NM_020745.4(AARS2):c.1150-182C>T
|
rs161706
|
0.89585
|
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val)
|
rs324136
|
0.89518
|
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.*1359A>G
|
rs534416
|
0.87948
|
NM_020745.4(AARS2):c.2871A>G (p.Ser957=)
|
rs325008
|
0.87930
|
NM_020745.4(AARS2):c.*341G>A
|
rs4714775
|
0.87863
|
NM_020745.4(AARS2):c.*366T>C
|
rs325010
|
0.87836
|
NM_020745.4(AARS2):c.2683-20A>G
|
rs325007
|
0.87773
|
NM_020745.4(AARS2):c.*423G>A
|
rs325011
|
0.87741
|
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.*1300C>T
|
rs1123523
|
0.18616
|
NM_020745.4(AARS2):c.*1576A>G
|
rs1056092
|
0.17434
|
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.*343G>A
|
rs149050034
|
0.01086
|
NM_020745.4(AARS2):c.*1719T>C
|
rs79454687
|
0.01085
|
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.*926C>T
|
rs76458008
|
0.00663
|
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.*718C>A
|
rs140359685
|
0.00491
|
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.*1007A>G
|
rs538721769
|
0.00229
|
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.*394C>A
|
rs545769603
|
0.00183
|
NM_020745.4(AARS2):c.*997G>T
|
rs146753959
|
0.00181
|
NM_020745.4(AARS2):c.*982G>A
|
rs192274662
|
0.00158
|
NM_020745.4(AARS2):c.*448G>T
|
rs565803591
|
0.00157
|
NM_020745.4(AARS2):c.*256A>G
|
rs182434401
|
0.00144
|
NM_020745.4(AARS2):c.-1G>C
|
rs369453852
|
0.00127
|
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr)
|
rs150039184
|
0.00123
|
NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys)
|
rs142094090
|
0.00087
|
NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala)
|
rs79962181
|
0.00087
|
NM_001318876.2(POLR1C):c.946-128526G>A
|
rs138333586
|
0.00085
|
NM_020745.4(AARS2):c.*627G>A
|
rs539810987
|
0.00085
|
NM_020745.4(AARS2):c.1173A>G (p.Gln391=)
|
rs150184415
|
0.00081
|
NM_020745.4(AARS2):c.960G>A (p.Ala320=)
|
rs775818472
|
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.2164C>T (p.Arg722Trp)
|
rs145436818
|
0.00070
|
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.533C>T (p.Ala178Val)
|
rs200343365
|
0.00043
|
NM_020745.4(AARS2):c.1569C>T (p.Ser523=)
|
rs374173311
|
0.00042
|
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.1300+9G>T
|
rs372864557
|
0.00025
|
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.2683-10C>T
|
rs372088350
|
0.00021
|
NM_020745.4(AARS2):c.*1811C>T
|
rs546498237
|
0.00019
|
NM_020745.4(AARS2):c.*408G>C
|
rs780339845
|
0.00019
|
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val)
|
rs143271585
|
0.00019
|
NM_020745.4(AARS2):c.2131C>T (p.Arg711Cys)
|
rs758466937
|
0.00019
|
NM_020745.4(AARS2):c.2729C>G (p.Thr910Arg)
|
rs148429504
|
0.00019
|
NM_020745.4(AARS2):c.*1473del
|
rs766302064
|
0.00016
|
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr)
|
rs146765163
|
0.00016
|
NM_020745.4(AARS2):c.*1293A>G
|
rs1054092802
|
0.00015
|
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.2365-16T>C
|
rs367739956
|
0.00014
|
NM_020745.4(AARS2):c.2551C>G (p.Leu851Val)
|
rs376103315
|
0.00014
|
NM_020745.4(AARS2):c.2892C>T (p.Thr964=)
|
rs371151506
|
0.00014
|
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln)
|
rs139974034
|
0.00014
|
NM_020745.4(AARS2):c.*753C>G
|
rs751745102
|
0.00013
|
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.1076G>A (p.Arg359His)
|
rs200485499
|
0.00011
|
NM_020745.4(AARS2):c.1579+8C>A
|
rs367985989
|
0.00011
|
NM_020745.4(AARS2):c.1867-6T>G
|
rs370783971
|
0.00011
|
NM_020745.4(AARS2):c.*1706C>T
|
rs767571924
|
0.00009
|
NM_020745.4(AARS2):c.1250G>A (p.Arg417Gln)
|
rs200188616
|
0.00009
|
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.679G>A (p.Asp227Asn)
|
rs765016818
|
0.00009
|
NM_020745.4(AARS2):c.824C>T (p.Ala275Val)
|
rs753386864
|
0.00009
|
NM_020745.4(AARS2):c.940G>A (p.Glu314Lys)
|
rs546851135
|
0.00009
|
NM_020745.4(AARS2):c.*1310T>C
|
rs553722790
|
0.00008
|
NM_020745.4(AARS2):c.82C>G (p.Arg28Gly)
|
rs758360552
|
0.00008
|
NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys)
|
rs753324375
|
0.00007
|
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.761G>C (p.Gly254Ala)
|
rs199919912
|
0.00007
|
NM_020745.4(AARS2):c.*1471C>T
|
rs996356800
|
0.00006
|
NM_020745.4(AARS2):c.1474T>C (p.Leu492=)
|
rs141076788
|
0.00006
|
NM_020745.4(AARS2):c.147C>T (p.Phe49=)
|
rs766876544
|
0.00006
|
NM_020745.4(AARS2):c.1533C>T (p.Asp511=)
|
rs372094957
|
0.00006
|
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.*1197C>T
|
rs1009499618
|
0.00005
|
NM_020745.4(AARS2):c.*752G>C
|
rs1027113180
|
0.00005
|
NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp)
|
rs749519355
|
0.00005
|
NM_020745.4(AARS2):c.1626C>T (p.Asp542=)
|
rs752676508
|
0.00005
|
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.1595A>G (p.Glu532Gly)
|
rs150729948
|
0.00004
|
NM_020745.4(AARS2):c.2220C>T (p.Ala740=)
|
rs147163018
|
0.00004
|
NM_020745.4(AARS2):c.2416C>T (p.Arg806Trp)
|
rs200653667
|
0.00004
|
NM_020745.4(AARS2):c.244-7C>T
|
rs200662122
|
0.00004
|
NM_020745.4(AARS2):c.2579G>A (p.Arg860His)
|
rs775755633
|
0.00004
|
NM_020745.4(AARS2):c.2702G>A (p.Arg901Gln)
|
rs768583871
|
0.00004
|
NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg)
|
rs543267101
|
0.00004
|
NM_020745.4(AARS2):c.302G>A (p.Arg101His)
|
rs545566267
|
0.00004
|
NM_020745.4(AARS2):c.60C>T (p.Pro20=)
|
rs781361302
|
0.00004
|
NM_020745.4(AARS2):c.*317G>A
|
rs1468335658
|
0.00003
|
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.1191C>T (p.Ile397=)
|
rs745806197
|
0.00003
|
NM_020745.4(AARS2):c.1434+7G>A
|
rs953512104
|
0.00003
|
NM_020745.4(AARS2):c.1435-14T>C
|
rs376986027
|
0.00003
|
NM_020745.4(AARS2):c.1926G>A (p.Leu642=)
|
rs766170481
|
0.00003
|
NM_020745.4(AARS2):c.2132G>A (p.Arg711His)
|
rs752743037
|
0.00003
|
NM_020745.4(AARS2):c.2165G>A (p.Arg722Gln)
|
rs566667883
|
0.00003
|
NM_020745.4(AARS2):c.221T>A (p.Phe74Tyr)
|
rs757169781
|
0.00003
|
NM_020745.4(AARS2):c.2283G>T (p.Gly761=)
|
rs761550766
|
0.00003
|
NM_020745.4(AARS2):c.22G>T (p.Ala8Ser)
|
rs886061491
|
0.00003
|
NM_020745.4(AARS2):c.2417G>A (p.Arg806Gln)
|
rs148172134
|
0.00003
|
NM_020745.4(AARS2):c.2561G>A (p.Arg854His)
|
rs751611980
|
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.436-4G>T
|
rs750609705
|
0.00003
|
NM_020745.4(AARS2):c.872C>T (p.Pro291Leu)
|
rs199985183
|
0.00003
|
NM_020745.4(AARS2):c.967G>A (p.Val323Met)
|
rs770774995
|
0.00003
|
NM_020745.4(AARS2):c.*51T>C
|
rs765200517
|
0.00002
|
NM_020745.4(AARS2):c.1310C>A (p.Ala437Asp)
|
rs777835089
|
0.00002
|
NM_020745.4(AARS2):c.1873C>T (p.Arg625Cys)
|
rs756662327
|
0.00002
|
NM_020745.4(AARS2):c.1890G>A (p.Ala630=)
|
rs757968286
|
0.00002
|
NM_020745.4(AARS2):c.2146-14C>T
|
rs752755816
|
0.00002
|
NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr)
|
rs536579476
|
0.00002
|
NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser)
|
rs200410313
|
0.00002
|
NM_020745.4(AARS2):c.2445G>A (p.Ala815=)
|
rs540249556
|
0.00002
|
NM_020745.4(AARS2):c.2668G>A (p.Ala890Thr)
|
rs752797271
|
0.00002
|
NM_020745.4(AARS2):c.670A>C (p.Ile224Leu)
|
rs772630843
|
0.00002
|
NM_020745.4(AARS2):c.915C>T (p.Tyr305=)
|
rs778966995
|
0.00002
|
NM_020745.4(AARS2):c.966C>T (p.Arg322=)
|
rs774493482
|
0.00002
|
NM_020745.4(AARS2):c.*1485G>A
|
rs886061481
|
0.00001
|
NM_020745.4(AARS2):c.*262T>C
|
rs886061484
|
0.00001
|
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.1064G>A (p.Arg355His)
|
rs768992661
|
0.00001
|
NM_020745.4(AARS2):c.1189-11G>C
|
rs1346509852
|
0.00001
|
NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys)
|
rs587777592
|
0.00001
|
NM_020745.4(AARS2):c.1244G>A (p.Gly415Asp)
|
rs151044424
|
0.00001
|
NM_020745.4(AARS2):c.132C>T (p.Ala44=)
|
rs756852994
|
0.00001
|
NM_020745.4(AARS2):c.1411C>T (p.Arg471Trp)
|
rs766085905
|
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.1561C>T (p.Arg521Ter)
|
rs587777591
|
0.00001
|
NM_020745.4(AARS2):c.1584C>T (p.Phe528=)
|
rs781363059
|
0.00001
|
NM_020745.4(AARS2):c.1644C>A (p.Ser548=)
|
rs377764395
|
0.00001
|
NM_020745.4(AARS2):c.1764C>T (p.Phe588=)
|
rs200425170
|
0.00001
|
NM_020745.4(AARS2):c.1788T>C (p.Cys596=)
|
rs201849519
|
0.00001
|
NM_020745.4(AARS2):c.1831C>T (p.Arg611Trp)
|
rs370481312
|
0.00001
|
NM_020745.4(AARS2):c.1867-13A>C
|
rs747012040
|
0.00001
|
NM_020745.4(AARS2):c.1871G>A (p.Trp624Ter)
|
rs749701451
|
0.00001
|
NM_020745.4(AARS2):c.1874G>A (p.Arg625His)
|
rs898375030
|
0.00001
|
NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys)
|
rs781702000
|
0.00001
|
NM_020745.4(AARS2):c.2032C>T (p.Arg678Trp)
|
rs751523537
|
0.00001
|
NM_020745.4(AARS2):c.2146-11C>T
|
rs886061487
|
0.00001
|
NM_020745.4(AARS2):c.2146-2A>G
|
rs368934219
|
0.00001
|
NM_020745.4(AARS2):c.2207C>T (p.Pro736Leu)
|
rs863223861
|
0.00001
|
NM_020745.4(AARS2):c.2219C>T (p.Ala740Val)
|
rs753952552
|
0.00001
|
NM_020745.4(AARS2):c.2255+1G>A
|
rs1186074948
|
0.00001
|
NM_020745.4(AARS2):c.2255+7C>T
|
rs1057524079
|
0.00001
|
NM_020745.4(AARS2):c.2270C>T (p.Thr757Ile)
|
rs371852804
|
0.00001
|
NM_020745.4(AARS2):c.2353C>G (p.Gln785Glu)
|
rs863223859
|
0.00001
|
NM_020745.4(AARS2):c.2369G>A (p.Arg790Gln)
|
rs1327430475
|
0.00001
|
NM_020745.4(AARS2):c.2392C>T (p.Gln798Ter)
|
rs751187394
|
0.00001
|
NM_020745.4(AARS2):c.2406G>A (p.Ala802=)
|
rs762616214
|
0.00001
|
NM_020745.4(AARS2):c.2488-16C>T
|
rs764253221
|
0.00001
|
NM_020745.4(AARS2):c.2488-19G>A
|
rs548669358
|
0.00001
|
NM_020745.4(AARS2):c.2524C>T (p.Arg842Trp)
|
rs778582339
|
0.00001
|
NM_020745.4(AARS2):c.2525G>A (p.Arg842Gln)
|
rs199677657
|
0.00001
|
NM_020745.4(AARS2):c.2598+1G>T
|
rs768351915
|
0.00001
|
NM_020745.4(AARS2):c.2671G>A (p.Glu891Lys)
|
rs779053083
|
0.00001
|
NM_020745.4(AARS2):c.267C>T (p.Thr89=)
|
rs752629942
|
0.00001
|
NM_020745.4(AARS2):c.2683-1G>T
|
rs374185049
|
0.00001
|
NM_020745.4(AARS2):c.268G>C (p.Val90Leu)
|
rs863223860
|
0.00001
|
NM_020745.4(AARS2):c.277C>T (p.Arg93Ter)
|
rs760920084
|
0.00001
|
NM_020745.4(AARS2):c.2860G>A (p.Ala954Thr)
|
rs771293152
|
0.00001
|
NM_020745.4(AARS2):c.2952G>C (p.Gln984His)
|
rs760967545
|
0.00001
|
NM_020745.4(AARS2):c.298C>T (p.Arg100Ter)
|
rs771082902
|
0.00001
|
NM_020745.4(AARS2):c.368G>T (p.Arg123Leu)
|
rs745761471
|
0.00001
|
NM_020745.4(AARS2):c.426A>G (p.Glu142=)
|
rs779650766
|
0.00001
|
NM_020745.4(AARS2):c.446G>A (p.Cys149Tyr)
|
rs1296069449
|
0.00001
|
NM_020745.4(AARS2):c.464T>G (p.Leu155Arg)
|
rs387907061
|
0.00001
|
NM_020745.4(AARS2):c.639G>A (p.Gly213=)
|
rs751373717
|
0.00001
|
NM_020745.4(AARS2):c.77G>A (p.Ser26Asn)
|
rs747099630
|
0.00001
|
NM_020745.4(AARS2):c.923G>A (p.Arg308Gln)
|
rs368473952
|
0.00001
|
NM_020745.4(AARS2):c.946C>T (p.Arg316Cys)
|
rs765720580
|
0.00001
|
NM_020745.4(AARS2):c.959C>T (p.Ala320Val)
|
rs201471937
|
0.00001
|
NM_020745.4(AARS2):c.964C>T (p.Arg322Cys)
|
rs767748655
|
0.00001
|
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)
|
rs200187887
|
0.00001
|
NM_020745.4(AARS2):c.*1045G>A
|
rs527281365
|
|
NM_020745.4(AARS2):c.*1112dup
|
rs112521684
|
|
NM_020745.4(AARS2):c.*1252A>C
|
rs886061482
|
|
NM_020745.4(AARS2):c.*1284_*1287del
|
rs201274623
|
|
NM_020745.4(AARS2):c.*1284del
|
rs35562884
|
|
NM_020745.4(AARS2):c.*1326A>G
|
rs370057942
|
|
NM_020745.4(AARS2):c.*1473G>T
|
rs116579451
|
|
NM_020745.4(AARS2):c.*1536G>C
|
rs548185310
|
|
NM_020745.4(AARS2):c.*1549C>T
|
rs886061480
|
|
NM_020745.4(AARS2):c.*155C>T
|
rs1785260425
|
|
NM_020745.4(AARS2):c.*1603C>G
|
rs886061479
|
|
NM_020745.4(AARS2):c.*1635_*1636insAA
|
rs34687863
|
|
NM_020745.4(AARS2):c.*1710G>T
|
rs1056093
|
|
NM_020745.4(AARS2):c.*1720C>T
|
rs140886261
|
|
NM_020745.4(AARS2):c.*279G>A
|
rs886061483
|
|
NM_020745.4(AARS2):c.*555_*556insATAAA
|
rs111990690
|
|
NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT
|
rs112092257
|
|
NM_020745.4(AARS2):c.*683C>G
|
rs764440099
|
|
NM_020745.4(AARS2):c.1028T>C (p.Met343Thr)
|
|
|
NM_020745.4(AARS2):c.1036C>A (p.Pro346Thr)
|
|
|
NM_020745.4(AARS2):c.1037C>T (p.Pro346Leu)
|
|
|
NM_020745.4(AARS2):c.1040+10G>C
|
rs2153355392
|
|
NM_020745.4(AARS2):c.1040+1G>A
|
rs1561941287
|
|
NM_020745.4(AARS2):c.1041-23G>C
|
rs111839169
|
|
NM_020745.4(AARS2):c.1041-29A>G
|
rs7740535
|
|
NM_020745.4(AARS2):c.1041G>A (p.Pro347=)
|
rs1258430421
|
|
NM_020745.4(AARS2):c.1042C>T (p.Leu348=)
|
|
|
NM_020745.4(AARS2):c.1049T>C (p.Leu350Pro)
|
rs1785916519
|
|
NM_020745.4(AARS2):c.1067G>A (p.Arg356Gln)
|
|
|
NM_020745.4(AARS2):c.106G>A (p.Ala36Thr)
|
rs1786528830
|
|
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe)
|
rs2153355304
|
|
NM_020745.4(AARS2):c.109G>A (p.Ala37Thr)
|
rs1786528628
|
|
NM_020745.4(AARS2):c.1102C>A (p.Pro368Thr)
|
|
|
NM_020745.4(AARS2):c.1132G>A (p.Val378Ile)
|
|
|
NM_020745.4(AARS2):c.1135G>A (p.Val379Met)
|
|
|
NM_020745.4(AARS2):c.1149+8C>T
|
|
|
NM_020745.4(AARS2):c.1150-18C>T
|
|
|
NM_020745.4(AARS2):c.115dup (p.Ala39fs)
|
rs971969514
|
|
NM_020745.4(AARS2):c.1183G>C (p.Ala395Pro)
|
|
|
NM_020745.4(AARS2):c.1188+16G>A
|
|
|
NM_020745.4(AARS2):c.1189-16_1189-14del
|
rs144914586
|
|
NM_020745.4(AARS2):c.1199T>C (p.Leu400Pro)
|
|
|
NM_020745.4(AARS2):c.119C>G (p.Ser40Trp)
|
|
|
NM_020745.4(AARS2):c.119C>T (p.Ser40Leu)
|
rs778971317
|
|
NM_020745.4(AARS2):c.120G>A (p.Ser40=)
|
|
|
NM_020745.4(AARS2):c.1210_1221dup (p.Ala407_Phe408insAspGluAlaAla)
|
rs2153355103
|
|
NM_020745.4(AARS2):c.1236G>A (p.Leu412=)
|
rs754383916
|
|
NM_020745.4(AARS2):c.1249C>A (p.Arg417=)
|
|
|
NM_020745.4(AARS2):c.1249C>T (p.Arg417Trp)
|
|
|
NM_020745.4(AARS2):c.1257T>C (p.Ile419=)
|
rs1583055571
|
|
NM_020745.4(AARS2):c.1261C>T (p.Arg421Trp)
|
|
|
NM_020745.4(AARS2):c.1262G>A (p.Arg421Gln)
|
|
|
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.1289A>G (p.Asp430Gly)
|
|
|
NM_020745.4(AARS2):c.1301-13T>G
|
rs1057523445
|
|
NM_020745.4(AARS2):c.1316C>T (p.Ser439Phe)
|
|
|
NM_020745.4(AARS2):c.1317C>T (p.Ser439=)
|
|
|
NM_020745.4(AARS2):c.1329T>A (p.Cys443Ter)
|
|
|
NM_020745.4(AARS2):c.1350G>A (p.Leu450=)
|
|
|
NM_020745.4(AARS2):c.1366A>G (p.Met456Val)
|
|
|
NM_020745.4(AARS2):c.1379A>G (p.Lys460Arg)
|
|
|
NM_020745.4(AARS2):c.1387C>T (p.Gln463Ter)
|
rs1561940254
|
|
NM_020745.4(AARS2):c.1408G>C (p.Glu470Gln)
|
rs863223863
|
|
NM_020745.4(AARS2):c.1430C>T (p.Ala477Val)
|
|
|
NM_020745.4(AARS2):c.1434+14C>T
|
|
|
NM_020745.4(AARS2):c.1435C>T (p.His479Tyr)
|
|
|
NM_020745.4(AARS2):c.1438C>T (p.Arg480Trp)
|
|
|
NM_020745.4(AARS2):c.1440G>A (p.Arg480=)
|
|
|
NM_020745.4(AARS2):c.1486G>A (p.Val496Ile)
|
|
|
NM_020745.4(AARS2):c.1491T>C (p.His497=)
|
|
|
NM_020745.4(AARS2):c.1492G>A (p.Ala498Thr)
|
|
|
NM_020745.4(AARS2):c.1496T>G (p.Leu499Arg)
|
rs2153354700
|
|
NM_020745.4(AARS2):c.149T>G (p.Phe50Cys)
|
rs587777590
|
|
NM_020745.4(AARS2):c.1506G>A (p.Leu502=)
|
rs2153354698
|
|
NM_020745.4(AARS2):c.1511G>A (p.Arg504His)
|
|
|
NM_020745.4(AARS2):c.1511G>T (p.Arg504Leu)
|
|
|
NM_020745.4(AARS2):c.1542C>G (p.Pro514=)
|
|
|
NM_020745.4(AARS2):c.1564C>T (p.Pro522Ser)
|
rs943891187
|
|
NM_020745.4(AARS2):c.1565C>G (p.Pro522Arg)
|
|
|
NM_020745.4(AARS2):c.1570G>A (p.Gly524Arg)
|
|
|
NM_020745.4(AARS2):c.1578T>C (p.Tyr526=)
|
|
|
NM_020745.4(AARS2):c.1587C>T (p.Gly529=)
|
|
|
NM_020745.4(AARS2):c.1627G>C (p.Gly543Arg)
|
|
|
NM_020745.4(AARS2):c.1632A>G (p.Thr544=)
|
rs2153354539
|
|
NM_020745.4(AARS2):c.1634C>T (p.Ala545Val)
|
|
|
NM_020745.4(AARS2):c.1644C>T (p.Ser548=)
|
rs377764395
|
|
NM_020745.4(AARS2):c.1645G>A (p.Val549Met)
|
|
|
NM_020745.4(AARS2):c.1662C>T (p.Arg554=)
|
rs912274637
|
|
NM_020745.4(AARS2):c.1681A>C (p.Arg561=)
|
rs958387642
|
|
NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr)
|
rs886061488
|
|
NM_020745.4(AARS2):c.1687A>T (p.Asn563Tyr)
|
rs2153354521
|
|
NM_020745.4(AARS2):c.1695C>G (p.Tyr565Ter)
|
|
|
NM_020745.4(AARS2):c.1696G>A (p.Ala566Thr)
|
|
|
NM_020745.4(AARS2):c.1699G>A (p.Glu567Lys)
|
|
|
NM_020745.4(AARS2):c.1703_1704del (p.Gln568fs)
|
|
|
NM_020745.4(AARS2):c.1705G>C (p.Gly569Arg)
|
|
|
NM_020745.4(AARS2):c.170G>A (p.Arg57Gln)
|
|
|
NM_020745.4(AARS2):c.1710C>G (p.Gly570=)
|
rs2153354504
|
|
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.1753-3C>T
|
|
|
NM_020745.4(AARS2):c.1753-6C>T
|
|
|
NM_020745.4(AARS2):c.1771G>A (p.Ala591Thr)
|
|
|
NM_020745.4(AARS2):c.1809G>C (p.Glu603Asp)
|
|
|
NM_020745.4(AARS2):c.1819C>T (p.Pro607Ser)
|
|
|
NM_020745.4(AARS2):c.1844A>C (p.Gln615Pro)
|
|
|
NM_020745.4(AARS2):c.1848G>A (p.Val616=)
|
rs957556458
|
|
NM_020745.4(AARS2):c.1866+12C>T
|
rs1057521008
|
|
NM_020745.4(AARS2):c.1867-11A>C
|
|
|
NM_020745.4(AARS2):c.1895A>G (p.His632Arg)
|
rs1554148040
|
|
NM_020745.4(AARS2):c.1904C>A (p.Thr635Asn)
|
|
|
NM_020745.4(AARS2):c.1936C>T (p.Leu646=)
|
|
|
NM_020745.4(AARS2):c.193C>T (p.Arg65Trp)
|
|
|
NM_020745.4(AARS2):c.1975C>A (p.Pro659Thr)
|
|
|
NM_020745.4(AARS2):c.1988G>A (p.Arg663His)
|
|
|
NM_020745.4(AARS2):c.19G>C (p.Ala7Pro)
|
rs750230257
|
|
NM_020745.4(AARS2):c.2007+1G>C
|
rs2153354335
|
|
NM_020745.4(AARS2):c.2007+9G>A
|
|
|
NM_020745.4(AARS2):c.2008-7C>A
|
rs372126423
|
|
NM_020745.4(AARS2):c.2008-7C>G
|
|
|
NM_020745.4(AARS2):c.2008-9C>A
|
|
|
NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro)
|
rs1561938413
|
|
NM_020745.4(AARS2):c.2051_2052del (p.Val684fs)
|
rs1167314179
|
|
NM_020745.4(AARS2):c.2058G>A (p.Glu686=)
|
|
|
NM_020745.4(AARS2):c.2062G>A (p.Val688Met)
|
|
|
NM_020745.4(AARS2):c.2086A>T (p.Met696Leu)
|
rs955369277
|
|
NM_020745.4(AARS2):c.2108T>C (p.Leu703Pro)
|
|
|
NM_020745.4(AARS2):c.2127C>G (p.Gly709=)
|
|
|
NM_020745.4(AARS2):c.2133C>A (p.Arg711=)
|
rs1391642356
|
|
NM_020745.4(AARS2):c.2136T>C (p.Ser712=)
|
|
|
NM_020745.4(AARS2):c.2137C>T (p.Leu713=)
|
|
|
NM_020745.4(AARS2):c.2168T>C (p.Val723Ala)
|
|
|
NM_020745.4(AARS2):c.217C>G (p.Leu73Val)
|
|
|
NM_020745.4(AARS2):c.2187C>T (p.Pro729=)
|
|
|
NM_020745.4(AARS2):c.2195A>G (p.His732Arg)
|
|
|
NM_020745.4(AARS2):c.2200T>C (p.Leu734=)
|
|
|
NM_020745.4(AARS2):c.2202G>A (p.Leu734=)
|
rs886061486
|
|
NM_020745.4(AARS2):c.2210C>G (p.Ala737Gly)
|
|
|
NM_020745.4(AARS2):c.2223A>G (p.Ala741=)
|
rs2153354052
|
|
NM_020745.4(AARS2):c.222T>C (p.Phe74=)
|
rs1583062512
|
|
NM_020745.4(AARS2):c.2255+12C>T
|
|
|
NM_020745.4(AARS2):c.2255+35C>A
|
rs325002
|
|
NM_020745.4(AARS2):c.2255+5G>A
|
|
|
NM_020745.4(AARS2):c.2255C>T (p.Thr752Met)
|
|
|
NM_020745.4(AARS2):c.2256-2A>G
|
rs2153353988
|
|
NM_020745.4(AARS2):c.2267G>A (p.Arg756His)
|
|
|
NM_020745.4(AARS2):c.227A>G (p.Asn76Ser)
|
|
|
NM_020745.4(AARS2):c.2299G>A (p.Gly767Arg)
|
|
|
NM_020745.4(AARS2):c.2306G>A (p.Arg769His)
|
|
|
NM_020745.4(AARS2):c.2308C>T (p.Gln770Ter)
|
|
|
NM_020745.4(AARS2):c.2322C>T (p.Gly774=)
|
|
|
NM_020745.4(AARS2):c.2329C>T (p.Arg777Cys)
|
|
|
NM_020745.4(AARS2):c.233del (p.Gly78fs)
|
|
|
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.2356G>A (p.Ala786Thr)
|
rs1554147776
|
|
NM_020745.4(AARS2):c.2362C>G (p.Gln788Glu)
|
|
|
NM_020745.4(AARS2):c.2364+19C>G
|
|
|
NM_020745.4(AARS2):c.2365-10C>T
|
|
|
NM_020745.4(AARS2):c.2365-11C>A
|
|
|
NM_020745.4(AARS2):c.2368C>G (p.Arg790Gly)
|
rs1480490090
|
|
NM_020745.4(AARS2):c.2393del (p.Gln798fs)
|
|
|
NM_020745.4(AARS2):c.2397A>G (p.Glu799=)
|
|
|
NM_020745.4(AARS2):c.2435G>A (p.Arg812Gln)
|
|
|
NM_020745.4(AARS2):c.244-13T>C
|
|
|
NM_020745.4(AARS2):c.2444C>T (p.Ala815Val)
|
|
|
NM_020745.4(AARS2):c.2476C>T (p.Arg826Ter)
|
|
|
NM_020745.4(AARS2):c.2483T>C (p.Ile828Thr)
|
|
|
NM_020745.4(AARS2):c.2487+1G>C
|
rs2153353848
|
|
NM_020745.4(AARS2):c.2522G>A (p.Arg841Gln)
|
|
|
NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro)
|
rs1170907347
|
|
NM_020745.4(AARS2):c.2542G>A (p.Val848Met)
|
rs2153353779
|
|
NM_020745.4(AARS2):c.2556G>A (p.Gln852=)
|
|
|
NM_020745.4(AARS2):c.2577C>T (p.Ile859=)
|
|
|
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+3G>A
|
|
|
NM_020745.4(AARS2):c.2598+9_2598+11del
|
rs773017457
|
|
NM_020745.4(AARS2):c.2599-1G>A
|
rs1785349774
|
|
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.2607del (p.Thr871fs)
|
|
|
NM_020745.4(AARS2):c.2611dup (p.Thr871fs)
|
rs749666514
|
|
NM_020745.4(AARS2):c.2622G>A (p.Leu874=)
|
|
|
NM_020745.4(AARS2):c.262G>A (p.Gly88Ser)
|
rs2153357655
|
|
NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp)
|
rs770826503
|
|
NM_020745.4(AARS2):c.2636C>T (p.Ser879Leu)
|
|
|
NM_020745.4(AARS2):c.2643G>T (p.Gly881=)
|
|
|
NM_020745.4(AARS2):c.2654T>C (p.Val885Ala)
|
rs1002993835
|
|
NM_020745.4(AARS2):c.2654T>G (p.Val885Gly)
|
|
|
NM_020745.4(AARS2):c.2658C>A (p.Asp886Glu)
|
rs758434921
|
|
NM_020745.4(AARS2):c.2681C>A (p.Ser894Ter)
|
rs200781477
|
|
NM_020745.4(AARS2):c.2682+10A>T
|
|
|
NM_020745.4(AARS2):c.2682+5G>A
|
|
|
NM_020745.4(AARS2):c.2683-21_2683-20inv
|
|
|
NM_020745.4(AARS2):c.2685G>C (p.Val895=)
|
|
|
NM_020745.4(AARS2):c.2701C>G (p.Arg901Gly)
|
rs145086947
|
|
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp)
|
rs145086947
|
|
NM_020745.4(AARS2):c.2718G>C (p.Gln906His)
|
|
|
NM_020745.4(AARS2):c.2722C>T (p.Pro908Ser)
|
rs202149382
|
|
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs)
|
rs780343109
|
|
NM_020745.4(AARS2):c.2729C>T (p.Thr910Met)
|
|
|
NM_020745.4(AARS2):c.2783A>G (p.Gln928Arg)
|
|
|
NM_020745.4(AARS2):c.2793+20A>G
|
|
|
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA
|
rs10627820
|
|
NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser)
|
rs886061485
|
|
NM_020745.4(AARS2):c.282C>T (p.Ser94=)
|
|
|
NM_020745.4(AARS2):c.2830C>T (p.Leu944=)
|
|
|
NM_020745.4(AARS2):c.2850G>T (p.Met950Ile)
|
rs1554147408
|
|
NM_020745.4(AARS2):c.2871_2872inv (p.Arg958Ter)
|
|
|
NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)
|
|
|
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter)
|
rs1785274253
|
|
NM_020745.4(AARS2):c.2908C>T (p.Leu970=)
|
|
|
NM_020745.4(AARS2):c.2937C>G (p.Thr979=)
|
rs200778121
|
|
NM_020745.4(AARS2):c.2T>C (p.Met1Thr)
|
|
|
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)
|
rs562829310
|
|
NM_020745.4(AARS2):c.321A>G (p.Lys107=)
|
|
|
NM_020745.4(AARS2):c.331G>C (p.Ala111Pro)
|
|
|
NM_020745.4(AARS2):c.344A>T (p.His115Leu)
|
rs757866075
|
|
NM_020745.4(AARS2):c.348C>T (p.Asn116=)
|
|
|
NM_020745.4(AARS2):c.352C>G (p.Leu118Val)
|
|
|
NM_020745.4(AARS2):c.358G>A (p.Asp120Asn)
|
|
|
NM_020745.4(AARS2):c.367C>T (p.Arg123Ter)
|
|
|
NM_020745.4(AARS2):c.384T>C (p.His128=)
|
|
|
NM_020745.4(AARS2):c.385A>C (p.Thr129Pro)
|
rs773257559
|
|
NM_020745.4(AARS2):c.387CTT[1] (p.Phe131del)
|
rs1561943859
|
|
NM_020745.4(AARS2):c.408T>C (p.Asn136=)
|
rs886061490
|
|
NM_020745.4(AARS2):c.424G>A (p.Glu142Lys)
|
rs1554149186
|
|
NM_020745.4(AARS2):c.436-2A>C
|
|
|
NM_020745.4(AARS2):c.455C>A (p.Ala152Asp)
|
|
|
NM_020745.4(AARS2):c.455C>G (p.Ala152Gly)
|
rs2153357333
|
|
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter)
|
rs1786349461
|
|
NM_020745.4(AARS2):c.466C>G (p.Leu156Val)
|
|
|
NM_020745.4(AARS2):c.46A>G (p.Ile16Val)
|
|
|
NM_020745.4(AARS2):c.472C>A (p.Gln158Lys)
|
rs759138272
|
|
NM_020745.4(AARS2):c.486C>A (p.Ile162=)
|
|
|
NM_020745.4(AARS2):c.4G>A (p.Ala2Thr)
|
|
|
NM_020745.4(AARS2):c.502T>C (p.Trp168Arg)
|
rs2153357315
|
|
NM_020745.4(AARS2):c.509C>T (p.Ser170Phe)
|
rs1367537494
|
|
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro)
|
rs2153357304
|
|
NM_020745.4(AARS2):c.547G>C (p.Asp183His)
|
|
|
NM_020745.4(AARS2):c.572T>G (p.Leu191Arg)
|
|
|
NM_020745.4(AARS2):c.57G>C (p.Ser19=)
|
rs1049916671
|
|
NM_020745.4(AARS2):c.582-16C>G
|
|
|
NM_020745.4(AARS2):c.582-17C>G
|
|
|
NM_020745.4(AARS2):c.582-6C>T
|
|
|
NM_020745.4(AARS2):c.604T>C (p.Ser202Pro)
|
|
|
NM_020745.4(AARS2):c.63A>C (p.Ala21=)
|
|
|
NM_020745.4(AARS2):c.647dup (p.Cys218fs)
|
rs587777589
|
|
NM_020745.4(AARS2):c.649C>T (p.Pro217Ser)
|
rs1786310363
|
|
NM_020745.4(AARS2):c.651T>C (p.Pro217=)
|
|
|
NM_020745.4(AARS2):c.671T>A (p.Ile224Asn)
|
rs1786308486
|
|
NM_020745.4(AARS2):c.682C>T (p.Leu228Phe)
|
|
|
NM_020745.4(AARS2):c.711G>A (p.Leu237=)
|
|
|
NM_020745.4(AARS2):c.726C>T (p.Asn242=)
|
rs1786303047
|
|
NM_020745.4(AARS2):c.739C>A (p.Gln247Lys)
|
|
|
NM_020745.4(AARS2):c.750-7T>C
|
rs1057522139
|
|
NM_020745.4(AARS2):c.750-81del
|
rs540341777
|
|
NM_020745.4(AARS2):c.750-9C>T
|
rs1786252044
|
|
NM_020745.4(AARS2):c.755C>G (p.Ala252Gly)
|
rs748309472
|
|
NM_020745.4(AARS2):c.781del (p.Gln261fs)
|
rs1554148927
|
|
NM_020745.4(AARS2):c.790G>A (p.Val264Met)
|
rs2153356902
|
|
NM_020745.4(AARS2):c.804G>A (p.Met268Ile)
|
|
|
NM_020745.4(AARS2):c.845C>G (p.Ser282Cys)
|
rs2153356880
|
|
NM_020745.4(AARS2):c.846C>G (p.Ser282=)
|
|
|
NM_020745.4(AARS2):c.85C>T (p.Pro29Ser)
|
|
|
NM_020745.4(AARS2):c.879C>T (p.Leu293=)
|
rs886061489
|
|
NM_020745.4(AARS2):c.87_88dup (p.Leu30fs)
|
rs780686559
|
|
NM_020745.4(AARS2):c.880A>G (p.Asn294Asp)
|
|
|
NM_020745.4(AARS2):c.881A>G (p.Asn294Ser)
|
|
|
NM_020745.4(AARS2):c.894+16_894+20del
|
|
|
NM_020745.4(AARS2):c.895-13_895-12inv
|
|
|
NM_020745.4(AARS2):c.895-64C>A
|
rs41282670
|
|
NM_020745.4(AARS2):c.907C>A (p.Pro303Thr)
|
|
|
NM_020745.4(AARS2):c.914_917del (p.Tyr305fs)
|
|
|
NM_020745.4(AARS2):c.922C>A (p.Arg308=)
|
rs770902982
|
|
NM_020745.4(AARS2):c.929G>T (p.Gly310Val)
|
|
|
NM_020745.4(AARS2):c.938A>G (p.Asp313Gly)
|
rs2153355456
|
|
NM_020745.4(AARS2):c.93A>T (p.Ser31=)
|
|
|
NM_020745.4(AARS2):c.941_943del (p.Glu314del)
|
|
|
NM_020745.4(AARS2):c.947G>A (p.Arg316His)
|
|
|
NM_020745.4(AARS2):c.965G>A (p.Arg322His)
|
|
|
NM_020745.4(AARS2):c.96G>T (p.Ser32=)
|
|
|
NM_020745.4(AARS2):c.984C>G (p.Ile328Met)
|
rs2153355427
|
|
NM_020745.4(AARS2):c.995G>A (p.Ser332Asn)
|
|
|