NM_018297.4(NGLY1):c.492+167G>A
|
rs2101477
|
0.99924
|
NM_018297.4(NGLY1):c.1260+7T>G
|
rs6550987
|
0.81668
|
NM_018297.4(NGLY1):c.1260+110A>G
|
rs1488992
|
0.72185
|
NM_018297.4(NGLY1):c.1425+213A>C
|
rs10780014
|
0.70830
|
NM_018297.4(NGLY1):c.247-77A>G
|
rs11129208
|
0.70695
|
NM_018297.4(NGLY1):c.492+257A>G
|
rs2886127
|
0.64374
|
NM_018297.4(NGLY1):c.1612-277A>T
|
rs2932016
|
0.63898
|
NM_018297.4(NGLY1):c.132-224A>C
|
rs4681074
|
0.63215
|
NM_001145294.2(NGLY1):c.6-5124A>C
|
rs75640939
|
0.12035
|
NM_018297.4(NGLY1):c.246+193A>G
|
rs13073647
|
0.09826
|
NM_018297.4(NGLY1):c.882-96A>G
|
rs34017791
|
0.04787
|
NM_018297.4(NGLY1):c.132-14T>C
|
rs77109827
|
0.04444
|
NM_018297.4(NGLY1):c.659-102A>T
|
rs79623349
|
0.04091
|
NM_018297.4(NGLY1):c.132-274C>A
|
rs181352262
|
0.01640
|
NM_018297.4(NGLY1):c.132-39G>T
|
rs76180231
|
0.01009
|
NM_001145294.2(NGLY1):c.-157T>C
|
rs41285079
|
0.00923
|
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=)
|
rs73155397
|
0.00539
|
NM_018297.4(NGLY1):c.1611+297A>G
|
rs116184031
|
0.00467
|
NM_018297.4(NGLY1):c.1425+50T>C
|
rs79372214
|
0.00456
|
NM_018297.4(NGLY1):c.1790-80A>G
|
rs111284196
|
0.00455
|
NM_018297.4(NGLY1):c.1789+174T>C
|
rs78168695
|
0.00450
|
NM_018297.4(NGLY1):c.882-225G>A
|
rs138327351
|
0.00436
|
NM_018297.4(NGLY1):c.1261-48A>G
|
rs201859775
|
0.00212
|
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.881+8C>T
|
rs143998271
|
0.00072
|
NM_018297.4(NGLY1):c.1149+43T>C
|
rs117452145
|
0.00066
|
NM_018297.4(NGLY1):c.1608C>A (p.His536Gln)
|
rs138108375
|
0.00066
|
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.1150-37A>G
|
rs373032026
|
0.00024
|
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser)
|
rs370175393
|
0.00024
|
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.131+38G>A
|
rs183348716
|
0.00019
|
NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu)
|
rs144144643
|
0.00013
|
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.1804T>C (p.Ser602Pro)
|
rs112709918
|
0.00007
|
NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly)
|
rs200463539
|
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.1235A>T (p.Asp412Val)
|
rs778513258
|
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.468A>G (p.Ser156=)
|
rs776423647
|
0.00004
|
NM_018297.4(NGLY1):c.741C>T (p.Asn247=)
|
rs368580768
|
0.00004
|
NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe)
|
rs1056459017
|
0.00003
|
NM_018297.4(NGLY1):c.131+11A>G
|
rs377289212
|
0.00003
|
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter)
|
rs768131676
|
0.00003
|
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)
|
rs757712371
|
0.00002
|
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=)
|
rs760580010
|
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.1109G>A (p.Gly370Asp)
|
rs757885829
|
0.00001
|
NM_018297.4(NGLY1):c.1150-1G>C
|
rs532007026
|
0.00001
|
NM_018297.4(NGLY1):c.1214T>C (p.Val405Ala)
|
rs1474736365
|
0.00001
|
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)
|
rs146140738
|
0.00001
|
NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile)
|
rs564037973
|
0.00001
|
NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser)
|
rs544148699
|
0.00001
|
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter)
|
rs528583612
|
0.00001
|
NM_018297.4(NGLY1):c.1789+5G>A
|
rs772184143
|
0.00001
|
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)
|
rs752256415
|
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.596C>T (p.Pro199Leu)
|
rs760530009
|
0.00001
|
NM_018297.4(NGLY1):c.658+1G>A
|
rs756045177
|
0.00001
|
NM_018297.4(NGLY1):c.783T>C (p.Asp261=)
|
rs147024365
|
0.00001
|
NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile)
|
rs147901411
|
0.00001
|
NM_018297.4(NGLY1):c.834G>A (p.Val278=)
|
rs1437417087
|
0.00001
|
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter)
|
rs755009745
|
0.00001
|
NM_018297.4(NGLY1):c.972G>A (p.Gly324=)
|
rs1057521904
|
0.00001
|
NM_001145294.2(NGLY1):c.-113C>T
|
rs115286377
|
|
NM_018297.4(NGLY1):c.1004-379del
|
rs573025171
|
|
NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro)
|
rs1135401728
|
|
NM_018297.4(NGLY1):c.1242del (p.Asn415fs)
|
rs1575616394
|
|
NM_018297.4(NGLY1):c.1260+240T>A
|
rs1488991
|
|
NM_018297.4(NGLY1):c.132-188del
|
rs34966577
|
|
NM_018297.4(NGLY1):c.132-205del
|
rs55749138
|
|
NM_018297.4(NGLY1):c.132-238del
|
rs565447910
|
|
NM_018297.4(NGLY1):c.132-239_132-238del
|
rs565447910
|
|
NM_018297.4(NGLY1):c.132-252_132-238del
|
rs565447910
|
|
NM_018297.4(NGLY1):c.132-264dup
|
rs565447910
|
|
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs)
|
rs587777265
|
|
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs)
|
rs1575612023
|
|
NM_018297.4(NGLY1):c.14C>A (p.Ala5Glu)
|
rs779267801
|
|
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)
|
rs765211108
|
|
NM_018297.4(NGLY1):c.1570dup (p.Met524fs)
|
rs1553652151
|
|
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter)
|
rs767388144
|
|
NM_018297.4(NGLY1):c.1789+119dup
|
rs5847370
|
|
NM_018297.4(NGLY1):c.1789+17A>C
|
rs771273627
|
|
NM_018297.4(NGLY1):c.1789+1G>T
|
rs1261363915
|
|
NM_018297.4(NGLY1):c.1819dup (p.Ser607fs)
|
rs1470912253
|
|
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.1891del (p.Gln631fs)
|
rs587776982
|
|
NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer)
|
rs1135401730
|
|
NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser)
|
rs1553649841
|
|
NM_018297.4(NGLY1):c.1913del (p.Asn638fs)
|
rs1553649843
|
|
NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr)
|
rs529998714
|
|
NM_018297.4(NGLY1):c.1956T>A (p.Ser652Arg)
|
rs2125441242
|
|
NM_018297.4(NGLY1):c.2T>C (p.Met1Thr)
|
rs1708515209
|
|
NM_018297.4(NGLY1):c.319A>C (p.Ile107Leu)
|
rs757774666
|
|
NM_018297.4(NGLY1):c.32G>C (p.Gly11Ala)
|
rs1225525624
|
|
NM_018297.4(NGLY1):c.3GGC[5] (p.Ala5dup)
|
rs753912717
|
|
NM_018297.4(NGLY1):c.406A>G (p.Thr136Ala)
|
rs1559551887
|
|
NM_018297.4(NGLY1):c.492+287G>A
|
rs190691777
|
|
NM_018297.4(NGLY1):c.493-19dup
|
rs746574174
|
|
NM_018297.4(NGLY1):c.493-232A>G
|
rs9810319
|
|
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter)
|
rs200561967
|
|
NM_018297.4(NGLY1):c.658+281T>C
|
rs4681032
|
|
NM_018297.4(NGLY1):c.798del (p.Ser267fs)
|
rs1575622147
|
|
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter)
|
rs772994617
|
|
NM_018297.4(NGLY1):c.882-14dup
|
rs762807225
|
|