NM_002047.4(GARS1):c.570-151C>A
|
rs2709809
|
0.81338
|
NM_002047.4(GARS1):c.1031+77G>A
|
rs1986756
|
0.78867
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402
|
0.70073
|
NM_002047.4(GARS1):c.659-43C>A
|
rs1558064
|
0.49314
|
NM_002047.4(GARS1):c.1613+159G>A
|
rs10249885
|
0.48563
|
NM_002047.2(GARS1):c.-534T>C
|
rs2270025
|
0.48489
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401
|
0.48477
|
NM_002047.4(GARS1):c.1359+299A>G
|
rs6970807
|
0.48094
|
NC_000007.14:g.30634164A>G
|
rs2214837
|
0.48022
|
NM_002047.4(GARS1):c.1360-71A>C
|
rs10951271
|
0.36177
|
NM_002047.4(GARS1):c.428-320G>T
|
rs2709806
|
0.19520
|
NM_002047.4(GARS1):c.569+173T>C
|
rs10280491
|
0.12486
|
NM_002047.4(GARS1):c.1195-80G>A
|
rs78284531
|
0.11572
|
NM_002047.4(GARS1):c.223-120G>A
|
rs77213416
|
0.09798
|
NM_002047.4(GARS1):c.1699+285G>A
|
rs77121610
|
0.09754
|
NM_002047.4(GARS1):c.1032-23A>T
|
rs2527878
|
0.09645
|
NM_002047.4(GARS1):c.1468-285T>C
|
rs2527880
|
0.09612
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236
|
0.09556
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438
|
0.09548
|
NM_002047.4(GARS1):c.324+259T>G
|
rs722423
|
0.08267
|
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)
|
rs4593
|
0.08113
|
NM_002047.4(GARS1):c.427+176C>G
|
rs2074779
|
0.06711
|
NM_002047.4(GARS1):c.1031+229C>T
|
rs10229836
|
0.05002
|
NM_002047.4(GARS1):c.1613+96C>T
|
rs17159291
|
0.04921
|
NM_002047.4(GARS1):c.1467+330A>C
|
rs17159289
|
0.04918
|
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065
|
0.04917
|
NM_002047.4(GARS1):c.1833T>C (p.Val611=)
|
rs14270
|
0.04182
|
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)
|
rs11553502
|
0.04180
|
NM_002047.4(GARS1):c.223-304G>A
|
rs113551895
|
0.04104
|
NM_002047.4(GARS1):c.1032-149A>T
|
rs17159280
|
0.03786
|
NM_002047.2(GARS1):c.-205C>T
|
rs17159262
|
0.03007
|
NM_002047.2(GARS1):c.-217A>G
|
rs2970504
|
0.02929
|
NM_002047.4(GARS1):c.428-139G>A
|
rs2952804
|
0.02919
|
NM_002047.4(GARS1):c.1614-271A>G
|
rs118095447
|
0.02712
|
NM_002047.4(GARS1):c.1700-45T>C
|
rs118002895
|
0.02313
|
NM_002047.4(GARS1):c.881+290T>C
|
rs140249264
|
0.01756
|
NM_002047.4(GARS1):c.2094+277G>A
|
rs183763845
|
0.01755
|
NM_002047.4(GARS1):c.2094+276_2094+277insC
|
rs151154671
|
0.01754
|
NM_002047.4(GARS1):c.1194+212C>G
|
rs79036537
|
0.01732
|
NM_002047.2(GARS1):c.-317G>A
|
rs116125961
|
0.01714
|
NM_002047.4(GARS1):c.2094+129G>A
|
rs79295938
|
0.01693
|
NM_002047.4(GARS1):c.1360-335T>C
|
rs113343841
|
0.01602
|
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)
|
rs7808770
|
0.01578
|
NM_002047.4(GARS1):c.1761G>A (p.Thr587=)
|
rs3886641
|
0.01523
|
NM_002047.4(GARS1):c.1359+97A>G
|
rs2709772
|
0.01406
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_002047.4(GARS1):c.223-132G>A
|
rs117505203
|
0.01238
|
NC_000007.14:g.30634188C>T
|
rs117407393
|
0.01138
|
NM_002047.4(GARS1):c.223-166G>A
|
rs2240501
|
0.01088
|
NM_002047.4(GARS1):c.881+70T>C
|
rs114018913
|
0.01039
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287
|
0.00833
|
NM_002047.4(GARS1):c.881+240A>G
|
rs112431911
|
0.00714
|
NM_002047.4(GARS1):c.*73A>G
|
rs113598818
|
0.00687
|
NM_002047.2(GARS1):c.-225G>A
|
rs148593022
|
0.00641
|
NM_002047.4(GARS1):c.1467+113G>A
|
rs57305857
|
0.00598
|
NM_002047.4(GARS1):c.*67C>G
|
rs142498676
|
0.00506
|
NM_002047.4(GARS1):c.1810-107T>G
|
rs115985185
|
0.00438
|
NM_002047.4(GARS1):c.2190G>A (p.Glu730=)
|
rs190132116
|
0.00437
|
NC_000007.14:g.30594476T>C
|
rs145875816
|
0.00416
|
NM_002047.4(GARS1):c.1195-47T>C
|
rs145902909
|
0.00412
|
NM_002047.4(GARS1):c.1700-85G>A
|
rs575217668
|
0.00383
|
NM_002047.2(GARS1):c.-280G>A
|
rs73294431
|
0.00364
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_002047.2(GARS1):c.-85C>A
|
rs777045330
|
0.00243
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556
|
0.00213
|
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)
|
rs113958280
|
0.00210
|
NM_002047.4(GARS1):c.1810-199G>A
|
rs117100393
|
0.00163
|
NM_002047.4(GARS1):c.*145C>A
|
rs904772533
|
0.00152
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_002047.2(GARS1):c.-69T>A
|
rs527307703
|
0.00098
|
NM_002047.4(GARS1):c.1724T>C (p.Ile575Thr)
|
rs181912750
|
0.00071
|
NM_002047.4(GARS1):c.699C>T (p.Val233=)
|
rs187937286
|
0.00063
|
NM_002047.2(GARS1):c.-237A>C
|
rs540431164
|
0.00053
|
NM_002047.4(GARS1):c.428-17C>T
|
rs370452042
|
0.00040
|
NM_002047.4(GARS1):c.1032-15C>T
|
rs201868189
|
0.00037
|
NM_002047.4(GARS1):c.1904-18T>C
|
rs41275991
|
0.00036
|
NM_002047.4(GARS1):c.675G>A (p.Leu225=)
|
rs369203473
|
0.00033
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00029
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850
|
0.00024
|
NM_002047.4(GARS1):c.669G>A (p.Gln223=)
|
rs1051323034
|
0.00024
|
NM_002047.4(GARS1):c.51G>A (p.Leu17=)
|
rs202117737
|
0.00023
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429
|
0.00022
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
NM_002047.4(GARS1):c.1904-28T>G
|
rs375716806
|
0.00018
|
NM_002047.4(GARS1):c.1543G>A (p.Val515Met)
|
rs367589841
|
0.00015
|
NM_002047.2(GARS1):c.-80C>T
|
rs886062270
|
0.00014
|
NM_002047.4(GARS1):c.1743G>C (p.Leu581=)
|
rs370844461
|
0.00014
|
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)
|
rs746056671
|
0.00014
|
NM_002047.4(GARS1):c.428-13T>A
|
rs373782750
|
0.00013
|
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)
|
rs201358272
|
0.00011
|
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)
|
rs369466037
|
0.00011
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730
|
0.00010
|
NM_002047.4(GARS1):c.765G>A (p.Ala255=)
|
rs201447520
|
0.00010
|
NM_002047.4(GARS1):c.19G>T (p.Val7Leu)
|
rs201132307
|
0.00009
|
NM_002047.4(GARS1):c.270C>T (p.Asp90=)
|
rs369898799
|
0.00009
|
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys)
|
rs373326652
|
0.00009
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
NM_002047.4(GARS1):c.882-15T>G
|
rs199741850
|
0.00008
|
NM_002047.4(GARS1):c.1149C>T (p.Ser383=)
|
rs369389062
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002047.4(GARS1):c.-36C>T
|
rs531483802
|
0.00006
|
NM_002047.4(GARS1):c.100C>T (p.Arg34Trp)
|
rs928410877
|
0.00006
|
NM_002047.4(GARS1):c.1451A>C (p.Lys484Thr)
|
rs528223570
|
0.00006
|
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)
|
rs538571144
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_002047.4(GARS1):c.1857C>T (p.Leu619=)
|
rs183573304
|
0.00006
|
NM_002047.4(GARS1):c.2065C>G (p.Arg689Gly)
|
rs376308368
|
0.00006
|
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)
|
rs181251337
|
0.00006
|
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968
|
0.00006
|
NM_002047.2(GARS1):c.-45C>T
|
rs903029869
|
0.00005
|
NM_002047.4(GARS1):c.123C>A (p.Cys41Ter)
|
rs988893052
|
0.00005
|
NM_002047.4(GARS1):c.1663A>G (p.Met555Val)
|
rs1023871853
|
0.00005
|
NM_002047.4(GARS1):c.1904-19del
|
rs745958570
|
0.00005
|
NM_002047.4(GARS1):c.325-9C>G
|
rs770645408
|
0.00005
|
NM_002047.4(GARS1):c.333G>A (p.Ala111=)
|
rs762212188
|
0.00005
|
NM_002047.4(GARS1):c.816A>G (p.Leu272=)
|
rs777128525
|
0.00005
|
NM_002047.4(GARS1):c.-31C>A
|
rs549993976
|
0.00004
|
NM_002047.4(GARS1):c.1032-14G>A
|
rs766263055
|
0.00004
|
NM_002047.4(GARS1):c.1158C>T (p.Ser386=)
|
rs373576697
|
0.00004
|
NM_002047.4(GARS1):c.1219G>A (p.Gly407Ser)
|
rs370650205
|
0.00004
|
NM_002047.4(GARS1):c.1440T>C (p.Leu480=)
|
rs560809761
|
0.00004
|
NM_002047.4(GARS1):c.1534G>A (p.Ala512Thr)
|
rs750971084
|
0.00004
|
NM_002047.4(GARS1):c.155G>A (p.Arg52Gln)
|
rs755504496
|
0.00004
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
rs200726600
|
0.00004
|
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu)
|
rs764238525
|
0.00004
|
NM_002047.4(GARS1):c.1737C>T (p.Phe579=)
|
rs752464405
|
0.00004
|
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)
|
rs374378925
|
0.00004
|
NM_002047.4(GARS1):c.1779C>A (p.Phe593Leu)
|
rs372368483
|
0.00004
|
NM_002047.4(GARS1):c.1828G>A (p.Val610Ile)
|
rs201432170
|
0.00004
|
NM_002047.4(GARS1):c.1921C>T (p.His641Tyr)
|
rs191270471
|
0.00004
|
NM_002047.4(GARS1):c.1991T>C (p.Ile664Thr)
|
rs1064797334
|
0.00004
|
NM_002047.4(GARS1):c.264A>G (p.Gln88=)
|
rs776884508
|
0.00004
|
NM_002047.4(GARS1):c.282A>G (p.Ala94=)
|
rs571004464
|
0.00004
|
NM_002047.4(GARS1):c.324+3G>A
|
rs372776194
|
0.00004
|
NM_002047.4(GARS1):c.3G>T (p.Met1Ile)
|
rs781520666
|
0.00004
|
NM_002047.4(GARS1):c.44C>T (p.Ala15Val)
|
rs758037738
|
0.00004
|
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)
|
rs756664556
|
0.00004
|
NM_002047.4(GARS1):c.757G>A (p.Glu253Lys)
|
rs760051768
|
0.00004
|
NM_002047.4(GARS1):c.782A>G (p.Tyr261Cys)
|
rs780902152
|
0.00004
|
NM_002047.4(GARS1):c.787G>A (p.Val263Ile)
|
rs77518956
|
0.00004
|
NM_002047.4(GARS1):c.1341A>G (p.Ala447=)
|
rs765984852
|
0.00003
|
NM_002047.4(GARS1):c.144C>T (p.Ala48=)
|
rs754360926
|
0.00003
|
NM_002047.4(GARS1):c.163A>G (p.Met55Val)
|
rs900324585
|
0.00003
|
NM_002047.4(GARS1):c.1700-13A>G
|
rs762966640
|
0.00003
|
NM_002047.4(GARS1):c.174G>A (p.Ala58=)
|
rs747227947
|
0.00003
|
NM_002047.4(GARS1):c.1760C>T (p.Thr587Met)
|
rs750292154
|
0.00003
|
NM_002047.4(GARS1):c.1923T>C (p.His641=)
|
rs182542046
|
0.00003
|
NM_002047.4(GARS1):c.1929A>G (p.Val643=)
|
rs376451704
|
0.00003
|
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)
|
rs201728920
|
0.00003
|
NM_002047.4(GARS1):c.305A>G (p.Lys102Arg)
|
rs369224847
|
0.00003
|
NM_002047.4(GARS1):c.52C>A (p.Leu18Met)
|
rs368574634
|
0.00003
|
NM_002047.4(GARS1):c.69G>A (p.Arg23=)
|
rs762624758
|
0.00003
|
NM_002047.4(GARS1):c.866G>A (p.Gly289Glu)
|
rs1343637666
|
0.00003
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649
|
0.00003
|
NM_002047.4(GARS1):c.90C>T (p.Leu30=)
|
rs1057519166
|
0.00003
|
NM_002047.4(GARS1):c.-6A>G
|
rs747409671
|
0.00002
|
NM_002047.4(GARS1):c.108C>T (p.Leu36=)
|
rs1166263515
|
0.00002
|
NM_002047.4(GARS1):c.1108G>C (p.Asp370His)
|
rs769026859
|
0.00002
|
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr)
|
rs759499740
|
0.00002
|
NM_002047.4(GARS1):c.1138G>A (p.Ala380Thr)
|
rs772145843
|
0.00002
|
NM_002047.4(GARS1):c.1140C>G (p.Ala380=)
|
rs374980030
|
0.00002
|
NM_002047.4(GARS1):c.1159G>A (p.Ala387Thr)
|
rs776528885
|
0.00002
|
NM_002047.4(GARS1):c.128C>T (p.Pro43Leu)
|
rs570608946
|
0.00002
|
NM_002047.4(GARS1):c.12G>A (p.Pro4=)
|
rs775650014
|
0.00002
|
NM_002047.4(GARS1):c.1359C>T (p.Tyr453=)
|
rs901778260
|
0.00002
|
NM_002047.4(GARS1):c.1533T>C (p.Asp511=)
|
rs1388554818
|
0.00002
|
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys)
|
rs753947676
|
0.00002
|
NM_002047.4(GARS1):c.1581T>C (p.Ile527=)
|
rs960876782
|
0.00002
|
NM_002047.4(GARS1):c.1817G>A (p.Ser606Asn)
|
rs773316961
|
0.00002
|
NM_002047.4(GARS1):c.1903+19G>A
|
rs1051143976
|
0.00002
|
NM_002047.4(GARS1):c.196C>T (p.Pro66Ser)
|
rs776478280
|
0.00002
|
NM_002047.4(GARS1):c.271G>A (p.Val91Ile)
|
rs374616031
|
0.00002
|
NM_002047.4(GARS1):c.403G>T (p.Asp135Tyr)
|
rs778553007
|
0.00002
|
NM_002047.4(GARS1):c.534C>T (p.Ile178=)
|
rs774732829
|
0.00002
|
NM_002047.4(GARS1):c.582T>C (p.His194=)
|
rs753444153
|
0.00002
|
NM_002047.4(GARS1):c.637C>T (p.Arg213Cys)
|
rs769780656
|
0.00002
|
NM_002047.4(GARS1):c.786T>C (p.Asn262=)
|
rs886043231
|
0.00002
|
NM_002047.2(GARS1):c.-166T>G
|
rs1008764831
|
0.00001
|
NM_002047.4(GARS1):c.-14A>G
|
rs1404831052
|
0.00001
|
NM_002047.4(GARS1):c.-1C>A
|
rs1257498883
|
0.00001
|
NM_002047.4(GARS1):c.1000A>G (p.Ile334Val)
|
rs1554338260
|
0.00001
|
NM_002047.4(GARS1):c.101G>A (p.Arg34Gln)
|
rs1189675611
|
0.00001
|
NM_002047.4(GARS1):c.1031+9del
|
rs746178135
|
0.00001
|
NM_002047.4(GARS1):c.1042A>G (p.Met348Val)
|
rs368832379
|
0.00001
|
NM_002047.4(GARS1):c.1059C>G (p.His353Gln)
|
rs886062273
|
0.00001
|
NM_002047.4(GARS1):c.1059C>T (p.His353=)
|
rs886062273
|
0.00001
|
NM_002047.4(GARS1):c.1087C>G (p.Pro363Ala)
|
rs267601479
|
0.00001
|
NM_002047.4(GARS1):c.1107A>C (p.Ala369=)
|
rs1562777680
|
0.00001
|
NM_002047.4(GARS1):c.114G>T (p.Ala38=)
|
rs764791266
|
0.00001
|
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
|
rs779184435
|
0.00001
|
NM_002047.4(GARS1):c.1195-19T>C
|
rs377525562
|
0.00001
|
NM_002047.4(GARS1):c.1234C>T (p.Arg412Cys)
|
rs770924455
|
0.00001
|
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
|
rs746139865
|
0.00001
|
NM_002047.4(GARS1):c.1254G>A (p.Thr418=)
|
rs552538763
|
0.00001
|
NM_002047.4(GARS1):c.125C>T (p.Pro42Leu)
|
rs1316245045
|
0.00001
|
NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe)
|
rs774169230
|
0.00001
|
NM_002047.4(GARS1):c.129G>T (p.Pro43=)
|
rs1326074084
|
0.00001
|
NM_002047.4(GARS1):c.1359+1G>A
|
rs868796615
|
0.00001
|
NM_002047.4(GARS1):c.1399T>A (p.Tyr467Asn)
|
rs368388267
|
0.00001
|
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)
|
rs1287718221
|
0.00001
|
NM_002047.4(GARS1):c.1432G>A (p.Val478Ile)
|
rs1238026762
|
0.00001
|
NM_002047.4(GARS1):c.1454C>T (p.Pro485Leu)
|
rs1159290036
|
0.00001
|
NM_002047.4(GARS1):c.1487A>G (p.Gln496Arg)
|
rs1325522512
|
0.00001
|
NM_002047.4(GARS1):c.1511T>C (p.Ile504Thr)
|
rs762264480
|
0.00001
|
NM_002047.4(GARS1):c.1573T>C (p.Cys525Arg)
|
rs752812365
|
0.00001
|
NM_002047.4(GARS1):c.1612G>C (p.Gly538Arg)
|
rs1415135637
|
0.00001
|
NM_002047.4(GARS1):c.1613+7T>C
|
rs374795892
|
0.00001
|
NM_002047.4(GARS1):c.1624A>G (p.Ile542Val)
|
rs1060502837
|
0.00001
|
NM_002047.4(GARS1):c.162C>T (p.Ser54=)
|
rs758434035
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002047.4(GARS1):c.1700-17T>C
|
rs775676664
|
0.00001
|
NM_002047.4(GARS1):c.1729C>A (p.Pro577Thr)
|
rs754547488
|
0.00001
|
NM_002047.4(GARS1):c.1751T>A (p.Ile584Asn)
|
rs864622616
|
0.00001
|
NM_002047.4(GARS1):c.1755G>A (p.Met585Ile)
|
rs780441296
|
0.00001
|
NM_002047.4(GARS1):c.1782T>C (p.His594=)
|
rs762072215
|
0.00001
|
NM_002047.4(GARS1):c.1784T>C (p.Val595Ala)
|
rs373694973
|
0.00001
|
NM_002047.4(GARS1):c.1809+13G>A
|
rs1183436159
|
0.00001
|
NM_002047.4(GARS1):c.1809+16C>T
|
rs752229312
|
0.00001
|
NM_002047.4(GARS1):c.1829T>C (p.Val610Ala)
|
rs1554340666
|
0.00001
|
NM_002047.4(GARS1):c.1836T>G (p.Ala612=)
|
rs759595437
|
0.00001
|
NM_002047.4(GARS1):c.1854C>T (p.Val618=)
|
rs1783234008
|
0.00001
|
NM_002047.4(GARS1):c.1859C>T (p.Pro620Leu)
|
rs892958904
|
0.00001
|
NM_002047.4(GARS1):c.186G>C (p.Glu62Asp)
|
rs1554336540
|
0.00001
|
NM_002047.4(GARS1):c.1904-3T>A
|
rs775575408
|
0.00001
|
NM_002047.4(GARS1):c.1905G>A (p.Ser635=)
|
rs773889809
|
0.00001
|
NM_002047.4(GARS1):c.1960A>G (p.Ile654Val)
|
rs1406586832
|
0.00001
|
NM_002047.4(GARS1):c.1969C>T (p.Arg657Cys)
|
rs781585447
|
0.00001
|
NM_002047.4(GARS1):c.1996G>A (p.Val666Met)
|
rs544634101
|
0.00001
|
NM_002047.4(GARS1):c.2008G>C (p.Val670Leu)
|
rs376585160
|
0.00001
|
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)
|
rs879254346
|
0.00001
|
NM_002047.4(GARS1):c.2044C>A (p.His682Asn)
|
rs1437642803
|
0.00001
|
NM_002047.4(GARS1):c.2064C>T (p.Asp688=)
|
rs528105619
|
0.00001
|
NM_002047.4(GARS1):c.207A>G (p.Leu69=)
|
rs891212642
|
0.00001
|
NM_002047.4(GARS1):c.208G>C (p.Ala70Pro)
|
rs1008199275
|
0.00001
|
NM_002047.4(GARS1):c.2108C>T (p.Pro703Leu)
|
rs1002052289
|
0.00001
|
NM_002047.4(GARS1):c.2123A>T (p.Asp708Val)
|
rs776108138
|
0.00001
|
NM_002047.4(GARS1):c.2156T>C (p.Val719Ala)
|
rs750501453
|
0.00001
|
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala)
|
rs530891983
|
0.00001
|
NM_002047.4(GARS1):c.2168A>G (p.Tyr723Cys)
|
rs559061999
|
0.00001
|
NM_002047.4(GARS1):c.2177T>C (p.Phe726Ser)
|
rs1397264514
|
0.00001
|
NM_002047.4(GARS1):c.2205G>A (p.Glu735=)
|
rs746553499
|
0.00001
|
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274
|
0.00001
|
NM_002047.4(GARS1):c.227A>G (p.Asp76Gly)
|
rs780858299
|
0.00001
|
NM_002047.4(GARS1):c.234G>A (p.Val78=)
|
rs376199921
|
0.00001
|
NM_002047.4(GARS1):c.281C>A (p.Ala94Glu)
|
rs1389930859
|
0.00001
|
NM_002047.4(GARS1):c.300C>G (p.Ala100=)
|
rs781432743
|
0.00001
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212
|
0.00001
|
NM_002047.4(GARS1):c.352A>G (p.Ile118Val)
|
rs200025018
|
0.00001
|
NM_002047.4(GARS1):c.362G>A (p.Arg121Gln)
|
rs1363263798
|
0.00001
|
NM_002047.4(GARS1):c.37C>T (p.Arg13Cys)
|
rs1467460367
|
0.00001
|
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272
|
0.00001
|
NM_002047.4(GARS1):c.401A>G (p.Tyr134Cys)
|
rs898879117
|
0.00001
|
NM_002047.4(GARS1):c.427+12A>G
|
rs1171383899
|
0.00001
|
NM_002047.4(GARS1):c.427+14G>T
|
rs1451264630
|
0.00001
|
NM_002047.4(GARS1):c.436G>A (p.Gly146Ser)
|
rs1309618721
|
0.00001
|
NM_002047.4(GARS1):c.471G>C (p.Leu157Phe)
|
rs367915362
|
0.00001
|
NM_002047.4(GARS1):c.478A>G (p.Asn160Asp)
|
rs372198757
|
0.00001
|
NM_002047.4(GARS1):c.492C>G (p.Thr164=)
|
rs368297381
|
0.00001
|
NM_002047.4(GARS1):c.507T>C (p.Phe169=)
|
rs1791368083
|
0.00001
|
NM_002047.4(GARS1):c.531G>A (p.Glu177=)
|
rs759865366
|
0.00001
|
NM_002047.4(GARS1):c.585A>T (p.Val195=)
|
rs1272746326
|
0.00001
|
NM_002047.4(GARS1):c.615C>T (p.Asp205=)
|
rs370008019
|
0.00001
|
NM_002047.4(GARS1):c.658+17C>T
|
rs761669283
|
0.00001
|
NM_002047.4(GARS1):c.662A>G (p.His221Arg)
|
rs1279978899
|
0.00001
|
NM_002047.4(GARS1):c.668A>G (p.Gln223Arg)
|
rs750901652
|
0.00001
|
NM_002047.4(GARS1):c.671A>T (p.Lys224Ile)
|
rs756641901
|
0.00001
|
NM_002047.4(GARS1):c.723T>C (p.Ser241=)
|
rs767839744
|
0.00001
|
NM_002047.4(GARS1):c.733C>A (p.Gln245Lys)
|
rs756629704
|
0.00001
|
NM_002047.4(GARS1):c.737T>G (p.Leu246Arg)
|
rs200437855
|
0.00001
|
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
|
rs201399681
|
0.00001
|
NM_002047.4(GARS1):c.804T>C (p.Thr268=)
|
rs774076531
|
0.00001
|
NM_002047.4(GARS1):c.843G>A (p.Met281Ile)
|
rs545669679
|
0.00001
|
NM_002047.4(GARS1):c.855C>G (p.Phe285Leu)
|
rs786204099
|
0.00001
|
NM_002047.4(GARS1):c.881+20T>C
|
rs781026645
|
0.00001
|
NM_002047.4(GARS1):c.929G>A (p.Arg310Gln)
|
rs1135401748
|
0.00001
|
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro)
|
rs863223328
|
0.00001
|
NM_002047.4(GARS1):c.980G>C (p.Gly327Ala)
|
rs774283805
|
0.00001
|
NC_000007.13:g.(?_30642630)_(30649366_?)del
|
|
|
NC_000007.14:g.(?_30598776)_(30598917_?)del
|
|
|
NC_000007.14:g.(?_30615886)_(30633870_?)dup
|
|
|
NM_002047.2(GARS1):c.-180G>C
|
rs919928419
|
|
NM_002047.2(GARS1):c.-195A>T
|
rs940014942
|
|
NM_002047.2(GARS1):c.-197G>C
|
rs886062269
|
|
NM_002047.2(GARS1):c.-418T>A
|
rs115725201
|
|
NM_002047.2(GARS1):c.-45C>G
|
rs903029869
|
|
NM_002047.2(GARS1):c.-59C>T
|
rs886062271
|
|
NM_002047.2(GARS1):c.-64C>T
|
rs932663016
|
|
NM_002047.2(GARS1):c.-69T>G
|
rs527307703
|
|
NM_002047.4(GARS1):c.*145del
|
rs529035174
|
|
NM_002047.4(GARS1):c.*36del
|
rs758974790
|
|
NM_002047.4(GARS1):c.*49_*51del
|
|
|
NM_002047.4(GARS1):c.*50_*51del
|
rs70983380
|
|
NM_002047.4(GARS1):c.*51del
|
rs70983380
|
|
NM_002047.4(GARS1):c.*51dup
|
rs70983380
|
|
NM_002047.4(GARS1):c.-36C>A
|
rs531483802
|
|
NM_002047.4(GARS1):c.-38G>A
|
rs1054637945
|
|
NM_002047.4(GARS1):c.-40C>A
|
rs775425723
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1001T>C (p.Ile334Thr)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1001T>G (p.Ile334Ser)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)
|
rs1303447354
|
|
NM_002047.4(GARS1):c.1004C>T (p.Ser335Phe)
|
|
|
NM_002047.4(GARS1):c.1005C>T (p.Ser335=)
|
|
|
NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser)
|
rs1554338264
|
|
NM_002047.4(GARS1):c.1007C>A (p.Pro336His)
|
rs2128134025
|
|
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg)
|
rs2128134025
|
|
NM_002047.4(GARS1):c.1007C>T (p.Pro336Leu)
|
|
|
NM_002047.4(GARS1):c.1009C>T (p.Arg337Ter)
|
rs767696937
|
|
NM_002047.4(GARS1):c.1010G>A (p.Arg337Gln)
|
|
|
NM_002047.4(GARS1):c.1015G>A (p.Gly339Arg)
|
rs2128134030
|
|
NM_002047.4(GARS1):c.1017A>G (p.Gly339=)
|
|
|
NM_002047.4(GARS1):c.101G>T (p.Arg34Leu)
|
|
|
NM_002047.4(GARS1):c.1023C>T (p.Ile341=)
|
|
|
NM_002047.4(GARS1):c.1031+10A>T
|
|
|
NM_002047.4(GARS1):c.1031+19T>C
|
|
|
NM_002047.4(GARS1):c.1031+1G>A
|
rs1554338272
|
|
NM_002047.4(GARS1):c.1031+6G>T
|
rs2128134034
|
|
NM_002047.4(GARS1):c.1031+7C>T
|
|
|
NM_002047.4(GARS1):c.1031+9C>G
|
|
|
NM_002047.4(GARS1):c.1032-6T>C
|
|
|
NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly)
|
rs1554338641
|
|
NM_002047.4(GARS1):c.1041A>C (p.Thr347=)
|
|
|
NM_002047.4(GARS1):c.1046C>T (p.Ala349Val)
|
|
|
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys)
|
rs770934994
|
|
NM_002047.4(GARS1):c.104C>T (p.Ser35Phe)
|
|
|
NM_002047.4(GARS1):c.1067A>G (p.Asp356Gly)
|
|
|
NM_002047.4(GARS1):c.1068T>A (p.Asp356Glu)
|
rs1344399581
|
|
NM_002047.4(GARS1):c.1088C>G (p.Pro363Arg)
|
|
|
NM_002047.4(GARS1):c.1092G>T (p.Lys364Asn)
|
rs1357360844
|
|
NM_002047.4(GARS1):c.1095C>G (p.Phe365Leu)
|
|
|
NM_002047.4(GARS1):c.1109A>G (p.Asp370Gly)
|
|
|
NM_002047.4(GARS1):c.110G>A (p.Ser37Asn)
|
rs2128131936
|
|
NM_002047.4(GARS1):c.110del (p.Ser37fs)
|
rs1284420601
|
|
NM_002047.4(GARS1):c.1123T>C (p.Leu375=)
|
rs544280407
|
|
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
|
rs1782883200
|
|
NM_002047.4(GARS1):c.1154A>G (p.Gln385Arg)
|
rs2128134481
|
|
NM_002047.4(GARS1):c.1155G>C (p.Gln385His)
|
rs1584038245
|
|
NM_002047.4(GARS1):c.1162C>A (p.Arg388=)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1162C>G (p.Arg388Gly)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1162C>T (p.Arg388Trp)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1168A>G (p.Met390Val)
|
|
|
NM_002047.4(GARS1):c.1170G>A (p.Met390Ile)
|
rs1436808636
|
|
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1172G>A (p.Arg391His)
|
rs199832199
|
|
NM_002047.4(GARS1):c.1172G>T (p.Arg391Leu)
|
|
|
NM_002047.4(GARS1):c.1176G>A (p.Leu392=)
|
|
|
NM_002047.4(GARS1):c.117C>T (p.Ala39=)
|
|
|
NM_002047.4(GARS1):c.1181A>G (p.Asp394Gly)
|
rs1278294610
|
|
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)
|
rs1060502836
|
|
NM_002047.4(GARS1):c.1194+12G>C
|
|
|
NM_002047.4(GARS1):c.1194+2T>G
|
|
|
NM_002047.4(GARS1):c.1194+3A>C
|
rs1782884805
|
|
NM_002047.4(GARS1):c.1195-8T>C
|
|
|
NM_002047.4(GARS1):c.1198G>A (p.Val400Met)
|
rs1782903666
|
|
NM_002047.4(GARS1):c.11C>G (p.Pro4Arg)
|
|
|
NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser)
|
rs1000458033
|
|
NM_002047.4(GARS1):c.1225T>G (p.Phe409Val)
|
rs1782904125
|
|
NM_002047.4(GARS1):c.1227C>A (p.Phe409Leu)
|
rs1241301935
|
|
NM_002047.4(GARS1):c.1235G>A (p.Arg412His)
|
|
|
NM_002047.4(GARS1):c.1237A>G (p.Ile413Val)
|
|
|
NM_002047.4(GARS1):c.123_124insG (p.Pro42fs)
|
rs1554336520
|
|
NM_002047.4(GARS1):c.1245C>T (p.Leu415=)
|
rs1584039354
|
|
NM_002047.4(GARS1):c.124C>A (p.Pro42Thr)
|
|
|
NM_002047.4(GARS1):c.1264A>C (p.Ile422Leu)
|
|
|
NM_002047.4(GARS1):c.1282C>T (p.Arg428Cys)
|
rs951085877
|
|
NM_002047.4(GARS1):c.1283G>T (p.Arg428Leu)
|
rs1203971547
|
|
NM_002047.4(GARS1):c.1289G>A (p.Arg430Gln)
|
rs1430190191
|
|
NM_002047.4(GARS1):c.128C>G (p.Pro43Arg)
|
rs570608946
|
|
NM_002047.4(GARS1):c.1291C>A (p.Gln431Lys)
|
rs375133923
|
|
NM_002047.4(GARS1):c.1296C>A (p.His432Gln)
|
rs2128134619
|
|
NM_002047.4(GARS1):c.1304A>G (p.Asn435Ser)
|
|
|
NM_002047.4(GARS1):c.130A>C (p.Ile44Leu)
|
rs1584017371
|
|
NM_002047.4(GARS1):c.1312G>A (p.Ala438Thr)
|
|
|
NM_002047.4(GARS1):c.1315C>T (p.His439Tyr)
|
rs1782906838
|
|
NM_002047.4(GARS1):c.131T>G (p.Ile44Ser)
|
rs1791215308
|
|
NM_002047.4(GARS1):c.1337A>T (p.Asp446Val)
|
rs1554338834
|
|
NM_002047.4(GARS1):c.1348A>G (p.Lys450Glu)
|
|
|
NM_002047.4(GARS1):c.1359+17T>G
|
|
|
NM_002047.4(GARS1):c.1359+3A>G
|
|
|
NM_002047.4(GARS1):c.1360-322del
|
rs749336250
|
|
NM_002047.4(GARS1):c.1360-339_1360-336del
|
rs199878197
|
|
NM_002047.4(GARS1):c.1372A>G (p.Ile458Val)
|
|
|
NM_002047.4(GARS1):c.1379G>C (p.Gly460Ala)
|
rs924595179
|
|
NM_002047.4(GARS1):c.1381T>C (p.Cys461Arg)
|
|
|
NM_002047.4(GARS1):c.1387G>T (p.Asp463Tyr)
|
rs1554339284
|
|
NM_002047.4(GARS1):c.1391_1407del (p.Arg464fs)
|
rs2128135088
|
|
NM_002047.4(GARS1):c.1393del (p.Ser465fs)
|
|
|
NM_002047.4(GARS1):c.1396T>C (p.Cys466Arg)
|
rs2128135092
|
|
NM_002047.4(GARS1):c.1397G>T (p.Cys466Phe)
|
rs756498678
|
|
NM_002047.4(GARS1):c.1400A>T (p.Tyr467Phe)
|
|
|
NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala)
|
rs1584043561
|
|
NM_002047.4(GARS1):c.1407C>G (p.Leu469=)
|
rs2128135093
|
|
NM_002047.4(GARS1):c.1409C>G (p.Ser470Cys)
|
|
|
NM_002047.4(GARS1):c.1411T>A (p.Cys471Ser)
|
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.1415dup (p.His472fs)
|
rs2128135098
|
|
NM_002047.4(GARS1):c.141C>A (p.Pro47=)
|
|
|
NM_002047.4(GARS1):c.1421G>A (p.Arg474Gln)
|
rs1345590827
|
|
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)
|
rs1783005436
|
|
NM_002047.4(GARS1):c.1428C>G (p.Thr476=)
|
|
|
NM_002047.4(GARS1):c.1428C>T (p.Thr476=)
|
rs1212959476
|
|
NM_002047.4(GARS1):c.1433T>A (p.Val478Asp)
|
rs2128135103
|
|
NM_002047.4(GARS1):c.1447G>A (p.Glu483Lys)
|
|
|
NM_002047.4(GARS1):c.1454C>G (p.Pro485Arg)
|
|
|
NM_002047.4(GARS1):c.145G>C (p.Ala49Pro)
|
|
|
NM_002047.4(GARS1):c.1462G>T (p.Glu488Ter)
|
|
|
NM_002047.4(GARS1):c.1465C>T (p.Pro489Ser)
|
|
|
NM_002047.4(GARS1):c.1467+11T>C
|
|
|
NM_002047.4(GARS1):c.1468-15T>C
|
|
|
NM_002047.4(GARS1):c.1468-1C>G
|
rs2128135187
|
|
NM_002047.4(GARS1):c.1468-20A>T
|
|
|
NM_002047.4(GARS1):c.1468-6T>G
|
rs1584044490
|
|
NM_002047.4(GARS1):c.1474G>A (p.Val492Ile)
|
|
|
NM_002047.4(GARS1):c.1490T>G (p.Phe497Cys)
|
|
|
NM_002047.4(GARS1):c.1495C>T (p.Pro499Ser)
|
rs1428449193
|
|
NM_002047.4(GARS1):c.1497C>A (p.Pro499=)
|
rs1783029120
|
|
NM_002047.4(GARS1):c.1499G>C (p.Ser500Thr)
|
|
|
NM_002047.4(GARS1):c.1510A>G (p.Ile504Val)
|
|
|
NM_002047.4(GARS1):c.1518G>A (p.Lys506=)
|
rs1783029490
|
|
NM_002047.4(GARS1):c.1524T>G (p.Tyr508Ter)
|
|
|
NM_002047.4(GARS1):c.1528A>C (p.Lys510Gln)
|
rs1584044584
|
|
NM_002047.4(GARS1):c.1529A>G (p.Lys510Arg)
|
|
|
NM_002047.4(GARS1):c.1531G>C (p.Asp511His)
|
|
|
NM_002047.4(GARS1):c.154C>G (p.Arg52Gly)
|
|
|
NM_002047.4(GARS1):c.1551G>A (p.Glu517=)
|
rs2128135204
|
|
NM_002047.4(GARS1):c.1568A>T (p.Asp523Val)
|
rs779225125
|
|
NM_002047.4(GARS1):c.1574G>A (p.Cys525Tyr)
|
rs758225567
|
|
NM_002047.4(GARS1):c.1575C>T (p.Cys525=)
|
|
|
NM_002047.4(GARS1):c.1578C>T (p.Tyr526=)
|
rs371268919
|
|
NM_002047.4(GARS1):c.1581T>A (p.Ile527=)
|
rs960876782
|
|
NM_002047.4(GARS1):c.1592A>C (p.Glu531Ala)
|
rs1783032476
|
|
NM_002047.4(GARS1):c.1592A>G (p.Glu531Gly)
|
|
|
NM_002047.4(GARS1):c.1608G>A (p.Glu536=)
|
|
|
NM_002047.4(GARS1):c.1613+10C>A
|
|
|
NM_002047.4(GARS1):c.1613+199del
|
rs74274581
|
|
NM_002047.4(GARS1):c.1613+3A>G
|
|
|
NM_002047.4(GARS1):c.1613+9T>A
|
rs75855065
|
|
NM_002047.4(GARS1):c.1614-13T>A
|
|
|
NM_002047.4(GARS1):c.1614-17_1614-16del
|
|
|
NM_002047.4(GARS1):c.1614-4G>A
|
rs376324026
|
|
NM_002047.4(GARS1):c.1614-4G>C
|
rs376324026
|
|
NM_002047.4(GARS1):c.1622C>G (p.Thr541Arg)
|
rs745739050
|
|
NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)
|
|
|
NM_002047.4(GARS1):c.1642A>C (p.Thr548Pro)
|
|
|
NM_002047.4(GARS1):c.1643C>G (p.Thr548Arg)
|
rs541222096
|
|
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)
|
rs1783125064
|
|
NM_002047.4(GARS1):c.1646T>C (p.Phe549Ser)
|
|
|
NM_002047.4(GARS1):c.164T>C (p.Met55Thr)
|
|
|
NM_002047.4(GARS1):c.1657A>G (p.Lys553Glu)
|
rs1783125497
|
|
NM_002047.4(GARS1):c.166G>A (p.Asp56Asn)
|
|
|
NM_002047.4(GARS1):c.1675A>G (p.Lys559Glu)
|
|
|
NM_002047.4(GARS1):c.1695A>G (p.Leu565=)
|
|
|
NM_002047.4(GARS1):c.1697A>G (p.Tyr566Cys)
|
|
|
NM_002047.4(GARS1):c.1699+18A>G
|
|
|
NM_002047.4(GARS1):c.1699+23_1699+26del
|
|
|
NM_002047.4(GARS1):c.1699+6T>A
|
rs1362621582
|
|
NM_002047.4(GARS1):c.1700-11C>G
|
|
|
NM_002047.4(GARS1):c.1700-13A>T
|
rs762966640
|
|
NM_002047.4(GARS1):c.1700-1G>A
|
rs1584051498
|
|
NM_002047.4(GARS1):c.1700-6T>C
|
|
|
NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys)
|
rs1060502839
|
|
NM_002047.4(GARS1):c.1708G>A (p.Val570Ile)
|
rs1783172399
|
|
NM_002047.4(GARS1):c.1719T>C (p.Asn573=)
|
|
|
NM_002047.4(GARS1):c.1719T>G (p.Asn573Lys)
|
rs1242186885
|
|
NM_002047.4(GARS1):c.1720G>A (p.Val574Ile)
|
|
|
NM_002047.4(GARS1):c.1734C>T (p.Ser578=)
|
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.1743G>A (p.Leu581=)
|
|
|
NM_002047.4(GARS1):c.1744_1745delinsAA (p.Gly582Asn)
|
|
|
NM_002047.4(GARS1):c.1745G>A (p.Gly582Asp)
|
rs2128135873
|
|
NM_002047.4(GARS1):c.1746T>C (p.Gly582=)
|
rs1783174238
|
|
NM_002047.4(GARS1):c.1748G>A (p.Arg583Lys)
|
|
|
NM_002047.4(GARS1):c.1764A>T (p.Val588=)
|
rs1359108145
|
|
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
|
rs1783175611
|
|
NM_002047.4(GARS1):c.1780C>T (p.His594Tyr)
|
|
|
NM_002047.4(GARS1):c.1785A>G (p.Val595=)
|
|
|
NM_002047.4(GARS1):c.1786C>T (p.Arg596Ter)
|
|
|
NM_002047.4(GARS1):c.1787G>A (p.Arg596Gln)
|
|
|
NM_002047.4(GARS1):c.1790_1792del (p.Glu597del)
|
rs879254345
|
|
NM_002047.4(GARS1):c.17C>T (p.Pro6Leu)
|
|
|
NM_002047.4(GARS1):c.1805G>A (p.Arg602Lys)
|
|
|
NM_002047.4(GARS1):c.1806A>G (p.Arg602=)
|
rs1314425578
|
|
NM_002047.4(GARS1):c.1809+10_1809+12del
|
rs747338292
|
|
NM_002047.4(GARS1):c.1809+12T>A
|
|
|
NM_002047.4(GARS1):c.1809+1G>A
|
rs1554340340
|
|
NM_002047.4(GARS1):c.1809+20G>A
|
|
|
NM_002047.4(GARS1):c.1809+8G>A
|
rs766137918
|
|
NM_002047.4(GARS1):c.1809+8G>C
|
rs766137918
|
|
NM_002047.4(GARS1):c.1810-12T>A
|
|
|
NM_002047.4(GARS1):c.1810-2A>T
|
|
|
NM_002047.4(GARS1):c.1810-4C>T
|
|
|
NM_002047.4(GARS1):c.1812C>A (p.Phe604Leu)
|
|
|
NM_002047.4(GARS1):c.1817G>C (p.Ser606Thr)
|
|
|
NM_002047.4(GARS1):c.181G>C (p.Glu61Gln)
|
|
|
NM_002047.4(GARS1):c.1827T>C (p.Ala609=)
|
rs2128136202
|
|
NM_002047.4(GARS1):c.1850C>A (p.Ser617Tyr)
|
rs765235116
|
|
NM_002047.4(GARS1):c.1851C>T (p.Ser617=)
|
rs377159922
|
|
NM_002047.4(GARS1):c.1885C>G (p.Pro629Ala)
|
|
|
NM_002047.4(GARS1):c.1893C>G (p.Val631=)
|
|
|
NM_002047.4(GARS1):c.189G>C (p.Val63=)
|
|
|
NM_002047.4(GARS1):c.18A>G (p.Pro6=)
|
rs1584016961
|
|
NM_002047.4(GARS1):c.1902A>G (p.Leu634=)
|
rs2128136213
|
|
NM_002047.4(GARS1):c.1903+14A>G
|
|
|
NM_002047.4(GARS1):c.1903+15T>C
|
|
|
NM_002047.4(GARS1):c.1903+16T>A
|
|
|
NM_002047.4(GARS1):c.1903+16T>G
|
|
|
NM_002047.4(GARS1):c.1903+18G>A
|
rs2128136216
|
|
NM_002047.4(GARS1):c.1904-11A>G
|
|
|
NM_002047.4(GARS1):c.1904-19C>T
|
rs1204535363
|
|
NM_002047.4(GARS1):c.1904-5G>A
|
|
|
NM_002047.4(GARS1):c.1904C>G (p.Ser635Trp)
|
|
|
NM_002047.4(GARS1):c.190_192dup (p.Leu64dup)
|
rs1562769487
|
|
NM_002047.4(GARS1):c.1914G>A (p.Leu638=)
|
|
|
NM_002047.4(GARS1):c.1927G>A (p.Val643Ile)
|
rs1554340789
|
|
NM_002047.4(GARS1):c.1943A>G (p.Asp648Gly)
|
|
|
NM_002047.4(GARS1):c.1944C>T (p.Asp648=)
|
|
|
NM_002047.4(GARS1):c.1945G>C (p.Asp649His)
|
|
|
NM_002047.4(GARS1):c.194C>A (p.Ala65Glu)
|
|
|
NM_002047.4(GARS1):c.194C>T (p.Ala65Val)
|
rs1179352387
|
|
NM_002047.4(GARS1):c.1954G>C (p.Gly652Arg)
|
rs1783251037
|
|
NM_002047.4(GARS1):c.1955G>A (p.Gly652Glu)
|
|
|
NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala)
|
rs747080824
|
|
NM_002047.4(GARS1):c.1956G>T (p.Gly652=)
|
rs1783251236
|
|
NM_002047.4(GARS1):c.1963G>A (p.Gly655Arg)
|
|
|
NM_002047.4(GARS1):c.1970G>A (p.Arg657His)
|
|
|
NM_002047.4(GARS1):c.1977C>T (p.Ala659=)
|
rs746028145
|
|
NM_002047.4(GARS1):c.197C>G (p.Pro66Arg)
|
|
|
NM_002047.4(GARS1):c.1981A>G (p.Thr661Ala)
|
rs1783252231
|
|
NM_002047.4(GARS1):c.1991T>G (p.Ile664Ser)
|
rs1064797334
|
|
NM_002047.4(GARS1):c.1992T>A (p.Ile664=)
|
rs1584055669
|
|
NM_002047.4(GARS1):c.1995C>T (p.Gly665=)
|
|
|
NM_002047.4(GARS1):c.1A>T (p.Met1Leu)
|
rs1345458433
|
|
NM_002047.4(GARS1):c.2005G>A (p.Gly669Ser)
|
|
|
NM_002047.4(GARS1):c.2010C>T (p.Val670=)
|
|
|
NM_002047.4(GARS1):c.2014A>G (p.Ile672Val)
|
rs1562784262
|
|
NM_002047.4(GARS1):c.2015T>C (p.Ile672Thr)
|
rs1554340824
|
|
NM_002047.4(GARS1):c.2029G>C (p.Val677Leu)
|
rs2128136305
|
|
NM_002047.4(GARS1):c.2037del (p.Thr680fs)
|
|
|
NM_002047.4(GARS1):c.2047A>G (p.Thr683Ala)
|
|
|
NM_002047.4(GARS1):c.2049T>C (p.Thr683=)
|
|
|
NM_002047.4(GARS1):c.2050G>A (p.Ala684Thr)
|
|
|
NM_002047.4(GARS1):c.2055T>C (p.Thr685=)
|
|
|
NM_002047.4(GARS1):c.2062G>C (p.Asp688His)
|
|
|
NM_002047.4(GARS1):c.2065C>T (p.Arg689Cys)
|
rs376308368
|
|
NM_002047.4(GARS1):c.2073_2074del (p.Met692fs)
|
|
|
NM_002047.4(GARS1):c.2074A>G (p.Met692Val)
|
|
|
NM_002047.4(GARS1):c.2078G>A (p.Arg693Gln)
|
|
|
NM_002047.4(GARS1):c.2094+12T>C
|
|
|
NM_002047.4(GARS1):c.2094+18T>G
|
|
|
NM_002047.4(GARS1):c.2095-16C>T
|
|
|
NM_002047.4(GARS1):c.2096T>A (p.Ile699Asn)
|
rs2128136441
|
|
NM_002047.4(GARS1):c.20T>G (p.Val7Gly)
|
|
|
NM_002047.4(GARS1):c.2110A>G (p.Ser704Gly)
|
|
|
NM_002047.4(GARS1):c.2121A>C (p.Gln707His)
|
rs1554340999
|
|
NM_002047.4(GARS1):c.212T>C (p.Val71Ala)
|
|
|
NM_002047.4(GARS1):c.2159A>T (p.Glu720Val)
|
|
|
NM_002047.4(GARS1):c.2165_2169del (p.Arg722fs)
|
|
|
NM_002047.4(GARS1):c.216C>T (p.Arg72=)
|
|
|
NM_002047.4(GARS1):c.2182G>A (p.Gly728Arg)
|
rs1422434626
|
|
NM_002047.4(GARS1):c.2187A>G (p.Gln729=)
|
|
|
NM_002047.4(GARS1):c.2188G>C (p.Glu730Gln)
|
rs1783283131
|
|
NM_002047.4(GARS1):c.218A>T (p.Gln73Leu)
|
|
|
NM_002047.4(GARS1):c.2193T>A (p.Thr731=)
|
|
|
NM_002047.4(GARS1):c.2198A>T (p.Lys733Ile)
|
|
|
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)
|
rs1785775131
|
|
NM_002047.4(GARS1):c.2206A>G (p.Thr736Ala)
|
rs1785775131
|
|
NM_002047.4(GARS1):c.2209A>G (p.Ile737Val)
|
|
|
NM_002047.4(GARS1):c.2218T>A (p.Ter740Arg)
|
|
|
NM_002047.4(GARS1):c.2219G>A (p.Ter740=)
|
|
|
NM_002047.4(GARS1):c.222+17C>A
|
|
|
NM_002047.4(GARS1):c.222+6G>A
|
|
|
NM_002047.4(GARS1):c.2220A>C (p.Ter740Cys)
|
rs1783284502
|
|
NM_002047.4(GARS1):c.223-5G>A
|
|
|
NM_002047.4(GARS1):c.223-5G>T
|
|
|
NM_002047.4(GARS1):c.235C>T (p.Arg79Ter)
|
rs1479788149
|
|
NM_002047.4(GARS1):c.246_249del (p.Glu83fs)
|
rs1135401747
|
|
NM_002047.4(GARS1):c.250G>A (p.Asp84Asn)
|
rs2128132417
|
|
NM_002047.4(GARS1):c.261C>T (p.Pro87=)
|
|
|
NM_002047.4(GARS1):c.263A>G (p.Gln88Arg)
|
|
|
NM_002047.4(GARS1):c.286G>A (p.Ala96Thr)
|
|
|
NM_002047.4(GARS1):c.28A>G (p.Arg10Gly)
|
|
|
NM_002047.4(GARS1):c.302G>T (p.Arg101Leu)
|
rs200887429
|
|
NM_002047.4(GARS1):c.308G>C (p.Arg103Thr)
|
|
|
NM_002047.4(GARS1):c.309G>C (p.Arg103Ser)
|
rs768571328
|
|
NM_002047.4(GARS1):c.311T>C (p.Val104Ala)
|
|
|
NM_002047.4(GARS1):c.313C>G (p.Leu105Val)
|
rs1791317535
|
|
NM_002047.4(GARS1):c.315G>A (p.Leu105=)
|
rs2128132436
|
|
NM_002047.4(GARS1):c.31G>A (p.Gly11Ser)
|
|
|
NM_002047.4(GARS1):c.324+19A>C
|
rs1249363035
|
|
NM_002047.4(GARS1):c.324G>A (p.Lys108=)
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|
NM_002047.4(GARS1):c.325-292G>T
|
rs147169899
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NM_002047.4(GARS1):c.325-2A>G
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|
|
NM_002047.4(GARS1):c.325-9C>A
|
rs770645408
|
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NM_002047.4(GARS1):c.325G>A (p.Glu109Lys)
|
rs1036198120
|
|
NM_002047.4(GARS1):c.344A>G (p.Lys115Arg)
|
rs1554336991
|
|
NM_002047.4(GARS1):c.348T>G (p.Asp116Glu)
|
rs2128132552
|
|
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr)
|
rs1584017035
|
|
NM_002047.4(GARS1):c.353T>C (p.Ile118Thr)
|
rs1791340048
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|
NM_002047.4(GARS1):c.366A>G (p.Ala122=)
|
rs1057521413
|
|
NM_002047.4(GARS1):c.373G>A (p.Glu125Lys)
|
rs797044855
|
|
NM_002047.4(GARS1):c.373G>C (p.Glu125Gln)
|
rs797044855
|
|
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)
|
rs137852645
|
|
NM_002047.4(GARS1):c.375A>G (p.Glu125=)
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|
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NM_002047.4(GARS1):c.376G>A (p.Asp126Asn)
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NM_002047.4(GARS1):c.377A>T (p.Asp126Val)
|
rs766540026
|
|
NM_002047.4(GARS1):c.38_39delinsCT (p.Arg13Pro)
|
rs1554336495
|
|
NM_002047.4(GARS1):c.3G>A (p.Met1Ile)
|
rs781520666
|
|
NM_002047.4(GARS1):c.406C>A (p.Gln136Lys)
|
rs2128132565
|
|
NM_002047.4(GARS1):c.418A>C (p.Ile140Leu)
|
rs888805042
|
|
NM_002047.4(GARS1):c.418A>G (p.Ile140Val)
|
|
|
NM_002047.4(GARS1):c.427G>A (p.Gly143Ser)
|
rs1584022929
|
|
NM_002047.4(GARS1):c.428-171del
|
rs144012888
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|
NM_002047.4(GARS1):c.428-6_432del
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|
NM_002047.4(GARS1):c.428-9A>G
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|
|
NM_002047.4(GARS1):c.435T>C (p.Ser145=)
|
rs2128132709
|
|
NM_002047.4(GARS1):c.43G>A (p.Ala15Thr)
|
|
|
NM_002047.4(GARS1):c.446A>G (p.Asp149Gly)
|
rs1791365947
|
|
NM_002047.4(GARS1):c.450T>A (p.Phe150Leu)
|
rs751505742
|
|
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)
|
rs1554337168
|
|
NM_002047.4(GARS1):c.45T>G (p.Ala15=)
|
|
|
NM_002047.4(GARS1):c.460G>A (p.Gly154Ser)
|
|
|
NM_002047.4(GARS1):c.463T>A (p.Cys155Ser)
|
|
|
NM_002047.4(GARS1):c.46C>G (p.Leu16Val)
|
rs2128131920
|
|
NM_002047.4(GARS1):c.474G>A (p.Lys158=)
|
|
|
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del)
|
rs150213018
|
|
NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup)
|
rs150213018
|
|
NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup)
|
rs150213018
|
|
NM_002047.4(GARS1):c.481A>G (p.Ile161Val)
|
rs1202467613
|
|
NM_002047.4(GARS1):c.481ATT[1] (p.Ile162del)
|
|
|
NM_002047.4(GARS1):c.48G>A (p.Leu16=)
|
|
|
NM_002047.4(GARS1):c.516_517delinsTA (p.Glu172_Glu173delinsAspLys)
|
rs2128132720
|
|
NM_002047.4(GARS1):c.520C>G (p.Gln174Glu)
|
|
|
NM_002047.4(GARS1):c.532A>G (p.Ile178Val)
|
rs1791369066
|
|
NM_002047.4(GARS1):c.534C>G (p.Ile178Met)
|
rs774732829
|
|
NM_002047.4(GARS1):c.535G>A (p.Asp179Asn)
|
|
|
NM_002047.4(GARS1):c.537T>C (p.Asp179=)
|
rs772899197
|
|
NM_002047.4(GARS1):c.542C>T (p.Thr181Ile)
|
rs1425456318
|
|
NM_002047.4(GARS1):c.547C>T (p.Leu183Phe)
|
rs1584024072
|
|
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)
|
rs137852644
|
|
NM_002047.4(GARS1):c.553C>G (p.Pro185Ala)
|
|
|
NM_002047.4(GARS1):c.557_558delinsGC (p.Glu186Gly)
|
rs2128132725
|
|
NM_002047.4(GARS1):c.569+12C>T
|
|
|
NM_002047.4(GARS1):c.569+20T>G
|
rs2128132727
|
|
NM_002047.4(GARS1):c.569+8C>A
|
rs1554337181
|
|
NM_002047.4(GARS1):c.570-68_570-64del
|
rs141443294
|
|
NM_002047.4(GARS1):c.570-8T>G
|
|
|
NM_002047.4(GARS1):c.575C>G (p.Ser192Cys)
|
|
|
NM_002047.4(GARS1):c.578G>A (p.Gly193Asp)
|
rs1791411808
|
|
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
|
rs1554337369
|
|
NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr)
|
rs1554337369
|
|
NM_002047.4(GARS1):c.5C>T (p.Pro2Leu)
|
|
|
NM_002047.4(GARS1):c.606G>A (p.Met202Ile)
|
|
|
NM_002047.4(GARS1):c.614A>T (p.Asp205Val)
|
rs2128132956
|
|
NM_002047.4(GARS1):c.614_615delinsTA (p.Asp205Val)
|
rs2128132958
|
|
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136
|
|
NM_002047.4(GARS1):c.628G>T (p.Glu210Ter)
|
rs1791412752
|
|
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)
|
rs1301948344
|
|
NM_002047.4(GARS1):c.633T>C (p.Cys211=)
|
|
|
NM_002047.4(GARS1):c.638G>A (p.Arg213His)
|
rs780116880
|
|
NM_002047.4(GARS1):c.641C>A (p.Ala214Asp)
|
|
|
NM_002047.4(GARS1):c.642T>C (p.Ala214=)
|
|
|
NM_002047.4(GARS1):c.643G>C (p.Asp215His)
|
rs1584026191
|
|
NM_002047.4(GARS1):c.647A>G (p.His216Arg)
|
rs768987322
|
|
NM_002047.4(GARS1):c.656A>C (p.Lys219Thr)
|
|
|
NM_002047.4(GARS1):c.658+13A>T
|
|
|
NM_002047.4(GARS1):c.658+14T>C
|
rs1210407173
|
|
NM_002047.4(GARS1):c.658+18C>T
|
|
|
NM_002047.4(GARS1):c.658+20T>C
|
|
|
NM_002047.4(GARS1):c.659-14C>G
|
|
|
NM_002047.4(GARS1):c.659-3del
|
rs1791421299
|
|
NM_002047.4(GARS1):c.659C>A (p.Ala220Asp)
|
|
|
NM_002047.4(GARS1):c.683A>C (p.Asp228Ala)
|
rs1791422443
|
|
NM_002047.4(GARS1):c.684T>A (p.Asp228Glu)
|
|
|
NM_002047.4(GARS1):c.685AAG[1] (p.Lys230del)
|
|
|
NM_002047.4(GARS1):c.689A>G (p.Lys230Arg)
|
|
|
NM_002047.4(GARS1):c.691T>G (p.Cys231Gly)
|
rs1584026626
|
|
NM_002047.4(GARS1):c.694del (p.Ser232fs)
|
rs1791422813
|
|
NM_002047.4(GARS1):c.695C>T (p.Ser232Phe)
|
|
|
NM_002047.4(GARS1):c.69G>T (p.Arg23=)
|
rs762624758
|
|
NM_002047.4(GARS1):c.6C>T (p.Pro2=)
|
rs746437033
|
|
NM_002047.4(GARS1):c.701A>G (p.Glu234Gly)
|
|
|
NM_002047.4(GARS1):c.705G>T (p.Lys235Asn)
|
rs759012168
|
|
NM_002047.4(GARS1):c.710C>A (p.Ser237Ter)
|
rs2128133017
|
|
NM_002047.4(GARS1):c.711A>G (p.Ser237=)
|
rs1584026695
|
|
NM_002047.4(GARS1):c.718G>C (p.Glu240Gln)
|
|
|
NM_002047.4(GARS1):c.719A>C (p.Glu240Ala)
|
rs1791423440
|
|
NM_002047.4(GARS1):c.719A>G (p.Glu240Gly)
|
|
|
NM_002047.4(GARS1):c.719A>T (p.Glu240Val)
|
rs1791423440
|
|
NM_002047.4(GARS1):c.722G>A (p.Ser241Asn)
|
rs775140242
|
|
NM_002047.4(GARS1):c.722G>C (p.Ser241Thr)
|
rs775140242
|
|
NM_002047.4(GARS1):c.72C>T (p.Leu24=)
|
rs768665866
|
|
NM_002047.4(GARS1):c.735+12A>G
|
|
|
NM_002047.4(GARS1):c.735+14A>G
|
|
|
NM_002047.4(GARS1):c.736-13A>G
|
|
|
NM_002047.4(GARS1):c.736-13A>T
|
|
|
NM_002047.4(GARS1):c.736-17C>T
|
|
|
NM_002047.4(GARS1):c.736-9G>A
|
|
|
NM_002047.4(GARS1):c.750A>C (p.Gly250=)
|
|
|
NM_002047.4(GARS1):c.750A>G (p.Gly250=)
|
rs766799218
|
|
NM_002047.4(GARS1):c.751C>G (p.Gln251Glu)
|
|
|
NM_002047.4(GARS1):c.759A>G (p.Glu253=)
|
rs1554337956
|
|
NM_002047.4(GARS1):c.764C>A (p.Ala255Glu)
|
rs765478968
|
|
NM_002047.4(GARS1):c.764C>G (p.Ala255Gly)
|
|
|
NM_002047.4(GARS1):c.76del (p.Ala26fs)
|
|
|
NM_002047.4(GARS1):c.770T>A (p.Leu257His)
|
|
|
NM_002047.4(GARS1):c.780C>T (p.Asn260=)
|
rs2128133721
|
|
NM_002047.4(GARS1):c.784A>G (p.Asn262Asp)
|
|
|
NM_002047.4(GARS1):c.790_792del (p.Lys264del)
|
rs1791556326
|
|
NM_002047.4(GARS1):c.794C>A (p.Ser265Tyr)
|
rs1554337974
|
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974
|
|
NM_002047.4(GARS1):c.798dup (p.Ile267fs)
|
rs1562775206
|
|
NM_002047.4(GARS1):c.801T>G (p.Ile267Met)
|
|
|
NM_002047.4(GARS1):c.80G>A (p.Arg27Gln)
|
|
|
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)
|
rs1554337979
|
|
NM_002047.4(GARS1):c.818C>T (p.Ser273Phe)
|
rs1554337983
|
|
NM_002047.4(GARS1):c.835A>G (p.Asn279Asp)
|
|
|
NM_002047.4(GARS1):c.837C>A (p.Asn279Lys)
|
|
|
NM_002047.4(GARS1):c.837C>T (p.Asn279=)
|
rs1029686290
|
|
NM_002047.4(GARS1):c.838T>C (p.Leu280=)
|
|
|
NM_002047.4(GARS1):c.842T>A (p.Met281Lys)
|
rs1791558334
|
|
NM_002047.4(GARS1):c.855C>T (p.Phe285=)
|
rs786204099
|
|
NM_002047.4(GARS1):c.857T>C (p.Ile286Thr)
|
|
|
NM_002047.4(GARS1):c.861G>T (p.Gly287=)
|
|
|
NM_002047.4(GARS1):c.873C>T (p.Asn291=)
|
|
|
NM_002047.4(GARS1):c.875T>C (p.Met292Thr)
|
rs1064795123
|
|
NM_002047.4(GARS1):c.875T>G (p.Met292Arg)
|
rs1064795123
|
|
NM_002047.4(GARS1):c.878C>T (p.Pro293Leu)
|
|
|
NM_002047.4(GARS1):c.87G>T (p.Ser29=)
|
rs772356008
|
|
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
|
rs137852643
|
|
NM_002047.4(GARS1):c.881+17G>A
|
rs1791560409
|
|
NM_002047.4(GARS1):c.882-16T>G
|
|
|
NM_002047.4(GARS1):c.883T>A (p.Tyr295Asn)
|
rs1782769087
|
|
NM_002047.4(GARS1):c.884dup (p.Tyr295Ter)
|
|
|
NM_002047.4(GARS1):c.885C>T (p.Tyr295=)
|
|
|
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)
|
rs137852648
|
|
NM_002047.4(GARS1):c.895G>C (p.Glu299Gln)
|
|
|
NM_002047.4(GARS1):c.8C>A (p.Ser3Tyr)
|
rs1184401493
|
|
NM_002047.4(GARS1):c.900T>C (p.Thr300=)
|
|
|
NM_002047.4(GARS1):c.909G>C (p.Gly303=)
|
|
|
NM_002047.4(GARS1):c.93G>A (p.Leu31=)
|
rs2529438
|
|
NM_002047.4(GARS1):c.93_94delinsCG (p.Leu32Val)
|
|
|
NM_002047.4(GARS1):c.944A>G (p.Asn315Ser)
|
|
|
NM_002047.4(GARS1):c.953A>T (p.Lys318Met)
|
rs2128134017
|
|
NM_002047.4(GARS1):c.968C>T (p.Ala323Val)
|
rs2128134021
|
|
NM_002047.4(GARS1):c.969T>G (p.Ala323=)
|
|
|
NM_002047.4(GARS1):c.972C>A (p.Ala324=)
|
|
|
NM_002047.4(GARS1):c.972C>T (p.Ala324=)
|
rs764305863
|
|
NM_002047.4(GARS1):c.977T>C (p.Ile326Thr)
|
|
|
NM_002047.4(GARS1):c.979G>A (p.Gly327Arg)
|
rs1584034430
|
|
NM_002047.4(GARS1):c.979G>C (p.Gly327Arg)
|
rs1584034430
|
|
NM_002047.4(GARS1):c.982A>G (p.Asn328Asp)
|
|
|
NM_002047.4(GARS1):c.983A>G (p.Asn328Ser)
|
|
|
NM_002047.4(GARS1):c.998A>C (p.Glu333Ala)
|
rs863224873
|
|
NM_002047.4(GARS1):c.998A>G (p.Glu333Gly)
|
rs863224873
|
|
NM_002047.4(GARS1):c.998A>T (p.Glu333Val)
|
rs863224873
|
|
NM_002047.4(GARS1):c.999G>C (p.Glu333Asp)
|
|
|