ClinVar Miner

List of variants studied for mucopolysaccharidosis type 4A by Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 439
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_000512.5(GALNS):c.759-67G>A rs565875595 0.00305
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.887C>T (p.Ala296Val) rs200371805 0.00006
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu) rs769748679 0.00003
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705 0.00003
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys) rs886039377 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326 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_000512.5(GALNS):c.1052C>T (p.Ala351Val) rs761386453 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.1157G>A (p.Arg386His) rs1221167717 0.00002
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429 0.00002
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu) rs542835085 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.498del (p.Phe167fs) rs772656696 0.00002
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs) rs1468285336 0.00002
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp) rs146963745 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys) rs759590432 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_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter) rs767131589 0.00001
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn) rs373739301 0.00001
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.121-31T>C rs776895500 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.1240C>T (p.Gln414Ter) rs757870208 0.00001
NM_000512.5(GALNS):c.1319del (p.Leu440fs) rs1567517083 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 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.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.1492C>T (p.Pro498Ser) rs1454253268 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe) rs398123433 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.1A>G (p.Met1Val) rs771531650 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.244T>C (p.Ser82Pro) rs1338871013 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.278T>A (p.Ile93Asn) rs1966993165 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.320-1G>T rs1245504167 0.00001
NM_000512.5(GALNS):c.376G>T (p.Glu126Ter) rs1177468816 0.00001
NM_000512.5(GALNS):c.406A>C (p.Lys136Gln) rs750953060 0.00001
NM_000512.5(GALNS):c.422G>A (p.Trp141Ter) rs746862066 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.551G>A (p.Trp184Ter) rs779545826 0.00001
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111 0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226 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.758G>A (p.Arg253Gln) rs769560969 0.00001
NM_000512.5(GALNS):c.759-3C>G rs776430057 0.00001
NM_000512.5(GALNS):c.763G>A (p.Gly255Arg) rs1336648211 0.00001
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr) rs773283163 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.898+1G>A rs761850746 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000512.5(GALNS):c.899-1G>C rs745523154 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg) rs556060696 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NC_000016.10:g.(88810557_88811549)_(88841972_88842705)del
NC_000016.10:g.(?_88813734)_(88841972_88842705)del
NC_000016.10:g.(?_88813734)_(88856758_?)del
NC_000016.10:g.88770428_88832724del
NC_000016.10:g.88779266_88827672del
NM_000512.4(GALNS):c.413T>C (p.Val138Ala) rs118204436
NM_000512.5(GALNS):c.-1_6delinsT (p.Met1_Ala2del) rs2143013673
NM_000512.5(GALNS):c.-42G>T rs1433642862
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805
NM_000512.5(GALNS):c.1002+307G>C rs866140272
NM_000512.5(GALNS):c.1003-2A>C rs1344555845
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.1009del (p.His337fs) rs2142995881
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del) rs794726887
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg) rs2142995871
NM_000512.5(GALNS):c.1027A>T (p.Met343Leu) rs1910977435
NM_000512.5(GALNS):c.1030G>A (p.Asp344Asn) rs2142995864
NM_000512.5(GALNS):c.1032C>G (p.Asp344Glu) rs1407467035
NM_000512.5(GALNS):c.1034T>C (p.Leu345Pro) rs2142995853
NM_000512.5(GALNS):c.1038C>A (p.Phe346Leu) rs766504053
NM_000512.5(GALNS):c.1042A>G (p.Thr348Ala) rs1597547797
NM_000512.5(GALNS):c.1043C>A (p.Thr348Asn) rs368305568
NM_000512.5(GALNS):c.1046del (p.Ser349fs) rs2142995845
NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro) rs2142995830
NM_000512.5(GALNS):c.1058C>A (p.Ala353Glu) rs774113183
NM_000512.5(GALNS):c.1070del (p.Pro357fs) rs2142995810
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro) rs755832705
NM_000512.5(GALNS):c.1082G>T (p.Arg361Met) rs2142995799
NM_000512.5(GALNS):c.1094G>T (p.Gly365Val) rs2142995782
NM_000512.5(GALNS):c.1097T>C (p.Leu366Pro) rs971227692
NM_000512.5(GALNS):c.1106T>C (p.Leu369Pro) rs2142995771
NM_000512.5(GALNS):c.1114del (p.Leu372fs) rs2142995760
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter) rs761455237
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly) rs770908172
NM_000512.5(GALNS):c.1139+1G>A rs765608680
NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr) rs2142995734
NM_000512.5(GALNS):c.1140G>T (p.Arg380Ser) rs200763834
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg) rs2142993896
NM_000512.5(GALNS):c.1142del (p.Pro381fs) rs746086649
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter) rs1426905479
NM_000512.5(GALNS):c.1156C>A (p.Arg386Ser) rs118204437
NM_000512.5(GALNS):c.1159G>A (p.Gly387Ser) rs1910641750
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr) rs2143013504
NM_000512.5(GALNS):c.1168del (p.Thr389_Leu390insTer) rs2142993865
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro) rs2142993863
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.1177_1178insT (p.Ala393fs) rs2142993846
NM_000512.5(GALNS):c.1180A>C (p.Thr394Pro) rs2142993839
NM_000512.5(GALNS):c.1183C>G (p.Leu395Val) rs767701478
NM_000512.5(GALNS):c.1184T>C (p.Leu395Pro) rs1227964288
NM_000512.5(GALNS):c.1188del (p.Gln397fs) rs2142993827
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn) rs1967935603
NM_000512.5(GALNS):c.1192C>G (p.His398Asp) rs1910635964
NM_000512.5(GALNS):c.1192del (p.His398fs) rs1910636198
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg) rs1267791852
NM_000512.5(GALNS):c.1196del (p.Lys399fs) rs2142993816
NM_000512.5(GALNS):c.119A>G (p.Asp40Gly) rs1967935467
NM_000512.5(GALNS):c.120+1G>A rs911877265
NM_000512.5(GALNS):c.120+1G>C rs911877265
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr) rs2142993806
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1]) rs1567519128
NM_000512.5(GALNS):c.1209_1210delinsTT (p.Trp403_Thr404delinsCysSer) rs2142993802
NM_000512.5(GALNS):c.121-1G>A rs1312522259
NM_000512.5(GALNS):c.121-1G>C rs1312522259
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.121-9T>G rs2143005573
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.1221C>G (p.Asn407Lys) rs2142993785
NM_000512.5(GALNS):c.1226G>C (p.Trp409Ser) rs2142993782
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000512.5(GALNS):c.1243-1G>A rs1597535277
NM_000512.5(GALNS):c.1243-1G>C rs1597535277
NM_000512.5(GALNS):c.1244G>T (p.Gly415Val) rs2142992416
NM_000512.5(GALNS):c.1258C>T (p.Pro420Ser) rs1341980746
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1259del (p.Pro420fs) rs2142992407
NM_000512.5(GALNS):c.125G>A (p.Gly42Glu) rs2143005560
NM_000512.5(GALNS):c.1261G>A (p.Gly421Arg) rs2142992406
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu) rs2142992401
NM_000512.5(GALNS):c.1264C>A (p.Gln422Lys) rs1295162107
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter) rs1295162107
NM_000512.5(GALNS):c.1275del (p.Val427fs) rs2142992383
NM_000512.5(GALNS):c.1290_1291del (p.His430fs) rs2142992359
NM_000512.5(GALNS):c.131G>T (p.Gly44Val) rs1237852382
NM_000512.5(GALNS):c.1334G>A (p.Gly445Glu) rs2142992321
NM_000512.5(GALNS):c.1349A>G (p.Glu450Gly) rs2142992313
NM_000512.5(GALNS):c.1349A>T (p.Glu450Val) rs2142992313
NM_000512.5(GALNS):c.134A>G (p.Asp45Gly) rs1967040455
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu) rs398123432
NM_000512.5(GALNS):c.1355dup (p.Leu454fs) rs1472489567
NM_000512.5(GALNS):c.1361T>C (p.Leu454Pro) rs2142992298
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.1365-1G>A rs1909832718
NM_000512.5(GALNS):c.139G>C (p.Gly47Arg) rs199638097
NM_000512.5(GALNS):c.1408T>C (p.Ser470Pro) rs2142982603
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter) rs118204439
NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter) rs1330564240
NM_000512.5(GALNS):c.1423C>A (p.His475Asn) rs749297663
NM_000512.5(GALNS):c.1427A>C (p.Gln476Pro) rs1597524240
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del) rs1909818289
NM_000512.5(GALNS):c.142G>A (p.Val48Met) rs1377186614
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.1450C>T (p.Pro484Ser) rs1204485789
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu) rs1482155729
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser) rs118204440
NM_000512.5(GALNS):c.1460A>T (p.Asn487Ile) rs118204440
NM_000512.5(GALNS):c.1461C>A (p.Asn487Lys) rs1273463889
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1482+1G>A rs2142982054
NM_000512.5(GALNS):c.1482+5G>A rs2142982032
NM_000512.5(GALNS):c.1483-2A>G rs2142967340
NM_000512.5(GALNS):c.148G>A (p.Gly50Arg) rs2143005530
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys) rs1303492021
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs) rs753053516
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg) rs1567509070
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys) rs1296755011
NM_000512.5(GALNS):c.1523T>C (p.Leu508Pro) rs2142967000
NM_000512.5(GALNS):c.154_165del (p.Pro52_Glu55del) rs2143005515
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.1560G>A (p.Trp520Ter) rs2142966686
NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln) rs1348149236
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu) rs1348149236
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp) rs2142966615
NM_000512.5(GALNS):c.158C>T (p.Ser53Phe) rs1421990673
NM_000512.5(GALNS):c.190_191delinsAT (p.Ala64Ile) rs2143005495
NM_000512.5(GALNS):c.196G>C (p.Gly66Arg) rs1967035346
NM_000512.5(GALNS):c.205T>G (p.Phe69Val) rs118204445
NM_000512.5(GALNS):c.210_221del (p.Asn71_Ser74del) rs2143005478
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.221C>T (p.Ser74Phe) rs2143005475
NM_000512.5(GALNS):c.224C>G (p.Ala75Gly) rs2143005473
NM_000512.5(GALNS):c.228C>G (p.Asn76Lys) rs147599478
NM_000512.5(GALNS):c.229C>T (p.Pro77Ser) rs201278722
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.235_236del (p.Cys79fs) rs2143005467
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr) rs1263679818
NM_000512.5(GALNS):c.239C>G (p.Ser80Trp) rs1209154325
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.244+1G>T rs2143005452
NM_000512.5(GALNS):c.245-11C>G rs552476248
NM_000512.5(GALNS):c.245-2A>G rs1352162269
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu) rs141340188
NM_000512.5(GALNS):c.253G>A (p.Ala85Thr) rs2143005122
NM_000512.5(GALNS):c.257T>C (p.Leu86Pro) rs2143005116
NM_000512.5(GALNS):c.260T>C (p.Leu87Pro) rs1418948853
NM_000512.5(GALNS):c.263C>T (p.Thr88Ile) rs2143005111
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter) rs1160480473
NM_000512.5(GALNS):c.268C>G (p.Arg90Gly) rs1028668536
NM_000512.5(GALNS):c.272T>C (p.Leu91Pro) rs2143005099
NM_000512.5(GALNS):c.274C>T (p.Pro92Ser) rs2143005097
NM_000512.5(GALNS):c.278T>C (p.Ile93Thr) rs1966993165
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.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.287G>T (p.Gly96Val) rs1966992597
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.296C>T (p.Thr99Ile) rs2143005081
NM_000512.5(GALNS):c.298A>C (p.Thr100Pro) rs1597581827
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter) rs1967945316
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.317A>G (p.Asn106Ser) rs2143005070
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.319G>C (p.Ala107Pro) rs763184657
NM_000512.5(GALNS):c.319G>T (p.Ala107Ser) rs763184657
NM_000512.5(GALNS):c.323A>G (p.Tyr108Cys) rs1256041500
NM_000512.5(GALNS):c.326C>T (p.Thr109Ile) rs2143004681
NM_000512.5(GALNS):c.332A>G (p.Gln111Arg) rs2143004671
NM_000512.5(GALNS):c.334del (p.Glu112fs) rs2143004665
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) rs1444754604
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.363G>C (p.Glu121Asp) rs780986116
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.398A>C (p.Tyr133Ser) rs1379268067
NM_000512.5(GALNS):c.3G>A (p.Met1Ile) rs2143013681
NM_000512.5(GALNS):c.405C>G (p.Ser135Arg) rs2143004605
NM_000512.5(GALNS):c.405_422+1del rs398123437
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.416G>A (p.Gly139Asp) rs2143004596
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.422+1G>A rs1966940003
NM_000512.5(GALNS):c.422+2_422+8del rs764529662
NM_000512.5(GALNS):c.422+2dup rs2143004586
NM_000512.5(GALNS):c.423-1G>A rs2143002474
NM_000512.5(GALNS):c.423G>T (p.Trp141Cys) rs2143002473
NM_000512.5(GALNS):c.424C>A (p.His142Asn) rs2143002472
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>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.425A>T (p.His142Leu) rs1288895691
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.433C>T (p.His145Tyr) rs577334837
NM_000512.5(GALNS):c.43C>A (p.Leu15Met) rs866745731
NM_000512.5(GALNS):c.442C>T (p.Gln148Ter) rs2143002464
NM_000512.5(GALNS):c.448C>T (p.His150Tyr) rs1168278189
NM_000512.5(GALNS):c.451C>T (p.Pro151Ser) rs781439830
NM_000512.5(GALNS):c.452C>G (p.Pro151Arg) rs559063128
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.467T>C (p.Phe156Ser) rs1301146300
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.473_477del (p.Glu158fs) rs2143002427
NM_000512.5(GALNS):c.477G>T (p.Trp159Cys) rs398123439
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.482G>A (p.Gly161Glu) rs2143002420
NM_000512.5(GALNS):c.488C>A (p.Pro163His) rs2143002411
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser) rs761725425
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr) rs768757999
NM_000512.5(GALNS):c.497A>G (p.His166Arg) rs2143002394
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.501dup (p.Gly168fs) rs2143002383
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter) rs775732598
NM_000512.5(GALNS):c.502_503delinsTT (p.Gly168Leu) rs2143002376
NM_000512.5(GALNS):c.503G>T (p.Gly168Val) rs2143002375
NM_000512.5(GALNS):c.508T>C (p.Tyr170His) rs2143002372
NM_000512.5(GALNS):c.512A>C (p.Asp171Ala) rs2143002367
NM_000512.5(GALNS):c.529A>C (p.Asn177His) rs2143002349
NM_000512.5(GALNS):c.530A>G (p.Asn177Ser) rs2143002347
NM_000512.5(GALNS):c.532_533del (p.Ile178fs) rs2143002345
NM_000512.5(GALNS):c.535C>T (p.Pro179Ser) rs2143002341
NM_000512.5(GALNS):c.536C>A (p.Pro179His) rs1912278519
NM_000512.5(GALNS):c.536C>T (p.Pro179Leu) rs1912278519
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.554A>G (p.Glu185Gly) rs2143002324
NM_000512.5(GALNS):c.554del (p.Glu185fs) rs2143002326
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.563G>A (p.Gly188Asp) rs2143002315
NM_000512.5(GALNS):c.567-1G>T rs143428106
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp) rs2143001744
NM_000512.5(GALNS):c.572A>G (p.Tyr191Cys) rs2143001742
NM_000512.5(GALNS):c.604del (p.Glu202fs) rs1382823339
NM_000512.5(GALNS):c.608C>T (p.Ala203Val) rs2143001722
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.627C>G (p.Tyr209Ter) rs2143001706
NM_000512.5(GALNS):c.631C>T (p.Gln211Ter) rs1912124497
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.676T>C (p.Phe226Leu) rs1375452799
NM_000512.5(GALNS):c.67G>C (p.Gly23Arg) rs2143013593
NM_000512.5(GALNS):c.680del (p.Phe227fs) rs2143001415
NM_000512.5(GALNS):c.686A>C (p.Tyr229Ser) rs554190546
NM_000512.5(GALNS):c.688T>G (p.Trp230Gly) rs2143001411
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) rs118204449
NM_000512.5(GALNS):c.690G>T (p.Trp230Cys) rs2143001410
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.706C>G (p.His236Asp) rs1228027865
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.708del (p.His236fs) rs2143001400
NM_000512.5(GALNS):c.715G>T (p.Val239Phe) rs145131011
NM_000512.5(GALNS):c.722C>A (p.Ala241Asp) rs2143001386
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys) rs2143001380
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976
NM_000512.5(GALNS):c.758+1G>C rs1363382746
NM_000512.5(GALNS):c.758+4A>T rs2143001351
NM_000512.5(GALNS):c.759-2A>G rs2143001213
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys) rs2143001210
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter) rs770815269
NM_000512.5(GALNS):c.775C>G (p.Arg259Gly) rs61742258
NM_000512.5(GALNS):c.778G>A (p.Glu260Lys) rs2143001194
NM_000512.5(GALNS):c.77dup (p.Ala27fs) rs2143013573
NM_000512.5(GALNS):c.780G>C (p.Glu260Asp) rs2143001191
NM_000512.5(GALNS):c.791G>C (p.Ser264Thr) rs2143001182
NM_000512.5(GALNS):c.812T>C (p.Leu271Pro) rs1912001607
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del) rs1567530426
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.85C>T (p.Gln29Ter) rs1287332192
NM_000512.5(GALNS):c.863A>G (p.Asp288Gly) rs2143001134
NM_000512.5(GALNS):c.863del (p.Asp288fs) rs2143001135
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp) rs1314520034
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387
NM_000512.5(GALNS):c.868G>C (p.Gly290Arg) rs975409254
NM_000512.5(GALNS):c.869G>A (p.Gly290Asp) rs1214775986
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.872C>A (p.Ala291Asp) rs2143001123
NM_000512.5(GALNS):c.874del (p.Ala292fs) rs2143001121
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter) rs2143001103
NM_000512.5(GALNS):c.899-167A>G rs2142999330
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.899-397_1003-1862del
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys) rs751446283
NM_000512.5(GALNS):c.911G>A (p.Gly304Asp) rs758439379
NM_000512.5(GALNS):c.916T>G (p.Phe306Val) rs2142999207
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser) rs759590432
NM_000512.5(GALNS):c.919C>A (p.Leu307Met) rs2142999203
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000512.5(GALNS):c.922T>C (p.Cys308Arg) rs2142999197
NM_000512.5(GALNS):c.925G>A (p.Gly309Arg) rs2142999191
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn) rs377285422
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala) rs2142999186
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser) rs2142999186
NM_000512.5(GALNS):c.937A>G (p.Thr313Ala) rs2142999184
NM_000512.5(GALNS):c.940T>G (p.Phe314Val) rs774781295
NM_000512.5(GALNS):c.943G>A (p.Glu315Lys) rs2142999177
NM_000512.5(GALNS):c.943G>C (p.Glu315Gln) rs2142999177
NM_000512.5(GALNS):c.947G>T (p.Gly316Val) rs1057518404
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696
NM_000512.5(GALNS):c.94A>G (p.Asn32Asp) rs2143013538
NM_000512.5(GALNS):c.950G>A (p.Gly317Glu) rs2142999169
NM_000512.5(GALNS):c.951dup (p.Met318fs) rs2142999166
NM_000512.5(GALNS):c.956G>C (p.Arg319Thr) rs377744312
NM_000512.5(GALNS):c.958G>A (p.Glu320Lys) rs2142999156
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr) rs773933657
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro) rs1597559500
NM_000512.5(GALNS):c.971C>A (p.Ala324Glu) rs2142999148
NM_000512.5(GALNS):c.973TGG[1] (p.Trp326del) rs2142999135
NM_000512.5(GALNS):c.974G>A (p.Trp325Ter) rs2142999142
NM_000512.5(GALNS):c.975G>T (p.Trp325Cys) rs1269110043
NM_000512.5(GALNS):c.977G>C (p.Trp326Ser) rs2142999137
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter) rs1911558912
NM_000512.5(GALNS):c.985C>A (p.His329Asn) rs766548318
NM_000512.5(GALNS):c.[1140-730_1365-1530del;121-2779_567-248del]
NM_000512.5:c.(120+1_121-1)_(244+1_245-1)del
NM_000512.5:c.(1242+1_1243-1)_(1364+1_1365-1)del
NM_000512.5:c.(1364+1_1365-1)_(1482+1_1483-1)del
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)del
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)dup
NM_000512.5:c.567_1002dup
Single allele

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