
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.634T>C (p.Cys212Arg)
NM_000289.6(PFKM):c.638+15C>A rs376150217
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_000289.6(PFKM):c.846G>A (p.Leu282=)
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752
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.143C>T (p.Ala48Val)
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu) rs151308911
NM_000290.4(PGAM2):c.194G>A (p.Arg65His)
NM_000290.4(PGAM2):c.19G>A (p.Val7Met)
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg)
NM_000290.4(PGAM2):c.244G>A (p.Val82Met)
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) rs528467394
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys)
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) rs139561812
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000290.4(PGAM2):c.35_37del (p.Gly12del)
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)
NM_000290.4(PGAM2):c.36C>T (p.Gly12=)
NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu) rs1385458139
NM_000290.4(PGAM2):c.414+6C>T
NM_000290.4(PGAM2):c.415-3C>T rs201133395
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.545T>C (p.Leu182Pro)
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp)
NM_000290.4(PGAM2):c.576C>T (p.Gly192=)
NM_000290.4(PGAM2):c.611C>T (p.Ala204Val) rs747760221
NM_000290.4(PGAM2):c.62G>A (p.Arg21His)
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln)
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) rs1187663822
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn) rs778051353
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met) rs368594655
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)
NM_000292.3(PHKA2):c.1964-3C>T
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro) rs1569298640
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)
NM_000292.3(PHKA2):c.2517+5G>A
NM_000292.3(PHKA2):c.2597+2dup
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val) rs1601700586
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) rs773766679
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) rs1555988071
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn) rs1601776489
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) rs1569286164
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg) rs1601685360
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)
NM_000292.3(PHKA2):c.395A>G (p.His132Arg)
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val) rs367696431
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr) rs1601758342
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.1054C>G (p.Pro352Ala)
NM_000293.3(PHKB):c.1117A>G (p.Met373Val)
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val)
NM_000293.3(PHKB):c.1153G>A (p.Val385Ile)
NM_000293.3(PHKB):c.1204+9G>T rs200832185
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln)
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln)
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.1405C>T (p.Arg469Cys)
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.1730C>T (p.Pro577Leu) rs775984009
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242
NM_000293.3(PHKB):c.1748G>A (p.Ser583Asn) rs1567341136
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.1894A>G (p.Asn632Asp)
NM_000293.3(PHKB):c.1964G>A (p.Arg655His)
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.1972-7G>A rs765332910
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile) rs1555472064
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.245C>G (p.Ala82Gly) rs754835322
NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala)
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg) rs150902092
NM_000293.3(PHKB):c.2677G>C (p.Asp893His)
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568
NM_000293.3(PHKB):c.2710C>T (p.Pro904Ser) rs1400548271
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg) rs886052023
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys)
NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn)
NM_000293.3(PHKB):c.2819G>C (p.Gly940Ala)
NM_000293.3(PHKB):c.2832A>G (p.Arg944=)
NM_000293.3(PHKB):c.287C>G (p.Ala96Gly)
NM_000293.3(PHKB):c.2882A>T (p.Lys961Met) rs371541668
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile)
NM_000293.3(PHKB):c.3039C>A (p.Asn1013Lys) rs151222947
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.3175C>T (p.Pro1059Ser)
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198
NM_000293.3(PHKB):c.3259G>A (p.Asp1087Asn)
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022
NM_000293.3(PHKB):c.365T>C (p.Met122Thr)
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.405+8_405+10del
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys) rs762531075
NM_000293.3(PHKB):c.436A>G (p.Thr146Ala) rs146558295
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.530T>C (p.Leu177Pro)
NM_000293.3(PHKB):c.545T>G (p.Leu182Arg)
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000293.3(PHKB):c.595-5T>G rs369184808
NM_000293.3(PHKB):c.604A>G (p.Ile202Val)
NM_000293.3(PHKB):c.632G>A (p.Arg211Lys)
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.820C>T (p.Arg274Cys) rs781197907
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser)
NM_000293.3(PHKB):c.893C>T (p.Pro298Leu)
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)
NM_000293.3(PHKB):c.914T>C (p.Phe305Ser) rs746454503
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.1030C>T (p.Arg344Trp)
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.1184C>T (p.Ala395Val)
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)
NM_000294.3(PHKG2):c.158_160del (p.Lys53del)
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys) rs753644625
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.227G>A (p.Arg76Gln) rs138299462
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys) rs779594016
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr) rs535265672
NM_000294.3(PHKG2):c.271+14C>T rs572169140
NM_000294.3(PHKG2):c.271+6G>A
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.431T>C (p.Leu144Pro)
NM_000294.3(PHKG2):c.448G>A (p.Val150Met) rs886051911
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser)
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.646C>A (p.Leu216Ile)
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys) rs1596677187
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val) rs777228104
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala) rs780358808
NM_000294.3(PHKG2):c.911C>A (p.Pro304His) rs781099286
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602
NM_000294.3(PHKG2):c.927+13G>A
NM_000294.3(PHKG2):c.928-9C>G rs886051913
NM_000294.3(PHKG2):c.95+11G>A rs886051910
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln)
NM_000294.3(PHKG2):c.96-7C>G
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp)
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.1269+43T>C rs8177982
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064
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.814C>G (p.Leu272Val)