NM_018297.4(NGLY1):c.1579A>G (p.Ile527Val)
|
rs112237307
|
0.00160
|
NM_018297.4(NGLY1):c.1508G>A (p.Arg503His)
|
rs139134926
|
0.00150
|
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.1560C>T (p.Gly520=)
|
rs138477428
|
0.00036
|
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.663C>T (p.Ile221=)
|
rs373934325
|
0.00014
|
NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu)
|
rs144144643
|
0.00013
|
NM_018297.4(NGLY1):c.414A>G (p.Pro138=)
|
rs145234847
|
0.00011
|
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.1611+17A>C
|
rs370336045
|
0.00006
|
NM_018297.4(NGLY1):c.247-13T>G
|
rs201976588
|
0.00006
|
NM_018297.4(NGLY1):c.882-18T>C
|
rs550320343
|
0.00006
|
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.132-8T>C
|
rs750383442
|
0.00004
|
NM_018297.4(NGLY1):c.1426-13C>T
|
rs767706125
|
0.00004
|
NM_018297.4(NGLY1):c.246+15G>A
|
rs186233424
|
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.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.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.1789+8T>C
|
rs759588336
|
0.00003
|
NM_018297.4(NGLY1):c.1790-7C>G
|
rs778776817
|
0.00003
|
NM_018297.4(NGLY1):c.597G>A (p.Pro199=)
|
rs369840629
|
0.00003
|
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=)
|
rs760580010
|
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.465G>A (p.Gln155=)
|
rs537713428
|
0.00002
|
NM_018297.4(NGLY1):c.591T>C (p.Cys197=)
|
rs371185733
|
0.00002
|
NM_018297.4(NGLY1):c.1004-5A>G
|
rs775894052
|
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.1257G>A (p.Lys419=)
|
rs1575616373
|
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.1425+20A>G
|
rs773050159
|
0.00001
|
NM_018297.4(NGLY1):c.1426-20A>G
|
rs752766144
|
0.00001
|
NM_018297.4(NGLY1):c.1437C>T (p.Thr479=)
|
rs752135335
|
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.1612-4A>G
|
rs376954734
|
0.00001
|
NM_018297.4(NGLY1):c.1614A>G (p.Val538=)
|
rs1485372453
|
0.00001
|
NM_018297.4(NGLY1):c.16T>C (p.Leu6=)
|
rs1481308931
|
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.1789+14T>G
|
rs774500712
|
0.00001
|
NM_018297.4(NGLY1):c.1933T>C (p.Leu645=)
|
rs1704866696
|
0.00001
|
NM_018297.4(NGLY1):c.198G>A (p.Leu66=)
|
rs768484670
|
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.27C>G (p.Ser9=)
|
rs777336195
|
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.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.493-9T>C
|
rs763962126
|
0.00001
|
NM_018297.4(NGLY1):c.519A>G (p.Glu173=)
|
rs1197877731
|
0.00001
|
NM_018297.4(NGLY1):c.57G>A (p.Glu19=)
|
rs146946624
|
0.00001
|
NM_018297.4(NGLY1):c.603A>G (p.Gln201=)
|
rs1444650804
|
0.00001
|
NM_018297.4(NGLY1):c.648A>G (p.Lys216=)
|
rs563065066
|
0.00001
|
NM_018297.4(NGLY1):c.750C>T (p.Cys250=)
|
rs774509442
|
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.801T>C (p.Ser267=)
|
rs199578758
|
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.894T>A (p.Pro298=)
|
rs1385420166
|
0.00001
|
NM_018297.4(NGLY1):c.904T>C (p.Leu302=)
|
rs1157809772
|
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.972G>A (p.Gly324=)
|
rs1057521904
|
0.00001
|
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+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.1026T>C (p.Tyr342=)
|
|
|
NM_018297.4(NGLY1):c.1038G>A (p.Gln346=)
|
rs2125475740
|
|
NM_018297.4(NGLY1):c.1044G>C (p.Arg348=)
|
|
|
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.1086A>G (p.Pro362=)
|
|
|
NM_018297.4(NGLY1):c.108C>T (p.Leu36=)
|
rs2125331364
|
|
NM_018297.4(NGLY1):c.1110C>A (p.Gly370=)
|
|
|
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.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.1168C>A (p.Arg390=)
|
rs751805500
|
|
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.1194G>C (p.Val398=)
|
|
|
NM_018297.4(NGLY1):c.1203A>G (p.Arg401=)
|
|
|
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.1248G>A (p.Gly416=)
|
|
|
NM_018297.4(NGLY1):c.1248G>C (p.Gly416=)
|
|
|
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+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.1261-15A>C
|
|
|
NM_018297.4(NGLY1):c.1261-15A>T
|
|
|
NM_018297.4(NGLY1):c.1261-19T>A
|
|
|
NM_018297.4(NGLY1):c.1263G>A (p.Arg421=)
|
|
|
NM_018297.4(NGLY1):c.1266A>G (p.Gln422=)
|
|
|
NM_018297.4(NGLY1):c.1272T>C (p.Phe424=)
|
rs2125466297
|
|
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.1302C>T (p.Leu434=)
|
rs1183019367
|
|
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.1347C>T (p.Thr449=)
|
|
|
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.1426-14G>A
|
|
|
NM_018297.4(NGLY1):c.1426-6T>C
|
|
|
NM_018297.4(NGLY1):c.1426-8T>G
|
|
|
NM_018297.4(NGLY1):c.1470T>C (p.Ser490=)
|
|
|
NM_018297.4(NGLY1):c.1482C>T (p.His494=)
|
rs1006571126
|
|
NM_018297.4(NGLY1):c.1485T>C (p.Leu495=)
|
|
|
NM_018297.4(NGLY1):c.1488T>C (p.Cys496=)
|
|
|
NM_018297.4(NGLY1):c.1491C>T (p.Tyr497=)
|
|
|
NM_018297.4(NGLY1):c.1503A>G (p.Lys501=)
|
|
|
NM_018297.4(NGLY1):c.1512T>C (p.Tyr504=)
|
|
|
NM_018297.4(NGLY1):c.1539C>T (p.Thr513=)
|
|
|
NM_018297.4(NGLY1):c.153T>C (p.Tyr51=)
|
|
|
NM_018297.4(NGLY1):c.1560C>A (p.Gly520=)
|
|
|
NM_018297.4(NGLY1):c.1563G>A (p.Val521=)
|
|
|
NM_018297.4(NGLY1):c.1563G>T (p.Val521=)
|
rs375604564
|
|
NM_018297.4(NGLY1):c.156A>G (p.Arg52=)
|
rs2125321816
|
|
NM_018297.4(NGLY1):c.15A>G (p.Ala5=)
|
|
|
NM_018297.4(NGLY1):c.15A>T (p.Ala5=)
|
|
|
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+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.162C>T (p.Ile54=)
|
|
|
NM_018297.4(NGLY1):c.1635A>T (p.Gly545=)
|
rs1215937995
|
|
NM_018297.4(NGLY1):c.165G>T (p.Arg55=)
|
rs2125321778
|
|
NM_018297.4(NGLY1):c.1662G>A (p.Lys554=)
|
|
|
NM_018297.4(NGLY1):c.1668G>A (p.Glu556=)
|
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|
NM_018297.4(NGLY1):c.1686A>G (p.Leu562=)
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|
NM_018297.4(NGLY1):c.1695T>C (p.Asp565=)
|
rs1575604083
|
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NM_018297.4(NGLY1):c.1698C>T (p.Ser566=)
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NM_018297.4(NGLY1):c.1725T>G (p.Thr575=)
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NM_018297.4(NGLY1):c.1752A>G (p.Lys584=)
|
rs1704903765
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NM_018297.4(NGLY1):c.1758A>G (p.Arg586=)
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|
NM_018297.4(NGLY1):c.1764T>C (p.Asp588=)
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NM_018297.4(NGLY1):c.1767A>G (p.Thr589=)
|
rs2125442804
|
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NM_018297.4(NGLY1):c.1776A>G (p.Val592=)
|
rs2125442764
|
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NM_018297.4(NGLY1):c.1789+12C>G
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NM_018297.4(NGLY1):c.1789+16G>A
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NM_018297.4(NGLY1):c.1789+17A>C
|
rs771273627
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NM_018297.4(NGLY1):c.1789+18G>T
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NM_018297.4(NGLY1):c.1789+20_1789+21del
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NM_018297.4(NGLY1):c.1790-6T>C
|
rs2125441817
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NM_018297.4(NGLY1):c.1790-9dup
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NM_018297.4(NGLY1):c.1794C>T (p.Asn598=)
|
rs1575603526
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NM_018297.4(NGLY1):c.1806C>T (p.Ser602=)
|
rs2125441732
|
|
NM_018297.4(NGLY1):c.180C>G (p.Ala60=)
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NM_018297.4(NGLY1):c.1848A>G (p.Ala616=)
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NM_018297.4(NGLY1):c.1857C>T (p.Ser619=)
|
rs1470026848
|
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NM_018297.4(NGLY1):c.1875C>G (p.Val625=)
|
rs117889176
|
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NM_018297.4(NGLY1):c.1875C>T (p.Val625=)
|
rs117889176
|
|
NM_018297.4(NGLY1):c.1887C>T (p.His629=)
|
rs763977884
|
|
NM_018297.4(NGLY1):c.1917C>T (p.Asp639=)
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|
NM_018297.4(NGLY1):c.1920T>C (p.His640=)
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|
NM_018297.4(NGLY1):c.1923A>G (p.Glu641=)
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|
NM_018297.4(NGLY1):c.1941A>C (p.Ile647=)
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|
NM_018297.4(NGLY1):c.1941A>T (p.Ile647=)
|
rs2125441327
|
|
NM_018297.4(NGLY1):c.1950A>G (p.Lys650=)
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|
NM_018297.4(NGLY1):c.1953C>T (p.Phe651=)
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NM_018297.4(NGLY1):c.195C>G (p.Leu65=)
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NM_018297.4(NGLY1):c.196T>C (p.Leu66=)
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|
NM_018297.4(NGLY1):c.21C>A (p.Gly7=)
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NM_018297.4(NGLY1):c.237C>T (p.Gly79=)
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NM_018297.4(NGLY1):c.240T>C (p.Phe80=)
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|
NM_018297.4(NGLY1):c.243A>G (p.Glu81=)
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|
NM_018297.4(NGLY1):c.246+11T>A
|
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|
NM_018297.4(NGLY1):c.246+13A>C
|
rs2125321569
|
|
NM_018297.4(NGLY1):c.246+19T>G
|
|
|
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.247-6T>C
|
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|
NM_018297.4(NGLY1):c.255A>C (p.Thr85=)
|
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|
NM_018297.4(NGLY1):c.288G>A (p.Glu96=)
|
|
|
NM_018297.4(NGLY1):c.291G>T (p.Gln97His)
|
rs780364011
|
|
NM_018297.4(NGLY1):c.30A>G (p.Ser10=)
|
|
|
NM_018297.4(NGLY1):c.30A>T (p.Ser10=)
|
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|
NM_018297.4(NGLY1):c.336A>G (p.Arg112=)
|
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|
NM_018297.4(NGLY1):c.351T>C (p.Asn117=)
|
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|
NM_018297.4(NGLY1):c.366A>C (p.Val122=)
|
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|
NM_018297.4(NGLY1):c.369G>A (p.Lys123=)
|
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|
NM_018297.4(NGLY1):c.372A>G (p.Ser124=)
|
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|
NM_018297.4(NGLY1):c.375T>C (p.Ser125=)
|
|
|
NM_018297.4(NGLY1):c.381A>G (p.Gln127=)
|
rs1285258448
|
|
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.42C>G (p.Ser14=)
|
|
|
NM_018297.4(NGLY1):c.450G>A (p.Arg150=)
|
|
|
NM_018297.4(NGLY1):c.453C>T (p.Asn151=)
|
rs915008062
|
|
NM_018297.4(NGLY1):c.462G>A (p.Gly154=)
|
|
|
NM_018297.4(NGLY1):c.477A>T (p.Pro159=)
|
|
|
NM_018297.4(NGLY1):c.492+18C>T
|
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|
NM_018297.4(NGLY1):c.492+19C>T
|
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|
NM_018297.4(NGLY1):c.492+8del
|
|
|
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
|
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|
NM_018297.4(NGLY1):c.493-5A>G
|
rs760591253
|
|
NM_018297.4(NGLY1):c.493-5dup
|
rs2125513334
|
|
NM_018297.4(NGLY1):c.493-7del
|
|
|
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.552C>T (p.Val184=)
|
rs201451376
|
|
NM_018297.4(NGLY1):c.567T>C (p.Ala189=)
|
rs2125512978
|
|
NM_018297.4(NGLY1):c.588T>G (p.Ala196=)
|
rs756770131
|
|
NM_018297.4(NGLY1):c.600C>T (p.Val200=)
|
|
|
NM_018297.4(NGLY1):c.612A>G (p.Lys204=)
|
|
|
NM_018297.4(NGLY1):c.636G>A (p.Ser212=)
|
rs201479575
|
|
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+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
|
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|
NM_018297.4(NGLY1):c.659-19T>A
|
|
|
NM_018297.4(NGLY1):c.659-20dup
|
|
|
NM_018297.4(NGLY1):c.666T>C (p.Asn222=)
|
|
|
NM_018297.4(NGLY1):c.675T>C (p.Asp225=)
|
|
|
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.729C>T (p.His243=)
|
|
|
NM_018297.4(NGLY1):c.745T>C (p.Leu249=)
|
rs2125485452
|
|
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.816G>A (p.Lys272=)
|
|
|
NM_018297.4(NGLY1):c.834G>T (p.Val278=)
|
rs1437417087
|
|
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.882-19T>G
|
|
|
NM_018297.4(NGLY1):c.882-7A>T
|
rs1575620004
|
|
NM_018297.4(NGLY1):c.882-9T>G
|
|
|
NM_018297.4(NGLY1):c.939C>G (p.Ala313=)
|
|
|
NM_018297.4(NGLY1):c.93C>T (p.Ala31=)
|
|
|
NM_018297.4(NGLY1):c.954G>A (p.Leu318=)
|
|
|
NM_018297.4(NGLY1):c.961C>A (p.Arg321=)
|
|
|
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=)
|
|
|