NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)
|
rs749989641
|
0.00005
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)
|
rs369090960
|
0.00003
|
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)
|
rs755832705
|
0.00003
|
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)
|
rs118204447
|
0.00003
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)
|
rs149239881
|
0.00003
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)
|
rs763184657
|
0.00002
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
NM_000046.5(ARSB):c.245del (p.Leu82fs)
|
rs750845916
|
0.00001
|
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)
|
rs118203942
|
0.00001
|
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter)
|
rs1554088099
|
0.00001
|
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)
|
rs118203939
|
0.00001
|
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)
|
rs746206847
|
0.00001
|
NM_000046.5(ARSB):c.691-1G>A
|
rs778868348
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)
|
rs373739301
|
0.00001
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
NM_000512.5(GALNS):c.121A>T (p.Met41Leu)
|
rs1283377907
|
0.00001
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
NM_000512.5(GALNS):c.1483-1G>A
|
rs1223848239
|
0.00001
|
NM_000512.5(GALNS):c.1483-1G>C
|
rs1223848239
|
0.00001
|
NM_000512.5(GALNS):c.1A>G (p.Met1Val)
|
rs771531650
|
0.00001
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)
|
rs781439830
|
0.00001
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
0.00001
|
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)
|
rs753051547
|
0.00001
|
NM_000512.5(GALNS):c.706C>T (p.His236Tyr)
|
rs1228027865
|
0.00001
|
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)
|
rs752039956
|
0.00001
|
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)
|
rs1199639828
|
0.00001
|
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
|
rs775300515
|
0.00001
|
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
NM_000512.5(GALNS):c.898+1G>C
|
rs761850746
|
0.00001
|
NC_000016.10:g.88779266_88827672del
|
|
|
NM_000046.4(ARSB):c.313-7412_690+1601del
|
|
|
NM_000046.4:c.(312+1_313-1_690+1_691-1)del
|
|
|
NM_000046.5(ARSB):c.1048A>T (p.Ile350Phe)
|
rs79970603
|
|
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)
|
rs756671977
|
|
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro)
|
rs1554079284
|
|
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)
|
rs1028653411
|
|
NM_000046.5(ARSB):c.1127T>A (p.Val376Glu)
|
rs1554079268
|
|
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter)
|
rs1554079265
|
|
NM_000046.5(ARSB):c.1142+2T>A
|
rs781510986
|
|
NM_000046.5(ARSB):c.1143-8T>G
|
rs431905496
|
|
NM_000046.5(ARSB):c.114del (p.Ala39fs)
|
rs1554032252
|
|
NM_000046.5(ARSB):c.1161dup (p.Arg388fs)
|
rs1554074135
|
|
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys)
|
rs1554074132
|
|
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)
|
rs200793396
|
|
NM_000046.5(ARSB):c.1214-2A>G
|
rs1554069808
|
|
NM_000046.5(ARSB):c.1279del (p.Thr427fs)
|
rs1554069791
|
|
NM_000046.5(ARSB):c.1286dup (p.His430fs)
|
rs1554069786
|
|
NM_000046.5(ARSB):c.1289A>G (p.His430Arg)
|
rs1171277553
|
|
NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter)
|
rs769996056
|
|
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)
|
rs1209412483
|
|
NM_000046.5(ARSB):c.1415T>C (p.Leu472Pro)
|
rs1211360114
|
|
NM_000046.5(ARSB):c.1475del (p.Pro492fs)
|
rs1554069669
|
|
NM_000046.5(ARSB):c.1482del (p.Ile494fs)
|
rs1554069668
|
|
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)
|
rs774358117
|
|
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter)
|
rs1554032222
|
|
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)
|
rs771113472
|
|
NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter)
|
rs1251438062
|
|
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)
|
rs1554032217
|
|
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)
|
rs1554032216
|
|
NM_000046.5(ARSB):c.176A>T (p.Asp59Val)
|
rs1179935748
|
|
NM_000046.5(ARSB):c.207_213dup (p.Leu72fs)
|
rs1554032160
|
|
NM_000046.5(ARSB):c.219del (p.Asp73fs)
|
rs1554032153
|
|
NM_000046.5(ARSB):c.223_232del (p.Leu75fs)
|
rs1554032145
|
|
NM_000046.5(ARSB):c.237_243del (p.Val80fs)
|
rs1554032134
|
|
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)
|
rs749465732
|
|
NM_000046.5(ARSB):c.247_248del (p.Asp83fs)
|
rs1554032131
|
|
NM_000046.5(ARSB):c.253T>C (p.Tyr85His)
|
rs1554032129
|
|
NM_000046.5(ARSB):c.263dup (p.Pro89fs)
|
rs1554032118
|
|
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)
|
rs1554032094
|
|
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln)
|
rs1554032090
|
|
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)
|
rs1554032090
|
|
NM_000046.5(ARSB):c.375dup (p.Glu126Ter)
|
rs1554088081
|
|
NM_000046.5(ARSB):c.395T>C (p.Leu132Pro)
|
rs1554088079
|
|
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)
|
rs757061042
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
|
NM_000046.5(ARSB):c.509T>G (p.Leu170Arg)
|
rs1484763838
|
|
NM_000046.5(ARSB):c.511G>A (p.Gly171Ser)
|
rs1554087445
|
|
NM_000046.5(ARSB):c.532C>G (p.His178Asp)
|
rs1554087441
|
|
NM_000046.5(ARSB):c.533A>T (p.His178Leu)
|
rs1554087439
|
|
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)
|
rs1554087423
|
|
NM_000046.5(ARSB):c.630_636del (p.Met209_Tyr210insTer)
|
rs1554087406
|
|
NM_000046.5(ARSB):c.659_660del (p.Ile220fs)
|
rs1554087395
|
|
NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs)
|
rs1554086417
|
|
NM_000046.5(ARSB):c.750_754delinsCCTGAAGTCAAG (p.Glu250fs)
|
rs1554086417
|
|
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)
|
rs1554086414
|
|
NM_000046.5(ARSB):c.785dup (p.Asn262fs)
|
rs749015246
|
|
NM_000046.5(ARSB):c.883_884dup (p.Ile296fs)
|
rs1554086370
|
|
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn)
|
rs1554086368
|
|
NM_000046.5(ARSB):c.903C>G (p.Asn301Lys)
|
rs147495977
|
|
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)
|
rs1408739927
|
|
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)
|
rs891298440
|
|
NM_000046.5(ARSB):c.995T>G (p.Val332Gly)
|
rs1554079312
|
|
NM_000199.5(SGSH):c.1097del (p.Ser366fs)
|
rs1598738720
|
|
NM_000199.5(SGSH):c.1147del (p.His383fs)
|
rs1598738369
|
|
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn)
|
rs1598758001
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro)
|
rs782347729
|
|
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp)
|
rs1602725543
|
|
NM_000202.8(IDS):c.359C>G (p.Pro120Arg)
|
rs193302911
|
|
NM_000202.8(IDS):c.592G>A (p.Asp198Asn)
|
rs193302904
|
|
NM_000202.8(IDS):c.708G>A (p.Lys236=)
|
rs1602742620
|
|
NM_000202.8(IDS):c.811A>T (p.Arg271Trp)
|
rs1602740912
|
|
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)
|
rs368454909
|
|
NM_000203.5(IDUA):c.1727+1G>A
|
rs1577544451
|
|
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)
|
rs1599253805
|
|
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)
|
rs1559401428
|
|
NM_000512.5(GALNS):c.1003-2A>C
|
rs1344555845
|
|
NM_000512.5(GALNS):c.1009del (p.His337fs)
|
rs2142995881
|
|
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg)
|
rs2142995871
|
|
NM_000512.5(GALNS):c.1046del (p.Ser349fs)
|
rs2142995845
|
|
NM_000512.5(GALNS):c.1070del (p.Pro357fs)
|
rs2142995810
|
|
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)
|
rs1426905479
|
|
NM_000512.5(GALNS):c.1188del (p.Gln397fs)
|
rs2142993827
|
|
NM_000512.5(GALNS):c.1196del (p.Lys399fs)
|
rs2142993816
|
|
NM_000512.5(GALNS):c.121-1G>C
|
rs1312522259
|
|
NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter)
|
rs2142993795
|
|
NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)
|
rs2142993793
|
|
NM_000512.5(GALNS):c.1243-1G>A
|
rs1597535277
|
|
NM_000512.5(GALNS):c.1243-1G>C
|
rs1597535277
|
|
NM_000512.5(GALNS):c.1275del (p.Val427fs)
|
rs2142992383
|
|
NM_000512.5(GALNS):c.1290_1291del (p.His430fs)
|
rs2142992359
|
|
NM_000512.5(GALNS):c.1355dup (p.Leu454fs)
|
rs1472489567
|
|
NM_000512.5(GALNS):c.1365-1G>A
|
rs1909832718
|
|
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)
|
rs191519947
|
|
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter)
|
rs2142982313
|
|
NM_000512.5(GALNS):c.1483-2A>G
|
rs2142967340
|
|
NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs)
|
rs753053516
|
|
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys)
|
rs1296755011
|
|
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)
|
rs1348149236
|
|
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)
|
rs398123435
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr)
|
rs1263679818
|
|
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
NM_000512.5(GALNS):c.242C>T (p.Pro81Leu)
|
rs2143005457
|
|
NM_000512.5(GALNS):c.245-2A>G
|
rs1352162269
|
|
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)
|
rs1160480473
|
|
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)
|
rs118204441
|
|
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)
|
rs727503946
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
NM_000512.5(GALNS):c.347G>T (p.Gly116Val)
|
rs1966945369
|
|
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)
|
rs911452920
|
|
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
|
rs746949976
|
|
NM_000512.5(GALNS):c.385A>T (p.Lys129Ter)
|
rs2143004624
|
|
NM_000512.5(GALNS):c.409_420del (p.Ile137_Lys140del)
|
rs2143004592
|
|
NM_000512.5(GALNS):c.409_422+5del
|
rs2143004580
|
|
NM_000512.5(GALNS):c.422+1G>A
|
rs1966940003
|
|
NM_000512.5(GALNS):c.423-1G>A
|
rs2143002474
|
|
NM_000512.5(GALNS):c.424_566+1del
|
rs2143002309
|
|
NM_000512.5(GALNS):c.425A>C (p.His142Pro)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.433C>T (p.His145Tyr)
|
rs577334837
|
|
NM_000512.5(GALNS):c.473_477del (p.Glu158fs)
|
rs2143002427
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr)
|
rs768757999
|
|
NM_000512.5(GALNS):c.501dup (p.Gly168fs)
|
rs2143002383
|
|
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter)
|
rs775732598
|
|
NM_000512.5(GALNS):c.532_533del (p.Ile178fs)
|
rs2143002345
|
|
NM_000512.5(GALNS):c.554del (p.Glu185fs)
|
rs2143002326
|
|
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr)
|
rs569725936
|
|
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)
|
rs118204435
|
|
NM_000512.5(GALNS):c.634-1G>A
|
rs2143001463
|
|
NM_000512.5(GALNS):c.634-1G>T
|
rs2143001463
|
|
NM_000512.5(GALNS):c.658C>T (p.Gln220Ter)
|
rs1456807949
|
|
NM_000512.5(GALNS):c.680del (p.Phe227fs)
|
rs2143001415
|
|
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)
|
rs398123440
|
|
NM_000512.5(GALNS):c.707A>C (p.His236Pro)
|
rs398123441
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
|
NM_000512.5(GALNS):c.759-2A>G
|
rs2143001213
|
|
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter)
|
rs770815269
|
|
NM_000512.5(GALNS):c.77dup (p.Ala27fs)
|
rs2143013573
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)
|
rs1465096387
|
|
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter)
|
rs2143001103
|
|
NM_000512.5(GALNS):c.899-2A>G
|
rs1165218506
|
|
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala)
|
rs2142999186
|
|
NM_000512.5(GALNS):c.951dup (p.Met318fs)
|
rs2142999166
|
|
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter)
|
rs1911558912
|
|
NM_000512.5:c.(1242+1_1243-1)_(1364+1_1365-1)del
|
|
|
NM_000512.5:c.567_1002dup
|
|
|