NM_020745.4(AARS2):c.1150-182C>T
|
rs161706
|
0.89585
|
NM_020745.4(AARS2):c.*149G>A
|
rs325009
|
0.88520
|
NM_020745.4(AARS2):c.2598+157C>T
|
rs325006
|
0.88066
|
NM_020745.4(AARS2):c.2683-20A>G
|
rs325007
|
0.87773
|
NM_020745.4(AARS2):c.2598+117G>C
|
rs325005
|
0.87685
|
NM_020745.4(AARS2):c.2607G>A (p.Lys869=)
|
rs498512
|
0.67400
|
NM_020745.4(AARS2):c.2007+257C>T
|
rs325000
|
0.66597
|
NM_020745.4(AARS2):c.243+6G>A
|
rs167772
|
0.50019
|
NM_020745.4(AARS2):c.1301-23T>G
|
rs324137
|
0.48996
|
NM_020745.4(AARS2):c.2146-24G>A
|
rs325001
|
0.47169
|
NM_020745.4(AARS2):c.2365-115G>C
|
rs325004
|
0.46847
|
NM_020745.4(AARS2):c.244-281A>G
|
rs3818685
|
0.43293
|
NM_020745.4(AARS2):c.581+16T>C
|
rs9688508
|
0.28633
|
NM_020745.4(AARS2):c.436-37G>A
|
rs41282672
|
0.28595
|
NM_020745.4(AARS2):c.749+139T>C
|
rs10807297
|
0.14253
|
NM_020745.4(AARS2):c.436-31_436-30insT
|
rs139386463
|
0.14245
|
NM_020745.4(AARS2):c.894+324A>G
|
rs56130549
|
0.12584
|
NM_020745.4(AARS2):c.2871= (p.Ser957=)
|
rs325008
|
0.12070
|
NM_020745.4(AARS2):c.1015= (p.Ile339=)
|
rs324136
|
0.10482
|
NM_020745.4(AARS2):c.1301-179G>T
|
rs9395001
|
0.06452
|
NM_020745.4(AARS2):c.1753-54G>T
|
rs74964556
|
0.03854
|
NM_020745.4(AARS2):c.1753-14C>G
|
rs74950428
|
0.03853
|
NM_020745.4(AARS2):c.2598+227G>A
|
rs2236500
|
0.03833
|
NM_020745.4(AARS2):c.2599-221A>G
|
rs12204222
|
0.03647
|
NM_020745.4(AARS2):c.2188G>A (p.Val730Met)
|
rs35623954
|
0.03189
|
NM_020745.4(AARS2):c.243+209G>A
|
rs116516830
|
0.02439
|
NM_020745.4(AARS2):c.243+151G>A
|
rs17288082
|
0.02262
|
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln)
|
rs35967387
|
0.01853
|
NM_020745.4(AARS2):c.2548A>G (p.Met850Val)
|
rs35783144
|
0.01782
|
NM_020745.4(AARS2):c.1150-102T>A
|
rs111524510
|
0.01674
|
NM_020745.4(AARS2):c.420G>A (p.Gly140=)
|
rs75506489
|
0.01671
|
NM_020745.4(AARS2):c.2007+45A>T
|
rs78610788
|
0.01670
|
NM_020745.4(AARS2):c.2440G>A (p.Val814Met)
|
rs111325758
|
0.01670
|
NM_020745.4(AARS2):c.436-140A>G
|
rs78350664
|
0.01668
|
NM_020745.4(AARS2):c.1753-13T>C
|
rs80339975
|
0.01667
|
NM_020745.4(AARS2):c.2008-297C>T
|
rs76553603
|
0.01667
|
NM_020745.4(AARS2):c.749+136C>A
|
rs116720208
|
0.01461
|
NM_020745.4(AARS2):c.1040+28C>T
|
rs78552484
|
0.01277
|
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu)
|
rs115815965
|
0.01205
|
NM_020745.4(AARS2):c.895-331T>G
|
rs75063435
|
0.01088
|
NM_020745.4(AARS2):c.2794-143G>A
|
rs77287454
|
0.01085
|
NM_020745.4(AARS2):c.2007+200C>T
|
rs113580146
|
0.01078
|
NM_020745.4(AARS2):c.2598+16G>T
|
rs113721536
|
0.01078
|
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser)
|
rs113433939
|
0.01077
|
NM_020745.4(AARS2):c.750-200A>G
|
rs77138332
|
0.01074
|
NM_020745.4(AARS2):c.1580-48C>T
|
rs76002081
|
0.01064
|
NM_020745.4(AARS2):c.436-92G>C
|
rs36117074
|
0.01056
|
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln)
|
rs34530313
|
0.01004
|
NM_020745.4(AARS2):c.749+14G>A
|
rs74709196
|
0.00947
|
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp)
|
rs112247130
|
0.00812
|
NM_020745.4(AARS2):c.2364+111T>C
|
rs115619046
|
0.00800
|
NM_001318876.2(POLR1C):c.946-128378C>A
|
rs115632431
|
0.00781
|
NM_020745.4(AARS2):c.895-253C>T
|
rs115030957
|
0.00781
|
NM_020745.4(AARS2):c.750-5G>A
|
rs78410483
|
0.00739
|
NM_020745.4(AARS2):c.2683-45G>C
|
rs77555031
|
0.00720
|
NM_020745.4(AARS2):c.2682+31G>C
|
rs77920790
|
0.00719
|
NM_020745.4(AARS2):c.2008-81A>C
|
rs77510689
|
0.00682
|
NM_020745.4(AARS2):c.2793+105G>A
|
rs150658816
|
0.00669
|
NM_020745.4(AARS2):c.1752G>A (p.Glu584=)
|
rs78525157
|
0.00653
|
NM_020745.4(AARS2):c.436-164A>G
|
rs150281682
|
0.00638
|
NM_020745.4(AARS2):c.435+224A>C
|
rs114397709
|
0.00632
|
NM_020745.4(AARS2):c.2007+8C>T
|
rs150125794
|
0.00599
|
NM_020745.4(AARS2):c.2364+55C>T
|
rs114243629
|
0.00591
|
NM_020745.4(AARS2):c.2793+191A>C
|
rs111611268
|
0.00590
|
NM_020745.4(AARS2):c.2256-51C>G
|
rs325003
|
0.00577
|
NM_020745.4(AARS2):c.435+150T>G
|
rs138936100
|
0.00545
|
NM_020745.4(AARS2):c.894+257T>A
|
rs141196093
|
0.00384
|
NM_020745.4(AARS2):c.2365-87C>T
|
rs59078350
|
0.00382
|
NM_020745.4(AARS2):c.2488-101A>G
|
rs144194985
|
0.00357
|
NM_020745.4(AARS2):c.2008-44G>A
|
rs199785702
|
0.00348
|
NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln)
|
rs150973108
|
0.00340
|
NM_020745.4(AARS2):c.1398C>T (p.Ser466=)
|
rs146711725
|
0.00249
|
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)
|
rs139372744
|
0.00220
|
NM_020745.4(AARS2):c.2253G>A (p.Gly751=)
|
rs78397386
|
0.00210
|
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)
|
rs147091256
|
0.00185
|
NM_020745.4(AARS2):c.2682+27C>T
|
rs190179603
|
0.00185
|
NM_020745.4(AARS2):c.-1G>C
|
rs369453852
|
0.00127
|
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr)
|
rs150039184
|
0.00123
|
NM_001318876.2(POLR1C):c.946-128526G>A
|
rs138333586
|
0.00085
|
NM_020745.4(AARS2):c.1173A>G (p.Gln391=)
|
rs150184415
|
0.00081
|
NM_020745.4(AARS2):c.1534G>C (p.Asp512His)
|
rs146512155
|
0.00073
|
NM_020745.4(AARS2):c.2598+11G>A
|
rs376223052
|
0.00073
|
NM_020745.4(AARS2):c.1558C>T (p.Leu520=)
|
rs139032394
|
0.00066
|
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys)
|
rs146924860
|
0.00060
|
NM_020745.4(AARS2):c.1195A>C (p.Asn399His)
|
rs148363748
|
0.00059
|
NM_020745.4(AARS2):c.1150-4C>G
|
rs141516924
|
0.00049
|
NM_020745.4(AARS2):c.243+19T>C
|
rs367781252
|
0.00049
|
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln)
|
rs141941157
|
0.00048
|
NM_020745.4(AARS2):c.895-16C>T
|
rs199695987
|
0.00039
|
NM_020745.4(AARS2):c.2683-9G>A
|
rs368363224
|
0.00029
|
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
|
rs138119149
|
0.00025
|
NM_020745.4(AARS2):c.678C>T (p.Tyr226=)
|
rs78135749
|
0.00023
|
NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr)
|
rs202171981
|
0.00021
|
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val)
|
rs143271585
|
0.00019
|
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr)
|
rs146765163
|
0.00016
|
NM_020745.4(AARS2):c.1756G>A (p.Val586Met)
|
rs201873561
|
0.00015
|
NM_020745.4(AARS2):c.1661G>A (p.Arg554His)
|
rs139280416
|
0.00014
|
NM_020745.4(AARS2):c.2551C>G (p.Leu851Val)
|
rs376103315
|
0.00014
|
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln)
|
rs139974034
|
0.00014
|
NM_020745.4(AARS2):c.2162T>C (p.Val721Ala)
|
rs775065697
|
0.00013
|
NM_020745.4(AARS2):c.2682+18C>T
|
rs549379670
|
0.00013
|
NM_020745.4(AARS2):c.*9C>T
|
rs772455600
|
0.00012
|
NM_020745.4(AARS2):c.422G>A (p.Gly141Asp)
|
rs373555804
|
0.00009
|
NM_020745.4(AARS2):c.435+9C>T
|
rs199955037
|
0.00009
|
NM_020745.4(AARS2):c.673C>T (p.His225Tyr)
|
rs200704447
|
0.00009
|
NM_020745.4(AARS2):c.2730G>A (p.Thr910=)
|
rs201616927
|
0.00007
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
NM_020745.4(AARS2):c.162T>C (p.His54=)
|
rs139144637
|
0.00006
|
NM_020745.4(AARS2):c.1832G>A (p.Arg611Gln)
|
rs150402972
|
0.00006
|
NM_020745.4(AARS2):c.407A>G (p.Asn136Ser)
|
rs781255698
|
0.00006
|
NM_020745.4(AARS2):c.2097G>T (p.Val699=)
|
rs779714788
|
0.00005
|
NM_020745.4(AARS2):c.882C>T (p.Asn294=)
|
rs141636040
|
0.00005
|
NM_020745.4(AARS2):c.244-7C>T
|
rs200662122
|
0.00004
|
NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg)
|
rs543267101
|
0.00004
|
NM_020745.4(AARS2):c.1052G>A (p.Arg351His)
|
rs863223862
|
0.00003
|
NM_020745.4(AARS2):c.10T>A (p.Ser4Thr)
|
rs755011099
|
0.00003
|
NM_020745.4(AARS2):c.1434+7G>A
|
rs953512104
|
0.00003
|
NM_020745.4(AARS2):c.2679C>T (p.Leu893=)
|
rs766642839
|
0.00003
|
NM_020745.4(AARS2):c.2812A>C (p.Thr938Pro)
|
rs763868546
|
0.00003
|
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val)
|
rs747312867
|
0.00003
|
NM_020745.4(AARS2):c.966C>T (p.Arg322=)
|
rs774493482
|
0.00002
|
NM_020745.4(AARS2):c.1008dup (p.Asp337Ter)
|
rs766771165
|
0.00001
|
NM_020745.4(AARS2):c.1047T>G (p.Val349=)
|
rs555363880
|
0.00001
|
NM_020745.4(AARS2):c.1189-11G>C
|
rs1346509852
|
0.00001
|
NM_020745.4(AARS2):c.132C>T (p.Ala44=)
|
rs756852994
|
0.00001
|
NM_020745.4(AARS2):c.1445G>A (p.Arg482Gln)
|
rs368303351
|
0.00001
|
NM_020745.4(AARS2):c.1519G>C (p.Val507Leu)
|
rs182596701
|
0.00001
|
NM_020745.4(AARS2):c.1764C>T (p.Phe588=)
|
rs200425170
|
0.00001
|
NM_020745.4(AARS2):c.1874G>A (p.Arg625His)
|
rs898375030
|
0.00001
|
NM_020745.4(AARS2):c.2032C>T (p.Arg678Trp)
|
rs751523537
|
0.00001
|
NM_020745.4(AARS2):c.2207C>T (p.Pro736Leu)
|
rs863223861
|
0.00001
|
NM_020745.4(AARS2):c.2255+7C>T
|
rs1057524079
|
0.00001
|
NM_020745.4(AARS2):c.2353C>G (p.Gln785Glu)
|
rs863223859
|
0.00001
|
NM_020745.4(AARS2):c.2392C>T (p.Gln798Ter)
|
rs751187394
|
0.00001
|
NM_020745.4(AARS2):c.2488-19G>A
|
rs548669358
|
0.00001
|
NM_020745.4(AARS2):c.2598+1G>T
|
rs768351915
|
0.00001
|
NM_020745.4(AARS2):c.268G>C (p.Val90Leu)
|
rs863223860
|
0.00001
|
NM_020745.4(AARS2):c.2952G>C (p.Gln984His)
|
rs760967545
|
0.00001
|
NM_020745.4(AARS2):c.946C>T (p.Arg316Cys)
|
rs765720580
|
0.00001
|
NM_020745.4(AARS2):c.1041-23G>C
|
rs111839169
|
|
NM_020745.4(AARS2):c.1041-29A>G
|
rs7740535
|
|
NM_020745.4(AARS2):c.1067G>A (p.Arg356Gln)
|
|
|
NM_020745.4(AARS2):c.115dup (p.Ala39fs)
|
rs971969514
|
|
NM_020745.4(AARS2):c.1189-16_1189-14del
|
rs144914586
|
|
NM_020745.4(AARS2):c.1199T>C (p.Leu400Pro)
|
|
|
NM_020745.4(AARS2):c.1262G>T (p.Arg421Leu)
|
rs143345225
|
|
NM_020745.4(AARS2):c.1281G>A (p.Gly427=)
|
rs557359115
|
|
NM_020745.4(AARS2):c.1301-13T>G
|
rs1057523445
|
|
NM_020745.4(AARS2):c.1366A>G (p.Met456Val)
|
|
|
NM_020745.4(AARS2):c.1408G>C (p.Glu470Gln)
|
rs863223863
|
|
NM_020745.4(AARS2):c.1486G>A (p.Val496Ile)
|
|
|
NM_020745.4(AARS2):c.1565C>G (p.Pro522Arg)
|
|
|
NM_020745.4(AARS2):c.1570G>A (p.Gly524Arg)
|
|
|
NM_020745.4(AARS2):c.1645G>A (p.Val549Met)
|
|
|
NM_020745.4(AARS2):c.1696G>A (p.Ala566Thr)
|
|
|
NM_020745.4(AARS2):c.1738C>T (p.Arg580Trp)
|
|
|
NM_020745.4(AARS2):c.1739G>A (p.Arg580Gln)
|
|
|
NM_020745.4(AARS2):c.1752+8_1752+9del
|
rs764521639
|
|
NM_020745.4(AARS2):c.1866+12C>T
|
rs1057521008
|
|
NM_020745.4(AARS2):c.2051_2052del (p.Val684fs)
|
rs1167314179
|
|
NM_020745.4(AARS2):c.2133C>A (p.Arg711=)
|
rs1391642356
|
|
NM_020745.4(AARS2):c.2255+35C>A
|
rs325002
|
|
NM_020745.4(AARS2):c.2329C>T (p.Arg777Cys)
|
|
|
NM_020745.4(AARS2):c.2345C>T (p.Thr782Ile)
|
rs1085307969
|
|
NM_020745.4(AARS2):c.234C>A (p.Gly78=)
|
rs752238227
|
|
NM_020745.4(AARS2):c.2368C>G (p.Arg790Gly)
|
rs1480490090
|
|
NM_020745.4(AARS2):c.2542G>A (p.Val848Met)
|
rs2153353779
|
|
NM_020745.4(AARS2):c.2598+10G>T
|
rs748931933
|
|
NM_020745.4(AARS2):c.2598+130_2598+132del
|
rs3831223
|
|
NM_020745.4(AARS2):c.2598+9_2598+11del
|
rs773017457
|
|
NM_020745.4(AARS2):c.25G>A (p.Ala9Thr)
|
rs537231845
|
|
NM_020745.4(AARS2):c.25G>T (p.Ala9Ser)
|
rs537231845
|
|
NM_020745.4(AARS2):c.2681C>A (p.Ser894Ter)
|
rs200781477
|
|
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs)
|
rs780343109
|
|
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA
|
rs10627820
|
|
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)
|
rs562829310
|
|
NM_020745.4(AARS2):c.424G>A (p.Glu142Lys)
|
rs1554149186
|
|
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro)
|
rs2153357304
|
|
NM_020745.4(AARS2):c.572T>G (p.Leu191Arg)
|
|
|
NM_020745.4(AARS2):c.647dup (p.Cys218fs)
|
rs587777589
|
|
NM_020745.4(AARS2):c.750-7T>C
|
rs1057522139
|
|
NM_020745.4(AARS2):c.750-81del
|
rs540341777
|
|
NM_020745.4(AARS2):c.755C>G (p.Ala252Gly)
|
rs748309472
|
|
NM_020745.4(AARS2):c.781del (p.Gln261fs)
|
rs1554148927
|
|
NM_020745.4(AARS2):c.895-64C>A
|
rs41282670
|
|