NM_153006.3(NAGS):c.1451+9T>C
|
rs228773
|
0.93334
|
NM_153006.3(NAGS):c.916-57T>C
|
rs228770
|
0.91995
|
NM_153006.3(NAGS):c.*211C>T
|
rs640631
|
0.86592
|
NM_153006.3(NAGS):c.*3C>T
|
rs186636
|
0.54224
|
NM_153006.3(NAGS):c.1096+20C>G
|
rs228771
|
0.28327
|
NM_153006.3(NAGS):c.1086T>C (p.Phe362=)
|
rs55708447
|
0.16339
|
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly)
|
rs113134544
|
0.01375
|
NM_153006.3(NAGS):c.284C>T (p.Pro95Leu)
|
rs200607114
|
0.00480
|
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)
|
rs371886833
|
0.00210
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
NM_153006.3(NAGS):c.1368C>G (p.Ser456=)
|
rs147700427
|
0.00184
|
NM_153006.3(NAGS):c.1268+11G>A
|
rs201629145
|
0.00183
|
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn)
|
rs140481641
|
0.00135
|
NM_153006.3(NAGS):c.612A>G (p.Val204=)
|
rs139907815
|
0.00134
|
NM_153006.3(NAGS):c.426+19G>A
|
rs368844914
|
0.00110
|
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)
|
rs150004962
|
0.00068
|
NM_153006.3(NAGS):c.*90G>A
|
rs567905267
|
0.00055
|
NM_153006.3(NAGS):c.246G>A (p.Pro82=)
|
rs747154237
|
0.00033
|
NM_153006.3(NAGS):c.210C>G (p.Ser70=)
|
rs570583859
|
0.00019
|
NM_153006.3(NAGS):c.1234C>T (p.Arg412Cys)
|
rs201703838
|
0.00013
|
NM_153006.3(NAGS):c.1096+8C>T
|
rs371563014
|
0.00012
|
NM_153006.3(NAGS):c.939C>T (p.Pro313=)
|
rs749692636
|
0.00012
|
NM_153006.3(NAGS):c.1188C>T (p.Asn396=)
|
rs374040892
|
0.00009
|
NM_153006.3(NAGS):c.1274A>G (p.Asn425Ser)
|
rs752635329
|
0.00009
|
NM_153006.3(NAGS):c.1452-11C>T
|
rs371793544
|
0.00009
|
NM_153006.3(NAGS):c.299C>G (p.Ser100Trp)
|
rs764150659
|
0.00009
|
NM_153006.3(NAGS):c.30G>C (p.Leu10=)
|
rs530353203
|
0.00009
|
NM_153006.3(NAGS):c.414C>T (p.Phe138=)
|
rs535765680
|
0.00009
|
NM_153006.3(NAGS):c.715G>A (p.Val239Ile)
|
rs143427275
|
0.00009
|
NM_153006.3(NAGS):c.912T>C (p.His304=)
|
rs373352475
|
0.00009
|
NM_153006.3(NAGS):c.1269-18G>A
|
rs369686713
|
0.00008
|
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)
|
rs201142696
|
0.00008
|
NM_153006.3(NAGS):c.1171C>G (p.Leu391Val)
|
rs537949245
|
0.00007
|
NM_153006.3(NAGS):c.290C>T (p.Ser97Leu)
|
rs746624443
|
0.00006
|
NM_153006.3(NAGS):c.*382C>T
|
rs923164970
|
0.00005
|
NM_153006.3(NAGS):c.1152C>T (p.Asp384=)
|
rs773966217
|
0.00004
|
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)
|
rs761558985
|
0.00004
|
NM_153006.3(NAGS):c.1392G>A (p.Leu464=)
|
rs758356127
|
0.00004
|
NM_153006.3(NAGS):c.1526G>A (p.Arg509Gln)
|
rs759076608
|
0.00004
|
NM_153006.3(NAGS):c.291G>A (p.Ser97=)
|
rs769434080
|
0.00004
|
NM_153006.3(NAGS):c.429G>A (p.Val143=)
|
rs199976538
|
0.00004
|
NM_153006.3(NAGS):c.534G>A (p.Pro178=)
|
rs539061299
|
0.00004
|
NM_153006.3(NAGS):c.573G>A (p.Glu191=)
|
rs748018121
|
0.00004
|
NM_153006.3(NAGS):c.622C>A (p.Arg208=)
|
rs762205848
|
0.00004
|
NM_153006.3(NAGS):c.8C>T (p.Thr3Met)
|
rs958791517
|
0.00004
|
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr)
|
rs186127828
|
0.00004
|
NM_153006.3(NAGS):c.1038C>T (p.His346=)
|
rs754276418
|
0.00003
|
NM_153006.3(NAGS):c.1311G>T (p.Gly437=)
|
rs762358574
|
0.00003
|
NM_153006.3(NAGS):c.1416C>T (p.Phe472=)
|
rs769484401
|
0.00003
|
NM_153006.3(NAGS):c.1479C>T (p.Phe493=)
|
rs551970622
|
0.00003
|
NM_153006.3(NAGS):c.376C>A (p.Gln126Lys)
|
rs942089643
|
0.00003
|
NM_153006.3(NAGS):c.80G>A (p.Gly27Asp)
|
rs755538430
|
0.00003
|
NM_153006.3(NAGS):c.*43A>G
|
rs762719000
|
0.00002
|
NM_153006.3(NAGS):c.1139T>A (p.Val380Glu)
|
rs749187900
|
0.00002
|
NM_153006.3(NAGS):c.1275C>T (p.Asn425=)
|
rs758320949
|
0.00002
|
NM_153006.3(NAGS):c.1446T>A (p.Asn482Lys)
|
rs915618486
|
0.00002
|
NM_153006.3(NAGS):c.1593C>G (p.Asp531Glu)
|
rs748372797
|
0.00002
|
NM_153006.3(NAGS):c.350C>T (p.Pro117Leu)
|
rs767257841
|
0.00002
|
NM_153006.3(NAGS):c.417C>T (p.Ala139=)
|
rs776301293
|
0.00002
|
NM_153006.3(NAGS):c.505A>T (p.Met169Leu)
|
rs569174201
|
0.00002
|
NM_153006.3(NAGS):c.572A>G (p.Glu191Gly)
|
rs778797257
|
0.00002
|
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)
|
rs748875458
|
0.00002
|
NM_153006.3(NAGS):c.834C>T (p.Thr278=)
|
rs1355724687
|
0.00002
|
NM_153006.3(NAGS):c.852G>A (p.Ala284=)
|
rs781691544
|
0.00002
|
NM_153006.3(NAGS):c.*115G>A
|
rs1215816858
|
0.00001
|
NM_153006.3(NAGS):c.1000C>A (p.Arg334=)
|
rs201310602
|
0.00001
|
NM_153006.3(NAGS):c.1025del (p.Arg342fs)
|
rs730880266
|
0.00001
|
NM_153006.3(NAGS):c.1047C>T (p.Ala349=)
|
rs1401837626
|
0.00001
|
NM_153006.3(NAGS):c.1096+9G>A
|
rs1194405418
|
0.00001
|
NM_153006.3(NAGS):c.1101C>T (p.Ser367=)
|
rs777811683
|
0.00001
|
NM_153006.3(NAGS):c.1110G>C (p.Leu370=)
|
rs1597866171
|
0.00001
|
NM_153006.3(NAGS):c.1113C>A (p.Phe371Leu)
|
rs755872617
|
0.00001
|
NM_153006.3(NAGS):c.1191C>T (p.Ala397=)
|
rs764654474
|
0.00001
|
NM_153006.3(NAGS):c.1197C>T (p.Phe399=)
|
rs751627477
|
0.00001
|
NM_153006.3(NAGS):c.1204A>C (p.Lys402Gln)
|
rs984226051
|
0.00001
|
NM_153006.3(NAGS):c.1222C>T (p.Leu408=)
|
rs1418116310
|
0.00001
|
NM_153006.3(NAGS):c.1231C>A (p.Leu411Met)
|
rs199923863
|
0.00001
|
NM_153006.3(NAGS):c.1242G>A (p.Arg414=)
|
rs754959332
|
0.00001
|
NM_153006.3(NAGS):c.1257C>T (p.Tyr419=)
|
rs1235142426
|
0.00001
|
NM_153006.3(NAGS):c.1270T>A (p.Tyr424Asn)
|
rs1555620800
|
0.00001
|
NM_153006.3(NAGS):c.1272C>G (p.Tyr424Ter)
|
rs1214956593
|
0.00001
|
NM_153006.3(NAGS):c.1283C>T (p.Ala428Val)
|
rs1160426864
|
0.00001
|
NM_153006.3(NAGS):c.1299G>A (p.Glu433=)
|
rs104894607
|
0.00001
|
NM_153006.3(NAGS):c.1317C>T (p.Thr439=)
|
rs1483196926
|
0.00001
|
NM_153006.3(NAGS):c.1452-4C>G
|
rs749449489
|
0.00001
|
NM_153006.3(NAGS):c.154G>T (p.Ala52Ser)
|
rs1473994582
|
0.00001
|
NM_153006.3(NAGS):c.1551C>T (p.His517=)
|
rs757631705
|
0.00001
|
NM_153006.3(NAGS):c.1563G>A (p.Leu521=)
|
rs368798366
|
0.00001
|
NM_153006.3(NAGS):c.1597G>A (p.Gly533Ser)
|
rs139304608
|
0.00001
|
NM_153006.3(NAGS):c.180C>A (p.Pro60=)
|
rs1295356207
|
0.00001
|
NM_153006.3(NAGS):c.216G>T (p.Ser72=)
|
rs891726101
|
0.00001
|
NM_153006.3(NAGS):c.251C>T (p.Pro84Leu)
|
rs1381894842
|
0.00001
|
NM_153006.3(NAGS):c.273G>A (p.Glu91=)
|
rs1302576935
|
0.00001
|
NM_153006.3(NAGS):c.297C>T (p.Arg99=)
|
rs1381024708
|
0.00001
|
NM_153006.3(NAGS):c.303G>T (p.Leu101=)
|
rs986684848
|
0.00001
|
NM_153006.3(NAGS):c.34G>A (p.Ala12Thr)
|
rs759453873
|
0.00001
|
NM_153006.3(NAGS):c.351T>G (p.Pro117=)
|
rs1214682844
|
0.00001
|
NM_153006.3(NAGS):c.427-222G>A
|
rs2049072767
|
0.00001
|
NM_153006.3(NAGS):c.42T>C (p.Ala14=)
|
rs752217893
|
0.00001
|
NM_153006.3(NAGS):c.450C>T (p.Cys150=)
|
rs750572927
|
0.00001
|
NM_153006.3(NAGS):c.459C>T (p.Gly153=)
|
rs1259861627
|
0.00001
|
NM_153006.3(NAGS):c.51G>A (p.Pro17=)
|
rs1009436443
|
0.00001
|
NM_153006.3(NAGS):c.585G>A (p.Gln195=)
|
rs1418200676
|
0.00001
|
NM_153006.3(NAGS):c.618G>A (p.Ala206=)
|
rs767680440
|
0.00001
|
NM_153006.3(NAGS):c.645G>T (p.Val215=)
|
rs766418377
|
0.00001
|
NM_153006.3(NAGS):c.675C>A (p.Arg225=)
|
rs1436648834
|
0.00001
|
NM_153006.3(NAGS):c.687G>T (p.Pro229=)
|
rs1319985208
|
0.00001
|
NM_153006.3(NAGS):c.696T>C (p.His232=)
|
rs1268332465
|
0.00001
|
NM_153006.3(NAGS):c.701+11G>A
|
rs1206538981
|
0.00001
|
NM_153006.3(NAGS):c.708C>A (p.Gly236=)
|
rs202223128
|
0.00001
|
NM_153006.3(NAGS):c.714C>T (p.Ile238=)
|
rs751366509
|
0.00001
|
NM_153006.3(NAGS):c.721G>T (p.Val241Leu)
|
rs899402990
|
0.00001
|
NM_153006.3(NAGS):c.795C>T (p.Ala265=)
|
rs763221725
|
0.00001
|
NM_153006.3(NAGS):c.81C>A (p.Gly27=)
|
rs1473496570
|
0.00001
|
NM_153006.3(NAGS):c.837G>A (p.Ala279=)
|
rs778475082
|
0.00001
|
NM_153006.3(NAGS):c.853C>T (p.Leu285=)
|
rs746317425
|
0.00001
|
NM_153006.3(NAGS):c.858G>A (p.Arg286=)
|
rs373673751
|
0.00001
|
NM_153006.3(NAGS):c.879C>G (p.Leu293=)
|
rs1236291283
|
0.00001
|
NM_153006.3(NAGS):c.897G>A (p.Leu299=)
|
rs1453345879
|
0.00001
|
NM_153006.3(NAGS):c.915+10T>C
|
rs780755353
|
0.00001
|
NM_153006.3(NAGS):c.915+18A>G
|
rs1470219186
|
0.00001
|
NM_153006.3(NAGS):c.915+6_915+7insAA
|
rs745844473
|
0.00001
|
NM_153006.3(NAGS):c.916-9C>T
|
rs1162697855
|
0.00001
|
NM_153006.3(NAGS):c.927C>T (p.Asn309=)
|
rs551054997
|
0.00001
|
NM_153006.3(NAGS):c.942C>T (p.Ala314=)
|
rs1226554229
|
0.00001
|
NM_153006.3(NAGS):c.975G>A (p.Val325=)
|
rs770676572
|
0.00001
|
NM_153006.3(NAGS):c.1008C>T (p.Ile336=)
|
|
|
NM_153006.3(NAGS):c.1018C>T (p.Leu340Phe)
|
rs2143987322
|
|
NM_153006.3(NAGS):c.1026C>A (p.Arg342=)
|
rs2143987399
|
|
NM_153006.3(NAGS):c.1029G>A (p.Leu343=)
|
|
|
NM_153006.3(NAGS):c.102C>A (p.Gly34=)
|
rs1466551045
|
|
NM_153006.3(NAGS):c.102_103insAGATCGGAAGA (p.Ala35fs)
|
rs1567941557
|
|
NM_153006.3(NAGS):c.1032C>A (p.Pro344=)
|
|
|
NM_153006.3(NAGS):c.1032C>T (p.Pro344=)
|
rs766601934
|
|
NM_153006.3(NAGS):c.1035C>T (p.His345=)
|
|
|
NM_153006.3(NAGS):c.1037_1070del (p.His346fs)
|
|
|
NM_153006.3(NAGS):c.1041C>T (p.Ser347=)
|
rs2143987479
|
|
NM_153006.3(NAGS):c.1044G>A (p.Ser348=)
|
|
|
NM_153006.3(NAGS):c.1053C>A (p.Ile351=)
|
|
|
NM_153006.3(NAGS):c.1053C>T (p.Ile351=)
|
rs2143987541
|
|
NM_153006.3(NAGS):c.1056C>T (p.Thr352=)
|
|
|
NM_153006.3(NAGS):c.1057G>T (p.Ala353Ser)
|
rs1320094253
|
|
NM_153006.3(NAGS):c.1059C>T (p.Ala353=)
|
rs1434296716
|
|
NM_153006.3(NAGS):c.105G>A (p.Ala35=)
|
rs771197434
|
|
NM_153006.3(NAGS):c.1062T>C (p.Ala354=)
|
|
|
NM_153006.3(NAGS):c.106_107del (p.Arg36fs)
|
rs2143978561
|
|
NM_153006.3(NAGS):c.1074C>T (p.Leu358=)
|
rs2143987676
|
|
NM_153006.3(NAGS):c.1096+14G>C
|
|
|
NM_153006.3(NAGS):c.1096+17G>A
|
|
|
NM_153006.3(NAGS):c.1096+18G>T
|
|
|
NM_153006.3(NAGS):c.1096+1G>A
|
|
|
NM_153006.3(NAGS):c.1096+25_1096+55del
|
|
|
NM_153006.3(NAGS):c.1096+2T>G
|
rs2049097522
|
|
NM_153006.3(NAGS):c.1096+2_1096+7del
|
|
|
NM_153006.3(NAGS):c.1096+7G>A
|
rs2143987778
|
|
NM_153006.3(NAGS):c.1097-10C>G
|
rs2143989589
|
|
NM_153006.3(NAGS):c.1097-11TCC[2]
|
|
|
NM_153006.3(NAGS):c.1097-12A>G
|
|
|
NM_153006.3(NAGS):c.1097-16C>T
|
|
|
NM_153006.3(NAGS):c.1097-19C>T
|
|
|
NM_153006.3(NAGS):c.1097-1G>A
|
|
|
NM_153006.3(NAGS):c.1097-1G>C
|
rs2143989613
|
|
NM_153006.3(NAGS):c.1097-20C>T
|
|
|
NM_153006.3(NAGS):c.1097-2A>G
|
rs2049106256
|
|
NM_153006.3(NAGS):c.1097-4C>T
|
|
|
NM_153006.3(NAGS):c.1097-52_1105del
|
rs2143989504
|
|
NM_153006.3(NAGS):c.1097-9C>T
|
rs2143989599
|
|
NM_153006.3(NAGS):c.1104G>A (p.Gly368=)
|
|
|
NM_153006.3(NAGS):c.1107C>G (p.Thr369=)
|
rs781536676
|
|
NM_153006.3(NAGS):c.1108del (p.Leu370fs)
|
|
|
NM_153006.3(NAGS):c.110G>A (p.Arg37Gln)
|
|
|
NM_153006.3(NAGS):c.1110G>A (p.Leu370=)
|
|
|
NM_153006.3(NAGS):c.1113dup (p.Lys372fs)
|
rs2143989730
|
|
NM_153006.3(NAGS):c.1114A>T (p.Lys372Ter)
|
rs2049106859
|
|
NM_153006.3(NAGS):c.1119C>T (p.Asn373=)
|
rs2143989746
|
|
NM_153006.3(NAGS):c.111_120del (p.Arg38fs)
|
rs2143978628
|
|
NM_153006.3(NAGS):c.1122C>A (p.Ala374=)
|
rs2049107012
|
|
NM_153006.3(NAGS):c.114G>A (p.Arg38=)
|
|
|
NM_153006.3(NAGS):c.114_120dup (p.Arg41fs)
|
|
|
NM_153006.3(NAGS):c.1155G>A (p.Lys385=)
|
rs1180741674
|
|
NM_153006.3(NAGS):c.115G>A (p.Ala39Thr)
|
|
|
NM_153006.3(NAGS):c.1165G>A (p.Gly389Ser)
|
rs2049107623
|
|
NM_153006.3(NAGS):c.1167C>T (p.Gly389=)
|
|
|
NM_153006.3(NAGS):c.116C>T (p.Ala39Val)
|
rs754480096
|
|
NM_153006.3(NAGS):c.116_122dup (p.Arg41fs)
|
|
|
NM_153006.3(NAGS):c.1170T>C (p.Arg390=)
|
rs2143989936
|
|
NM_153006.3(NAGS):c.1175T>A (p.Val392Glu)
|
rs1168032842
|
|
NM_153006.3(NAGS):c.117G>A (p.Ala39=)
|
rs765197938
|
|
NM_153006.3(NAGS):c.117G>C (p.Ala39=)
|
rs765197938
|
|
NM_153006.3(NAGS):c.1185C>T (p.Val395=)
|
rs1597866228
|
|
NM_153006.3(NAGS):c.1192A>T (p.Ser398Cys)
|
|
|
NM_153006.3(NAGS):c.1199G>C (p.Gly400Ala)
|
|
|
NM_153006.3(NAGS):c.120G>A (p.Ala40=)
|
|
|
NM_153006.3(NAGS):c.1212G>A (p.Arg404=)
|
rs2143990187
|
|
NM_153006.3(NAGS):c.1215C>T (p.Asp405=)
|
|
|
NM_153006.3(NAGS):c.1219T>C (p.Tyr407His)
|
rs1483447934
|
|
NM_153006.3(NAGS):c.1224G>A (p.Leu408=)
|
rs2143990246
|
|
NM_153006.3(NAGS):c.1227C>T (p.Ala409=)
|
rs2049109242
|
|
NM_153006.3(NAGS):c.1228T>C (p.Ser410Pro)
|
|
|
NM_153006.3(NAGS):c.1230G>A (p.Ser410=)
|
|
|
NM_153006.3(NAGS):c.123G>A (p.Arg41=)
|
rs2143978763
|
|
NM_153006.3(NAGS):c.1248C>T (p.His416=)
|
rs1389030432
|
|
NM_153006.3(NAGS):c.1257C>A (p.Tyr419Ter)
|
|
|
NM_153006.3(NAGS):c.125G>T (p.Gly42Val)
|
|
|
NM_153006.3(NAGS):c.1260C>A (p.Val420=)
|
|
|
NM_153006.3(NAGS):c.1263C>G (p.Ser421=)
|
rs748046278
|
|
NM_153006.3(NAGS):c.1263C>T (p.Ser421=)
|
|
|
NM_153006.3(NAGS):c.1268+10C>G
|
rs1226354289
|
|
NM_153006.3(NAGS):c.1268+10C>T
|
rs1226354289
|
|
NM_153006.3(NAGS):c.1268+12G>A
|
|
|
NM_153006.3(NAGS):c.1268+13A>G
|
|
|
NM_153006.3(NAGS):c.1268+15C>A
|
|
|
NM_153006.3(NAGS):c.1268+16C>T
|
|
|
NM_153006.3(NAGS):c.1268+17C>T
|
|
|
NM_153006.3(NAGS):c.1268+17del
|
|
|
NM_153006.3(NAGS):c.1268+17dup
|
|
|
NM_153006.3(NAGS):c.1268+1G>A
|
rs1597866317
|
|
NM_153006.3(NAGS):c.1268+20A>C
|
|
|
NM_153006.3(NAGS):c.1268+2T>C
|
rs202041339
|
|
NM_153006.3(NAGS):c.1268+7C>T
|
|
|
NM_153006.3(NAGS):c.1269-11C>T
|
|
|
NM_153006.3(NAGS):c.1269-14T>C
|
|
|
NM_153006.3(NAGS):c.1269-15C>T
|
|
|
NM_153006.3(NAGS):c.1269-18G>C
|
|
|
NM_153006.3(NAGS):c.1269-1G>A
|
|
|
NM_153006.3(NAGS):c.1269-20C>T
|
|
|
NM_153006.3(NAGS):c.1269-5G>A
|
|
|
NM_153006.3(NAGS):c.1269-7G>A
|
|
|
NM_153006.3(NAGS):c.1272C>A (p.Tyr424Ter)
|
|
|
NM_153006.3(NAGS):c.1278C>T (p.Ala426=)
|
|
|
NM_153006.3(NAGS):c.1281C>T (p.Ala427=)
|
|
|
NM_153006.3(NAGS):c.1284C>T (p.Ala428=)
|
rs2143990754
|
|
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)
|
rs104894605
|
|
NM_153006.3(NAGS):c.1290G>A (p.Leu430=)
|
|
|
NM_153006.3(NAGS):c.1290G>C (p.Leu430=)
|
rs1411823216
|
|
NM_153006.3(NAGS):c.1293C>T (p.Thr431=)
|
rs746570484
|
|
NM_153006.3(NAGS):c.1299G>C (p.Glu433Asp)
|
rs104894607
|
|
NM_153006.3(NAGS):c.1302del (p.Val435fs)
|
|
|
NM_153006.3(NAGS):c.1307T>G (p.Leu436Arg)
|
rs867444614
|
|
NM_153006.3(NAGS):c.1307dup (p.Thr439fs)
|
rs730880303
|
|
NM_153006.3(NAGS):c.1308G>C (p.Leu436=)
|
|
|
NM_153006.3(NAGS):c.1313del (p.Gly438fs)
|
rs1597866458
|
|
NM_153006.3(NAGS):c.1313dup (p.Thr439fs)
|
rs1597866458
|
|
NM_153006.3(NAGS):c.1320G>C (p.Pro440=)
|
rs2049112622
|
|
NM_153006.3(NAGS):c.1323C>G (p.Tyr441Ter)
|
rs886042831
|
|
NM_153006.3(NAGS):c.1323C>T (p.Tyr441=)
|
|
|
NM_153006.3(NAGS):c.1324C>G (p.Leu442Val)
|
|
|
NM_153006.3(NAGS):c.1328del (p.Asp443fs)
|
|
|
NM_153006.3(NAGS):c.1347C>T (p.Ser449=)
|
rs759863903
|
|
NM_153006.3(NAGS):c.134del (p.Pro45fs)
|
|
|
NM_153006.3(NAGS):c.135G>A (p.Pro45=)
|
rs1390227455
|
|
NM_153006.3(NAGS):c.1368C>T (p.Ser456=)
|
|
|
NM_153006.3(NAGS):c.1369G>A (p.Gly457Ser)
|
|
|
NM_153006.3(NAGS):c.1378C>T (p.Leu460=)
|
rs1272126077
|
|
NM_153006.3(NAGS):c.1380G>A (p.Leu460=)
|
|
|
NM_153006.3(NAGS):c.1389C>G (p.Cys463Trp)
|
|
|
NM_153006.3(NAGS):c.138G>A (p.Gly46=)
|
|
|
NM_153006.3(NAGS):c.138del (p.Arg47fs)
|
rs2143978844
|
|
NM_153006.3(NAGS):c.1398G>A (p.Arg466=)
|
rs369492320
|
|
NM_153006.3(NAGS):c.1398G>T (p.Arg466=)
|
rs369492320
|
|
NM_153006.3(NAGS):c.1401C>T (p.Asp467=)
|
rs2143991312
|
|
NM_153006.3(NAGS):c.1407G>A (p.Gln469=)
|
rs1597866589
|
|
NM_153006.3(NAGS):c.1413T>C (p.Leu471=)
|
rs745475802
|
|
NM_153006.3(NAGS):c.1414_1415del (p.Phe472fs)
|
rs2143991359
|
|
NM_153006.3(NAGS):c.141C>A (p.Arg47=)
|
|
|
NM_153006.3(NAGS):c.141C>G (p.Arg47=)
|
|
|
NM_153006.3(NAGS):c.1428G>C (p.Arg476=)
|
rs961520446
|
|
NM_153006.3(NAGS):c.1434C>A (p.Thr478=)
|
|
|
NM_153006.3(NAGS):c.1440C>T (p.Pro480=)
|
rs1412613219
|
|
NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg)
|
rs104894606
|
|
NM_153006.3(NAGS):c.1451+13A>G
|
|
|
NM_153006.3(NAGS):c.1451+16C>T
|
|
|
NM_153006.3(NAGS):c.1451+20G>C
|
|
|
NM_153006.3(NAGS):c.1451+7C>A
|
rs755758863
|
|
NM_153006.3(NAGS):c.1451+7C>G
|
rs755758863
|
|
NM_153006.3(NAGS):c.1451+9T>A
|
|
|
NM_153006.3(NAGS):c.1451+9_1451+10inv
|
|
|
NM_153006.3(NAGS):c.1451G>A (p.Trp484Ter)
|
|
|
NM_153006.3(NAGS):c.1452-12C>T
|
|
|
NM_153006.3(NAGS):c.1452-13T>G
|
|
|
NM_153006.3(NAGS):c.1452-15C>A
|
|
|
NM_153006.3(NAGS):c.1452-9C>G
|
rs532143469
|
|
NM_153006.3(NAGS):c.1452-9C>T
|
|
|
NM_153006.3(NAGS):c.1452G>A (p.Trp484Ter)
|
|
|
NM_153006.3(NAGS):c.1464C>T (p.His488=)
|
|
|
NM_153006.3(NAGS):c.1465_1466del (p.His488_Ser489insTer)
|
|
|
NM_153006.3(NAGS):c.1470T>C (p.Asp490=)
|
rs905032249
|
|
NM_153006.3(NAGS):c.147C>A (p.Leu49=)
|
|
|
NM_153006.3(NAGS):c.1489C>T (p.Gln497Ter)
|
|
|
NM_153006.3(NAGS):c.1491G>A (p.Gln497=)
|
rs1377573272
|
|
NM_153006.3(NAGS):c.1503C>T (p.Phe501=)
|
|
|
NM_153006.3(NAGS):c.1505G>A (p.Trp502Ter)
|
|
|
NM_153006.3(NAGS):c.1515G>C (p.Leu505=)
|
rs2049123033
|
|
NM_153006.3(NAGS):c.1524C>G (p.Ile508Met)
|
|
|
NM_153006.3(NAGS):c.1532C>G (p.Ser511Cys)
|
|
|
NM_153006.3(NAGS):c.153C>T (p.Thr51=)
|
rs2049062343
|
|
NM_153006.3(NAGS):c.1542G>A (p.Leu514=)
|
rs1181746782
|
|
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
|
|
|
NM_153006.3(NAGS):c.1554C>G (p.Ala518=)
|
rs750912652
|
|
NM_153006.3(NAGS):c.1557G>A (p.Lys519=)
|
|
|
NM_153006.3(NAGS):c.1566A>C (p.Pro522=)
|
rs1468250857
|
|
NM_153006.3(NAGS):c.156C>T (p.Ala52=)
|
rs2143978978
|
|
NM_153006.3(NAGS):c.1572C>A (p.Ser524=)
|
rs1020636428
|
|
NM_153006.3(NAGS):c.1587T>C (p.Ala529=)
|
rs2143993662
|
|
NM_153006.3(NAGS):c.1593C>T (p.Asp531=)
|
rs748372797
|
|
NM_153006.3(NAGS):c.1596A>C (p.Pro532=)
|
rs2049124321
|
|
NM_153006.3(NAGS):c.15G>A (p.Leu5=)
|
rs2143978145
|
|
NM_153006.3(NAGS):c.162G>A (p.Ser54=)
|
rs2049062552
|
|
NM_153006.3(NAGS):c.168C>T (p.Pro56=)
|
rs1597863930
|
|
NM_153006.3(NAGS):c.174C>T (p.Pro58=)
|
|
|
NM_153006.3(NAGS):c.177G>A (p.Pro59=)
|
|
|
NM_153006.3(NAGS):c.181G>C (p.Glu61Gln)
|
|
|
NM_153006.3(NAGS):c.189C>T (p.Tyr63=)
|
rs1555620394
|
|
NM_153006.3(NAGS):c.190G>A (p.Ala64Thr)
|
rs531005276
|
|
NM_153006.3(NAGS):c.193G>A (p.Gly65Ser)
|
|
|
NM_153006.3(NAGS):c.198G>A (p.Ala66=)
|
|
|
NM_153006.3(NAGS):c.198G>T (p.Ala66=)
|
|
|
NM_153006.3(NAGS):c.201C>T (p.Asp67=)
|
rs748567515
|
|
NM_153006.3(NAGS):c.204C>T (p.Asp68=)
|
|
|
NM_153006.3(NAGS):c.205G>C (p.Val69Leu)
|
|
|
NM_153006.3(NAGS):c.210C>T (p.Ser70=)
|
rs570583859
|
|
NM_153006.3(NAGS):c.216G>A (p.Ser72=)
|
|
|
NM_153006.3(NAGS):c.216G>C (p.Ser72=)
|
rs891726101
|
|
NM_153006.3(NAGS):c.219C>T (p.Pro73=)
|
rs2143979276
|
|
NM_153006.3(NAGS):c.225C>G (p.Ala75=)
|
rs1192887521
|
|
NM_153006.3(NAGS):c.225C>T (p.Ala75=)
|
|
|
NM_153006.3(NAGS):c.234G>A (p.Pro78=)
|
|
|
NM_153006.3(NAGS):c.234G>T (p.Pro78=)
|
|
|
NM_153006.3(NAGS):c.236C>T (p.Ser79Leu)
|
|
|
NM_153006.3(NAGS):c.24G>C (p.Val8=)
|
|
|
NM_153006.3(NAGS):c.252C>G (p.Pro84=)
|
|
|
NM_153006.3(NAGS):c.258C>T (p.Pro86=)
|
|
|
NM_153006.3(NAGS):c.25G>A (p.Val9Ile)
|
rs2049059364
|
|
NM_153006.3(NAGS):c.261G>A (p.Pro87=)
|
|
|
NM_153006.3(NAGS):c.261G>C (p.Pro87=)
|
rs890999429
|
|
NM_153006.3(NAGS):c.267C>T (p.Pro89=)
|
rs1267196366
|
|
NM_153006.3(NAGS):c.270C>T (p.His90=)
|
rs2143979493
|
|
NM_153006.3(NAGS):c.276C>G (p.Ser92=)
|
rs2143979527
|
|
NM_153006.3(NAGS):c.289T>C (p.Ser97Pro)
|
|
|
NM_153006.3(NAGS):c.294C>A (p.Gly98=)
|
rs1252906552
|
|
NM_153006.3(NAGS):c.299C>A (p.Ser100Ter)
|
rs764150659
|
|
NM_153006.3(NAGS):c.2T>C (p.Met1Thr)
|
|
|
NM_153006.3(NAGS):c.306G>A (p.Val102=)
|
rs2143979742
|
|
NM_153006.3(NAGS):c.310del (p.Arg104fs)
|
|
|
NM_153006.3(NAGS):c.312G>A (p.Arg104=)
|
|
|
NM_153006.3(NAGS):c.312G>C (p.Arg104=)
|
rs2143979790
|
|
NM_153006.3(NAGS):c.327C>T (p.Phe109=)
|
rs2143979832
|
|
NM_153006.3(NAGS):c.32G>A (p.Arg11Gln)
|
|
|
NM_153006.3(NAGS):c.330G>A (p.Leu110=)
|
|
|
NM_153006.3(NAGS):c.333C>T (p.Asn111=)
|
|
|
NM_153006.3(NAGS):c.334C>T (p.Gln112Ter)
|
|
|
NM_153006.3(NAGS):c.336G>A (p.Gln112=)
|
|
|
NM_153006.3(NAGS):c.339C>A (p.Cys113Ter)
|
|
|
NM_153006.3(NAGS):c.339C>T (p.Cys113=)
|
|
|
NM_153006.3(NAGS):c.342G>A (p.Gly114=)
|
|
|
NM_153006.3(NAGS):c.342G>C (p.Gly114=)
|
|
|
NM_153006.3(NAGS):c.343del (p.Ala115fs)
|
|
|
NM_153006.3(NAGS):c.34G>C (p.Ala12Pro)
|
rs759453873
|
|
NM_153006.3(NAGS):c.34del (p.Ala12fs)
|
rs2049059647
|
|
NM_153006.3(NAGS):c.353G>C (p.Gly118Ala)
|
|
|
NM_153006.3(NAGS):c.354G>A (p.Gly118=)
|
rs2143980002
|
|
NM_153006.3(NAGS):c.354G>C (p.Gly118=)
|
rs2143980002
|
|
NM_153006.3(NAGS):c.360G>A (p.Ala120=)
|
|
|
NM_153006.3(NAGS):c.361C>A (p.Arg121Ser)
|
rs1024501740
|
|
NM_153006.3(NAGS):c.363C>A (p.Arg121=)
|
rs1181064814
|
|
NM_153006.3(NAGS):c.368G>A (p.Trp123Ter)
|
rs2143980093
|
|
NM_153006.3(NAGS):c.376C>T (p.Gln126Ter)
|
|
|
NM_153006.3(NAGS):c.381C>T (p.Phe127=)
|
rs927052830
|
|
NM_153006.3(NAGS):c.382C>T (p.Gln128Ter)
|
|
|
NM_153006.3(NAGS):c.386C>G (p.Thr129Ser)
|
|
|
NM_153006.3(NAGS):c.390C>A (p.Cys130Ter)
|
rs2143980228
|
|
NM_153006.3(NAGS):c.399C>G (p.Ser133=)
|
rs1395771233
|
|
NM_153006.3(NAGS):c.399C>T (p.Ser133=)
|
|
|
NM_153006.3(NAGS):c.402G>A (p.Ala134=)
|
|
|
NM_153006.3(NAGS):c.424G>T (p.Glu142Ter)
|
rs1282296585
|
|
NM_153006.3(NAGS):c.426+13C>T
|
|
|
NM_153006.3(NAGS):c.426+15G>C
|
|
|
NM_153006.3(NAGS):c.426+16C>T
|
|
|
NM_153006.3(NAGS):c.426+17G>A
|
|
|
NM_153006.3(NAGS):c.426+7G>A
|
rs2143980401
|
|
NM_153006.3(NAGS):c.427-12dup
|
|
|
NM_153006.3(NAGS):c.427-218A>C
|
|
|
NM_153006.3(NAGS):c.427-218A>G
|
rs886507459
|
|
NM_153006.3(NAGS):c.427-4G>C
|
|
|
NM_153006.3(NAGS):c.427-5C>T
|
rs1468991083
|
|
NM_153006.3(NAGS):c.427-9C>A
|
|
|
NM_153006.3(NAGS):c.427-9C>T
|
rs764462133
|
|
NM_153006.3(NAGS):c.432C>T (p.Asp144=)
|
rs2143982442
|
|
NM_153006.3(NAGS):c.435G>A (p.Glu145=)
|
rs1361718132
|
|
NM_153006.3(NAGS):c.444C>A (p.Leu148=)
|
rs2143982508
|
|
NM_153006.3(NAGS):c.458del (p.Gly153fs)
|
|
|
NM_153006.3(NAGS):c.459C>A (p.Gly153=)
|
|
|
NM_153006.3(NAGS):c.45A>C (p.Val15=)
|
|
|
NM_153006.3(NAGS):c.465C>A (p.Ser155=)
|
rs535703833
|
|
NM_153006.3(NAGS):c.465C>T (p.Ser155=)
|
rs535703833
|
|
NM_153006.3(NAGS):c.467G>A (p.Ser156Asn)
|
|
|
NM_153006.3(NAGS):c.46del (p.Ala16fs)
|
rs2143978288
|
|
NM_153006.3(NAGS):c.477T>C (p.Phe159=)
|
rs2143982629
|
|
NM_153006.3(NAGS):c.480C>T (p.Ala160=)
|
rs1157924781
|
|
NM_153006.3(NAGS):c.490T>C (p.Leu164=)
|
|
|
NM_153006.3(NAGS):c.492G>A (p.Leu164=)
|
rs1372324564
|
|
NM_153006.3(NAGS):c.499A>G (p.Met167Val)
|
|
|
NM_153006.3(NAGS):c.504_505delinsTT (p.Met169Leu)
|
rs2049077729
|
|
NM_153006.3(NAGS):c.513G>A (p.Pro171=)
|
|
|
NM_153006.3(NAGS):c.513G>C (p.Pro171=)
|
|
|
NM_153006.3(NAGS):c.514C>T (p.Leu172=)
|
|
|
NM_153006.3(NAGS):c.516G>C (p.Leu172=)
|
|
|
NM_153006.3(NAGS):c.519G>T (p.Val173=)
|
|
|
NM_153006.3(NAGS):c.522C>T (p.Val174=)
|
|
|
NM_153006.3(NAGS):c.528G>A (p.Gly176=)
|
|
|
NM_153006.3(NAGS):c.535dup (p.Ala179fs)
|
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NM_153006.3(NAGS):c.536C>T (p.Ala179Val)
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|
NM_153006.3(NAGS):c.540T>C (p.Pro180=)
|
rs2143982962
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NM_153006.3(NAGS):c.541A>G (p.Thr181Ala)
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NM_153006.3(NAGS):c.544G>C (p.Ala182Pro)
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NM_153006.3(NAGS):c.548C>T (p.Pro183Leu)
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NM_153006.3(NAGS):c.54G>A (p.Arg18=)
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NM_153006.3(NAGS):c.552G>A (p.Ser184=)
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NM_153006.3(NAGS):c.552G>C (p.Ser184=)
|
rs766392856
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|
NM_153006.3(NAGS):c.552G>T (p.Ser184=)
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|
|
NM_153006.3(NAGS):c.555C>A (p.Gly185=)
|
rs2143983063
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NM_153006.3(NAGS):c.561T>A (p.Leu187=)
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NM_153006.3(NAGS):c.561T>G (p.Leu187=)
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NM_153006.3(NAGS):c.562dup (p.Ser188fs)
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NM_153006.3(NAGS):c.569G>A (p.Trp190Ter)
|
rs2049079486
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NM_153006.3(NAGS):c.56T>C (p.Leu19Pro)
|
rs1230176529
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NM_153006.3(NAGS):c.570G>A (p.Trp190Ter)
|
rs755257734
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NM_153006.3(NAGS):c.581C>A (p.Ala194Glu)
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NM_153006.3(NAGS):c.588G>A (p.Leu196=)
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rs2143983210
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NM_153006.3(NAGS):c.591C>T (p.Ala197=)
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NM_153006.3(NAGS):c.602A>C (p.Lys201Thr)
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NM_153006.3(NAGS):c.606G>C (p.Val202=)
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rs2143983282
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NM_153006.3(NAGS):c.611T>C (p.Val204Ala)
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NM_153006.3(NAGS):c.618G>T (p.Ala206=)
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rs767680440
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NM_153006.3(NAGS):c.622C>T (p.Arg208Ter)
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rs762205848
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NM_153006.3(NAGS):c.624A>T (p.Arg208=)
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NM_153006.3(NAGS):c.630C>T (p.Asn210=)
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rs2049080644
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NM_153006.3(NAGS):c.636C>T (p.Ala212=)
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rs767989838
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NM_153006.3(NAGS):c.639T>C (p.Ala213=)
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NM_153006.3(NAGS):c.63C>A (p.Gly21=)
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NM_153006.3(NAGS):c.63C>G (p.Gly21=)
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rs751131092
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NM_153006.3(NAGS):c.645_649del (p.Pro216fs)
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NM_153006.3(NAGS):c.64C>T (p.Arg22Trp)
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rs756973889
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NM_153006.3(NAGS):c.654dup (p.Gly219fs)
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NM_153006.3(NAGS):c.65G>C (p.Arg22Pro)
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NM_153006.3(NAGS):c.663G>A (p.Gly221=)
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rs2143983603
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NM_153006.3(NAGS):c.675C>T (p.Arg225=)
|
rs1436648834
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NM_153006.3(NAGS):c.681C>G (p.Ala227=)
|
rs886052982
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NM_153006.3(NAGS):c.681C>T (p.Ala227=)
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|
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NM_153006.3(NAGS):c.687G>A (p.Pro229=)
|
rs1319985208
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NM_153006.3(NAGS):c.693C>T (p.Pro231=)
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|
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NM_153006.3(NAGS):c.696T>A (p.His232Gln)
|
rs1268332465
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NM_153006.3(NAGS):c.69_78del (p.Gly24fs)
|
rs2049060332
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NM_153006.3(NAGS):c.6G>A (p.Ala2=)
|
rs2143978073
|
|
NM_153006.3(NAGS):c.701+10C>T
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NM_153006.3(NAGS):c.701+10del
|
rs1304329263
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NM_153006.3(NAGS):c.701+16G>C
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|
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NM_153006.3(NAGS):c.701+17C>T
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NM_153006.3(NAGS):c.701+1G>A
|
rs2049082368
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NM_153006.3(NAGS):c.701+20G>A
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NM_153006.3(NAGS):c.701+2dup
|
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NM_153006.3(NAGS):c.701+5_701+13dup
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NM_153006.3(NAGS):c.701+7G>A
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NM_153006.3(NAGS):c.701+8C>T
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NM_153006.3(NAGS):c.702-14C>T
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NM_153006.3(NAGS):c.702-16C>T
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NM_153006.3(NAGS):c.702-1G>C
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NM_153006.3(NAGS):c.702-20G>A
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NM_153006.3(NAGS):c.702-4A>G
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NM_153006.3(NAGS):c.702-7C>T
|
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NM_153006.3(NAGS):c.706G>A (p.Gly236Ser)
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|
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NM_153006.3(NAGS):c.710G>A (p.Gly237Asp)
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NM_153006.3(NAGS):c.711C>T (p.Gly237=)
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NM_153006.3(NAGS):c.719C>A (p.Ser240Ter)
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|
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NM_153006.3(NAGS):c.719C>T (p.Ser240Leu)
|
rs781031762
|
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NM_153006.3(NAGS):c.71G>A (p.Gly24Asp)
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|
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NM_153006.3(NAGS):c.720G>A (p.Ser240=)
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NM_153006.3(NAGS):c.720G>T (p.Ser240=)
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|
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NM_153006.3(NAGS):c.721G>A (p.Val241Met)
|
rs899402990
|
|
NM_153006.3(NAGS):c.724G>T (p.Glu242Ter)
|
rs2143984711
|
|
NM_153006.3(NAGS):c.72C>T (p.Gly24=)
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|
|
NM_153006.3(NAGS):c.735G>A (p.Leu245=)
|
rs2143984745
|
|
NM_153006.3(NAGS):c.744G>T (p.Trp248Cys)
|
rs1011767739
|
|
NM_153006.3(NAGS):c.747C>T (p.Cys249=)
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|
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NM_153006.3(NAGS):c.750G>A (p.Leu250=)
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|
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NM_153006.3(NAGS):c.756G>A (p.Ser252=)
|
rs778189681
|
|
NM_153006.3(NAGS):c.75T>G (p.Thr25=)
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|
|
NM_153006.3(NAGS):c.768C>G (p.Pro256=)
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|
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NM_153006.3(NAGS):c.771C>T (p.Ile257=)
|
rs777226243
|
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NM_153006.3(NAGS):c.777C>A (p.Cys259Ter)
|
rs2049086224
|
|
NM_153006.3(NAGS):c.777C>T (p.Cys259=)
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|
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NM_153006.3(NAGS):c.778C>A (p.Pro260Thr)
|
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NM_153006.3(NAGS):c.781A>G (p.Ile261Val)
|
|
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NM_153006.3(NAGS):c.783C>T (p.Ile261=)
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|
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NM_153006.3(NAGS):c.784G>A (p.Gly262Arg)
|
rs769924999
|
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NM_153006.3(NAGS):c.785G>C (p.Gly262Ala)
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|
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NM_153006.3(NAGS):c.78G>T (p.Gly26=)
|
rs2143978469
|
|
NM_153006.3(NAGS):c.796G>T (p.Ala266Ser)
|
|
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NM_153006.3(NAGS):c.798G>A (p.Ala266=)
|
rs1259851618
|
|
NM_153006.3(NAGS):c.801C>A (p.Arg267=)
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|
|
NM_153006.3(NAGS):c.801C>T (p.Arg267=)
|
|
|
NM_153006.3(NAGS):c.807C>T (p.Ser269=)
|
rs767368629
|
|
NM_153006.3(NAGS):c.810G>A (p.Val270=)
|
rs1171066992
|
|
NM_153006.3(NAGS):c.810G>T (p.Val270=)
|
rs1171066992
|
|
NM_153006.3(NAGS):c.816C>T (p.Leu272=)
|
|
|
NM_153006.3(NAGS):c.81C>T (p.Gly27=)
|
rs1473496570
|
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NM_153006.3(NAGS):c.822C>T (p.Ser274=)
|
|
|
NM_153006.3(NAGS):c.823del (p.Leu275fs)
|
|
|
NM_153006.3(NAGS):c.831G>A (p.Val277=)
|
rs779484535
|
|
NM_153006.3(NAGS):c.835G>A (p.Ala279Thr)
|
rs121912591
|
|
NM_153006.3(NAGS):c.837G>T (p.Ala279=)
|
rs778475082
|
|
NM_153006.3(NAGS):c.83C>T (p.Ala28Val)
|
|
|
NM_153006.3(NAGS):c.840G>A (p.Ser280=)
|
|
|
NM_153006.3(NAGS):c.840G>T (p.Ser280=)
|
|
|
NM_153006.3(NAGS):c.842del (p.Leu281fs)
|
|
|
NM_153006.3(NAGS):c.843G>A (p.Leu281=)
|
|
|
NM_153006.3(NAGS):c.852G>T (p.Ala284=)
|
|
|
NM_153006.3(NAGS):c.857G>A (p.Arg286Gln)
|
rs2049088201
|
|
NM_153006.3(NAGS):c.861C>T (p.Pro287=)
|
rs2143985503
|
|
NM_153006.3(NAGS):c.864C>G (p.Thr288=)
|
rs1196927943
|
|
NM_153006.3(NAGS):c.870C>T (p.Ile290=)
|
|
|
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
|
|
|
NM_153006.3(NAGS):c.876C>G (p.Phe292Leu)
|
|
|
NM_153006.3(NAGS):c.881A>G (p.Asn294Ser)
|
|
|
NM_153006.3(NAGS):c.885C>T (p.Asn295=)
|
|
|
NM_153006.3(NAGS):c.888A>T (p.Thr296=)
|
rs2143985659
|
|
NM_153006.3(NAGS):c.893del (p.Gly298fs)
|
rs2143985704
|
|
NM_153006.3(NAGS):c.89G>A (p.Arg30Lys)
|
|
|
NM_153006.3(NAGS):c.8C>G (p.Thr3Arg)
|
rs958791517
|
|
NM_153006.3(NAGS):c.900C>A (p.Arg300=)
|
rs753318804
|
|
NM_153006.3(NAGS):c.900C>G (p.Arg300=)
|
rs753318804
|
|
NM_153006.3(NAGS):c.904A>G (p.Ser302Gly)
|
rs377702343
|
|
NM_153006.3(NAGS):c.906C>T (p.Ser302=)
|
rs1433560187
|
|
NM_153006.3(NAGS):c.90G>A (p.Arg30=)
|
rs2143978515
|
|
NM_153006.3(NAGS):c.915+14_915+16dup
|
|
|
NM_153006.3(NAGS):c.915+14_915+17del
|
|
|
NM_153006.3(NAGS):c.915+1G>T
|
rs1319006991
|
|
NM_153006.3(NAGS):c.915+2T>C
|
|
|
NM_153006.3(NAGS):c.915+2T>G
|
|
|
NM_153006.3(NAGS):c.915+8C>G
|
rs2143985981
|
|
NM_153006.3(NAGS):c.916-2A>T
|
rs730880267
|
|
NM_153006.3(NAGS):c.918C>A (p.Val306=)
|
rs2049093957
|
|
NM_153006.3(NAGS):c.918C>T (p.Val306=)
|
|
|
NM_153006.3(NAGS):c.92_119del (p.Leu31fs)
|
|
|
NM_153006.3(NAGS):c.933C>T (p.Asn311=)
|
rs2143986837
|
|
NM_153006.3(NAGS):c.936G>A (p.Leu312=)
|
|
|
NM_153006.3(NAGS):c.939C>G (p.Pro313=)
|
|
|
NM_153006.3(NAGS):c.949G>A (p.Asp317Asn)
|
|
|
NM_153006.3(NAGS):c.951C>T (p.Asp317=)
|
rs2143986927
|
|
NM_153006.3(NAGS):c.957G>A (p.Val319=)
|
|
|
NM_153006.3(NAGS):c.966C>T (p.Ala322=)
|
rs2143987016
|
|
NM_153006.3(NAGS):c.971G>A (p.Trp324Ter)
|
rs104894604
|
|
NM_153006.3(NAGS):c.984A>C (p.Lys328Asn)
|
|
|
NM_153006.3(NAGS):c.998_1016del (p.Met333fs)
|
|
|
NM_153006.3(NAGS):c.9G>A (p.Thr3=)
|
|
|
NM_153006.3(NAGS):c.9G>T (p.Thr3=)
|
|
|