ClinVar Miner

List of variants in gene CARS2 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 597
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.987+292T>G rs376834 0.81351
NM_024537.4(CARS2):c.987+247T>C rs2296658 0.77296
NM_024537.4(CARS2):c.852A>G (p.Glu284=) rs4628819 0.77143
NM_024537.4(CARS2):c.1239T>C (p.Asp413=) rs436462 0.42363
NM_024537.4(CARS2):c.417C>T (p.Leu139=) rs2304767 0.23275
NM_024537.4(CARS2):c.1664A>C (p.Gln555Pro) rs1043886 0.10889
NM_024537.4(CARS2):c.538A>T (p.Ile180Phe) rs72661692 0.07201
NM_024537.4(CARS2):c.647G>A (p.Gly216Glu) rs146773721 0.01595
NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys) rs79081036 0.01302
NM_024537.4(CARS2):c.1624-12C>G rs115116722 0.00724
NM_024537.4(CARS2):c.1681A>G (p.Lys561Glu) rs188068027 0.00590
NM_024537.4(CARS2):c.1317+10C>T rs141996297 0.00555
NM_024537.4(CARS2):c.1054+8G>A rs374859 0.00434
NM_024537.4(CARS2):c.1417-17C>T rs113709957 0.00417
NM_024537.4(CARS2):c.1489G>A (p.Val497Ile) rs146355429 0.00386
NM_024537.4(CARS2):c.1128C>T (p.Asp376=) rs142070578 0.00308
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_024537.4(CARS2):c.930C>T (p.His310=) rs143532600 0.00232
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr) rs147216443 0.00166
NM_024537.4(CARS2):c.1318-12G>A rs191969046 0.00161
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00094
NM_024537.4(CARS2):c.586G>A (p.Asp196Asn) rs140082252 0.00087
NM_024537.4(CARS2):c.574A>G (p.Asn192Asp) rs150286306 0.00081
NM_024537.4(CARS2):c.465+14C>T rs41315944 0.00061
NM_024537.4(CARS2):c.1538G>A (p.Arg513Gln) rs138022576 0.00060
NM_024537.4(CARS2):c.244G>A (p.Val82Ile) rs117788141 0.00055
NM_024537.4(CARS2):c.540T>G (p.Ile180Met) rs145988159 0.00049
NM_024537.4(CARS2):c.564G>A (p.Thr188=) rs76988055 0.00049
NM_024537.4(CARS2):c.1287C>T (p.His429=) rs143945861 0.00041
NM_024537.4(CARS2):c.1318-18C>T rs185912329 0.00034
NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu) rs151097801 0.00033
NM_024537.4(CARS2):c.571+11T>C rs373960867 0.00031
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_024537.4(CARS2):c.1308G>A (p.Ala436=) rs141349632 0.00027
NM_024537.4(CARS2):c.1074C>T (p.Ser358=) rs143638615 0.00025
NM_024537.4(CARS2):c.1516G>A (p.Glu506Lys) rs368624802 0.00022
NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln) rs200491395 0.00021
NM_024537.4(CARS2):c.1475G>A (p.Arg492Gln) rs564455691 0.00017
NM_024537.4(CARS2):c.741A>T (p.Gly247=) rs998783511 0.00016
NM_024537.4(CARS2):c.1141A>G (p.Met381Val) rs148857540 0.00015
NM_024537.4(CARS2):c.1566G>A (p.Leu522=) rs377120724 0.00014
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) rs766266851 0.00013
NM_024537.4(CARS2):c.466-18G>A rs370423607 0.00013
NM_024537.4(CARS2):c.628G>A (p.Val210Met) rs142962763 0.00013
NM_024537.4(CARS2):c.780C>T (p.Ile260=) rs145315422 0.00013
NM_024537.4(CARS2):c.393+15G>A rs368419708 0.00012
NM_024537.4(CARS2):c.1059C>T (p.Ile353=) rs200079151 0.00009
NM_024537.4(CARS2):c.1194-17C>G rs377292484 0.00009
NM_024537.4(CARS2):c.1592G>A (p.Arg531Gln) rs371876889 0.00009
NM_024537.4(CARS2):c.1609G>A (p.Gly537Ser) rs777503937 0.00008
NM_024537.4(CARS2):c.446A>G (p.Gln149Arg) rs367861934 0.00008
NM_024537.4(CARS2):c.1195C>T (p.Leu399Phe) rs202176952 0.00007
NM_024537.4(CARS2):c.1503G>A (p.Ala501=) rs753425826 0.00007
NM_024537.4(CARS2):c.393+9A>G rs372649262 0.00007
NM_024537.4(CARS2):c.739G>A (p.Gly247Arg) rs372177940 0.00007
NM_024537.4(CARS2):c.753G>A (p.Pro251=) rs149601283 0.00007
NM_024537.4(CARS2):c.1167C>T (p.Ser389=) rs41275134 0.00006
NM_024537.4(CARS2):c.1193+12G>A rs368032057 0.00006
NM_024537.4(CARS2):c.1259T>C (p.Val420Ala) rs146878400 0.00006
NM_024537.4(CARS2):c.1505T>C (p.Leu502Pro) rs763717023 0.00006
NM_024537.4(CARS2):c.1524G>A (p.Thr508=) rs372410471 0.00006
NM_024537.4(CARS2):c.1579G>A (p.Asp527Asn) rs150780076 0.00006
NM_024537.4(CARS2):c.1589G>A (p.Arg530His) rs760818887 0.00006
NM_024537.4(CARS2):c.288A>G (p.Arg96=) rs759533298 0.00006
NM_024537.4(CARS2):c.785+15G>A rs371196794 0.00006
NM_024537.4(CARS2):c.1013A>G (p.Asp338Gly) rs373398364 0.00005
NM_024537.4(CARS2):c.1266C>T (p.Ala422=) rs773655449 0.00005
NM_024537.4(CARS2):c.1432G>A (p.Gly478Ser) rs372734645 0.00005
NM_024537.4(CARS2):c.1590C>T (p.Arg530=) rs775479641 0.00005
NM_024537.4(CARS2):c.1608C>T (p.His536=) rs748996703 0.00005
NM_024537.4(CARS2):c.224+4G>A rs1225069963 0.00005
NM_024537.4(CARS2):c.465+16G>A rs371021982 0.00005
NM_024537.4(CARS2):c.657G>A (p.Ala219=) rs375938059 0.00005
NM_024537.4(CARS2):c.1011C>T (p.Pro337=) rs142857490 0.00004
NM_024537.4(CARS2):c.1054+16G>A rs772521220 0.00004
NM_024537.4(CARS2):c.1194-3C>T rs372760421 0.00004
NM_024537.4(CARS2):c.1317+11G>A rs757028283 0.00004
NM_024537.4(CARS2):c.1407A>C (p.Ala469=) rs780686611 0.00004
NM_024537.4(CARS2):c.1417-11G>A rs764789216 0.00004
NM_024537.4(CARS2):c.1417-16G>A rs375781277 0.00004
NM_024537.4(CARS2):c.1417-19C>T rs371859424 0.00004
NM_024537.4(CARS2):c.1515C>T (p.Pro505=) rs763434479 0.00004
NM_024537.4(CARS2):c.1646C>T (p.Thr549Met) rs371625448 0.00004
NM_024537.4(CARS2):c.1647G>A (p.Thr549=) rs201728933 0.00004
NM_024537.4(CARS2):c.404C>T (p.Ser135Phe) rs781364169 0.00004
NM_024537.4(CARS2):c.582C>T (p.Tyr194=) rs1011442343 0.00004
NM_024537.4(CARS2):c.585C>T (p.Phe195=) rs199893369 0.00004
NM_024537.4(CARS2):c.1037G>A (p.Arg346Gln) rs773315723 0.00003
NM_024537.4(CARS2):c.1040G>A (p.Ser347Asn) rs1052359973 0.00003
NM_024537.4(CARS2):c.1055-7T>C rs775563211 0.00003
NM_024537.4(CARS2):c.1431C>T (p.Asp477=) rs771193928 0.00003
NM_024537.4(CARS2):c.1437C>T (p.Ser479=) rs756303536 0.00003
NM_024537.4(CARS2):c.1446C>G (p.Thr482=) rs372084282 0.00003
NM_024537.4(CARS2):c.1474C>T (p.Arg492Trp) rs200151026 0.00003
NM_024537.4(CARS2):c.1523C>T (p.Thr508Met) rs376713706 0.00003
NM_024537.4(CARS2):c.1530C>T (p.Asp510=) rs539168705 0.00003
NM_024537.4(CARS2):c.1623+1G>C rs1053982606 0.00003
NM_024537.4(CARS2):c.1649G>A (p.Trp550Ter) rs375213252 0.00003
NM_024537.4(CARS2):c.1688C>T (p.Ala563Val) rs542366222 0.00003
NM_024537.4(CARS2):c.269A>G (p.His90Arg) rs752180849 0.00003
NM_024537.4(CARS2):c.466G>T (p.Val156Phe) rs148098469 0.00003
NM_024537.4(CARS2):c.528T>C (p.Ile176=) rs759194567 0.00003
NM_024537.4(CARS2):c.571+6G>T rs756061981 0.00003
NM_024537.4(CARS2):c.701C>T (p.Ala234Val) rs2062972972 0.00003
NM_024537.4(CARS2):c.988-10G>A rs568891064 0.00003
NM_024537.4(CARS2):c.1021C>T (p.Arg341Trp) rs138951398 0.00002
NM_024537.4(CARS2):c.1032C>T (p.Cys344=) rs767988744 0.00002
NM_024537.4(CARS2):c.1054+10G>A rs1337809361 0.00002
NM_024537.4(CARS2):c.1112G>A (p.Gly371Asp) rs765515018 0.00002
NM_024537.4(CARS2):c.1118T>C (p.Phe373Ser) rs753952896 0.00002
NM_024537.4(CARS2):c.1129G>A (p.Ala377Thr) rs547702190 0.00002
NM_024537.4(CARS2):c.1133G>A (p.Arg378His) rs770630631 0.00002
NM_024537.4(CARS2):c.1193+11C>T rs1320830088 0.00002
NM_024537.4(CARS2):c.1194-7C>T rs568526596 0.00002
NM_024537.4(CARS2):c.1464C>T (p.Asp488=) rs374641891 0.00002
NM_024537.4(CARS2):c.1465G>A (p.Glu489Lys) rs144664137 0.00002
NM_024537.4(CARS2):c.1481G>A (p.Arg494Gln) rs748191524 0.00002
NM_024537.4(CARS2):c.1541A>G (p.Gln514Arg) rs753574371 0.00002
NM_024537.4(CARS2):c.1575A>G (p.Ala525=) rs765758054 0.00002
NM_024537.4(CARS2):c.1578C>T (p.Cys526=) rs547578192 0.00002
NM_024537.4(CARS2):c.1689G>A (p.Ala563=) rs774357584 0.00002
NM_024537.4(CARS2):c.198C>A (p.Ile66=) rs762673064 0.00002
NM_024537.4(CARS2):c.224+3G>A rs772740990 0.00002
NM_024537.4(CARS2):c.292G>C (p.Asp98His) rs774407462 0.00002
NM_024537.4(CARS2):c.442A>G (p.Lys148Glu) rs763725050 0.00002
NM_024537.4(CARS2):c.470T>A (p.Leu157His) rs769254654 0.00002
NM_024537.4(CARS2):c.537C>T (p.Ile179=) rs142925085 0.00002
NM_024537.4(CARS2):c.545G>A (p.Arg182His) rs769307767 0.00002
NM_024537.4(CARS2):c.656-16C>T rs755708345 0.00002
NM_024537.4(CARS2):c.671G>A (p.Arg224His) rs199589765 0.00002
NM_024537.4(CARS2):c.765C>A (p.Ile255=) rs764405976 0.00002
NM_024537.4(CARS2):c.855C>T (p.Asn285=) rs201463850 0.00002
NM_024537.4(CARS2):c.870C>T (p.Cys290=) rs200515246 0.00002
NM_024537.4(CARS2):c.1008C>T (p.Ser336=) rs1313306865 0.00001
NM_024537.4(CARS2):c.1012G>A (p.Asp338Asn) rs577161897 0.00001
NM_024537.4(CARS2):c.1036C>T (p.Arg346Trp) rs759804272 0.00001
NM_024537.4(CARS2):c.1048C>T (p.Arg350Cys) rs773231493 0.00001
NM_024537.4(CARS2):c.1049G>A (p.Arg350His) rs1195058620 0.00001
NM_024537.4(CARS2):c.1054+7C>T rs369116566 0.00001
NM_024537.4(CARS2):c.1061A>G (p.Asp354Gly) rs745633983 0.00001
NM_024537.4(CARS2):c.1065C>T (p.Tyr355=) rs568277703 0.00001
NM_024537.4(CARS2):c.1080G>A (p.Met360Ile) rs1888255028 0.00001
NM_024537.4(CARS2):c.1084C>T (p.Gln362Ter) rs1439475292 0.00001
NM_024537.4(CARS2):c.1101C>T (p.Leu367=) rs527311442 0.00001
NM_024537.4(CARS2):c.1135G>A (p.Ala379Thr) rs748825203 0.00001
NM_024537.4(CARS2):c.1161C>T (p.Cys387=) rs772515282 0.00001
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser) rs746241006 0.00001
NM_024537.4(CARS2):c.1193+10C>T rs1888233172 0.00001
NM_024537.4(CARS2):c.1206C>T (p.Thr402=) rs556643017 0.00001
NM_024537.4(CARS2):c.1207A>G (p.Lys403Glu) rs762700157 0.00001
NM_024537.4(CARS2):c.1218G>A (p.Val406=) rs144612077 0.00001
NM_024537.4(CARS2):c.1224G>A (p.Ala408=) rs193086198 0.00001
NM_024537.4(CARS2):c.1233A>C (p.Ala411=) rs1304133948 0.00001
NM_024537.4(CARS2):c.1250C>G (p.Pro417Arg) rs766539038 0.00001
NM_024537.4(CARS2):c.1257G>A (p.Val419=) rs774758878 0.00001
NM_024537.4(CARS2):c.1278T>G (p.Leu426=) rs1213717785 0.00001
NM_024537.4(CARS2):c.1288G>A (p.Gly430Arg) rs113033050 0.00001
NM_024537.4(CARS2):c.1292A>G (p.Asn431Ser) rs548716694 0.00001
NM_024537.4(CARS2):c.1307C>T (p.Ala436Val) rs530176962 0.00001
NM_024537.4(CARS2):c.1318-10T>A rs773908976 0.00001
NM_024537.4(CARS2):c.1318-17G>A rs182585150 0.00001
NM_024537.4(CARS2):c.1321C>A (p.Pro441Thr) rs777089715 0.00001
NM_024537.4(CARS2):c.1324G>C (p.Glu442Gln) rs761022161 0.00001
NM_024537.4(CARS2):c.1332G>A (p.Pro444=) rs745916376 0.00001
NM_024537.4(CARS2):c.1334G>T (p.Arg445Ile) rs1594210396 0.00001
NM_024537.4(CARS2):c.1352G>A (p.Gly451Asp) rs1328163225 0.00001
NM_024537.4(CARS2):c.1377G>C (p.Gln459His) rs1047045222 0.00001
NM_024537.4(CARS2):c.1405G>A (p.Ala469Thr) rs868665261 0.00001
NM_024537.4(CARS2):c.1413A>G (p.Gln471=) rs1218494594 0.00001
NM_024537.4(CARS2):c.1417-10C>T rs761277278 0.00001
NM_024537.4(CARS2):c.1417-6C>T rs775887829 0.00001
NM_024537.4(CARS2):c.1417-9T>C rs1453472089 0.00001
NM_024537.4(CARS2):c.1442C>T (p.Ala481Val) rs1263877433 0.00001
NM_024537.4(CARS2):c.1452T>C (p.His484=) rs750129111 0.00001
NM_024537.4(CARS2):c.1463A>G (p.Asp488Gly) rs1484021017 0.00001
NM_024537.4(CARS2):c.1473G>A (p.Val491=) rs774705663 0.00001
NM_024537.4(CARS2):c.1480C>T (p.Arg494Trp) rs200697273 0.00001
NM_024537.4(CARS2):c.1492C>T (p.Arg498Trp) rs758217572 0.00001
NM_024537.4(CARS2):c.1509C>T (p.Ala503=) rs766953234 0.00001
NM_024537.4(CARS2):c.1534C>T (p.Arg512Trp) rs199527718 0.00001
NM_024537.4(CARS2):c.1537C>T (p.Arg513Trp) rs143777330 0.00001
NM_024537.4(CARS2):c.1561C>T (p.Pro521Ser) rs767008467 0.00001
NM_024537.4(CARS2):c.1581C>T (p.Asp527=) rs201472735 0.00001
NM_024537.4(CARS2):c.1588C>T (p.Arg530Cys) rs1368294658 0.00001
NM_024537.4(CARS2):c.1591C>T (p.Arg531Trp) rs566143026 0.00001
NM_024537.4(CARS2):c.1605C>T (p.Ala535=) rs568391657 0.00001
NM_024537.4(CARS2):c.1623+10G>A rs368020365 0.00001
NM_024537.4(CARS2):c.1623+3G>A rs554100218 0.00001
NM_024537.4(CARS2):c.1623+9C>T rs1302154832 0.00001
NM_024537.4(CARS2):c.1631G>A (p.Ser544Asn) rs747870375 0.00001
NM_024537.4(CARS2):c.1659G>A (p.Leu553=) rs1474595916 0.00001
NM_024537.4(CARS2):c.1666A>G (p.Arg556Gly) rs1566629935 0.00001
NM_024537.4(CARS2):c.1667G>C (p.Arg556Thr) rs1191970053 0.00001
NM_024537.4(CARS2):c.1676A>G (p.Asp559Gly) rs756477588 0.00001
NM_024537.4(CARS2):c.1685C>G (p.Ser562Ter) rs1229833841 0.00001
NM_024537.4(CARS2):c.174C>T (p.Leu58=) rs751387497 0.00001
NM_024537.4(CARS2):c.178G>C (p.Gly60Arg) rs199874662 0.00001
NM_024537.4(CARS2):c.217G>T (p.Ala73Ser) rs761282112 0.00001
NM_024537.4(CARS2):c.225-19A>C rs45518835 0.00001
NM_024537.4(CARS2):c.301C>G (p.Arg101Gly) rs777672253 0.00001
NM_024537.4(CARS2):c.358G>A (p.Asp120Asn) rs988495210 0.00001
NM_024537.4(CARS2):c.373A>G (p.Ile125Val) rs774544603 0.00001
NM_024537.4(CARS2):c.393+1G>A rs1298568967 0.00001
NM_024537.4(CARS2):c.394-17A>C rs369266402 0.00001
NM_024537.4(CARS2):c.394-5T>C rs371348017 0.00001
NM_024537.4(CARS2):c.394-9C>T rs1317745997 0.00001
NM_024537.4(CARS2):c.394A>G (p.Met132Val) rs2063353822 0.00001
NM_024537.4(CARS2):c.398A>G (p.Asn133Ser) rs748579020 0.00001
NM_024537.4(CARS2):c.408C>T (p.Pro136=) rs755243580 0.00001
NM_024537.4(CARS2):c.451A>G (p.Met151Val) rs1238769844 0.00001
NM_024537.4(CARS2):c.465+12G>A rs891716784 0.00001
NM_024537.4(CARS2):c.465+20G>T rs770358381 0.00001
NM_024537.4(CARS2):c.466-12A>G rs760516571 0.00001
NM_024537.4(CARS2):c.478A>C (p.Thr160Pro) rs1360090647 0.00001
NM_024537.4(CARS2):c.498C>G (p.Thr166=) rs757335344 0.00001
NM_024537.4(CARS2):c.509C>T (p.Pro170Leu) rs918590287 0.00001
NM_024537.4(CARS2):c.521C>A (p.Ser174Tyr) rs1393002060 0.00001
NM_024537.4(CARS2):c.527T>C (p.Ile176Thr) rs767243208 0.00001
NM_024537.4(CARS2):c.552C>T (p.Asn184=) rs533611037 0.00001
NM_024537.4(CARS2):c.571+12G>C rs201439493 0.00001
NM_024537.4(CARS2):c.571+20T>C rs758019231 0.00001
NM_024537.4(CARS2):c.571+5G>C rs1005137257 0.00001
NM_024537.4(CARS2):c.573C>T (p.Gly191=) rs1223141816 0.00001
NM_024537.4(CARS2):c.601G>A (p.Gly201Arg) rs1305604439 0.00001
NM_024537.4(CARS2):c.624C>T (p.Val208=) rs768173954 0.00001
NM_024537.4(CARS2):c.632T>C (p.Val211Ala) rs773483383 0.00001
NM_024537.4(CARS2):c.633C>T (p.Val211=) rs769981233 0.00001
NM_024537.4(CARS2):c.634C>T (p.Pro212Ser) rs748268508 0.00001
NM_024537.4(CARS2):c.645C>T (p.Val215=) rs776642452 0.00001
NM_024537.4(CARS2):c.646G>A (p.Gly216Arg) rs768491774 0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del) rs753472937 0.00001
NM_024537.4(CARS2):c.655+4G>A rs369200736 0.00001
NM_024537.4(CARS2):c.655+6T>C rs2063202198 0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) rs727505361 0.00001
NM_024537.4(CARS2):c.656-12T>G rs758863375 0.00001
NM_024537.4(CARS2):c.656-17C>T rs777289486 0.00001
NM_024537.4(CARS2):c.656-20G>A rs578236157 0.00001
NM_024537.4(CARS2):c.656-8A>G rs1199052460 0.00001
NM_024537.4(CARS2):c.660C>T (p.Asp220=) rs762160669 0.00001
NM_024537.4(CARS2):c.662C>G (p.Ser221Cys) rs201064390 0.00001
NM_024537.4(CARS2):c.684C>T (p.Asp228=) rs537075451 0.00001
NM_024537.4(CARS2):c.687C>T (p.Phe229=) rs775389111 0.00001
NM_024537.4(CARS2):c.688G>A (p.Ala230Thr) rs772065497 0.00001
NM_024537.4(CARS2):c.702G>A (p.Ala234=) rs143818816 0.00001
NM_024537.4(CARS2):c.752C>T (p.Pro251Leu) rs557671802 0.00001
NM_024537.4(CARS2):c.766G>A (p.Glu256Lys) rs756239121 0.00001
NM_024537.4(CARS2):c.778A>G (p.Ile260Val) rs1404698696 0.00001
NM_024537.4(CARS2):c.786-4G>A rs755159239 0.00001
NM_024537.4(CARS2):c.798A>G (p.Gly266=) rs1032327144 0.00001
NM_024537.4(CARS2):c.867G>A (p.Gln289=) rs1446340847 0.00001
NM_024537.4(CARS2):c.871G>A (p.Glu291Lys) rs749694651 0.00001
NM_024537.4(CARS2):c.880C>T (p.His294Tyr) rs201349963 0.00001
NM_024537.4(CARS2):c.884A>C (p.Gln295Pro) rs781605848 0.00001
NM_024537.4(CARS2):c.888C>T (p.Cys296=) rs780225759 0.00001
NM_024537.4(CARS2):c.919+7A>G rs376314240 0.00001
NM_024537.4(CARS2):c.937G>A (p.Gly313Ser) rs760461507 0.00001
NM_024537.4(CARS2):c.954G>A (p.Met318Ile) rs767180583 0.00001
NM_024537.4(CARS2):c.961T>G (p.Ser321Ala) rs759013193 0.00001
NM_024537.4(CARS2):c.976A>G (p.Ile326Val) rs2062564847 0.00001
NM_024537.4(CARS2):c.987+5C>T rs1465957770 0.00001
NM_024537.4(CARS2):c.987+7T>C rs777142413 0.00001
NM_024537.4(CARS2):c.988-11C>T rs201251622 0.00001
NC_000013.10:g.(?_111293884)_(111319830_?)dup
NC_000013.10:g.(?_111293884)_(111358440_?)dup
NC_000013.10:g.(?_111315778)_(111315885_?)del
NC_000013.10:g.(?_111340048)_(111358440_?)dup
NC_000013.10:g.(?_111353765)_(111353922_?)del
NC_000013.11:g.(?_110641517)_(110667493_?)dup
NC_000013.11:g.(?_110641517)_(110677123_?)dup
NC_000013.11:g.(?_110667320)_(110705591_?)dup
NC_000013.11:g.110646091del rs1475142913
NM_024537.4(CARS2):c.1006T>G (p.Ser336Ala) rs1594239546
NM_024537.4(CARS2):c.1007C>T (p.Ser336Phe) rs556565233
NM_024537.4(CARS2):c.1008C>G (p.Ser336=)
NM_024537.4(CARS2):c.1025TCT[1] (p.Phe343del) rs1420184025
NM_024537.4(CARS2):c.1038del (p.Ser347fs) rs2139700269
NM_024537.4(CARS2):c.1040_1041delinsTT (p.Ser347Ile) rs2139700229
NM_024537.4(CARS2):c.1041C>T (p.Ser347=) rs763055454
NM_024537.4(CARS2):c.1048C>G (p.Arg350Gly) rs773231493
NM_024537.4(CARS2):c.1054+11C>G
NM_024537.4(CARS2):c.1054+12A>G
NM_024537.4(CARS2):c.1054+13C>T
NM_024537.4(CARS2):c.1054+15C>G
NM_024537.4(CARS2):c.1054+15C>T
NM_024537.4(CARS2):c.1054+18G>A rs932427630
NM_024537.4(CARS2):c.1055-11T>C
NM_024537.4(CARS2):c.1055-11_1055-10del rs2139684399
NM_024537.4(CARS2):c.1055-17C>G
NM_024537.4(CARS2):c.1055-18C>A
NM_024537.4(CARS2):c.1055-3C>T
NM_024537.4(CARS2):c.1059C>A (p.Ile353=)
NM_024537.4(CARS2):c.1059C>G (p.Ile353Met) rs200079151
NM_024537.4(CARS2):c.1060G>A (p.Asp354Asn)
NM_024537.4(CARS2):c.1068T>C (p.Ser356=)
NM_024537.4(CARS2):c.1068dup (p.Asp357Ter)
NM_024537.4(CARS2):c.1071C>T (p.Asp357=) rs200826696
NM_024537.4(CARS2):c.1075G>A (p.Ala359Thr) rs570568500
NM_024537.4(CARS2):c.1086A>G (p.Gln362=) rs551971117
NM_024537.4(CARS2):c.1104G>A (p.Leu368=)
NM_024537.4(CARS2):c.1109T>A (p.Leu370Gln) rs1888250085
NM_024537.4(CARS2):c.1126G>A (p.Asp376Asn) rs1270277121
NM_024537.4(CARS2):c.1138T>C (p.Tyr380His) rs1888244220
NM_024537.4(CARS2):c.1140C>T (p.Tyr380=)
NM_024537.4(CARS2):c.1157C>T (p.Ala386Val) rs1186393420
NM_024537.4(CARS2):c.1168G>A (p.Val390Ile) rs138372705
NM_024537.4(CARS2):c.1168G>C (p.Val390Leu) rs138372705
NM_024537.4(CARS2):c.1177G>A (p.Ala393Thr) rs868498923
NM_024537.4(CARS2):c.1179G>A (p.Ala393=)
NM_024537.4(CARS2):c.1192_1193del (p.Arg398fs)
NM_024537.4(CARS2):c.1193+16A>C rs2139683484
NM_024537.4(CARS2):c.1193+20C>A
NM_024537.4(CARS2):c.1193+5G>T
NM_024537.4(CARS2):c.1193G>A (p.Arg398Lys)
NM_024537.4(CARS2):c.1194-13C>T
NM_024537.4(CARS2):c.1194-16dup
NM_024537.4(CARS2):c.1194-17C>T
NM_024537.4(CARS2):c.1194-20G>A
NM_024537.4(CARS2):c.1197C>G (p.Leu399=)
NM_024537.4(CARS2):c.1206C>G (p.Thr402=)
NM_024537.4(CARS2):c.1212G>A (p.Arg404=)
NM_024537.4(CARS2):c.1215C>T (p.Ala405=)
NM_024537.4(CARS2):c.1216G>A (p.Val406Met)
NM_024537.4(CARS2):c.1227dup (p.Ala411fs) rs2139679613
NM_024537.4(CARS2):c.1230G>A (p.Leu410=)
NM_024537.4(CARS2):c.1238_1239insC (p.Phe414_Asp415insTer)
NM_024537.4(CARS2):c.1253G>A (p.Arg418Lys)
NM_024537.4(CARS2):c.1286A>G (p.His429Arg)
NM_024537.4(CARS2):c.1291A>G (p.Asn431Asp)
NM_024537.4(CARS2):c.1295G>T (p.Gly432Val)
NM_024537.4(CARS2):c.1296A>G (p.Gly432=) rs1351991696
NM_024537.4(CARS2):c.1306del (p.Ala436fs) rs1473469742
NM_024537.4(CARS2):c.1308_1317+5del rs2139679182
NM_024537.4(CARS2):c.1310C>A (p.Ser437Tyr) rs750186107
NM_024537.4(CARS2):c.1311_1312insTTC (p.Ser437_Leu438insPhe) rs1339301287
NM_024537.4(CARS2):c.1312C>T (p.Leu438=)
NM_024537.4(CARS2):c.1313T>G (p.Leu438Arg) rs2139679199
NM_024537.4(CARS2):c.1317+17G>A
NM_024537.4(CARS2):c.1318-18C>G
NM_024537.4(CARS2):c.1318-8T>A rs1044806231
NM_024537.4(CARS2):c.1356C>T (p.Ala452=) rs2139674418
NM_024537.4(CARS2):c.1358T>C (p.Ile453Thr)
NM_024537.4(CARS2):c.1360dup (p.Ile454fs) rs1555342802
NM_024537.4(CARS2):c.1368C>T (p.Tyr456=)
NM_024537.4(CARS2):c.1374A>G (p.Glu458=)
NM_024537.4(CARS2):c.1377G>A (p.Gln459=)
NM_024537.4(CARS2):c.1391T>C (p.Val464Ala)
NM_024537.4(CARS2):c.1402C>G (p.Leu468Val)
NM_024537.4(CARS2):c.1416+10A>T rs1887805574
NM_024537.4(CARS2):c.1416+5G>A
NM_024537.4(CARS2):c.1416G>A (p.Gln472=)
NM_024537.4(CARS2):c.1417-14C>A
NM_024537.4(CARS2):c.1417-18G>A
NM_024537.4(CARS2):c.1417-20C>T
NM_024537.4(CARS2):c.1417-2A>C
NM_024537.4(CARS2):c.1417-57dup rs11414164
NM_024537.4(CARS2):c.1417T>G (p.Tyr473Asp) rs1479335550
NM_024537.4(CARS2):c.1418A>G (p.Tyr473Cys) rs1232251739
NM_024537.4(CARS2):c.1419C>T (p.Tyr473=)
NM_024537.4(CARS2):c.1420G>A (p.Val474Ile) rs774709224
NM_024537.4(CARS2):c.1426G>A (p.Gly476Arg)
NM_024537.4(CARS2):c.1426G>T (p.Gly476Ter) rs1887501594
NM_024537.4(CARS2):c.1427G>T (p.Gly476Val) rs902904499
NM_024537.4(CARS2):c.1430A>G (p.Asp477Gly) rs1887500330
NM_024537.4(CARS2):c.1438G>A (p.Glu480Lys) rs192532265
NM_024537.4(CARS2):c.1438G>C (p.Glu480Gln) rs192532265
NM_024537.4(CARS2):c.1454G>A (p.Gly485Asp)
NM_024537.4(CARS2):c.1457_1473dup (p.Arg492fs) rs2139667373
NM_024537.4(CARS2):c.1459G>C (p.Val487Leu)
NM_024537.4(CARS2):c.1475G>C (p.Arg492Pro)
NM_024537.4(CARS2):c.1476G>A (p.Arg492=) rs1004975550
NM_024537.4(CARS2):c.1482G>C (p.Arg494=)
NM_024537.4(CARS2):c.1485G>A (p.Gln495=) rs781269830
NM_024537.4(CARS2):c.1486_1497del (p.Lys496_Gln499del) rs1018661935
NM_024537.4(CARS2):c.1489dup (p.Val497fs) rs1328662776
NM_024537.4(CARS2):c.1490T>C (p.Val497Ala)
NM_024537.4(CARS2):c.1492C>A (p.Arg498=) rs758217572
NM_024537.4(CARS2):c.1493G>A (p.Arg498Gln) rs778546592
NM_024537.4(CARS2):c.1493G>C (p.Arg498Pro)
NM_024537.4(CARS2):c.1499T>G (p.Phe500Cys)
NM_024537.4(CARS2):c.1502C>T (p.Ala501Val) rs756833981
NM_024537.4(CARS2):c.1503G>T (p.Ala501=)
NM_024537.4(CARS2):c.1504C>A (p.Leu502Met) rs2139667208
NM_024537.4(CARS2):c.1508C>T (p.Ala503Val)
NM_024537.4(CARS2):c.1510A>G (p.Met504Val) rs762583126
NM_024537.4(CARS2):c.1512G>A (p.Met504Ile)
NM_024537.4(CARS2):c.1523C>A (p.Thr508Lys)
NM_024537.4(CARS2):c.1524G>C (p.Thr508=)
NM_024537.4(CARS2):c.1527G>A (p.Gly509=)
NM_024537.4(CARS2):c.1528G>A (p.Asp510Asn) rs1195458572
NM_024537.4(CARS2):c.1540C>A (p.Gln514Lys) rs953211656
NM_024537.4(CARS2):c.1540C>T (p.Gln514Ter) rs953211656
NM_024537.4(CARS2):c.1568T>C (p.Leu523Pro) rs2139666898
NM_024537.4(CARS2):c.1570G>A (p.Glu524Lys) rs1214379430
NM_024537.4(CARS2):c.1570G>C (p.Glu524Gln) rs1214379430
NM_024537.4(CARS2):c.1574C>T (p.Ala525Val) rs750963303
NM_024537.4(CARS2):c.1596C>T (p.Gly532=) rs2139666777
NM_024537.4(CARS2):c.1598T>C (p.Leu533Pro) rs2139666763
NM_024537.4(CARS2):c.1599G>A (p.Leu533=)
NM_024537.4(CARS2):c.1615A>C (p.Asn539His)
NM_024537.4(CARS2):c.1623+12A>C rs2139666607
NM_024537.4(CARS2):c.1623+17G>A rs550431344
NM_024537.4(CARS2):c.1623+17G>C
NM_024537.4(CARS2):c.1623+18G>T
NM_024537.4(CARS2):c.1623+19del
NM_024537.4(CARS2):c.1623+3G>C rs554100218
NM_024537.4(CARS2):c.1623+4A>G rs1887454172
NM_024537.4(CARS2):c.1623+9C>G
NM_024537.4(CARS2):c.1624-10T>C rs1887301664
NM_024537.4(CARS2):c.1624-13TCT[4] rs763325378
NM_024537.4(CARS2):c.1624-15_1624-14del
NM_024537.4(CARS2):c.1624-1_1624inv
NM_024537.4(CARS2):c.1624-7T>C
NM_024537.4(CARS2):c.1624-9C>T rs2139663645
NM_024537.4(CARS2):c.1627A>G (p.Arg543Gly) rs1887298440
NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser) rs1594195081
NM_024537.4(CARS2):c.1630A>G (p.Ser544Gly) rs1887297938
NM_024537.4(CARS2):c.1634G>C (p.Ser545Thr) rs754579725
NM_024537.4(CARS2):c.1635T>C (p.Ser545=) rs1284618994
NM_024537.4(CARS2):c.1637C>T (p.Thr546Ile)
NM_024537.4(CARS2):c.1644C>G (p.Ser548=) rs1456791733
NM_024537.4(CARS2):c.1648T>G (p.Trp550Gly) rs2139663433
NM_024537.4(CARS2):c.1654C>A (p.Leu552Met)
NM_024537.4(CARS2):c.1662T>C (p.Asp554=)
NM_024537.4(CARS2):c.1678C>T (p.Gln560Ter)
NM_024537.4(CARS2):c.1683dup (p.Ser562fs) rs575601185
NM_024537.4(CARS2):c.1684_1685insA (p.Ser562fs) rs1887287265
NM_024537.4(CARS2):c.1692C>G (p.Gly564=) rs1415215167
NM_024537.4(CARS2):c.1692_1693insGG (p.Ter565GlyextTer?)
NM_024537.4(CARS2):c.1693T>G (p.Ter565Gly) rs1594194614
NM_024537.4(CARS2):c.1695A>C (p.Ter565Cys)
NM_024537.4(CARS2):c.179G>A (p.Gly60Glu) rs868325979
NM_024537.4(CARS2):c.193C>T (p.Leu65=)
NM_024537.4(CARS2):c.200T>C (p.Val67Ala) rs1566366122
NM_024537.4(CARS2):c.204del (p.His69fs)
NM_024537.4(CARS2):c.217G>A (p.Ala73Thr) rs761282112
NM_024537.4(CARS2):c.221C>T (p.Ser74Phe) rs2063932913
NM_024537.4(CARS2):c.223T>C (p.Trp75Arg)
NM_024537.4(CARS2):c.224+10G>A rs569593326
NM_024537.4(CARS2):c.224+10G>T rs569593326
NM_024537.4(CARS2):c.224+5G>A rs1594436730
NM_024537.4(CARS2):c.224+7C>A
NM_024537.4(CARS2):c.224+7C>T
NM_024537.4(CARS2):c.225-4C>T rs747129497
NM_024537.4(CARS2):c.225-5del
NM_024537.4(CARS2):c.232T>C (p.Cys78Arg) rs2139945104
NM_024537.4(CARS2):c.238C>A (p.Pro80Thr) rs1408025958
NM_024537.4(CARS2):c.243T>C (p.Thr81=)
NM_024537.4(CARS2):c.254_255del (p.His85fs) rs1204835445
NM_024537.4(CARS2):c.255T>C (p.His85=)
NM_024537.4(CARS2):c.258G>C (p.Ala86=)
NM_024537.4(CARS2):c.262C>T (p.Leu88Phe) rs1450978669
NM_024537.4(CARS2):c.270T>C (p.His90=) rs529804222
NM_024537.4(CARS2):c.275+12G>A
NM_024537.4(CARS2):c.275+5G>A
NM_024537.4(CARS2):c.276-12T>C
NM_024537.4(CARS2):c.276-14dup rs1305873567
NM_024537.4(CARS2):c.276-15C>T
NM_024537.4(CARS2):c.276-7C>G
NM_024537.4(CARS2):c.279A>G (p.Ser93=)
NM_024537.4(CARS2):c.281A>G (p.Tyr94Cys) rs775441980
NM_024537.4(CARS2):c.282T>A (p.Tyr94Ter) rs374089139
NM_024537.4(CARS2):c.282T>C (p.Tyr94=)
NM_024537.4(CARS2):c.301C>T (p.Arg101Ter) rs777672253
NM_024537.4(CARS2):c.302G>T (p.Arg101Leu) rs112070421
NM_024537.4(CARS2):c.308T>G (p.Ile103Ser)
NM_024537.4(CARS2):c.323T>C (p.Phe108Ser) rs201577762
NM_024537.4(CARS2):c.323T>G (p.Phe108Cys) rs201577762
NM_024537.4(CARS2):c.342G>A (p.Met114Ile) rs139689196
NM_024537.4(CARS2):c.344T>C (p.Val115Ala)
NM_024537.4(CARS2):c.354T>C (p.Ile118=)
NM_024537.4(CARS2):c.376A>G (p.Ile126Val) rs150341415
NM_024537.4(CARS2):c.383G>C (p.Arg128Thr) rs1368783369
NM_024537.4(CARS2):c.393+5G>A rs2139928226
NM_024537.4(CARS2):c.394-10C>A rs1294731262
NM_024537.4(CARS2):c.394-13A>C rs575543110
NM_024537.4(CARS2):c.394-19A>G
NM_024537.4(CARS2):c.394-20C>A
NM_024537.4(CARS2):c.394A>T (p.Met132Leu) rs2063353822
NM_024537.4(CARS2):c.408C>G (p.Pro136=) rs755243580
NM_024537.4(CARS2):c.409G>A (p.Ala137Thr)
NM_024537.4(CARS2):c.419C>T (p.Ala140Val)
NM_024537.4(CARS2):c.428A>G (p.Tyr143Cys)
NM_024537.4(CARS2):c.431A>G (p.Glu144Gly) rs150606981
NM_024537.4(CARS2):c.441C>T (p.Phe147=)
NM_024537.4(CARS2):c.444G>A (p.Lys148=) rs2139860984
NM_024537.4(CARS2):c.465+17G>A rs1460353616
NM_024537.4(CARS2):c.465+3A>G
NM_024537.4(CARS2):c.465+8G>C
NM_024537.4(CARS2):c.466-14C>G
NM_024537.4(CARS2):c.466-17T>G
NM_024537.4(CARS2):c.466-19C>T
NM_024537.4(CARS2):c.466-1G>A rs770282381
NM_024537.4(CARS2):c.466-8C>T
NM_024537.4(CARS2):c.498C>T (p.Thr166=)
NM_024537.4(CARS2):c.499G>A (p.Glu167Lys) rs753936012
NM_024537.4(CARS2):c.516A>G (p.Ile172Met) rs2063344998
NM_024537.4(CARS2):c.526A>G (p.Ile176Val)
NM_024537.4(CARS2):c.527T>G (p.Ile176Ser) rs767243208
NM_024537.4(CARS2):c.535A>C (p.Ile179Leu) rs751237567
NM_024537.4(CARS2):c.542C>T (p.Ala181Val) rs1443254892
NM_024537.4(CARS2):c.562A>G (p.Thr188Ala) rs1594372405
NM_024537.4(CARS2):c.564G>C (p.Thr188=) rs76988055
NM_024537.4(CARS2):c.566C>T (p.Ala189Val) rs1456864472
NM_024537.4(CARS2):c.571+10A>G
NM_024537.4(CARS2):c.571+12G>A
NM_024537.4(CARS2):c.571+2T>C rs749363417
NM_024537.4(CARS2):c.572-15T>A rs2139840036
NM_024537.4(CARS2):c.572-3_572-2del rs201758363
NM_024537.4(CARS2):c.575A>G (p.Asn192Ser) rs1270654557
NM_024537.4(CARS2):c.579C>T (p.Val193=) rs2139839935
NM_024537.4(CARS2):c.606C>T (p.Asp202=)
NM_024537.4(CARS2):c.625G>A (p.Gly209Ser)
NM_024537.4(CARS2):c.625G>T (p.Gly209Cys) rs760043245
NM_024537.4(CARS2):c.627C>T (p.Gly209=)
NM_024537.4(CARS2):c.641C>T (p.Pro214Leu) rs543389950
NM_024537.4(CARS2):c.642A>T (p.Pro214=) rs2139839611
NM_024537.4(CARS2):c.645C>G (p.Val215=) rs776642452
NM_024537.4(CARS2):c.655+11C>T
NM_024537.4(CARS2):c.655+12G>A rs564003779
NM_024537.4(CARS2):c.655+12G>T
NM_024537.4(CARS2):c.655+7T>G rs1594357007
NM_024537.4(CARS2):c.655+8G>A
NM_024537.4(CARS2):c.655G>C (p.Ala219Pro) rs727505361
NM_024537.4(CARS2):c.656-11G>A
NM_024537.4(CARS2):c.656-11_656-10del rs755642642
NM_024537.4(CARS2):c.656-15G>A
NM_024537.4(CARS2):c.656-16C>A rs755708345
NM_024537.4(CARS2):c.656-18A>C
NM_024537.4(CARS2):c.656-9C>T
NM_024537.4(CARS2):c.656C>T (p.Ala219Val) rs541127961
NM_024537.4(CARS2):c.666C>A (p.Asp222Glu) rs1555351973
NM_024537.4(CARS2):c.666C>G (p.Asp222Glu) rs1555351973
NM_024537.4(CARS2):c.670C>T (p.Arg224Cys) rs1323009856
NM_024537.4(CARS2):c.676G>T (p.Ala226Ser)
NM_024537.4(CARS2):c.700del (p.Ala234fs) rs2139808347
NM_024537.4(CARS2):c.717G>A (p.Glu239=)
NM_024537.4(CARS2):c.728C>T (p.Ala243Val) rs2062971648
NM_024537.4(CARS2):c.742C>G (p.Pro248Ala) rs1465849835
NM_024537.4(CARS2):c.756C>A (p.Gly252=) rs1266795670
NM_024537.4(CARS2):c.765C>T (p.Ile255=) rs764405976
NM_024537.4(CARS2):c.771C>G (p.Cys257Trp)
NM_024537.4(CARS2):c.781G>A (p.Ala261Thr) rs374751888
NM_024537.4(CARS2):c.781G>T (p.Ala261Ser) rs374751888
NM_024537.4(CARS2):c.783T>C (p.Ala261=)
NM_024537.4(CARS2):c.785+14C>T
NM_024537.4(CARS2):c.785G>C (p.Ser262Thr)
NM_024537.4(CARS2):c.786-16G>A
NM_024537.4(CARS2):c.786-16G>C
NM_024537.4(CARS2):c.786-16G>T rs548625666
NM_024537.4(CARS2):c.786-3C>T
NM_024537.4(CARS2):c.786-6T>C rs1372358723
NM_024537.4(CARS2):c.788T>C (p.Met263Thr) rs2139765950
NM_024537.4(CARS2):c.805C>T (p.Leu269=)
NM_024537.4(CARS2):c.816T>C (p.His272=) rs2062680503
NM_024537.4(CARS2):c.819A>C (p.Ser273=)
NM_024537.4(CARS2):c.819A>G (p.Ser273=) rs773063187
NM_024537.4(CARS2):c.843A>C (p.Pro281=)
NM_024537.4(CARS2):c.845A>G (p.His282Arg) rs2139765647
NM_024537.4(CARS2):c.851_852delinsGG (p.Glu284Gly) rs1594296703
NM_024537.4(CARS2):c.856G>A (p.Glu286Lys)
NM_024537.4(CARS2):c.859A>G (p.Ile287Val)
NM_024537.4(CARS2):c.868T>C (p.Cys290Arg) rs1240392926
NM_024537.4(CARS2):c.874G>A (p.Val292Ile) rs1213190525
NM_024537.4(CARS2):c.875T>C (p.Val292Ala) rs778341096
NM_024537.4(CARS2):c.878_879del (p.Phe293fs) rs1258446331
NM_024537.4(CARS2):c.881A>G (p.His294Arg) rs1209069182
NM_024537.4(CARS2):c.885G>A (p.Gln295=)
NM_024537.4(CARS2):c.886T>G (p.Cys296Gly) rs751712957
NM_024537.4(CARS2):c.888C>A (p.Cys296Ter) rs780225759
NM_024537.4(CARS2):c.889G>A (p.Glu297Lys) rs368410574
NM_024537.4(CARS2):c.894G>A (p.Gln298=)
NM_024537.4(CARS2):c.914A>G (p.His305Arg) rs761552163
NM_024537.4(CARS2):c.919+14T>C
NM_024537.4(CARS2):c.919+18A>G
NM_024537.4(CARS2):c.919+8A>C
NM_024537.4(CARS2):c.919+8A>G rs2062677132
NM_024537.4(CARS2):c.920-3C>G
NM_024537.4(CARS2):c.920-8del rs2139748776
NM_024537.4(CARS2):c.921G>T (p.Gly307=)
NM_024537.4(CARS2):c.922C>G (p.His308Asp) rs2062566720
NM_024537.4(CARS2):c.931G>A (p.Ala311Thr) rs763808514
NM_024537.4(CARS2):c.943GAA[1] (p.Glu316del) rs2062565908
NM_024537.4(CARS2):c.946G>A (p.Glu316Lys)
NM_024537.4(CARS2):c.973T>A (p.Tyr325Asn) rs1464734976
NM_024537.4(CARS2):c.977T>C (p.Ile326Thr)
NM_024537.4(CARS2):c.982A>G (p.Ile328Val) rs1448672862
NM_024537.4(CARS2):c.987+19_987+23del
NM_024537.4(CARS2):c.987+20G>T rs747353959
NM_024537.4(CARS2):c.987+6G>A rs1479157443
NM_024537.4(CARS2):c.988-13C>G rs2062199603
NM_024537.4(CARS2):c.988-17G>C rs1212397461
NM_024537.4(CARS2):c.988-1G>A
NM_024537.4(CARS2):c.988-4C>T
NM_024537.4(CARS2):c.988-5A>T
NM_024537.4(CARS2):c.988-8T>C rs2139700605
NM_024537.4(CARS2):c.991T>G (p.Phe331Val) rs2139700565
NM_024537.4(CARS2):c.997A>G (p.Lys333Glu) rs2062198993

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