ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1151
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99496
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.01972
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 0.00463
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297 0.00252
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00228
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00177
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00084
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439 0.00077
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573 0.00063
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665 0.00062
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) rs530062090 0.00055
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267 0.00050
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.170C>G (p.Ala57Gly) rs181735466 0.00032
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.2043G>A (p.Ala681=) rs115401566 0.00021
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=) rs143689867 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.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=) rs139195906 0.00013
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) rs866267579 0.00012
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys) rs1272515676 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn) rs367726645 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.258C>T (p.Ala86=) rs1381587394 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.873C>T (p.Ile291=) rs146734024 0.00009
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=) rs369789056 0.00008
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=) rs760335984 0.00007
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln) rs377282648 0.00007
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser) rs1455536725 0.00007
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr) rs752264680 0.00007
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.1622G>A (p.Arg541Gln) rs376300258 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.1694G>A (p.Arg565Gln) rs104894598 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.2125G>A (p.Val709Ile) rs781410675 0.00005
NM_000263.4(NAGLU):c.750C>T (p.Pro250=) rs539019626 0.00005
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr) rs371351618 0.00005
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro) rs1246249632 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.1717A>G (p.Ser573Gly) rs369131160 0.00004
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=) rs763394060 0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp) rs929286583 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.362T>C (p.Leu121Pro) rs1449437603 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.1023G>T (p.Val341=) rs1267291000 0.00003
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys) rs534847909 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.1291C>T (p.Arg431Cys) rs759041924 0.00003
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val) rs767179184 0.00003
NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu) rs104894599 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.1541G>A (p.Arg514His) rs771560656 0.00003
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00003
NM_000263.4(NAGLU):c.1674C>T (p.Tyr558=) rs762031686 0.00003
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr) rs973885994 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.1899C>T (p.Ala633=) rs767268083 0.00003
NM_000263.4(NAGLU):c.199C>T (p.Leu67=) rs920631661 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.235G>A (p.Gly79Ser) rs1276484671 0.00003
NM_000263.4(NAGLU):c.255C>T (p.Ala85=) rs1229160465 0.00003
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe) rs1032042327 0.00003
NM_000263.4(NAGLU):c.383+3A>G rs973544618 0.00003
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386 0.00003
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val) rs575956298 0.00003
NM_000263.4(NAGLU):c.531+10C>T rs373999016 0.00003
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly) rs904902945 0.00003
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile) rs374904049 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.849G>A (p.Pro283=) rs201374620 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.1005T>C (p.Tyr335=) rs756871462 0.00002
NM_000263.4(NAGLU):c.1021+9C>T rs774127914 0.00002
NM_000263.4(NAGLU):c.1050A>G (p.Gln350=) rs1036664928 0.00002
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=) rs1412833749 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.1508A>G (p.Asn503Ser) rs757325483 0.00002
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln) rs1207098238 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.1883C>T (p.Ala628Val) rs535336259 0.00002
NM_000263.4(NAGLU):c.198C>T (p.Ser66=) rs1208771812 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.366C>G (p.Thr122=) rs769313280 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.472G>T (p.Ala158Ser) rs542076832 0.00002
NM_000263.4(NAGLU):c.531+12C>T rs989825472 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.764+17C>T rs749680536 0.00002
NM_000263.4(NAGLU):c.777G>A (p.Gln259=) rs779208941 0.00002
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser) rs771770163 0.00002
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala) rs1396937813 0.00002
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) rs768918822 0.00001
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) rs376090795 0.00001
NM_000263.4(NAGLU):c.1022-10C>T rs1314987679 0.00001
NM_000263.4(NAGLU):c.1022-14C>T rs778712352 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.1052G>C (p.Gly351Ala) rs376582504 0.00001
NM_000263.4(NAGLU):c.105C>T (p.Leu35=) rs954871115 0.00001
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg) rs766000735 0.00001
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) rs753454744 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.1090G>A (p.Ala364Thr) rs1459252305 0.00001
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser) rs2092906065 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.112C>T (p.Arg38Trp) rs1460260015 0.00001
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His) rs199850748 0.00001
NM_000263.4(NAGLU):c.114G>C (p.Arg38=) rs2092906079 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.1192C>A (p.Gln398Lys) rs553293896 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.1203C>G (p.Pro401=) rs1264683485 0.00001
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122 0.00001
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.1254A>T (p.Gly418=) rs374706006 0.00001
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met) rs1237047553 0.00001
NM_000263.4(NAGLU):c.126A>G (p.Pro42=) rs1463936178 0.00001
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg) rs922118065 0.00001
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) rs771151036 0.00001
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=) rs1447090076 0.00001
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys) rs1049139446 0.00001
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=) rs775035658 0.00001
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=) rs751479777 0.00001
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=) rs757069066 0.00001
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu) rs1213961819 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.135G>C (p.Ala45=) rs2092906139 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.1405C>G (p.Pro469Ala) rs894998392 0.00001
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=) rs752918057 0.00001
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val) rs777931564 0.00001
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln) rs868244206 0.00001
NM_000263.4(NAGLU):c.1443G>A (p.Arg481=) rs2092927319 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 0.00001
NM_000263.4(NAGLU):c.144C>T (p.Phe48=) rs104894599 0.00001
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu) rs748902330 0.00001
NM_000263.4(NAGLU):c.147C>T (p.Ser49=) rs1312501106 0.00001
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met) rs1167097629 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.1496G>A (p.Arg499Gln) rs368183484 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.1538A>G (p.Asn513Ser) rs200465065 0.00001
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys) rs747653638 0.00001
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=) rs1318650686 0.00001
NM_000263.4(NAGLU):c.154G>A (p.Val52Met) rs794726880 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.159G>A (p.Glu53=) rs910639529 0.00001
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe) rs2092928280 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.1639G>A (p.Ala547Thr) rs746486630 0.00001
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr) rs1384289050 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.1663G>A (p.Ala555Thr) rs745703132 0.00001
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His) rs774472259 0.00001
NM_000263.4(NAGLU):c.1671C>A (p.Arg557=) rs1287450896 0.00001
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) rs760741593 0.00001
NM_000263.4(NAGLU):c.1698G>A (p.Gln566=) rs1175988116 0.00001
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=) rs535354102 0.00001
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=) rs1179779613 0.00001
NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=) rs928665834 0.00001
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=) rs1410332176 0.00001
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr) rs144238669 0.00001
NM_000263.4(NAGLU):c.1746C>T (p.Ala582=) rs1368697056 0.00001
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg) rs1217324478 0.00001
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met) rs1217324478 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.1782T>A (p.Ala594=) rs369093233 0.00001
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg) rs773277748 0.00001
NM_000263.4(NAGLU):c.180G>A (p.Pro60=) rs1449219265 0.00001
NM_000263.4(NAGLU):c.1812G>A (p.Pro604=) rs756855449 0.00001
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys) rs756138287 0.00001
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln) rs756138287 0.00001
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met) rs1304820983 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.1888G>A (p.Val630Ile) rs764322586 0.00001
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly) rs751264692 0.00001
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly) rs1264514990 0.00001
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn) rs1227171021 0.00001
NM_000263.4(NAGLU):c.18G>C (p.Val6=) rs1599253491 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593 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.1959C>T (p.Gly653=) rs2092929981 0.00001
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568 0.00001
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=) rs981984204 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.2059G>A (p.Ala687Thr) rs1422268859 0.00001
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val) rs143906118 0.00001
NM_000263.4(NAGLU):c.207C>T (p.Gly69=) rs1476832275 0.00001
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter) rs2092930484 0.00001
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr) rs146582131 0.00001
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser) rs1567894405 0.00001
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His) rs754927686 0.00001
NM_000263.4(NAGLU):c.210C>T (p.Gly70=) rs1201471385 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala) rs1329966515 0.00001
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr) rs887004958 0.00001
NM_000263.4(NAGLU):c.2196C>T (p.Leu732=) rs766039758 0.00001
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu) rs776069611 0.00001
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His) rs373898536 0.00001
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met) rs1488990082 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.2229G>A (p.Trp743Ter) rs749371796 0.00001
NM_000263.4(NAGLU):c.228G>A (p.Arg76=) rs1220553522 0.00001
NM_000263.4(NAGLU):c.231G>C (p.Val77=) rs949225882 0.00001
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala) rs2092906625 0.00001
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met) rs2092906632 0.00001
NM_000263.4(NAGLU):c.24G>A (p.Ala8=) rs2143075127 0.00001
NM_000263.4(NAGLU):c.261G>C (p.Ala87=) rs1452325580 0.00001
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg) rs1227387097 0.00001
NM_000263.4(NAGLU):c.270C>T (p.His90=) rs1360267129 0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=) rs753801626 0.00001
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val) rs1285791183 0.00001
NM_000263.4(NAGLU):c.28G>A (p.Val10Met) rs1248922504 0.00001
NM_000263.4(NAGLU):c.2T>G (p.Met1Arg) rs1013345784 0.00001
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg) rs1223158492 0.00001
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val) rs1217361905 0.00001
NM_000263.4(NAGLU):c.351G>T (p.Val117=) rs1436378685 0.00001
NM_000263.4(NAGLU):c.36C>T (p.Val12=) rs1216969402 0.00001
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu) rs2092907140 0.00001
NM_000263.4(NAGLU):c.383+16T>A rs1165932919 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.388C>T (p.Arg130Cys) rs2092909477 0.00001
NM_000263.4(NAGLU):c.408C>T (p.Cys136=) rs750741772 0.00001
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met) rs534663244 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.423_425del (p.Phe142del) rs1555621579 0.00001
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter) rs748042028 0.00001
NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro) rs1280690494 0.00001
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter) rs1352416909 0.00001
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr) rs770684838 0.00001
NM_000263.4(NAGLU):c.48C>T (p.Ala16=) rs1312488945 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.531+16C>G rs371069569 0.00001
NM_000263.4(NAGLU):c.531+17C>T rs1370631781 0.00001
NM_000263.4(NAGLU):c.532-11T>G rs977518446 0.00001
NM_000263.4(NAGLU):c.532-18T>C rs778988299 0.00001
NM_000263.4(NAGLU):c.532-6C>T rs2510653141 0.00001
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu) rs765009822 0.00001
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val) rs1344891508 0.00001
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg) rs762576999 0.00001
NM_000263.4(NAGLU):c.606G>A (p.Gly202=) rs113826639 0.00001
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter) rs1279412522 0.00001
NM_000263.4(NAGLU):c.63G>A (p.Ala21=) rs564850299 0.00001
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser) rs1232044690 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.679-18T>A rs2510653764 0.00001
NM_000263.4(NAGLU):c.684G>A (p.Arg228=) rs2510653790 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.719C>T (p.Pro240Leu) rs1221009492 0.00001
NM_000263.4(NAGLU):c.720A>T (p.Pro240=) rs892493572 0.00001
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu) rs2092913856 0.00001
NM_000263.4(NAGLU):c.735C>T (p.Phe245=) rs539646032 0.00001
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu) rs1405289098 0.00001
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val) rs1405289098 0.00001
NM_000263.4(NAGLU):c.738G>A (p.Ala246=) rs773222814 0.00001
NM_000263.4(NAGLU):c.741G>C (p.Gly247=) rs760463334 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.761C>T (p.Thr254Ile) rs751812997 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.764+16C>T rs780594825 0.00001
NM_000263.4(NAGLU):c.764+2T>C rs2092914076 0.00001
NM_000263.4(NAGLU):c.764+5G>A rs2092914089 0.00001
NM_000263.4(NAGLU):c.780C>A (p.Val260=) rs1411789843 0.00001
NM_000263.4(NAGLU):c.783T>C (p.Asn261=) rs1275689779 0.00001
NM_000263.4(NAGLU):c.81G>C (p.Arg27=) rs1021204618 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.87G>A (p.Ala29=) rs2092905997 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.930G>A (p.Gly310=) rs1246139842 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000263.4(NAGLU):c.93C>T (p.Ala31=) rs1182949586 0.00001
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) rs118204025 0.00001
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu) rs2092920790 0.00001
NM_000263.4(NAGLU):c.969G>A (p.Glu323=) rs1474272372 0.00001
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr) rs765774149 0.00001
NM_000263.4(NAGLU):c.990C>T (p.Ala330=) rs1051441744 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.(?_40688291)_(40729741_?)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.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile) rs1196007331
NM_000263.4(NAGLU):c.1017T>C (p.Thr339=) rs2143100146
NM_000263.4(NAGLU):c.1021+11T>A rs2510656847
NM_000263.4(NAGLU):c.1021+13G>C rs1435743049
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 rs776803954
NM_000263.4(NAGLU):c.1021+18G>A
NM_000263.4(NAGLU):c.1022-10C>G rs1314987679
NM_000263.4(NAGLU):c.1022-13C>G
NM_000263.4(NAGLU):c.1022-17C>G rs1301034113
NM_000263.4(NAGLU):c.1022-18C>A rs779669670
NM_000263.4(NAGLU):c.1022-18C>G
NM_000263.4(NAGLU):c.1022-20C>T rs1294766961
NM_000263.4(NAGLU):c.1022-2A>G rs2510658575
NM_000263.4(NAGLU):c.1022-8G>A rs2092925422
NM_000263.4(NAGLU):c.1025del (p.Asp342fs) rs2510658578
NM_000263.4(NAGLU):c.1029T>G (p.Thr343=)
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe) rs2143075651
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter) rs2510658609
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys) rs2510658609
NM_000263.4(NAGLU):c.1043T>G (p.Leu348Arg) rs2092925480
NM_000263.4(NAGLU):c.1044G>A (p.Leu348=) rs776863513
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.1057C>G (p.Leu353Val) rs1417836116
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter) rs774687078
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) rs1180591588
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser) rs2510658718
NM_000263.4(NAGLU):c.1083G>T (p.Trp361Cys)
NM_000263.4(NAGLU):c.1086G>C (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.1086G>T (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs) rs2510658779
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=) rs778956418
NM_000263.4(NAGLU):c.108G>T (p.Val36=) rs2092906054
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=) rs754764611
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) rs2510658889
NM_000263.4(NAGLU):c.1116T>C (p.Ala372=) rs1184145784
NM_000263.4(NAGLU):c.111C>G (p.Ala37=) rs2143075712
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=) rs780139603
NM_000263.4(NAGLU):c.1128C>T (p.Gly376=)
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe) rs2143107974
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=) rs2510658966
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=) rs2510658966
NM_000263.4(NAGLU):c.1137G>A (p.Leu379=)
NM_000263.4(NAGLU):c.1140T>A (p.Val380=) rs2510658988
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val) rs2510658997
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.115C>T (p.Leu39=) rs2143075772
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs) rs2092925958
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys) rs2510659057
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs) rs2143108228
NM_000263.4(NAGLU):c.1177del (p.Arg393fs) rs2510659075
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro) rs753409259
NM_000263.4(NAGLU):c.1179C>T (p.Arg393=) rs2510659092
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) rs2510659111
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro) rs2510659133
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg) rs2510649903
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe) rs1488695477
NM_000263.4(NAGLU):c.120G>A (p.Leu40=) rs2143075800
NM_000263.4(NAGLU):c.120G>T (p.Leu40=) rs2143075800
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=) rs2510659158
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln) rs780376108
NM_000263.4(NAGLU):c.1224C>T (p.His408=) rs780376108
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr) rs574688121
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1238del (p.Asn413fs) rs2510659172
NM_000263.4(NAGLU):c.123G>T (p.Gly41=) rs1170826218
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=) rs1328307777
NM_000263.4(NAGLU):c.1254A>G (p.Gly418=)
NM_000263.4(NAGLU):c.1257C>T (p.Ala419=) rs2143108736
NM_000263.4(NAGLU):c.1263G>A (p.Glu421=) rs2510659200
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr) rs1360051608
NM_000263.4(NAGLU):c.1269G>A (p.Val423=) rs2143108842
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys) rs200715586
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) rs776375237
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.1293C>T (p.Arg431=) rs2510659250
NM_000263.4(NAGLU):c.1296C>T (p.Leu432=) rs930790545
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=) rs2143109090
NM_000263.4(NAGLU):c.129C>A (p.Gly43=) rs2510649920
NM_000263.4(NAGLU):c.12G>A (p.Val4=) rs2510649512
NM_000263.4(NAGLU):c.1302C>G (p.Pro434=) rs2510659265
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>T (p.Asn435=) rs1049139446
NM_000263.4(NAGLU):c.1311C>G (p.Thr437=) rs2092926617
NM_000263.4(NAGLU):c.1311C>T (p.Thr437=) rs2092926617
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg) rs2143109259
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr) rs1299459381
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile) rs1370763282
NM_000263.4(NAGLU):c.132C>A (p.Pro44=) rs1489090930
NM_000263.4(NAGLU):c.132C>G (p.Pro44=) rs1489090930
NM_000263.4(NAGLU):c.1331C>G (p.Ala444Gly)
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=) rs2143109423
NM_000263.4(NAGLU):c.1335C>G (p.Pro445=) rs202033889
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) rs2510659337
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>T (p.Gln450Ter) rs1213961819
NM_000263.4(NAGLU):c.1359G>A (p.Val453=) rs771329501
NM_000263.4(NAGLU):c.1359G>T (p.Val453=) rs771329501
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser) rs375103824
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) rs375103824
NM_000263.4(NAGLU):c.136del (p.Ala46fs) rs2143075902
NM_000263.4(NAGLU):c.1371C>T (p.Leu457=) rs1599260897
NM_000263.4(NAGLU):c.1380G>A (p.Glu460=) rs1439241856
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=) rs1238922003
NM_000263.4(NAGLU):c.138C>A (p.Ala46=) rs2143075937
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro) rs377282648
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=) rs1567893530
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val) rs1599260989
NM_000263.4(NAGLU):c.141C>T (p.Asp47=) rs2143075952
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1429A>C (p.Ser477Arg)
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu) rs118204024
NM_000263.4(NAGLU):c.1431C>T (p.Ser477=) rs2510659469
NM_000263.4(NAGLU):c.1437C>A (p.Ala479=) rs752918057
NM_000263.4(NAGLU):c.1444C>A (p.Arg482=) rs104894596
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) rs104894599
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu) rs1332288767
NM_000263.4(NAGLU):c.1453dup (p.Val485fs) rs749338526
NM_000263.4(NAGLU):c.145_147del (p.Ser49del) rs2092906185
NM_000263.4(NAGLU):c.1460dup (p.His487fs) rs2143110493
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln) rs965655357
NM_000263.4(NAGLU):c.1464G>T (p.Pro488=)
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe) rs987612260
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=) rs2143110660
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu) rs771970841
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr) rs2092927569
NM_000263.4(NAGLU):c.147C>G (p.Ser49=) rs1312501106
NM_000263.4(NAGLU):c.147del (p.Val50fs) rs2510649972
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter) rs1165365401
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys) rs1167097629
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser) rs2143110806
NM_000263.4(NAGLU):c.1488A>C (p.Leu496=) rs752971320
NM_000263.4(NAGLU):c.1489C>T (p.Leu497=) rs1353058781
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu) rs2510649976
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro) rs2092927686
NM_000263.4(NAGLU):c.1491G>C (p.Leu497=) rs2510659683
NM_000263.4(NAGLU):c.1497G>A (p.Arg499=) rs1325481291
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs) rs1884683982
NM_000263.4(NAGLU):c.1500T>C (p.Ser500=) rs1225039564
NM_000263.4(NAGLU):c.1506C>T (p.Tyr502=) rs1348547753
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys) rs781603010
NM_000263.4(NAGLU):c.1509C>T (p.Asn503=) rs781603010
NM_000263.4(NAGLU):c.1512C>T (p.Cys504=) rs750897125
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser) rs1187121246
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=) rs1435687913
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.1539T>C (p.Asn513=) rs2143111531
NM_000263.4(NAGLU):c.153G>C (p.Ser51=) rs2143076082
NM_000263.4(NAGLU):c.153G>T (p.Ser51=) rs2143076082
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=) rs2143111572
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly) rs2510659794
NM_000263.4(NAGLU):c.1549C>T (p.Leu517=) rs2510659804
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys) rs1218110405
NM_000263.4(NAGLU):c.1566C>A (p.Ser522=) rs2510659832
NM_000263.4(NAGLU):c.1569A>G (p.Leu523=) rs2510659838
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter) rs2143111795
NM_000263.4(NAGLU):c.1572G>A (p.Gln524=) rs2510659844
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val) rs1042714332
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln) rs767597884
NM_000263.4(NAGLU):c.15G>A (p.Ala5=) rs2092905675
NM_000263.4(NAGLU):c.15G>T (p.Ala5=) rs2092905675
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln) rs2510659918
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=) rs2092928338
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=) rs780527821
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=) rs146438251
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=) rs2143112148
NM_000263.4(NAGLU):c.1626G>A (p.Leu542=) rs2510659987
NM_000263.4(NAGLU):c.162C>A (p.Arg54=)
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=) rs2143112209
NM_000263.4(NAGLU):c.1632C>T (p.Leu544=) rs2143112209
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=) rs2143112304
NM_000263.4(NAGLU):c.1644C>T (p.Pro548=) rs2143112304
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro) rs2510660046
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=) rs771056028
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile) rs370718304
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=) rs2143112410
NM_000263.4(NAGLU):c.165T>C (p.Ala55=) rs2510650026
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val) rs2510660080
NM_000263.4(NAGLU):c.1665C>A (p.Ala555=) rs1217927919
NM_000263.4(NAGLU):c.1665C>T (p.Ala555=) rs1217927919
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr) rs767510451
NM_000263.4(NAGLU):c.1680G>C (p.Leu560=) rs766911974
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val) rs1335776131
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=) rs2510660112
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=) rs2143112704
NM_000263.4(NAGLU):c.1689C>G (p.Leu563=)
NM_000263.4(NAGLU):c.168G>A (p.Leu56=)
NM_000263.4(NAGLU):c.168G>C (p.Leu56=) rs2092906262
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs) rs2510660121
NM_000263.4(NAGLU):c.1692T>C (p.Thr564=) rs2510660127
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=) rs2510660138
NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter) rs2510660141
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser) rs2092928703
NM_000263.4(NAGLU):c.1704G>A (p.Val568=) rs2510660165
NM_000263.4(NAGLU):c.1707G>A (p.Gln569=) rs2092928747
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp) rs2092928775
NM_000263.4(NAGLU):c.1711C>T (p.Leu571=) rs2510660184
NM_000263.4(NAGLU):c.1719C>T (p.Ser573=) rs1474571888
NM_000263.4(NAGLU):c.1725C>T (p.Tyr575=) rs2510660208
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro) rs973885994
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr) rs2510660224
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del) rs2510660229
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.1764G>A (p.Leu588=) rs2510660261
NM_000263.4(NAGLU):c.1766C>T (p.Ala589Val) rs775300265
NM_000263.4(NAGLU):c.1767C>A (p.Ala589=) rs2143113512
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.177G>A (p.Lys59=) rs1288446882
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=) rs763854864
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met) rs2510660386
NM_000263.4(NAGLU):c.1806G>A (p.Leu602=) rs2143113802
NM_000263.4(NAGLU):c.180G>C (p.Pro60=) rs1449219265
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser) rs1347224658
NM_000263.4(NAGLU):c.1812G>C (p.Pro604=) rs756855449
NM_000263.4(NAGLU):c.1815A>G (p.Ala605=) rs2510660414
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs) rs2143113857
NM_000263.4(NAGLU):c.1824G>A (p.Glu608=) rs2510660426
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met) rs1198292626
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=) rs1198292626
NM_000263.4(NAGLU):c.1833T>G (p.Ala611=) rs2510660447
NM_000263.4(NAGLU):c.1835G>A (p.Ser612Asn)
NM_000263.4(NAGLU):c.183C>A (p.Gly61=) rs2143076268
NM_000263.4(NAGLU):c.183C>G (p.Gly61=) rs2143076268
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=) rs2092929323
NM_000263.4(NAGLU):c.184T>C (p.Leu62=) rs2510650068
NM_000263.4(NAGLU):c.1852C>T (p.Leu618=) rs2510660460
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro) rs2143114107
NM_000263.4(NAGLU):c.1857C>T (p.Gly619=) rs2510660469
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val) rs2510660483
NM_000263.4(NAGLU):c.1869G>A (p.Glu623=) rs2510660492
NM_000263.4(NAGLU):c.1874_1883del (p.Ala625fs)
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr) rs2510660514
NM_000263.4(NAGLU):c.1881A>G (p.Ala627=) rs2143114281
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe) rs764322586
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.1896G>A (p.Glu632=) rs2143114448
NM_000263.4(NAGLU):c.18G>A (p.Val6=) rs1599253491
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr) rs1449616485
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu) rs2510660618
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala) rs2510650088
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu) rs1449526218
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys) rs2143114630
NM_000263.4(NAGLU):c.1914C>G (p.Tyr638Ter)
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys) rs555145190
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln) rs555145190
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter) rs753670246
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr) rs2510660677
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys) rs1385391783
NM_000263.4(NAGLU):c.1929C>A (p.Arg643=) rs2510660694
NM_000263.4(NAGLU):c.192C>T (p.Thr64=) rs2510650096
NM_000263.4(NAGLU):c.192del (p.Tyr65fs) rs2092906340
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp) rs2143114887
NM_000263.4(NAGLU):c.1933C>T (p.Gln645Ter)
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=) rs1599262114
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His) rs2143076321
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile) rs1233556369
NM_000263.4(NAGLU):c.1942T>C (p.Leu648=) rs2510660717
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser) rs527236038
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.1965C>A (p.Ile655=) rs1482682282
NM_000263.4(NAGLU):c.1966C>T (p.Leu656=) rs2510660793
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro) rs2092930000
NM_000263.4(NAGLU):c.1977C>T (p.Ala659=) rs2510660815
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn) rs540899316
NM_000263.4(NAGLU):c.1987C>T (p.Leu663=) rs1188518770
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=) rs1349207240
NM_000263.4(NAGLU):c.1A>G (p.Met1Val) rs1325661354
NM_000263.4(NAGLU):c.1A>T (p.Met1Leu)
NM_000263.4(NAGLU):c.2001G>A (p.Val667=) rs1243919172
NM_000263.4(NAGLU):c.2004C>A (p.Ala668=) rs1306672947
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg) rs1486608317
NM_000263.4(NAGLU):c.2010C>T (p.Tyr670=) rs2092930191
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile) rs1358789110
NM_000263.4(NAGLU):c.201G>A (p.Leu67=) rs2143076387
NM_000263.4(NAGLU):c.2020C>A (p.Arg674Ser)
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu) rs104894590
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.202G>A (p.Gly68Ser) rs2506760089
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla) rs1469781984
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu) rs2143115795
NM_000263.4(NAGLU):c.2035C>T (p.Leu679=)
NM_000263.4(NAGLU):c.2038G>T (p.Glu680Ter)
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly) rs540744217
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=) rs1567894363
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) rs2092930339
NM_000263.4(NAGLU):c.2046G>A (p.Leu682=) rs2510660938
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg) rs2143115890
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr) rs2092930357
NM_000263.4(NAGLU):c.2061C>T (p.Ala687=) rs2510660959
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.2066del (p.Gly689fs) rs2510660968
NM_000263.4(NAGLU):c.2067C>T (p.Gly689=) rs2510660970
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe) rs143906118
NM_000263.4(NAGLU):c.2070C>T (p.Ile690=) rs2510660973
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu) rs2092930476
NM_000263.4(NAGLU):c.2076C>T (p.Phe692=) rs2092930476
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln) rs1038367205
NM_000263.4(NAGLU):c.2085C>T (p.His695=) rs1038367205
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn) rs897126193
NM_000263.4(NAGLU):c.2099del (p.Asn700fs) rs1383530983
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) rs1555621404
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.2121C>G (p.Ala707=)
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu) rs139195906
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly) rs1482294617
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs) rs2510661067
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His) rs2510661069
NM_000263.4(NAGLU):c.213C>T (p.Gly71=) rs2510650182
NM_000263.4(NAGLU):c.2140A>G (p.Arg714Gly)
NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=) rs1464733404
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro) rs2143076526
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup) rs1567890245
NM_000263.4(NAGLU):c.2154G>A (p.Gln718=) rs749377249
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.217_221dup (p.Val75fs) rs1555621442
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.219G>A (p.Ala73=) rs2092906518
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000263.4(NAGLU):c.21C>G (p.Ala7=) rs2092905698
NM_000263.4(NAGLU):c.21C>T (p.Ala7=) rs2092905698
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) rs1310530729
NM_000263.4(NAGLU):c.2205C>T (p.Tyr735=) rs1310530729
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.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=) rs1255253133
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr) rs750668298
NM_000263.4(NAGLU):c.222C>G (p.Arg74=) rs2143076606
NM_000263.4(NAGLU):c.222_223del (p.Val75fs) rs2143076561
NM_000263.4(NAGLU):c.222_247del (p.Val75fs) rs1201516783
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.223G>A (p.Val75Met) rs1460838744
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu) rs1460838744
NM_000263.4(NAGLU):c.225G>T (p.Val75=) rs2092906556
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly) rs1599253805
NM_000263.4(NAGLU):c.234C>T (p.Arg78=) rs2510650283
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys) rs1276484671
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp) rs2510650296
NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs) rs2510650286
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe) rs2092906616
NM_000263.4(NAGLU):c.243G>T (p.Thr81=) rs2510650315
NM_000263.4(NAGLU):c.249G>A (p.Val83=) rs1294936427
NM_000263.4(NAGLU):c.24G>T (p.Ala8=) rs2143075127
NM_000263.4(NAGLU):c.252G>A (p.Ala84=) rs2510650351
NM_000263.4(NAGLU):c.252_265del (p.Ala86fs) rs2143076795
NM_000263.4(NAGLU):c.258C>G (p.Ala86=) rs1381587394
NM_000263.4(NAGLU):c.261G>T (p.Ala87=) rs1452325580
NM_000263.4(NAGLU):c.265C>T (p.Leu89=) rs2143076945
NM_000263.4(NAGLU):c.267G>A (p.Leu89=) rs2143076955
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly) rs1176961335
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val) rs1176961335
NM_000263.4(NAGLU):c.273C>T (p.Arg91=) rs2143076997
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met) rs1285791183
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro) rs2510650448
NM_000263.4(NAGLU):c.27G>A (p.Ala9=)
NM_000263.4(NAGLU):c.27G>T (p.Ala9=) rs1002286212
NM_000263.4(NAGLU):c.282C>G (p.Arg94=) rs866267579
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu) rs1248922504
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.295_298del (p.Cys99fs)
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr) rs2510650485
NM_000263.4(NAGLU):c.306C>G (p.Ala102=) rs2092906862
NM_000263.4(NAGLU):c.306C>T (p.Ala102=) rs2092906862
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.30G>T (p.Val10=) rs1244442641
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr) rs2143077245
NM_000263.4(NAGLU):c.312C>T (p.Ser104=) rs2510650500
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser) rs1181544224
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala) rs2510650506
NM_000263.4(NAGLU):c.315C>G (p.Gly105=) rs2143077290
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe) rs2092906880
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs) rs2143077277
NM_000263.4(NAGLU):c.318T>G (p.Ser106=) rs2510650520
NM_000263.4(NAGLU):c.320dup (p.Leu108fs)
NM_000263.4(NAGLU):c.321G>A (p.Gln107=) rs779437712
NM_000263.4(NAGLU):c.322C>T (p.Leu108=) rs1487167711
NM_000263.4(NAGLU):c.326G>A (p.Arg109His) rs1224387286
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu) rs1224387286
NM_000263.4(NAGLU):c.327C>A (p.Arg109=) rs2143077380
NM_000263.4(NAGLU):c.327C>T (p.Arg109=) rs2143077380
NM_000263.4(NAGLU):c.329dup (p.Pro111fs) rs2510650554
NM_000263.4(NAGLU):c.32G>C (p.Gly11Ala) rs1217361905
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu) rs1567890347
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del) rs2510650548
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.345_347del (p.Ala116del)
NM_000263.4(NAGLU):c.348C>A (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.348C>G (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu) rs1009074785
NM_000263.4(NAGLU):c.34dup (p.Val12fs) rs2510649581
NM_000263.4(NAGLU):c.351G>A (p.Val117=) rs1436378685
NM_000263.4(NAGLU):c.354G>A (p.Pro118=) rs745433070
NM_000263.4(NAGLU):c.354G>C (p.Pro118=) rs745433070
NM_000263.4(NAGLU):c.354G>T (p.Pro118=) rs745433070
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly) rs2092907090
NM_000263.4(NAGLU):c.366C>A (p.Thr122=) rs769313280
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) rs796052123
NM_000263.4(NAGLU):c.372C>T (p.Ala124=)
NM_000263.4(NAGLU):c.379A>C (p.Asn127His) rs2143077833
NM_000263.4(NAGLU):c.37_40dup (p.Leu14fs)
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser) rs2092907145
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 rs2510650677
NM_000263.4(NAGLU):c.383+11G>A rs2143078004
NM_000263.4(NAGLU):c.383+13A>G rs2510650687
NM_000263.4(NAGLU):c.383+14G>A rs760963866
NM_000263.4(NAGLU):c.383+15C>T rs2510650692
NM_000263.4(NAGLU):c.383+17T>A rs2510650701
NM_000263.4(NAGLU):c.383+17del rs2092907246
NM_000263.4(NAGLU):c.383+20C>A rs1168068741
NM_000263.4(NAGLU):c.383+5C>A rs762932040
NM_000263.4(NAGLU):c.383+5C>T rs762932040
NM_000263.4(NAGLU):c.383+6G>T rs1245100428
NM_000263.4(NAGLU):c.383+7C>G rs768602711
NM_000263.4(NAGLU):c.383+8C>G rs774221240
NM_000263.4(NAGLU):c.384-10C>T rs772996063
NM_000263.4(NAGLU):c.384-11A>G rs2510651980
NM_000263.4(NAGLU):c.384-12C>A rs570427849
NM_000263.4(NAGLU):c.384-12C>G
NM_000263.4(NAGLU):c.384-12C>T rs570427849
NM_000263.4(NAGLU):c.384-15T>A rs2092909390
NM_000263.4(NAGLU):c.384-18T>C rs2510651969
NM_000263.4(NAGLU):c.384-19C>T rs2092909360
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 rs763057510
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 rs2510651982
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter) rs1453761645
NM_000263.4(NAGLU):c.390C>G (p.Arg130=) rs2510652019
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys) rs762337946
NM_000263.4(NAGLU):c.39T>G (p.Leu13=) rs2510649635
NM_000263.4(NAGLU):c.3G>A (p.Met1Ile) rs2143074939
NM_000263.4(NAGLU):c.402T>C (p.Asn134=) rs2510652034
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter) rs750741772
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile) rs2510649638
NM_000263.4(NAGLU):c.410_413del (p.Thr137fs) rs1460796923
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His) rs2092909557
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser) rs753520553
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=) rs758301017
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro) rs1489785243
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu) rs1489785243
NM_000263.4(NAGLU):c.446del (p.Arg149fs) rs2510652165
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter) rs2510652171
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp) rs1042897382
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.459G>A (p.Glu153=) rs746876753
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp) rs746876753
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.465C>T (p.Asp155=) rs2510652195
NM_000263.4(NAGLU):c.474G>A (p.Ala158=) rs1052714676
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) rs2510652210
NM_000263.4(NAGLU):c.483C>T (p.Gly161=) rs2510652212
NM_000263.4(NAGLU):c.489C>T (p.Asn163=) rs2143082353
NM_000263.4(NAGLU):c.490C>T (p.Leu164=) rs2092909948
NM_000263.4(NAGLU):c.490del (p.Leu164fs) rs2510652219
NM_000263.4(NAGLU):c.496C>T (p.Leu166=) rs2510652230
NM_000263.4(NAGLU):c.498G>T (p.Leu166=) rs1179039392
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) rs2092905845
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) rs1555621397
NM_000263.4(NAGLU):c.501C>T (p.Ala167=)
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=) rs1378009555
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.512dup (p.Glu172fs)
NM_000263.4(NAGLU):c.516G>A (p.Glu172=) rs2510652253
NM_000263.4(NAGLU):c.519C>T (p.Ala173=) rs2510652256
NM_000263.4(NAGLU):c.51G>A (p.Gly17=) rs2143075377
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter) rs2143082538
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys) rs2510652265
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg) rs1245652816
NM_000263.4(NAGLU):c.531+10C>G rs373999016
NM_000263.4(NAGLU):c.531+15T>C rs2510652294
NM_000263.4(NAGLU):c.531+1G>A rs1245939928
NM_000263.4(NAGLU):c.531+1G>C
NM_000263.4(NAGLU):c.531+8C>T rs2510652290
NM_000263.4(NAGLU):c.531+9C>G rs2143082621
NM_000263.4(NAGLU):c.532-11T>C rs977518446
NM_000263.4(NAGLU):c.532-14C>T rs2092912397
NM_000263.4(NAGLU):c.532-19G>T rs2092912385
NM_000263.4(NAGLU):c.532-1G>A rs2143086378
NM_000263.4(NAGLU):c.532-1G>C rs2143086378
NM_000263.4(NAGLU):c.532-9C>T
NM_000263.4(NAGLU):c.537C>T (p.Tyr179=) rs773878482
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser) rs2510653154
NM_000263.4(NAGLU):c.543C>G (p.Ala181=) rs2143086433
NM_000263.4(NAGLU):c.543C>T (p.Ala181=) rs2143086433
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe) rs2510653158
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg) rs1056643237
NM_000263.4(NAGLU):c.549C>G (p.Gly183=) rs2510653169
NM_000263.4(NAGLU):c.549C>T (p.Gly183=) rs2510653169
NM_000263.4(NAGLU):c.54C>A (p.Ala18=) rs1276497226
NM_000263.4(NAGLU):c.54C>G (p.Ala18=) rs1276497226
NM_000263.4(NAGLU):c.54C>T (p.Ala18=) rs1276497226
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs) rs2143075344
NM_000263.4(NAGLU):c.555C>G (p.Thr185=) rs918115221
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu) rs2510649717
NM_000263.4(NAGLU):c.576C>T (p.Phe192=) rs765009822
NM_000263.4(NAGLU):c.57G>A (p.Gly19=) rs2143075427
NM_000263.4(NAGLU):c.588T>G (p.Pro196=) rs1361122249
NM_000263.4(NAGLU):c.594C>T (p.Phe198=) rs1302694247
NM_000263.4(NAGLU):c.595del (p.Leu199fs) rs2510653230
NM_000263.4(NAGLU):c.59dup (p.Ala21fs) rs1253870232
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter) rs2143086665
NM_000263.4(NAGLU):c.607C>A (p.Arg203=) rs1279412522
NM_000263.4(NAGLU):c.60C>G (p.Gly20=)
NM_000263.4(NAGLU):c.60C>T (p.Gly20=) rs1421818277
NM_000263.4(NAGLU):c.610A>G (p.Met204Val) rs2143086735
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala) rs2510653253
NM_000263.4(NAGLU):c.615C>T (p.Gly205=) rs2510653257
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) rs1052395549
NM_000263.4(NAGLU):c.619C>T (p.Leu207=) rs1052395549
NM_000263.4(NAGLU):c.621G>A (p.Leu207=) rs2510653269
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.638C>T (p.Pro213Leu) rs2510653298
NM_000263.4(NAGLU):c.640dup (p.Leu214fs) rs2143086910
NM_000263.4(NAGLU):c.641del (p.Leu214fs) rs2510653303
NM_000263.4(NAGLU):c.642G>A (p.Leu214=) rs1555621747
NM_000263.4(NAGLU):c.642dup (p.Pro215fs) rs2092912932
NM_000263.4(NAGLU):c.647C>A (p.Pro216His) rs750276054
NM_000263.4(NAGLU):c.648C>A (p.Pro216=) rs755855749
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) rs1262407073
NM_000263.4(NAGLU):c.657C>T (p.His219=) rs779235263
NM_000263.4(NAGLU):c.660C>A (p.Ile220=) rs2510653361
NM_000263.4(NAGLU):c.663G>A (p.Lys221=) rs2510653373
NM_000263.4(NAGLU):c.672C>T (p.Tyr224=) rs2510653387
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter) rs2510653397
NM_000263.4(NAGLU):c.678+10T>C rs2510653413
NM_000263.4(NAGLU):c.678+17G>A rs2092913116
NM_000263.4(NAGLU):c.678+7G>C rs2510653406
NM_000263.4(NAGLU):c.678+8G>A rs2143087168
NM_000263.4(NAGLU):c.678+8G>C
NM_000263.4(NAGLU):c.678+8del rs2510653409
NM_000263.4(NAGLU):c.679-11T>G rs2510653773
NM_000263.4(NAGLU):c.679-15_679-12del rs1599256272
NM_000263.4(NAGLU):c.679-16C>G rs2092913649
NM_000263.4(NAGLU):c.679-16C>T rs2092913649
NM_000263.4(NAGLU):c.679-19C>G rs758493355
NM_000263.4(NAGLU):c.679-19C>T rs758493355
NM_000263.4(NAGLU):c.679-20C>T rs2092913631
NM_000263.4(NAGLU):c.679-5T>C rs2143087834
NM_000263.4(NAGLU):c.679-6C>T rs2143087825
NM_000263.4(NAGLU):c.679-7C>T rs2510653775
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro) rs146456266
NM_000263.4(NAGLU):c.684G>T (p.Arg228=)
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del) rs2143087937
NM_000263.4(NAGLU):c.69C>G (p.Gly23=) rs2092905938
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) rs2510653825
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer) rs2510653834
NM_000263.4(NAGLU):c.713del (p.Met238fs) rs2143088088
NM_000263.4(NAGLU):c.717C>T (p.Thr239=) rs2510653854
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser) rs2510653858
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs) rs2143075470
NM_000263.4(NAGLU):c.720A>C (p.Pro240=) rs892493572
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro) rs2510653875
NM_000263.4(NAGLU):c.732A>C (p.Ala244=) rs200729468
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu) rs2510653895
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs) rs2510653897
NM_000263.4(NAGLU):c.738G>C (p.Ala246=) rs773222814
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys) rs1358822473
NM_000263.4(NAGLU):c.741G>A (p.Gly247=)
NM_000263.4(NAGLU):c.741del (p.His248fs) rs2510653907
NM_000263.4(NAGLU):c.744T>C (p.His248=) rs2092913999
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile) rs2092914005
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly) rs2510649767
NM_000263.4(NAGLU):c.750C>G (p.Pro250=) rs539019626
NM_000263.4(NAGLU):c.755C>T (p.Ala252Val)
NM_000263.4(NAGLU):c.756T>G (p.Ala252=) rs752423543
NM_000263.4(NAGLU):c.759C>T (p.Val253=) rs2510653954
NM_000263.4(NAGLU):c.762C>A (p.Thr254=) rs1231353495
NM_000263.4(NAGLU):c.762C>T (p.Thr254=) rs1231353495
NM_000263.4(NAGLU):c.763A>C (p.Arg255=) rs2510653962
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp) rs2510653962
NM_000263.4(NAGLU):c.764+10C>G rs372400832
NM_000263.4(NAGLU):c.764+10del
NM_000263.4(NAGLU):c.764+14C>T rs2510653990
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 rs2510654007
NM_000263.4(NAGLU):c.764+20del rs753375289
NM_000263.4(NAGLU):c.764+7T>G
NM_000263.4(NAGLU):c.764+8T>C rs2143088553
NM_000263.4(NAGLU):c.764+9C>T rs2510653984
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr) rs2143088503
NM_000263.4(NAGLU):c.765-12G>C rs1374716301
NM_000263.4(NAGLU):c.765-14T>C rs2510656190
NM_000263.4(NAGLU):c.765-16T>C rs1006672054
NM_000263.4(NAGLU):c.765-17C>T rs2092919880
NM_000263.4(NAGLU):c.765-4C>T rs755356822
NM_000263.4(NAGLU):c.765-5A>G rs556600437
NM_000263.4(NAGLU):c.765-5A>T rs556600437
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) rs1160168612
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp) rs988433554
NM_000263.4(NAGLU):c.77C>T (p.Ala26Val) rs988433554
NM_000263.4(NAGLU):c.780C>T (p.Val260=) rs1411789843
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.78C>G (p.Ala26=) rs2092905964
NM_000263.4(NAGLU):c.792G>A (p.Lys264=) rs2092920064
NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser) rs968875282
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.80_82dup (p.Arg27_Glu28insGly) rs1430122594
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr) rs2510656357
NM_000263.4(NAGLU):c.819T>C (p.Cys273=)
NM_000263.4(NAGLU):c.81G>T (p.Arg27=) rs1021204618
NM_000263.4(NAGLU):c.820del (p.Ser274fs) rs1452185692
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys) rs1025860195
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del) rs2092905949
NM_000263.4(NAGLU):c.82dup (p.Glu28fs) rs1430122594
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) rs775364669
NM_000263.4(NAGLU):c.843G>C (p.Leu281=) rs2143098501
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val) rs1438953428
NM_000263.4(NAGLU):c.855C>T (p.Asp285=) rs2510656426
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu) rs2510656429
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=) rs2510656447
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu) rs1209988199
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn) rs2510656461
NM_000263.4(NAGLU):c.882C>T (p.Leu294=) rs753128312
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys) rs2510656472
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met) rs1328217490
NM_000263.4(NAGLU):c.886C>T (p.Leu296=) rs1328217490
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.8C>T (p.Ala3Val) rs2092905628
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs) rs2092920511
NM_000263.4(NAGLU):c.90G>A (p.Ala30=) rs2143075591
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.92C>G (p.Ala31Gly) rs2092906004
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) rs1052471595
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala) rs2510656576
NM_000263.4(NAGLU):c.939T>A (p.Thr313=) rs2092920725
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) rs2510656598
NM_000263.4(NAGLU):c.94G>A (p.Val32Met)
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile) rs2510656601
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile) rs2510656601
NM_000263.4(NAGLU):c.953_957del (p.Gln318fs) rs2143099555
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu) rs2510656611
NM_000263.4(NAGLU):c.957A>T (p.Pro319=) rs2143099579
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe) rs2092920803
NM_000263.4(NAGLU):c.963C>A (p.Ser321=) rs760910696
NM_000263.4(NAGLU):c.966A>C (p.Ser322=) rs2510656621
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu) rs2510656635
NM_000263.4(NAGLU):c.975C>A (p.Ser325=) rs1172822987
NM_000263.4(NAGLU):c.978C>A (p.Tyr326Ter)
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe) rs776750536
NM_000263.4(NAGLU):c.987A>G (p.Ala329=) rs2143099825
NM_000263.4(NAGLU):c.993C>G (p.Thr331=) rs753183280
NM_000263.4(NAGLU):c.996T>C (p.Thr332=) rs764483473
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs) rs2510656745
NM_000263.4(NAGLU):c.99G>A (p.Arg33=) rs2143075635
NM_000263.4(NAGLU):c.9G>A (p.Ala3=) rs1366797084
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806

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