NM_003680.4(YARS1):c.1218G>C (p.Leu406=)
|
rs699005
|
0.10610
|
NM_003680.4(YARS1):c.*293A>G
|
rs16866009
|
0.04739
|
NM_003680.4(YARS1):c.*681T>G
|
rs78319035
|
0.00714
|
NM_003680.4(YARS1):c.*284A>G
|
rs150690731
|
0.00347
|
NM_003680.4(YARS1):c.1082A>T (p.Glu361Val)
|
rs61737106
|
0.00343
|
NM_003680.4(YARS1):c.*439T>C
|
rs184249741
|
0.00294
|
NM_003680.4(YARS1):c.*138G>A
|
rs41265857
|
0.00159
|
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)
|
rs149620809
|
0.00128
|
NM_003680.4(YARS1):c.1374G>A (p.Pro458=)
|
rs151227410
|
0.00123
|
NM_003680.4(YARS1):c.*599A>C
|
rs542816112
|
0.00118
|
NM_003680.4(YARS1):c.*21C>A
|
rs149812692
|
0.00066
|
NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr)
|
rs141323599
|
0.00066
|
NM_003680.4(YARS1):c.*386G>T
|
rs144131403
|
0.00053
|
NM_003680.4(YARS1):c.*539A>G
|
rs550239801
|
0.00043
|
NM_003680.4(YARS1):c.1486A>G (p.Lys496Glu)
|
rs200375230
|
0.00041
|
NM_003680.4(YARS1):c.1008G>A (p.Leu336=)
|
rs140232925
|
0.00034
|
NM_003680.4(YARS1):c.505C>T (p.Leu169=)
|
rs149741618
|
0.00029
|
NM_003680.4(YARS1):c.510+10G>C
|
rs201272488
|
0.00024
|
NM_003680.4(YARS1):c.60G>A (p.Glu20=)
|
rs143712443
|
0.00024
|
NM_003680.4(YARS1):c.1228G>A (p.Val410Met)
|
rs146393022
|
0.00020
|
NM_003680.4(YARS1):c.1002A>G (p.Lys334=)
|
rs551640148
|
0.00013
|
NM_003680.4(YARS1):c.1333A>G (p.Ile445Val)
|
rs76862302
|
0.00013
|
NM_003680.4(YARS1):c.58-7A>T
|
rs376765281
|
0.00012
|
NM_003680.4(YARS1):c.63T>C (p.Val21=)
|
rs138749370
|
0.00012
|
NM_003680.4(YARS1):c.1348C>T (p.Arg450Cys)
|
rs141955005
|
0.00011
|
NM_003680.4(YARS1):c.*680A>G
|
rs536402126
|
0.00009
|
NM_003680.4(YARS1):c.347A>T (p.Lys116Met)
|
rs148823175
|
0.00009
|
NM_003680.4(YARS1):c.*399G>A
|
rs890588915
|
0.00007
|
NM_003680.4(YARS1):c.1275C>T (p.Asn425=)
|
rs778718842
|
0.00007
|
NM_003680.4(YARS1):c.*369G>A
|
rs879511403
|
0.00006
|
NM_003680.4(YARS1):c.1143C>T (p.His381=)
|
rs139745541
|
0.00006
|
NM_003680.4(YARS1):c.1246C>A (p.Gln416Lys)
|
rs76611863
|
0.00006
|
NM_003680.4(YARS1):c.1349G>A (p.Arg450His)
|
rs147005844
|
0.00006
|
NM_003680.4(YARS1):c.1570G>C (p.Gly524Arg)
|
rs141974881
|
0.00006
|
NM_003680.4(YARS1):c.546A>G (p.Gln182=)
|
rs751440666
|
0.00006
|
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)
|
rs138454151
|
0.00006
|
NM_003680.4(YARS1):c.681A>G (p.Glu227=)
|
rs370095798
|
0.00005
|
NM_003680.4(YARS1):c.989C>A (p.Thr330Asn)
|
rs568526224
|
0.00005
|
NM_003680.4(YARS1):c.1257G>A (p.Leu419=)
|
rs141675786
|
0.00004
|
NM_003680.4(YARS1):c.1435G>A (p.Glu479Lys)
|
rs142142194
|
0.00004
|
NM_003680.4(YARS1):c.221C>T (p.Ala74Val)
|
rs1429267110
|
0.00004
|
NM_003680.4(YARS1):c.414C>T (p.Ser138=)
|
rs762551221
|
0.00004
|
NM_003680.4(YARS1):c.483G>C (p.Leu161=)
|
rs780528629
|
0.00004
|
NM_003680.4(YARS1):c.507G>A (p.Leu169=)
|
rs200278380
|
0.00004
|
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085
|
0.00003
|
NM_003680.4(YARS1):c.1154A>C (p.Asp385Ala)
|
rs1057524362
|
0.00003
|
NM_003680.4(YARS1):c.1179C>T (p.Asp393=)
|
rs373909518
|
0.00003
|
NM_003680.4(YARS1):c.1405del (p.Phe468_Val469insTer)
|
rs777156625
|
0.00003
|
NM_003680.4(YARS1):c.1448C>T (p.Pro483Leu)
|
rs769592872
|
0.00003
|
NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr)
|
rs778099655
|
0.00003
|
NM_003680.4(YARS1):c.1575G>A (p.Gly525=)
|
rs943186269
|
0.00003
|
NM_003680.4(YARS1):c.205-19C>T
|
rs768703124
|
0.00003
|
NM_003680.4(YARS1):c.211A>G (p.Ile71Val)
|
rs145768628
|
0.00003
|
NM_003680.4(YARS1):c.298G>A (p.Val100Met)
|
rs766704849
|
0.00003
|
NM_003680.4(YARS1):c.362C>G (p.Thr121Ser)
|
rs748842928
|
0.00003
|
NM_003680.4(YARS1):c.381-6C>T
|
rs376982377
|
0.00003
|
NM_003680.4(YARS1):c.511-10C>T
|
rs376935793
|
0.00003
|
NM_003680.4(YARS1):c.569A>G (p.Lys190Arg)
|
rs750198437
|
0.00003
|
NM_003680.4(YARS1):c.937G>A (p.Val313Ile)
|
rs147074773
|
0.00003
|
NM_003680.4(YARS1):c.1042+3A>C
|
rs772446297
|
0.00002
|
NM_003680.4(YARS1):c.1080A>G (p.Pro360=)
|
rs752514117
|
0.00002
|
NM_003680.4(YARS1):c.1140+18C>T
|
rs772357565
|
0.00002
|
NM_003680.4(YARS1):c.1141-9C>G
|
rs761211081
|
0.00002
|
NM_003680.4(YARS1):c.1212C>T (p.Ser404=)
|
rs778469199
|
0.00002
|
NM_003680.4(YARS1):c.1227C>A (p.Phe409Leu)
|
rs763636325
|
0.00002
|
NM_003680.4(YARS1):c.1243C>A (p.Leu415Met)
|
rs774750132
|
0.00002
|
NM_003680.4(YARS1):c.1303G>A (p.Glu435Lys)
|
rs777567617
|
0.00002
|
NM_003680.4(YARS1):c.1487A>G (p.Lys496Arg)
|
rs768160751
|
0.00002
|
NM_003680.4(YARS1):c.1506C>T (p.Ile502=)
|
rs749596742
|
0.00002
|
NM_003680.4(YARS1):c.209C>T (p.Thr70Ile)
|
rs771657997
|
0.00002
|
NM_003680.4(YARS1):c.213T>A (p.Ile71=)
|
rs778295682
|
0.00002
|
NM_003680.4(YARS1):c.260G>A (p.Trp87Ter)
|
rs776952611
|
0.00002
|
NM_003680.4(YARS1):c.310A>G (p.Met104Val)
|
rs763185222
|
0.00002
|
NM_003680.4(YARS1):c.380+13T>C
|
rs1226490373
|
0.00002
|
NM_003680.4(YARS1):c.415G>A (p.Val139Met)
|
rs772729857
|
0.00002
|
NM_003680.4(YARS1):c.684+3A>G
|
rs375332060
|
0.00002
|
NM_003680.4(YARS1):c.*724T>C
|
rs950577466
|
0.00001
|
NM_003680.4(YARS1):c.1012A>G (p.Ser338Gly)
|
rs763921769
|
0.00001
|
NM_003680.4(YARS1):c.1014C>G (p.Ser338Arg)
|
rs142035566
|
0.00001
|
NM_003680.4(YARS1):c.102G>A (p.Arg34=)
|
rs779620591
|
0.00001
|
NM_003680.4(YARS1):c.1049T>C (p.Met350Thr)
|
rs1490757097
|
0.00001
|
NM_003680.4(YARS1):c.1059C>T (p.Gly353=)
|
rs1220249736
|
0.00001
|
NM_003680.4(YARS1):c.1079C>A (p.Pro360Gln)
|
rs562054969
|
0.00001
|
NM_003680.4(YARS1):c.1100G>A (p.Arg367Gln)
|
rs762473756
|
0.00001
|
NM_003680.4(YARS1):c.1128C>T (p.Ile376=)
|
rs777332870
|
0.00001
|
NM_003680.4(YARS1):c.1140+6C>T
|
rs1653037113
|
0.00001
|
NM_003680.4(YARS1):c.1141-15G>A
|
rs576746700
|
0.00001
|
NM_003680.4(YARS1):c.1141-19T>C
|
rs1454139632
|
0.00001
|
NM_003680.4(YARS1):c.1141-4G>A
|
rs1227789369
|
0.00001
|
NM_003680.4(YARS1):c.1159C>T (p.Leu387=)
|
rs759944936
|
0.00001
|
NM_003680.4(YARS1):c.1180G>A (p.Val394Met)
|
rs863224717
|
0.00001
|
NM_003680.4(YARS1):c.1197A>G (p.Pro399=)
|
rs768603403
|
0.00001
|
NM_003680.4(YARS1):c.1199G>A (p.Arg400Gln)
|
rs746892773
|
0.00001
|
NM_003680.4(YARS1):c.1207G>A (p.Val403Met)
|
rs745651845
|
0.00001
|
NM_003680.4(YARS1):c.1245G>A (p.Leu415=)
|
rs1162746032
|
0.00001
|
NM_003680.4(YARS1):c.1266G>T (p.Val422=)
|
rs772014071
|
0.00001
|
NM_003680.4(YARS1):c.126G>A (p.Thr42=)
|
rs765715989
|
0.00001
|
NM_003680.4(YARS1):c.1334+17A>C
|
rs754110699
|
0.00001
|
NM_003680.4(YARS1):c.1335-4C>G
|
rs747647475
|
0.00001
|
NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu)
|
rs762042274
|
0.00001
|
NM_003680.4(YARS1):c.1415A>G (p.Tyr472Cys)
|
rs1214337748
|
0.00001
|
NM_003680.4(YARS1):c.1494T>C (p.Ser498=)
|
rs746559511
|
0.00001
|
NM_003680.4(YARS1):c.1503C>T (p.Cys501=)
|
rs145242872
|
0.00001
|
NM_003680.4(YARS1):c.1531A>G (p.Met511Val)
|
rs1569696187
|
0.00001
|
NM_003680.4(YARS1):c.1543G>A (p.Gly515Ser)
|
rs879254282
|
0.00001
|
NM_003680.4(YARS1):c.1549A>G (p.Ile517Val)
|
rs371220818
|
0.00001
|
NM_003680.4(YARS1):c.1584C>G (p.Ser528Arg)
|
rs774884649
|
0.00001
|
NM_003680.4(YARS1):c.166A>G (p.Met56Val)
|
rs141115281
|
0.00001
|
NM_003680.4(YARS1):c.176T>C (p.Ile59Thr)
|
rs774466323
|
0.00001
|
NM_003680.4(YARS1):c.181G>A (p.Asp61Asn)
|
rs776582429
|
0.00001
|
NM_003680.4(YARS1):c.190A>C (p.Lys64Gln)
|
rs1322723317
|
0.00001
|
NM_003680.4(YARS1):c.231C>T (p.His77=)
|
rs748789799
|
0.00001
|
NM_003680.4(YARS1):c.240G>A (p.Leu80=)
|
rs1205355927
|
0.00001
|
NM_003680.4(YARS1):c.277C>T (p.Arg93Ter)
|
rs781579762
|
0.00001
|
NM_003680.4(YARS1):c.322A>G (p.Ile108Val)
|
rs1467446637
|
0.00001
|
NM_003680.4(YARS1):c.363T>C (p.Thr121=)
|
rs1201696018
|
0.00001
|
NM_003680.4(YARS1):c.391C>T (p.Leu131=)
|
rs759430430
|
0.00001
|
NM_003680.4(YARS1):c.429C>T (p.His143=)
|
rs11544325
|
0.00001
|
NM_003680.4(YARS1):c.477T>C (p.Pro159=)
|
rs183753979
|
0.00001
|
NM_003680.4(YARS1):c.492C>T (p.Leu164=)
|
rs531812632
|
0.00001
|
NM_003680.4(YARS1):c.499C>A (p.Pro167Thr)
|
rs1279417718
|
0.00001
|
NM_003680.4(YARS1):c.501C>T (p.Pro167=)
|
rs555572061
|
0.00001
|
NM_003680.4(YARS1):c.502G>A (p.Gly168Arg)
|
rs1473184666
|
0.00001
|
NM_003680.4(YARS1):c.511-18A>G
|
rs748245322
|
0.00001
|
NM_003680.4(YARS1):c.557T>C (p.Ile186Thr)
|
rs766166915
|
0.00001
|
NM_003680.4(YARS1):c.58-2A>G
|
rs371699331
|
0.00001
|
NM_003680.4(YARS1):c.591+9C>T
|
rs776230316
|
0.00001
|
NM_003680.4(YARS1):c.592-6T>A
|
rs200233400
|
0.00001
|
NM_003680.4(YARS1):c.602C>T (p.Ala201Val)
|
rs1380442148
|
0.00001
|
NM_003680.4(YARS1):c.620G>A (p.Arg207Gln)
|
rs371267865
|
0.00001
|
NM_003680.4(YARS1):c.642G>A (p.Met214Ile)
|
rs930469813
|
0.00001
|
NM_003680.4(YARS1):c.684+10C>T
|
rs769981139
|
0.00001
|
NM_003680.4(YARS1):c.922G>T (p.Asp308Tyr)
|
rs1207371448
|
0.00001
|
NM_003680.4(YARS1):c.977A>G (p.Glu326Gly)
|
rs1433806469
|
0.00001
|
NC_000001.10:g.(?_33241582)_(33256875_?)del
|
|
|
NC_000001.10:g.(?_33246629)_(33248160_?)del
|
|
|
NC_000001.10:g.(?_33247985)_(33248160_?)del
|
|
|
NC_000001.10:g.(?_33251953)_(33252686_?)del
|
|
|
NC_000001.10:g.(?_33256743)_(33272232_?)del
|
|
|
NC_000001.10:g.(?_33276172)_(33276678_?)del
|
|
|
NC_000001.10:g.(?_33276172)_(33282845_?)dup
|
|
|
NC_000001.11:g.(?_32775971)_(32797853_?)dup
|
|
|
NC_000001.11:g.(?_32810581)_(32811067_?)del
|
|
|
NC_000001.11:g.(?_32810591)_(32811057_?)del
|
|
|
NM_003680.4(YARS1):c.1005_1006insT (p.Leu336fs)
|
rs2148601348
|
|
NM_003680.4(YARS1):c.1005del (p.Lys335fs)
|
rs1653090321
|
|
NM_003680.4(YARS1):c.1010C>G (p.Ala337Gly)
|
|
|
NM_003680.4(YARS1):c.1014C>T (p.Ser338=)
|
rs142035566
|
|
NM_003680.4(YARS1):c.101G>A (p.Arg34Gln)
|
|
|
NM_003680.4(YARS1):c.1033T>G (p.Ser345Ala)
|
|
|
NM_003680.4(YARS1):c.1042+20G>A
|
|
|
NM_003680.4(YARS1):c.1042+6G>A
|
rs1653088376
|
|
NM_003680.4(YARS1):c.1042A>G (p.Lys348Glu)
|
rs2148601296
|
|
NM_003680.4(YARS1):c.1043-17G>A
|
rs1410832392
|
|
NM_003680.4(YARS1):c.1043-19G>A
|
|
|
NM_003680.4(YARS1):c.1048A>G (p.Met350Val)
|
rs1553122785
|
|
NM_003680.4(YARS1):c.1078C>G (p.Pro360Ala)
|
|
|
NM_003680.4(YARS1):c.1086G>C (p.Glu362Asp)
|
|
|
NM_003680.4(YARS1):c.1094del (p.Pro365fs)
|
rs1413975578
|
|
NM_003680.4(YARS1):c.1095A>G (p.Pro365=)
|
rs2148600495
|
|
NM_003680.4(YARS1):c.1117G>A (p.Gly373Arg)
|
rs764584188
|
|
NM_003680.4(YARS1):c.1118_1135dup (p.Val378_Glu379insGlyLysIleIleThrVal)
|
|
|
NM_003680.4(YARS1):c.1122A>G (p.Lys374=)
|
|
|
NM_003680.4(YARS1):c.1124T>A (p.Ile375Asn)
|
|
|
NM_003680.4(YARS1):c.112del (p.Ile38fs)
|
rs771840678
|
|
NM_003680.4(YARS1):c.1137G>A (p.Glu379=)
|
|
|
NM_003680.4(YARS1):c.1138A>C (p.Lys380Gln)
|
rs1405248711
|
|
NM_003680.4(YARS1):c.1140+13C>G
|
|
|
NM_003680.4(YARS1):c.1140+4C>G
|
|
|
NM_003680.4(YARS1):c.1141-13C>T
|
rs558667909
|
|
NM_003680.4(YARS1):c.1141-16C>T
|
|
|
NM_003680.4(YARS1):c.1141-8C>T
|
rs1298391875
|
|
NM_003680.4(YARS1):c.1149T>C (p.Asp383=)
|
rs772261295
|
|
NM_003680.4(YARS1):c.1165G>A (p.Val389Ile)
|
|
|
NM_003680.4(YARS1):c.1175T>C (p.Ile392Thr)
|
rs749411607
|
|
NM_003680.4(YARS1):c.1181T>G (p.Val394Gly)
|
rs2148599987
|
|
NM_003680.4(YARS1):c.1182G>T (p.Val394=)
|
|
|
NM_003680.4(YARS1):c.1185G>A (p.Gly395=)
|
|
|
NM_003680.4(YARS1):c.1190C>G (p.Ala397Gly)
|
rs2148599973
|
|
NM_003680.4(YARS1):c.1190C>T (p.Ala397Val)
|
|
|
NM_003680.4(YARS1):c.1195C>T (p.Pro399Ser)
|
|
|
NM_003680.4(YARS1):c.1198C>T (p.Arg400Trp)
|
rs1179946635
|
|
NM_003680.4(YARS1):c.1204G>A (p.Val402Met)
|
|
|
NM_003680.4(YARS1):c.1218G>A (p.Leu406=)
|
rs699005
|
|
NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)
|
rs121908833
|
|
NM_003680.4(YARS1):c.1222C>T (p.Gln408Ter)
|
|
|
NM_003680.4(YARS1):c.1224G>A (p.Gln408=)
|
|
|
NM_003680.4(YARS1):c.1227C>T (p.Phe409=)
|
rs763636325
|
|
NM_003680.4(YARS1):c.122G>A (p.Gly41Glu)
|
rs1569778143
|
|
NM_003680.4(YARS1):c.1249G>A (p.Asp417Asn)
|
|
|
NM_003680.4(YARS1):c.1252A>G (p.Arg418Gly)
|
rs2148599905
|
|
NM_003680.4(YARS1):c.1255C>T (p.Leu419=)
|
|
|
NM_003680.4(YARS1):c.125C>T (p.Thr42Met)
|
|
|
NM_003680.4(YARS1):c.1261G>A (p.Val421Met)
|
|
|
NM_003680.4(YARS1):c.1263G>T (p.Val421=)
|
rs775335977
|
|
NM_003680.4(YARS1):c.1276del (p.Asn425_Leu426insTer)
|
rs764028295
|
|
NM_003680.4(YARS1):c.1281dup (p.Pro428fs)
|
rs1653003533
|
|
NM_003680.4(YARS1):c.1285C>T (p.Gln429Ter)
|
|
|
NM_003680.4(YARS1):c.1298G>T (p.Gly433Val)
|
rs2148599873
|
|
NM_003680.4(YARS1):c.130A>G (p.Thr44Ala)
|
rs1638571973
|
|
NM_003680.4(YARS1):c.1324T>G (p.Cys442Gly)
|
|
|
NM_003680.4(YARS1):c.1328C>A (p.Ala443Asp)
|
|
|
NM_003680.4(YARS1):c.1330T>G (p.Ser444Ala)
|
rs2148599848
|
|
NM_003680.4(YARS1):c.1334+18G>A
|
rs1653001069
|
|
NM_003680.4(YARS1):c.1335-17G>C
|
|
|
NM_003680.4(YARS1):c.1335-8C>G
|
rs1569705339
|
|
NM_003680.4(YARS1):c.1337A>T (p.Glu446Val)
|
|
|
NM_003680.4(YARS1):c.1349G>C (p.Arg450Pro)
|
rs147005844
|
|
NM_003680.4(YARS1):c.1349G>T (p.Arg450Leu)
|
|
|
NM_003680.4(YARS1):c.1353G>C (p.Gln451His)
|
|
|
NM_003680.4(YARS1):c.135G>A (p.Thr45=)
|
rs549109061
|
|
NM_003680.4(YARS1):c.1361C>T (p.Pro454Leu)
|
rs1569705205
|
|
NM_003680.4(YARS1):c.1385C>G (p.Ala462Gly)
|
|
|
NM_003680.4(YARS1):c.1387C>G (p.Pro463Ala)
|
rs1230021901
|
|
NM_003680.4(YARS1):c.138C>T (p.Gly46=)
|
|
|
NM_003680.4(YARS1):c.1396C>G (p.His466Asp)
|
|
|
NM_003680.4(YARS1):c.1400T>G (p.Val467Gly)
|
|
|
NM_003680.4(YARS1):c.1407G>A (p.Val469=)
|
rs377419078
|
|
NM_003680.4(YARS1):c.1407G>T (p.Val469=)
|
rs377419078
|
|
NM_003680.4(YARS1):c.140A>G (p.Lys47Arg)
|
|
|
NM_003680.4(YARS1):c.1418A>G (p.Glu473Gly)
|
rs770972459
|
|
NM_003680.4(YARS1):c.1433A>T (p.Asp478Val)
|
|
|
NM_003680.4(YARS1):c.1435GAG[1] (p.Glu480del)
|
|
|
NM_003680.4(YARS1):c.1439A>G (p.Glu480Gly)
|
|
|
NM_003680.4(YARS1):c.1443C>G (p.Leu481=)
|
|
|
NM_003680.4(YARS1):c.1451A>G (p.Lys484Arg)
|
|
|
NM_003680.4(YARS1):c.1464C>T (p.Phe488=)
|
rs780574093
|
|
NM_003680.4(YARS1):c.1471T>C (p.Leu491=)
|
rs140841549
|
|
NM_003680.4(YARS1):c.1476+17G>T
|
|
|
NM_003680.4(YARS1):c.1476+20C>T
|
|
|
NM_003680.4(YARS1):c.1476+2T>C
|
rs1553122620
|
|
NM_003680.4(YARS1):c.1477-22CT[2]
|
|
|
NM_003680.4(YARS1):c.1480G>A (p.Asp494Asn)
|
rs367622240
|
|
NM_003680.4(YARS1):c.1487A>C (p.Lys496Thr)
|
rs768160751
|
|
NM_003680.4(YARS1):c.1507G>C (p.Ala503Pro)
|
|
|
NM_003680.4(YARS1):c.1507G>T (p.Ala503Ser)
|
rs778099655
|
|
NM_003680.4(YARS1):c.1514G>A (p.Trp505Ter)
|
rs1553122276
|
|
NM_003680.4(YARS1):c.1523C>A (p.Thr508Asn)
|
|
|
NM_003680.4(YARS1):c.1523C>T (p.Thr508Ile)
|
|
|
NM_003680.4(YARS1):c.1527C>T (p.Asn509=)
|
rs1557442867
|
|
NM_003680.4(YARS1):c.1563G>A (p.Ser521=)
|
|
|
NM_003680.4(YARS1):c.1568A>G (p.Lys523Arg)
|
|
|
NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala)
|
rs201687117
|
|
NM_003680.4(YARS1):c.1571G>T (p.Gly524Val)
|
rs201687117
|
|
NM_003680.4(YARS1):c.1574G>A (p.Gly525Glu)
|
rs774982567
|
|
NM_003680.4(YARS1):c.1577A>T (p.Asn526Ile)
|
rs771633110
|
|
NM_003680.4(YARS1):c.1579A>G (p.Ile527Val)
|
|
|
NM_003680.4(YARS1):c.161T>C (p.Val54Ala)
|
|
|
NM_003680.4(YARS1):c.167T>C (p.Met56Thr)
|
|
|
NM_003680.4(YARS1):c.177T>G (p.Ile59Met)
|
rs1240096439
|
|
NM_003680.4(YARS1):c.178G>A (p.Ala60Thr)
|
rs367649729
|
|
NM_003680.4(YARS1):c.194_202del (p.Ala65_Cys67del)
|
rs2148616655
|
|
NM_003680.4(YARS1):c.204+12T>C
|
|
|
NM_003680.4(YARS1):c.204+16A>C
|
|
|
NM_003680.4(YARS1):c.204+16A>G
|
rs372773941
|
|
NM_003680.4(YARS1):c.205-11C>T
|
|
|
NM_003680.4(YARS1):c.205-16C>T
|
|
|
NM_003680.4(YARS1):c.205-17C>T
|
|
|
NM_003680.4(YARS1):c.205-18C>T
|
|
|
NM_003680.4(YARS1):c.205-2A>G
|
rs538137948
|
|
NM_003680.4(YARS1):c.206dup (p.Thr70fs)
|
|
|
NM_003680.4(YARS1):c.209C>G (p.Thr70Arg)
|
rs771657997
|
|
NM_003680.4(YARS1):c.214C>A (p.Leu72Met)
|
|
|
NM_003680.4(YARS1):c.232G>A (p.Ala78Thr)
|
rs778307213
|
|
NM_003680.4(YARS1):c.233C>G (p.Ala78Gly)
|
|
|
NM_003680.4(YARS1):c.241G>C (p.Asp81His)
|
rs587777891
|
|
NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile)
|
rs786204003
|
|
NM_003680.4(YARS1):c.244A>G (p.Asn82Asp)
|
|
|
NM_003680.4(YARS1):c.248T>C (p.Met83Thr)
|
|
|
NM_003680.4(YARS1):c.265C>T (p.Leu89Phe)
|
rs2148616548
|
|
NM_003680.4(YARS1):c.270A>G (p.Leu90=)
|
rs1569777416
|
|
NM_003680.4(YARS1):c.271G>C (p.Glu91Gln)
|
|
|
NM_003680.4(YARS1):c.290A>G (p.Tyr97Cys)
|
rs1360212575
|
|
NM_003680.4(YARS1):c.294G>A (p.Glu98=)
|
|
|
NM_003680.4(YARS1):c.294G>C (p.Glu98Asp)
|
rs146442827
|
|
NM_003680.4(YARS1):c.303C>T (p.Ile101=)
|
rs2148616521
|
|
NM_003680.4(YARS1):c.326G>A (p.Gly109Asp)
|
rs1638562641
|
|
NM_003680.4(YARS1):c.330G>A (p.Val110=)
|
|
|
NM_003680.4(YARS1):c.331C>T (p.Pro111Ser)
|
|
|
NM_003680.4(YARS1):c.347A>G (p.Lys116Arg)
|
rs148823175
|
|
NM_003680.4(YARS1):c.380+13T>G
|
|
|
NM_003680.4(YARS1):c.380+19A>G
|
rs961597385
|
|
NM_003680.4(YARS1):c.380+4A>G
|
rs1638561575
|
|
NM_003680.4(YARS1):c.381-11T>A
|
|
|
NM_003680.4(YARS1):c.381-11_381-7del
|
rs2148615001
|
|
NM_003680.4(YARS1):c.381-9C>T
|
|
|
NM_003680.4(YARS1):c.386A>G (p.Tyr129Cys)
|
|
|
NM_003680.4(YARS1):c.389C>T (p.Thr130Ile)
|
|
|
NM_003680.4(YARS1):c.395A>T (p.Asp132Val)
|
rs2148614994
|
|
NM_003680.4(YARS1):c.397G>A (p.Val133Met)
|
|
|
NM_003680.4(YARS1):c.410C>G (p.Ser137Cys)
|
rs770608909
|
|
NM_003680.4(YARS1):c.414C>G (p.Ser138=)
|
|
|
NM_003680.4(YARS1):c.416T>C (p.Val139Ala)
|
|
|
NM_003680.4(YARS1):c.424C>A (p.Gln142Lys)
|
rs1470898248
|
|
NM_003680.4(YARS1):c.424C>T (p.Gln142Ter)
|
|
|
NM_003680.4(YARS1):c.425A>G (p.Gln142Arg)
|
rs1638471229
|
|
NM_003680.4(YARS1):c.426G>A (p.Gln142=)
|
|
|
NM_003680.4(YARS1):c.432T>C (p.Asp144=)
|
rs2148614959
|
|
NM_003680.4(YARS1):c.440A>C (p.Lys147Thr)
|
rs769290451
|
|
NM_003680.4(YARS1):c.451G>A (p.Glu151Lys)
|
rs2148614952
|
|
NM_003680.4(YARS1):c.457G>A (p.Val153Ile)
|
|
|
NM_003680.4(YARS1):c.458_469del (p.Val153_Val156del)
|
rs786200893
|
|
NM_003680.4(YARS1):c.462G>A (p.Lys154=)
|
|
|
NM_003680.4(YARS1):c.466G>A (p.Val156Met)
|
|
|
NM_003680.4(YARS1):c.466G>T (p.Val156Leu)
|
rs781752618
|
|
NM_003680.4(YARS1):c.468G>T (p.Val156=)
|
rs2148614943
|
|
NM_003680.4(YARS1):c.471G>A (p.Glu157=)
|
rs1569769936
|
|
NM_003680.4(YARS1):c.471G>C (p.Glu157Asp)
|
|
|
NM_003680.4(YARS1):c.488G>T (p.Gly163Val)
|
rs1638469949
|
|
NM_003680.4(YARS1):c.497A>G (p.Tyr166Cys)
|
rs2148614924
|
|
NM_003680.4(YARS1):c.501C>G (p.Pro167=)
|
rs555572061
|
|
NM_003680.4(YARS1):c.501del (p.Gly168fs)
|
|
|
NM_003680.4(YARS1):c.510+12G>A
|
|
|
NM_003680.4(YARS1):c.511-14G>A
|
rs1057515513
|
|
NM_003680.4(YARS1):c.511-16G>A
|
|
|
NM_003680.4(YARS1):c.511-3C>G
|
|
|
NM_003680.4(YARS1):c.523G>T (p.Glu175Ter)
|
rs1553124472
|
|
NM_003680.4(YARS1):c.542C>A (p.Ala181Asp)
|
rs1191925938
|
|
NM_003680.4(YARS1):c.560A>G (p.Asp187Gly)
|
rs1653653041
|
|
NM_003680.4(YARS1):c.564G>C (p.Gln188His)
|
|
|
NM_003680.4(YARS1):c.579C>T (p.Thr193=)
|
rs1344194115
|
|
NM_003680.4(YARS1):c.58-4A>G
|
|
|
NM_003680.4(YARS1):c.58-5A>C
|
rs2148616729
|
|
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)
|
rs121908834
|
|
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)
|
rs121908834
|
|
NM_003680.4(YARS1):c.587A>G (p.Glu196Gly)
|
rs2148610315
|
|
NM_003680.4(YARS1):c.591+17C>T
|
|
|
NM_003680.4(YARS1):c.591+20T>C
|
|
|
NM_003680.4(YARS1):c.591+3G>C
|
rs2148610311
|
|
NM_003680.4(YARS1):c.591+4_591+7del
|
|
|
NM_003680.4(YARS1):c.592-10A>C
|
rs1569732722
|
|
NM_003680.4(YARS1):c.592-11dup
|
|
|
NM_003680.4(YARS1):c.602C>G (p.Ala201Gly)
|
rs1380442148
|
|
NM_003680.4(YARS1):c.619C>T (p.Arg207Trp)
|
rs1653403342
|
|
NM_003680.4(YARS1):c.621G>C (p.Arg207=)
|
rs960541646
|
|
NM_003680.4(YARS1):c.622G>A (p.Val208Ile)
|
|
|
NM_003680.4(YARS1):c.631A>T (p.Met211Leu)
|
rs1426757940
|
|
NM_003680.4(YARS1):c.640A>G (p.Met214Val)
|
|
|
NM_003680.4(YARS1):c.642G>C (p.Met214Ile)
|
|
|
NM_003680.4(YARS1):c.644T>C (p.Val215Ala)
|
rs2148606461
|
|
NM_003680.4(YARS1):c.64C>T (p.Leu22=)
|
|
|
NM_003680.4(YARS1):c.662G>A (p.Ser221Asn)
|
rs1653401735
|
|
NM_003680.4(YARS1):c.670A>G (p.Ser224Gly)
|
|
|
NM_003680.4(YARS1):c.675T>A (p.Ser225=)
|
rs2148606439
|
|
NM_003680.4(YARS1):c.684+18A>G
|
|
|
NM_003680.4(YARS1):c.76A>G (p.Lys26Glu)
|
|
|
NM_003680.4(YARS1):c.88A>T (p.Ile30Leu)
|
|
|
NM_003680.4(YARS1):c.907-11C>T
|
|
|
NM_003680.4(YARS1):c.907-19G>A
|
|
|
NM_003680.4(YARS1):c.907-4G>A
|
|
|
NM_003680.4(YARS1):c.907-7T>G
|
|
|
NM_003680.4(YARS1):c.910G>T (p.Val304Leu)
|
rs2148601486
|
|
NM_003680.4(YARS1):c.92T>C (p.Leu31Pro)
|
rs781102946
|
|
NM_003680.4(YARS1):c.930G>A (p.Lys310=)
|
rs781622921
|
|
NM_003680.4(YARS1):c.945C>A (p.Val315=)
|
|
|
NM_003680.4(YARS1):c.945C>T (p.Val315=)
|
|
|
NM_003680.4(YARS1):c.970A>G (p.Ile324Val)
|
|
|
NM_003680.4(YARS1):c.973C>T (p.Arg325Trp)
|
|
|
NM_003680.4(YARS1):c.978A>C (p.Glu326Asp)
|
rs1423244532
|
|
NM_003680.4(YARS1):c.978A>G (p.Glu326=)
|
|
|
NM_003680.4(YARS1):c.986A>G (p.Asn329Ser)
|
|
|
NM_003680.4(YARS1):c.990C>A (p.Thr330=)
|
|
|
NM_003680.4(YARS1):c.992C>G (p.Pro331Arg)
|
|
|
NM_003680.4(YARS1):c.996C>T (p.Ala332=)
|
rs1003798493
|
|