NM_000263.3(NAGLU):c.-144G>A
|
rs538885425
|
0.00263
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
NM_000263.3(NAGLU):c.-167G>T
|
rs145830042
|
0.00078
|
NM_000263.3(NAGLU):c.-212G>C
|
rs538288877
|
0.00063
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331
|
0.00040
|
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)
|
rs146715254
|
0.00029
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
|
rs140956564
|
0.00017
|
NM_000263.4(NAGLU):c.1880C>T (p.Ala627Val)
|
rs140905880
|
0.00017
|
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln)
|
rs146456266
|
0.00017
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000263.4(NAGLU):c.348C>T (p.Ala116=)
|
rs559674042
|
0.00016
|
NM_000263.4(NAGLU):c.678+4A>G
|
rs368199655
|
0.00016
|
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
|
rs115550028
|
0.00015
|
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp)
|
rs200981229
|
0.00015
|
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
|
rs375661192
|
0.00015
|
NM_000263.4(NAGLU):c.723G>A (p.Val241=)
|
rs140945842
|
0.00010
|
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
rs369970264
|
0.00009
|
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)
|
rs202115696
|
0.00009
|
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr)
|
rs930823153
|
0.00009
|
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn)
|
rs145452809
|
0.00009
|
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met)
|
rs777479452
|
0.00009
|
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
|
rs369789056
|
0.00008
|
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr)
|
rs752264680
|
0.00007
|
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys)
|
rs553293896
|
0.00006
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
|
rs747529593
|
0.00005
|
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn)
|
rs375068243
|
0.00005
|
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
|
rs539019626
|
0.00005
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
|
rs144807822
|
0.00004
|
NM_000263.4(NAGLU):c.383+7C>T
|
rs768602711
|
0.00004
|
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
|
rs375458666
|
0.00004
|
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr)
|
rs372165410
|
0.00003
|
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys)
|
rs772901588
|
0.00003
|
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
|
rs376545731
|
0.00003
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
rs774971794
|
0.00003
|
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
|
rs141018386
|
0.00003
|
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)
|
rs144771528
|
0.00003
|
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
|
rs750625891
|
0.00003
|
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)
|
rs749140168
|
0.00002
|
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
|
rs143938936
|
0.00002
|
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln)
|
rs1207098238
|
0.00002
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly)
|
rs777283283
|
0.00002
|
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg)
|
rs750276054
|
0.00002
|
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp)
|
rs368907396
|
0.00002
|
NM_000263.3(NAGLU):c.-228C>G
|
rs554915381
|
0.00001
|
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)
|
rs768918822
|
0.00001
|
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile)
|
rs1469114327
|
0.00001
|
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)
|
rs754413995
|
0.00001
|
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys)
|
rs762372103
|
0.00001
|
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His)
|
rs199850748
|
0.00001
|
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His)
|
rs753409259
|
0.00001
|
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met)
|
rs1237047553
|
0.00001
|
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro)
|
rs1432587285
|
0.00001
|
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val)
|
rs767179184
|
0.00001
|
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)
|
rs868244206
|
0.00001
|
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu)
|
rs748902330
|
0.00001
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
|
rs1300652650
|
0.00001
|
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152
|
0.00001
|
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
|
rs764446533
|
0.00001
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu)
|
rs1362489439
|
0.00001
|
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser)
|
rs1049965915
|
0.00001
|
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu)
|
rs1166458645
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg)
|
rs773277748
|
0.00001
|
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys)
|
rs756138287
|
0.00001
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly)
|
rs777994015
|
0.00001
|
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn)
|
rs1227171021
|
0.00001
|
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu)
|
rs753670246
|
0.00001
|
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg)
|
rs1197265081
|
0.00001
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
|
rs774918711
|
0.00001
|
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
|
rs540744217
|
0.00001
|
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
|
rs146582131
|
0.00001
|
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His)
|
rs754927686
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.2128C>G (p.Leu710Val)
|
rs371348286
|
0.00001
|
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn)
|
rs367726645
|
0.00001
|
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser)
|
rs553153753
|
0.00001
|
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp)
|
rs1455286651
|
0.00001
|
NM_000263.4(NAGLU):c.383+5C>G
|
rs762932040
|
0.00001
|
NM_000263.4(NAGLU):c.384-10C>G
|
rs772996063
|
0.00001
|
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
|
rs750741772
|
0.00001
|
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser)
|
rs762238741
|
0.00001
|
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)
|
rs1323850779
|
0.00001
|
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu)
|
rs765009822
|
0.00001
|
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg)
|
rs762576999
|
0.00001
|
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
|
rs904118831
|
0.00001
|
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser)
|
rs1347490896
|
0.00001
|
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val)
|
rs1405289098
|
0.00001
|
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
|
rs367604063
|
0.00001
|
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile)
|
rs764452721
|
0.00001
|
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
|
rs769713129
|
0.00001
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln)
|
rs200625281
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)
|
rs118204025
|
0.00001
|
NC_000017.10:g.(?_40688291)_(40690793_?)dup
|
|
|
NM_000263.4(NAGLU):c.*174A>G
|
rs896549130
|
|
NM_000263.4(NAGLU):c.*198del
|
rs747726415
|
|
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile)
|
|
|
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys)
|
|
|
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala)
|
|
|
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val)
|
|
|
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
|
|
|
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser)
|
|
|
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu)
|
rs753454744
|
|
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr)
|
|
|
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)
|
rs1459252305
|
|
NM_000263.4(NAGLU):c.1097T>A (p.Ile366Asn)
|
|
|
NM_000263.4(NAGLU):c.1101_1112dup (p.Val373_Pro374insLeuGlyAlaVal)
|
|
|
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala)
|
rs2143107785
|
|
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu)
|
|
|
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys)
|
|
|
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe)
|
rs2143107974
|
|
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val)
|
|
|
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro)
|
rs2143108019
|
|
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)
|
rs1599260473
|
|
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del)
|
rs1555622266
|
|
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys)
|
|
|
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro)
|
|
|
NM_000263.4(NAGLU):c.1181C>T (p.Thr394Ile)
|
|
|
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly)
|
rs1599260536
|
|
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)
|
|
|
NM_000263.4(NAGLU):c.1190T>G (p.Phe397Cys)
|
|
|
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)
|
|
|
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys)
|
rs777670507
|
|
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)
|
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr)
|
|
|
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys)
|
|
|
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg)
|
|
|
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser)
|
|
|
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)
|
|
|
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys)
|
|
|
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile)
|
rs886493431
|
|
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg)
|
rs2143109259
|
|
NM_000263.4(NAGLU):c.1322C>G (p.Thr441Arg)
|
rs138695961
|
|
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr)
|
|
|
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile)
|
rs1370763282
|
|
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu)
|
|
|
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys)
|
rs375103824
|
|
NM_000263.4(NAGLU):c.1376C>T (p.Ala459Val)
|
rs2143109756
|
|
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln)
|
|
|
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro)
|
|
|
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn)
|
rs1555622346
|
|
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala)
|
rs894998392
|
|
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val)
|
|
|
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val)
|
|
|
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu)
|
rs1332288767
|
|
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln)
|
rs965655357
|
|
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu)
|
|
|
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr)
|
|
|
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys)
|
|
|
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met)
|
|
|
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser)
|
rs2143110806
|
|
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro)
|
rs2092927686
|
|
NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro)
|
|
|
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln)
|
|
|
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
|
|
|
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys)
|
rs781603010
|
|
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser)
|
|
|
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser)
|
rs770129454
|
|
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser)
|
|
|
NM_000263.4(NAGLU):c.1540C>G (p.Arg514Gly)
|
|
|
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys)
|
|
|
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
|
|
|
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly)
|
|
|
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser)
|
rs1599261339
|
|
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys)
|
|
|
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val)
|
|
|
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln)
|
|
|
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe)
|
rs2092928280
|
|
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln)
|
|
|
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln)
|
|
|
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr)
|
|
|
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=)
|
|
|
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile)
|
|
|
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr)
|
|
|
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val)
|
|
|
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His)
|
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser)
|
rs2092928703
|
|
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp)
|
rs2092928775
|
|
NM_000263.4(NAGLU):c.1712T>C (p.Leu571Pro)
|
|
|
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly)
|
|
|
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr)
|
|
|
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del)
|
|
|
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys)
|
rs1274337932
|
|
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val)
|
rs886052952
|
|
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
|
rs759978970
|
|
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu)
|
rs759978970
|
|
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met)
|
|
|
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln)
|
|
|
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met)
|
|
|
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)
|
|
|
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe)
|
rs1555622482
|
|
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro)
|
rs2143114107
|
|
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val)
|
|
|
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr)
|
|
|
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val)
|
|
|
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile)
|
|
|
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
|
rs764322586
|
|
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly)
|
|
|
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr)
|
|
|
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu)
|
|
|
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu)
|
|
|
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys)
|
rs2143114630
|
|
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys)
|
|
|
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln)
|
|
|
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr)
|
|
|
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys)
|
|
|
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593
|
|
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp)
|
rs2143114887
|
|
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile)
|
|
|
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro)
|
rs2092930000
|
|
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His)
|
rs1599262171
|
|
NM_000263.4(NAGLU):c.1980C>A (p.Asn660Lys)
|
rs981984204
|
|
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile)
|
rs1358789110
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu)
|
rs2143115795
|
|
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly)
|
|
|
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val)
|
rs1567894363
|
|
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg)
|
|
|
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly)
|
rs2143115890
|
|
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr)
|
|
|
NM_000263.4(NAGLU):c.2054G>T (p.Ser685Ile)
|
|
|
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr)
|
|
|
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val)
|
|
|
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe)
|
rs143906118
|
|
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu)
|
rs2092930476
|
|
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln)
|
rs1038367205
|
|
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn)
|
rs897126193
|
|
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser)
|
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.2123_2205del (p.Phe708fs)
|
|
|
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu)
|
rs139195906
|
|
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile)
|
|
|
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly)
|
rs1482294617
|
|
NM_000263.4(NAGLU):c.2132G>A (p.Ser711Asn)
|
rs2092930722
|
|
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs)
|
|
|
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His)
|
|
|
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser)
|
rs2092930793
|
|
NM_000263.4(NAGLU):c.2150G>C (p.Ser717Thr)
|
rs1014037051
|
|
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)
|
rs1555622589
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu)
|
rs760180817
|
|
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys)
|
rs2143116999
|
|
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
|
rs2092930997
|
|
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter)
|
|
|
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu)
|
|
|
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys)
|
rs86312
|
|
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His)
|
|
|
NM_000263.4(NAGLU):c.2214G>A (p.Trp738Ter)
|
|
|
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met)
|
|
|
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr)
|
|
|
NM_000263.4(NAGLU):c.2225C>G (p.Ser742Cys)
|
|
|
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)
|
rs749371796
|
|
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)
|
rs1555622606
|
|
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)
|
|
|
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr)
|
rs2143077245
|
|
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
|
rs1181544224
|
|
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)
|
|
|
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)
|
|
|
NM_000263.4(NAGLU):c.326G>A (p.Arg109His)
|
rs1224387286
|
|
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)
|
|
|
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu)
|
rs1567890347
|
|
NM_000263.4(NAGLU):c.348C>A (p.Ala116=)
|
|
|
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)
|
|
|
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg)
|
rs1240470839
|
|
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)
|
|
|
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
|
|
|
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)
|
rs796052123
|
|
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del)
|
rs1555621469
|
|
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)
|
|
|
NM_000263.4(NAGLU):c.379A>C (p.Asn127His)
|
rs2143077833
|
|
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser)
|
|
|
NM_000263.4(NAGLU):c.383+3A>G
|
|
|
NM_000263.4(NAGLU):c.383+5C>A
|
rs762932040
|
|
NM_000263.4(NAGLU):c.383+5C>T
|
|
|
NM_000263.4(NAGLU):c.383+6G>T
|
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys)
|
rs762337946
|
|
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met)
|
|
|
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe)
|
rs886043785
|
|
NM_000263.4(NAGLU):c.423_425del (p.Phe142del)
|
rs1555621579
|
|
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val)
|
rs2143082071
|
|
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro)
|
|
|
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
|
|
|
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp)
|
|
|
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu)
|
rs141018386
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu)
|
rs1238423614
|
|
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser)
|
|
|
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met)
|
rs2143082294
|
|
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
|
rs2092910000
|
|
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del)
|
rs1555621605
|
|
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys)
|
|
|
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg)
|
|
|
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser)
|
|
|
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe)
|
|
|
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg)
|
rs1056643237
|
|
NM_000263.4(NAGLU):c.610A>G (p.Met204Val)
|
rs2143086735
|
|
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile)
|
|
|
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala)
|
|
|
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser)
|
rs1291552393
|
|
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val)
|
|
|
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile)
|
rs2143086833
|
|
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser)
|
|
|
NM_000263.4(NAGLU):c.647C>A (p.Pro216His)
|
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro)
|
rs146456266
|
|
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del)
|
rs2143087937
|
|
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro)
|
rs2143088010
|
|
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser)
|
|
|
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser)
|
|
|
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu)
|
|
|
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu)
|
|
|
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro)
|
|
|
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu)
|
|
|
NM_000263.4(NAGLU):c.736G>C (p.Ala246Pro)
|
rs1415169705
|
|
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu)
|
|
|
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile)
|
rs2092914005
|
|
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile)
|
|
|
NM_000263.4(NAGLU):c.763A>C (p.Arg255=)
|
|
|
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp)
|
|
|
NM_000263.4(NAGLU):c.764+5G>A
|
|
|
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr)
|
rs2143088503
|
|
NM_000263.4(NAGLU):c.765-782A>G
|
|
|
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser)
|
|
|
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser)
|
|
|
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala)
|
rs2143097981
|
|
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr)
|
|
|
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys)
|
rs1025860195
|
|
NM_000263.4(NAGLU):c.830_832del (p.Cys277del)
|
rs398123282
|
|
NM_000263.4(NAGLU):c.849G>A (p.Pro283=)
|
|
|
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val)
|
|
|
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu)
|
|
|
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val)
|
rs2143098654
|
|
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn)
|
|
|
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys)
|
|
|
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met)
|
|
|
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
|
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys)
|
rs2143099484
|
|
NM_000263.4(NAGLU):c.949A>G (p.Met317Val)
|
|
|
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile)
|
|
|
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile)
|
|
|
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu)
|
|
|
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe)
|
|
|
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu)
|
|
|
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe)
|
|
|
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr)
|
|
|
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala)
|
|
|