NM_033159.4(HYAL1):c.*492C>T
|
rs1283
|
0.06762
|
NM_153281.2(HYAL1):c.-132G>A
|
rs12488302
|
0.04741
|
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg)
|
rs116482870
|
0.04448
|
NM_153281.2(HYAL1):c.-414G>A
|
rs587609136
|
0.01280
|
NM_153281.2(HYAL1):c.-271G>A
|
rs115085570
|
0.01118
|
NM_033159.4(HYAL1):c.384C>T (p.Ile128=)
|
rs116097974
|
0.01056
|
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp)
|
rs74342080
|
0.01054
|
NM_153281.2(HYAL1):c.-240A>G
|
rs12634784
|
0.00726
|
NM_033159.4(HYAL1):c.*221T>C
|
rs192692460
|
0.00675
|
NM_153281.2(HYAL1):c.-272C>T
|
rs139571382
|
0.00643
|
NM_153281.2(HYAL1):c.-319T>C
|
rs1429084988
|
0.00618
|
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly)
|
rs142342237
|
0.00617
|
NM_033159.4(HYAL1):c.323G>A (p.Arg108His)
|
rs56962018
|
0.00357
|
NM_033159.4(HYAL1):c.*173T>C
|
rs184872974
|
0.00250
|
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met)
|
rs117179004
|
0.00208
|
NM_153281.2(HYAL1):c.-320_-319del
|
rs782640837
|
0.00162
|
NM_153281.2(HYAL1):c.-241C>A
|
rs12631938
|
0.00087
|
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr)
|
rs143176318
|
0.00082
|
NM_033159.4(HYAL1):c.*434C>T
|
rs182987423
|
0.00076
|
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser)
|
rs138951582
|
0.00066
|
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)
|
rs147678727
|
0.00046
|
NM_033159.4(HYAL1):c.*459G>A
|
rs150976767
|
0.00024
|
NM_033159.4(HYAL1):c.141C>T (p.His47=)
|
rs147089930
|
0.00024
|
NM_153281.2(HYAL1):c.-395G>A
|
rs886058699
|
0.00019
|
NM_153281.2(HYAL1):c.-89G>A
|
rs141540659
|
0.00019
|
NM_033159.4(HYAL1):c.600C>A (p.Gly200=)
|
rs374928005
|
0.00016
|
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
|
rs369935445
|
0.00013
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
NM_033159.4(HYAL1):c.1281G>A (p.Pro427=)
|
rs782573040
|
0.00011
|
NM_033159.4(HYAL1):c.1201C>T (p.Arg401Trp)
|
rs202067357
|
0.00009
|
NM_033159.4(HYAL1):c.981A>G (p.Thr327=)
|
rs146431309
|
0.00008
|
NM_153281.2(HYAL1):c.-90C>T
|
rs886058694
|
0.00008
|
NM_033159.4(HYAL1):c.1050C>T (p.Asn350=)
|
rs148913295
|
0.00007
|
NM_033159.4(HYAL1):c.936C>T (p.Ala312=)
|
rs375213606
|
0.00007
|
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln)
|
rs374011925
|
0.00006
|
NM_033159.4(HYAL1):c.587G>A (p.Arg196His)
|
rs782200654
|
0.00006
|
NM_033159.4(HYAL1):c.906G>A (p.Glu302=)
|
rs372594999
|
0.00006
|
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)
|
rs377272298
|
0.00005
|
NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser)
|
rs1346505806
|
0.00005
|
NM_033159.4(HYAL1):c.846G>A (p.Pro282=)
|
rs782094366
|
0.00005
|
NM_033159.4(HYAL1):c.1188G>T (p.Gly396=)
|
rs781878519
|
0.00004
|
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln)
|
rs368957453
|
0.00004
|
NM_033159.4(HYAL1):c.14T>C (p.Leu5Pro)
|
rs138329304
|
0.00004
|
NM_033159.4(HYAL1):c.258G>A (p.Thr86=)
|
rs1185256255
|
0.00004
|
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser)
|
rs587637619
|
0.00004
|
NM_033159.4(HYAL1):c.483T>C (p.Asp161=)
|
rs368360137
|
0.00004
|
NM_153281.2(HYAL1):c.-191+15A>G
|
rs886058695
|
0.00004
|
NM_033159.4(HYAL1):c.108G>C (p.Trp36Cys)
|
rs782450263
|
0.00003
|
NM_033159.4(HYAL1):c.1146T>C (p.Leu382=)
|
rs1259207908
|
0.00003
|
NM_033159.4(HYAL1):c.201C>T (p.Arg67=)
|
rs781862008
|
0.00003
|
NM_033159.4(HYAL1):c.321C>G (p.Ala107=)
|
rs374789186
|
0.00003
|
NM_033159.4(HYAL1):c.588C>T (p.Arg196=)
|
rs782601965
|
0.00003
|
NM_033159.4(HYAL1):c.618C>T (p.Asp206=)
|
rs782079716
|
0.00003
|
NM_033159.4(HYAL1):c.771G>A (p.Lys257=)
|
rs781943397
|
0.00003
|
NM_033159.4(HYAL1):c.1209C>T (p.Ala403=)
|
rs1553712428
|
0.00002
|
NM_033159.4(HYAL1):c.171T>C (p.Asp57=)
|
rs587709776
|
0.00002
|
NM_033159.4(HYAL1):c.219T>C (p.Ile73=)
|
rs782696394
|
0.00002
|
NM_033159.4(HYAL1):c.231C>T (p.Ser77=)
|
rs781826964
|
0.00002
|
NM_033159.4(HYAL1):c.276G>A (p.Val92=)
|
rs373545891
|
0.00002
|
NM_033159.4(HYAL1):c.408C>A (p.Arg136=)
|
rs782343934
|
0.00002
|
NM_033159.4(HYAL1):c.449G>A (p.Arg150His)
|
rs782788446
|
0.00002
|
NM_033159.4(HYAL1):c.570G>A (p.Gly190=)
|
rs782343493
|
0.00002
|
NM_033159.4(HYAL1):c.615T>C (p.Pro205=)
|
rs782722149
|
0.00002
|
NM_033159.4(HYAL1):c.734G>A (p.Ser245Asn)
|
rs376502179
|
0.00002
|
NM_033159.4(HYAL1):c.747C>T (p.Pro249=)
|
rs139187462
|
0.00002
|
NM_033159.4(HYAL1):c.915C>T (p.His305=)
|
rs1290078379
|
0.00002
|
NM_033159.4(HYAL1):c.987C>G (p.Thr329=)
|
rs368220900
|
0.00002
|
NM_033159.4(HYAL1):c.-5G>A
|
rs368638384
|
0.00001
|
NM_033159.4(HYAL1):c.1044C>T (p.Ile348=)
|
rs372595265
|
0.00001
|
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
|
rs782279681
|
0.00001
|
NM_033159.4(HYAL1):c.1092C>T (p.Ser364=)
|
rs782610786
|
0.00001
|
NM_033159.4(HYAL1):c.1098T>C (p.His366=)
|
rs1702096627
|
0.00001
|
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His)
|
rs587595632
|
0.00001
|
NM_033159.4(HYAL1):c.1128C>T (p.Pro376=)
|
rs781894836
|
0.00001
|
NM_033159.4(HYAL1):c.1280C>T (p.Pro427Leu)
|
rs782298295
|
0.00001
|
NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp)
|
rs782616691
|
0.00001
|
NM_033159.4(HYAL1):c.12C>T (p.His4=)
|
rs202199091
|
0.00001
|
NM_033159.4(HYAL1):c.159C>T (p.Val53=)
|
rs1428586805
|
0.00001
|
NM_033159.4(HYAL1):c.189G>A (p.Gly63=)
|
rs1553713387
|
0.00001
|
NM_033159.4(HYAL1):c.200G>A (p.Arg67His)
|
rs782491043
|
0.00001
|
NM_033159.4(HYAL1):c.204C>T (p.Gly68=)
|
rs375395138
|
0.00001
|
NM_033159.4(HYAL1):c.222C>T (p.Phe74=)
|
rs1559820613
|
0.00001
|
NM_033159.4(HYAL1):c.252C>T (p.Tyr84=)
|
rs782128403
|
0.00001
|
NM_033159.4(HYAL1):c.27C>T (p.Cys9=)
|
rs781916060
|
0.00001
|
NM_033159.4(HYAL1):c.28G>A (p.Ala10Thr)
|
rs782713825
|
0.00001
|
NM_033159.4(HYAL1):c.327A>G (p.Thr109=)
|
rs1553713301
|
0.00001
|
NM_033159.4(HYAL1):c.355G>T (p.Ala119Ser)
|
rs587647302
|
0.00001
|
NM_033159.4(HYAL1):c.408C>T (p.Arg136=)
|
rs782343934
|
0.00001
|
NM_033159.4(HYAL1):c.463G>T (p.Val155Leu)
|
rs1473371417
|
0.00001
|
NM_033159.4(HYAL1):c.48C>T (p.Leu16=)
|
rs377440947
|
0.00001
|
NM_033159.4(HYAL1):c.498G>A (p.Gln166=)
|
rs200077067
|
0.00001
|
NM_033159.4(HYAL1):c.539G>A (p.Arg180Gln)
|
rs782751421
|
0.00001
|
NM_033159.4(HYAL1):c.543C>T (p.Ala181=)
|
rs782012779
|
0.00001
|
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)
|
rs781838448
|
0.00001
|
NM_033159.4(HYAL1):c.654C>T (p.Thr218=)
|
rs782051318
|
0.00001
|
NM_033159.4(HYAL1):c.663C>T (p.Cys221=)
|
rs374889084
|
0.00001
|
NM_033159.4(HYAL1):c.694C>T (p.Leu232=)
|
rs1553713126
|
0.00001
|
NM_033159.4(HYAL1):c.699G>A (p.Gly233=)
|
rs200718831
|
0.00001
|
NM_033159.4(HYAL1):c.69G>A (p.Arg23=)
|
rs1553713459
|
0.00001
|
NM_033159.4(HYAL1):c.726C>G (p.Leu242=)
|
rs781796869
|
0.00001
|
NM_033159.4(HYAL1):c.738C>T (p.Ile246=)
|
rs1391982334
|
0.00001
|
NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter)
|
rs782355058
|
0.00001
|
NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter)
|
rs782240278
|
0.00001
|
NM_033159.4(HYAL1):c.796G>A (p.Val266Met)
|
rs782299729
|
0.00001
|
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)
|
rs104893743
|
0.00001
|
NM_033159.4(HYAL1):c.84C>T (p.Pro28=)
|
rs782588575
|
0.00001
|
NM_033159.4(HYAL1):c.873T>C (p.Tyr291=)
|
rs1239417242
|
0.00001
|
NM_033159.4(HYAL1):c.879G>A (p.Thr293=)
|
rs1553713033
|
0.00001
|
NM_033159.4(HYAL1):c.901-8C>A
|
rs1402365646
|
0.00001
|
NM_033159.4(HYAL1):c.909G>A (p.Leu303=)
|
rs1354541662
|
0.00001
|
NM_033159.4(HYAL1):c.933G>A (p.Ala311=)
|
rs200373793
|
0.00001
|
NM_033159.4(HYAL1):c.952G>A (p.Val318Met)
|
rs1553712745
|
0.00001
|
NM_033159.4(HYAL1):c.991-8C>G
|
rs781831071
|
0.00001
|
NC_000003.11:g.(?_50338409)_(50341042_?)del
|
|
|
NC_000003.11:g.(?_50339478)_(50341042_?)del
|
|
|
NC_000003.11:g.(?_50340112)_(50342638_?)del
|
|
|
NM_033159.4(HYAL1):c.*106G>C
|
rs903056291
|
|
NM_033159.4(HYAL1):c.*333C>G
|
rs1702060462
|
|
NM_033159.4(HYAL1):c.1005C>T (p.Ala335=)
|
|
|
NM_033159.4(HYAL1):c.1014G>A (p.Glu338=)
|
|
|
NM_033159.4(HYAL1):c.1017T>C (p.Tyr339=)
|
rs2109302970
|
|
NM_033159.4(HYAL1):c.102C>G (p.Thr34=)
|
rs373591585
|
|
NM_033159.4(HYAL1):c.102C>T (p.Thr34=)
|
rs373591585
|
|
NM_033159.4(HYAL1):c.1030C>T (p.Leu344=)
|
rs1239924466
|
|
NM_033159.4(HYAL1):c.1038C>G (p.Pro346=)
|
|
|
NM_033159.4(HYAL1):c.103G>A (p.Val35Ile)
|
|
|
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
|
rs782279681
|
|
NM_033159.4(HYAL1):c.104T>A (p.Val35Asp)
|
|
|
NM_033159.4(HYAL1):c.104del (p.Val35fs)
|
rs2109309063
|
|
NM_033159.4(HYAL1):c.1056C>T (p.Thr352=)
|
|
|
NM_033159.4(HYAL1):c.1058G>A (p.Ser353Asn)
|
|
|
NM_033159.4(HYAL1):c.1071C>T (p.Leu357=)
|
|
|
NM_033159.4(HYAL1):c.1084C>T (p.Leu362=)
|
rs1702098144
|
|
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser)
|
rs1702097712
|
|
NM_033159.4(HYAL1):c.10C>T (p.His4Tyr)
|
|
|
NM_033159.4(HYAL1):c.1103G>A (p.Arg368His)
|
|
|
NM_033159.4(HYAL1):c.110_134dup (p.Arg46fs)
|
|
|
NM_033159.4(HYAL1):c.1110C>A (p.Val370=)
|
|
|
NM_033159.4(HYAL1):c.1110C>G (p.Val370=)
|
|
|
NM_033159.4(HYAL1):c.1111C>T (p.Arg371Cys)
|
|
|
NM_033159.4(HYAL1):c.111T>C (p.Asn37=)
|
|
|
NM_033159.4(HYAL1):c.1125C>T (p.His375=)
|
|
|
NM_033159.4(HYAL1):c.1137C>T (p.Leu379=)
|
|
|
NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe)
|
rs782055404
|
|
NM_033159.4(HYAL1):c.1144_1146del (p.Leu382del)
|
|
|
NM_033159.4(HYAL1):c.1155C>T (p.Ala385=)
|
|
|
NM_033159.4(HYAL1):c.1156A>T (p.Ser386Cys)
|
rs781999703
|
|
NM_033159.4(HYAL1):c.1159T>G (p.Phe387Val)
|
|
|
NM_033159.4(HYAL1):c.1173C>T (p.Leu391=)
|
rs2109302277
|
|
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
|
rs587680396
|
|
NM_033159.4(HYAL1):c.1176G>C (p.Thr392=)
|
rs587680396
|
|
NM_033159.4(HYAL1):c.1177C>G (p.Pro393Ala)
|
|
|
NM_033159.4(HYAL1):c.1197C>T (p.Ser399=)
|
rs1553712441
|
|
NM_033159.4(HYAL1):c.1198C>T (p.Leu400=)
|
rs989449756
|
|
NM_033159.4(HYAL1):c.1202G>A (p.Arg401Gln)
|
|
|
NM_033159.4(HYAL1):c.1203G>T (p.Arg401=)
|
rs2109302089
|
|
NM_033159.4(HYAL1):c.1204G>C (p.Gly402Arg)
|
|
|
NM_033159.4(HYAL1):c.1209C>G (p.Ala403=)
|
rs1553712428
|
|
NM_033159.4(HYAL1):c.120C>G (p.Thr40=)
|
rs782749500
|
|
NM_033159.4(HYAL1):c.1212C>G (p.Leu404=)
|
rs1702084252
|
|
NM_033159.4(HYAL1):c.1230A>G (p.Ala410=)
|
|
|
NM_033159.4(HYAL1):c.1230A>T (p.Ala410=)
|
|
|
NM_033159.4(HYAL1):c.1231C>T (p.Gln411Ter)
|
|
|
NM_033159.4(HYAL1):c.1245G>A (p.Glu415=)
|
rs1702083003
|
|
NM_033159.4(HYAL1):c.1264C>A (p.Pro422Thr)
|
|
|
NM_033159.4(HYAL1):c.1267G>A (p.Gly423Ser)
|
|
|
NM_033159.4(HYAL1):c.1269C>A (p.Gly423=)
|
|
|
NM_033159.4(HYAL1):c.1299C>T (p.Ser433=)
|
|
|
NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter)
|
rs1575517577
|
|
NM_033159.4(HYAL1):c.142G>A (p.Gly48Ser)
|
|
|
NM_033159.4(HYAL1):c.147G>A (p.Val49=)
|
|
|
NM_033159.4(HYAL1):c.151G>A (p.Val51Met)
|
|
|
NM_033159.4(HYAL1):c.155A>G (p.Asp52Gly)
|
|
|
NM_033159.4(HYAL1):c.156T>A (p.Asp52Glu)
|
|
|
NM_033159.4(HYAL1):c.15G>C (p.Leu5=)
|
rs1702232203
|
|
NM_033159.4(HYAL1):c.169G>A (p.Asp57Asn)
|
|
|
NM_033159.4(HYAL1):c.190C>T (p.Gln64Ter)
|
|
|
NM_033159.4(HYAL1):c.201del (p.Gly68fs)
|
|
|
NM_033159.4(HYAL1):c.203G>A (p.Gly68Asp)
|
|
|
NM_033159.4(HYAL1):c.206C>G (p.Pro69Arg)
|
|
|
NM_033159.4(HYAL1):c.219T>A (p.Ile73=)
|
rs782696394
|
|
NM_033159.4(HYAL1):c.21C>T (p.Pro7=)
|
|
|
NM_033159.4(HYAL1):c.221del (p.Phe74fs)
|
|
|
NM_033159.4(HYAL1):c.221dup (p.Tyr75fs)
|
rs1450097579
|
|
NM_033159.4(HYAL1):c.227G>T (p.Ser76Ile)
|
rs1221211075
|
|
NM_033159.4(HYAL1):c.235C>T (p.Leu79=)
|
|
|
NM_033159.4(HYAL1):c.238_239del (p.Gly80fs)
|
rs782636282
|
|
NM_033159.4(HYAL1):c.239G>T (p.Gly80Val)
|
|
|
NM_033159.4(HYAL1):c.24C>T (p.Ile8=)
|
rs370239620
|
|
NM_033159.4(HYAL1):c.250del (p.Tyr84fs)
|
|
|
NM_033159.4(HYAL1):c.255C>T (p.Tyr85=)
|
rs2109308586
|
|
NM_033159.4(HYAL1):c.261C>T (p.Pro87=)
|
rs942837278
|
|
NM_033159.4(HYAL1):c.267G>A (p.Gly89=)
|
rs587724757
|
|
NM_033159.4(HYAL1):c.267G>C (p.Gly89=)
|
rs587724757
|
|
NM_033159.4(HYAL1):c.268del (p.Glu90fs)
|
|
|
NM_033159.4(HYAL1):c.288G>T (p.Leu96=)
|
rs2109308488
|
|
NM_033159.4(HYAL1):c.297T>G (p.Asn99Lys)
|
rs782638873
|
|
NM_033159.4(HYAL1):c.30C>T (p.Ala10=)
|
|
|
NM_033159.4(HYAL1):c.312C>G (p.Ala104=)
|
|
|
NM_033159.4(HYAL1):c.315C>G (p.His105Gln)
|
|
|
NM_033159.4(HYAL1):c.318G>T (p.Leu106=)
|
rs782692193
|
|
NM_033159.4(HYAL1):c.322C>T (p.Arg108Cys)
|
|
|
NM_033159.4(HYAL1):c.327A>T (p.Thr109=)
|
|
|
NM_033159.4(HYAL1):c.332A>G (p.Gln111Arg)
|
rs781865734
|
|
NM_033159.4(HYAL1):c.345_348dup (p.Ile117fs)
|
|
|
NM_033159.4(HYAL1):c.348C>T (p.Ala116=)
|
|
|
NM_033159.4(HYAL1):c.363C>T (p.Asp121=)
|
rs2109308228
|
|
NM_033159.4(HYAL1):c.36C>T (p.Phe12=)
|
rs2109309315
|
|
NM_033159.4(HYAL1):c.370G>A (p.Gly124Arg)
|
|
|
NM_033159.4(HYAL1):c.383T>C (p.Ile128Thr)
|
|
|
NM_033159.4(HYAL1):c.387C>T (p.Asp129=)
|
|
|
NM_033159.4(HYAL1):c.390G>A (p.Trp130Ter)
|
|
|
NM_033159.4(HYAL1):c.397T>C (p.Trp133Arg)
|
rs1471550375
|
|
NM_033159.4(HYAL1):c.400C>T (p.Arg134Cys)
|
|
|
NM_033159.4(HYAL1):c.401G>C (p.Arg134Pro)
|
|
|
NM_033159.4(HYAL1):c.406C>T (p.Arg136Cys)
|
|
|
NM_033159.4(HYAL1):c.407G>A (p.Arg136His)
|
rs376279134
|
|
NM_033159.4(HYAL1):c.408C>G (p.Arg136=)
|
rs782343934
|
|
NM_033159.4(HYAL1):c.410G>A (p.Trp137Ter)
|
|
|
NM_033159.4(HYAL1):c.417C>T (p.Phe139=)
|
|
|
NM_033159.4(HYAL1):c.420C>T (p.Asn140=)
|
rs782291492
|
|
NM_033159.4(HYAL1):c.432G>A (p.Lys144=)
|
|
|
NM_033159.4(HYAL1):c.43T>C (p.Leu15=)
|
rs1702231251
|
|
NM_033159.4(HYAL1):c.440del (p.Tyr147fs)
|
|
|
NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter)
|
rs1702209886
|
|
NM_033159.4(HYAL1):c.443G>A (p.Arg148Gln)
|
rs144539557
|
|
NM_033159.4(HYAL1):c.445C>T (p.Gln149Ter)
|
rs1702209367
|
|
NM_033159.4(HYAL1):c.448C>T (p.Arg150Cys)
|
|
|
NM_033159.4(HYAL1):c.44del (p.Leu15fs)
|
rs1553713469
|
|
NM_033159.4(HYAL1):c.454C>A (p.Arg152=)
|
rs587774476
|
|
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)
|
rs587774476
|
|
NM_033159.4(HYAL1):c.455G>A (p.Arg152Gln)
|
rs781929111
|
|
NM_033159.4(HYAL1):c.49G>C (p.Asp17His)
|
|
|
NM_033159.4(HYAL1):c.4del (p.Ala2fs)
|
|
|
NM_033159.4(HYAL1):c.504G>A (p.Glu168=)
|
rs1553713217
|
|
NM_033159.4(HYAL1):c.516G>A (p.Gln172=)
|
rs2109307766
|
|
NM_033159.4(HYAL1):c.521_524dup (p.Phe175fs)
|
rs2109307739
|
|
NM_033159.4(HYAL1):c.523T>C (p.Phe175Leu)
|
|
|
NM_033159.4(HYAL1):c.528G>A (p.Gln176=)
|
|
|
NM_033159.4(HYAL1):c.534T>C (p.Ala178=)
|
|
|
NM_033159.4(HYAL1):c.537A>T (p.Ala179=)
|
|
|
NM_033159.4(HYAL1):c.540G>A (p.Arg180=)
|
rs2109307682
|
|
NM_033159.4(HYAL1):c.545G>A (p.Trp182Ter)
|
|
|
NM_033159.4(HYAL1):c.546G>A (p.Trp182Ter)
|
rs1553713200
|
|
NM_033159.4(HYAL1):c.547A>G (p.Met183Val)
|
|
|
NM_033159.4(HYAL1):c.551C>T (p.Ala184Val)
|
rs1225771471
|
|
NM_033159.4(HYAL1):c.564G>A (p.Gln188=)
|
|
|
NM_033159.4(HYAL1):c.571C>A (p.Arg191=)
|
rs143791794
|
|
NM_033159.4(HYAL1):c.572G>A (p.Arg191Gln)
|
|
|
NM_033159.4(HYAL1):c.573G>A (p.Arg191=)
|
|
|
NM_033159.4(HYAL1):c.586C>T (p.Arg196Cys)
|
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
|
NM_033159.4(HYAL1):c.597G>A (p.Trp199Ter)
|
|
|
NM_033159.4(HYAL1):c.599del (p.Gly200fs)
|
|
|
NM_033159.4(HYAL1):c.600C>T (p.Gly200=)
|
rs374928005
|
|
NM_033159.4(HYAL1):c.605A>G (p.Tyr202Cys)
|
|
|
NM_033159.4(HYAL1):c.612C>T (p.Phe204=)
|
rs781783393
|
|
NM_033159.4(HYAL1):c.615T>G (p.Pro205=)
|
|
|
NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter)
|
rs1702200130
|
|
NM_033159.4(HYAL1):c.621C>T (p.Cys207=)
|
|
|
NM_033159.4(HYAL1):c.627C>T (p.Asn209=)
|
|
|
NM_033159.4(HYAL1):c.637C>T (p.Leu213=)
|
rs782132370
|
|
NM_033159.4(HYAL1):c.639A>G (p.Leu213=)
|
rs1559819460
|
|
NM_033159.4(HYAL1):c.63C>A (p.Gly21=)
|
|
|
NM_033159.4(HYAL1):c.651C>T (p.Tyr217=)
|
rs2109307304
|
|
NM_033159.4(HYAL1):c.655G>A (p.Gly219Ser)
|
|
|
NM_033159.4(HYAL1):c.658C>T (p.Gln220Ter)
|
|
|
NM_033159.4(HYAL1):c.663_670dup (p.Gly224fs)
|
rs1702197212
|
|
NM_033159.4(HYAL1):c.666A>G (p.Pro222=)
|
rs1366454491
|
|
NM_033159.4(HYAL1):c.669A>G (p.Ser223=)
|
rs939067401
|
|
NM_033159.4(HYAL1):c.676C>A (p.Arg226Ser)
|
|
|
NM_033159.4(HYAL1):c.691del (p.Gln231fs)
|
rs1553713128
|
|
NM_033159.4(HYAL1):c.697G>C (p.Gly233Arg)
|
|
|
NM_033159.4(HYAL1):c.705G>A (p.Leu235=)
|
|
|
NM_033159.4(HYAL1):c.707G>A (p.Trp236Ter)
|
rs2109307152
|
|
NM_033159.4(HYAL1):c.71G>T (p.Gly24Val)
|
|
|
NM_033159.4(HYAL1):c.734G>C (p.Ser245Thr)
|
|
|
NM_033159.4(HYAL1):c.735C>T (p.Ser245=)
|
|
|
NM_033159.4(HYAL1):c.748G>A (p.Ala250Thr)
|
|
|
NM_033159.4(HYAL1):c.751_787delinsTTCCGTGTGGCCCG (p.Val251fs)
|
rs1553713075
|
|
NM_033159.4(HYAL1):c.753G>A (p.Val251=)
|
rs2109307030
|
|
NM_033159.4(HYAL1):c.75C>G (p.Pro25=)
|
|
|
NM_033159.4(HYAL1):c.765A>G (p.Thr255=)
|
rs2109307002
|
|
NM_033159.4(HYAL1):c.768G>C (p.Gly256=)
|
|
|
NM_033159.4(HYAL1):c.774A>G (p.Ser258=)
|
rs1363657470
|
|
NM_033159.4(HYAL1):c.775C>T (p.Gln259Ter)
|
|
|
NM_033159.4(HYAL1):c.783T>C (p.Tyr261=)
|
rs2109306923
|
|
NM_033159.4(HYAL1):c.789A>G (p.Gln263=)
|
rs1702190189
|
|
NM_033159.4(HYAL1):c.792C>T (p.His264=)
|
|
|
NM_033159.4(HYAL1):c.801C>G (p.Ala267=)
|
|
|
NM_033159.4(HYAL1):c.801C>T (p.Ala267=)
|
rs149438911
|
|
NM_033159.4(HYAL1):c.81del (p.Asn29fs)
|
rs781974681
|
|
NM_033159.4(HYAL1):c.825T>G (p.Ala275=)
|
|
|
NM_033159.4(HYAL1):c.827C>T (p.Ala276Val)
|
|
|
NM_033159.4(HYAL1):c.834C>T (p.Asp278=)
|
|
|
NM_033159.4(HYAL1):c.837C>G (p.Pro279=)
|
rs2109306714
|
|
NM_033159.4(HYAL1):c.837C>T (p.Pro279=)
|
rs2109306714
|
|
NM_033159.4(HYAL1):c.846G>C (p.Pro282=)
|
rs782094366
|
|
NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser)
|
rs902728091
|
|
NM_033159.4(HYAL1):c.855C>G (p.Pro285=)
|
rs2109306638
|
|
NM_033159.4(HYAL1):c.85_88dup (p.Arg30fs)
|
|
|
NM_033159.4(HYAL1):c.872A>G (p.Tyr291Cys)
|
|
|
NM_033159.4(HYAL1):c.876C>T (p.Asp292=)
|
|
|
NM_033159.4(HYAL1):c.886C>G (p.His296Asp)
|
|
|
NM_033159.4(HYAL1):c.88C>T (p.Arg30Trp)
|
|
|
NM_033159.4(HYAL1):c.899del (p.Leu300fs)
|
|
|
NM_033159.4(HYAL1):c.900+10C>G
|
|
|
NM_033159.4(HYAL1):c.900+14A>T
|
|
|
NM_033159.4(HYAL1):c.900+16C>A
|
|
|
NM_033159.4(HYAL1):c.900+16C>G
|
|
|
NM_033159.4(HYAL1):c.900+17C>T
|
|
|
NM_033159.4(HYAL1):c.900+18T>G
|
|
|
NM_033159.4(HYAL1):c.900+1G>A
|
|
|
NM_033159.4(HYAL1):c.900G>C (p.Leu300=)
|
|
|
NM_033159.4(HYAL1):c.901-13G>A
|
|
|
NM_033159.4(HYAL1):c.901-16G>A
|
|
|
NM_033159.4(HYAL1):c.901-20C>T
|
rs2109304533
|
|
NM_033159.4(HYAL1):c.901-7T>C
|
|
|
NM_033159.4(HYAL1):c.90G>A (p.Arg30=)
|
rs2109309118
|
|
NM_033159.4(HYAL1):c.919C>T (p.Leu307=)
|
rs587687583
|
|
NM_033159.4(HYAL1):c.921G>A (p.Leu307=)
|
rs782200873
|
|
NM_033159.4(HYAL1):c.931G>A (p.Ala311Thr)
|
|
|
NM_033159.4(HYAL1):c.933G>C (p.Ala311=)
|
|
|
NM_033159.4(HYAL1):c.936C>G (p.Ala312=)
|
rs375213606
|
|
NM_033159.4(HYAL1):c.937C>T (p.Gln313Ter)
|
rs2109304251
|
|
NM_033159.4(HYAL1):c.943dup (p.Ala315fs)
|
|
|
NM_033159.4(HYAL1):c.954G>A (p.Val318=)
|
rs2109304145
|
|
NM_033159.4(HYAL1):c.957G>A (p.Val319=)
|
|
|
NM_033159.4(HYAL1):c.958C>A (p.Leu320Ile)
|
rs1553712742
|
|
NM_033159.4(HYAL1):c.966G>A (p.Val322=)
|
rs1467161408
|
|
NM_033159.4(HYAL1):c.969C>T (p.Ser323=)
|
rs978042622
|
|
NM_033159.4(HYAL1):c.987C>A (p.Thr329=)
|
|
|
NM_033159.4(HYAL1):c.990+12C>T
|
|
|
NM_033159.4(HYAL1):c.990+15G>A
|
|
|
NM_033159.4(HYAL1):c.990+19T>A
|
|
|
NM_033159.4(HYAL1):c.991-11T>A
|
|
|
NM_033159.4(HYAL1):c.991-20T>C
|
|
|
NM_033159.4(HYAL1):c.991-5C>T
|
|
|
NM_033159.4(HYAL1):c.991-6A>C
|
|
|
NM_033159.4(HYAL1):c.996A>C (p.Ser332=)
|
|
|
NM_033159.4(HYAL1):c.996A>G (p.Ser332=)
|
|
|
NM_033159.4(HYAL1):c.99C>A (p.Thr33=)
|
|
|
NM_153281.2(HYAL1):c.-237A>T
|
rs1702408973
|
|
NM_153281.2(HYAL1):c.-310+12dup
|
rs886058696
|
|
NM_153281.2(HYAL1):c.-384G>A
|
rs886058698
|
|