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.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.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.131+38G>A
|
rs183348716
|
0.00019
|
NM_018297.4(NGLY1):c.582G>A (p.Ala194=)
|
rs373961978
|
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.131+11A>G
|
rs377289212
|
0.00003
|
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=)
|
rs760580010
|
0.00002
|
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.783T>C (p.Asp261=)
|
rs147024365
|
0.00001
|
NM_018297.4(NGLY1):c.834G>A (p.Val278=)
|
rs1437417087
|
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.132-238del
|
rs565447910
|
|
NM_018297.4(NGLY1):c.132-264dup
|
rs565447910
|
|
NM_018297.4(NGLY1):c.1789+17A>C
|
rs771273627
|
|
NM_018297.4(NGLY1):c.1857C>T (p.Ser619=)
|
rs1470026848
|
|
NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr)
|
rs529998714
|
|
NM_018297.4(NGLY1):c.492+287G>A
|
rs190691777
|
|
NM_018297.4(NGLY1):c.493-232A>G
|
rs9810319
|
|
NM_018297.4(NGLY1):c.882-14dup
|
rs762807225
|
|