ClinVar Miner

List of variants in gene AARS1 studied for Charcot-Marie-Tooth disease type 2

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Gene type:
ClinVar version:
Total variants: 1335
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_001605.3(AARS1):c.671+3A>G rs74024185 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_001605.3(AARS1):c.962+18T>C rs149761815 0.00391
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_001605.3(AARS1):c.2608-6C>A rs200965527 0.00088
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00081
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001605.3(AARS1):c.2369A>T (p.Asp790Val) rs555357914 0.00072
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_001605.3(AARS1):c.2178-14G>A rs371633904 0.00045
NM_001605.3(AARS1):c.1428G>C (p.Arg476=) rs80257731 0.00041
NM_001605.3(AARS1):c.2722-16C>T rs373540049 0.00040
NM_001605.3(AARS1):c.741G>A (p.Leu247=) rs148075561 0.00038
NM_001605.3(AARS1):c.480-9C>T rs376371821 0.00034
NM_001605.3(AARS1):c.966T>C (p.Tyr322=) rs145859060 0.00034
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met) rs148383122 0.00030
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) rs147187788 0.00030
NM_001605.3(AARS1):c.1839C>T (p.Phe613=) rs141374386 0.00024
NM_001605.3(AARS1):c.480-12C>G rs199728312 0.00024
NM_001605.3(AARS1):c.2217C>T (p.Ile739=) rs770980206 0.00022
NM_001605.3(AARS1):c.2275G>A (p.Glu759Lys) rs137894161 0.00022
NM_001605.3(AARS1):c.2721+8C>T rs577958349 0.00021
NM_001605.3(AARS1):c.2520+19A>G rs376619331 0.00020
NM_001605.3(AARS1):c.1493-7T>C rs376087556 0.00019
NM_001605.3(AARS1):c.2817G>A (p.Gln939=) rs140048586 0.00019
NM_001605.3(AARS1):c.561C>T (p.Cys187=) rs78523270 0.00019
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) rs140135726 0.00018
NM_001605.3(AARS1):c.2521-10T>C rs199521984 0.00016
NM_001605.3(AARS1):c.480-8T>C rs751472610 0.00016
NM_001605.3(AARS1):c.1108A>G (p.Met370Val) rs199976742 0.00014
NM_001605.3(AARS1):c.128A>G (p.Asn43Ser) rs748803390 0.00014
NM_001605.3(AARS1):c.1938C>G (p.Thr646=) rs147822575 0.00014
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu) rs150873930 0.00013
NM_001605.3(AARS1):c.2287-16C>T rs375747367 0.00013
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala) rs370622071 0.00013
NM_001605.3(AARS1):c.480-17C>T rs372467445 0.00013
NM_001605.3(AARS1):c.744A>G (p.Val248=) rs752618189 0.00013
NM_001605.3(AARS1):c.1671+10C>T rs184240527 0.00012
NM_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665 0.00012
NM_001605.3(AARS1):c.962+12G>C rs376863001 0.00012
NM_001605.3(AARS1):c.1509G>A (p.Val503=) rs138406510 0.00011
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234 0.00010
NM_001605.3(AARS1):c.1410C>T (p.Ile470=) rs79785372 0.00010
NM_001605.3(AARS1):c.1740C>T (p.Tyr580=) rs777419181 0.00010
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser) rs371595630 0.00010
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663 0.00010
NM_001605.3(AARS1):c.333+3A>C rs747431164 0.00010
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser) rs199997425 0.00010
NM_001605.3(AARS1):c.962+16A>G rs768846274 0.00010
NM_001605.3(AARS1):c.2182C>T (p.Leu728=) rs761565869 0.00009
NM_001605.3(AARS1):c.2401-16C>T rs372138128 0.00009
NM_001605.3(AARS1):c.2770T>G (p.Ser924Ala) rs766897796 0.00009
NM_001605.3(AARS1):c.525C>T (p.Phe175=) rs369147317 0.00009
NM_001605.3(AARS1):c.1222+7A>T rs200591546 0.00008
NM_001605.3(AARS1):c.1222+7_1222+8insTTGC rs372280293 0.00008
NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr) rs141486562 0.00008
NM_001605.3(AARS1):c.1722A>G (p.Leu574=) rs140678149 0.00008
NM_001605.3(AARS1):c.2105C>T (p.Pro702Leu) rs776471315 0.00008
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe) rs527414180 0.00007
NM_001605.3(AARS1):c.1140G>A (p.Val380=) rs149055899 0.00007
NM_001605.3(AARS1):c.1671+7C>T rs747794570 0.00007
NM_001605.3(AARS1):c.1689G>A (p.Val563=) rs536370318 0.00007
NM_001605.3(AARS1):c.2286+18G>A rs780996918 0.00007
NM_001605.3(AARS1):c.58A>G (p.Arg20Gly) rs770697148 0.00007
NM_001605.3(AARS1):c.622G>A (p.Asp208Asn) rs780893599 0.00007
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys) rs138490305 0.00007
NM_001605.3(AARS1):c.1344C>T (p.Ala448=) rs920455151 0.00006
NM_001605.3(AARS1):c.1399A>G (p.Ile467Val) rs376215607 0.00006
NM_001605.3(AARS1):c.1546G>C (p.Val516Leu) rs143844046 0.00006
NM_001605.3(AARS1):c.1878C>T (p.Gly626=) rs752673097 0.00006
NM_001605.3(AARS1):c.1996G>A (p.Val666Ile) rs374254987 0.00006
NM_001605.3(AARS1):c.2028G>A (p.Ala676=) rs376280288 0.00006
NM_001605.3(AARS1):c.479+12C>T rs201596086 0.00006
NM_001605.3(AARS1):c.597C>T (p.Asp199=) rs371595834 0.00006
NM_001605.3(AARS1):c.865G>A (p.Asp289Asn) rs764718265 0.00006
NM_001605.3(AARS1):c.940C>T (p.Arg314Trp) rs753667245 0.00006
NM_001605.3(AARS1):c.951C>T (p.Asn317=) rs763632935 0.00006
NM_001605.3(AARS1):c.1367G>T (p.Gly456Val) rs879254125 0.00005
NM_001605.3(AARS1):c.1395G>A (p.Leu465=) rs890095859 0.00005
NM_001605.3(AARS1):c.177A>G (p.Pro59=) rs758674184 0.00005
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) rs372221218 0.00005
NM_001605.3(AARS1):c.2025A>G (p.Ala675=) rs745695764 0.00005
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_001605.3(AARS1):c.2223G>A (p.Thr741=) rs375400530 0.00005
NM_001605.3(AARS1):c.37C>T (p.Arg13Ter) rs761931081 0.00005
NM_001605.3(AARS1):c.418G>A (p.Gly140Arg) rs200438841 0.00005
NM_001605.3(AARS1):c.894G>A (p.Leu298=) rs776027503 0.00005
NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser) rs371184292 0.00004
NM_001605.3(AARS1):c.1361G>T (p.Gly454Val) rs761208550 0.00004
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp) rs377163632 0.00004
NM_001605.3(AARS1):c.145-17C>T rs375832841 0.00004
NM_001605.3(AARS1):c.1528C>T (p.Arg510Cys) rs369797061 0.00004
NM_001605.3(AARS1):c.1786-5T>C rs77814513 0.00004
NM_001605.3(AARS1):c.1897C>T (p.Arg633Cys) rs758423103 0.00004
NM_001605.3(AARS1):c.1992+15G>A rs368023282 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001605.3(AARS1):c.2532G>A (p.Lys844=) rs371712914 0.00004
NM_001605.3(AARS1):c.2548G>A (p.Asp850Asn) rs772849771 0.00004
NM_001605.3(AARS1):c.2552G>A (p.Ser851Asn) rs368011194 0.00004
NM_001605.3(AARS1):c.2681A>G (p.Asn894Ser) rs775024070 0.00004
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 0.00004
NM_001605.3(AARS1):c.343T>C (p.Cys115Arg) rs773582597 0.00004
NM_001605.3(AARS1):c.592C>T (p.Arg198Trp) rs753033177 0.00004
NM_001605.3(AARS1):c.601G>A (p.Ala201Thr) rs760716722 0.00004
NM_001605.3(AARS1):c.849T>C (p.Val283=) rs773866431 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_001605.3(AARS1):c.1060G>A (p.Val354Ile) rs762395098 0.00003
NM_001605.3(AARS1):c.1219C>A (p.Pro407Thr) rs139618202 0.00003
NM_001605.3(AARS1):c.1221C>T (p.Pro407=) rs199547987 0.00003
NM_001605.3(AARS1):c.1244A>G (p.Tyr415Cys) rs373069396 0.00003
NM_001605.3(AARS1):c.1275T>C (p.Thr425=) rs750552137 0.00003
NM_001605.3(AARS1):c.1347G>A (p.Gln449=) rs200557581 0.00003
NM_001605.3(AARS1):c.1348-9T>C rs201538906 0.00003
NM_001605.3(AARS1):c.1421G>A (p.Arg474Gln) rs202036345 0.00003
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile) rs771059047 0.00003
NM_001605.3(AARS1):c.1789C>T (p.Arg597Ter) rs768830699 0.00003
NM_001605.3(AARS1):c.1847G>A (p.Arg616His) rs781270199 0.00003
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 0.00003
NM_001605.3(AARS1):c.2046A>G (p.Leu682=) rs757898507 0.00003
NM_001605.3(AARS1):c.2193G>C (p.Ser731=) rs746349849 0.00003
NM_001605.3(AARS1):c.2218G>C (p.Val740Leu) rs749217453 0.00003
NM_001605.3(AARS1):c.2249G>A (p.Arg750Gln) rs1383041194 0.00003
NM_001605.3(AARS1):c.2306G>C (p.Ser769Thr) rs377051192 0.00003
NM_001605.3(AARS1):c.2324C>T (p.Ser775Phe) rs372602483 0.00003
NM_001605.3(AARS1):c.2485T>C (p.Leu829=) rs760816488 0.00003
NM_001605.3(AARS1):c.2722-12C>T rs781277357 0.00003
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser) rs746822330 0.00003
NM_001605.3(AARS1):c.2752G>A (p.Glu918Lys) rs778342335 0.00003
NM_001605.3(AARS1):c.391G>A (p.Glu131Lys) rs769706358 0.00003
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) rs763378637 0.00003
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) rs765398055 0.00003
NM_001605.3(AARS1):c.525C>G (p.Phe175Leu) rs369147317 0.00003
NM_001605.3(AARS1):c.542C>G (p.Thr181Arg) rs202099051 0.00003
NM_001605.3(AARS1):c.713T>C (p.Ile238Thr) rs372680730 0.00003
NM_001605.3(AARS1):c.937G>A (p.Gly313Ser) rs141331431 0.00003
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422 0.00002
NM_001605.3(AARS1):c.1064A>G (p.Gln355Arg) rs1597441035 0.00002
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg) rs769182022 0.00002
NM_001605.3(AARS1):c.1432C>G (p.Leu478Val) rs767099595 0.00002
NM_001605.3(AARS1):c.145-4T>G rs771322532 0.00002
NM_001605.3(AARS1):c.1529G>A (p.Arg510His) rs202176955 0.00002
NM_001605.3(AARS1):c.1645G>A (p.Val549Met) rs558645844 0.00002
NM_001605.3(AARS1):c.1704C>T (p.Val568=) rs757658801 0.00002
NM_001605.3(AARS1):c.1881A>G (p.Ser627=) rs1486965038 0.00002
NM_001605.3(AARS1):c.1936A>G (p.Thr646Ala) rs763252550 0.00002
NM_001605.3(AARS1):c.2003C>T (p.Thr668Ile) rs773483658 0.00002
NM_001605.3(AARS1):c.2070T>C (p.Tyr690=) rs754266971 0.00002
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu) rs754391789 0.00002
NM_001605.3(AARS1):c.2178-17T>C rs758490328 0.00002
NM_001605.3(AARS1):c.2287-15G>A rs774569911 0.00002
NM_001605.3(AARS1):c.2361A>C (p.Pro787=) rs768782095 0.00002
NM_001605.3(AARS1):c.2401-15G>A rs763386228 0.00002
NM_001605.3(AARS1):c.2446C>T (p.Arg816Trp) rs778478316 0.00002
NM_001605.3(AARS1):c.2460A>T (p.Lys820Asn) rs759906749 0.00002
NM_001605.3(AARS1):c.2505C>T (p.Ala835=) rs769571173 0.00002
NM_001605.3(AARS1):c.2547C>T (p.Ile849=) rs746615745 0.00002
NM_001605.3(AARS1):c.2593G>A (p.Gly865Ser) rs757295540 0.00002
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr) rs374478964 0.00002
NM_001605.3(AARS1):c.2603C>T (p.Ala868Val) rs759415214 0.00002
NM_001605.3(AARS1):c.2754G>A (p.Glu918=) rs754523456 0.00002
NM_001605.3(AARS1):c.278A>G (p.Tyr93Cys) rs1251929931 0.00002
NM_001605.3(AARS1):c.333+17A>G rs370831078 0.00002
NM_001605.3(AARS1):c.360A>G (p.Glu120=) rs1175499706 0.00002
NM_001605.3(AARS1):c.366C>T (p.Leu122=) rs769023747 0.00002
NM_001605.3(AARS1):c.618G>T (p.Gln206His) rs139785247 0.00002
NM_001605.3(AARS1):c.630T>C (p.Asn210=) rs561149621 0.00002
NM_001605.3(AARS1):c.671+12T>C rs375862322 0.00002
NM_001605.3(AARS1):c.732G>A (p.Leu244=) rs967485459 0.00002
NM_001605.3(AARS1):c.80A>G (p.His27Arg) rs77753666 0.00002
NM_001605.3(AARS1):c.817-7T>C rs770186013 0.00002
NM_001605.3(AARS1):c.823G>A (p.Gly275Ser) rs747142680 0.00002
NM_001605.3(AARS1):c.828C>G (p.Ala276=) rs914414911 0.00002
NM_001605.3(AARS1):c.84G>A (p.Ser28=) rs781488034 0.00002
NM_001605.3(AARS1):c.95T>C (p.Ile32Thr) rs751721557 0.00002
NM_001605.3(AARS1):c.1002C>T (p.Tyr334=) rs753317193 0.00001
NM_001605.3(AARS1):c.1003G>A (p.Ala335Thr) rs765846298 0.00001
NM_001605.3(AARS1):c.1007A>G (p.His336Arg) rs1025002934 0.00001
NM_001605.3(AARS1):c.1008T>C (p.His336=) rs1374423400 0.00001
NM_001605.3(AARS1):c.1059C>T (p.Val353=) rs1054385792 0.00001
NM_001605.3(AARS1):c.1067C>T (p.Ser356Phe) rs771898925 0.00001
NM_001605.3(AARS1):c.1073G>T (p.Gly358Val) rs370368784 0.00001
NM_001605.3(AARS1):c.1075G>A (p.Asp359Asn) rs1130535 0.00001
NM_001605.3(AARS1):c.1079C>G (p.Ala360Gly) rs561829699 0.00001
NM_001605.3(AARS1):c.1093A>G (p.Lys365Glu) rs774143119 0.00001
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile) rs1468385890 0.00001
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val) rs142128800 0.00001
NM_001605.3(AARS1):c.1168C>T (p.Arg390Cys) rs759713590 0.00001
NM_001605.3(AARS1):c.1220C>A (p.Pro407His) rs770557635 0.00001
NM_001605.3(AARS1):c.1230T>C (p.Thr410=) rs748544878 0.00001
NM_001605.3(AARS1):c.1261C>G (p.Pro421Ala) rs1157450521 0.00001
NM_001605.3(AARS1):c.1284T>A (p.Ile428=) rs1210163050 0.00001
NM_001605.3(AARS1):c.1285G>A (p.Ala429Thr) rs1446399906 0.00001
NM_001605.3(AARS1):c.1302G>A (p.Leu434=) rs752566988 0.00001
NM_001605.3(AARS1):c.1306G>A (p.Val436Ile) rs561137479 0.00001
NM_001605.3(AARS1):c.1334G>T (p.Arg445Met) rs776515117 0.00001
NM_001605.3(AARS1):c.1347+10T>C rs1424574012 0.00001
NM_001605.3(AARS1):c.1347+14A>T rs915904032 0.00001
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr) rs1597439359 0.00001
NM_001605.3(AARS1):c.1398C>T (p.Asp466=) rs770132954 0.00001
NM_001605.3(AARS1):c.1419C>G (p.Leu473=) rs375571275 0.00001
NM_001605.3(AARS1):c.1426C>T (p.Arg476Trp) rs780059987 0.00001
NM_001605.3(AARS1):c.1435G>A (p.Glu479Lys) rs146082956 0.00001
NM_001605.3(AARS1):c.1437G>A (p.Glu479=) rs751074806 0.00001
NM_001605.3(AARS1):c.1493-10C>T rs529835734 0.00001
NM_001605.3(AARS1):c.1504A>G (p.Thr502Ala) rs758003106 0.00001
NM_001605.3(AARS1):c.1514C>T (p.Thr505Met) rs755492122 0.00001
NM_001605.3(AARS1):c.1533G>A (p.Arg511=) rs375230340 0.00001
NM_001605.3(AARS1):c.1536G>A (p.Glu512=) rs774309980 0.00001
NM_001605.3(AARS1):c.1537A>C (p.Lys513Gln) rs1960156160 0.00001
NM_001605.3(AARS1):c.1554G>A (p.Glu518=) rs746835558 0.00001
NM_001605.3(AARS1):c.155T>C (p.Ile52Thr) rs200582917 0.00001
NM_001605.3(AARS1):c.1561A>G (p.Thr521Ala) rs369465026 0.00001
NM_001605.3(AARS1):c.1578A>G (p.Gly526=) rs376138540 0.00001
NM_001605.3(AARS1):c.1588G>A (p.Asp530Asn) rs1479302877 0.00001
NM_001605.3(AARS1):c.1604A>G (p.Tyr535Cys) rs756650948 0.00001
NM_001605.3(AARS1):c.1624A>T (p.Ile542Phe) rs572187967 0.00001
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys) rs764124393 0.00001
NM_001605.3(AARS1):c.1650G>A (p.Lys550=) rs770856423 0.00001
NM_001605.3(AARS1):c.1656T>C (p.Asp552=) rs148659998 0.00001
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile) rs144982168 0.00001
NM_001605.3(AARS1):c.1672-10C>T rs1245852151 0.00001
NM_001605.3(AARS1):c.1672-5C>T rs371238822 0.00001
NM_001605.3(AARS1):c.1672-7C>G rs1294076779 0.00001
NM_001605.3(AARS1):c.169A>G (p.Ile57Val) rs372131127 0.00001
NM_001605.3(AARS1):c.170T>C (p.Ile57Thr) rs567262501 0.00001
NM_001605.3(AARS1):c.1726A>C (p.Ile576Leu) rs755027471 0.00001
NM_001605.3(AARS1):c.1727T>C (p.Ile576Thr) rs753863962 0.00001
NM_001605.3(AARS1):c.1764G>C (p.Gln588His) rs771478786 0.00001
NM_001605.3(AARS1):c.176C>T (p.Pro59Leu) rs1337985053 0.00001
NM_001605.3(AARS1):c.1785+16G>C rs375451856 0.00001
NM_001605.3(AARS1):c.1790G>A (p.Arg597Gln) rs777597230 0.00001
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr) rs1319699374 0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) rs1597435885 0.00001
NM_001605.3(AARS1):c.1840G>T (p.Ala614Ser) rs780198710 0.00001
NM_001605.3(AARS1):c.1882T>C (p.Leu628=) rs200896501 0.00001
NM_001605.3(AARS1):c.1894G>C (p.Asp632His) rs765977339 0.00001
NM_001605.3(AARS1):c.1907T>G (p.Phe636Cys) rs766999932 0.00001
NM_001605.3(AARS1):c.1943A>G (p.Gln648Arg) rs746047868 0.00001
NM_001605.3(AARS1):c.1949A>G (p.Lys650Arg) rs142233951 0.00001
NM_001605.3(AARS1):c.1962G>A (p.Glu654=) rs1291557995 0.00001
NM_001605.3(AARS1):c.1992+11C>T rs756739953 0.00001
NM_001605.3(AARS1):c.1992+14C>T rs945873486 0.00001
NM_001605.3(AARS1):c.1993-9G>C rs1410746723 0.00001
NM_001605.3(AARS1):c.1995C>T (p.Ala665=) rs754212203 0.00001
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala) rs145056270 0.00001
NM_001605.3(AARS1):c.2017C>T (p.Leu673=) rs762839576 0.00001
NM_001605.3(AARS1):c.2019G>C (p.Leu673=) rs775476419 0.00001
NM_001605.3(AARS1):c.2027C>T (p.Ala676Val) rs371114066 0.00001
NM_001605.3(AARS1):c.2047C>T (p.Arg683Trp) rs866956348 0.00001
NM_001605.3(AARS1):c.2048G>A (p.Arg683Gln) rs371048516 0.00001
NM_001605.3(AARS1):c.2079T>C (p.Pro693=) rs766834986 0.00001
NM_001605.3(AARS1):c.2083C>T (p.Arg695Ter) rs761043713 0.00001
NM_001605.3(AARS1):c.2084G>A (p.Arg695Gln) rs377378009 0.00001
NM_001605.3(AARS1):c.2095A>T (p.Ile699Phe) rs1427798398 0.00001
NM_001605.3(AARS1):c.2103C>T (p.Val701=) rs1476539357 0.00001
NM_001605.3(AARS1):c.2106G>A (p.Pro702=) rs746709009 0.00001
NM_001605.3(AARS1):c.2109G>C (p.Val703=) rs777499923 0.00001
NM_001605.3(AARS1):c.2112C>T (p.Ser704=) rs936240936 0.00001
NM_001605.3(AARS1):c.2118G>C (p.Leu706Phe) rs201097032 0.00001
NM_001605.3(AARS1):c.2119C>T (p.Leu707=) rs1597435214 0.00001
NM_001605.3(AARS1):c.2130C>T (p.Pro710=) rs780604407 0.00001
NM_001605.3(AARS1):c.2137C>T (p.Pro713Ser) rs750769245 0.00001
NM_001605.3(AARS1):c.2154T>G (p.Thr718=) rs1410315443 0.00001
NM_001605.3(AARS1):c.2177+1G>A rs766251338 0.00001
NM_001605.3(AARS1):c.2178-7C>T rs773114681 0.00001
NM_001605.3(AARS1):c.2191T>G (p.Ser731Ala) rs139720461 0.00001
NM_001605.3(AARS1):c.2199T>C (p.His733=) rs781647738 0.00001
NM_001605.3(AARS1):c.2238C>T (p.Ala746=) rs767405300 0.00001
NM_001605.3(AARS1):c.2267C>T (p.Thr756Ile) rs769394060 0.00001
NM_001605.3(AARS1):c.226A>G (p.Ile76Val) rs1274784611 0.00001
NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg) rs1224948634 0.00001
NM_001605.3(AARS1):c.2287-13T>G rs553083906 0.00001
NM_001605.3(AARS1):c.2288C>T (p.Ala763Val) rs777776042 0.00001
NM_001605.3(AARS1):c.2326G>C (p.Val776Leu) rs373664027 0.00001
NM_001605.3(AARS1):c.2335G>A (p.Ala779Thr) rs767954906 0.00001
NM_001605.3(AARS1):c.2385C>T (p.Ile795=) rs1283711323 0.00001
NM_001605.3(AARS1):c.2395G>A (p.Gly799Arg) rs1161734697 0.00001
NM_001605.3(AARS1):c.2396G>T (p.Gly799Val) rs1959931902 0.00001
NM_001605.3(AARS1):c.2400+8C>T rs113824201 0.00001
NM_001605.3(AARS1):c.2401-17T>C rs1200891254 0.00001
NM_001605.3(AARS1):c.2403C>G (p.Ala801=) rs771133578 0.00001
NM_001605.3(AARS1):c.2409C>T (p.Ala803=) rs1329271301 0.00001
NM_001605.3(AARS1):c.2412T>C (p.Thr804=) rs761717573 0.00001
NM_001605.3(AARS1):c.2440G>A (p.Glu814Lys) rs533029846 0.00001
NM_001605.3(AARS1):c.2453C>T (p.Thr818Ile) rs753158346 0.00001
NM_001605.3(AARS1):c.2478G>A (p.Met826Ile) rs1385044712 0.00001
NM_001605.3(AARS1):c.2491C>T (p.Arg831Ter) rs1959913185 0.00001
NM_001605.3(AARS1):c.2518C>T (p.Arg840Ter) rs1173826571 0.00001
NM_001605.3(AARS1):c.2521-5T>G rs1555539335 0.00001
NM_001605.3(AARS1):c.2535G>A (p.Thr845=) rs770634653 0.00001
NM_001605.3(AARS1):c.2562C>G (p.Asn854Lys) rs1260237711 0.00001
NM_001605.3(AARS1):c.2569C>G (p.Leu857Val) rs780261077 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001605.3(AARS1):c.2608-17C>T rs955702969 0.00001
NM_001605.3(AARS1):c.2611C>T (p.Leu871=) rs777889928 0.00001
NM_001605.3(AARS1):c.2628G>C (p.Lys876Asn) rs758488318 0.00001
NM_001605.3(AARS1):c.2629C>G (p.Leu877Val) rs1959893208 0.00001
NM_001605.3(AARS1):c.2665C>T (p.Leu889Phe) rs751242154 0.00001
NM_001605.3(AARS1):c.267C>T (p.Gly89=) rs1960568594 0.00001
NM_001605.3(AARS1):c.2686G>A (p.Ala896Thr) rs1295851671 0.00001
NM_001605.3(AARS1):c.2721+3C>G rs1318032456 0.00001
NM_001605.3(AARS1):c.2735G>A (p.Arg912Gln) rs777686119 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001605.3(AARS1):c.2835T>C (p.Val945=) rs1192286853 0.00001
NM_001605.3(AARS1):c.2845C>G (p.Gln949Glu) rs375263515 0.00001
NM_001605.3(AARS1):c.284A>C (p.His95Pro) rs764793550 0.00001
NM_001605.3(AARS1):c.288C>T (p.Thr96=) rs1373682530 0.00001
NM_001605.3(AARS1):c.295G>A (p.Glu99Lys) rs777170136 0.00001
NM_001605.3(AARS1):c.310T>C (p.Trp104Arg) rs1057520616 0.00001
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter) rs1398433261 0.00001
NM_001605.3(AARS1):c.417C>T (p.Gly139=) rs758260278 0.00001
NM_001605.3(AARS1):c.479+5G>T rs1487772006 0.00001
NM_001605.3(AARS1):c.482T>C (p.Leu161Pro) rs1960417011 0.00001
NM_001605.3(AARS1):c.498C>T (p.Ile166=) rs999924082 0.00001
NM_001605.3(AARS1):c.506G>A (p.Gly169Asp) rs1362856733 0.00001
NM_001605.3(AARS1):c.510C>A (p.Asn170Lys) rs775904247 0.00001
NM_001605.3(AARS1):c.540C>T (p.Asp180=) rs1486931495 0.00001
NM_001605.3(AARS1):c.549C>G (p.Pro183=) rs749065539 0.00001
NM_001605.3(AARS1):c.56A>G (p.Lys19Arg) rs776616726 0.00001
NM_001605.3(AARS1):c.576C>T (p.Tyr192=) rs930696946 0.00001
NM_001605.3(AARS1):c.577G>A (p.Asp193Asn) rs376700046 0.00001
NM_001605.3(AARS1):c.580C>T (p.Arg194Trp) rs764675357 0.00001
NM_001605.3(AARS1):c.581G>A (p.Arg194Gln) rs1033300766 0.00001
NM_001605.3(AARS1):c.5A>G (p.Asp2Gly) rs1485992879 0.00001
NM_001605.3(AARS1):c.620A>G (p.Asp207Gly) rs1960410669 0.00001
NM_001605.3(AARS1):c.634C>T (p.Leu212=) rs777378111 0.00001
NM_001605.3(AARS1):c.63C>T (p.Asn21=) rs773045737 0.00001
NM_001605.3(AARS1):c.642C>A (p.Ile214=) rs758977241 0.00001
NM_001605.3(AARS1):c.663G>C (p.Gln221His) rs1028028699 0.00001
NM_001605.3(AARS1):c.704A>G (p.Lys235Arg) rs755350912 0.00001
NM_001605.3(AARS1):c.70A>C (p.Thr24Pro) rs768158204 0.00001
NM_001605.3(AARS1):c.71C>T (p.Thr24Met) rs1227942516 0.00001
NM_001605.3(AARS1):c.720_721del (p.Gly241fs) rs977976041 0.00001
NM_001605.3(AARS1):c.726G>A (p.Met242Ile) rs780360628 0.00001
NM_001605.3(AARS1):c.72G>A (p.Thr24=) rs780609058 0.00001
NM_001605.3(AARS1):c.751C>T (p.Leu251=) rs375106256 0.00001
NM_001605.3(AARS1):c.760A>C (p.Lys254Gln) rs770790585 0.00001
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu) rs1374950172 0.00001
NM_001605.3(AARS1):c.816+10C>G rs780413612 0.00001
NM_001605.3(AARS1):c.817-20C>T rs761335139 0.00001
NM_001605.3(AARS1):c.817-4A>G rs746210439 0.00001
NM_001605.3(AARS1):c.81C>T (p.His27=) rs750765656 0.00001
NM_001605.3(AARS1):c.829C>T (p.Arg277Ter) rs200032881 0.00001
NM_001605.3(AARS1):c.835T>C (p.Tyr279His) rs1232484436 0.00001
NM_001605.3(AARS1):c.837C>T (p.Tyr279=) rs201865481 0.00001
NM_001605.3(AARS1):c.848T>C (p.Val283Ala) rs761545263 0.00001
NM_001605.3(AARS1):c.864C>T (p.Ala288=) rs765247500 0.00001
NM_001605.3(AARS1):c.886C>T (p.Arg296Trp) rs1225401608 0.00001
NM_001605.3(AARS1):c.889G>C (p.Val297Leu) rs1329713999 0.00001
NM_001605.3(AARS1):c.8C>G (p.Ser3Cys) rs946227383 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_001605.3(AARS1):c.907C>T (p.Arg303Trp) rs1302363015 0.00001
NM_001605.3(AARS1):c.919G>A (p.Val307Met) rs1316227824 0.00001
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala) rs886052256 0.00001
NM_001605.3(AARS1):c.935G>A (p.Gly312Asp) rs777824151 0.00001
NM_001605.3(AARS1):c.952A>G (p.Thr318Ala) rs868291701 0.00001
NM_001605.3(AARS1):c.957G>A (p.Gly319=) rs762546700 0.00001
NM_001605.3(AARS1):c.962+15C>T rs779150762 0.00001
NM_001605.3(AARS1):c.963-6T>C rs768897279 0.00001
NM_001605.3(AARS1):c.963A>G (p.Gly321=) rs775592737 0.00001
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) rs777601008 0.00001
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) rs758183257 0.00001
NM_001605.3(AARS1):c.998G>A (p.Arg333Gln) rs778511459 0.00001
NM_001605.3(AARS1):c.9T>G (p.Ser3=) rs539360231 0.00001
NC_000016.10:g.(?_70264948)_(70282773_?)del
NC_000016.10:g.(?_70267649)_(70268389_?)del
NC_000016.10:g.(?_70267649)_(70271982_?)del
NC_000016.9:g.(?_70286604)_(70296447_?)dup
NC_000016.9:g.(?_70286614)_(70296437_?)dup
NC_000016.9:g.(?_70286624)_(70293109_?)del
NC_000016.9:g.(?_70286624)_(70296447_?)dup
NC_000016.9:g.(?_70286624)_(70304263_?)del
NC_000016.9:g.(?_70286624)_(70305895_?)del
NC_000016.9:g.(?_70286624)_(70316666_?)dup
NC_000016.9:g.(?_70289611)_(70293109_?)dup
NC_000016.9:g.(?_70294927)_(70311077_?)del
NC_000016.9:g.(?_70301542)_(70301732_?)del
NC_000016.9:g.(?_70301542)_(70305895_?)del
NC_000016.9:g.(?_70310369)_(70311077_?)del
NC_000016.9:g.(?_70310369)_(70311077_?)dup
NC_000016.9:g.(?_70310369)_(70316666_?)del
NC_000016.9:g.(?_70310369)_(70316686_?)dup
NC_000016.9:g.(?_70310389)_(70316666_?)dup
NM_001605.3(AARS1):c.1002del (p.Arg333_Tyr334insTer)
NM_001605.3(AARS1):c.1006C>T (p.His336Tyr) rs756594937
NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys) rs2152160733
NM_001605.3(AARS1):c.100T>C (p.Leu34=)
NM_001605.3(AARS1):c.1012A>G (p.Lys338Glu) rs1960315664
NM_001605.3(AARS1):c.1026C>G (p.Ser342Arg)
NM_001605.3(AARS1):c.1027A>G (p.Arg343Gly) rs1960315228
NM_001605.3(AARS1):c.1029G>T (p.Arg343Ser)
NM_001605.3(AARS1):c.1032del (p.Phe345fs)
NM_001605.3(AARS1):c.1033T>A (p.Phe345Ile)
NM_001605.3(AARS1):c.1035C>T (p.Phe345=)
NM_001605.3(AARS1):c.1036T>C (p.Phe346Leu) rs765790521
NM_001605.3(AARS1):c.1041T>C (p.Ala347=)
NM_001605.3(AARS1):c.1042A>G (p.Thr348Ala) rs1483525127
NM_001605.3(AARS1):c.1044G>A (p.Thr348=) rs181264712
NM_001605.3(AARS1):c.1049T>C (p.Val350Ala)
NM_001605.3(AARS1):c.104A>T (p.Asp35Val)
NM_001605.3(AARS1):c.1050G>A (p.Val350=)
NM_001605.3(AARS1):c.1055T>G (p.Val352Gly) rs1597441040
NM_001605.3(AARS1):c.105T>C (p.Asp35=)
NM_001605.3(AARS1):c.1060G>T (p.Val354Phe) rs762395098
NM_001605.3(AARS1):c.1065G>T (p.Gln355His) rs1960314004
NM_001605.3(AARS1):c.1068C>G (p.Ser356=)
NM_001605.3(AARS1):c.1071+15C>A rs1310673800
NM_001605.3(AARS1):c.1071+15C>T
NM_001605.3(AARS1):c.1071+1G>A rs2152160643
NM_001605.3(AARS1):c.1071+5G>T
NM_001605.3(AARS1):c.1072-10C>A
NM_001605.3(AARS1):c.1072-10C>T
NM_001605.3(AARS1):c.1072-12C>T
NM_001605.3(AARS1):c.1072-15C>A
NM_001605.3(AARS1):c.1072-16G>A
NM_001605.3(AARS1):c.1072-18T>C
NM_001605.3(AARS1):c.1072-3C>G
NM_001605.3(AARS1):c.1074A>C (p.Gly358=)
NM_001605.3(AARS1):c.1074A>T (p.Gly358=) rs1555541137
NM_001605.3(AARS1):c.1076A>C (p.Asp359Ala)
NM_001605.3(AARS1):c.1076A>G (p.Asp359Gly) rs1960298879
NM_001605.3(AARS1):c.1078G>C (p.Ala360Pro) rs761669458
NM_001605.3(AARS1):c.1082T>G (p.Phe361Cys) rs2152160274
NM_001605.3(AARS1):c.1083T>C (p.Phe361=) rs2152160273
NM_001605.3(AARS1):c.1084C>T (p.Pro362Ser)
NM_001605.3(AARS1):c.1085C>G (p.Pro362Arg)
NM_001605.3(AARS1):c.108C>T (p.Asp36=)
NM_001605.3(AARS1):c.109C>T (p.Pro37Ser) rs1005079274
NM_001605.3(AARS1):c.10A>G (p.Thr4Ala)
NM_001605.3(AARS1):c.1106A>T (p.Asp369Val) rs2152160238
NM_001605.3(AARS1):c.110C>T (p.Pro37Leu)
NM_001605.3(AARS1):c.1114A>G (p.Lys372Glu)
NM_001605.3(AARS1):c.111dup (p.Thr38fs) rs1597448762
NM_001605.3(AARS1):c.1122C>T (p.Ile374=) rs752057589
NM_001605.3(AARS1):c.1123A>G (p.Ile375Val)
NM_001605.3(AARS1):c.1125T>C (p.Ile375=)
NM_001605.3(AARS1):c.1127A>G (p.Asn376Ser)
NM_001605.3(AARS1):c.1129G>A (p.Glu377Lys) rs2152160216
NM_001605.3(AARS1):c.112A>T (p.Thr38Ser)
NM_001605.3(AARS1):c.113C>T (p.Thr38Ile) rs761574997
NM_001605.3(AARS1):c.1140_1141delinsAT (p.Gln381Ter)
NM_001605.3(AARS1):c.1143G>A (p.Gln381=) rs778064460
NM_001605.3(AARS1):c.1149C>G (p.Leu383=)
NM_001605.3(AARS1):c.1150A>C (p.Lys384Gln) rs1597440683
NM_001605.3(AARS1):c.1154C>T (p.Thr385Ile)
NM_001605.3(AARS1):c.1155T>G (p.Thr385=)
NM_001605.3(AARS1):c.1167G>T (p.Gly389=) rs1960296503
NM_001605.3(AARS1):c.1169G>A (p.Arg390His) rs1465496890
NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)
NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys) rs147580372
NM_001605.3(AARS1):c.1172G>A (p.Arg391His)
NM_001605.3(AARS1):c.1174A>G (p.Ile392Val)
NM_001605.3(AARS1):c.1178T>A (p.Leu393Gln)
NM_001605.3(AARS1):c.117G>A (p.Leu39=)
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr) rs2152160177
NM_001605.3(AARS1):c.1184G>A (p.Arg395Lys)
NM_001605.3(AARS1):c.118C>T (p.Leu40Phe) rs1350361999
NM_001605.3(AARS1):c.1191T>G (p.Ile397Met) rs2152160165
NM_001605.3(AARS1):c.1192C>G (p.Gln398Glu)
NM_001605.3(AARS1):c.1196G>A (p.Ser399Asn)
NM_001605.3(AARS1):c.1197C>T (p.Ser399=)
NM_001605.3(AARS1):c.11C>A (p.Thr4Asn)
NM_001605.3(AARS1):c.11C>T (p.Thr4Ile) rs1335517508
NM_001605.3(AARS1):c.11_15del (p.Thr4fs) rs1211684571
NM_001605.3(AARS1):c.1200G>T (p.Leu400=)
NM_001605.3(AARS1):c.1206C>T (p.Asp402=)
NM_001605.3(AARS1):c.1209C>G (p.Ser403Arg)
NM_001605.3(AARS1):c.1209C>T (p.Ser403=) rs769521539
NM_001605.3(AARS1):c.120C>T (p.Leu40=) rs2152170372
NM_001605.3(AARS1):c.1215C>T (p.Thr405=)
NM_001605.3(AARS1):c.1216A>T (p.Ile406Phe)
NM_001605.3(AARS1):c.1222+16del rs748889882
NM_001605.3(AARS1):c.1222+17G>A rs755205317
NM_001605.3(AARS1):c.1222+18C>T
NM_001605.3(AARS1):c.1222+19C>T
NM_001605.3(AARS1):c.1222+5_1222+7delinsTTTTTGC rs1960294143
NM_001605.3(AARS1):c.1222+7A>G rs200591546
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.3(AARS1):c.1222G>C (p.Gly408Arg) rs369135192
NM_001605.3(AARS1):c.1222G>T (p.Gly408Ter) rs369135192
NM_001605.3(AARS1):c.1223-12T>C
NM_001605.3(AARS1):c.1223-15C>T
NM_001605.3(AARS1):c.1223-18C>T
NM_001605.3(AARS1):c.1223-9G>T rs2152158800
NM_001605.3(AARS1):c.1227C>T (p.Asp409=)
NM_001605.3(AARS1):c.1233T>C (p.Ala411=)
NM_001605.3(AARS1):c.1243T>A (p.Tyr415Asn)
NM_001605.3(AARS1):c.1244A>C (p.Tyr415Ser)
NM_001605.3(AARS1):c.1251C>G (p.Thr417=)
NM_001605.3(AARS1):c.1254T>C (p.Tyr418=)
NM_001605.3(AARS1):c.1263A>G (p.Pro421=) rs756280590
NM_001605.3(AARS1):c.126C>G (p.Ala42=)
NM_001605.3(AARS1):c.1272G>A (p.Leu424=) rs1412346348
NM_001605.3(AARS1):c.1274C>G (p.Thr425Ser)
NM_001605.3(AARS1):c.1275_1276del (p.Gly426fs) rs1555540896
NM_001605.3(AARS1):c.127A>G (p.Asn43Asp)
NM_001605.3(AARS1):c.1282A>T (p.Ile428Phe)
NM_001605.3(AARS1):c.1283T>G (p.Ile428Ser)
NM_001605.3(AARS1):c.1294A>C (p.Lys432Gln)
NM_001605.3(AARS1):c.1295A>G (p.Lys432Arg)
NM_001605.3(AARS1):c.1297G>A (p.Gly433Ser)
NM_001605.3(AARS1):c.1298G>C (p.Gly433Ala)
NM_001605.3(AARS1):c.1298G>T (p.Gly433Val)
NM_001605.3(AARS1):c.1299C>T (p.Gly433=)
NM_001605.3(AARS1):c.129T>C (p.Asn43=)
NM_001605.3(AARS1):c.1301T>A (p.Leu434Gln) rs1960243047
NM_001605.3(AARS1):c.1302G>C (p.Leu434=)
NM_001605.3(AARS1):c.1305G>T (p.Val435=)
NM_001605.3(AARS1):c.1310A>G (p.Asp437Gly)
NM_001605.3(AARS1):c.1321T>C (p.Phe441Leu)
NM_001605.3(AARS1):c.1330G>T (p.Glu444Ter)
NM_001605.3(AARS1):c.1334G>C (p.Arg445Thr)
NM_001605.3(AARS1):c.133G>A (p.Gly45Ser) rs1960729134
NM_001605.3(AARS1):c.133G>C (p.Gly45Arg)
NM_001605.3(AARS1):c.1347+10T>A
NM_001605.3(AARS1):c.1347+13G>C
NM_001605.3(AARS1):c.1347+16A>G
NM_001605.3(AARS1):c.1347+19G>A
NM_001605.3(AARS1):c.1347+7A>G
NM_001605.3(AARS1):c.1347+9C>T
NM_001605.3(AARS1):c.1348-10T>A rs760431632
NM_001605.3(AARS1):c.1348-10T>C
NM_001605.3(AARS1):c.1348-11C>G rs1332894937
NM_001605.3(AARS1):c.1348-17G>A
NM_001605.3(AARS1):c.1348-20C>G rs371734869
NM_001605.3(AARS1):c.1348-20C>T
NM_001605.3(AARS1):c.1348C>G (p.Leu450Val) rs767096851
NM_001605.3(AARS1):c.1349T>A (p.Leu450Gln)
NM_001605.3(AARS1):c.1355C>T (p.Ser452Leu)
NM_001605.3(AARS1):c.1360G>A (p.Gly454Ser)
NM_001605.3(AARS1):c.1370C>T (p.Ala457Val)
NM_001605.3(AARS1):c.1374T>G (p.Gly458=)
NM_001605.3(AARS1):c.1377G>C (p.Gly459=)
NM_001605.3(AARS1):c.137T>A (p.Met46Lys)
NM_001605.3(AARS1):c.137T>C (p.Met46Thr)
NM_001605.3(AARS1):c.1382A>G (p.Asp461Gly)
NM_001605.3(AARS1):c.1382A>T (p.Asp461Val) rs1195150104
NM_001605.3(AARS1):c.1393C>A (p.Leu465Met)
NM_001605.3(AARS1):c.1393C>G (p.Leu465Val) rs1555540828
NM_001605.3(AARS1):c.1396G>A (p.Asp466Asn)
NM_001605.3(AARS1):c.13C>G (p.Leu5Val)
NM_001605.3(AARS1):c.1406C>T (p.Ala469Val) rs1482868893
NM_001605.3(AARS1):c.1408A>T (p.Ile470Phe) rs879254145
NM_001605.3(AARS1):c.1409T>A (p.Ile470Asn) rs1567605658
NM_001605.3(AARS1):c.1410C>G (p.Ile470Met) rs79785372
NM_001605.3(AARS1):c.1411G>A (p.Glu471Lys)
NM_001605.3(AARS1):c.1417C>T (p.Leu473Phe)
NM_001605.3(AARS1):c.1427G>A (p.Arg476Gln) rs755833227
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser) rs1228135551
NM_001605.3(AARS1):c.1439T>C (p.Val480Ala)
NM_001605.3(AARS1):c.144+12del
NM_001605.3(AARS1):c.144+12dup
NM_001605.3(AARS1):c.144+14C>T rs757604499
NM_001605.3(AARS1):c.144+19T>C
NM_001605.3(AARS1):c.144+4A>G
NM_001605.3(AARS1):c.144+6G>T
NM_001605.3(AARS1):c.144+7G>A
NM_001605.3(AARS1):c.144+8T>C
NM_001605.3(AARS1):c.1441A>C (p.Thr481Pro)
NM_001605.3(AARS1):c.1444G>C (p.Asp482His) rs763513667
NM_001605.3(AARS1):c.144G>C (p.Gln48His)
NM_001605.3(AARS1):c.145-15G>C rs2152167095
NM_001605.3(AARS1):c.145-17C>A
NM_001605.3(AARS1):c.145-18G>T
NM_001605.3(AARS1):c.145-3T>C rs1006628756
NM_001605.3(AARS1):c.1458G>C (p.Lys486Asn)
NM_001605.3(AARS1):c.1461C>T (p.Tyr487=) rs1410121757
NM_001605.3(AARS1):c.1463A>G (p.Asn488Ser)
NM_001605.3(AARS1):c.1463A>T (p.Asn488Ile)
NM_001605.3(AARS1):c.1466A>G (p.Tyr489Cys)
NM_001605.3(AARS1):c.1468C>T (p.His490Tyr)
NM_001605.3(AARS1):c.1469A>G (p.His490Arg)
NM_001605.3(AARS1):c.1479C>T (p.Ser493=)
NM_001605.3(AARS1):c.147T>G (p.Phe49Leu)
NM_001605.3(AARS1):c.1484G>A (p.Gly495Asp)
NM_001605.3(AARS1):c.1488C>T (p.Ser496=) rs1057048498
NM_001605.3(AARS1):c.148A>G (p.Lys50Glu)
NM_001605.3(AARS1):c.1492+10T>A
NM_001605.3(AARS1):c.1492+10TG[3] rs758577376
NM_001605.3(AARS1):c.1492+13G>A rs2152158273
NM_001605.3(AARS1):c.1492+14C>T
NM_001605.3(AARS1):c.1492+15T>C
NM_001605.3(AARS1):c.1492+19T>C rs749277642
NM_001605.3(AARS1):c.1492+3A>T
NM_001605.3(AARS1):c.1492+5G>A rs2152158281
NM_001605.3(AARS1):c.1492+7T>C
NM_001605.3(AARS1):c.1492G>T (p.Val498Leu) rs1960227997
NM_001605.3(AARS1):c.1493-15A>G
NM_001605.3(AARS1):c.1493-19A>G
NM_001605.3(AARS1):c.1493-2A>G
NM_001605.3(AARS1):c.1493-8T>G
NM_001605.3(AARS1):c.1493-9C>A rs780911124
NM_001605.3(AARS1):c.1494A>G (p.Val498=)
NM_001605.3(AARS1):c.1496T>G (p.Phe499Cys)
NM_001605.3(AARS1):c.1499A>G (p.Glu500Gly)
NM_001605.3(AARS1):c.1506A>G (p.Thr502=)
NM_001605.3(AARS1):c.1515G>A (p.Thr505=) rs1057518288
NM_001605.3(AARS1):c.1517T>A (p.Val506Glu)
NM_001605.3(AARS1):c.1519A>G (p.Met507Val) rs1064797212
NM_001605.3(AARS1):c.1523C>G (p.Ala508Gly)
NM_001605.3(AARS1):c.1525C>G (p.Leu509Val) rs761096936
NM_001605.3(AARS1):c.1529G>T (p.Arg510Leu)
NM_001605.3(AARS1):c.1534G>A (p.Glu512Lys)
NM_001605.3(AARS1):c.1534G>C (p.Glu512Gln)
NM_001605.3(AARS1):c.1535AGA[1] (p.Lys513del) rs762162379
NM_001605.3(AARS1):c.1537A>G (p.Lys513Glu)
NM_001605.3(AARS1):c.1538A>C (p.Lys513Thr) rs2152156683
NM_001605.3(AARS1):c.1538A>G (p.Lys513Arg)
NM_001605.3(AARS1):c.1538A>T (p.Lys513Met)
NM_001605.3(AARS1):c.1539G>T (p.Lys513Asn)
NM_001605.3(AARS1):c.153C>T (p.Pro51=) rs1191170313
NM_001605.3(AARS1):c.1545C>A (p.Phe515Leu) rs200578293
NM_001605.3(AARS1):c.1545C>G (p.Phe515Leu)
NM_001605.3(AARS1):c.1545C>T (p.Phe515=)
NM_001605.3(AARS1):c.1546G>A (p.Val516Met) rs143844046
NM_001605.3(AARS1):c.1551A>G (p.Glu517=) rs1597437798
NM_001605.3(AARS1):c.1560C>T (p.Ser520=)
NM_001605.3(AARS1):c.1562C>T (p.Thr521Ile)
NM_001605.3(AARS1):c.1563A>G (p.Thr521=) rs1273011840
NM_001605.3(AARS1):c.1567C>T (p.Gln523Ter)
NM_001605.3(AARS1):c.156T>C (p.Ile52=)
NM_001605.3(AARS1):c.1572G>A (p.Glu524=)
NM_001605.3(AARS1):c.1579G>A (p.Val527Met)
NM_001605.3(AARS1):c.1586T>C (p.Leu529Pro)
NM_001605.3(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.3(AARS1):c.1590C>T (p.Asp530=)
NM_001605.3(AARS1):c.1591A>G (p.Lys531Glu)
NM_001605.3(AARS1):c.1596C>T (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1600_1603del (p.Phe534fs)
NM_001605.3(AARS1):c.1602C>T (p.Phe534=)
NM_001605.3(AARS1):c.1606G>T (p.Ala536Ser) rs1179099210
NM_001605.3(AARS1):c.1612C>A (p.Gln538Lys)
NM_001605.3(AARS1):c.1613A>G (p.Gln538Arg)
NM_001605.3(AARS1):c.1614A>C (p.Gln538His)
NM_001605.3(AARS1):c.1618_1619dup (p.Gln541fs) rs1567604571
NM_001605.3(AARS1):c.1622A>G (p.Gln541Arg)
NM_001605.3(AARS1):c.1628A>G (p.Tyr543Cys)
NM_001605.3(AARS1):c.162G>A (p.Leu54=) rs2152167067
NM_001605.3(AARS1):c.1640A>G (p.Tyr547Cys) rs1328218106
NM_001605.3(AARS1):c.1642C>T (p.Leu548=)
NM_001605.3(AARS1):c.1647G>A (p.Val549=)
NM_001605.3(AARS1):c.1649A>C (p.Lys550Thr)
NM_001605.3(AARS1):c.1651G>A (p.Val551Met) rs1060503691
NM_001605.3(AARS1):c.1654G>T (p.Asp552Tyr)
NM_001605.3(AARS1):c.1657G>A (p.Asp553Asn)
NM_001605.3(AARS1):c.1658A>G (p.Asp553Gly)
NM_001605.3(AARS1):c.1671+12G>C
NM_001605.3(AARS1):c.1671+19C>T
NM_001605.3(AARS1):c.1671+20T>C
NM_001605.3(AARS1):c.1671+8_1671+15del
NM_001605.3(AARS1):c.1671+9A>G rs1013897408
NM_001605.3(AARS1):c.1672-15C>T
NM_001605.3(AARS1):c.1672-7C>T
NM_001605.3(AARS1):c.1676C>T (p.Thr559Ile) rs1960123149
NM_001605.3(AARS1):c.1679_1680del (p.Glu560fs) rs1438690757
NM_001605.3(AARS1):c.1680G>C (p.Glu560Asp) rs863224707
NM_001605.3(AARS1):c.1687G>A (p.Val563Met)
NM_001605.3(AARS1):c.1699C>G (p.Gln567Glu)
NM_001605.3(AARS1):c.1703T>C (p.Val568Ala)
NM_001605.3(AARS1):c.1705C>T (p.Arg569Ter)
NM_001605.3(AARS1):c.1706G>A (p.Arg569Gln)
NM_001605.3(AARS1):c.1709G>T (p.Gly570Val)
NM_001605.3(AARS1):c.1710A>G (p.Gly570=)
NM_001605.3(AARS1):c.1718T>G (p.Val573Gly) rs1167508772
NM_001605.3(AARS1):c.1719G>A (p.Val573=)
NM_001605.3(AARS1):c.1725C>A (p.His575Gln)
NM_001605.3(AARS1):c.1728T>C (p.Ile576=)
NM_001605.3(AARS1):c.1728T>G (p.Ile576Met)
NM_001605.3(AARS1):c.1735A>G (p.Ile579Val) rs1960121476
NM_001605.3(AARS1):c.1735A>T (p.Ile579Phe) rs1960121476
NM_001605.3(AARS1):c.1736T>C (p.Ile579Thr)
NM_001605.3(AARS1):c.1737C>G (p.Ile579Met) rs144323646
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser) rs762734676
NM_001605.3(AARS1):c.1746C>T (p.Asp582=)
NM_001605.3(AARS1):c.1757G>A (p.Gly586Glu)
NM_001605.3(AARS1):c.176C>A (p.Pro59Gln) rs1337985053
NM_001605.3(AARS1):c.1773G>A (p.Leu591=)
NM_001605.3(AARS1):c.1776T>G (p.Phe592Leu)
NM_001605.3(AARS1):c.1778T>C (p.Ile593Thr)
NM_001605.3(AARS1):c.1785+10G>A
NM_001605.3(AARS1):c.1785+10del
NM_001605.3(AARS1):c.1785+20C>T
NM_001605.3(AARS1):c.1785+4A>G rs2152155700
NM_001605.3(AARS1):c.1785+5G>T
NM_001605.3(AARS1):c.1785G>A (p.Glu595=) rs1462458743
NM_001605.3(AARS1):c.1786-17C>A
NM_001605.3(AARS1):c.1786-3C>T
NM_001605.3(AARS1):c.1786-7T>C rs2152154564
NM_001605.3(AARS1):c.1790G>T (p.Arg597Leu) rs777597230
NM_001605.3(AARS1):c.1792C>T (p.Arg598Ter) rs752548366
NM_001605.3(AARS1):c.1793G>A (p.Arg598Gln)
NM_001605.3(AARS1):c.1797A>T (p.Arg599Ser) rs753398944
NM_001605.3(AARS1):c.1799C>A (p.Pro600His) rs1355373452
NM_001605.3(AARS1):c.1809C>T (p.Ser603=)
NM_001605.3(AARS1):c.1813del (p.His605fs)
NM_001605.3(AARS1):c.1819G>A (p.Ala607Thr) rs377247120
NM_001605.3(AARS1):c.1819G>C (p.Ala607Pro)
NM_001605.3(AARS1):c.1822A>T (p.Thr608Ser)
NM_001605.3(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_001605.3(AARS1):c.1824G>C (p.Thr608=) rs199644417
NM_001605.3(AARS1):c.1824G>T (p.Thr608=)
NM_001605.3(AARS1):c.1827C>T (p.His609=)
NM_001605.3(AARS1):c.1828A>G (p.Ile610Val)
NM_001605.3(AARS1):c.182A>G (p.His61Arg)
NM_001605.3(AARS1):c.1836C>T (p.Asn612=) rs1555540045
NM_001605.3(AARS1):c.1837T>C (p.Phe613Leu)
NM_001605.3(AARS1):c.1840G>C (p.Ala614Pro)
NM_001605.3(AARS1):c.1842C>T (p.Ala614=) rs1057521642
NM_001605.3(AARS1):c.1847G>T (p.Arg616Leu)
NM_001605.3(AARS1):c.184C>A (p.Pro62Thr) rs779066703
NM_001605.3(AARS1):c.1851A>G (p.Ser617=)
NM_001605.3(AARS1):c.1852G>T (p.Val618Leu)
NM_001605.3(AARS1):c.1854G>A (p.Val618=) rs2152154469
NM_001605.3(AARS1):c.1855C>T (p.Leu619Phe)
NM_001605.3(AARS1):c.1856T>C (p.Leu619Pro)
NM_001605.3(AARS1):c.1860G>C (p.Gly620=) rs2152154460
NM_001605.3(AARS1):c.1861G>A (p.Glu621Lys)
NM_001605.3(AARS1):c.1864G>C (p.Ala622Pro)
NM_001605.3(AARS1):c.1875A>T (p.Lys625Asn)
NM_001605.3(AARS1):c.1877G>C (p.Gly626Ala) rs2152154443
NM_001605.3(AARS1):c.1877del (p.Gly626fs)
NM_001605.3(AARS1):c.1886T>C (p.Val629Ala)
NM_001605.3(AARS1):c.188T>A (p.Met63Lys)
NM_001605.3(AARS1):c.188T>C (p.Met63Thr)
NM_001605.3(AARS1):c.1898G>A (p.Arg633His)
NM_001605.3(AARS1):c.1902C>T (p.Leu634=) rs2152154407
NM_001605.3(AARS1):c.1904G>C (p.Arg635Thr)
NM_001605.3(AARS1):c.1905A>G (p.Arg635=) rs2152154405
NM_001605.3(AARS1):c.1912T>A (p.Phe638Ile) rs1960068620
NM_001605.3(AARS1):c.1912T>G (p.Phe638Val)
NM_001605.3(AARS1):c.1915A>T (p.Thr639Ser)
NM_001605.3(AARS1):c.1916C>T (p.Thr639Ile)
NM_001605.3(AARS1):c.1921A>G (p.Lys641Glu) rs1960068371
NM_001605.3(AARS1):c.1922A>G (p.Lys641Arg)
NM_001605.3(AARS1):c.1929C>T (p.Ala643=)
NM_001605.3(AARS1):c.1939del (p.Gln647fs)
NM_001605.3(AARS1):c.1947C>G (p.Ile649Met)
NM_001605.3(AARS1):c.1948A>C (p.Lys650Gln) rs573789791
NM_001605.3(AARS1):c.1953G>A (p.Lys651=)
NM_001605.3(AARS1):c.1953G>C (p.Lys651Asn) rs771099188
NM_001605.3(AARS1):c.1954G>T (p.Ala652Ser)
NM_001605.3(AARS1):c.1956T>G (p.Ala652=) rs1194294732
NM_001605.3(AARS1):c.1965T>C (p.Ile655=)
NM_001605.3(AARS1):c.1967delinsAGGTGATTGAGG (p.Ala656fs) rs1597435790
NM_001605.3(AARS1):c.1970A>T (p.Asn657Ile)
NM_001605.3(AARS1):c.1971T>A (p.Asn657Lys)
NM_001605.3(AARS1):c.1975A>G (p.Met659Val) rs2152154324
NM_001605.3(AARS1):c.1979T>C (p.Ile660Thr) rs755780106
NM_001605.3(AARS1):c.1981G>A (p.Glu661Lys)
NM_001605.3(AARS1):c.1985C>A (p.Ala662Glu) rs2152154318
NM_001605.3(AARS1):c.1989C>T (p.Ala663=) rs2152154316
NM_001605.3(AARS1):c.1992+12G>A
NM_001605.3(AARS1):c.1992+19G>C rs1960065308
NM_001605.3(AARS1):c.1992+1G>A rs1960065852
NM_001605.3(AARS1):c.1992+5G>A rs1064796467
NM_001605.3(AARS1):c.1992+6A>G
NM_001605.3(AARS1):c.1992+7T>C
NM_001605.3(AARS1):c.1993-13_1993-11del rs1960041397
NM_001605.3(AARS1):c.1993-16C>G
NM_001605.3(AARS1):c.1993-18G>C
NM_001605.3(AARS1):c.1993-4G>A rs528932248
NM_001605.3(AARS1):c.1993-7C>T rs753213408
NM_001605.3(AARS1):c.1993-8T>C
NM_001605.3(AARS1):c.1993G>A (p.Ala665Thr)
NM_001605.3(AARS1):c.1994C>T (p.Ala665Val)
NM_001605.3(AARS1):c.1998_1999del (p.Thr668fs) rs1597435337
NM_001605.3(AARS1):c.2000A>C (p.Tyr667Ser)
NM_001605.3(AARS1):c.2000A>G (p.Tyr667Cys)
NM_001605.3(AARS1):c.2004C>T (p.Thr668=) rs1283821119
NM_001605.3(AARS1):c.2008G>C (p.Asp670His)
NM_001605.3(AARS1):c.2010T>C (p.Asp670=)
NM_001605.3(AARS1):c.2014C>T (p.Pro672Ser)
NM_001605.3(AARS1):c.2017del (p.Leu673fs) rs781347519
NM_001605.3(AARS1):c.2018T>A (p.Leu673Gln)
NM_001605.3(AARS1):c.2025A>T (p.Ala675=)
NM_001605.3(AARS1):c.2031A>T (p.Lys677Asn)
NM_001605.3(AARS1):c.2034C>T (p.Ala678=)
NM_001605.3(AARS1):c.2037C>A (p.Ile679=)
NM_001605.3(AARS1):c.2045T>A (p.Leu682Gln)
NM_001605.3(AARS1):c.2049G>A (p.Arg683=)
NM_001605.3(AARS1):c.2049G>T (p.Arg683=) rs1960038059
NM_001605.3(AARS1):c.2053G>A (p.Val685Met) rs531257362
NM_001605.3(AARS1):c.2059G>A (p.Asp687Asn) rs1597435277
NM_001605.3(AARS1):c.2059G>C (p.Asp687His)
NM_001605.3(AARS1):c.2064G>C (p.Glu688Asp)
NM_001605.3(AARS1):c.2069A>C (p.Tyr690Ser) rs563959372
NM_001605.3(AARS1):c.2069A>G (p.Tyr690Cys)
NM_001605.3(AARS1):c.2070T>G (p.Tyr690Ter)
NM_001605.3(AARS1):c.2071C>A (p.Pro691Thr)
NM_001605.3(AARS1):c.2082G>A (p.Val694=) rs1960037082
NM_001605.3(AARS1):c.2088C>T (p.Val696=)
NM_001605.3(AARS1):c.2089G>A (p.Val697Ile) rs368191672
NM_001605.3(AARS1):c.208G>C (p.Ala70Pro) rs1960569577
NM_001605.3(AARS1):c.2091C>T (p.Val697=)
NM_001605.3(AARS1):c.2092T>A (p.Ser698Thr) rs374062105
NM_001605.3(AARS1):c.2092T>G (p.Ser698Ala)
NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr) rs769778018
NM_001605.3(AARS1):c.2099G>T (p.Gly700Val)
NM_001605.3(AARS1):c.2100G>A (p.Gly700=) rs2152153574
NM_001605.3(AARS1):c.2103C>A (p.Val701=) rs1476539357
NM_001605.3(AARS1):c.2112C>A (p.Ser704=)
NM_001605.3(AARS1):c.2112C>G (p.Ser704=)
NM_001605.3(AARS1):c.2116T>A (p.Leu706Met)
NM_001605.3(AARS1):c.2118G>T (p.Leu706Phe)
NM_001605.3(AARS1):c.2123A>G (p.Asp708Gly)
NM_001605.3(AARS1):c.2125G>A (p.Asp709Asn) rs367806417
NM_001605.3(AARS1):c.2126A>T (p.Asp709Val)
NM_001605.3(AARS1):c.2128C>T (p.Pro710Ser)
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.3(AARS1):c.2130del (p.Ser711fs)
NM_001605.3(AARS1):c.2132C>G (p.Ser711Cys)
NM_001605.3(AARS1):c.2138C>T (p.Pro713Leu)
NM_001605.3(AARS1):c.2148C>T (p.Ser716=)
NM_001605.3(AARS1):c.2149C>T (p.Leu717=)
NM_001605.3(AARS1):c.2153C>G (p.Thr718Ser)
NM_001605.3(AARS1):c.2157T>C (p.Ser719=)
NM_001605.3(AARS1):c.215C>A (p.Thr72Asn)
NM_001605.3(AARS1):c.215C>T (p.Thr72Ile) rs2152167036
NM_001605.3(AARS1):c.2162A>C (p.Glu721Ala)
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu) rs115882953
NM_001605.3(AARS1):c.2169T>C (p.Cys723=) rs2152153481
NM_001605.3(AARS1):c.2170G>A (p.Gly724Arg)
NM_001605.3(AARS1):c.2176A>C (p.Thr726Pro) rs1312337697
NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala) rs1312337697
NM_001605.3(AARS1):c.2177+11C>T
NM_001605.3(AARS1):c.2177+13del
NM_001605.3(AARS1):c.2177+20A>G
NM_001605.3(AARS1):c.2177+5G>A rs2152153454
NM_001605.3(AARS1):c.2177+6T>A
NM_001605.3(AARS1):c.2177+9T>A
NM_001605.3(AARS1):c.2177+9T>G rs2152153451
NM_001605.3(AARS1):c.2177C>T (p.Thr726Met) rs1480620711
NM_001605.3(AARS1):c.2178-11C>T
NM_001605.3(AARS1):c.2178-14G>T rs371633904
NM_001605.3(AARS1):c.2178-17del
NM_001605.3(AARS1):c.2178-4dup rs1567602041
NM_001605.3(AARS1):c.2178-5T>C
NM_001605.3(AARS1):c.2178-9G>C
NM_001605.3(AARS1):c.2178_2179delinsTT (p.His727Tyr) rs2152151946
NM_001605.3(AARS1):c.2187G>A (p.Arg729=)
NM_001605.3(AARS1):c.2193G>A (p.Ser731=) rs746349849
NM_001605.3(AARS1):c.2201C>T (p.Ala734Val)
NM_001605.3(AARS1):c.2202A>T (p.Ala734=)
NM_001605.3(AARS1):c.2205A>T (p.Gly735=)
NM_001605.3(AARS1):c.2216T>C (p.Ile739Thr) rs2152151875
NM_001605.3(AARS1):c.2217C>G (p.Ile739Met) rs770980206
NM_001605.3(AARS1):c.2218G>A (p.Val740Met) rs749217453
NM_001605.3(AARS1):c.2222C>A (p.Thr741Lys) rs148383122
NM_001605.3(AARS1):c.2223G>C (p.Thr741=)
NM_001605.3(AARS1):c.2227G>A (p.Glu743Lys) rs1358716596
NM_001605.3(AARS1):c.2233A>C (p.Ile745Leu)
NM_001605.3(AARS1):c.2241G>A (p.Lys747=)
NM_001605.3(AARS1):c.2248C>A (p.Arg750=)
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp) rs751300562
NM_001605.3(AARS1):c.2255T>C (p.Ile752Thr)
NM_001605.3(AARS1):c.2257G>A (p.Val753Met)
NM_001605.3(AARS1):c.2259G>A (p.Val753=)
NM_001605.3(AARS1):c.225C>T (p.Cys75=) rs2152167029
NM_001605.3(AARS1):c.2260G>A (p.Ala754Thr) rs1959974421
NM_001605.3(AARS1):c.2265C>T (p.Val755=) rs1027921501
NM_001605.3(AARS1):c.2268A>C (p.Thr756=)
NM_001605.3(AARS1):c.2270G>A (p.Gly757Asp) rs2152151798
NM_001605.3(AARS1):c.2274C>G (p.Ala758=)
NM_001605.3(AARS1):c.2274C>T (p.Ala758=) rs143430116
NM_001605.3(AARS1):c.2279C>G (p.Ala760Gly)
NM_001605.3(AARS1):c.2286+6C>T
NM_001605.3(AARS1):c.2286+7A>G rs1597433975
NM_001605.3(AARS1):c.2286+8G>A
NM_001605.3(AARS1):c.2286+9G>A
NM_001605.3(AARS1):c.2287-10C>T
NM_001605.3(AARS1):c.2287-12G>T
NM_001605.3(AARS1):c.2287-3C>T
NM_001605.3(AARS1):c.2287-7dup
NM_001605.3(AARS1):c.2294G>A (p.Arg765Lys) rs758250941
NM_001605.3(AARS1):c.2295G>A (p.Arg765=)
NM_001605.3(AARS1):c.229C>T (p.Arg77Trp) rs1597446225
NM_001605.3(AARS1):c.2307C>T (p.Ser769=) rs2152150785
NM_001605.3(AARS1):c.2310G>A (p.Leu770=)
NM_001605.3(AARS1):c.2317T>C (p.Cys773Arg)
NM_001605.3(AARS1):c.231G>T (p.Arg77=) rs2152167020
NM_001605.3(AARS1):c.2322C>G (p.Leu774=) rs35769308
NM_001605.3(AARS1):c.2322C>T (p.Leu774=) rs35769308
NM_001605.3(AARS1):c.2324_2325del (p.Ser775fs)
NM_001605.3(AARS1):c.2328C>T (p.Val776=) rs146969194
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
NM_001605.3(AARS1):c.2330T>C (p.Met777Thr) rs573846062
NM_001605.3(AARS1):c.2331G>A (p.Met777Ile) rs1335792344
NM_001605.3(AARS1):c.2339A>C (p.Lys780Thr)
NM_001605.3(AARS1):c.2352G>T (p.Gln784His)
NM_001605.3(AARS1):c.2353A>G (p.Thr785Ala)
NM_001605.3(AARS1):c.2354C>G (p.Thr785Ser) rs774737730
NM_001605.3(AARS1):c.2358T>C (p.Ala786=) rs2152150749
NM_001605.3(AARS1):c.2359C>G (p.Pro787Ala)
NM_001605.3(AARS1):c.2368G>T (p.Asp790Tyr)
NM_001605.3(AARS1):c.236G>C (p.Gly79Ala) rs1960569020
NM_001605.3(AARS1):c.2371G>A (p.Val791Met)
NM_001605.3(AARS1):c.2375A>G (p.Gln792Arg) rs1959932678
NM_001605.3(AARS1):c.2382G>A (p.Glu794=)
NM_001605.3(AARS1):c.2385C>G (p.Ile795Met) rs1283711323
NM_001605.3(AARS1):c.2386G>A (p.Ala796Thr)
NM_001605.3(AARS1):c.2391C>T (p.Asp797=) rs2152150720
NM_001605.3(AARS1):c.23G>A (p.Ser8Asn)
NM_001605.3(AARS1):c.2400+15C>T
NM_001605.3(AARS1):c.2400+18C>T
NM_001605.3(AARS1):c.2400+20C>T
NM_001605.3(AARS1):c.2400+5G>A
NM_001605.3(AARS1):c.2400+7G>A
NM_001605.3(AARS1):c.2400+8C>A
NM_001605.3(AARS1):c.2400+8C>G
NM_001605.3(AARS1):c.2400+9G>A
NM_001605.3(AARS1):c.2400G>T (p.Glu800Asp)
NM_001605.3(AARS1):c.2401-11A>C rs377576408
NM_001605.3(AARS1):c.2401-11A>G rs377576408
NM_001605.3(AARS1):c.2401-11A>T rs377576408
NM_001605.3(AARS1):c.2401-13C>T
NM_001605.3(AARS1):c.2401-16C>G
NM_001605.3(AARS1):c.2401-18G>A
NM_001605.3(AARS1):c.2402C>T (p.Ala801Val)
NM_001605.3(AARS1):c.2405T>A (p.Leu802Gln) rs1959916452
NM_001605.3(AARS1):c.2411C>G (p.Thr804Ser)
NM_001605.3(AARS1):c.2414C>T (p.Ala805Val) rs865779159
NM_001605.3(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.3(AARS1):c.2425C>T (p.Gln809Ter)
NM_001605.3(AARS1):c.2428T>C (p.Trp810Arg)
NM_001605.3(AARS1):c.2431C>G (p.Gln811Glu)
NM_001605.3(AARS1):c.2435A>G (p.Lys812Arg) rs1179785822
NM_001605.3(AARS1):c.2447G>C (p.Arg816Pro)
NM_001605.3(AARS1):c.2448G>C (p.Arg816=)
NM_001605.3(AARS1):c.2449G>A (p.Glu817Lys)
NM_001605.3(AARS1):c.2452A>G (p.Thr818Ala) rs1567601050
NM_001605.3(AARS1):c.2457C>G (p.Leu819=) rs1485047907
NM_001605.3(AARS1):c.2469G>A (p.Lys823=)
NM_001605.3(AARS1):c.2471A>G (p.Lys824Arg) rs2152150233
NM_001605.3(AARS1):c.2475C>T (p.Val825=) rs1160997883
NM_001605.3(AARS1):c.2476A>C (p.Met826Leu)
NM_001605.3(AARS1):c.2476A>G (p.Met826Val)
NM_001605.3(AARS1):c.2477T>C (p.Met826Thr)
NM_001605.3(AARS1):c.2481T>A (p.Asp827Glu) rs1959913690
NM_001605.3(AARS1):c.2490C>T (p.Asp830=)
NM_001605.3(AARS1):c.2494G>T (p.Ala832Ser)
NM_001605.3(AARS1):c.2495C>T (p.Ala832Val) rs2152150203
NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn) rs1217292644
NM_001605.3(AARS1):c.2508T>C (p.Asp836=)
NM_001605.3(AARS1):c.2509G>A (p.Val837Ile)
NM_001605.3(AARS1):c.250G>T (p.Asp84Tyr)
NM_001605.3(AARS1):c.2517A>G (p.Lys839=)
NM_001605.3(AARS1):c.2520+12C>T
NM_001605.3(AARS1):c.2520+18C>T
NM_001605.3(AARS1):c.2520+7C>T
NM_001605.3(AARS1):c.2521-11T>C
NM_001605.3(AARS1):c.2521-12T>C rs200328881
NM_001605.3(AARS1):c.2521-16G>A
NM_001605.3(AARS1):c.2521-41_2521-16del
NM_001605.3(AARS1):c.2521-4_2521-3delinsAA rs1959908890
NM_001605.3(AARS1):c.2521G>A (p.Val841Met) rs1377534422
NM_001605.3(AARS1):c.2527G>C (p.Glu843Gln)
NM_001605.3(AARS1):c.252C>T (p.Asp84=)
NM_001605.3(AARS1):c.2534C>T (p.Thr845Met) rs1959908249
NM_001605.3(AARS1):c.2538_2539delinsTT (p.Lys846_Gln847delinsAsnTer)
NM_001605.3(AARS1):c.2545A>G (p.Ile849Val)
NM_001605.3(AARS1):c.2546T>C (p.Ile849Thr)
NM_001605.3(AARS1):c.2550C>T (p.Asp850=)
NM_001605.3(AARS1):c.2552_2553delinsAA (p.Ser851Lys)
NM_001605.3(AARS1):c.2555A>G (p.Asn852Ser) rs1959907229
NM_001605.3(AARS1):c.2561A>G (p.Asn854Ser)
NM_001605.3(AARS1):c.2567C>T (p.Pro856Leu) rs1273114725
NM_001605.3(AARS1):c.2577C>T (p.Ile859=)
NM_001605.3(AARS1):c.2586G>A (p.Met862Ile)
NM_001605.3(AARS1):c.2591G>A (p.Ser864Asn)
NM_001605.3(AARS1):c.2595C>T (p.Gly865=) rs751781504
NM_001605.3(AARS1):c.2600C>T (p.Ser867Leu)
NM_001605.3(AARS1):c.2607+10G>C
NM_001605.3(AARS1):c.2607+12G>C
NM_001605.3(AARS1):c.2607+13C>A
NM_001605.3(AARS1):c.2607+14C>T
NM_001605.3(AARS1):c.2607+17G>A
NM_001605.3(AARS1):c.2607+18G>A rs760437667
NM_001605.3(AARS1):c.2607+18G>T rs760437667
NM_001605.3(AARS1):c.2607+20C>G
NM_001605.3(AARS1):c.2607+2C>T
NM_001605.3(AARS1):c.2607+8A>G rs1597432621
NM_001605.3(AARS1):c.2608-11C>G
NM_001605.3(AARS1):c.2608-14G>A
NM_001605.3(AARS1):c.2608-16C>G rs371163247
NM_001605.3(AARS1):c.2608-16C>T rs371163247
NM_001605.3(AARS1):c.2608-17C>G rs955702969
NM_001605.3(AARS1):c.2608-18G>T
NM_001605.3(AARS1):c.2612T>C (p.Leu871Pro) rs2152149764
NM_001605.3(AARS1):c.2622C>T (p.Ala874=) rs1597432428
NM_001605.3(AARS1):c.2630T>C (p.Leu877Pro) rs2152149752
NM_001605.3(AARS1):c.2630T>G (p.Leu877Arg)
NM_001605.3(AARS1):c.2636A>G (p.Lys879Arg)
NM_001605.3(AARS1):c.2638A>G (p.Met880Val)
NM_001605.3(AARS1):c.2641C>T (p.His881Tyr)
NM_001605.3(AARS1):c.2642A>G (p.His881Arg)
NM_001605.3(AARS1):c.2643C>G (p.His881Gln)
NM_001605.3(AARS1):c.2653A>G (p.Thr885Ala)
NM_001605.3(AARS1):c.2660C>T (p.Ala887Val)
NM_001605.3(AARS1):c.2664G>A (p.Met888Ile)
NM_001605.3(AARS1):c.2667C>T (p.Leu889=)
NM_001605.3(AARS1):c.2673G>A (p.Thr891=)
NM_001605.3(AARS1):c.2686G>T (p.Ala896Ser)
NM_001605.3(AARS1):c.2694G>T (p.Lys898Asn)
NM_001605.3(AARS1):c.269A>C (p.Lys90Thr)
NM_001605.3(AARS1):c.2706G>A (p.Leu902=) rs1214694193
NM_001605.3(AARS1):c.2706G>T (p.Leu902=)
NM_001605.3(AARS1):c.270G>A (p.Lys90=) rs1597446213
NM_001605.3(AARS1):c.2712A>G (p.Gln904=) rs1555539241
NM_001605.3(AARS1):c.2713G>T (p.Val905Phe)
NM_001605.3(AARS1):c.2715T>A (p.Val905=) rs4081753
NM_001605.3(AARS1):c.2716C>G (p.Pro906Ala)
NM_001605.3(AARS1):c.2720A>G (p.Gln907Arg)
NM_001605.3(AARS1):c.2721+12C>T
NM_001605.3(AARS1):c.2721+14C>G rs369055609
NM_001605.3(AARS1):c.2721+15G>A rs377325175
NM_001605.3(AARS1):c.2721+15G>C rs377325175
NM_001605.3(AARS1):c.2721+15G>T rs377325175
NM_001605.3(AARS1):c.2721+17A>T rs2152149667
NM_001605.3(AARS1):c.2721+20A>G
NM_001605.3(AARS1):c.2722-13T>G
NM_001605.3(AARS1):c.2722-20C>G
NM_001605.3(AARS1):c.2722-20dup
NM_001605.3(AARS1):c.2722-28_2740dup rs768242660
NM_001605.3(AARS1):c.2722-2A>C
NM_001605.3(AARS1):c.2722-2A>T rs1273121575
NM_001605.3(AARS1):c.2722-7C>T rs2152149455
NM_001605.3(AARS1):c.2722-9del
NM_001605.3(AARS1):c.2724T>A (p.Asn908Lys)
NM_001605.3(AARS1):c.2724T>C (p.Asn908=) rs2152149449
NM_001605.3(AARS1):c.2726C>T (p.Ala909Val)
NM_001605.3(AARS1):c.2728G>A (p.Ala910Thr)
NM_001605.3(AARS1):c.2729C>G (p.Ala910Gly)
NM_001605.3(AARS1):c.2736G>T (p.Arg912=)
NM_001605.3(AARS1):c.2738G>T (p.Gly913Val) rs369774476
NM_001605.3(AARS1):c.2740_2761del (p.Leu914fs)
NM_001605.3(AARS1):c.2741del (p.Gly913_Leu914insTer) rs747345978
NM_001605.3(AARS1):c.2748C>T (p.Ala916=)
NM_001605.3(AARS1):c.2749A>C (p.Ser917Arg) rs2152149427
NM_001605.3(AARS1):c.2751C>T (p.Ser917=)
NM_001605.3(AARS1):c.2757G>A (p.Trp919Ter) rs1959876202
NM_001605.3(AARS1):c.2765A>T (p.Gln922Leu) rs2152149415
NM_001605.3(AARS1):c.276C>G (p.Val92=) rs774991720
NM_001605.3(AARS1):c.2776T>C (p.Leu926=) rs1597432045
NM_001605.3(AARS1):c.277T>C (p.Tyr93His)
NM_001605.3(AARS1):c.2785G>A (p.Gly929Ser)
NM_001605.3(AARS1):c.2792G>T (p.Gly931Val)
NM_001605.3(AARS1):c.2810C>T (p.Ser937Phe)
NM_001605.3(AARS1):c.2811T>C (p.Ser937=)
NM_001605.3(AARS1):c.2814A>C (p.Ala938=)
NM_001605.3(AARS1):c.2817G>T (p.Gln939His) rs140048586
NM_001605.3(AARS1):c.2818G>T (p.Ala940Ser)
NM_001605.3(AARS1):c.2819C>T (p.Ala940Val) rs1959874409
NM_001605.3(AARS1):c.281A>C (p.His94Pro)
NM_001605.3(AARS1):c.2822C>G (p.Thr941Arg)
NM_001605.3(AARS1):c.2822C>T (p.Thr941Ile)
NM_001605.3(AARS1):c.2837G>T (p.Gly946Val)
NM_001605.3(AARS1):c.2838C>T (p.Gly946=)
NM_001605.3(AARS1):c.2841C>T (p.Cys947=) rs1555539162
NM_001605.3(AARS1):c.2842C>T (p.Leu948=)
NM_001605.3(AARS1):c.2849A>T (p.Glu950Val) rs1205588554
NM_001605.3(AARS1):c.2853G>A (p.Ala951=)
NM_001605.3(AARS1):c.2859G>C (p.Gln953His)
NM_001605.3(AARS1):c.2860C>T (p.Leu954=) rs1959872785
NM_001605.3(AARS1):c.2863G>C (p.Ala955Pro)
NM_001605.3(AARS1):c.2867C>G (p.Thr956Ser)
NM_001605.3(AARS1):c.2867C>T (p.Thr956Ile) rs747833388
NM_001605.3(AARS1):c.2868T>G (p.Thr956=)
NM_001605.3(AARS1):c.286A>G (p.Thr96Ala)
NM_001605.3(AARS1):c.2870C>A (p.Ser957Tyr)
NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys) rs146540551
NM_001605.3(AARS1):c.2874C>G (p.Phe958Leu)
NM_001605.3(AARS1):c.2874C>T (p.Phe958=)
NM_001605.3(AARS1):c.2879A>C (p.Gln960Pro) rs1959872136
NM_001605.3(AARS1):c.2880G>C (p.Gln960His)
NM_001605.3(AARS1):c.2882T>C (p.Leu961Pro)
NM_001605.3(AARS1):c.2889C>G (p.Leu963=) rs75033663
NM_001605.3(AARS1):c.2889C>T (p.Leu963=) rs75033663
NM_001605.3(AARS1):c.2890G>A (p.Gly964Arg)
NM_001605.3(AARS1):c.2899A>C (p.Lys967Gln)
NM_001605.3(AARS1):c.289TTC[1] (p.Phe98del) rs773602581
NM_001605.3(AARS1):c.2901G>C (p.Lys967Asn) rs762241810
NM_001605.3(AARS1):c.2906G>C (p.Ter969Ser)
NM_001605.3(AARS1):c.2906del (p.Asn968_Ter969insTer)
NM_001605.3(AARS1):c.294C>T (p.Phe98=)
NM_001605.3(AARS1):c.299T>C (p.Met100Thr)
NM_001605.3(AARS1):c.29T>C (p.Ile10Thr)
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg) rs1597446183
NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer) rs763937206
NM_001605.3(AARS1):c.333+12G>A
NM_001605.3(AARS1):c.333+15G>A
NM_001605.3(AARS1):c.333+18_333+20del rs2152166939
NM_001605.3(AARS1):c.333+3A>G rs747431164
NM_001605.3(AARS1):c.333+4A>C rs2152166953
NM_001605.3(AARS1):c.333+9A>T
NM_001605.3(AARS1):c.333G>A (p.Lys111=) rs1597446167
NM_001605.3(AARS1):c.334-10C>A rs758124515
NM_001605.3(AARS1):c.334-13_334-9del
NM_001605.3(AARS1):c.334-14T>G rs2152166778
NM_001605.3(AARS1):c.334-15C>T
NM_001605.3(AARS1):c.334-17C>T
NM_001605.3(AARS1):c.334-19C>G
NM_001605.3(AARS1):c.334-19CT[2] rs1305114725
NM_001605.3(AARS1):c.334-6_338del rs2152166762
NM_001605.3(AARS1):c.334G>A (p.Glu112Lys)
NM_001605.3(AARS1):c.336A>G (p.Glu112=) rs759137116
NM_001605.3(AARS1):c.337T>C (p.Leu113=)
NM_001605.3(AARS1):c.339G>C (p.Leu113Phe) rs1960558852
NM_001605.3(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.342A>G (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.352G>C (p.Ala118Pro)
NM_001605.3(AARS1):c.354T>C (p.Ala118=)
NM_001605.3(AARS1):c.35A>G (p.Gln12Arg) rs1960733766
NM_001605.3(AARS1):c.370C>T (p.Gln124Ter)
NM_001605.3(AARS1):c.377T>A (p.Phe126Tyr)
NM_001605.3(AARS1):c.377T>C (p.Phe126Ser)
NM_001605.3(AARS1):c.380G>T (p.Gly127Val)
NM_001605.3(AARS1):c.386C>T (p.Pro129Leu)
NM_001605.3(AARS1):c.387C>T (p.Pro129=) rs1960557000
NM_001605.3(AARS1):c.388A>G (p.Ile130Val)
NM_001605.3(AARS1):c.38G>A (p.Arg13Gln)
NM_001605.3(AARS1):c.390T>G (p.Ile130Met)
NM_001605.3(AARS1):c.392A>G (p.Glu131Gly)
NM_001605.3(AARS1):c.397C>G (p.Leu133Val)
NM_001605.3(AARS1):c.399T>G (p.Leu133=)
NM_001605.3(AARS1):c.400T>C (p.Tyr134His) rs1960556610
NM_001605.3(AARS1):c.406A>G (p.Thr136Ala)
NM_001605.3(AARS1):c.416G>A (p.Gly139Asp)
NM_001605.3(AARS1):c.427G>A (p.Ala143Thr) rs2152166712
NM_001605.3(AARS1):c.428C>T (p.Ala143Val)
NM_001605.3(AARS1):c.429A>C (p.Ala143=) rs1457318201
NM_001605.3(AARS1):c.431C>G (p.Ala144Gly)
NM_001605.3(AARS1):c.431_445del (p.Ala144_Ala148del)
NM_001605.3(AARS1):c.436T>C (p.Leu146=)
NM_001605.3(AARS1):c.43A>C (p.Ile15Leu)
NM_001605.3(AARS1):c.443C>T (p.Ala148Val) rs1960555053
NM_001605.3(AARS1):c.445G>C (p.Asp149His)
NM_001605.3(AARS1):c.453A>G (p.Glu151=) rs765555696
NM_001605.3(AARS1):c.461A>C (p.Gln154Pro)
NM_001605.3(AARS1):c.461A>G (p.Gln154Arg)
NM_001605.3(AARS1):c.462G>C (p.Gln154His) rs1164802341
NM_001605.3(AARS1):c.465C>G (p.Ile155Met)
NM_001605.3(AARS1):c.46G>A (p.Asp16Asn)
NM_001605.3(AARS1):c.477G>A (p.Leu159=)
NM_001605.3(AARS1):c.479+10C>A
NM_001605.3(AARS1):c.479+10C>T
NM_001605.3(AARS1):c.479+5G>A rs1487772006
NM_001605.3(AARS1):c.479G>A (p.Gly160Glu)
NM_001605.3(AARS1):c.480-18T>C
NM_001605.3(AARS1):c.480-8T>G rs751472610
NM_001605.3(AARS1):c.480G>C (p.Gly160=) rs2152163363
NM_001605.3(AARS1):c.481C>T (p.Leu161=)
NM_001605.3(AARS1):c.488A>G (p.Asp163Gly) rs1597443484
NM_001605.3(AARS1):c.490A>G (p.Thr164Ala)
NM_001605.3(AARS1):c.493A>G (p.Lys165Glu) rs2152163346
NM_001605.3(AARS1):c.499C>T (p.Leu167Phe)
NM_001605.3(AARS1):c.49T>G (p.Phe17Val)
NM_001605.3(AARS1):c.501C>T (p.Leu167=) rs1567608510
NM_001605.3(AARS1):c.502C>T (p.Pro168Ser)
NM_001605.3(AARS1):c.50T>C (p.Phe17Ser)
NM_001605.3(AARS1):c.510C>T (p.Asn170=)
NM_001605.3(AARS1):c.511A>G (p.Met171Val)
NM_001605.3(AARS1):c.52T>G (p.Phe18Val)
NM_001605.3(AARS1):c.535G>A (p.Gly179Ser)
NM_001605.3(AARS1):c.53T>A (p.Phe18Tyr)
NM_001605.3(AARS1):c.542C>T (p.Thr181Met)
NM_001605.3(AARS1):c.543G>A (p.Thr181=) rs900751261
NM_001605.3(AARS1):c.555T>A (p.Gly185=)
NM_001605.3(AARS1):c.556C>T (p.Pro186Ser)
NM_001605.3(AARS1):c.563G>A (p.Ser188Asn)
NM_001605.3(AARS1):c.571C>T (p.His191Tyr)
NM_001605.3(AARS1):c.573C>G (p.His191Gln)
NM_001605.3(AARS1):c.583A>G (p.Ile195Val)
NM_001605.3(AARS1):c.58A>T (p.Arg20Trp) rs770697148
NM_001605.3(AARS1):c.593G>A (p.Arg198Gln)
NM_001605.3(AARS1):c.598G>A (p.Ala200Thr)
NM_001605.3(AARS1):c.601G>C (p.Ala201Pro) rs760716722
NM_001605.3(AARS1):c.601G>T (p.Ala201Ser) rs760716722
NM_001605.3(AARS1):c.602C>G (p.Ala201Gly) rs1028669019
NM_001605.3(AARS1):c.60G>A (p.Arg20=)
NM_001605.3(AARS1):c.612C>T (p.Val204=)
NM_001605.3(AARS1):c.615C>G (p.Asn205Lys) rs1180375496
NM_001605.3(AARS1):c.617A>G (p.Gln206Arg)
NM_001605.3(AARS1):c.618G>A (p.Gln206=) rs139785247
NM_001605.3(AARS1):c.61A>G (p.Asn21Asp)
NM_001605.3(AARS1):c.621C>G (p.Asp207Glu) rs147424208
NM_001605.3(AARS1):c.621C>T (p.Asp207=) rs147424208
NM_001605.3(AARS1):c.622G>C (p.Asp208His) rs780893599
NM_001605.3(AARS1):c.623A>C (p.Asp208Ala)
NM_001605.3(AARS1):c.624C>G (p.Asp208Glu) rs1960410317
NM_001605.3(AARS1):c.636G>A (p.Leu212=)
NM_001605.3(AARS1):c.639G>A (p.Glu213=) rs2152163164
NM_001605.3(AARS1):c.63C>G (p.Asn21Lys)
NM_001605.3(AARS1):c.641T>G (p.Ile214Ser) rs1960409749
NM_001605.3(AARS1):c.648C>G (p.Asn216Lys) rs753186792
NM_001605.3(AARS1):c.651T>C (p.Leu217=) rs1960409154
NM_001605.3(AARS1):c.651del (p.Val218fs) rs1960409206
NM_001605.3(AARS1):c.658A>C (p.Ile220Leu)
NM_001605.3(AARS1):c.664T>A (p.Tyr222Asn) rs1960408934
NM_001605.3(AARS1):c.665A>G (p.Tyr222Cys)
NM_001605.3(AARS1):c.667A>G (p.Asn223Asp)
NM_001605.3(AARS1):c.671+15C>A
NM_001605.3(AARS1):c.671+18C>A
NM_001605.3(AARS1):c.672-10G>T
NM_001605.3(AARS1):c.672-15T>C
NM_001605.3(AARS1):c.672-16C>T
NM_001605.3(AARS1):c.672-19C>G
NM_001605.3(AARS1):c.672-5T>A
NM_001605.3(AARS1):c.672-5T>C rs777431545
NM_001605.3(AARS1):c.682G>A (p.Gly228Ser)
NM_001605.3(AARS1):c.686T>C (p.Ile229Thr) rs530889354
NM_001605.3(AARS1):c.688C>T (p.Leu230=)
NM_001605.3(AARS1):c.68A>G (p.His23Arg)
NM_001605.3(AARS1):c.691A>T (p.Lys231Ter)
NM_001605.3(AARS1):c.695C>G (p.Pro232Arg)
NM_001605.3(AARS1):c.701C>G (p.Pro234Arg) rs1960368917
NM_001605.3(AARS1):c.706A>G (p.Lys236Glu)
NM_001605.3(AARS1):c.709A>G (p.Ser237Gly) rs2152162176
NM_001605.3(AARS1):c.70A>T (p.Thr24Ser)
NM_001605.3(AARS1):c.722G>C (p.Gly241Ala)
NM_001605.3(AARS1):c.723G>T (p.Gly241=)
NM_001605.3(AARS1):c.726G>C (p.Met242Ile) rs780360628
NM_001605.3(AARS1):c.72G>C (p.Thr24=)
NM_001605.3(AARS1):c.736C>A (p.Arg246=) rs756337758
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter) rs756337758
NM_001605.3(AARS1):c.737G>T (p.Arg246Leu)
NM_001605.3(AARS1):c.739C>A (p.Leu247Met) rs557956516
NM_001605.3(AARS1):c.743T>C (p.Val248Ala) rs565851586
NM_001605.3(AARS1):c.743dup (p.Ser249fs)
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) rs1300927114
NM_001605.3(AARS1):c.755A>G (p.Gln252Arg)
NM_001605.3(AARS1):c.756G>C (p.Gln252His)
NM_001605.3(AARS1):c.761A>C (p.Lys254Thr) rs1037360663
NM_001605.3(AARS1):c.767C>A (p.Ser256Tyr)
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys) rs1597442205
NM_001605.3(AARS1):c.774T>C (p.Tyr258=) rs2152162118
NM_001605.3(AARS1):c.778A>G (p.Thr260Ala) rs1165867512
NM_001605.3(AARS1):c.781G>C (p.Asp261His)
NM_001605.3(AARS1):c.783C>T (p.Asp261=)
NM_001605.3(AARS1):c.785_793del (p.Leu262_Val264del)
NM_001605.3(AARS1):c.797A>G (p.Tyr266Cys) rs1567607754
NM_001605.3(AARS1):c.798C>T (p.Tyr266=)
NM_001605.3(AARS1):c.811C>G (p.Gln271Glu) rs1597442182
NM_001605.3(AARS1):c.815A>C (p.Lys272Thr)
NM_001605.3(AARS1):c.816+13T>C
NM_001605.3(AARS1):c.816+15G>T rs1057248434
NM_001605.3(AARS1):c.816+20C>G
NM_001605.3(AARS1):c.816+6G>T rs2152162075
NM_001605.3(AARS1):c.816+9G>A
NM_001605.3(AARS1):c.816+9G>C
NM_001605.3(AARS1):c.817-11C>G
NM_001605.3(AARS1):c.817-11C>T
NM_001605.3(AARS1):c.817-16del rs2152161834
NM_001605.3(AARS1):c.817-1G>A rs866662905
NM_001605.3(AARS1):c.817-3T>C
NM_001605.3(AARS1):c.817-3dup
NM_001605.3(AARS1):c.817-4A>C
NM_001605.3(AARS1):c.81C>G (p.His27Gln)
NM_001605.3(AARS1):c.821C>G (p.Thr274Arg)
NM_001605.3(AARS1):c.822A>T (p.Thr274=) rs757503544
NM_001605.3(AARS1):c.826G>A (p.Ala276Thr)
NM_001605.3(AARS1):c.827C>T (p.Ala276Val)
NM_001605.3(AARS1):c.830G>A (p.Arg277Gln)
NM_001605.3(AARS1):c.830G>C (p.Arg277Pro)
NM_001605.3(AARS1):c.832C>G (p.Pro278Ala) rs1251770154
NM_001605.3(AARS1):c.832C>T (p.Pro278Ser)
NM_001605.3(AARS1):c.834A>G (p.Pro278=)
NM_001605.3(AARS1):c.836A>C (p.Tyr279Ser)
NM_001605.3(AARS1):c.83C>T (p.Ser28Leu) rs1326668375
NM_001605.3(AARS1):c.841G>C (p.Gly281Arg) rs750278639
NM_001605.3(AARS1):c.846A>G (p.Lys282=) rs561670727
NM_001605.3(AARS1):c.850G>A (p.Gly284Ser)
NM_001605.3(AARS1):c.853G>T (p.Ala285Ser) rs2152161765
NM_001605.3(AARS1):c.856G>A (p.Glu286Lys) rs2152161761
NM_001605.3(AARS1):c.877A>G (p.Met293Val) rs762420332
NM_001605.3(AARS1):c.877A>T (p.Met293Leu)
NM_001605.3(AARS1):c.885C>T (p.Tyr295=)
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
NM_001605.3(AARS1):c.887G>C (p.Arg296Pro) rs1375611364
NM_001605.3(AARS1):c.893T>A (p.Leu298Gln)
NM_001605.3(AARS1):c.896C>T (p.Ala299Val)
NM_001605.3(AARS1):c.897T>C (p.Ala299=)
NM_001605.3(AARS1):c.89C>T (p.Ala30Val)
NM_001605.3(AARS1):c.906T>C (p.Ala302=)
NM_001605.3(AARS1):c.907C>G (p.Arg303Gly) rs1302363015
NM_001605.3(AARS1):c.909G>T (p.Arg303=) rs1344681812
NM_001605.3(AARS1):c.911C>A (p.Thr304Asn)
NM_001605.3(AARS1):c.911C>T (p.Thr304Ile) rs2152161709
NM_001605.3(AARS1):c.912C>G (p.Thr304=) rs2152161707
NM_001605.3(AARS1):c.913A>C (p.Ile305Leu)
NM_001605.3(AARS1):c.923C>T (p.Ala308Val)
NM_001605.3(AARS1):c.926T>C (p.Leu309Pro) rs1960350126
NM_001605.3(AARS1):c.927G>A (p.Leu309=)
NM_001605.3(AARS1):c.937G>T (p.Gly313Cys)
NM_001605.3(AARS1):c.938G>A (p.Gly313Asp) rs1679069745
NM_001605.3(AARS1):c.939C>A (p.Gly313=)
NM_001605.3(AARS1):c.940C>A (p.Arg314=)
NM_001605.3(AARS1):c.941G>A (p.Arg314Gln) rs370496079
NM_001605.3(AARS1):c.942G>T (p.Arg314=)
NM_001605.3(AARS1):c.955G>C (p.Gly319Arg)
NM_001605.3(AARS1):c.958C>G (p.Arg320Gly) rs138490305
NM_001605.3(AARS1):c.962+10C>G
NM_001605.3(AARS1):c.962+11T>C
NM_001605.3(AARS1):c.962+12G>A
NM_001605.3(AARS1):c.962+19G>C rs1427580064
NM_001605.3(AARS1):c.962+1G>T
NM_001605.3(AARS1):c.962+1del rs1960348987
NM_001605.3(AARS1):c.962+4A>C
NM_001605.3(AARS1):c.962+7A>G
NM_001605.3(AARS1):c.962+8T>C
NM_001605.3(AARS1):c.963-12T>C
NM_001605.3(AARS1):c.963-8T>C
NM_001605.3(AARS1):c.963-9C>T
NM_001605.3(AARS1):c.966T>A (p.Tyr322Ter)
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)
NM_001605.3(AARS1):c.967G>T (p.Val323Leu) rs2152160767
NM_001605.3(AARS1):c.96C>A (p.Ile32=)
NM_001605.3(AARS1):c.982C>A (p.Leu328Ile)
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys) rs1064795664
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter) rs868097991
NM_001605.3(AARS1):c.9T>C (p.Ser3=)

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