ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1357
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HGVS dbSNP
NC_000001.10:g.(?_100340233)_(100343394_?)del
NC_000001.10:g.(?_100366308)_(100367832_?)del
NC_000001.10:g.(?_100366308_100367832del
NC_000001.11:g.(?_23859778)_(23859923_?)del
NC_000001.11:g.(?_99862247)_(99862433_?)del
NC_000001.11:g.(?_99892422)_(99892617_?)del
NC_000001.11:g.(?_99902663)_(99902814_?)del
NC_000001.11:g.(?_99910692)_(99910867_?)del
NC_000001.11:g.(?_99910692)_(99913758_?)del
NC_000003.11:g.(?_15683405)_(15687154_?)del
NC_000003.11:g.(?_25760931)_(25831376_?)del
NC_000003.11:g.(?_25820055)_(25824881_?)del
NC_000003.11:g.(?_50339478)_(50341042_?)del
NC_000003.11:g.(?_81539548)_(81754774_?)del
NC_000003.11:g.(?_81584336)_(81584486_?)del
NC_000003.11:g.(?_81584336)_(81810678_?)del
NC_000003.11:g.(?_81627056)_(81810688_?)del
NC_000003.11:g.(?_81810516)_(81810678_?)del
NC_000003.12:g.(?_15601831)_(15601914_?)del
NC_000003.12:g.(?_25751078)_(25751283_?)del
NC_000003.12:g.(?_33097001)_(33097095_?)del
NC_000003.12:g.(?_81490387)_(81761537_?)del
NC_000003.12:g.(?_81490397)_(81761527_?)del
NC_000003.12:g.(?_81499090)_(81761537_?)del
NC_000003.12:g.(?_81591027)_(81594033_?)del
NC_000003.12:g.(?_81642771)_(81643000_?)del
NC_000003.12:g.(?_81642771)_(81670963_?)del
NC_000003.12:g.(?_81646382)_(81670963_?)del
NC_000003.12:g.(?_81761375)_(81761517_?)del
NC_000004.11:g.(?_178363393)_(178363667_?)del
NC_000004.11:g.(?_996510)_(998355_?)del
NC_000005.10:g.(?_78885574)_(78885837_?)del
NC_000005.10:g.(?_78964406)_(78969202_?)del
NC_000005.9:g.(?_77385207)_(78135259_?)del
NC_000005.9:g.(?_78111899)_(78135259_?)del
NC_000005.9:g.(?_78260219)_(78265035_?)del
NC_000005.9:g.(?_78280740)_(78281091_?)del
NC_000007.14:g.(?_107901728)_(107906378_?)del
NC_000007.14:g.(?_65960877)_(66092932_?)del
NC_000007.14:g.(?_65967711)_(65970386_?)del
NC_000007.14:g.(?_65970262)_(65970386_?)del
NC_000007.14:g.(?_65974275)_(65982203_?)del
NC_000008.10:g.(?_43052081)_(43053105_?)del
NC_000008.11:g.(?_43140497)_(43161507_?)del
NC_000008.11:g.(?_43169153)_(43178254_?)del
NC_000008.11:g.(?_43196928)_(43197972_?)del
NC_000009.11:g.(?_104188817)_(104193189_?)del
NC_000009.11:g.(?_104188827)_(104193169_?)del
NC_000009.11:g.(?_34645662_34651235del
NC_000009.12:g.(?_101424833)_(101437751_?)del
NC_000009.12:g.(?_101426493)_(101437751_?)del
NC_000009.12:g.(?_34645559)_(34648914_?)del
NC_000009.12:g.(?_34645559)_(34649574_?)del
NC_000009.12:g.(?_34645559)_(34651238_?)del
NC_000009.12:g.(?_34646586)_(34651238_?)del
NC_000009.12:g.(?_34646609)_(34650459_?)del
NC_000009.12:g.(?_94639121)_(94639330_?)del
NC_000011.10:g.(?_119024900)_(119029379_?)del
NC_000011.10:g.(?_119028174)_(119029389_?)del
NC_000011.10:g.(?_64750356)_(64750603_?)del
NC_000011.10:g.(?_64750366)_(64750593_?)del
NC_000011.10:g.(?_64758226)_(64758724_?)del
NC_000011.9:g.(?_111896177)_(111922093_?)del
NC_000011.9:g.(?_118899922)_(118900089_?)del
NC_000011.9:g.(?_64525241)_(64527380_?)del
NC_000012.12:g.(?_64739371)_(64747928_?)del
NC_000014.8:g.(?_51372090)_(51411141_?)del
NC_000014.9:g.(?_50909875)_(50912323_?)del
NC_000016.10:g.(?_47669195)_(47669437_?)del
NC_000016.10:g.(?_87888109)_(87891974_?)del
NC_000016.10:g.(?_87904766)_(87904924_?)del
NC_000016.10:g.(?_87936289)_(87936470_?)del
NC_000016.10:g.(?_88814419)_(88856897_?)del
NC_000016.10:g.(?_88822569)_(88842849_?)del
NC_000016.10:g.(?_88826682)_(88826858_?)del
NC_000016.10:g.(?_88837602)_(88842849_?)del
NC_000016.10:g.(?_88840972)_(88842849_?)del
NC_000016.10:g.(?_88856738)_(88856897_?)del
NC_000016.9:g.(?_47545556)_(47581479_?)del
NC_000016.9:g.(?_87636753)_(88505740_?)del
NC_000016.9:g.(?_87938372)_(87960571_?)del
NC_000017.10:g.(?_40690347)_(40690783_?)del
NC_000017.10:g.(?_41055938)_(41063453_?)del
NC_000017.10:g.(?_41059530)_(41059655_?)del
NC_000017.10:g.(?_78090799_78093893del
NC_000017.10:g.(?_78091652_78092189del
NC_000017.10:g.(?_78091972)_(78092176_?)del
NC_000017.10:g.(?_78194005)_(78194132_?)del
NC_000017.11:g.(?_42900800)_(42904229_?)del
NC_000017.11:g.(?_80104542)_(80105914_?)del
NC_000017.11:g.(?_80108677)_(80113386_?)del
NC_000017.11:g.(?_80109935)_(80113376_?)del
NC_000017.11:g.(?_80118183)_(80118367_?)del
NC_000017.11:g.(?_80118193)_(80118357_?)del
NC_000017.11:g.(?_80213794)_(80215148_?)del
NC_000019.10:g.(?_12656561)_(12661386_?)del
NC_000019.9:g.(?_12760717)_(12761046_?)del
NC_000019.9:g.(?_12762957)_(12772200_?)del
NC_000019.9:g.(?_49485502)_(49486104_?)del
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36938822)_(36939004_?)del
NC_000023.10:g.(?_119565168)_(119603034_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148571835)_(148582578_?)del
NC_000023.10:g.(?_148577857)_(148579858_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NC_000023.10:g.(?_18660114)_(19377781_?)del
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120431313)_(120470223_?)del
NC_000023.11:g.(?_18920012)_(18920221_?)del
NC_000023.11:g.(?_18929208)_(18983952_?)del
NC_000023.11:g.(?_72644342)_(72676170_?)del
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.128-2A>G
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.210del (p.Asp70fs)
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
NM_000027.4(AGA):c.454C>T (p.Gln152Ter)
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000027.4(AGA):c.555_558del (p.Gly186fs)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
NM_000027.4(AGA):c.698+1del
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.859C>T (p.Gln287Ter)
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1000-1G>T
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.302del (p.Lys101fs) rs974582114
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>T
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.43del (p.Glu15fs)
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243
NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)
NM_000046.5(ARSB):c.103_118del (p.Pro35fs)
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113del (p.Gly38fs)
NM_000046.5(ARSB):c.1143-1G>C rs431905495
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.121dup (p.Ala41fs)
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)
NM_000046.5(ARSB):c.1558del (p.Arg520fs)
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter)
NM_000046.5(ARSB):c.173del (p.Asn58fs)
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter)
NM_000046.5(ARSB):c.385del (p.Leu129fs)
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525
NM_000046.5(ARSB):c.468del (p.Pro157fs)
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter) rs1580121683
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter) rs1554079318
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter)
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) rs1562908173
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs)
NM_000108.5(DLD):c.1396G>T (p.Glu466Ter)
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs)
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160
NM_000108.5(DLD):c.821dup (p.Leu274fs)
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
NM_000147.4(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.4(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) rs387906505
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.160_224dup (p.Lys76_Trp77insArgLysLeuTrpAlaLeuAsnSerPheGlyTer)
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.231-1G>A rs1555559279
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)
NM_000151.4(G6PC1):c.324del (p.Cys109fs)
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.356A>T (p.His119Leu)
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)
NM_000151.4(G6PC1):c.388_389delinsTA (p.Met130Ter)
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro) rs775826449
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1076-22T>G rs762260678
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
NM_000152.5(GAA):c.1225dup (p.Asp409fs)
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292
NM_000152.5(GAA):c.1308del (p.Arg437fs)
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000152.5(GAA):c.1336dup (p.Ile446fs)
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs)
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
NM_000152.5(GAA):c.1396del (p.Val466fs)
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs)
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+2T>C
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1464dup (p.Asp489fs)
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.148G>T (p.Glu50Ter)
NM_000152.5(GAA):c.1519dup (p.His507fs)
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs)
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
NM_000152.5(GAA):c.1579del (p.Arg527fs)
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) rs1598582021
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1704dup (p.Tyr569fs)
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382
NM_000152.5(GAA):c.1755-1G>A
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs)
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999
NM_000152.5(GAA):c.1913G>T (p.Gly638Val)
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1976_1977del (p.Val659fs)
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)
NM_000152.5(GAA):c.199del (p.Asp67fs)
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.5(GAA):c.2040+1G>T rs1057516928
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) rs398123171
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938
NM_000152.5(GAA):c.2173del (p.Arg725fs)
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2432del (p.Leu811fs)
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2647-7G>A rs192679574
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.282del (p.Asp95fs)
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174
NM_000152.5(GAA):c.322T>A (p.Cys108Ser)
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.643G>T (p.Glu215Ter)
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.683dup (p.Arg229fs)
NM_000152.5(GAA):c.692+5G>T rs763027848
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.759_763del (p.Ser254fs)
NM_000152.5(GAA):c.759del (p.Ser254fs)
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.766_784del (p.Tyr256fs)
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs)
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)
NM_000154.2(GALK1):c.530del (p.Phe177fs)
NM_000154.2(GALK1):c.611+1G>T
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter)
NM_000154.2(GALK1):c.710del (p.Pro237fs)
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter)
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658
NM_000155.4(GALT):c.1A>G (p.Met1Val) rs111033639
NM_000155.4(GALT):c.252+1G>A rs768154316
NM_000155.4(GALT):c.253-2A>G rs111033661
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.359del (p.Lys120fs)
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.553C>T (p.Pro185Ser) rs111033826
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.790del (p.Leu264fs)
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
NM_000155.4(GALT):c.814del (p.Arg272fs)
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.821-7A>G rs767337193
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.899G>A (p.Trp300Ter) rs1064794295
NM_000155.4(GALT):c.904+1G>A
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
NM_000158.4(GBE1):c.1336-1G>A
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter)
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter)
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs)
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302
NM_000158.4(GBE1):c.202_203del (p.Lys68fs)
NM_000158.4(GBE1):c.216del (p.Tyr73fs)
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter)
NM_000158.4(GBE1):c.505del (p.Asp169fs)
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000158.4(GBE1):c.70del (p.Asp24fs)
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214
NM_000199.5(SGSH):c.1241_1242dup (p.Thr415fs)
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.402dup (p.Asp135Ter) rs1598749984
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) rs1598749661
NM_000199.5(SGSH):c.545G>A (p.Arg182His)
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.630G>A (p.Trp210Ter)
NM_000199.5(SGSH):c.642del (p.Tyr215fs)
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635
NM_000199.5(SGSH):c.757del (p.Val253fs)
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) rs1557338127
NM_000202.8(IDS):c.1115del (p.Glu372fs)
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1402del (p.Arg468fs)
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs)
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)
NM_000202.8(IDS):c.22C>T (p.Arg8Ter)
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His)
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter) rs1174495581
NM_000202.8(IDS):c.361C>T (p.Gln121Ter)
NM_000202.8(IDS):c.418+1G>C rs1602748255
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.458G>A (p.Trp153Ter)
NM_000202.8(IDS):c.507+1G>A
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.594_595del (p.Asp198fs)
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
NM_000202.8(IDS):c.653_654del (p.Pro218fs)
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) rs1569560489
NM_000202.8(IDS):c.708+1G>T
NM_000202.8(IDS):c.838_842del (p.Asn280fs)
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs) rs1602750400
NM_000202.8(IDS):c.984del (p.Ile329fs) rs1602734459
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
NM_000203.5(IDUA):c.1227dup (p.Thr410fs)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter) rs1356329915
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877
NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer)
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer) rs1577508778
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)
NM_000203.5(IDUA):c.1766del (p.Gly589fs)
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter) rs1577508801
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter)
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000203.5(IDUA):c.209del (p.Gln70fs)
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450
NM_000203.5(IDUA):c.242dup (p.His82fs)
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.306del (p.Thr103fs)
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.386-2A>G rs777295041
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.585dup (p.Gln196fs)
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)
NM_000203.5(IDUA):c.60del (p.Pro22fs)
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
NM_000203.5(IDUA):c.784del (p.His262fs)
NM_000203.5(IDUA):c.793-1G>A rs762779421
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960
NM_000203.5(IDUA):c.853del (p.Gln285fs)
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.87del (p.His30fs)
NM_000203.5(IDUA):c.882dup (p.Ile295fs)
NM_000203.5(IDUA):c.905del (p.Pro302fs)
NM_000203.5(IDUA):c.910del (p.Val304fs)
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter)
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter)
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs)
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) rs771151036
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
NM_000263.4(NAGLU):c.136del (p.Ala46fs)
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009
NM_000263.4(NAGLU):c.1453dup (p.Val485fs)
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.222_223del (p.Val75fs)
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) rs796052123
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter)
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter)
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs)
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter)
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs)
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs)
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer) rs1602231539
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000289.6(PFKM):c.1413-64A>G
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer) rs1592818641
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter)
NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter) rs1556007472
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter)
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) rs1601739229
NM_000292.3(PHKA2):c.1794-8_1812del rs1556000892
NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter) rs1569300538
NM_000292.3(PHKA2):c.2378_2379del (p.Thr793fs)
NM_000292.3(PHKA2):c.2465del (p.Leu822fs) rs1569298646
NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) rs1569297379
NM_000292.3(PHKA2):c.3325del (p.Thr1109fs)
NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) rs1601689006
NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter)
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000292.3(PHKA2):c.900_907del (p.Tyr301fs)
NM_000292.3(PHKA2):c.93del (p.Leu32fs)
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943
NM_000293.3(PHKB):c.2427+1045del
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)
NM_000294.3(PHKG2):c.250del (p.Val84fs) rs1567260747
NM_000294.3(PHKG2):c.318_319del (p.Val106_Phe107insTer) rs1555467052
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244
NM_000294.3(PHKG2):c.557-1_557delinsAG
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) rs1555467557
NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter)
NM_000308.3(CTSA):c.799T>A (p.Tyr267Asn) rs137854544
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
NM_000308.4(CTSA):c.991del (p.Cys331fs)
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
NM_000340.2(SLC2A2):c.239del (p.Pro80fs) rs769888108
NM_000340.2(SLC2A2):c.497-2A>G
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) rs1114167428
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs) rs1560035336
NM_000340.2(SLC2A2):c.963+1G>A rs371977235
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) rs1560033414
NM_000404.2(GLB1):c.245C>T rs72555393
NM_000404.2(GLB1):c.367G>A rs28934274
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro)
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358
NM_000404.4(GLB1):c.1479+1G>A rs1022476871
NM_000404.4(GLB1):c.1480-2A>G rs587776526
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter)
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.163del (p.Ile55fs) rs1575475703
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443
NM_000404.4(GLB1):c.1697C>A (p.Pro566His) rs1575410340
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392
NM_000404.4(GLB1):c.245+1G>A rs778423653
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051
NM_000404.4(GLB1):c.397-1G>A rs398123353
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000404.4(GLB1):c.473del (p.Val158fs)
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.531_534del (p.Gly178fs)
NM_000404.4(GLB1):c.553-1G>C rs1575459735
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.734-2A>G
NM_000404.4(GLB1):c.75+2dup rs587776525
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer) rs767704163
NM_000404.4(GLB1):c.900_903dup (p.Ser302fs)
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg)
NM_000404.4(GLB1):c.964_965del (p.Ser322fs)
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188
NM_000507.4(FBP1):c.544del (p.Val182fs)
NM_000507.4(FBP1):c.577G>T (p.Glu193Ter)
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1139+1G>A
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429
NM_000512.5(GALNS):c.118G>C (p.Asp40His)
NM_000512.5(GALNS):c.1192del (p.His398fs)
NM_000512.5(GALNS):c.120+1G>C
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.1279del (p.Val427fs)
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys)
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.498del (p.Phe167fs) rs772656696
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598
NM_000512.5(GALNS):c.604del (p.Glu202fs)
NM_000512.5(GALNS):c.711_714dup (p.Val239fs)
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448
NM_000512.5(GALNS):c.898+1G>A rs761850746
NM_000512.5(GALNS):c.899-2A>C
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs)
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs)
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs)
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs)
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1534del (p.Val512fs)
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs)
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs)
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs)
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs)
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
NM_000528.4(MAN2B1):c.437-1dup
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer)
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs)
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs)
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.3(AGL):c.1041dup (p.Val348fs)
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1102del (p.Glu368fs) rs1553185403
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter) rs1570433686
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128
NM_000642.3(AGL):c.1230_1233del (p.Gly411fs) rs1553185474
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs)
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1423+1G>C
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1505_1514del (p.Cys502fs)
NM_000642.3(AGL):c.1533dup (p.Tyr512fs) rs776733170
NM_000642.3(AGL):c.1537_1538del (p.Tyr512_Thr513insTer)
NM_000642.3(AGL):c.1565del (p.Gly522fs) rs1570438459
NM_000642.3(AGL):c.1571G>A (p.Arg524His)
NM_000642.3(AGL):c.158del (p.Pro53fs)
NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter) rs1188310172
NM_000642.3(AGL):c.1639C>T (p.Gln547Ter)
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
NM_000642.3(AGL):c.1692del (p.Asp564fs)
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.3(AGL):c.1717dup (p.Ile573fs)
NM_000642.3(AGL):c.1735+1G>T rs199922945
NM_000642.3(AGL):c.1735+1_1735+15del
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1900-2A>G
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
NM_000642.3(AGL):c.2001+5G>A rs1553186489
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_000642.3(AGL):c.2144del (p.Lys715fs)
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175
NM_000642.3(AGL):c.2346del (p.Ile782fs)
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter) rs1206517501
NM_000642.3(AGL):c.251dup (p.Asn84fs) rs756175624
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2681+1G>A rs201201443
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter) rs1239498701
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419
NM_000642.3(AGL):c.2793del (p.Lys932fs)
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
NM_000642.3(AGL):c.2823dup (p.Val942fs)
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter)
NM_000642.3(AGL):c.2963del (p.Leu988fs)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3014del (p.Cys1005fs)
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) rs774926455
NM_000642.3(AGL):c.3204_3205del (p.Tyr1068_Arg1069delinsTer) rs1553188832
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.328del (p.Asp110fs)
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3441del (p.Arg1147fs)
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter)
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131
NM_000642.3(AGL):c.3747dup (p.Gly1250fs)
NM_000642.3(AGL):c.3756dup (p.Arg1253fs)
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter)
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter)
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter)
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter)
NM_000642.3(AGL):c.4100del (p.Gly1367fs)
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4220_4221del (p.Lys1407fs)
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs)
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4270dup (p.Tyr1424fs)
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4347+1G>C
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter)
NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs) rs1557794150
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter) rs1480850606
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.525del (p.Ala176fs) rs1571232214
NM_000642.3(AGL):c.582del (p.Thr193_Trp194insTer)
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
NM_000642.3(AGL):c.609del (p.Lys203fs) rs1571232404
NM_000642.3(AGL):c.634del (p.Cys212fs)
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000642.3(AGL):c.671del (p.Asn224fs)
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)
NM_000642.3(AGL):c.716dup (p.Asn240fs)
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
NM_000642.3(AGL):c.939del (p.Phe313fs) rs760589837
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489
NM_000642.3(AGL):c.955C>T (p.Gln319Ter)
NM_000642.3(AGL):c.958+1G>A rs1553184657
NM_000642.3(AGL):c.958+1G>T
NM_000642.3(AGL):c.966dup (p.Arg323fs)
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)
NM_001040716.2(PC):c.1168dup (p.Asp390fs)
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs)
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs)
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2581del (p.Val861fs)
NM_001040716.2(PC):c.2953del (p.Leu985fs)
NM_001040716.2(PC):c.3102dup (p.Thr1035fs)
NM_001040716.2(PC):c.3288+1G>T
NM_001040716.2(PC):c.372_375del (p.Ala125fs) rs1565245427
NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491
NM_001164277.1(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.1(SLC37A4):c.1123+1G>C rs782630676
NM_001164277.1(SLC37A4):c.1179G>A (p.Trp393Ter)
NM_001164277.1(SLC37A4):c.170C>A (p.Ser57Ter) rs374848317
NM_001164277.1(SLC37A4):c.1A>G (p.Met1Val) rs786204740
NM_001164277.1(SLC37A4):c.217C>T (p.Gln73Ter)
NM_001164277.1(SLC37A4):c.381+1G>T rs786204637
NM_001164277.1(SLC37A4):c.443C>T (p.Ala148Val) rs193302879
NM_001164277.1(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892
NM_001164277.1(SLC37A4):c.529_533del
NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543
NM_001164277.1(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
NM_001164277.1(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)
NM_001164278.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001164278.2(SLC37A4):c.936dup (p.Val313fs) rs782172072
NM_001164279.2(SLC37A4):c.-172+132C>A rs1444468055
NM_001164279.2(SLC37A4):c.-172+77dup
NM_001164279.2(SLC37A4):c.-172+96_-172+99del rs1447366650
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) rs1601803431
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter)
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) rs1601779091
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327
NM_001352514.2(HLCS):c.1552del (p.Gly519fs)
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter)
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs796051977
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) rs1569218416
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-18del
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.282del (p.Ile95fs)
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter)
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_001467.6(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490
NM_001467.6(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001467.6(SLC37A4):c.345dup (p.Leu116fs) rs782604758
NM_001467.6(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489
NM_001467.6(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001467.6(SLC37A4):c.460del (p.Ile154fs) rs769726248
NM_001467.6(SLC37A4):c.495G>A (p.Trp165Ter)
NM_001467.6(SLC37A4):c.675C>A (p.Tyr225Ter)
NM_001467.6(SLC37A4):c.796_797del (p.Met266fs) rs1592111172
NM_001467.6(SLC37A4):c.927del (p.Gly310fs)
NM_001467.6(SLC37A4):c.929del (p.Gly310fs)
NM_001467.6(SLC37A4):c.958del (p.Arg319_Val320insTer)
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter) rs767402215
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter) rs119461975
NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer)
NM_002076.4(GNS):c.1414C>T (p.Gln472Ter)
NM_002076.4(GNS):c.355del (p.Ser119fs)
NM_002076.4(GNS):c.506G>A (p.Trp169Ter)
NM_002076.4(GNS):c.538A>T (p.Lys180Ter)
NM_002076.4(GNS):c.638del (p.Leu213fs)
NM_002076.4(GNS):c.887_888del (p.Leu296fs)
NM_002103.5(GYS1):c.1204del (p.Arg402fs) rs1568619900
NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter) rs561646250
NM_002103.5(GYS1):c.699_700del (p.Arg236fs)
NM_002103.5(GYS1):c.907C>T (p.Arg303Ter)
NM_002103.5(GYS1):c.913C>T (p.Gln305Ter)
NM_002294.3(LAMP2):c.1037del (p.Asn346fs)
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs)
NM_002294.3(LAMP2):c.34dup (p.Ser12fs)
NM_002294.3(LAMP2):c.64+1G>C
NM_002294.3(LAMP2):c.646G>T (p.Glu216Ter)
NM_002294.3(LAMP2):c.763_768delinsTGAAGT (p.Asn255_Pro256delinsTer)
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.929-197_1070del
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter) rs1256371424
NM_002863.5(PYGL):c.1620+1G>T
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter)
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315
NM_002863.5(PYGL):c.1768+1G>A rs113993982
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs)
NM_004130.3(GYG1):c.143+3G>C rs370652040
NM_004130.3(GYG1):c.154G>T (p.Glu52Ter) rs1559834349
NM_004130.4(GYG1):c.631del (p.Val211fs)
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
NM_005609.4(PYGM):c.112_122del (p.Phe38fs)
NM_005609.4(PYGM):c.1159del (p.Arg387fs)
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)
NM_005609.4(PYGM):c.1239+1G>A rs759657964
NM_005609.4(PYGM):c.129_150del (p.Asp43fs)
NM_005609.4(PYGM):c.1353dup (p.Ala452fs)
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208
NM_005609.4(PYGM):c.1403+1G>A
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1477del (p.Leu493fs)
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.1507del (p.Val503fs)
NM_005609.4(PYGM):c.1523del (p.Ile508fs)
NM_005609.4(PYGM):c.1531del (p.Asp511fs)
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter) rs1592410003
NM_005609.4(PYGM):c.164_168del (p.Ala55fs)
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter)
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.1768+1G>A rs771427957
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621
NM_005609.4(PYGM):c.1948del (p.Arg650fs)
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869
NM_005609.4(PYGM):c.2077dup (p.Met693fs)
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2181dup (p.Asn728fs)
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) rs770037766
NM_005609.4(PYGM):c.2255_2264dup (p.Gln755fs)
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter)
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.493_514del (p.Gly165fs)
NM_005609.4(PYGM):c.521del (p.Gly174fs)
NM_005609.4(PYGM):c.521dup (p.Trp175fs)
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter)
NM_005609.4(PYGM):c.682del (p.Asp228fs)
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
NM_006859.4(LIAS):c.212del (p.Gly71fs)
NM_006859.4(LIAS):c.266dup (p.Asn89fs)
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer) rs1553934069
NM_006859.4(LIAS):c.363del (p.Glu122fs) rs1553934199
NM_006859.4(LIAS):c.440dup (p.Thr148fs)
NM_006859.4(LIAS):c.649C>T (p.Arg217Ter)
NM_006859.4(LIAS):c.64dup (p.Cys22fs) rs960319940
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter)
NM_013995.2(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_013995.2(LAMP2):c.137G>A (p.Trp46Ter) rs1569371591
NM_013995.2(LAMP2):c.205_218del (p.His69fs) rs1602540152
NM_013995.2(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_013995.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_013995.2(LAMP2):c.546_548delinsTA (p.Ser183fs) rs1060502302
NM_013995.2(LAMP2):c.659dup (p.Gly221fs) rs1556101640
NM_013995.2(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_013995.2(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_013995.2(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_013995.2(LAMP2):c.864+3_864+6del rs397516751
NM_013995.2(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_013995.2(LAMP2):c.973dup (p.Leu325fs) rs1556092459
NM_016203.4(PRKAG2):c.1588C>G (p.His530Asp)
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile)
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) rs146140738
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter) rs768131676
NM_018297.4(NGLY1):c.1449del (p.Cys484fs)
NM_018297.4(NGLY1):c.1515del (p.Arg506fs)
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter) rs528583612
NM_018297.4(NGLY1):c.1748G>A (p.Trp583Ter)
NM_018297.4(NGLY1):c.1771C>T (p.Gln591Ter)
NM_018297.4(NGLY1):c.177del (p.Ala60fs)
NM_018297.4(NGLY1):c.726dup (p.His243fs)
NM_018297.4(NGLY1):c.857_873del (p.Cys286fs) rs1375323331
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter) rs772994617
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter) rs755009745
NM_018297.4(NGLY1):c.999C>A (p.Tyr333Ter)
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) rs146195866
NM_021957.4(GYS2):c.122-8_141del rs746120293
NM_021957.4(GYS2):c.465del (p.Phe155fs)
NM_021957.4(GYS2):c.495+1G>T rs372079212
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_021957.4(GYS2):c.925C>T (p.Arg309Ter) rs267603422
NM_021957.4(GYS2):c.941+1G>C rs587776831
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter) rs780854072
NM_031229.4(RBCK1):c.1308+1G>T rs1555787903
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter) rs1568554654
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter)
NM_031229.4(RBCK1):c.518del (p.Pro173fs)
NM_031229.4(RBCK1):c.582+1G>C rs1017046170
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs)
NM_031229.4(RBCK1):c.663del (p.Glu222fs)
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter) rs587777561
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter)
NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter) rs1575517577
NM_033159.4(HYAL1):c.238_239del (p.Gly80fs)
NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter)
NM_033159.4(HYAL1):c.44del (p.Leu15fs)
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter)
NM_033159.4(HYAL1):c.691del (p.Gln231fs)
NM_033159.4(HYAL1):c.707G>A (p.Trp236Ter)
NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter)
NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter)
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter)
NM_152419.3(HGSNAT):c.1054_1055insATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA (p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer)
NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter) rs954238515
NM_152419.3(HGSNAT):c.111del (p.Pro38fs)
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter)
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)
NM_152419.3(HGSNAT):c.133dup (p.Arg45fs)
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs)
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1508dup (p.Leu504fs)
NM_152419.3(HGSNAT):c.150del (p.Met51fs)
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) rs1586698317
NM_152419.3(HGSNAT):c.234+1G>A rs483352908
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934
NM_152419.3(HGSNAT):c.372-2A>G rs483352896
NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter)
NM_152419.3(HGSNAT):c.493+1G>A rs193066451
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) rs1563366896
NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter)
NM_152419.3(HGSNAT):c.682_740del (p.Pro228fs)
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.852-1G>A rs1447092074
NM_152419.3(HGSNAT):c.852-2A>C rs755710040
NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Ser296_Met297insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer)
NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter) rs372933126

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