ClinVar Miner

List of variants studied for Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 873
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HGVS dbSNP gnomAD frequency
NM_005051.3(QARS1):c.977-13C>A rs4521268 0.65945
NM_005051.3(QARS1):c.399C>T (p.His133=) rs5030795 0.07620
NM_005051.3(QARS1):c.854A>G (p.Asn285Ser) rs11539148 0.04122
NM_005051.3(QARS1):c.1957-19C>G rs112579679 0.00826
NM_005051.3(QARS1):c.1635A>G (p.Gln545=) rs113144521 0.00701
NM_005051.3(QARS1):c.1615-17C>G rs138271247 0.00663
NM_005051.3(QARS1):c.1671G>T (p.Val557=) rs115671018 0.00334
NM_005051.3(QARS1):c.1014T>C (p.Tyr338=) rs138685078 0.00318
NM_005051.3(QARS1):c.1295+13T>C rs149070379 0.00299
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00220
NM_005051.3(QARS1):c.673C>T (p.Arg225Trp) rs142517070 0.00203
NM_005051.3(QARS1):c.163C>T (p.Leu55=) rs58012546 0.00181
NM_005051.3(QARS1):c.1426G>A (p.Val476Ile) rs144092780 0.00169
NM_005051.3(QARS1):c.117+17C>T rs202012811 0.00167
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu) rs142327602 0.00108
NM_005051.3(QARS1):c.877-17T>C rs374002070 0.00108
NM_005051.3(QARS1):c.1055+10G>C rs372899947 0.00098
NM_005051.3(QARS1):c.2064G>A (p.Glu688=) rs144316335 0.00072
NM_005051.3(QARS1):c.1760C>T (p.Ser587Phe) rs144563810 0.00061
NM_005051.3(QARS1):c.1295+20G>C rs377586991 0.00048
NM_005051.3(QARS1):c.117+5G>A rs151099269 0.00042
NM_005051.3(QARS1):c.1051C>T (p.Arg351Cys) rs763901654 0.00037
NM_005051.3(QARS1):c.316G>A (p.Asp106Asn) rs141983717 0.00034
NM_005051.3(QARS1):c.1615-9T>C rs199903047 0.00031
NM_005051.3(QARS1):c.632-20C>T rs367637023 0.00029
NM_005051.3(QARS1):c.83C>A (p.Ala28Asp) rs148998142 0.00029
NM_005051.3(QARS1):c.2261A>G (p.Asp754Gly) rs142480574 0.00026
NM_005051.3(QARS1):c.1246G>A (p.Val416Ile) rs147076980 0.00024
NM_005051.3(QARS1):c.1388+7G>A rs201234869 0.00023
NM_005051.3(QARS1):c.1527-18C>T rs374752377 0.00021
NM_005051.3(QARS1):c.1568G>A (p.Arg523Gln) rs201013732 0.00021
NM_005051.3(QARS1):c.451+19G>A rs369141824 0.00021
NM_005051.3(QARS1):c.400C>T (p.Arg134Trp) rs142831772 0.00018
NM_005051.3(QARS1):c.143T>C (p.Ile48Thr) rs201397059 0.00016
NM_005051.3(QARS1):c.1758+17_1758+18del rs372006503 0.00015
NM_005051.3(QARS1):c.1864-15A>G rs374530633 0.00015
NM_005051.3(QARS1):c.877-15G>A rs368949211 0.00015
NM_005051.3(QARS1):c.1195G>A (p.Glu399Lys) rs143072084 0.00014
NM_005051.3(QARS1):c.1506T>C (p.Leu502=) rs775836716 0.00014
NM_005051.3(QARS1):c.1712T>C (p.Val571Ala) rs755259427 0.00014
NM_005051.3(QARS1):c.451+4A>C rs370688039 0.00014
NM_005051.3(QARS1):c.947C>T (p.Thr316Met) rs151217558 0.00014
NM_005051.3(QARS1):c.2085-12C>G rs549153964 0.00012
NM_005051.3(QARS1):c.610G>A (p.Ala204Thr) rs148374607 0.00012
NM_005051.3(QARS1):c.118-5C>T rs778689182 0.00011
NM_005051.3(QARS1):c.1200C>G (p.Ala400=) rs374202707 0.00011
NM_005051.3(QARS1):c.1999C>T (p.Arg667Trp) rs370587517 0.00011
NM_005051.3(QARS1):c.337G>A (p.Val113Met) rs767616063 0.00011
NM_005051.3(QARS1):c.1726C>A (p.Arg576=) rs780301490 0.00010
NM_005051.3(QARS1):c.461G>A (p.Arg154Gln) rs201032950 0.00010
NM_005051.3(QARS1):c.1585C>T (p.Pro529Ser) rs373719958 0.00009
NM_005051.3(QARS1):c.451+5G>C rs376304606 0.00009
NM_005051.3(QARS1):c.703+17A>T rs60002662 0.00009
NM_005051.3(QARS1):c.2172T>C (p.Asp724=) rs200663794 0.00008
NM_005051.3(QARS1):c.395G>C (p.Arg132Thr) rs530494890 0.00008
NM_005051.3(QARS1):c.933A>G (p.Glu311=) rs775610674 0.00008
NM_005051.3(QARS1):c.1005G>A (p.Ala335=) rs779575422 0.00007
NM_005051.3(QARS1):c.1362A>G (p.Ser454=) rs755542401 0.00007
NM_005051.3(QARS1):c.1612C>T (p.Arg538Trp) rs201176263 0.00007
NM_005051.3(QARS1):c.1863+18A>C rs375666402 0.00007
NM_005051.3(QARS1):c.1886G>A (p.Arg629His) rs139730889 0.00007
NM_005051.3(QARS1):c.451+18C>T rs202145473 0.00007
NM_005051.3(QARS1):c.1559C>T (p.Thr520Met) rs764216449 0.00006
NM_005051.3(QARS1):c.1759-13T>A rs375454834 0.00006
NM_005051.3(QARS1):c.2152-11C>G rs373696203 0.00006
NM_005051.3(QARS1):c.297G>C (p.Leu99Phe) rs147794116 0.00006
NM_005051.3(QARS1):c.601C>T (p.Arg201Trp) rs200703354 0.00006
NM_005051.3(QARS1):c.901C>T (p.Arg301Cys) rs1370265763 0.00006
NM_005051.3(QARS1):c.1158C>T (p.Leu386=) rs1085307775 0.00005
NM_005051.3(QARS1):c.1613G>A (p.Arg538Gln) rs778807845 0.00005
NM_005051.3(QARS1):c.1701A>G (p.Arg567=) rs1363062208 0.00005
NM_005051.3(QARS1):c.1957-5T>G rs747269470 0.00005
NM_005051.3(QARS1):c.2110C>G (p.Pro704Ala) rs527504481 0.00005
NM_005051.3(QARS1):c.321C>T (p.Phe107=) rs201359259 0.00005
NM_005051.3(QARS1):c.522C>T (p.Leu174=) rs778151037 0.00005
NM_005051.3(QARS1):c.720C>T (p.Thr240=) rs143724892 0.00005
NM_005051.3(QARS1):c.818A>G (p.Asn273Ser) rs200736711 0.00005
NM_005051.3(QARS1):c.1122C>T (p.Pro374=) rs572025824 0.00004
NM_005051.3(QARS1):c.1163A>G (p.Glu388Gly) rs777424712 0.00004
NM_005051.3(QARS1):c.118-20C>T rs770321868 0.00004
NM_005051.3(QARS1):c.1279C>T (p.Arg427Cys) rs746114521 0.00004
NM_005051.3(QARS1):c.1304A>G (p.Tyr435Cys) rs143462532 0.00004
NM_005051.3(QARS1):c.1542A>G (p.Pro514=) rs370232570 0.00004
NM_005051.3(QARS1):c.1567C>T (p.Arg523Ter) rs767667312 0.00004
NM_005051.3(QARS1):c.1727G>A (p.Arg576Gln) rs983282837 0.00004
NM_005051.3(QARS1):c.1741A>G (p.Asn581Asp) rs777671697 0.00004
NM_005051.3(QARS1):c.1827A>C (p.Ala609=) rs781219702 0.00004
NM_005051.3(QARS1):c.2073C>T (p.Leu691=) rs138588649 0.00004
NM_005051.3(QARS1):c.2085-3C>T rs1024765171 0.00004
NM_005051.3(QARS1):c.2163C>T (p.His721=) rs752777280 0.00004
NM_005051.3(QARS1):c.2174C>T (p.Ala725Val) rs913919560 0.00004
NM_005051.3(QARS1):c.2210C>T (p.Pro737Leu) rs772699618 0.00004
NM_005051.3(QARS1):c.2215G>A (p.Asp739Asn) rs749055007 0.00004
NM_005051.3(QARS1):c.2218A>C (p.Lys740Gln) rs925254000 0.00004
NM_005051.3(QARS1):c.2253G>T (p.Val751=) rs751751662 0.00004
NM_005051.3(QARS1):c.265+7C>A rs763169989 0.00004
NM_005051.3(QARS1):c.418G>C (p.Glu140Gln) rs896454620 0.00004
NM_005051.3(QARS1):c.697A>C (p.Lys233Gln) rs1248234116 0.00004
NM_005051.3(QARS1):c.704-14T>C rs750060365 0.00004
NM_005051.3(QARS1):c.8C>T (p.Ala3Val) rs748155291 0.00004
NM_005051.3(QARS1):c.976+11G>C rs549390023 0.00004
NM_005051.3(QARS1):c.1004C>T (p.Ala335Val) rs778484822 0.00003
NM_005051.3(QARS1):c.1085G>T (p.Gly362Val) rs763512186 0.00003
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs) rs775652214 0.00003
NM_005051.3(QARS1):c.1292A>C (p.Lys431Thr) rs778340693 0.00003
NM_005051.3(QARS1):c.1295+18T>C rs761369646 0.00003
NM_005051.3(QARS1):c.134G>T (p.Gly45Val) rs587777331 0.00003
NM_005051.3(QARS1):c.1578C>T (p.Gly526=) rs763408207 0.00003
NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser) rs771579029 0.00003
NM_005051.3(QARS1):c.1738A>G (p.Thr580Ala) rs750907390 0.00003
NM_005051.3(QARS1):c.1746T>C (p.Phe582=) rs762223639 0.00003
NM_005051.3(QARS1):c.2069G>A (p.Arg690His) rs201781920 0.00003
NM_005051.3(QARS1):c.2223C>G (p.Phe741Leu) rs1282040984 0.00003
NM_005051.3(QARS1):c.2238T>G (p.Leu746=) rs140358033 0.00003
NM_005051.3(QARS1):c.2250C>A (p.Ser750=) rs748351582 0.00003
NM_005051.3(QARS1):c.2250C>T (p.Ser750=) rs748351582 0.00003
NM_005051.3(QARS1):c.266-18C>T rs965125528 0.00003
NM_005051.3(QARS1):c.495C>T (p.Ile165=) rs375725197 0.00003
NM_005051.3(QARS1):c.668A>G (p.Gln223Arg) rs750460731 0.00003
NM_005051.3(QARS1):c.693C>T (p.Phe231=) rs760938297 0.00003
NM_005051.3(QARS1):c.741A>G (p.Pro247=) rs779428867 0.00003
NM_005051.3(QARS1):c.780T>C (p.Thr260=) rs367793549 0.00003
NM_005051.3(QARS1):c.1032G>A (p.Ala344=) rs565068821 0.00002
NM_005051.3(QARS1):c.1094T>C (p.Leu365Pro) rs962759884 0.00002
NM_005051.3(QARS1):c.117+4C>T rs749708983 0.00002
NM_005051.3(QARS1):c.1172G>A (p.Arg391His) rs746827969 0.00002
NM_005051.3(QARS1):c.118-15C>T rs748618405 0.00002
NM_005051.3(QARS1):c.1189G>C (p.Glu397Gln) rs758759632 0.00002
NM_005051.3(QARS1):c.1194C>T (p.Gly398=) rs200860200 0.00002
NM_005051.3(QARS1):c.1255C>T (p.Arg419Ter) rs769378726 0.00002
NM_005051.3(QARS1):c.1295+17G>T rs764843548 0.00002
NM_005051.3(QARS1):c.1388+18A>G rs774150476 0.00002
NM_005051.3(QARS1):c.140C>T (p.Thr47Ile) rs1342775742 0.00002
NM_005051.3(QARS1):c.1452T>C (p.Tyr484=) rs762645121 0.00002
NM_005051.3(QARS1):c.1457G>A (p.Arg486His) rs1250051938 0.00002
NM_005051.3(QARS1):c.1527-14C>T rs746433798 0.00002
NM_005051.3(QARS1):c.1614+3A>G rs1485211824 0.00002
NM_005051.3(QARS1):c.1841T>C (p.Ile614Thr) rs778303235 0.00002
NM_005051.3(QARS1):c.1876G>C (p.Gly626Arg) rs758025209 0.00002
NM_005051.3(QARS1):c.187C>G (p.Leu63Val) rs540260992 0.00002
NM_005051.3(QARS1):c.1884G>A (p.Lys628=) rs764987448 0.00002
NM_005051.3(QARS1):c.1928A>G (p.Tyr643Cys) rs1396216642 0.00002
NM_005051.3(QARS1):c.2075A>G (p.Tyr692Cys) rs557972227 0.00002
NM_005051.3(QARS1):c.2080C>T (p.Arg694Ter) rs746293241 0.00002
NM_005051.3(QARS1):c.2164G>A (p.Val722Met) rs781454677 0.00002
NM_005051.3(QARS1):c.2195T>C (p.Val732Ala) rs763741745 0.00002
NM_005051.3(QARS1):c.306C>T (p.Ile102=) rs752872267 0.00002
NM_005051.3(QARS1):c.388A>G (p.Ile130Val) rs777778390 0.00002
NM_005051.3(QARS1):c.571-8T>G rs1460148528 0.00002
NM_005051.3(QARS1):c.591A>G (p.Glu197=) rs1060504546 0.00002
NM_005051.3(QARS1):c.602G>A (p.Arg201Gln) rs192040640 0.00002
NM_005051.3(QARS1):c.609G>A (p.Thr203=) rs764009927 0.00002
NM_005051.3(QARS1):c.665A>C (p.Glu222Ala) rs1349950171 0.00002
NM_005051.3(QARS1):c.753T>C (p.Asn251=) rs1290974855 0.00002
NM_005051.3(QARS1):c.765G>A (p.Gln255=) rs138204612 0.00002
NM_005051.3(QARS1):c.800G>A (p.Arg267Gln) rs777675321 0.00002
NM_005051.3(QARS1):c.930G>A (p.Glu310=) rs377081629 0.00002
NM_005051.3(QARS1):c.954C>A (p.Ile318=) rs1403428399 0.00002
NM_005051.3(QARS1):c.9T>C (p.Ala3=) rs776233744 0.00002
NM_005051.3(QARS1):c.1002T>C (p.Tyr334=) rs778288296 0.00001
NM_005051.3(QARS1):c.1028A>G (p.Tyr343Cys) rs2042454007 0.00001
NM_005051.3(QARS1):c.1031C>T (p.Ala344Val) rs749995144 0.00001
NM_005051.3(QARS1):c.1047C>T (p.Leu349=) rs200795712 0.00001
NM_005051.3(QARS1):c.1052G>A (p.Arg351His) rs1450459883 0.00001
NM_005051.3(QARS1):c.1055+15A>G rs759522611 0.00001
NM_005051.3(QARS1):c.1055+20G>A rs763569700 0.00001
NM_005051.3(QARS1):c.1056-12G>A rs777731620 0.00001
NM_005051.3(QARS1):c.1056-13C>T rs369771745 0.00001
NM_005051.3(QARS1):c.1060C>G (p.Leu354Val) rs1370961350 0.00001
NM_005051.3(QARS1):c.1081C>T (p.Arg361Ter) rs751537797 0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) rs185476065 0.00001
NM_005051.3(QARS1):c.1133G>A (p.Arg378His) rs777116688 0.00001
NM_005051.3(QARS1):c.1160T>G (p.Phe387Cys) rs899079673 0.00001
NM_005051.3(QARS1):c.1164+1G>C rs1262558494 0.00001
NM_005051.3(QARS1):c.1164+6G>C rs1553751939 0.00001
NM_005051.3(QARS1):c.1164G>T (p.Glu388Asp) rs201842141 0.00001
NM_005051.3(QARS1):c.117+6A>C rs1397101113 0.00001
NM_005051.3(QARS1):c.1176G>A (p.Lys392=) rs2042448418 0.00001
NM_005051.3(QARS1):c.1203A>G (p.Thr401=) rs578209547 0.00001
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp) rs587777332 0.00001
NM_005051.3(QARS1):c.1208G>A (p.Arg403Gln) rs370681625 0.00001
NM_005051.3(QARS1):c.1267A>G (p.Thr423Ala) rs746791896 0.00001
NM_005051.3(QARS1):c.1280G>A (p.Arg427His) rs148004466 0.00001
NM_005051.3(QARS1):c.128C>G (p.Thr43Ser) rs550717519 0.00001
NM_005051.3(QARS1):c.1295+7G>A rs767895338 0.00001
NM_005051.3(QARS1):c.12A>G (p.Leu4=) rs1253715637 0.00001
NM_005051.3(QARS1):c.1313A>G (p.Tyr438Cys) rs1020521977 0.00001
NM_005051.3(QARS1):c.1315G>A (p.Asp439Asn) rs764347049 0.00001
NM_005051.3(QARS1):c.1329C>T (p.Cys443=) rs749498572 0.00001
NM_005051.3(QARS1):c.1385C>T (p.Ala462Val) rs373289986 0.00001
NM_005051.3(QARS1):c.1387C>T (p.Arg463Ter) rs755674457 0.00001
NM_005051.3(QARS1):c.1389-3C>A rs368358627 0.00001
NM_005051.3(QARS1):c.1390C>T (p.Arg464Cys) rs141072684 0.00001
NM_005051.3(QARS1):c.1398C>G (p.Ser466=) rs370978363 0.00001
NM_005051.3(QARS1):c.1423G>C (p.Asp475His) rs1367183765 0.00001
NM_005051.3(QARS1):c.1435C>T (p.Pro479Ser) rs766391690 0.00001
NM_005051.3(QARS1):c.1451del (p.Tyr484fs) rs1064795119 0.00001
NM_005051.3(QARS1):c.1456C>T (p.Arg486Cys) rs750282631 0.00001
NM_005051.3(QARS1):c.1479T>C (p.Val493=) rs776640127 0.00001
NM_005051.3(QARS1):c.1507G>A (p.Val503Ile) rs1287967203 0.00001
NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp) rs553194272 0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp) rs587777334 0.00001
NM_005051.3(QARS1):c.1560G>A (p.Thr520=) rs1216381228 0.00001
NM_005051.3(QARS1):c.1563C>G (p.Ala521=) rs752671261 0.00001
NM_005051.3(QARS1):c.1630G>A (p.Ala544Thr) rs918156086 0.00001
NM_005051.3(QARS1):c.1650A>G (p.Pro550=) rs762120492 0.00001
NM_005051.3(QARS1):c.1672C>T (p.Arg558Cys) rs150328993 0.00001
NM_005051.3(QARS1):c.1687G>A (p.Asp563Asn) rs974143738 0.00001
NM_005051.3(QARS1):c.1699C>T (p.Arg567Ter) rs141184565 0.00001
NM_005051.3(QARS1):c.1732A>G (p.Ile578Val) rs758929887 0.00001
NM_005051.3(QARS1):c.1758+13C>T rs773191970 0.00001
NM_005051.3(QARS1):c.1758+7C>T rs762420621 0.00001
NM_005051.3(QARS1):c.1759-2A>G rs1232739970 0.00001
NM_005051.3(QARS1):c.1774G>C (p.Val592Leu) rs751191501 0.00001
NM_005051.3(QARS1):c.1787C>T (p.Pro596Leu) rs148882908 0.00001
NM_005051.3(QARS1):c.1788A>G (p.Pro596=) rs769716994 0.00001
NM_005051.3(QARS1):c.1805G>C (p.Gly602Ala) rs972789446 0.00001
NM_005051.3(QARS1):c.1822T>G (p.Phe608Val) rs145548376 0.00001
NM_005051.3(QARS1):c.1832T>G (p.Ile611Ser) rs757743183 0.00001
NM_005051.3(QARS1):c.1847G>A (p.Arg616Lys) rs2042428248 0.00001
NM_005051.3(QARS1):c.1863+10G>A rs749903302 0.00001
NM_005051.3(QARS1):c.1863+11G>A rs764681784 0.00001
NM_005051.3(QARS1):c.1863+14G>A rs1057521351 0.00001
NM_005051.3(QARS1):c.1863+7T>C rs1368869759 0.00001
NM_005051.3(QARS1):c.1864-12T>A rs2042425058 0.00001
NM_005051.3(QARS1):c.18C>T (p.Ser6=) rs780349624 0.00001
NM_005051.3(QARS1):c.1923A>G (p.Thr641=) rs764054134 0.00001
NM_005051.3(QARS1):c.1957-14C>T rs751375938 0.00001
NM_005051.3(QARS1):c.1957-18C>T rs1376364091 0.00001
NM_005051.3(QARS1):c.1972G>C (p.Val658Leu) rs748978904 0.00001
NM_005051.3(QARS1):c.19C>T (p.Leu7=) rs758656563 0.00001
NM_005051.3(QARS1):c.2000G>A (p.Arg667Gln) rs1037325022 0.00001
NM_005051.3(QARS1):c.200G>A (p.Arg67Gln) rs1575404377 0.00001
NM_005051.3(QARS1):c.2028C>T (p.Ala676=) rs762780883 0.00001
NM_005051.3(QARS1):c.2046A>C (p.Ser682=) rs750619032 0.00001
NM_005051.3(QARS1):c.207C>T (p.Leu69=) rs1267599526 0.00001
NM_005051.3(QARS1):c.2083C>G (p.Leu695Val) rs376482152 0.00001
NM_005051.3(QARS1):c.2085-13A>T rs887349442 0.00001
NM_005051.3(QARS1):c.2085-14C>G rs1280267884 0.00001
NM_005051.3(QARS1):c.2085-18C>T rs1005774254 0.00001
NM_005051.3(QARS1):c.2091G>A (p.Gln697=) rs1227040183 0.00001
NM_005051.3(QARS1):c.2151+11G>T rs774818694 0.00001
NM_005051.3(QARS1):c.2151+13G>C rs1465310490 0.00001
NM_005051.3(QARS1):c.2152-7C>T rs1293403830 0.00001
NM_005051.3(QARS1):c.2153C>T (p.Ala718Val) rs1332410993 0.00001
NM_005051.3(QARS1):c.2166G>T (p.Val722=) rs752094317 0.00001
NM_005051.3(QARS1):c.2193T>C (p.Ser731=) rs1449000257 0.00001
NM_005051.3(QARS1):c.2209C>A (p.Pro737Thr) rs527864842 0.00001
NM_005051.3(QARS1):c.2220G>A (p.Lys740=) rs777452461 0.00001
NM_005051.3(QARS1):c.2234G>A (p.Arg745His) rs770019480 0.00001
NM_005051.3(QARS1):c.2251G>A (p.Val751Met) rs781617872 0.00001
NM_005051.3(QARS1):c.226A>G (p.Ile76Val) rs755600734 0.00001
NM_005051.3(QARS1):c.2277+1G>C rs1193194264 0.00001
NM_005051.3(QARS1):c.2290C>T (p.Arg764Ter) rs746327492 0.00001
NM_005051.3(QARS1):c.2291G>A (p.Arg764Gln) rs1291965738 0.00001
NM_005051.3(QARS1):c.229G>A (p.Ala77Thr) rs752251563 0.00001
NM_005051.3(QARS1):c.2311G>A (p.Asp771Asn) rs754648501 0.00001
NM_005051.3(QARS1):c.2317G>A (p.Gly773Arg) rs762570876 0.00001
NM_005051.3(QARS1):c.2320A>G (p.Lys774Glu) rs373300144 0.00001
NM_005051.3(QARS1):c.248C>T (p.Thr83Ile) rs2042510350 0.00001
NM_005051.3(QARS1):c.253C>A (p.Pro85Thr) rs1264945460 0.00001
NM_005051.3(QARS1):c.266-15G>A rs761737038 0.00001
NM_005051.3(QARS1):c.266-17G>A rs1057523447 0.00001
NM_005051.3(QARS1):c.274G>C (p.Glu92Gln) rs201997520 0.00001
NM_005051.3(QARS1):c.277T>C (p.Tyr93His) rs1205366710 0.00001
NM_005051.3(QARS1):c.282G>A (p.Val94=) rs189971021 0.00001
NM_005051.3(QARS1):c.295T>C (p.Leu99=) rs754138545 0.00001
NM_005051.3(QARS1):c.32C>G (p.Thr11Ser) rs1461865905 0.00001
NM_005051.3(QARS1):c.35G>A (p.Ser12Asn) rs1333683203 0.00001
NM_005051.3(QARS1):c.376-10C>T rs771043693 0.00001
NM_005051.3(QARS1):c.401G>A (p.Arg134Gln) rs751676545 0.00001
NM_005051.3(QARS1):c.419A>G (p.Glu140Gly) rs750778308 0.00001
NM_005051.3(QARS1):c.421C>T (p.Arg141Cys) rs765585957 0.00001
NM_005051.3(QARS1):c.422G>A (p.Arg141His) rs1293633518 0.00001
NM_005051.3(QARS1):c.452-10A>G rs754207465 0.00001
NM_005051.3(QARS1):c.452-4C>A rs759329857 0.00001
NM_005051.3(QARS1):c.452-7C>T rs767186986 0.00001
NM_005051.3(QARS1):c.452-8G>T rs1408295828 0.00001
NM_005051.3(QARS1):c.45G>C (p.Leu15=) rs756522994 0.00001
NM_005051.3(QARS1):c.460C>T (p.Arg154Trp) rs766000850 0.00001
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter) rs776344968 0.00001
NM_005051.3(QARS1):c.487A>G (p.Lys163Glu) rs1398173228 0.00001
NM_005051.3(QARS1):c.4G>A (p.Ala2Thr) rs1375795727 0.00001
NM_005051.3(QARS1):c.513G>A (p.Met171Ile) rs1158546093 0.00001
NM_005051.3(QARS1):c.516+13C>A rs754227489 0.00001
NM_005051.3(QARS1):c.516+7G>A rs1242336173 0.00001
NM_005051.3(QARS1):c.539A>G (p.Lys180Arg) rs1052975324 0.00001
NM_005051.3(QARS1):c.557A>G (p.Glu186Gly) rs1346246672 0.00001
NM_005051.3(QARS1):c.570+16G>T rs1479784080 0.00001
NM_005051.3(QARS1):c.571-17C>G rs773560133 0.00001
NM_005051.3(QARS1):c.608C>T (p.Thr203Met) rs371204910 0.00001
NM_005051.3(QARS1):c.625G>A (p.Glu209Lys) rs2042480469 0.00001
NM_005051.3(QARS1):c.631+1G>A rs1230015326 0.00001
NM_005051.3(QARS1):c.631+7A>C rs2042480160 0.00001
NM_005051.3(QARS1):c.64G>A (p.Glu22Lys) rs2042517058 0.00001
NM_005051.3(QARS1):c.676G>C (p.Gly226Arg) rs769241806 0.00001
NM_005051.3(QARS1):c.699G>T (p.Lys233Asn) rs2042475313 0.00001
NM_005051.3(QARS1):c.703+15C>G rs747697693 0.00001
NM_005051.3(QARS1):c.704-10G>C rs761251190 0.00001
NM_005051.3(QARS1):c.704-5G>T rs775662720 0.00001
NM_005051.3(QARS1):c.72C>G (p.Leu24=) rs2042516875 0.00001
NM_005051.3(QARS1):c.781G>C (p.Gly261Arg) rs779251239 0.00001
NM_005051.3(QARS1):c.790-14C>T rs201610281 0.00001
NM_005051.3(QARS1):c.790-17C>T rs2042470074 0.00001
NM_005051.3(QARS1):c.794G>A (p.Arg265His) rs916890735 0.00001
NM_005051.3(QARS1):c.828G>A (p.Leu276=) rs547663940 0.00001
NM_005051.3(QARS1):c.876+18G>C rs1247192471 0.00001
NM_005051.3(QARS1):c.877-12C>T rs1197276215 0.00001
NM_005051.3(QARS1):c.902G>A (p.Arg301His) rs1553752019 0.00001
NM_005051.3(QARS1):c.90C>A (p.Ser30Arg) rs1221014964 0.00001
NM_005051.3(QARS1):c.90C>G (p.Ser30Arg) rs1221014964 0.00001
NM_005051.3(QARS1):c.92C>T (p.Ala31Val) rs371969519 0.00001
NM_005051.3(QARS1):c.93G>A (p.Ala31=) rs768289723 0.00001
NM_005051.3(QARS1):c.943T>C (p.Phe315Leu) rs779300608 0.00001
NM_005051.3(QARS1):c.948G>A (p.Thr316=) rs749720721 0.00001
NM_005051.3(QARS1):c.960C>T (p.Asp320=) rs780978358 0.00001
NM_005051.3(QARS1):c.969C>T (p.Ala323=) rs373752424 0.00001
NM_005051.3(QARS1):c.977G>A (p.Gly326Asp) rs746002985 0.00001
NC_000003.11:g.(?_45435946)_(49137751_?)dup
NM_005051.3(QARS1):c.1004C>G (p.Ala335Gly) rs778484822
NM_005051.3(QARS1):c.1005G>T (p.Ala335=)
NM_005051.3(QARS1):c.1009_1012del (p.Asp337fs) rs1186557939
NM_005051.3(QARS1):c.1011C>T (p.Asp337=)
NM_005051.3(QARS1):c.1013A>G (p.Tyr338Cys) rs1174267054
NM_005051.3(QARS1):c.101G>C (p.Arg34Pro) rs1261477095
NM_005051.3(QARS1):c.1021C>T (p.Gln341Ter)
NM_005051.3(QARS1):c.1026A>G (p.Leu342=) rs1559968026
NM_005051.3(QARS1):c.1029T>C (p.Tyr343=)
NM_005051.3(QARS1):c.1036G>A (p.Ala346Thr) rs2042453818
NM_005051.3(QARS1):c.1038T>C (p.Ala346=)
NM_005051.3(QARS1):c.1049T>G (p.Ile350Ser)
NM_005051.3(QARS1):c.1055+11G>T
NM_005051.3(QARS1):c.1055+7C>T rs2107103323
NM_005051.3(QARS1):c.1055+8C>T rs1559967983
NM_005051.3(QARS1):c.1056-10T>C
NM_005051.3(QARS1):c.1056-11C>A
NM_005051.3(QARS1):c.1056-13C>G
NM_005051.3(QARS1):c.1056-15A>G
NM_005051.3(QARS1):c.1056-16C>A
NM_005051.3(QARS1):c.1056-16C>T
NM_005051.3(QARS1):c.1056-17dup
NM_005051.3(QARS1):c.1056-20C>G
NM_005051.3(QARS1):c.1056-5dup
NM_005051.3(QARS1):c.1056-7C>T
NM_005051.3(QARS1):c.1067A>T (p.Tyr356Phe) rs2107103019
NM_005051.3(QARS1):c.1073G>T (p.Cys358Phe) rs2042451884
NM_005051.3(QARS1):c.1075del (p.His359fs) rs2042451819
NM_005051.3(QARS1):c.107C>G (p.Ala36Gly) rs1575404644
NM_005051.3(QARS1):c.107C>T (p.Ala36Val) rs1575404644
NM_005051.3(QARS1):c.1097A>G (p.Lys366Arg) rs2042451493
NM_005051.3(QARS1):c.1099G>A (p.Gly367Ser)
NM_005051.3(QARS1):c.10C>G (p.Leu4Val)
NM_005051.3(QARS1):c.10C>T (p.Leu4=)
NM_005051.3(QARS1):c.1114C>T (p.Pro372Ser)
NM_005051.3(QARS1):c.1139T>G (p.Met380Arg) rs2042451058
NM_005051.3(QARS1):c.1141GAG[1] (p.Glu382del) rs2042450960
NM_005051.3(QARS1):c.1153C>T (p.Leu385=)
NM_005051.3(QARS1):c.1156C>T (p.Leu386Phe) rs1291156079
NM_005051.3(QARS1):c.1160T>C (p.Phe387Ser)
NM_005051.3(QARS1):c.1162G>C (p.Glu388Gln)
NM_005051.3(QARS1):c.1164+11A>G
NM_005051.3(QARS1):c.1164+20T>C
NM_005051.3(QARS1):c.1164+3G>A
NM_005051.3(QARS1):c.1164+6G>A rs1553751939
NM_005051.3(QARS1):c.1165-17G>A
NM_005051.3(QARS1):c.1165-8C>G rs769561465
NM_005051.3(QARS1):c.1168A>G (p.Met390Val)
NM_005051.3(QARS1):c.117+11C>T
NM_005051.3(QARS1):c.117+15G>A
NM_005051.3(QARS1):c.117+16C>T rs2107114792
NM_005051.3(QARS1):c.117+19C>G
NM_005051.3(QARS1):c.117+20_117+21delinsGA rs2107114770
NM_005051.3(QARS1):c.117+4C>G rs749708983
NM_005051.3(QARS1):c.117+7G>A rs2042515687
NM_005051.3(QARS1):c.117+8C>A
NM_005051.3(QARS1):c.118-11T>C
NM_005051.3(QARS1):c.118-12C>T rs1057521517
NM_005051.3(QARS1):c.118-12del
NM_005051.3(QARS1):c.118-13C>T
NM_005051.3(QARS1):c.118-14C>T
NM_005051.3(QARS1):c.118-20C>A
NM_005051.3(QARS1):c.118-20C>G rs770321868
NM_005051.3(QARS1):c.118-3C>T
NM_005051.3(QARS1):c.118-6C>T rs1060504545
NM_005051.3(QARS1):c.1181A>G (p.Lys394Arg) rs2107102257
NM_005051.3(QARS1):c.1194del (p.Glu399fs) rs2107102230
NM_005051.3(QARS1):c.11T>C (p.Leu4Pro) rs368809933
NM_005051.3(QARS1):c.1216C>T (p.Leu406=)
NM_005051.3(QARS1):c.1221G>A (p.Val407=) rs2107102134
NM_005051.3(QARS1):c.1223T>C (p.Met408Thr) rs2107102130
NM_005051.3(QARS1):c.1229A>G (p.Asp410Gly) rs2107102098
NM_005051.3(QARS1):c.1242C>T (p.Asp414=)
NM_005051.3(QARS1):c.1253A>G (p.Tyr418Cys) rs772662033
NM_005051.3(QARS1):c.1256G>A (p.Arg419Gln)
NM_005051.3(QARS1):c.1265A>G (p.Tyr422Cys)
NM_005051.3(QARS1):c.1270C>T (p.Pro424Ser) rs918533004
NM_005051.3(QARS1):c.1272_1279del (p.His426fs) rs1238347256
NM_005051.3(QARS1):c.1274A>G (p.His425Arg)
NM_005051.3(QARS1):c.1274A>T (p.His425Leu) rs2107101880
NM_005051.3(QARS1):c.1276C>A (p.His426Asn)
NM_005051.3(QARS1):c.1278C>T (p.His426=)
NM_005051.3(QARS1):c.1283C>T (p.Thr428Ile)
NM_005051.3(QARS1):c.1286G>A (p.Gly429Glu) rs2042446400
NM_005051.3(QARS1):c.1288G>A (p.Asp430Asn)
NM_005051.3(QARS1):c.1295+10G>A
NM_005051.3(QARS1):c.1295+12A>G
NM_005051.3(QARS1):c.1295+20G>A rs377586991
NM_005051.3(QARS1):c.1296-11A>G
NM_005051.3(QARS1):c.1296-14C>T
NM_005051.3(QARS1):c.1296-16T>C rs976282467
NM_005051.3(QARS1):c.1296-19C>G rs753331885
NM_005051.3(QARS1):c.1296-19C>T
NM_005051.3(QARS1):c.1296-20C>G
NM_005051.3(QARS1):c.1296-5C>T
NM_005051.3(QARS1):c.1301T>C (p.Ile434Thr) rs1559967530
NM_005051.3(QARS1):c.1307C>A (p.Pro436His) rs1456791515
NM_005051.3(QARS1):c.1307C>T (p.Pro436Leu) rs1456791515
NM_005051.3(QARS1):c.1309A>T (p.Thr437Ser) rs2042443898
NM_005051.3(QARS1):c.130C>A (p.Leu44Met) rs752660207
NM_005051.3(QARS1):c.130C>T (p.Leu44=)
NM_005051.3(QARS1):c.1314C>T (p.Tyr438=) rs1294643628
NM_005051.3(QARS1):c.131T>C (p.Leu44Pro) rs1559970954
NM_005051.3(QARS1):c.1341C>T (p.Ser447=)
NM_005051.3(QARS1):c.1342A>G (p.Ile448Val) rs2042443370
NM_005051.3(QARS1):c.1345G>T (p.Glu449Ter) rs957599864
NM_005051.3(QARS1):c.1347G>A (p.Glu449=)
NM_005051.3(QARS1):c.1359C>T (p.His453=)
NM_005051.3(QARS1):c.135T>C (p.Gly45=)
NM_005051.3(QARS1):c.1362_1365del (p.Leu455fs) rs747938605
NM_005051.3(QARS1):c.1374G>A (p.Lys458=)
NM_005051.3(QARS1):c.1375G>A (p.Glu459Lys)
NM_005051.3(QARS1):c.1388+18A>T
NM_005051.3(QARS1):c.1388+9G>T
NM_005051.3(QARS1):c.1388G>A (p.Arg463Gln) rs374178767
NM_005051.3(QARS1):c.1389-12C>A
NM_005051.3(QARS1):c.1389-14C>T rs1281496185
NM_005051.3(QARS1):c.1389-16T>C
NM_005051.3(QARS1):c.1389-20dup rs754961432
NM_005051.3(QARS1):c.1389-3C>T
NM_005051.3(QARS1):c.138C>T (p.Ser46=) rs1559970939
NM_005051.3(QARS1):c.1391_1401dup (p.Phe468fs) rs2107100555
NM_005051.3(QARS1):c.1401C>A (p.Tyr467Ter)
NM_005051.3(QARS1):c.1416T>C (p.Asn472=)
NM_005051.3(QARS1):c.1417G>C (p.Ala473Pro) rs2042439830
NM_005051.3(QARS1):c.1418C>T (p.Ala473Val) rs1064797070
NM_005051.3(QARS1):c.1420C>T (p.Leu474=)
NM_005051.3(QARS1):c.1425C>T (p.Asp475=)
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) rs1172486173
NM_005051.3(QARS1):c.1437T>C (p.Pro479=)
NM_005051.3(QARS1):c.1453G>C (p.Gly485Arg) rs878854751
NM_005051.3(QARS1):c.1455C>T (p.Gly485=)
NM_005051.3(QARS1):c.1458C>T (p.Arg486=)
NM_005051.3(QARS1):c.1465C>T (p.Leu489=)
NM_005051.3(QARS1):c.1476T>C (p.Ala492=)
NM_005051.3(QARS1):c.1478T>A (p.Val493Asp) rs1060502308
NM_005051.3(QARS1):c.1482C>G (p.Val494=)
NM_005051.3(QARS1):c.1485dup (p.Lys496Ter) rs2042438780
NM_005051.3(QARS1):c.1486A>G (p.Lys496Glu) rs2042438753
NM_005051.3(QARS1):c.1489A>C (p.Arg497=)
NM_005051.3(QARS1):c.149A>G (p.Lys50Arg) rs1559970922
NM_005051.3(QARS1):c.1500C>T (p.Leu500=)
NM_005051.3(QARS1):c.1505T>G (p.Leu502Arg) rs2042438556
NM_005051.3(QARS1):c.1507G>T (p.Val503Leu)
NM_005051.3(QARS1):c.1526+11C>T rs2107100109
NM_005051.3(QARS1):c.1526+13G>A
NM_005051.3(QARS1):c.1526+18G>T
NM_005051.3(QARS1):c.1526+1G>A rs372844870
NM_005051.3(QARS1):c.1526+8C>T
NM_005051.3(QARS1):c.1526+9G>A
NM_005051.3(QARS1):c.1527-18C>A
NM_005051.3(QARS1):c.1527-2A>G rs1331307146
NM_005051.3(QARS1):c.1527-7T>C
NM_005051.3(QARS1):c.1528G>A (p.Asp510Asn) rs2042436829
NM_005051.3(QARS1):c.1539C>T (p.Asp513=)
NM_005051.3(QARS1):c.1554A>G (p.Thr518=)
NM_005051.3(QARS1):c.1557C>T (p.Leu519=) rs1575400084
NM_005051.3(QARS1):c.1559C>G (p.Thr520Arg) rs764216449
NM_005051.3(QARS1):c.155C>T (p.Thr52Ile) rs371410194
NM_005051.3(QARS1):c.1561G>A (p.Ala521Thr) rs756375405
NM_005051.3(QARS1):c.1564C>T (p.Leu522=)
NM_005051.3(QARS1):c.156C>T (p.Thr52=)
NM_005051.3(QARS1):c.1571G>A (p.Arg524Gln)
NM_005051.3(QARS1):c.1571G>T (p.Arg524Leu) rs767053528
NM_005051.3(QARS1):c.1573C>T (p.Arg525Trp) rs1553751726
NM_005051.3(QARS1):c.1582C>G (p.Pro528Ala)
NM_005051.3(QARS1):c.1582C>T (p.Pro528Ser) rs1559967000
NM_005051.3(QARS1):c.159G>A (p.Gly53=)
NM_005051.3(QARS1):c.15C>T (p.Asp5=) rs1204792104
NM_005051.3(QARS1):c.1611C>T (p.Ala537=)
NM_005051.3(QARS1):c.1612del (p.Arg538fs) rs1553751717
NM_005051.3(QARS1):c.1613G>T (p.Arg538Leu)
NM_005051.3(QARS1):c.1614+11G>A
NM_005051.3(QARS1):c.1614+2T>C
NM_005051.3(QARS1):c.1615-17C>T rs138271247
NM_005051.3(QARS1):c.1615-2A>T rs369802930
NM_005051.3(QARS1):c.1615-4C>G
NM_005051.3(QARS1):c.1615-7C>T rs2107099358
NM_005051.3(QARS1):c.1615-9T>G rs199903047
NM_005051.3(QARS1):c.1615-9dup rs1245507170
NM_005051.3(QARS1):c.1634_1637del (p.Gln545fs)
NM_005051.3(QARS1):c.1641A>G (p.Thr547=) rs1249686253
NM_005051.3(QARS1):c.1648C>T (p.Pro550Ser)
NM_005051.3(QARS1):c.1651C>T (p.His551Tyr) rs775185486
NM_005051.3(QARS1):c.1654C>G (p.Leu552Val) rs2107099204
NM_005051.3(QARS1):c.1658T>A (p.Leu553Gln) rs1559966841
NM_005051.3(QARS1):c.1659A>G (p.Leu553=) rs1553751689
NM_005051.3(QARS1):c.1667G>A (p.Cys556Tyr) rs879232053
NM_005051.3(QARS1):c.1669G>A (p.Val557Met)
NM_005051.3(QARS1):c.1672C>A (p.Arg558Ser) rs150328993
NM_005051.3(QARS1):c.1673G>A (p.Arg558His)
NM_005051.3(QARS1):c.1681C>G (p.Leu561Val) rs1559966804
NM_005051.3(QARS1):c.1690dup (p.Thr564fs) rs2107099019
NM_005051.3(QARS1):c.1691_1692del (p.Thr564fs) rs1559966797
NM_005051.3(QARS1):c.1694C>T (p.Ala565Val) rs2107098980
NM_005051.3(QARS1):c.1695C>T (p.Ala565=)
NM_005051.3(QARS1):c.16dup (p.Ser6fs)
NM_005051.3(QARS1):c.1700G>A (p.Arg567Gln) rs1468382416
NM_005051.3(QARS1):c.1704C>A (p.Ala568=)
NM_005051.3(QARS1):c.1723C>T (p.Leu575=) rs1468553612
NM_005051.3(QARS1):c.1725A>G (p.Leu575=)
NM_005051.3(QARS1):c.1726C>T (p.Arg576Trp) rs780301490
NM_005051.3(QARS1):c.1735A>G (p.Ile579Val)
NM_005051.3(QARS1):c.1739C>T (p.Thr580Ile) rs2107098823
NM_005051.3(QARS1):c.1746T>A (p.Phe582Leu) rs762223639
NM_005051.3(QARS1):c.1747C>A (p.Pro583Thr)
NM_005051.3(QARS1):c.1757A>G (p.Lys586Arg) rs2107098749
NM_005051.3(QARS1):c.1758+14A>T
NM_005051.3(QARS1):c.1758+1G>T
NM_005051.3(QARS1):c.1758+4G>A
NM_005051.3(QARS1):c.1758G>C (p.Lys586Asn) rs2107098742
NM_005051.3(QARS1):c.1759-13T>C
NM_005051.3(QARS1):c.1759-13_1759-7del rs781635166
NM_005051.3(QARS1):c.1759-4A>G rs764476246
NM_005051.3(QARS1):c.1759-5T>G rs2107098282
NM_005051.3(QARS1):c.1759-9C>T
NM_005051.3(QARS1):c.1761C>T (p.Ser587=)
NM_005051.3(QARS1):c.1770C>G (p.Ile590Met)
NM_005051.3(QARS1):c.1776G>A (p.Val592=)
NM_005051.3(QARS1):c.177G>A (p.Leu59=) rs748629167
NM_005051.3(QARS1):c.1786C>T (p.Pro596Ser)
NM_005051.3(QARS1):c.17C>T (p.Ser6Phe) rs2107115484
NM_005051.3(QARS1):c.180C>T (p.Ala60=)
NM_005051.3(QARS1):c.1826C>T (p.Ala609Val) rs909987369
NM_005051.3(QARS1):c.1830C>T (p.Pro610=)
NM_005051.3(QARS1):c.183C>T (p.Ser61=) rs2107114186
NM_005051.3(QARS1):c.1846A>C (p.Arg616=) rs765952139
NM_005051.3(QARS1):c.184C>T (p.Arg62Ter) rs2042511461
NM_005051.3(QARS1):c.1854C>T (p.Asp618=)
NM_005051.3(QARS1):c.1855T>C (p.Phe619Leu) rs758004160
NM_005051.3(QARS1):c.185G>A (p.Arg62Gln) rs1060502307
NM_005051.3(QARS1):c.1863+10G>C rs749903302
NM_005051.3(QARS1):c.1863+10G>T
NM_005051.3(QARS1):c.1863+13G>C
NM_005051.3(QARS1):c.1863+17G>C rs2107097842
NM_005051.3(QARS1):c.1864-10del
NM_005051.3(QARS1):c.1864-14C>T
NM_005051.3(QARS1):c.1864-19C>T
NM_005051.3(QARS1):c.1864-3T>G
NM_005051.3(QARS1):c.1864-5T>C
NM_005051.3(QARS1):c.1864-7T>C
NM_005051.3(QARS1):c.1864-7T>G rs756620094
NM_005051.3(QARS1):c.1864-9T>C
NM_005051.3(QARS1):c.1870G>C (p.Glu624Gln) rs544950843
NM_005051.3(QARS1):c.1872G>T (p.Glu624Asp) rs537960607
NM_005051.3(QARS1):c.1885C>T (p.Arg629Cys) rs979330776
NM_005051.3(QARS1):c.1886G>T (p.Arg629Leu)
NM_005051.3(QARS1):c.1888C>T (p.Leu630=)
NM_005051.3(QARS1):c.1896G>A (p.Trp632Ter)
NM_005051.3(QARS1):c.1925G>C (p.Gly642Ala) rs2042423880
NM_005051.3(QARS1):c.1929C>T (p.Tyr643=) rs760702138
NM_005051.3(QARS1):c.1930G>A (p.Val644Ile)
NM_005051.3(QARS1):c.1930G>T (p.Val644Phe) rs775375268
NM_005051.3(QARS1):c.1930dup (p.Val644fs)
NM_005051.3(QARS1):c.1946A>G (p.His649Arg) rs2107096780
NM_005051.3(QARS1):c.1954A>G (p.Lys652Glu)
NM_005051.3(QARS1):c.1956+16A>G
NM_005051.3(QARS1):c.1956+7G>A
NM_005051.3(QARS1):c.1957-10C>A rs367835872
NM_005051.3(QARS1):c.1957-10C>G rs367835872
NM_005051.3(QARS1):c.1957-11C>A
NM_005051.3(QARS1):c.1957-11C>G
NM_005051.3(QARS1):c.1957-13C>T
NM_005051.3(QARS1):c.1957-14C>A
NM_005051.3(QARS1):c.1957-14dup rs1553751493
NM_005051.3(QARS1):c.1957-20T>C
NM_005051.3(QARS1):c.1957-22_1957-20del rs753102798
NM_005051.3(QARS1):c.1957-9C>A rs367776807
NM_005051.3(QARS1):c.1957-9C>G
NM_005051.3(QARS1):c.1957-9C>T rs367776807
NM_005051.3(QARS1):c.1958G>T (p.Gly653Val) rs770657741
NM_005051.3(QARS1):c.195T>C (p.Asp65=)
NM_005051.3(QARS1):c.1965T>C (p.Ser655=)
NM_005051.3(QARS1):c.1967G>C (p.Gly656Ala) rs1298749529
NM_005051.3(QARS1):c.1978A>T (p.Ser660Cys) rs2042421299
NM_005051.3(QARS1):c.1978_1979del (p.Leu661fs) rs1217013234
NM_005051.3(QARS1):c.1979G>C (p.Ser660Thr) rs755672487
NM_005051.3(QARS1):c.199C>G (p.Arg67Gly) rs780618692
NM_005051.3(QARS1):c.2004A>G (p.Ala668=)
NM_005051.3(QARS1):c.202C>G (p.Arg68Gly)
NM_005051.3(QARS1):c.2031T>C (p.Phe677=) rs1477080186
NM_005051.3(QARS1):c.2046A>G (p.Ser682=)
NM_005051.3(QARS1):c.2052T>A (p.Pro684=)
NM_005051.3(QARS1):c.205C>T (p.Leu69Phe) rs1223986953
NM_005051.3(QARS1):c.2061T>C (p.Cys687=)
NM_005051.3(QARS1):c.2081G>A (p.Arg694Gln) rs772994973
NM_005051.3(QARS1):c.2084+12G>A
NM_005051.3(QARS1):c.2084+14G>A
NM_005051.3(QARS1):c.2084+19G>A
NM_005051.3(QARS1):c.2084+1G>A
NM_005051.3(QARS1):c.2084+1G>T
NM_005051.3(QARS1):c.2084+2_2084+3del rs2107095933
NM_005051.3(QARS1):c.2085-17C>T
NM_005051.3(QARS1):c.2085-2A>G
NM_005051.3(QARS1):c.2085-4G>A
NM_005051.3(QARS1):c.2085-6C>T
NM_005051.3(QARS1):c.2087T>G (p.Phe696Cys)
NM_005051.3(QARS1):c.2089C>T (p.Gln697Ter)
NM_005051.3(QARS1):c.2092C>T (p.His698Tyr)
NM_005051.3(QARS1):c.2093A>C (p.His698Pro) rs2042417727
NM_005051.3(QARS1):c.2097G>A (p.Lys699=) rs2107095560
NM_005051.3(QARS1):c.209C>T (p.Ser70Phe) rs748894610
NM_005051.3(QARS1):c.2100C>T (p.Asn700=)
NM_005051.3(QARS1):c.2103T>C (p.Pro701=)
NM_005051.3(QARS1):c.2104G>A (p.Glu702Lys) rs2107095526
NM_005051.3(QARS1):c.2114C>A (p.Thr705Asn)
NM_005051.3(QARS1):c.2116G>A (p.Glu706Lys)
NM_005051.3(QARS1):c.2122C>G (p.Pro708Ala) rs778699748
NM_005051.3(QARS1):c.2124T>C (p.Pro708=)
NM_005051.3(QARS1):c.2130A>C (p.Gly710=)
NM_005051.3(QARS1):c.2136A>G (p.Leu712=)
NM_005051.3(QARS1):c.2142C>A (p.Asp714Glu)
NM_005051.3(QARS1):c.2143C>T (p.Leu715=)
NM_005051.3(QARS1):c.2149C>G (p.Leu717Val) rs760143907
NM_005051.3(QARS1):c.214C>T (p.Leu72Phe) rs1362208293
NM_005051.3(QARS1):c.2151+12A>G
NM_005051.3(QARS1):c.2151+13G>A rs1465310490
NM_005051.3(QARS1):c.2151+17_2151+18del
NM_005051.3(QARS1):c.2151+8C>T
NM_005051.3(QARS1):c.2152-10C>T rs749104266
NM_005051.3(QARS1):c.2152-12C>G rs2107095116
NM_005051.3(QARS1):c.2152-18T>C
NM_005051.3(QARS1):c.2152-19del rs2107095132
NM_005051.3(QARS1):c.2152-20C>A rs2107095137
NM_005051.3(QARS1):c.2152-20C>T
NM_005051.3(QARS1):c.2152G>C (p.Ala718Pro) rs2042415174
NM_005051.3(QARS1):c.2154A>G (p.Ala718=)
NM_005051.3(QARS1):c.2166G>A (p.Val722=)
NM_005051.3(QARS1):c.2167G>C (p.Val723Leu)
NM_005051.3(QARS1):c.2170G>C (p.Asp724His) rs2042414914
NM_005051.3(QARS1):c.2173G>C (p.Ala725Pro) rs2042414825
NM_005051.3(QARS1):c.2184G>C (p.Val728=) rs1377061002
NM_005051.3(QARS1):c.21G>A (p.Leu7=) rs2107115428
NM_005051.3(QARS1):c.2210C>A (p.Pro737His) rs772699618
NM_005051.3(QARS1):c.2220G>C (p.Lys740Asn)
NM_005051.3(QARS1):c.2226G>T (p.Gln742His) rs370685207
NM_005051.3(QARS1):c.2238T>C (p.Leu746=)
NM_005051.3(QARS1):c.2249C>T (p.Ser750Phe) rs1293778465
NM_005051.3(QARS1):c.224A>G (p.Tyr75Cys) rs2042510780
NM_005051.3(QARS1):c.2265C>G (p.Ser755Arg) rs2042413109
NM_005051.3(QARS1):c.2270A>G (p.Gln757Arg) rs1426097729
NM_005051.3(QARS1):c.2277+16_2277+17delinsAC
NM_005051.3(QARS1):c.2277+17A>G
NM_005051.3(QARS1):c.2277+18C>A
NM_005051.3(QARS1):c.2277+3G>A rs2042412962
NM_005051.3(QARS1):c.2277+9C>T rs752322988
NM_005051.3(QARS1):c.2277G>T (p.Lys759Asn)
NM_005051.3(QARS1):c.2278-13C>G
NM_005051.3(QARS1):c.2278-21_2278-19dup rs1166032765
NM_005051.3(QARS1):c.2278-4C>T
NM_005051.3(QARS1):c.228A>G (p.Ile76Met)
NM_005051.3(QARS1):c.2312A>C (p.Asp771Ala)
NM_005051.3(QARS1):c.2313C>T (p.Asp771=)
NM_005051.3(QARS1):c.2325G>A (p.Val775=)
NM_005051.3(QARS1):c.232A>G (p.Ser78Gly) rs767410688
NM_005051.3(QARS1):c.23C>T (p.Ser8Leu) rs773096335
NM_005051.3(QARS1):c.243C>A (p.Ile81=)
NM_005051.3(QARS1):c.243C>T (p.Ile81=) rs754974684
NM_005051.3(QARS1):c.250G>A (p.Glu84Lys) rs2042510296
NM_005051.3(QARS1):c.252_253insAAG (p.Glu84_Pro85insLys) rs2042510195
NM_005051.3(QARS1):c.253C>T (p.Pro85Ser) rs1264945460
NM_005051.3(QARS1):c.255C>G (p.Pro85=)
NM_005051.3(QARS1):c.256del (p.Gln86fs) rs2042510074
NM_005051.3(QARS1):c.259C>T (p.Leu87=)
NM_005051.3(QARS1):c.25C>G (p.Leu9Val) rs62621067
NM_005051.3(QARS1):c.264C>A (p.Ser88Arg) rs1483058377
NM_005051.3(QARS1):c.265+10C>T rs2107113755
NM_005051.3(QARS1):c.265+14C>T
NM_005051.3(QARS1):c.265+18C>A
NM_005051.3(QARS1):c.265+19C>T rs1297129770
NM_005051.3(QARS1):c.265+7C>T
NM_005051.3(QARS1):c.266-18C>G rs965125528
NM_005051.3(QARS1):c.266-20C>G rs2107112964
NM_005051.3(QARS1):c.266-9_266-6del
NM_005051.3(QARS1):c.270C>T (p.Ala90=) rs2042505160
NM_005051.3(QARS1):c.273T>C (p.Leu91=)
NM_005051.3(QARS1):c.296T>C (p.Leu99Ser) rs2107112761
NM_005051.3(QARS1):c.2T>C (p.Met1Thr) rs2042518770
NM_005051.3(QARS1):c.30C>T (p.Phe10=)
NM_005051.3(QARS1):c.315G>A (p.Val105=) rs2107112640
NM_005051.3(QARS1):c.319T>C (p.Phe107Leu)
NM_005051.3(QARS1):c.31A>G (p.Thr11Ala) rs2042517964
NM_005051.3(QARS1):c.321C>A (p.Phe107Leu) rs201359259
NM_005051.3(QARS1):c.336C>T (p.Gly112=)
NM_005051.3(QARS1):c.337G>C (p.Val113Leu) rs767616063
NM_005051.3(QARS1):c.33T>C (p.Thr11=)
NM_005051.3(QARS1):c.345C>A (p.Val115=)
NM_005051.3(QARS1):c.346A>G (p.Ile116Val)
NM_005051.3(QARS1):c.352del (p.Thr118fs)
NM_005051.3(QARS1):c.372G>A (p.Glu124=)
NM_005051.3(QARS1):c.375+13C>G
NM_005051.3(QARS1):c.375+13C>T
NM_005051.3(QARS1):c.375+8T>G
NM_005051.3(QARS1):c.376-15T>C
NM_005051.3(QARS1):c.376-19A>C
NM_005051.3(QARS1):c.376-1G>A rs2107112006
NM_005051.3(QARS1):c.376-20C>T rs2107112057
NM_005051.3(QARS1):c.377T>C (p.Val126Ala) rs749082327
NM_005051.3(QARS1):c.378G>A (p.Val126=)
NM_005051.3(QARS1):c.384T>C (p.Ala128=) rs2107111944
NM_005051.3(QARS1):c.3G>A (p.Met1Ile)
NM_005051.3(QARS1):c.405C>T (p.Pro135=) rs1559970173
NM_005051.3(QARS1):c.406del (p.Gln136fs)
NM_005051.3(QARS1):c.408G>A (p.Gln136=) rs766846621
NM_005051.3(QARS1):c.40G>A (p.Gly14Ser) rs1553752741
NM_005051.3(QARS1):c.411C>G (p.Leu137=)
NM_005051.3(QARS1):c.414G>A (p.Leu138=)
NM_005051.3(QARS1):c.417G>A (p.Val139=) rs758959179
NM_005051.3(QARS1):c.420A>G (p.Glu140=)
NM_005051.3(QARS1):c.425A>T (p.Tyr142Phe)
NM_005051.3(QARS1):c.425dup (p.Tyr142Ter) rs2042500119
NM_005051.3(QARS1):c.426C>T (p.Tyr142=)
NM_005051.3(QARS1):c.42C>T (p.Gly14=)
NM_005051.3(QARS1):c.441del (p.Leu148fs) rs2107111718
NM_005051.3(QARS1):c.442C>T (p.Leu148=)
NM_005051.3(QARS1):c.451+10G>A
NM_005051.3(QARS1):c.451+11C>T rs1222502699
NM_005051.3(QARS1):c.451+15G>C
NM_005051.3(QARS1):c.451+15G>T
NM_005051.3(QARS1):c.452-13C>T
NM_005051.3(QARS1):c.452-20C>T rs1001075230
NM_005051.3(QARS1):c.452-8G>A rs1408295828
NM_005051.3(QARS1):c.455A>C (p.Glu152Ala) rs2042496370
NM_005051.3(QARS1):c.456G>A (p.Glu152=)
NM_005051.3(QARS1):c.469C>T (p.Leu157=) rs1382502921
NM_005051.3(QARS1):c.471G>A (p.Leu157=)
NM_005051.3(QARS1):c.471G>C (p.Leu157=) rs1337917654
NM_005051.3(QARS1):c.511A>G (p.Met171Val) rs2107111057
NM_005051.3(QARS1):c.514C>T (p.Gln172Ter) rs2107111037
NM_005051.3(QARS1):c.516+15C>G
NM_005051.3(QARS1):c.516+16T>C
NM_005051.3(QARS1):c.518T>G (p.Val173Gly) rs2107109072
NM_005051.3(QARS1):c.552T>C (p.Asp184=)
NM_005051.3(QARS1):c.553C>A (p.Leu185Met)
NM_005051.3(QARS1):c.555G>A (p.Leu185=)
NM_005051.3(QARS1):c.559AAG[1] (p.Lys188del)
NM_005051.3(QARS1):c.55_57del (p.Lys19del) rs1170759657
NM_005051.3(QARS1):c.562_563inv (p.Lys188Leu)
NM_005051.3(QARS1):c.567C>T (p.Phe189=) rs892777693
NM_005051.3(QARS1):c.570+10G>A rs375202901
NM_005051.3(QARS1):c.570+10G>C
NM_005051.3(QARS1):c.570+14T>C
NM_005051.3(QARS1):c.570+17C>T
NM_005051.3(QARS1):c.570+1G>A rs2107108875
NM_005051.3(QARS1):c.570+2_570+4dup rs2107108872
NM_005051.3(QARS1):c.570+5G>A rs2107108867
NM_005051.3(QARS1):c.571-11G>A
NM_005051.3(QARS1):c.571-13G>A
NM_005051.3(QARS1):c.571-15T>G
NM_005051.3(QARS1):c.571-3C>G rs1060502309
NM_005051.3(QARS1):c.571-4T>C
NM_005051.3(QARS1):c.57G>A (p.Lys19=)
NM_005051.3(QARS1):c.584G>A (p.Arg195Gln) rs781731563
NM_005051.3(QARS1):c.585del (p.Arg195_Leu196insTer) rs1241706645
NM_005051.3(QARS1):c.5C>A (p.Ala2Glu)
NM_005051.3(QARS1):c.611C>T (p.Ala204Val) rs911977359
NM_005051.3(QARS1):c.615G>A (p.Lys205=)
NM_005051.3(QARS1):c.61C>A (p.Arg21Ser)
NM_005051.3(QARS1):c.623T>C (p.Val208Ala) rs2042480502
NM_005051.3(QARS1):c.631+16C>G
NM_005051.3(QARS1):c.631+1G>C rs1230015326
NM_005051.3(QARS1):c.631+8G>C
NM_005051.3(QARS1):c.632-10dup rs775642346
NM_005051.3(QARS1):c.632-11G>T
NM_005051.3(QARS1):c.632-13T>C rs532499007
NM_005051.3(QARS1):c.632-13T>G
NM_005051.3(QARS1):c.632-17T>C
NM_005051.3(QARS1):c.632-6C>T
NM_005051.3(QARS1):c.632-8C>A
NM_005051.3(QARS1):c.632-8C>T
NM_005051.3(QARS1):c.633C>G (p.Gly211=) rs752655908
NM_005051.3(QARS1):c.633C>T (p.Gly211=) rs752655908
NM_005051.3(QARS1):c.666G>A (p.Glu222=)
NM_005051.3(QARS1):c.675G>T (p.Arg225=)
NM_005051.3(QARS1):c.679del (p.Glu227fs) rs772343264
NM_005051.3(QARS1):c.695A>G (p.His232Arg) rs2107107384
NM_005051.3(QARS1):c.6G>T (p.Ala2=) rs1575404829
NM_005051.3(QARS1):c.703+10C>G
NM_005051.3(QARS1):c.703+12T>C rs769326974
NM_005051.3(QARS1):c.703+12T>G
NM_005051.3(QARS1):c.703+15C>T
NM_005051.3(QARS1):c.703+6T>C
NM_005051.3(QARS1):c.703+7G>A
NM_005051.3(QARS1):c.704-4G>A rs2107107147
NM_005051.3(QARS1):c.722C>T (p.Pro241Leu) rs1553752233
NM_005051.3(QARS1):c.725G>A (p.Gly242Asp)
NM_005051.3(QARS1):c.737C>T (p.Thr246Ile)
NM_005051.3(QARS1):c.756A>G (p.Leu252=) rs2107106945
NM_005051.3(QARS1):c.757C>T (p.Leu253=) rs2107106936
NM_005051.3(QARS1):c.759A>G (p.Leu253=)
NM_005051.3(QARS1):c.786del (p.Gln263fs)
NM_005051.3(QARS1):c.787_789+3del
NM_005051.3(QARS1):c.789+11A>G
NM_005051.3(QARS1):c.789+13G>A
NM_005051.3(QARS1):c.789+1G>T rs2042472129
NM_005051.3(QARS1):c.790-10del rs748134575
NM_005051.3(QARS1):c.790-12C>T
NM_005051.3(QARS1):c.790-13C>T
NM_005051.3(QARS1):c.790-2_806dup rs1553752165
NM_005051.3(QARS1):c.790-9T>C
NM_005051.3(QARS1):c.793C>A (p.Arg265Ser) rs1559968699
NM_005051.3(QARS1):c.793C>T (p.Arg265Cys) rs1559968699
NM_005051.3(QARS1):c.799C>T (p.Arg267Trp)
NM_005051.3(QARS1):c.806C>T (p.Pro269Leu)
NM_005051.3(QARS1):c.807G>A (p.Pro269=) rs752771374
NM_005051.3(QARS1):c.815C>G (p.Pro272Arg)
NM_005051.3(QARS1):c.818A>C (p.Asn273Thr)
NM_005051.3(QARS1):c.827T>C (p.Leu276Pro) rs2042468624
NM_005051.3(QARS1):c.832A>G (p.Ile278Val)
NM_005051.3(QARS1):c.833T>C (p.Ile278Thr) rs2107106208
NM_005051.3(QARS1):c.835G>A (p.Gly279Arg) rs2042468435
NM_005051.3(QARS1):c.839A>T (p.His280Leu) rs2107106158
NM_005051.3(QARS1):c.846A>G (p.Lys282=)
NM_005051.3(QARS1):c.84T>C (p.Ala28=) rs2107115030
NM_005051.3(QARS1):c.858C>T (p.Phe286=)
NM_005051.3(QARS1):c.862T>C (p.Phe288Leu)
NM_005051.3(QARS1):c.876+10T>C
NM_005051.3(QARS1):c.876+17G>A
NM_005051.3(QARS1):c.876+9G>C
NM_005051.3(QARS1):c.877-4C>T
NM_005051.3(QARS1):c.877-5C>T rs2107104334
NM_005051.3(QARS1):c.877-6T>C
NM_005051.3(QARS1):c.877-9C>G
NM_005051.3(QARS1):c.884A>G (p.Asn295Ser)
NM_005051.3(QARS1):c.889A>G (p.Ile297Val) rs962335441
NM_005051.3(QARS1):c.895T>C (p.Phe299Leu)
NM_005051.3(QARS1):c.905T>C (p.Phe302Ser) rs2107104202
NM_005051.3(QARS1):c.915C>T (p.Thr305=)
NM_005051.3(QARS1):c.918C>T (p.Asn306=)
NM_005051.3(QARS1):c.921T>C (p.Pro307=)
NM_005051.3(QARS1):c.924G>A (p.Glu308=) rs1207601282
NM_005051.3(QARS1):c.937A>C (p.Lys313Gln) rs746386543
NM_005051.3(QARS1):c.939G>A (p.Lys313=) rs765145509
NM_005051.3(QARS1):c.94C>T (p.Gln32Ter)
NM_005051.3(QARS1):c.950C>T (p.Ala317Val)
NM_005051.3(QARS1):c.96G>T (p.Gln32His) rs201606430
NM_005051.3(QARS1):c.96_97delinsAA (p.Leu33Met) rs2107114987
NM_005051.3(QARS1):c.972G>A (p.Trp324Ter)
NM_005051.3(QARS1):c.973C>T (p.Leu325=) rs2107103966
NM_005051.3(QARS1):c.976+17G>C rs527696905
NM_005051.3(QARS1):c.977-13_977-10del
NM_005051.3(QARS1):c.977-17G>A
NM_005051.3(QARS1):c.977-18dup rs750040700
NM_005051.3(QARS1):c.977-3C>G rs1333221962
NM_005051.3(QARS1):c.977-4C>T
NM_005051.3(QARS1):c.977-4_977-3dup rs955013342
NM_005051.3(QARS1):c.977-6C>T
NM_005051.3(QARS1):c.979T>C (p.Tyr327His) rs1435075957
NM_005051.3(QARS1):c.981C>T (p.Tyr327=)
NM_005051.3(QARS1):c.991A>C (p.Lys331Gln)
NM_005051.3(QARS1):c.991A>G (p.Lys331Glu)
NM_005051.3(QARS1):c.992A>G (p.Lys331Arg) rs2107103604
NM_005051.3(QARS1):c.996C>T (p.Val332=)
NM_005051.3(QARS1):c.999A>G (p.Thr333=)

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