ClinVar Miner

List of variants in gene NAGLU studied for carbohydrate metabolism disease

Included ClinVar conditions (302):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 986
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74899
NM_000263.3(NAGLU):c.-138A>G rs76407245 0.06051
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.02098
NM_000263.3(NAGLU):c.-200G>C rs114904267 0.01366
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_000263.3(NAGLU):c.-144G>A rs538885425 0.00263
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297 0.00252
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_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439 0.00077
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.1983G>A (p.Lys661=) rs181021573 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.764+10C>T rs372400832 0.00026
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=) rs143689867 0.00021
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.1617C>T (p.Ala539=) rs149875730 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.288C>T (p.Phe96=) rs755082293 0.00015
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192 0.00015
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=) rs139195906 0.00014
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) rs866267579 0.00012
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 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.1905C>T (p.Ala635=) rs138324133 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.873C>T (p.Ile291=) rs146734024 0.00008
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=) rs760335984 0.00007
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.1335C>T (p.Pro445=) rs202033889 0.00006
NM_000263.4(NAGLU):c.627C>G (p.Thr209=) rs200496310 0.00006
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=) rs758270880 0.00005
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) rs747529593 0.00005
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=) rs143580194 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.1005T>C (p.Tyr335=) rs756871462 0.00004
NM_000263.4(NAGLU):c.1068C>T (p.His356=) rs753745933 0.00004
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817 0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=) rs763394060 0.00004
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083 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.2220C>T (p.Ala740=) rs756351696 0.00004
NM_000263.4(NAGLU):c.383+7C>T rs768602711 0.00004
NM_000263.4(NAGLU):c.542C>A (p.Ala181Asp) rs149859697 0.00004
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666 0.00004
NM_000263.4(NAGLU):c.648C>G (p.Pro216=) rs755855749 0.00004
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528 0.00004
NM_000263.4(NAGLU):c.1021+8G>T rs749198686 0.00003
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=) rs766094935 0.00003
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr) rs372165410 0.00003
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=) rs376593763 0.00003
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621 0.00003
NM_000263.4(NAGLU):c.1674C>T (p.Tyr558=) rs762031686 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.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) rs774971794 0.00003
NM_000263.4(NAGLU):c.2218G>C (p.Ala740Pro) rs750668298 0.00003
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386 0.00003
NM_000263.4(NAGLU):c.531+10C>T rs373999016 0.00003
NM_000263.4(NAGLU):c.741G>C (p.Gly247=) rs760463334 0.00003
NM_000263.4(NAGLU):c.813T>C (p.Phe271=) rs776459470 0.00003
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) rs750625891 0.00003
NM_000263.4(NAGLU):c.984C>T (p.Ala328=) rs759609134 0.00003
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168 0.00002
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=) rs1412833749 0.00002
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=) rs1447090076 0.00002
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936 0.00002
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=) rs752971320 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.1638T>C (p.Ser546=) rs901311027 0.00002
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly) rs777283283 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) rs750401625 0.00002
NM_000263.4(NAGLU):c.2004C>T (p.Ala668=) rs1306672947 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=) rs750078603 0.00002
NM_000263.4(NAGLU):c.2196C>T (p.Leu732=) rs766039758 0.00002
NM_000263.4(NAGLU):c.417C>T (p.Ser139=) rs766199293 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 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_000263.4(NAGLU):c.729T>G (p.Pro243=) rs941869157 0.00002
NM_000263.4(NAGLU):c.732A>G (p.Ala244=) rs200729468 0.00002
NM_000263.4(NAGLU):c.764+11G>A rs756517376 0.00002
NM_000263.4(NAGLU):c.777G>A (p.Gln259=) rs779208941 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.1021+1G>T rs1447465424 0.00001
NM_000263.4(NAGLU):c.1022-10C>T rs1314987679 0.00001
NM_000263.4(NAGLU):c.1022-4A>G rs748016637 0.00001
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile) rs1469114327 0.00001
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=) rs771833491 0.00001
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg) rs766000735 0.00001
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995 0.00001
NM_000263.4(NAGLU):c.1089C>G (p.Pro363=) rs778956418 0.00001
NM_000263.4(NAGLU):c.1107G>T (p.Val369=) rs1479965895 0.00001
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=) rs1469438575 0.00001
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His) rs768600049 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.1162C>T (p.Gln388Ter) rs879111128 0.00001
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His) rs753409259 0.00001
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=) rs752682040 0.00001
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) rs1485628563 0.00001
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122 0.00001
NM_000263.4(NAGLU):c.1224C>T (p.His408=) rs780376108 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met) rs1237047553 0.00001
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) rs771151036 0.00001
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro) rs1432587285 0.00001
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=) rs775035658 0.00001
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=) rs757069066 0.00001
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val) rs767179184 0.00001
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453 0.00001
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys) rs1183634153 0.00001
NM_000263.4(NAGLU):c.1368C>T (p.Ser456=) rs762502127 0.00001
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856 0.00001
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=) rs752918057 0.00001
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln) rs868244206 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 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.1489C>G (p.Leu497Val) rs1353058781 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.1548G>A (p.Pro516=) rs1318650686 0.00001
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe) rs764446533 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=) rs1439979743 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.1671C>A (p.Arg557=) rs1287450896 0.00001
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=) rs1179779613 0.00001
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=) rs1410332176 0.00001
NM_000263.4(NAGLU):c.1746C>T (p.Ala582=) rs1368697056 0.00001
NM_000263.4(NAGLU):c.1771C>T (p.Leu591=) rs749025581 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.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038 0.00001
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg) rs1197265081 0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037 0.00001
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568 0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) rs746006696 0.00001
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=) rs748402226 0.00001
NM_000263.4(NAGLU):c.1996T>C (p.Leu666=) rs1397893429 0.00001
NM_000263.4(NAGLU):c.2013C>T (p.Tyr671=) rs934112717 0.00001
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=) rs1438567691 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.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.351G>T (p.Val117=) rs1436378685 0.00001
NM_000263.4(NAGLU):c.383+1G>T rs727504028 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.384-16A>T rs768251683 0.00001
NM_000263.4(NAGLU):c.384-1G>A rs764134891 0.00001
NM_000263.4(NAGLU):c.384-8G>A rs746106558 0.00001
NM_000263.4(NAGLU):c.387C>T (p.Tyr129=) rs1453761645 0.00001
NM_000263.4(NAGLU):c.408C>T (p.Cys136=) rs750741772 0.00001
NM_000263.4(NAGLU):c.411G>A (p.Thr137=) rs1464521532 0.00001
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn) rs2092909557 0.00001
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter) rs748042028 0.00001
NM_000263.4(NAGLU):c.459G>A (p.Glu153=) rs746876753 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.556C>T (p.Gln186Ter) rs1270564492 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.607C>T (p.Arg203Ter) rs1279412522 0.00001
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln) rs904118831 0.00001
NM_000263.4(NAGLU):c.645C>T (p.Pro215=) rs2092912974 0.00001
NM_000263.4(NAGLU):c.679-15C>T rs376430265 0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792 0.00001
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601 0.00001
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073 0.00001
NM_000263.4(NAGLU):c.708C>T (p.Phe236=) rs770221835 0.00001
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser) rs1347490896 0.00001
NM_000263.4(NAGLU):c.720A>T (p.Pro240=) rs892493572 0.00001
NM_000263.4(NAGLU):c.735C>T (p.Phe245=) rs539646032 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.764+12C>G rs1002650158 0.00001
NM_000263.4(NAGLU):c.764+15A>G rs1419186153 0.00001
NM_000263.4(NAGLU):c.783T>C (p.Asn261=) rs1275689779 0.00001
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe) rs769713129 0.00001
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480 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.894G>A (p.Glu298=) rs746626709 0.00001
NM_000263.4(NAGLU):c.909T>C (p.Phe303=) rs140386564 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
NM_000263.4(NAGLU):c.999C>T (p.Ala333=) rs959173039 0.00001
NC_000017.10:g.(?_40688281)_(40693234_?)del
NC_000017.10:g.(?_40688291)_(40690793_?)dup
NC_000017.10:g.(?_40689396)_(40690793_?)del
NC_000017.10:g.(?_40690337)_(40690793_?)del
NC_000017.10:g.(?_40690337)_(40690793_?)dup
NC_000017.10:g.(?_40690347)_(40690783_?)del
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.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) rs376090795
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile)
NM_000263.4(NAGLU):c.1017T>C (p.Thr339=) rs2143100146
NM_000263.4(NAGLU):c.1021+11T>A
NM_000263.4(NAGLU):c.1021+13G>C
NM_000263.4(NAGLU):c.1021+15T>C rs149434978
NM_000263.4(NAGLU):c.1021+15T>G rs149434978
NM_000263.4(NAGLU):c.1021+16G>A
NM_000263.4(NAGLU):c.1021+9C>T
NM_000263.4(NAGLU):c.1022-10C>G
NM_000263.4(NAGLU):c.1022-14C>T
NM_000263.4(NAGLU):c.1022-17C>G
NM_000263.4(NAGLU):c.1022-18C>A
NM_000263.4(NAGLU):c.1022-20C>T rs1294766961
NM_000263.4(NAGLU):c.1022-2A>G
NM_000263.4(NAGLU):c.1022-8G>A rs2092925422
NM_000263.4(NAGLU):c.1023G>T (p.Val341=) rs1267291000
NM_000263.4(NAGLU):c.1025del (p.Asp342fs)
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter)
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys)
NM_000263.4(NAGLU):c.1044G>A (p.Leu348=)
NM_000263.4(NAGLU):c.1044G>T (p.Leu348=) rs776863513
NM_000263.4(NAGLU):c.1047C>A (p.Leu349=) rs2143107360
NM_000263.4(NAGLU):c.1050A>G (p.Gln350=)
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.1063del (p.Gln355fs) rs1180591588
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser)
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) rs753454744
NM_000263.4(NAGLU):c.1086G>C (p.Gly362=)
NM_000263.4(NAGLU):c.1086G>T (p.Gly362=)
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs)
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=) rs778956418
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr)
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1095G>A (p.Gln365=)
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala) rs2143107785
NM_000263.4(NAGLU):c.1110G>A (p.Leu370=) rs2143107804
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu)
NM_000263.4(NAGLU):c.1112del (p.Gly371fs) rs1555622250
NM_000263.4(NAGLU):c.1116T>C (p.Ala372=)
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=)
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys)
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe) rs2143107974
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=)
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=)
NM_000263.4(NAGLU):c.1140T>A (p.Val380=)
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.1149G>A (p.Leu383=) rs2143108047
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs) rs2092925958
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) rs1555622266
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs) rs2143108228
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys)
NM_000263.4(NAGLU):c.1177del (p.Arg393fs)
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro)
NM_000263.4(NAGLU):c.1179C>T (p.Arg393=)
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly) rs1599260536
NM_000263.4(NAGLU):c.1188C>T (p.Ser396=) rs2143108378
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)
NM_000263.4(NAGLU):c.1203C>G (p.Pro401=)
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=)
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1238del (p.Asn413fs)
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=)
NM_000263.4(NAGLU):c.1254A>T (p.Gly418=)
NM_000263.4(NAGLU):c.1257C>T (p.Ala419=) rs2143108736
NM_000263.4(NAGLU):c.1263G>A (p.Glu421=)
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr)
NM_000263.4(NAGLU):c.1269G>A (p.Val423=) rs2143108842
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys)
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg)
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala) rs771151036
NM_000263.4(NAGLU):c.1287T>G (p.Ala429=) rs2143108984
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser)
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs) rs2092926507
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=) rs2143109038
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)
NM_000263.4(NAGLU):c.1293C>T (p.Arg431=)
NM_000263.4(NAGLU):c.1296C>T (p.Leu432=)
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=) rs2143109090
NM_000263.4(NAGLU):c.1302C>G (p.Pro434=)
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.1305C>T (p.Asn435=) rs1049139446
NM_000263.4(NAGLU):c.1310C>T (p.Thr437Ile)
NM_000263.4(NAGLU):c.1311C>G (p.Thr437=)
NM_000263.4(NAGLU):c.1311C>T (p.Thr437=) rs2092926617
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg) rs1567893399
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.1323G>A (p.Thr441=) rs751479777
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr)
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile) rs1370763282
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=) rs2143109423
NM_000263.4(NAGLU):c.1335C>G (p.Pro445=)
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1336del (p.Glu446fs) rs2143109467
NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly)
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=) rs2092926773
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=) rs2143109514
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu)
NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter)
NM_000263.4(NAGLU):c.1359G>A (p.Val453=)
NM_000263.4(NAGLU):c.1359G>T (p.Val453=)
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) rs375103824
NM_000263.4(NAGLU):c.1371C>T (p.Leu457=) rs1599260897
NM_000263.4(NAGLU):c.1380G>A (p.Glu460=)
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=) rs1238922003
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.1407A>G (p.Pro469=) rs1567893530
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val)
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter) rs1555622351
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1431C>T (p.Ser477=)
NM_000263.4(NAGLU):c.1437C>A (p.Ala479=) rs752918057
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs) rs1555622354
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val)
NM_000263.4(NAGLU):c.1443G>A (p.Arg481=)
NM_000263.4(NAGLU):c.1444C>A (p.Arg482=)
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.1453dup (p.Val485fs) rs749338526
NM_000263.4(NAGLU):c.1460dup (p.His487fs) rs2143110493
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln) rs965655357
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) rs1396150639
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=)
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu)
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr)
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter)
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.1488A>C (p.Leu496=)
NM_000263.4(NAGLU):c.1489C>T (p.Leu497=) rs1353058781
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro) rs2092927686
NM_000263.4(NAGLU):c.1491G>C (p.Leu497=)
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln)
NM_000263.4(NAGLU):c.1497G>A (p.Arg499=)
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs)
NM_000263.4(NAGLU):c.1500T>C (p.Ser500=) rs1225039564
NM_000263.4(NAGLU):c.1506C>T (p.Tyr502=)
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys) rs781603010
NM_000263.4(NAGLU):c.1509C>T (p.Asn503=)
NM_000263.4(NAGLU):c.1512C>T (p.Cys504=) rs750897125
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser)
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=)
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser) rs770129454
NM_000263.4(NAGLU):c.1533C>T (p.Gly511=) rs768357311
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser)
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=) rs2143111531
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys)
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=) rs2143111572
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly)
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser) rs1599261339
NM_000263.4(NAGLU):c.1547C>T (p.Pro516Leu)
NM_000263.4(NAGLU):c.1549C>T (p.Leu517=)
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys)
NM_000263.4(NAGLU):c.1566C>A (p.Ser522=)
NM_000263.4(NAGLU):c.1569A>G (p.Leu523=)
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter) rs2143111795
NM_000263.4(NAGLU):c.1572G>A (p.Gln524=)
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.1614G>A (p.Glu538=)
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=) rs780527821
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.1623G>T (p.Arg541=)
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=) rs2143112148
NM_000263.4(NAGLU):c.1626G>A (p.Leu542=)
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=) rs2143112209
NM_000263.4(NAGLU):c.1632C>T (p.Leu544=)
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr)
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=) rs2143112304
NM_000263.4(NAGLU):c.1644C>T (p.Pro548=)
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=)
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile)
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=) rs2143112410
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr)
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val)
NM_000263.4(NAGLU):c.1665C>A (p.Ala555=)
NM_000263.4(NAGLU):c.1665C>T (p.Ala555=)
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His)
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn) rs767510451
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr)
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) rs760741593
NM_000263.4(NAGLU):c.1680G>C (p.Leu560=) rs766911974
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro) rs2092928624
NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg) rs2092928624
NM_000263.4(NAGLU):c.1683G>A (p.Leu561=)
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=) rs2143112704
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs)
NM_000263.4(NAGLU):c.1692T>C (p.Thr564=)
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1695G>T (p.Arg565=)
NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter)
NM_000263.4(NAGLU):c.1698G>A (p.Gln566=)
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser) rs2092928703
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=) rs535354102
NM_000263.4(NAGLU):c.1704G>A (p.Val568=)
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) rs1555622441
NM_000263.4(NAGLU):c.1707G>A (p.Gln569=)
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter) rs1555622443
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp) rs2092928775
NM_000263.4(NAGLU):c.1711C>T (p.Leu571=)
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly)
NM_000263.4(NAGLU):c.1719C>T (p.Ser573=)
NM_000263.4(NAGLU):c.1725C>T (p.Tyr575=)
NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=)
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.1764G>A (p.Leu588=)
NM_000263.4(NAGLU):c.1766C>T (p.Ala589Val)
NM_000263.4(NAGLU):c.1767C>A (p.Ala589=)
NM_000263.4(NAGLU):c.1767C>T (p.Ala589=) rs2143113512
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=) rs2143113520
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer) rs2143113566
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys) rs1274337932
NM_000263.4(NAGLU):c.1779G>A (p.Arg593=) rs2143113596
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val) rs886052952
NM_000263.4(NAGLU):c.1782T>A (p.Ala594=)
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=) rs115166595
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.1794G>A (p.Leu598=) rs753170828
NM_000263.4(NAGLU):c.1797C>T (p.Ala599=) rs146715254
NM_000263.4(NAGLU):c.1803G>A (p.Glu601=)
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met)
NM_000263.4(NAGLU):c.1806G>A (p.Leu602=) rs2143113802
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser) rs1347224658
NM_000263.4(NAGLU):c.1812G>A (p.Pro604=)
NM_000263.4(NAGLU):c.1812G>C (p.Pro604=)
NM_000263.4(NAGLU):c.1815A>G (p.Ala605=)
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs) rs2143113857
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln)
NM_000263.4(NAGLU):c.1824G>A (p.Glu608=)
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met)
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=) rs1198292626
NM_000263.4(NAGLU):c.1833T>G (p.Ala611=)
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=)
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) rs1555622482
NM_000263.4(NAGLU):c.1852C>T (p.Leu618=)
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro) rs2143114107
NM_000263.4(NAGLU):c.1857C>T (p.Gly619=)
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val)
NM_000263.4(NAGLU):c.1869G>A (p.Glu623=)
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr)
NM_000263.4(NAGLU):c.1881A>G (p.Ala627=) rs2143114281
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.1890C>G (p.Val630=) rs1281727710
NM_000263.4(NAGLU):c.1890C>T (p.Val630=) rs1281727710
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs) rs1555622505
NM_000263.4(NAGLU):c.1896G>A (p.Glu632=) rs2143114448
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.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter)
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.1929C>A (p.Arg643=)
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp) rs2143114887
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) rs1555622533
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=)
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile)
NM_000263.4(NAGLU):c.1942T>C (p.Leu648=)
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs) rs886039895
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) rs527236038
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=) rs2092929943
NM_000263.4(NAGLU):c.1959C>T (p.Gly653=)
NM_000263.4(NAGLU):c.1965C>A (p.Ile655=) rs1482682282
NM_000263.4(NAGLU):c.1966C>T (p.Leu656=)
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.1977C>T (p.Ala659=)
NM_000263.4(NAGLU):c.1978A>G (p.Asn660Asp)
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=) rs981984204
NM_000263.4(NAGLU):c.1987C>T (p.Leu663=)
NM_000263.4(NAGLU):c.1995del (p.Leu666fs) rs1555622545
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=)
NM_000263.4(NAGLU):c.2001G>A (p.Val667=)
NM_000263.4(NAGLU):c.2004C>A (p.Ala668=)
NM_000263.4(NAGLU):c.2010C>T (p.Tyr670=)
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile) rs1358789110
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
NM_000263.4(NAGLU):c.2022C>T (p.Arg674=) rs2143115704
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.2043G>T (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) rs1567894363
NM_000263.4(NAGLU):c.2044C>T (p.Leu682=)
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) rs2092930339
NM_000263.4(NAGLU):c.2046G>A (p.Leu682=)
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg)
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly) rs2143115890
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs) rs1555622559
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr)
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr)
NM_000263.4(NAGLU):c.2061C>T (p.Ala687=)
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.2066del (p.Gly689fs)
NM_000263.4(NAGLU):c.2067C>T (p.Gly689=)
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val)
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe) rs143906118
NM_000263.4(NAGLU):c.2070C>T (p.Ile690=)
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu) rs2092930476
NM_000263.4(NAGLU):c.2076C>T (p.Phe692=)
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter)
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln) rs1038367205
NM_000263.4(NAGLU):c.2085C>T (p.His695=)
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn) rs897126193
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser)
NM_000263.4(NAGLU):c.2099del (p.Asn700fs)
NM_000263.4(NAGLU):c.2103C>T (p.Val701=) rs2092930566
NM_000263.4(NAGLU):c.2106C>T (p.Phe702=) rs2092930575
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.2137dup (p.Gln713fs)
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His)
NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=)
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser) rs2092930793
NM_000263.4(NAGLU):c.2154G>A (p.Gln718=)
NM_000263.4(NAGLU):c.2157G>T (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) rs1555622589
NM_000263.4(NAGLU):c.2169T>C (p.Thr723=) rs2143116773
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs) rs2143116788
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.2205C>T (p.Tyr735=)
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu)
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly) rs2092931038
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys) rs86312
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His)
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=)
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met)
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr)
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.282C>G (p.Arg94=) rs866267579
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) rs2092906798
NM_000263.4(NAGLU):c.294C>T (p.Gly98=) rs1318421483
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)
NM_000263.4(NAGLU):c.306C>G (p.Ala102=)
NM_000263.4(NAGLU):c.306C>T (p.Ala102=)
NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter) rs2092906864
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) rs1567890328
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr) rs2143077245
NM_000263.4(NAGLU):c.312C>T (p.Ser104=)
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser) rs1181544224
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)
NM_000263.4(NAGLU):c.315C>G (p.Gly105=) rs2143077290
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs) rs2143077277
NM_000263.4(NAGLU):c.318T>G (p.Ser106=)
NM_000263.4(NAGLU):c.321G>A (p.Gln107=) rs779437712
NM_000263.4(NAGLU):c.322C>T (p.Leu108=)
NM_000263.4(NAGLU):c.326G>A (p.Arg109His) rs1224387286
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)
NM_000263.4(NAGLU):c.327C>A (p.Arg109=)
NM_000263.4(NAGLU):c.327C>T (p.Arg109=) rs2143077380
NM_000263.4(NAGLU):c.329dup (p.Pro111fs)
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu) rs1567890347
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del)
NM_000263.4(NAGLU):c.339A>T (p.Pro113=) rs2143077498
NM_000263.4(NAGLU):c.340C>T (p.Leu114=) rs2143077515
NM_000263.4(NAGLU):c.342G>A (p.Leu114=) rs748632325
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu) rs1379877908
NM_000263.4(NAGLU):c.345A>G (p.Pro115=) rs2092906994
NM_000263.4(NAGLU):c.348C>A (p.Ala116=)
NM_000263.4(NAGLU):c.348C>G (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)
NM_000263.4(NAGLU):c.351G>A (p.Val117=)
NM_000263.4(NAGLU):c.354G>A (p.Pro118=)
NM_000263.4(NAGLU):c.354G>C (p.Pro118=) rs745433070
NM_000263.4(NAGLU):c.354G>T (p.Pro118=)
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg) rs1240470839
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
NM_000263.4(NAGLU):c.366C>A (p.Thr122=) rs769313280
NM_000263.4(NAGLU):c.366C>G (p.Thr122=) rs769313280
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.381C>G (p.Asn127Lys) rs965226394
NM_000263.4(NAGLU):c.381C>T (p.Asn127=) rs965226394
NM_000263.4(NAGLU):c.383+10C>G rs1599254060
NM_000263.4(NAGLU):c.383+10C>T rs1599254060
NM_000263.4(NAGLU):c.383+10del
NM_000263.4(NAGLU):c.383+11G>A rs2143078004
NM_000263.4(NAGLU):c.383+13A>G
NM_000263.4(NAGLU):c.383+14G>A
NM_000263.4(NAGLU):c.383+15C>T
NM_000263.4(NAGLU):c.383+16T>A
NM_000263.4(NAGLU):c.383+17T>A
NM_000263.4(NAGLU):c.383+17del
NM_000263.4(NAGLU):c.383+20C>A rs1168068741
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.383+7C>G
NM_000263.4(NAGLU):c.383+8C>G
NM_000263.4(NAGLU):c.384-10C>T rs772996063
NM_000263.4(NAGLU):c.384-11A>G
NM_000263.4(NAGLU):c.384-12C>A
NM_000263.4(NAGLU):c.384-12C>T
NM_000263.4(NAGLU):c.384-15T>A
NM_000263.4(NAGLU):c.384-18T>C
NM_000263.4(NAGLU):c.384-19C>T
NM_000263.4(NAGLU):c.384-3C>A rs1216280532
NM_000263.4(NAGLU):c.384-4G>A rs763057510
NM_000263.4(NAGLU):c.384-4G>T
NM_000263.4(NAGLU):c.384-5C>T rs770061369
NM_000263.4(NAGLU):c.384-8G>T rs746106558
NM_000263.4(NAGLU):c.384-9T>C
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter) rs1453761645
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
NM_000263.4(NAGLU):c.390C>G (p.Arg130=)
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys) rs762337946
NM_000263.4(NAGLU):c.397del (p.Gln133fs)
NM_000263.4(NAGLU):c.402T>C (p.Asn134=)
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met)
NM_000263.4(NAGLU):c.410_413del (p.Thr137fs) rs1460796923
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
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.431G>A (p.Trp144Ter)
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter) rs2092909726
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val) rs2143082071
NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter) rs2143082104
NM_000263.4(NAGLU):c.444C>T (p.Ala148=)
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro)
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
NM_000263.4(NAGLU):c.446del (p.Arg149fs)
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter)
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp)
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter) rs1261241939
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu) rs141018386
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys) rs1352416909
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter)
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp) rs746876753
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.465C>T (p.Asp155=)
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.474G>A (p.Ala158=)
NM_000263.4(NAGLU):c.474G>T (p.Ala158=) rs1052714676
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met) rs2143082294
NM_000263.4(NAGLU):c.480del (p.Asn160fs) rs886039894
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
NM_000263.4(NAGLU):c.483C>T (p.Gly161=)
NM_000263.4(NAGLU):c.489C>T (p.Asn163=) rs2143082353
NM_000263.4(NAGLU):c.490C>T (p.Leu164=)
NM_000263.4(NAGLU):c.490del (p.Leu164fs)
NM_000263.4(NAGLU):c.496C>T (p.Leu166=)
NM_000263.4(NAGLU):c.498G>T (p.Leu166=)
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg) rs2092910000
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser) rs398123281
NM_000263.4(NAGLU):c.507C>T (p.Ser169=)
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del) rs1555621605
NM_000263.4(NAGLU):c.516G>A (p.Glu172=)
NM_000263.4(NAGLU):c.519C>T (p.Ala173=)
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter) rs2143082538
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys)
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg)
NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) rs370523900
NM_000263.4(NAGLU):c.531+10C>G
NM_000263.4(NAGLU):c.531+12C>T rs989825472
NM_000263.4(NAGLU):c.531+15T>C
NM_000263.4(NAGLU):c.531+16C>G
NM_000263.4(NAGLU):c.531+17C>T
NM_000263.4(NAGLU):c.531+1G>A rs1245939928
NM_000263.4(NAGLU):c.531+46_531+75del rs1555621618
NM_000263.4(NAGLU):c.531+8C>T
NM_000263.4(NAGLU):c.531+9C>G rs2143082621
NM_000263.4(NAGLU):c.532-11T>C rs977518446
NM_000263.4(NAGLU):c.532-11T>G
NM_000263.4(NAGLU):c.532-14C>T
NM_000263.4(NAGLU):c.532-18T>C
NM_000263.4(NAGLU):c.532-19G>T
NM_000263.4(NAGLU):c.532-1G>A rs2143086378
NM_000263.4(NAGLU):c.532-1G>C rs2143086378
NM_000263.4(NAGLU):c.532-6C>T
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs) rs1567891258
NM_000263.4(NAGLU):c.537C>T (p.Tyr179=)
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser)
NM_000263.4(NAGLU):c.543C>G (p.Ala181=)
NM_000263.4(NAGLU):c.543C>T (p.Ala181=) rs2143086433
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe)
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg) rs1056643237
NM_000263.4(NAGLU):c.549C>G (p.Gly183=)
NM_000263.4(NAGLU):c.549C>T (p.Gly183=)
NM_000263.4(NAGLU):c.555C>G (p.Thr185=)
NM_000263.4(NAGLU):c.576C>T (p.Phe192=)
NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu) rs1599255987
NM_000263.4(NAGLU):c.588T>G (p.Pro196=)
NM_000263.4(NAGLU):c.594C>T (p.Phe198=)
NM_000263.4(NAGLU):c.595del (p.Leu199fs)
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter) rs2143086665
NM_000263.4(NAGLU):c.606G>A (p.Gly202=)
NM_000263.4(NAGLU):c.607C>A (p.Arg203=)
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.615C>T (p.Gly205=)
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser) rs1291552393
NM_000263.4(NAGLU):c.618C>T (p.Asn206=) rs2143086786
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val)
NM_000263.4(NAGLU):c.619C>T (p.Leu207=) rs1052395549
NM_000263.4(NAGLU):c.621G>A (p.Leu207=)
NM_000263.4(NAGLU):c.623_626dup (p.Trp210fs) rs2143086826
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile) rs2143086833
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter) rs2092912895
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
NM_000263.4(NAGLU):c.640dup (p.Leu214fs) rs2143086910
NM_000263.4(NAGLU):c.641del (p.Leu214fs)
NM_000263.4(NAGLU):c.642G>A (p.Leu214=) rs1555621747
NM_000263.4(NAGLU):c.642dup (p.Pro215fs) rs2092912932
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser)
NM_000263.4(NAGLU):c.647C>A (p.Pro216His)
NM_000263.4(NAGLU):c.648C>A (p.Pro216=)
NM_000263.4(NAGLU):c.648del (p.Ser217fs) rs760370189
NM_000263.4(NAGLU):c.648dup (p.Ser217fs) rs760370189
NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter)
NM_000263.4(NAGLU):c.657C>T (p.His219=) rs779235263
NM_000263.4(NAGLU):c.660C>A (p.Ile220=)
NM_000263.4(NAGLU):c.663G>A (p.Lys221=)
NM_000263.4(NAGLU):c.672C>T (p.Tyr224=)
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
NM_000263.4(NAGLU):c.678+10T>C
NM_000263.4(NAGLU):c.678+17G>A
NM_000263.4(NAGLU):c.678+1G>A rs2143087145
NM_000263.4(NAGLU):c.678+7G>C
NM_000263.4(NAGLU):c.678+8G>A rs2143087168
NM_000263.4(NAGLU):c.678+8del
NM_000263.4(NAGLU):c.679-11T>G
NM_000263.4(NAGLU):c.679-15_679-12del
NM_000263.4(NAGLU):c.679-16C>G
NM_000263.4(NAGLU):c.679-16C>T
NM_000263.4(NAGLU):c.679-18T>A
NM_000263.4(NAGLU):c.679-19C>G
NM_000263.4(NAGLU):c.679-19C>T
NM_000263.4(NAGLU):c.679-20C>T
NM_000263.4(NAGLU):c.679-5T>C rs2143087834
NM_000263.4(NAGLU):c.679-6C>T
NM_000263.4(NAGLU):c.679-7C>T
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.684G>A (p.Arg228=)
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del) rs2143087937
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly) rs104894601
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu) rs886042073
NM_000263.4(NAGLU):c.702C>T (p.Arg234=) rs2092913790
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro) rs2143088010
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser)
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer)
NM_000263.4(NAGLU):c.713del (p.Met238fs) rs2143088088
NM_000263.4(NAGLU):c.717C>T (p.Thr239=)
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser)
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu)
NM_000263.4(NAGLU):c.720A>C (p.Pro240=) rs892493572
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu)
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro)
NM_000263.4(NAGLU):c.732A>C (p.Ala244=) rs200729468
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu)
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs)
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu)
NM_000263.4(NAGLU):c.738G>A (p.Ala246=)
NM_000263.4(NAGLU):c.738G>C (p.Ala246=)
NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp)
NM_000263.4(NAGLU):c.741del (p.His248fs)
NM_000263.4(NAGLU):c.744T>C (p.His248=)
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile) rs2092914005
NM_000263.4(NAGLU):c.750C>G (p.Pro250=) rs539019626
NM_000263.4(NAGLU):c.756T>G (p.Ala252=) rs752423543
NM_000263.4(NAGLU):c.759C>T (p.Val253=)
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile)
NM_000263.4(NAGLU):c.762C>A (p.Thr254=)
NM_000263.4(NAGLU):c.762C>T (p.Thr254=)
NM_000263.4(NAGLU):c.763A>C (p.Arg255=)
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp)
NM_000263.4(NAGLU):c.764+10C>G
NM_000263.4(NAGLU):c.764+14C>T
NM_000263.4(NAGLU):c.764+16C>T
NM_000263.4(NAGLU):c.764+17C>T
NM_000263.4(NAGLU):c.764+19C>A rs77738617
NM_000263.4(NAGLU):c.764+19C>T rs77738617
NM_000263.4(NAGLU):c.764+20C>A
NM_000263.4(NAGLU):c.764+20del
NM_000263.4(NAGLU):c.764+2T>C
NM_000263.4(NAGLU):c.764+5G>A
NM_000263.4(NAGLU):c.764+8T>C rs2143088553
NM_000263.4(NAGLU):c.764+9C>T
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr) rs2143088503
NM_000263.4(NAGLU):c.765-12G>C
NM_000263.4(NAGLU):c.765-14T>C
NM_000263.4(NAGLU):c.765-16T>C rs1006672054
NM_000263.4(NAGLU):c.765-17C>T
NM_000263.4(NAGLU):c.765-4C>T rs755356822
NM_000263.4(NAGLU):c.765-5A>G
NM_000263.4(NAGLU):c.765-5A>T
NM_000263.4(NAGLU):c.768G>A (p.Val256=) rs2092919944
NM_000263.4(NAGLU):c.771C>T (p.Phe257=) rs1599258298
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser)
NM_000263.4(NAGLU):c.780C>A (p.Val260=)
NM_000263.4(NAGLU):c.780C>T (p.Val260=) rs1411789843
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser)
NM_000263.4(NAGLU):c.786C>T (p.Val262=) rs1599258325
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala) rs2143097981
NM_000263.4(NAGLU):c.789G>A (p.Thr263=) rs746543896
NM_000263.4(NAGLU):c.792G>A (p.Lys264=) rs2092920064
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs) rs1555622000
NM_000263.4(NAGLU):c.801T>C (p.Ser267=) rs2143098123
NM_000263.4(NAGLU):c.807C>T (p.Gly269=) rs2092920125
NM_000263.4(NAGLU):c.809del (p.His270fs) rs1555622002
NM_000263.4(NAGLU):c.814_820dup (p.Ser274Ter)
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr)
NM_000263.4(NAGLU):c.820del (p.Ser274fs) rs1452185692
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.831C>T (p.Cys277=) rs1555622008
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs) rs756865833
NM_000263.4(NAGLU):c.843G>C (p.Leu281=) rs2143098501
NM_000263.4(NAGLU):c.849G>A (p.Pro283=)
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val)
NM_000263.4(NAGLU):c.855C>T (p.Asp285=)
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu)
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val) rs2143098654
NM_000263.4(NAGLU):c.867del (p.Ile290fs) rs1555622019
NM_000263.4(NAGLU):c.870C>T (p.Ile290=)
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu) rs1209988199
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn)
NM_000263.4(NAGLU):c.882C>T (p.Leu294=)
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys)
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met)
NM_000263.4(NAGLU):c.886C>T (p.Leu296=)
NM_000263.4(NAGLU):c.886del (p.Leu296fs) rs752131463
NM_000263.4(NAGLU):c.888G>A (p.Leu296=) rs2143098928
NM_000263.4(NAGLU):c.897G>T (p.Leu299=) rs2143098987
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs) rs2092920511
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His) rs2143099180
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) rs1305299665
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe) rs1305299665
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=) rs1599258507
NM_000263.4(NAGLU):c.930G>A (p.Gly310=)
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.933C>T (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
NM_000263.4(NAGLU):c.939T>A (p.Thr313=)
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val) rs104894600
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser) rs1181487342
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.953_957del (p.Gln318fs) rs2143099555
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu)
NM_000263.4(NAGLU):c.957A>T (p.Pro319=) rs2143099579
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu)
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe)
NM_000263.4(NAGLU):c.963C>A (p.Ser321=) rs760910696
NM_000263.4(NAGLU):c.966A>C (p.Ser322=)
NM_000263.4(NAGLU):c.969G>A (p.Glu323=) rs1474272372
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu)
NM_000263.4(NAGLU):c.975C>A (p.Ser325=)
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe)
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr)
NM_000263.4(NAGLU):c.987A>G (p.Ala329=) rs2143099825
NM_000263.4(NAGLU):c.990C>T (p.Ala330=)
NM_000263.4(NAGLU):c.993C>G (p.Thr331=)
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala)
NM_000263.4(NAGLU):c.996T>C (p.Thr332=) rs764483473
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs)
NM_000263.4(NAGLU):c.[2020C>T];[680A>C]

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