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
|
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|
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
|
|