ClinVar Miner

List of variants in gene NGLY1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 713
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018297.4(NGLY1):c.1260+7T>G rs6550987 0.81668
NM_018297.4(NGLY1):c.132-14T>C rs77109827 0.04444
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=) rs73155397 0.00539
NM_018297.4(NGLY1):c.1261-11A>G rs192062614 0.00177
NM_018297.4(NGLY1):c.1579A>G (p.Ile527Val) rs112237307 0.00160
NM_018297.4(NGLY1):c.1003+15A>C rs145665993 0.00152
NM_018297.4(NGLY1):c.1508G>A (p.Arg503His) rs139134926 0.00150
NM_018297.4(NGLY1):c.550G>T (p.Val184Phe) rs139636452 0.00150
NM_018297.4(NGLY1):c.1722A>G (p.Gln574=) rs74650888 0.00138
NM_018297.4(NGLY1):c.246+8T>A rs373747843 0.00116
NM_018297.4(NGLY1):c.881+8C>T rs143998271 0.00072
NM_018297.4(NGLY1):c.1608C>A (p.His536Gln) rs138108375 0.00066
NM_018297.4(NGLY1):c.636G>T (p.Ser212=) rs201479575 0.00053
NM_018297.4(NGLY1):c.334A>C (p.Arg112=) rs150281491 0.00046
NM_018297.4(NGLY1):c.493-8C>T rs1351697559 0.00043
NM_018297.4(NGLY1):c.1560C>T (p.Gly520=) rs138477428 0.00036
NM_018297.4(NGLY1):c.123C>T (p.Asn41=) rs142425326 0.00035
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_018297.4(NGLY1):c.390C>G (p.Ala130=) rs140924312 0.00025
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser) rs370175393 0.00024
NM_018297.4(NGLY1):c.1612-15C>A rs371364572 0.00022
NM_018297.4(NGLY1):c.492+6G>A rs200608265 0.00022
NM_018297.4(NGLY1):c.1232G>A (p.Arg411Gln) rs142766875 0.00021
NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys) rs201442228 0.00020
NM_018297.4(NGLY1):c.1363C>T (p.Leu455Phe) rs375966958 0.00015
NM_018297.4(NGLY1):c.663C>T (p.Ile221=) rs373934325 0.00014
NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu) rs144144643 0.00013
NM_018297.4(NGLY1):c.1355C>G (p.Pro452Arg) rs187892679 0.00013
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) rs748862974 0.00013
NM_018297.4(NGLY1):c.414A>G (p.Pro138=) rs145234847 0.00011
NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val) rs761035118 0.00010
NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp) rs754083716 0.00010
NM_018297.4(NGLY1):c.492+4A>T rs181461044 0.00008
NM_018297.4(NGLY1):c.609A>G (p.Leu203=) rs146227168 0.00008
NM_018297.4(NGLY1):c.1804T>C (p.Ser602Pro) rs112709918 0.00007
NM_018297.4(NGLY1):c.53C>T (p.Ala18Val) rs776883349 0.00007
NM_018297.4(NGLY1):c.1268T>A (p.Leu423Gln) rs369598638 0.00006
NM_018297.4(NGLY1):c.1366G>C (p.Gly456Arg) rs746748010 0.00006
NM_018297.4(NGLY1):c.1447C>A (p.Pro483Thr) rs766828621 0.00006
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) rs144262689 0.00006
NM_018297.4(NGLY1):c.1611+17A>C rs370336045 0.00006
NM_018297.4(NGLY1):c.1649A>G (p.Tyr550Cys) rs373792768 0.00006
NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly) rs200463539 0.00006
NM_018297.4(NGLY1):c.247-13T>G rs201976588 0.00006
NM_018297.4(NGLY1):c.404C>T (p.Pro135Leu) rs983411072 0.00006
NM_018297.4(NGLY1):c.818G>C (p.Trp273Ser) rs202027326 0.00006
NM_018297.4(NGLY1):c.841C>T (p.His281Tyr) rs200446388 0.00006
NM_018297.4(NGLY1):c.882-18T>C rs550320343 0.00006
NM_018297.4(NGLY1):c.1235A>T (p.Asp412Val) rs778513258 0.00005
NM_018297.4(NGLY1):c.1260+4T>C rs377612106 0.00005
NM_018297.4(NGLY1):c.247-3C>A rs201806398 0.00005
NM_018297.4(NGLY1):c.582G>A (p.Ala194=) rs373961978 0.00005
NM_018297.4(NGLY1):c.667A>G (p.Ile223Val) rs201904265 0.00005
NM_018297.4(NGLY1):c.1050G>A (p.Leu350=) rs140277729 0.00004
NM_018297.4(NGLY1):c.1185T>C (p.His395=) rs370848304 0.00004
NM_018297.4(NGLY1):c.1249C>T (p.Leu417Phe) rs777927774 0.00004
NM_018297.4(NGLY1):c.1304A>G (p.Gln435Arg) rs372323207 0.00004
NM_018297.4(NGLY1):c.132-8T>C rs750383442 0.00004
NM_018297.4(NGLY1):c.1426-13C>T rs767706125 0.00004
NM_018297.4(NGLY1):c.1517G>A (p.Arg506Gln) rs146208989 0.00004
NM_018297.4(NGLY1):c.1808A>G (p.Tyr603Cys) rs777069327 0.00004
NM_018297.4(NGLY1):c.1889C>A (p.Thr630Asn) rs891240035 0.00004
NM_018297.4(NGLY1):c.246+15G>A rs186233424 0.00004
NM_018297.4(NGLY1):c.286G>A (p.Glu96Lys) rs777476251 0.00004
NM_018297.4(NGLY1):c.468A>G (p.Ser156=) rs776423647 0.00004
NM_018297.4(NGLY1):c.492+7T>C rs781577774 0.00004
NM_018297.4(NGLY1):c.508G>A (p.Ala170Thr) rs1261759648 0.00004
NM_018297.4(NGLY1):c.642T>C (p.Ala214=) rs781344542 0.00004
NM_018297.4(NGLY1):c.658+20A>T rs765443929 0.00004
NM_018297.4(NGLY1):c.741C>T (p.Asn247=) rs368580768 0.00004
NM_018297.4(NGLY1):c.829G>C (p.Glu277Gln) rs948858807 0.00004
NM_018297.4(NGLY1):c.968T>C (p.Val323Ala) rs200601419 0.00004
NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe) rs1056459017 0.00003
NM_018297.4(NGLY1):c.1260+14A>G rs763046926 0.00003
NM_018297.4(NGLY1):c.131+11A>G rs377289212 0.00003
NM_018297.4(NGLY1):c.132-15T>G rs780031584 0.00003
NM_018297.4(NGLY1):c.1398A>T (p.Arg466Ser) rs1176823602 0.00003
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter) rs768131676 0.00003
NM_018297.4(NGLY1):c.1507C>T (p.Arg503Cys) rs745718089 0.00003
NM_018297.4(NGLY1):c.1771C>G (p.Gln591Glu) rs765145201 0.00003
NM_018297.4(NGLY1):c.1789+8T>C rs759588336 0.00003
NM_018297.4(NGLY1):c.1790-7C>G rs778776817 0.00003
NM_018297.4(NGLY1):c.1796G>A (p.Ser599Asn) rs903771343 0.00003
NM_018297.4(NGLY1):c.25T>A (p.Ser9Thr) rs748917973 0.00003
NM_018297.4(NGLY1):c.455G>A (p.Arg152His) rs762498007 0.00003
NM_018297.4(NGLY1):c.461G>A (p.Gly154Glu) rs375945206 0.00003
NM_018297.4(NGLY1):c.554A>G (p.Tyr185Cys) rs1185701065 0.00003
NM_018297.4(NGLY1):c.597G>A (p.Pro199=) rs369840629 0.00003
NM_018297.4(NGLY1):c.661A>G (p.Ile221Val) rs369388667 0.00003
NM_018297.4(NGLY1):c.8C>T (p.Ala3Val) rs746390289 0.00003
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371 0.00002
NM_018297.4(NGLY1):c.1042C>T (p.Arg348Trp) rs752318754 0.00002
NM_018297.4(NGLY1):c.1043G>A (p.Arg348Gln) rs1559535370 0.00002
NM_018297.4(NGLY1):c.1240A>G (p.Ile414Val) rs371004438 0.00002
NM_018297.4(NGLY1):c.1342A>C (p.Lys448Gln) rs770653213 0.00002
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=) rs760580010 0.00002
NM_018297.4(NGLY1):c.1781T>C (p.Leu594Pro) rs760957238 0.00002
NM_018297.4(NGLY1):c.1790-12T>C rs759806105 0.00002
NM_018297.4(NGLY1):c.1790-18T>A rs532188961 0.00002
NM_018297.4(NGLY1):c.1858A>G (p.Arg620Gly) rs746694378 0.00002
NM_018297.4(NGLY1):c.38C>T (p.Ala13Val) rs752321437 0.00002
NM_018297.4(NGLY1):c.452A>G (p.Asn151Ser) rs969104465 0.00002
NM_018297.4(NGLY1):c.460G>A (p.Gly154Arg) rs773019915 0.00002
NM_018297.4(NGLY1):c.465G>A (p.Gln155=) rs537713428 0.00002
NM_018297.4(NGLY1):c.491C>T (p.Thr164Met) rs749441809 0.00002
NM_018297.4(NGLY1):c.591T>C (p.Cys197=) rs371185733 0.00002
NM_018297.4(NGLY1):c.857_873del (p.Cys286fs) rs1375323331 0.00002
NM_018297.4(NGLY1):c.872G>A (p.Arg291Gln) rs769627493 0.00002
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr) rs763397227 0.00002
NM_018297.4(NGLY1):c.922C>T (p.Arg308Trp) rs768017869 0.00002
NM_018297.4(NGLY1):c.959G>C (p.Cys320Ser) rs1332390500 0.00002
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) rs761634625 0.00002
NM_018297.4(NGLY1):c.1004-5A>G rs775894052 0.00001
NM_018297.4(NGLY1):c.104T>A (p.Leu35Gln) rs769627540 0.00001
NM_018297.4(NGLY1):c.1063T>C (p.Cys355Arg) rs762908677 0.00001
NM_018297.4(NGLY1):c.1150-1G>C rs532007026 0.00001
NM_018297.4(NGLY1):c.1150-6T>C rs1291823983 0.00001
NM_018297.4(NGLY1):c.1161C>A (p.Val387=) rs1705687980 0.00001
NM_018297.4(NGLY1):c.1164T>C (p.Thr388=) rs373641035 0.00001
NM_018297.4(NGLY1):c.11C>T (p.Ala4Val) rs1169138947 0.00001
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) rs146140738 0.00001
NM_018297.4(NGLY1):c.1257G>A (p.Lys419=) rs1575616373 0.00001
NM_018297.4(NGLY1):c.1261-3C>T rs1368590319 0.00001
NM_018297.4(NGLY1):c.126C>T (p.Ile42=) rs565048300 0.00001
NM_018297.4(NGLY1):c.1305G>A (p.Gln435=) rs767739104 0.00001
NM_018297.4(NGLY1):c.131+12C>T rs368524040 0.00001
NM_018297.4(NGLY1):c.1353A>G (p.Lys451=) rs748956391 0.00001
NM_018297.4(NGLY1):c.1383G>A (p.Gly461=) rs938966609 0.00001
NM_018297.4(NGLY1):c.1409G>A (p.Gly470Asp) rs759978728 0.00001
NM_018297.4(NGLY1):c.1415T>C (p.Met472Thr) rs1553652803 0.00001
NM_018297.4(NGLY1):c.1425+20A>G rs773050159 0.00001
NM_018297.4(NGLY1):c.1426-20A>G rs752766144 0.00001
NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile) rs564037973 0.00001
NM_018297.4(NGLY1):c.1437C>T (p.Thr479=) rs752135335 0.00001
NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser) rs544148699 0.00001
NM_018297.4(NGLY1):c.1525A>G (p.Asn509Asp) rs1337509224 0.00001
NM_018297.4(NGLY1):c.1538C>G (p.Thr513Ser) rs1449409944 0.00001
NM_018297.4(NGLY1):c.154A>C (p.Arg52=) rs767764236 0.00001
NM_018297.4(NGLY1):c.159C>T (p.Ser53=) rs759653343 0.00001
NM_018297.4(NGLY1):c.1612-3T>C rs755773365 0.00001
NM_018297.4(NGLY1):c.1612-4A>G rs376954734 0.00001
NM_018297.4(NGLY1):c.1614A>G (p.Val538=) rs1485372453 0.00001
NM_018297.4(NGLY1):c.1622C>T (p.Ala541Val) rs752138969 0.00001
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter) rs528583612 0.00001
NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu) rs1040190748 0.00001
NM_018297.4(NGLY1):c.164G>A (p.Arg55Gln) rs964624944 0.00001
NM_018297.4(NGLY1):c.1697G>A (p.Ser566Asn) rs150599828 0.00001
NM_018297.4(NGLY1):c.16T>C (p.Leu6=) rs1481308931 0.00001
NM_018297.4(NGLY1):c.1714A>G (p.Ser572Gly) rs757626321 0.00001
NM_018297.4(NGLY1):c.1740A>G (p.Thr580=) rs554503189 0.00001
NM_018297.4(NGLY1):c.1743A>G (p.Val581=) rs766286658 0.00001
NM_018297.4(NGLY1):c.1788C>T (p.Gly596=) rs775894258 0.00001
NM_018297.4(NGLY1):c.1789+14T>G rs774500712 0.00001
NM_018297.4(NGLY1):c.1799T>C (p.Leu600Pro) rs770140676 0.00001
NM_018297.4(NGLY1):c.182T>G (p.Phe61Cys) rs1405545152 0.00001
NM_018297.4(NGLY1):c.1876G>A (p.Ala626Thr) rs757269967 0.00001
NM_018297.4(NGLY1):c.1901G>C (p.Arg634Thr) rs148625951 0.00001
NM_018297.4(NGLY1):c.1933T>C (p.Leu645=) rs1704866696 0.00001
NM_018297.4(NGLY1):c.1945A>T (p.Ile649Leu) rs746609579 0.00001
NM_018297.4(NGLY1):c.1954A>G (p.Ser652Gly) rs1205548216 0.00001
NM_018297.4(NGLY1):c.198G>A (p.Leu66=) rs768484670 0.00001
NM_018297.4(NGLY1):c.1A>G (p.Met1Val) rs772627507 0.00001
NM_018297.4(NGLY1):c.200C>T (p.Pro67Leu) rs145752045 0.00001
NM_018297.4(NGLY1):c.246+17A>T rs1395079531 0.00001
NM_018297.4(NGLY1):c.247-18T>A rs185704729 0.00001
NM_018297.4(NGLY1):c.259C>G (p.Leu87Val) rs765056703 0.00001
NM_018297.4(NGLY1):c.27C>G (p.Ser9=) rs777336195 0.00001
NM_018297.4(NGLY1):c.304C>T (p.Arg102Cys) rs375732599 0.00001
NM_018297.4(NGLY1):c.305G>A (p.Arg102His) rs750589736 0.00001
NM_018297.4(NGLY1):c.344G>C (p.Gly115Ala) rs571852877 0.00001
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn) rs752256415 0.00001
NM_018297.4(NGLY1):c.384T>G (p.Pro128=) rs944211173 0.00001
NM_018297.4(NGLY1):c.405T>C (p.Pro135=) rs565015455 0.00001
NM_018297.4(NGLY1):c.411A>G (p.Thr137=) rs772280206 0.00001
NM_018297.4(NGLY1):c.413C>G (p.Pro138Arg) rs746095871 0.00001
NM_018297.4(NGLY1):c.44C>G (p.Pro15Arg) rs754904758 0.00001
NM_018297.4(NGLY1):c.464A>G (p.Gln155Arg) rs1385762448 0.00001
NM_018297.4(NGLY1):c.480A>G (p.Pro160=) rs1030850752 0.00001
NM_018297.4(NGLY1):c.48C>T (p.Ala16=) rs751579974 0.00001
NM_018297.4(NGLY1):c.493-19T>G rs1706736959 0.00001
NM_018297.4(NGLY1):c.493-4T>G rs1706735265 0.00001
NM_018297.4(NGLY1):c.493-9T>C rs763962126 0.00001
NM_018297.4(NGLY1):c.519A>G (p.Glu173=) rs1197877731 0.00001
NM_018297.4(NGLY1):c.521T>G (p.Val174Gly) rs1306695269 0.00001
NM_018297.4(NGLY1):c.52G>T (p.Ala18Ser) rs762706285 0.00001
NM_018297.4(NGLY1):c.530C>T (p.Ser177Phe) rs1706732934 0.00001
NM_018297.4(NGLY1):c.535A>G (p.Ile179Val) rs1329006958 0.00001
NM_018297.4(NGLY1):c.538C>G (p.Gln180Glu) rs749482225 0.00001
NM_018297.4(NGLY1):c.544G>A (p.Val182Met) rs981738620 0.00001
NM_018297.4(NGLY1):c.57G>A (p.Glu19=) rs146946624 0.00001
NM_018297.4(NGLY1):c.581C>T (p.Ala194Val) rs750077439 0.00001
NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu) rs760530009 0.00001
NM_018297.4(NGLY1):c.603A>G (p.Gln201=) rs1444650804 0.00001
NM_018297.4(NGLY1):c.626A>G (p.Glu209Gly) rs1706725084 0.00001
NM_018297.4(NGLY1):c.646A>G (p.Lys216Glu) rs148972130 0.00001
NM_018297.4(NGLY1):c.648A>G (p.Lys216=) rs563065066 0.00001
NM_018297.4(NGLY1):c.658+1G>A rs756045177 0.00001
NM_018297.4(NGLY1):c.728A>C (p.His243Pro) rs1553654596 0.00001
NM_018297.4(NGLY1):c.729C>G (p.His243Gln) rs371573253 0.00001
NM_018297.4(NGLY1):c.736A>T (p.Asn246Tyr) rs760786749 0.00001
NM_018297.4(NGLY1):c.750C>T (p.Cys250=) rs774509442 0.00001
NM_018297.4(NGLY1):c.773G>A (p.Arg258Lys) rs1252562045 0.00001
NM_018297.4(NGLY1):c.783T>C (p.Asp261=) rs147024365 0.00001
NM_018297.4(NGLY1):c.789A>G (p.Ser263=) rs1706026953 0.00001
NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile) rs147901411 0.00001
NM_018297.4(NGLY1):c.801T>C (p.Ser267=) rs199578758 0.00001
NM_018297.4(NGLY1):c.815A>C (p.Lys272Thr) rs1553654532 0.00001
NM_018297.4(NGLY1):c.823G>A (p.Ala275Thr) rs752711308 0.00001
NM_018297.4(NGLY1):c.826A>G (p.Lys276Glu) rs1300275073 0.00001
NM_018297.4(NGLY1):c.834G>A (p.Val278=) rs1437417087 0.00001
NM_018297.4(NGLY1):c.837A>G (p.Glu279=) rs920352938 0.00001
NM_018297.4(NGLY1):c.854C>G (p.Ala285Gly) rs1354557048 0.00001
NM_018297.4(NGLY1):c.885T>C (p.Tyr295=) rs377722046 0.00001
NM_018297.4(NGLY1):c.894T>A (p.Pro298=) rs1385420166 0.00001
NM_018297.4(NGLY1):c.897G>T (p.Glu299Asp) rs201068823 0.00001
NM_018297.4(NGLY1):c.904T>C (p.Leu302=) rs1157809772 0.00001
NM_018297.4(NGLY1):c.916T>C (p.Cys306Arg) rs376459511 0.00001
NM_018297.4(NGLY1):c.91G>A (p.Ala31Thr) rs771300867 0.00001
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294 0.00001
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209 0.00001
NM_018297.4(NGLY1):c.951A>G (p.Thr317=) rs1705887835 0.00001
NM_018297.4(NGLY1):c.954G>C (p.Leu318=) rs938879273 0.00001
NM_018297.4(NGLY1):c.960C>T (p.Cys320=) rs781518537 0.00001
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter) rs755009745 0.00001
NM_018297.4(NGLY1):c.962G>A (p.Arg321Gln) rs751720023 0.00001
NM_018297.4(NGLY1):c.972G>A (p.Gly324=) rs1057521904 0.00001
NM_018297.4(NGLY1):c.979G>A (p.Ala327Thr) rs765674070 0.00001
NM_018297.4(NGLY1):c.988G>A (p.Val330Ile) rs1291397698 0.00001
NC_000003.11:g.(?_25760931)_(25831376_?)del
NC_000003.11:g.(?_25805537)_(25805822_?)del
NC_000003.11:g.(?_25820045)_(25824881_?)dup
NC_000003.12:g.(?_25719440)_(25734002_?)del
NC_000003.12:g.(?_25751078)_(25751283_?)del
NC_000003.12:g.25719635_25719641del
NM_018297.4(NGLY1):c.-17_12dup (p.Ala5fs) rs765492483
NM_018297.4(NGLY1):c.-18GCCCGCTGGCGCTCAAGCATGGCGGCGGCGGC[3] (p.Leu6fs) rs762131179
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs) rs762131179
NM_018297.4(NGLY1):c.1003+13G>A
NM_018297.4(NGLY1):c.1003+13G>C
NM_018297.4(NGLY1):c.1003+17G>A
NM_018297.4(NGLY1):c.1003+20C>A rs963755537
NM_018297.4(NGLY1):c.1003+20C>T
NM_018297.4(NGLY1):c.1003+2T>C
NM_018297.4(NGLY1):c.1003+7A>G
NM_018297.4(NGLY1):c.1003+8A>C rs2125478759
NM_018297.4(NGLY1):c.1004-11T>C
NM_018297.4(NGLY1):c.1004-15C>T rs2125475882
NM_018297.4(NGLY1):c.1008T>C (p.His336=) rs772272234
NM_018297.4(NGLY1):c.1014G>C (p.Trp338Cys)
NM_018297.4(NGLY1):c.1026T>C (p.Tyr342=)
NM_018297.4(NGLY1):c.1030C>T (p.Pro344Ser) rs1705807075
NM_018297.4(NGLY1):c.1033_1035del (p.Ser345del) rs1705806467
NM_018297.4(NGLY1):c.1038G>A (p.Gln346=) rs2125475740
NM_018297.4(NGLY1):c.1044G>C (p.Arg348=)
NM_018297.4(NGLY1):c.1052A>G (p.His351Arg)
NM_018297.4(NGLY1):c.1062A>T (p.Ala354=)
NM_018297.4(NGLY1):c.1068A>G (p.Glu356=) rs1705803708
NM_018297.4(NGLY1):c.1074C>T (p.Val358=)
NM_018297.4(NGLY1):c.1084C>G (p.Pro362Ala) rs1705801576
NM_018297.4(NGLY1):c.1086A>G (p.Pro362=)
NM_018297.4(NGLY1):c.108C>T (p.Leu36=) rs2125331364
NM_018297.4(NGLY1):c.1107G>A (p.Trp369Ter)
NM_018297.4(NGLY1):c.1109dup (p.Lys371fs)
NM_018297.4(NGLY1):c.1110C>A (p.Gly370=)
NM_018297.4(NGLY1):c.1114A>G (p.Lys372Glu)
NM_018297.4(NGLY1):c.1120T>C (p.Ser374Pro) rs765144358
NM_018297.4(NGLY1):c.1122C>G (p.Ser374=) rs1705798915
NM_018297.4(NGLY1):c.1122C>T (p.Ser374=) rs1705798915
NM_018297.4(NGLY1):c.1131A>C (p.Ile377=)
NM_018297.4(NGLY1):c.1134A>G (p.Ala378=)
NM_018297.4(NGLY1):c.1135T>A (p.Phe379Ile) rs2125475415
NM_018297.4(NGLY1):c.1149+10A>T
NM_018297.4(NGLY1):c.1149+19A>T
NM_018297.4(NGLY1):c.1149+7C>G
NM_018297.4(NGLY1):c.1149+8A>G rs2125475375
NM_018297.4(NGLY1):c.1150-7G>A
NM_018297.4(NGLY1):c.1150-7_1150-4del rs1705688823
NM_018297.4(NGLY1):c.1150-8T>C
NM_018297.4(NGLY1):c.1161C>T (p.Val387=) rs1705687980
NM_018297.4(NGLY1):c.1167G>A (p.Trp389Ter)
NM_018297.4(NGLY1):c.1168C>A (p.Arg390=) rs751805500
NM_018297.4(NGLY1):c.1168C>T (p.Arg390Ter) rs751805500
NM_018297.4(NGLY1):c.1171T>C (p.Tyr391His) rs1705687090
NM_018297.4(NGLY1):c.1174T>G (p.Ser392Ala) rs766571083
NM_018297.4(NGLY1):c.1175C>T (p.Ser392Phe) rs1705686797
NM_018297.4(NGLY1):c.1176C>G (p.Ser392=)
NM_018297.4(NGLY1):c.1179C>T (p.Cys393=)
NM_018297.4(NGLY1):c.1188A>G (p.Glu396=)
NM_018297.4(NGLY1):c.1191G>A (p.Glu397=)
NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer)
NM_018297.4(NGLY1):c.1194G>C (p.Val398=)
NM_018297.4(NGLY1):c.1198G>A (p.Ala400Thr)
NM_018297.4(NGLY1):c.1203A>G (p.Arg401=)
NM_018297.4(NGLY1):c.120C>G (p.Asp40Glu) rs1708504699
NM_018297.4(NGLY1):c.1212G>A (p.Lys404=)
NM_018297.4(NGLY1):c.1218A>G (p.Lys406=)
NM_018297.4(NGLY1):c.1224A>G (p.Ala408=)
NM_018297.4(NGLY1):c.1227A>G (p.Leu409=)
NM_018297.4(NGLY1):c.122A>G (p.Asn41Ser)
NM_018297.4(NGLY1):c.1235A>G (p.Asp412Gly) rs778513258
NM_018297.4(NGLY1):c.1237A>G (p.Thr413Ala)
NM_018297.4(NGLY1):c.1238C>T (p.Thr413Ile) rs1261124515
NM_018297.4(NGLY1):c.1242del (p.Asn415fs) rs1575616394
NM_018297.4(NGLY1):c.1244A>T (p.Asn415Ile)
NM_018297.4(NGLY1):c.1248G>A (p.Gly416=)
NM_018297.4(NGLY1):c.1248G>C (p.Gly416=)
NM_018297.4(NGLY1):c.1250_1258dup (p.Leu417_Lys419dup) rs1705681776
NM_018297.4(NGLY1):c.1260+10G>A
NM_018297.4(NGLY1):c.1260+12C>G
NM_018297.4(NGLY1):c.1260+14_1260+17del rs778136830
NM_018297.4(NGLY1):c.1260+15T>C
NM_018297.4(NGLY1):c.1260+16C>G
NM_018297.4(NGLY1):c.1260+16C>T
NM_018297.4(NGLY1):c.1260+17T>C rs1559533894
NM_018297.4(NGLY1):c.1260+20T>C
NM_018297.4(NGLY1):c.1260+6_1260+7delinsCG rs1705680555
NM_018297.4(NGLY1):c.1260+7T>C rs6550987
NM_018297.4(NGLY1):c.1261-11A>C
NM_018297.4(NGLY1):c.1261-12C>T
NM_018297.4(NGLY1):c.1261-13A>C
NM_018297.4(NGLY1):c.1261-13dup
NM_018297.4(NGLY1):c.1261-15A>C
NM_018297.4(NGLY1):c.1261-15A>T
NM_018297.4(NGLY1):c.1261-19T>A
NM_018297.4(NGLY1):c.1261-19del
NM_018297.4(NGLY1):c.1261-19dup
NM_018297.4(NGLY1):c.1263G>A (p.Arg421=)
NM_018297.4(NGLY1):c.1263G>T (p.Arg421Ser) rs1575614950
NM_018297.4(NGLY1):c.1266A>G (p.Gln422=)
NM_018297.4(NGLY1):c.1272T>C (p.Phe424=) rs2125466297
NM_018297.4(NGLY1):c.127del (p.Leu43fs)
NM_018297.4(NGLY1):c.1293A>G (p.Lys431=)
NM_018297.4(NGLY1):c.12G>A (p.Ala4=) rs1462227827
NM_018297.4(NGLY1):c.12G>C (p.Ala4=)
NM_018297.4(NGLY1):c.1300C>T (p.Leu434Phe) rs761035118
NM_018297.4(NGLY1):c.1302C>T (p.Leu434=) rs1183019367
NM_018297.4(NGLY1):c.1303C>T (p.Gln435Ter)
NM_018297.4(NGLY1):c.1309A>G (p.Ile437Val) rs2125466194
NM_018297.4(NGLY1):c.131+10A>G rs2125331280
NM_018297.4(NGLY1):c.131+13G>C
NM_018297.4(NGLY1):c.131+15G>T
NM_018297.4(NGLY1):c.131+18C>G
NM_018297.4(NGLY1):c.131+8G>A
NM_018297.4(NGLY1):c.132-11T>C rs2125321905
NM_018297.4(NGLY1):c.132-19A>C
NM_018297.4(NGLY1):c.132-19A>G rs374594731
NM_018297.4(NGLY1):c.132-6dup
NM_018297.4(NGLY1):c.1345_1346delinsTA (p.Thr449Tyr) rs1705583019
NM_018297.4(NGLY1):c.1347C>T (p.Thr449=)
NM_018297.4(NGLY1):c.1354C>T (p.Pro452Ser) rs772810347
NM_018297.4(NGLY1):c.1364T>A (p.Leu455His) rs754714582
NM_018297.4(NGLY1):c.1370G>C (p.Gly457Ala) rs2125465989
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs) rs587777265
NM_018297.4(NGLY1):c.137C>A (p.Pro46His) rs920456609
NM_018297.4(NGLY1):c.1406G>A (p.Arg469Gln)
NM_018297.4(NGLY1):c.1414A>G (p.Met472Val) rs1705577127
NM_018297.4(NGLY1):c.1419T>G (p.Gly473=)
NM_018297.4(NGLY1):c.141T>C (p.Asn47=)
NM_018297.4(NGLY1):c.1422A>G (p.Leu474=)
NM_018297.4(NGLY1):c.1425+15C>T
NM_018297.4(NGLY1):c.1425+6del rs2125465821
NM_018297.4(NGLY1):c.1426-14G>A
NM_018297.4(NGLY1):c.1426-1G>A rs2125460077
NM_018297.4(NGLY1):c.1426-6T>C
NM_018297.4(NGLY1):c.1426-8T>G
NM_018297.4(NGLY1):c.1431_1435del (p.Lys477fs) rs750294252
NM_018297.4(NGLY1):c.1441T>G (p.Phe481Val) rs1020539053
NM_018297.4(NGLY1):c.1442_1452del (p.Leu480_Phe481insTer)
NM_018297.4(NGLY1):c.1448C>T (p.Pro483Leu) rs763452939
NM_018297.4(NGLY1):c.1449del (p.Cys484fs) rs2125459914
NM_018297.4(NGLY1):c.1463A>G (p.Lys488Arg) rs761374303
NM_018297.4(NGLY1):c.1470T>C (p.Ser490=)
NM_018297.4(NGLY1):c.1474C>T (p.Gln492Ter) rs2125459806
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) rs1575612023
NM_018297.4(NGLY1):c.1482C>T (p.His494=) rs1006571126
NM_018297.4(NGLY1):c.1483C>A (p.Leu495Ile)
NM_018297.4(NGLY1):c.1485T>C (p.Leu495=)
NM_018297.4(NGLY1):c.1488T>C (p.Cys496=)
NM_018297.4(NGLY1):c.1490A>G (p.Tyr497Cys) rs2125459762
NM_018297.4(NGLY1):c.1491C>A (p.Tyr497Ter)
NM_018297.4(NGLY1):c.1491C>T (p.Tyr497=)
NM_018297.4(NGLY1):c.149A>C (p.Lys50Thr)
NM_018297.4(NGLY1):c.14C>A (p.Ala5Glu) rs779267801
NM_018297.4(NGLY1):c.14_15insGCCCGCTGGCGCTCAAGCATGGCGGCGGCGGCGGC (p.Leu6fs)
NM_018297.4(NGLY1):c.1503A>G (p.Lys501=)
NM_018297.4(NGLY1):c.1507C>G (p.Arg503Gly) rs745718089
NM_018297.4(NGLY1):c.1512T>A (p.Tyr504Ter)
NM_018297.4(NGLY1):c.1512T>C (p.Tyr504=)
NM_018297.4(NGLY1):c.1515del (p.Arg506fs) rs1705416478
NM_018297.4(NGLY1):c.1516C>T (p.Arg506Ter)
NM_018297.4(NGLY1):c.151T>C (p.Tyr51His) rs1708261567
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018297.4(NGLY1):c.1539C>T (p.Thr513=)
NM_018297.4(NGLY1):c.153T>C (p.Tyr51=)
NM_018297.4(NGLY1):c.1551G>A (p.Trp517Ter) rs2125459623
NM_018297.4(NGLY1):c.1552G>C (p.Glu518Gln)
NM_018297.4(NGLY1):c.1560C>A (p.Gly520=)
NM_018297.4(NGLY1):c.1561G>A (p.Val521Met)
NM_018297.4(NGLY1):c.1563G>A (p.Val521=)
NM_018297.4(NGLY1):c.1563G>T (p.Val521=) rs375604564
NM_018297.4(NGLY1):c.1567A>G (p.Lys523Glu) rs763560541
NM_018297.4(NGLY1):c.156A>G (p.Arg52=) rs2125321816
NM_018297.4(NGLY1):c.1570dup (p.Met524fs) rs1553652151
NM_018297.4(NGLY1):c.15A>G (p.Ala5=)
NM_018297.4(NGLY1):c.15A>T (p.Ala5=)
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter) rs767388144
NM_018297.4(NGLY1):c.1611+11G>A rs2125459434
NM_018297.4(NGLY1):c.1611+12C>G
NM_018297.4(NGLY1):c.1611+13A>G
NM_018297.4(NGLY1):c.1611+14T>C
NM_018297.4(NGLY1):c.1611+1G>C
NM_018297.4(NGLY1):c.1611+3A>C
NM_018297.4(NGLY1):c.1611+9A>C
NM_018297.4(NGLY1):c.1612-10C>T rs1704914538
NM_018297.4(NGLY1):c.1612-12T>C
NM_018297.4(NGLY1):c.1612-15C>G
NM_018297.4(NGLY1):c.1612-16T>A
NM_018297.4(NGLY1):c.1612-18C>T
NM_018297.4(NGLY1):c.1615T>C (p.Tyr539His) rs2125443176
NM_018297.4(NGLY1):c.1625G>T (p.Arg542Leu) rs761945483
NM_018297.4(NGLY1):c.1629G>T (p.Lys543Asn) rs1306756725
NM_018297.4(NGLY1):c.162C>T (p.Ile54=)
NM_018297.4(NGLY1):c.1632A>T (p.Glu544Asp)
NM_018297.4(NGLY1):c.1632_1635del (p.Glu544fs)
NM_018297.4(NGLY1):c.1635A>T (p.Gly545=) rs1215937995
NM_018297.4(NGLY1):c.1637del (p.Ser546fs)
NM_018297.4(NGLY1):c.165G>T (p.Arg55=) rs2125321778
NM_018297.4(NGLY1):c.1660A>G (p.Lys554Glu) rs2125443059
NM_018297.4(NGLY1):c.1662G>A (p.Lys554=)
NM_018297.4(NGLY1):c.1668G>A (p.Glu556=)
NM_018297.4(NGLY1):c.1676C>T (p.Ser559Leu) rs1354238828
NM_018297.4(NGLY1):c.1681G>A (p.Gly561Ser) rs199719904
NM_018297.4(NGLY1):c.1682G>A (p.Gly561Asp)
NM_018297.4(NGLY1):c.1686A>G (p.Leu562=)
NM_018297.4(NGLY1):c.1687A>G (p.Lys563Glu) rs1704908411
NM_018297.4(NGLY1):c.1695T>C (p.Asp565=) rs1575604083
NM_018297.4(NGLY1):c.1696A>G (p.Ser566Gly)
NM_018297.4(NGLY1):c.1698C>T (p.Ser566=)
NM_018297.4(NGLY1):c.1709G>C (p.Arg570Thr) rs1704906682
NM_018297.4(NGLY1):c.1714AGT[1] (p.Ser573del) rs763674545
NM_018297.4(NGLY1):c.1722_1723insCA (p.Thr575fs) rs2125442902
NM_018297.4(NGLY1):c.1725T>G (p.Thr575=)
NM_018297.4(NGLY1):c.1731G>C (p.Gln577His)
NM_018297.4(NGLY1):c.1732A>G (p.Thr578Ala) rs780662676
NM_018297.4(NGLY1):c.1736G>C (p.Gly579Ala) rs2125442877
NM_018297.4(NGLY1):c.1736del (p.Gly579fs)
NM_018297.4(NGLY1):c.173A>G (p.Asn58Ser)
NM_018297.4(NGLY1):c.173del (p.Asn58fs)
NM_018297.4(NGLY1):c.1745A>G (p.Glu582Gly)
NM_018297.4(NGLY1):c.1746del (p.Glu582fs)
NM_018297.4(NGLY1):c.1748G>A (p.Trp583Ter) rs2125442838
NM_018297.4(NGLY1):c.1749G>A (p.Trp583Ter)
NM_018297.4(NGLY1):c.1752A>G (p.Lys584=) rs1704903765
NM_018297.4(NGLY1):c.1756C>G (p.Arg586Gly) rs1383370693
NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)
NM_018297.4(NGLY1):c.1757G>A (p.Arg586Gln) rs376913179
NM_018297.4(NGLY1):c.1757G>T (p.Arg586Leu)
NM_018297.4(NGLY1):c.1758A>G (p.Arg586=)
NM_018297.4(NGLY1):c.1764T>C (p.Asp588=)
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs) rs2125442722
NM_018297.4(NGLY1):c.1765A>G (p.Thr589Ala)
NM_018297.4(NGLY1):c.1767A>G (p.Thr589=) rs2125442804
NM_018297.4(NGLY1):c.176C>G (p.Thr59Arg)
NM_018297.4(NGLY1):c.1771C>T (p.Gln591Ter) rs765145201
NM_018297.4(NGLY1):c.1773A>G (p.Gln591=) rs1165637061
NM_018297.4(NGLY1):c.1776A>G (p.Val592=) rs2125442764
NM_018297.4(NGLY1):c.177del (p.Ala60fs) rs2125321733
NM_018297.4(NGLY1):c.1789+12C>G
NM_018297.4(NGLY1):c.1789+16G>A
NM_018297.4(NGLY1):c.1789+17A>C rs771273627
NM_018297.4(NGLY1):c.1789+18G>T
NM_018297.4(NGLY1):c.1789+20_1789+21del
NM_018297.4(NGLY1):c.1790-12del rs531889481
NM_018297.4(NGLY1):c.1790-12dup rs531889481
NM_018297.4(NGLY1):c.1790-13_1790-12dup
NM_018297.4(NGLY1):c.1790-6T>C rs2125441817
NM_018297.4(NGLY1):c.1790-9dup
NM_018297.4(NGLY1):c.1790A>G (p.Asp597Gly) rs1353013215
NM_018297.4(NGLY1):c.1790A>T (p.Asp597Val)
NM_018297.4(NGLY1):c.1794C>T (p.Asn598=) rs1575603526
NM_018297.4(NGLY1):c.1797T>A (p.Ser599Arg)
NM_018297.4(NGLY1):c.1805C>G (p.Ser602Cys) rs899798907
NM_018297.4(NGLY1):c.1806C>T (p.Ser602=) rs2125441732
NM_018297.4(NGLY1):c.1808A>T (p.Tyr603Phe) rs777069327
NM_018297.4(NGLY1):c.180C>G (p.Ala60=)
NM_018297.4(NGLY1):c.1819dup (p.Ser607fs) rs1470912253
NM_018297.4(NGLY1):c.1829C>T (p.Thr610Ile) rs1156427347
NM_018297.4(NGLY1):c.1833A>C (p.Glu611Asp) rs1704873404
NM_018297.4(NGLY1):c.1838T>C (p.Ile613Thr) rs2125441642
NM_018297.4(NGLY1):c.1848A>G (p.Ala616=)
NM_018297.4(NGLY1):c.1857C>T (p.Ser619=) rs1470026848
NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del) rs771630737
NM_018297.4(NGLY1):c.1875C>G (p.Val625=) rs117889176
NM_018297.4(NGLY1):c.1875C>T (p.Val625=) rs117889176
NM_018297.4(NGLY1):c.1882del (p.Gln628fs)
NM_018297.4(NGLY1):c.1887C>T (p.His629=) rs763977884
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018297.4(NGLY1):c.1894C>G (p.Leu632Val)
NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser) rs1553649841
NM_018297.4(NGLY1):c.1917C>T (p.Asp639=)
NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr) rs529998714
NM_018297.4(NGLY1):c.1920T>C (p.His640=)
NM_018297.4(NGLY1):c.1923A>G (p.Glu641=)
NM_018297.4(NGLY1):c.1941A>C (p.Ile647=)
NM_018297.4(NGLY1):c.1941A>T (p.Ile647=) rs2125441327
NM_018297.4(NGLY1):c.1950A>G (p.Lys650=)
NM_018297.4(NGLY1):c.1952_1953delinsAG (p.Phe651Ter) rs2125441274
NM_018297.4(NGLY1):c.1953C>T (p.Phe651=)
NM_018297.4(NGLY1):c.195C>G (p.Leu65=)
NM_018297.4(NGLY1):c.196T>C (p.Leu66=)
NM_018297.4(NGLY1):c.199C>T (p.Pro67Ser) rs1355136163
NM_018297.4(NGLY1):c.200C>G (p.Pro67Arg)
NM_018297.4(NGLY1):c.205A>G (p.Arg69Gly) rs2125321653
NM_018297.4(NGLY1):c.206G>T (p.Arg69Ile)
NM_018297.4(NGLY1):c.215T>C (p.Val72Ala)
NM_018297.4(NGLY1):c.218A>G (p.Glu73Gly) rs1708258319
NM_018297.4(NGLY1):c.21C>A (p.Gly7=)
NM_018297.4(NGLY1):c.236del (p.Gly79fs)
NM_018297.4(NGLY1):c.237C>T (p.Gly79=)
NM_018297.4(NGLY1):c.240T>C (p.Phe80=)
NM_018297.4(NGLY1):c.243A>G (p.Glu81=)
NM_018297.4(NGLY1):c.246+11T>A
NM_018297.4(NGLY1):c.246+13A>C rs2125321569
NM_018297.4(NGLY1):c.246+19T>G
NM_018297.4(NGLY1):c.246+5G>A rs1708257371
NM_018297.4(NGLY1):c.246+8T>C rs373747843
NM_018297.4(NGLY1):c.247-12T>C
NM_018297.4(NGLY1):c.247-17A>G
NM_018297.4(NGLY1):c.247-18dup rs762803518
NM_018297.4(NGLY1):c.247-1G>A rs1575650389
NM_018297.4(NGLY1):c.247-2A>G
NM_018297.4(NGLY1):c.247-2A>T
NM_018297.4(NGLY1):c.247-6T>C
NM_018297.4(NGLY1):c.255A>C (p.Thr85=)
NM_018297.4(NGLY1):c.26C>G (p.Ser9Cys) rs1708511856
NM_018297.4(NGLY1):c.270del (p.Ala93fs)
NM_018297.4(NGLY1):c.276del (p.Ala93fs)
NM_018297.4(NGLY1):c.288G>A (p.Glu96=)
NM_018297.4(NGLY1):c.291G>T (p.Gln97His) rs780364011
NM_018297.4(NGLY1):c.2T>C (p.Met1Thr) rs1708515209
NM_018297.4(NGLY1):c.301dup (p.Ile101fs)
NM_018297.4(NGLY1):c.305G>T (p.Arg102Leu) rs750589736
NM_018297.4(NGLY1):c.30A>G (p.Ser10=)
NM_018297.4(NGLY1):c.30A>T (p.Ser10=)
NM_018297.4(NGLY1):c.319A>C (p.Ile107Leu) rs757774666
NM_018297.4(NGLY1):c.319A>G (p.Ile107Val) rs757774666
NM_018297.4(NGLY1):c.333C>A (p.Ser111Arg) rs2125289646
NM_018297.4(NGLY1):c.336A>G (p.Arg112=)
NM_018297.4(NGLY1):c.341A>C (p.Asp114Ala) rs2125289618
NM_018297.4(NGLY1):c.341A>T (p.Asp114Val) rs2125289618
NM_018297.4(NGLY1):c.351T>C (p.Asn117=)
NM_018297.4(NGLY1):c.35C>A (p.Ser12Ter)
NM_018297.4(NGLY1):c.362A>G (p.Lys121Arg) rs1707449367
NM_018297.4(NGLY1):c.364G>A (p.Val122Ile) rs1707449249
NM_018297.4(NGLY1):c.366A>C (p.Val122=)
NM_018297.4(NGLY1):c.369G>A (p.Lys123=)
NM_018297.4(NGLY1):c.370T>G (p.Ser124Ala) rs1486033521
NM_018297.4(NGLY1):c.371C>T (p.Ser124Leu) rs1707448596
NM_018297.4(NGLY1):c.372A>G (p.Ser124=)
NM_018297.4(NGLY1):c.375T>C (p.Ser125=)
NM_018297.4(NGLY1):c.381A>G (p.Gln127=) rs1285258448
NM_018297.4(NGLY1):c.385G>A (p.Ala129Thr)
NM_018297.4(NGLY1):c.387A>C (p.Ala129=)
NM_018297.4(NGLY1):c.387A>G (p.Ala129=)
NM_018297.4(NGLY1):c.388G>A (p.Ala130Thr) rs200042243
NM_018297.4(NGLY1):c.391A>G (p.Ser131Gly) rs2125289409
NM_018297.4(NGLY1):c.395C>T (p.Thr132Ile)
NM_018297.4(NGLY1):c.39del (p.Ser14fs) rs1553666033
NM_018297.4(NGLY1):c.3GGC[5] (p.Ala5dup) rs753912717
NM_018297.4(NGLY1):c.403C>G (p.Pro135Ala) rs748043134
NM_018297.4(NGLY1):c.406A>G (p.Thr136Ala) rs1559551887
NM_018297.4(NGLY1):c.407C>G (p.Thr136Arg) rs2125289321
NM_018297.4(NGLY1):c.409A>C (p.Thr137Pro) rs372479316
NM_018297.4(NGLY1):c.419C>G (p.Ser140Ter)
NM_018297.4(NGLY1):c.419C>T (p.Ser140Leu) rs754379411
NM_018297.4(NGLY1):c.41C>A (p.Ser14Tyr) rs767547861
NM_018297.4(NGLY1):c.41C>T (p.Ser14Phe) rs767547861
NM_018297.4(NGLY1):c.424C>A (p.Pro142Thr) rs764719624
NM_018297.4(NGLY1):c.425C>T (p.Pro142Leu)
NM_018297.4(NGLY1):c.42C>G (p.Ser14=)
NM_018297.4(NGLY1):c.431G>A (p.Gly144Glu) rs1553660431
NM_018297.4(NGLY1):c.440_441del (p.Gln147fs)
NM_018297.4(NGLY1):c.448A>G (p.Arg150Gly) rs1559551749
NM_018297.4(NGLY1):c.450G>A (p.Arg150=)
NM_018297.4(NGLY1):c.453C>T (p.Asn151=) rs915008062
NM_018297.4(NGLY1):c.45G>A (p.Pro15=) rs2125331626
NM_018297.4(NGLY1):c.462G>A (p.Gly154=)
NM_018297.4(NGLY1):c.463C>A (p.Gln155Lys) rs1707440117
NM_018297.4(NGLY1):c.467C>T (p.Ser156Leu)
NM_018297.4(NGLY1):c.476C>T (p.Pro159Leu) rs1270766241
NM_018297.4(NGLY1):c.477A>T (p.Pro159=)
NM_018297.4(NGLY1):c.485C>G (p.Ala162Gly) rs746042656
NM_018297.4(NGLY1):c.485C>T (p.Ala162Val) rs746042656
NM_018297.4(NGLY1):c.492+18C>T
NM_018297.4(NGLY1):c.492+19C>T
NM_018297.4(NGLY1):c.492+8del
NM_018297.4(NGLY1):c.492G>A (p.Thr164=) rs778126026
NM_018297.4(NGLY1):c.492G>C (p.Thr164=)
NM_018297.4(NGLY1):c.493-10_493-9dup
NM_018297.4(NGLY1):c.493-14T>C rs2125513393
NM_018297.4(NGLY1):c.493-15T>G
NM_018297.4(NGLY1):c.493-18T>A
NM_018297.4(NGLY1):c.493-19dup rs746574174
NM_018297.4(NGLY1):c.493-2A>G
NM_018297.4(NGLY1):c.493-5A>G rs760591253
NM_018297.4(NGLY1):c.493-5A>T rs760591253
NM_018297.4(NGLY1):c.493-5dup rs2125513334
NM_018297.4(NGLY1):c.493-7del
NM_018297.4(NGLY1):c.493-9del rs746574174
NM_018297.4(NGLY1):c.494T>G (p.Val165Gly) rs1706734836
NM_018297.4(NGLY1):c.498T>G (p.Ala166=) rs1706734503
NM_018297.4(NGLY1):c.516A>T (p.Leu172=)
NM_018297.4(NGLY1):c.51G>A (p.Val17=)
NM_018297.4(NGLY1):c.531dup (p.Asn178fs)
NM_018297.4(NGLY1):c.539A>G (p.Gln180Arg) rs958601385
NM_018297.4(NGLY1):c.542A>G (p.His181Arg)
NM_018297.4(NGLY1):c.542A>T (p.His181Leu) rs369784943
NM_018297.4(NGLY1):c.548T>C (p.Leu183Pro) rs781700117
NM_018297.4(NGLY1):c.550G>A (p.Val184Ile) rs139636452
NM_018297.4(NGLY1):c.552C>T (p.Val184=) rs201451376
NM_018297.4(NGLY1):c.555T>A (p.Tyr185Ter)
NM_018297.4(NGLY1):c.562_563del (p.Pro188fs)
NM_018297.4(NGLY1):c.567T>C (p.Ala189=) rs2125512978
NM_018297.4(NGLY1):c.571C>T (p.Gln191Ter) rs376678889
NM_018297.4(NGLY1):c.580G>A (p.Ala194Thr) rs757980826
NM_018297.4(NGLY1):c.586G>T (p.Ala196Ser) rs1706727828
NM_018297.4(NGLY1):c.587C>A (p.Ala196Asp)
NM_018297.4(NGLY1):c.588T>G (p.Ala196=) rs756770131
NM_018297.4(NGLY1):c.599T>G (p.Val200Gly) rs2125512805
NM_018297.4(NGLY1):c.600C>T (p.Val200=)
NM_018297.4(NGLY1):c.612A>G (p.Lys204=)
NM_018297.4(NGLY1):c.619T>C (p.Ser207Pro)
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) rs200561967
NM_018297.4(NGLY1):c.629A>C (p.Lys210Thr) rs1553657104
NM_018297.4(NGLY1):c.633A>T (p.Leu211Phe) rs1706724401
NM_018297.4(NGLY1):c.634T>C (p.Ser212Pro) rs879052893
NM_018297.4(NGLY1):c.636G>A (p.Ser212=) rs201479575
NM_018297.4(NGLY1):c.63C>A (p.Cys21Ter)
NM_018297.4(NGLY1):c.643A>G (p.Arg215Gly) rs551759932
NM_018297.4(NGLY1):c.645A>G (p.Arg215=)
NM_018297.4(NGLY1):c.658+14A>T
NM_018297.4(NGLY1):c.658+18T>G
NM_018297.4(NGLY1):c.658+5T>C rs1322075070
NM_018297.4(NGLY1):c.658+6A>G rs2125512565
NM_018297.4(NGLY1):c.658+7G>C rs752709827
NM_018297.4(NGLY1):c.659-10A>T
NM_018297.4(NGLY1):c.659-15C>G
NM_018297.4(NGLY1):c.659-17C>T
NM_018297.4(NGLY1):c.659-19T>A
NM_018297.4(NGLY1):c.659-20dup
NM_018297.4(NGLY1):c.659-6T>G rs1049813524
NM_018297.4(NGLY1):c.665A>G (p.Asn222Ser)
NM_018297.4(NGLY1):c.666T>C (p.Asn222=)
NM_018297.4(NGLY1):c.66G>C (p.Gln22His)
NM_018297.4(NGLY1):c.675T>C (p.Asp225=)
NM_018297.4(NGLY1):c.690G>T (p.Leu230Phe) rs2125485635
NM_018297.4(NGLY1):c.6G>A (p.Ala2=)
NM_018297.4(NGLY1):c.6G>C (p.Ala2=)
NM_018297.4(NGLY1):c.720A>G (p.Glu240=)
NM_018297.4(NGLY1):c.726dup (p.His243fs) rs1706033199
NM_018297.4(NGLY1):c.729C>T (p.His243=)
NM_018297.4(NGLY1):c.731G>A (p.Trp244Ter)
NM_018297.4(NGLY1):c.745T>C (p.Leu249=) rs2125485452
NM_018297.4(NGLY1):c.749G>A (p.Cys250Tyr) rs1440956965
NM_018297.4(NGLY1):c.761G>T (p.Gly254Val) rs748897361
NM_018297.4(NGLY1):c.773G>T (p.Arg258Met) rs1252562045
NM_018297.4(NGLY1):c.774G>T (p.Arg258Ser) rs1706027866
NM_018297.4(NGLY1):c.780A>T (p.Arg260Ser) rs2125485237
NM_018297.4(NGLY1):c.787T>C (p.Ser263Pro)
NM_018297.4(NGLY1):c.78G>C (p.Glu26Asp)
NM_018297.4(NGLY1):c.78G>T (p.Glu26Asp)
NM_018297.4(NGLY1):c.795G>A (p.Leu265=)
NM_018297.4(NGLY1):c.795G>T (p.Leu265=)
NM_018297.4(NGLY1):c.798C>T (p.Pro266=)
NM_018297.4(NGLY1):c.804T>C (p.Asp268=)
NM_018297.4(NGLY1):c.806A>T (p.Asp269Val)
NM_018297.4(NGLY1):c.807T>A (p.Asp269Glu)
NM_018297.4(NGLY1):c.816G>A (p.Lys272=)
NM_018297.4(NGLY1):c.819G>A (p.Trp273Ter)
NM_018297.4(NGLY1):c.821G>A (p.Gly274Asp) rs1706023881
NM_018297.4(NGLY1):c.834G>T (p.Val278=) rs1437417087
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter) rs772994617
NM_018297.4(NGLY1):c.877C>G (p.Pro293Ala) rs775963261
NM_018297.4(NGLY1):c.880A>G (p.Arg294Gly) rs1706019869
NM_018297.4(NGLY1):c.881+10C>G rs780077758
NM_018297.4(NGLY1):c.881+10C>T rs780077758
NM_018297.4(NGLY1):c.881+12G>C rs758181219
NM_018297.4(NGLY1):c.881+16G>A
NM_018297.4(NGLY1):c.881+17G>A
NM_018297.4(NGLY1):c.881+18T>C
NM_018297.4(NGLY1):c.882-13dup
NM_018297.4(NGLY1):c.882-14del rs762807225
NM_018297.4(NGLY1):c.882-14dup rs762807225
NM_018297.4(NGLY1):c.882-19T>G
NM_018297.4(NGLY1):c.882-7A>T rs1575620004
NM_018297.4(NGLY1):c.882-9T>G
NM_018297.4(NGLY1):c.88G>A (p.Glu30Lys) rs1708506506
NM_018297.4(NGLY1):c.891C>A (p.Asn297Lys)
NM_018297.4(NGLY1):c.901C>G (p.Leu301Val) rs761507528
NM_018297.4(NGLY1):c.904_905del (p.Leu302fs) rs2125479237
NM_018297.4(NGLY1):c.923G>A (p.Arg308Gln) rs746594019
NM_018297.4(NGLY1):c.925T>C (p.Cys309Arg)
NM_018297.4(NGLY1):c.939C>G (p.Ala313=)
NM_018297.4(NGLY1):c.93C>T (p.Ala31=)
NM_018297.4(NGLY1):c.948_949insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGGCCAATTGTTTT (p.Thr317delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_018297.4(NGLY1):c.954G>A (p.Leu318=)
NM_018297.4(NGLY1):c.961C>A (p.Arg321=)
NM_018297.4(NGLY1):c.967G>A (p.Val323Ile) rs1279950302
NM_018297.4(NGLY1):c.96C>G (p.Ser32=) rs1454302547
NM_018297.4(NGLY1):c.96C>T (p.Ser32=)
NM_018297.4(NGLY1):c.978A>G (p.Glu326=)
NM_018297.4(NGLY1):c.997dup (p.Tyr333fs) rs2125478810
NM_018297.4(NGLY1):c.999C>A (p.Tyr333Ter) rs2125478800

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.