ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Invitae

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2613
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HGVS dbSNP gnomAD frequency
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_006567.5(FARS2):c.1217+40158C>T rs4960122 0.40713
NM_018127.7(ELAC2):c.1305-8T>C rs3760316 0.32355
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_018127.7(ELAC2):c.297-11T>C rs58809197 0.27292
NM_018127.7(ELAC2):c.1218+15C>T rs55825263 0.26965
NM_018127.7(ELAC2):c.1304+17A>T rs55674356 0.26960
NM_024537.4(CARS2):c.417C>T (p.Leu139=) rs2304767 0.23275
NM_012123.4(MTO1):c.1180T>C (p.Leu394=) rs2036039 0.20359
NM_024537.4(CARS2):c.1664A>C (p.Gln555Pro) rs1043886 0.10889
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=) rs17552022 0.08581
NM_018127.7(ELAC2):c.491-14T>C rs74556312 0.08556
NM_024537.4(CARS2):c.538A>T (p.Ile180Phe) rs72661692 0.07201
NM_152269.5(MTRFR):c.273C>T (p.Ile91=) rs2280424 0.04534
NM_012123.4(MTO1):c.1918-7T>G rs73452515 0.04248
NM_018127.7(ELAC2):c.798-20G>T rs77528900 0.03735
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_006567.5(FARS2):c.339C>T (p.Tyr113=) rs41302853 0.02609
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=) rs7217826 0.02093
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634 0.01784
NM_024537.4(CARS2):c.647G>A (p.Gly216Glu) rs146773721 0.01595
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=) rs77972324 0.01451
NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys) rs79081036 0.01302
NM_006567.5(FARS2):c.102G>A (p.Ser34=) rs113155624 0.00836
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00823
NM_018127.7(ELAC2):c.1479G>C (p.Pro493=) rs140335642 0.00771
NM_024537.4(CARS2):c.1624-12C>G rs115116722 0.00724
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_024537.4(CARS2):c.1681A>G (p.Lys561Glu) rs188068027 0.00590
NM_024537.4(CARS2):c.1317+10C>T rs141996297 0.00555
NM_018127.7(ELAC2):c.1305-9_1305-8insCTC rs370493014 0.00515
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_012123.4(MTO1):c.1368T>C (p.Thr456=) rs115654622 0.00454
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_006567.5(FARS2):c.468G>A (p.Thr156=) rs73718083 0.00382
NM_024537.4(CARS2):c.64G>A (p.Gly22Arg) rs534818713 0.00328
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
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_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_012123.4(MTO1):c.1051A>G (p.Met351Val) rs144075994 0.00261
NM_012123.4(MTO1):c.620C>T (p.Thr207Met) rs139334277 0.00255
NM_024537.4(CARS2):c.930C>T (p.His310=) rs143532600 0.00232
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala) rs145043138 0.00200
NM_018127.7(ELAC2):c.174G>A (p.Val58=) rs2286334 0.00196
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr) rs147216443 0.00166
NM_024537.4(CARS2):c.1318-12G>A rs191969046 0.00161
NM_006567.5(FARS2):c.183C>T (p.Asp61=) rs73718082 0.00156
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val) rs119484087 0.00156
NM_012123.4(MTO1):c.1549G>A (p.Val517Met) rs139608228 0.00155
NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup) rs1555571246 0.00144
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00128
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00094
NM_152269.5(MTRFR):c.468A>G (p.Lys156=) rs147972301 0.00088
NM_024537.4(CARS2):c.586G>A (p.Asp196Asn) rs140082252 0.00087
NM_012123.4(MTO1):c.1082T>C (p.Met361Thr) rs145658455 0.00086
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala) rs201279883 0.00085
NM_024537.4(CARS2):c.574A>G (p.Asn192Asp) rs150286306 0.00081
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_024537.4(CARS2):c.122C>T (p.Ala41Val) rs371950209 0.00077
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_024537.4(CARS2):c.465+14C>T rs41315944 0.00061
NM_024537.4(CARS2):c.1538G>A (p.Arg513Gln) rs138022576 0.00060
NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln) rs144150548 0.00058
NM_006567.5(FARS2):c.1128C>T (p.Tyr376=) rs139204875 0.00057
NM_024537.4(CARS2):c.244G>A (p.Val82Ile) rs117788141 0.00055
NM_006567.5(FARS2):c.971A>G (p.Tyr324Cys) rs142073519 0.00052
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_018127.7(ELAC2):c.95C>G (p.Pro32Arg) rs544551424 0.00047
NM_018127.7(ELAC2):c.159C>T (p.Gly53=) rs200251607 0.00045
NM_018127.7(ELAC2):c.1218+16G>A rs201351764 0.00044
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=) rs117582762 0.00041
NM_024537.4(CARS2):c.1287C>T (p.His429=) rs143945861 0.00041
NM_006567.5(FARS2):c.267C>G (p.Ile89Met) rs143959504 0.00038
NM_018127.7(ELAC2):c.9G>C (p.Ala3=) rs764509473 0.00036
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330 0.00035
NM_012123.4(MTO1):c.1637+16A>G rs201990339 0.00034
NM_018127.7(ELAC2):c.2376G>A (p.Ala792=) rs180717697 0.00034
NM_024537.4(CARS2):c.1318-18C>T rs185912329 0.00034
NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu) rs151097801 0.00033
NM_018127.7(ELAC2):c.1659G>A (p.Thr553=) rs200420215 0.00032
NM_024537.4(CARS2):c.571+11T>C rs373960867 0.00031
NM_152269.5(MTRFR):c.54G>A (p.Pro18=) rs188310109 0.00031
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_006567.5(FARS2):c.101C>T (p.Ser34Leu) rs148568494 0.00029
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864 0.00028
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_018127.7(ELAC2):c.1575C>T (p.Cys525=) rs140487151 0.00028
NM_018127.7(ELAC2):c.1740C>T (p.Ala580=) rs148050183 0.00027
NM_024537.4(CARS2):c.1308G>A (p.Ala436=) rs141349632 0.00027
NM_012123.4(MTO1):c.49A>G (p.Lys17Glu) rs145625396 0.00026
NM_018127.7(ELAC2):c.1390A>T (p.Arg464Trp) rs200149324 0.00026
NM_018127.7(ELAC2):c.367+7A>G rs113628680 0.00025
NM_024537.4(CARS2):c.1074C>T (p.Ser358=) rs143638615 0.00025
NM_152269.5(MTRFR):c.336A>G (p.Leu112=) rs138538426 0.00025
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val) rs149544601 0.00024
NM_006567.5(FARS2):c.509C>G (p.Ala170Gly) rs141568455 0.00023
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 0.00022
NM_012123.4(MTO1):c.1147G>A (p.Asp383Asn) rs145163085 0.00022
NM_018127.7(ELAC2):c.2409G>A (p.Leu803=) rs201700166 0.00022
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_152269.5(MTRFR):c.283-19_283-16dup rs758700066 0.00021
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met) rs149561185 0.00020
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn) rs554931092 0.00019
NM_018127.7(ELAC2):c.195G>A (p.Ala65=) rs377291764 0.00019
NM_018127.7(ELAC2):c.739-18A>G rs376224310 0.00019
NM_006567.5(FARS2):c.323C>T (p.Pro108Leu) rs374957295 0.00017
NM_006567.5(FARS2):c.324G>A (p.Pro108=) rs139618748 0.00017
NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys) rs374954001 0.00017
NM_024537.4(CARS2):c.1475G>A (p.Arg492Gln) rs564455691 0.00017
NM_006567.5(FARS2):c.1069C>T (p.Leu357Phe) rs370983000 0.00016
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184 0.00016
NM_012123.4(MTO1):c.1137T>C (p.Gly379=) rs141477592 0.00016
NM_012123.4(MTO1):c.1940C>T (p.Pro647Leu) rs151330992 0.00016
NM_018127.7(ELAC2):c.2375C>T (p.Ala792Val) rs767378629 0.00016
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe) rs140665334 0.00016
NM_018127.7(ELAC2):c.632G>A (p.Arg211Gln) rs148419785 0.00016
NM_024537.4(CARS2):c.741A>T (p.Gly247=) rs998783511 0.00016
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_006567.5(FARS2):c.1273C>T (p.Leu425=) rs143662929 0.00015
NM_018127.7(ELAC2):c.1304+13T>C rs777881145 0.00015
NM_024537.4(CARS2):c.1141A>G (p.Met381Val) rs148857540 0.00015
NM_012123.4(MTO1):c.691G>C (p.Val231Leu) rs150037981 0.00014
NM_012123.4(MTO1):c.726A>G (p.Arg242=) rs754401804 0.00014
NM_018127.7(ELAC2):c.1080-8C>A rs201721293 0.00014
NM_018127.7(ELAC2):c.1283G>A (p.Arg428His) rs376713626 0.00014
NM_018127.7(ELAC2):c.1458T>C (p.Leu486=) rs150347734 0.00014
NM_018127.7(ELAC2):c.291G>A (p.Glu97=) rs748123262 0.00014
NM_018127.7(ELAC2):c.600A>G (p.Pro200=) rs142521572 0.00014
NM_024537.4(CARS2):c.1566G>A (p.Leu522=) rs377120724 0.00014
NM_152269.5(MTRFR):c.112G>A (p.Val38Ile) rs146534475 0.00014
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183 0.00013
NM_018127.7(ELAC2):c.1319C>T (p.Thr440Ile) rs373125478 0.00013
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_006567.5(FARS2):c.1014C>T (p.Arg338=) rs41302855 0.00012
NM_024537.4(CARS2):c.125G>C (p.Trp42Ser) rs779385700 0.00012
NM_024537.4(CARS2):c.393+15G>A rs368419708 0.00012
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_006567.5(FARS2):c.792del (p.Asp265fs) rs761097220 0.00011
NM_006567.5(FARS2):c.920G>A (p.Arg307Gln) rs771882917 0.00011
NM_012123.4(MTO1):c.1667T>C (p.Val556Ala) rs185347132 0.00011
NM_012123.4(MTO1):c.868A>G (p.Arg290Gly) rs573039001 0.00011
NM_012123.4(MTO1):c.939-13T>C rs371809371 0.00011
NM_018127.7(ELAC2):c.351T>C (p.Asn117=) rs146877290 0.00011
NM_018127.7(ELAC2):c.395G>C (p.Gly132Ala) rs377463613 0.00011
NM_152269.5(MTRFR):c.120G>A (p.Pro40=) rs377142152 0.00011
NM_152269.5(MTRFR):c.56C>T (p.Ala19Val) rs140452371 0.00011
NM_006567.5(FARS2):c.1009G>A (p.Glu337Lys) rs779793214 0.00010
NM_006567.5(FARS2):c.781A>G (p.Ile261Val) rs201927340 0.00010
NM_012123.4(MTO1):c.1480G>A (p.Gly494Ser) rs139449947 0.00010
NM_012123.4(MTO1):c.1501T>C (p.Tyr501His) rs143378575 0.00010
NM_012123.4(MTO1):c.2011A>G (p.Met671Val) rs374410917 0.00010
NM_012123.4(MTO1):c.97C>T (p.Arg33Trp) rs769059204 0.00010
NM_018127.7(ELAC2):c.1423+13C>T rs552514338 0.00010
NM_018127.7(ELAC2):c.1955C>T (p.Ala652Val) rs761881914 0.00010
NM_024537.4(CARS2):c.9G>T (p.Arg3Ser) rs766060435 0.00010
NM_152269.5(MTRFR):c.326G>A (p.Arg109Gln) rs147098739 0.00010
NM_006567.5(FARS2):c.1013G>A (p.Arg338His) rs746837108 0.00009
NM_006567.5(FARS2):c.70T>A (p.Ser24Thr) rs573996374 0.00009
NM_018127.7(ELAC2):c.156C>T (p.Ser52=) rs375941310 0.00009
NM_018127.7(ELAC2):c.1705T>G (p.Leu569Val) rs375606970 0.00009
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_152269.5(MTRFR):c.32C>T (p.Thr11Ile) rs143410718 0.00009
NM_012123.4(MTO1):c.2006C>T (p.Ser669Leu) rs377512595 0.00008
NM_012123.4(MTO1):c.2044T>C (p.Cys682Arg) rs140592470 0.00008
NM_012123.4(MTO1):c.961A>G (p.Lys321Glu) rs148667065 0.00008
NM_018127.7(ELAC2):c.1304+15G>C rs373732738 0.00008
NM_018127.7(ELAC2):c.489G>A (p.Leu163=) rs767752385 0.00008
NM_018127.7(ELAC2):c.834C>T (p.Val278=) rs138869157 0.00008
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_006567.5(FARS2):c.1209A>G (p.Val403=) rs147628137 0.00007
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn) rs764427452 0.00007
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter) rs200583827 0.00007
NM_012123.4(MTO1):c.418-6T>C rs752852300 0.00007
NM_012123.4(MTO1):c.992A>G (p.Gln331Arg) rs151280054 0.00007
NM_018127.7(ELAC2):c.1799A>G (p.His600Arg) rs764718787 0.00007
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr) rs762471494 0.00007
NM_018127.7(ELAC2):c.2404G>A (p.Gly802Ser) rs147779718 0.00007
NM_018127.7(ELAC2):c.666A>G (p.Pro222=) rs772199691 0.00007
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_006567.5(FARS2):c.1220C>T (p.Thr407Met) rs372054960 0.00006
NM_006567.5(FARS2):c.288C>T (p.His96=) rs201410497 0.00006
NM_006567.5(FARS2):c.310C>T (p.Arg104Cys) rs982485775 0.00006
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468 0.00006
NM_006567.5(FARS2):c.621T>G (p.Ala207=) rs555096870 0.00006
NM_006567.5(FARS2):c.705C>T (p.Ala235=) rs766636921 0.00006
NM_006567.5(FARS2):c.775C>T (p.Leu259=) rs746201644 0.00006
NM_006567.5(FARS2):c.819T>A (p.Pro273=) rs201042275 0.00006
NM_006567.5(FARS2):c.882G>C (p.Met294Ile) rs886256686 0.00006
NM_012123.4(MTO1):c.1281C>T (p.Asn427=) rs372077081 0.00006
NM_012123.4(MTO1):c.1918-11T>C rs760795915 0.00006
NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter) rs200217371 0.00006
NM_012123.4(MTO1):c.307A>G (p.Ile103Val) rs574980280 0.00006
NM_012123.4(MTO1):c.429G>A (p.Leu143=) rs763318672 0.00006
NM_012123.4(MTO1):c.547A>G (p.Thr183Ala) rs779108851 0.00006
NM_012123.4(MTO1):c.742A>G (p.Ile248Val) rs139801695 0.00006
NM_012123.4(MTO1):c.970C>T (p.Arg324Cys) rs759192206 0.00006
NM_012123.4(MTO1):c.983G>A (p.Arg328His) rs142148270 0.00006
NM_018127.7(ELAC2):c.1350G>A (p.Ala450=) rs375565327 0.00006
NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser) rs1217149676 0.00006
NM_018127.7(ELAC2):c.1880C>T (p.Ser627Leu) rs78105154 0.00006
NM_018127.7(ELAC2):c.1908+5G>A rs753540327 0.00006
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_018127.7(ELAC2):c.2151G>A (p.Ala717=) rs747104908 0.00006
NM_018127.7(ELAC2):c.700G>A (p.Val234Ile) rs142803912 0.00006
NM_018127.7(ELAC2):c.840C>T (p.Asp280=) rs369092504 0.00006
NM_018127.7(ELAC2):c.98G>T (p.Arg33Leu) rs771550822 0.00006
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.136A>G (p.Thr46Ala) rs771202761 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.21C>T (p.Gly7=) rs938858276 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_152269.5(MTRFR):c.325C>T (p.Arg109Trp) rs372252104 0.00006
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs) rs863223926 0.00006
NM_006567.5(FARS2):c.202C>T (p.Arg68Trp) rs374531453 0.00005
NM_006567.5(FARS2):c.672T>C (p.Ser224=) rs773811639 0.00005
NM_006567.5(FARS2):c.696C>T (p.Thr232=) rs190712413 0.00005
NM_006567.5(FARS2):c.874G>A (p.Gly292Arg) rs747278433 0.00005
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) rs148620369 0.00005
NM_006567.5(FARS2):c.954G>A (p.Arg318=) rs764877564 0.00005
NM_006567.5(FARS2):c.984T>C (p.Asp328=) rs201390927 0.00005
NM_006567.5(FARS2):c.989G>A (p.Arg330His) rs863223957 0.00005
NM_012123.4(MTO1):c.1031T>C (p.Ile344Thr) rs373659157 0.00005
NM_012123.4(MTO1):c.1306C>T (p.Pro436Ser) rs144134827 0.00005
NM_012123.4(MTO1):c.1334G>T (p.Gly445Val) rs202008685 0.00005
NM_012123.4(MTO1):c.520A>G (p.Ser174Gly) rs564804488 0.00005
NM_018127.7(ELAC2):c.1210C>T (p.Arg404Cys) rs543132773 0.00005
NM_018127.7(ELAC2):c.2221G>A (p.Glu741Lys) rs376277988 0.00005
NM_018127.7(ELAC2):c.2319C>T (p.Gly773=) rs550032568 0.00005
NM_018127.7(ELAC2):c.2403C>T (p.Gly801=) rs777147755 0.00005
NM_018127.7(ELAC2):c.560G>C (p.Ser187Thr) rs750475807 0.00005
NM_018127.7(ELAC2):c.715C>T (p.Leu239=) rs377338076 0.00005
NM_018127.7(ELAC2):c.738+17G>A rs761089421 0.00005
NM_018127.7(ELAC2):c.814G>A (p.Ala272Thr) rs765353090 0.00005
NM_018127.7(ELAC2):c.983+9G>A rs760385942 0.00005
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.37C>G (p.Pro13Ala) rs1044669719 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_006567.5(FARS2):c.1094A>G (p.Asn365Ser) rs373811519 0.00004
NM_006567.5(FARS2):c.1129G>A (p.Ala377Thr) rs145186610 0.00004
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) rs749588235 0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 0.00004
NM_006567.5(FARS2):c.545A>G (p.Gln182Arg) rs543217289 0.00004
NM_006567.5(FARS2):c.674C>T (p.Ala225Val) rs745400923 0.00004
NM_006567.5(FARS2):c.675G>A (p.Ala225=) rs370034437 0.00004
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648 0.00004
NM_006567.5(FARS2):c.768A>C (p.Gly256=) rs200003967 0.00004
NM_006567.5(FARS2):c.837C>T (p.Ile279=) rs766146229 0.00004
NM_006567.5(FARS2):c.904G>T (p.Ala302Ser) rs375858088 0.00004
NM_012123.4(MTO1):c.1058T>C (p.Leu353Pro) rs373065217 0.00004
NM_012123.4(MTO1):c.1163G>A (p.Arg388His) rs947813456 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_012123.4(MTO1):c.1222A>G (p.Ile408Val) rs149407452 0.00004
NM_012123.4(MTO1):c.1235C>T (p.Thr412Ile) rs943998709 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_012123.4(MTO1):c.1609A>G (p.Ile537Val) rs149727324 0.00004
NM_012123.4(MTO1):c.1696C>G (p.Pro566Ala) rs139647877 0.00004
NM_012123.4(MTO1):c.1846T>C (p.Tyr616His) rs751088619 0.00004
NM_012123.4(MTO1):c.1917+12G>A rs183977797 0.00004
NM_012123.4(MTO1):c.1917+17G>A rs372865741 0.00004
NM_012123.4(MTO1):c.1967A>G (p.Asn656Ser) rs759983774 0.00004
NM_012123.4(MTO1):c.253G>A (p.Gly85Arg) rs1054967842 0.00004
NM_012123.4(MTO1):c.552A>G (p.Val184=) rs746213747 0.00004
NM_012123.4(MTO1):c.593G>C (p.Arg198Thr) rs139496338 0.00004
NM_012123.4(MTO1):c.623A>G (p.His208Arg) rs560308812 0.00004
NM_012123.4(MTO1):c.78C>G (p.Ser26Arg) rs924867881 0.00004
NM_018127.7(ELAC2):c.1098G>C (p.Gln366His) rs373534638 0.00004
NM_018127.7(ELAC2):c.1142G>A (p.Arg381His) rs756803645 0.00004
NM_018127.7(ELAC2):c.1378G>A (p.Val460Met) rs775449483 0.00004
NM_018127.7(ELAC2):c.1424-16A>G rs149112672 0.00004
NM_018127.7(ELAC2):c.1424-17C>T rs755064409 0.00004
NM_018127.7(ELAC2):c.152G>T (p.Cys51Phe) rs777786097 0.00004
NM_018127.7(ELAC2):c.1554G>A (p.Glu518=) rs377407616 0.00004
NM_018127.7(ELAC2):c.1992C>T (p.Ser664=) rs746289536 0.00004
NM_018127.7(ELAC2):c.2108+14G>A rs199942266 0.00004
NM_018127.7(ELAC2):c.2109-9C>T rs770917844 0.00004
NM_018127.7(ELAC2):c.2275A>G (p.Thr759Ala) rs199998904 0.00004
NM_018127.7(ELAC2):c.240C>T (p.Phe80=) rs764484752 0.00004
NM_018127.7(ELAC2):c.2457G>A (p.Gln819=) rs773456696 0.00004
NM_018127.7(ELAC2):c.296+9G>A rs1472556568 0.00004
NM_018127.7(ELAC2):c.311G>A (p.Arg104His) rs201871417 0.00004
NM_018127.7(ELAC2):c.319A>G (p.Asn107Asp) rs781676615 0.00004
NM_018127.7(ELAC2):c.369A>G (p.Gly123=) rs143942145 0.00004
NM_018127.7(ELAC2):c.387G>A (p.Lys129=) rs367828554 0.00004
NM_018127.7(ELAC2):c.871-20G>A rs766710377 0.00004
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.170G>C (p.Ser57Thr) rs896892259 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_152269.5(MTRFR):c.181G>A (p.Glu61Lys) rs768652922 0.00004
NM_006567.5(FARS2):c.1008C>T (p.Asp336=) rs145770549 0.00003
NM_006567.5(FARS2):c.1066-9T>G rs748955008 0.00003
NM_006567.5(FARS2):c.1221G>A (p.Thr407=) rs984460938 0.00003
NM_006567.5(FARS2):c.1267C>T (p.Arg423Trp) rs145697325 0.00003
NM_006567.5(FARS2):c.128C>G (p.Thr43Ser) rs769031929 0.00003
NM_006567.5(FARS2):c.332C>T (p.Ser111Leu) rs369145259 0.00003
NM_006567.5(FARS2):c.344A>G (p.Asn115Ser) rs200731335 0.00003
NM_006567.5(FARS2):c.411C>A (p.Ser137Arg) rs761360080 0.00003
NM_006567.5(FARS2):c.443G>A (p.Arg148Gln) rs753004463 0.00003
NM_006567.5(FARS2):c.444G>T (p.Arg148=) rs548957605 0.00003
NM_006567.5(FARS2):c.706G>A (p.Val236Met) rs369015058 0.00003
NM_006567.5(FARS2):c.730A>C (p.Lys244Gln) rs767530718 0.00003
NM_006567.5(FARS2):c.754G>A (p.Ala252Thr) rs371390356 0.00003
NM_006567.5(FARS2):c.755C>G (p.Ala252Gly) rs1047260982 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012123.4(MTO1):c.1465+4A>T rs555094677 0.00003
NM_012123.4(MTO1):c.1594A>G (p.Ile532Val) rs1327925744 0.00003
NM_012123.4(MTO1):c.1633G>A (p.Val545Ile) rs764677221 0.00003
NM_012123.4(MTO1):c.1717A>T (p.Thr573Ser) rs774500449 0.00003
NM_012123.4(MTO1):c.1902T>C (p.Phe634=) rs567020916 0.00003
NM_012123.4(MTO1):c.1957G>A (p.Ala653Thr) rs749086310 0.00003
NM_012123.4(MTO1):c.24C>T (p.Gly8=) rs773306512 0.00003
NM_012123.4(MTO1):c.258G>A (p.Lys86=) rs777174074 0.00003
NM_012123.4(MTO1):c.514C>T (p.Arg172Cys) rs370046018 0.00003
NM_012123.4(MTO1):c.693G>T (p.Val231=) rs558715877 0.00003
NM_012123.4(MTO1):c.806A>G (p.Asn269Ser) rs76335462 0.00003
NM_012123.4(MTO1):c.830A>G (p.Glu277Gly) rs368675393 0.00003
NM_012123.4(MTO1):c.94C>T (p.Pro32Ser) rs372395838 0.00003
NM_012123.4(MTO1):c.976C>G (p.Pro326Ala) rs1012000476 0.00003
NM_018127.7(ELAC2):c.1042G>A (p.Val348Met) rs370476174 0.00003
NM_018127.7(ELAC2):c.1079+13G>C rs200797227 0.00003
NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr) rs1404085657 0.00003
NM_018127.7(ELAC2):c.1181C>T (p.Pro394Leu) rs1347935204 0.00003
NM_018127.7(ELAC2):c.1423+8G>A rs763673924 0.00003
NM_018127.7(ELAC2):c.1468T>G (p.Ser490Ala) rs149210630 0.00003
NM_018127.7(ELAC2):c.1521C>T (p.Ser507=) rs772549996 0.00003
NM_018127.7(ELAC2):c.1525G>A (p.Asp509Asn) rs149866327 0.00003
NM_018127.7(ELAC2):c.1576C>T (p.Arg526Cys) rs760945874 0.00003
NM_018127.7(ELAC2):c.1584C>T (p.Tyr528=) rs772070282 0.00003
NM_018127.7(ELAC2):c.1659+13del rs753964584 0.00003
NM_018127.7(ELAC2):c.1660-5G>A rs931276557 0.00003
NM_018127.7(ELAC2):c.1701A>G (p.Ala567=) rs898456068 0.00003
NM_018127.7(ELAC2):c.1858G>A (p.Ala620Thr) rs960361937 0.00003
NM_018127.7(ELAC2):c.2108+13G>A rs190562664 0.00003
NM_018127.7(ELAC2):c.2115G>A (p.Thr705=) rs755866051 0.00003
NM_018127.7(ELAC2):c.2169C>T (p.Asn723=) rs781475188 0.00003
NM_018127.7(ELAC2):c.2220C>T (p.Ser740=) rs140626107 0.00003
NM_018127.7(ELAC2):c.222C>G (p.Leu74=) rs373242425 0.00003
NM_018127.7(ELAC2):c.2372G>A (p.Arg791Gln) rs148819805 0.00003
NM_018127.7(ELAC2):c.35C>T (p.Ala12Val) rs111252262 0.00003
NM_018127.7(ELAC2):c.394G>A (p.Gly132Arg) rs374005835 0.00003
NM_018127.7(ELAC2):c.445G>A (p.Glu149Lys) rs779607134 0.00003
NM_018127.7(ELAC2):c.46A>G (p.Met16Val) rs533396669 0.00003
NM_018127.7(ELAC2):c.559+17G>C rs765765916 0.00003
NM_018127.7(ELAC2):c.659A>G (p.Asn220Ser) rs779111320 0.00003
NM_018127.7(ELAC2):c.679+9A>G rs756430924 0.00003
NM_018127.7(ELAC2):c.856C>T (p.His286Tyr) rs1184764865 0.00003
NM_018127.7(ELAC2):c.871-17C>T rs373231098 0.00003
NM_018127.7(ELAC2):c.983+10G>A rs552626383 0.00003
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.10A>T (p.Thr4Ser) rs1037184355 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.33C>A (p.Gly11=) rs907423199 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.71C>T (p.Ala24Val) rs990590876 0.00003
NM_024537.4(CARS2):c.988-10G>A rs568891064 0.00003
NM_152269.5(MTRFR):c.309G>A (p.Gln103=) rs573747271 0.00003
NM_006567.5(FARS2):c.1051A>C (p.Lys351Gln) rs748818657 0.00002
NM_006567.5(FARS2):c.1230C>T (p.Thr410=) rs142426372 0.00002
NM_006567.5(FARS2):c.1280A>G (p.Gln427Arg) rs778281728 0.00002
NM_006567.5(FARS2):c.1293G>T (p.Arg431Ser) rs749743875 0.00002
NM_006567.5(FARS2):c.213C>T (p.Leu71=) rs748813583 0.00002
NM_006567.5(FARS2):c.21G>T (p.Arg7Ser) rs764390927 0.00002
NM_006567.5(FARS2):c.259T>G (p.Trp87Gly) rs773187294 0.00002
NM_006567.5(FARS2):c.308G>T (p.Gly103Val) rs752460037 0.00002
NM_006567.5(FARS2):c.408C>T (p.Pro136=) rs917396515 0.00002
NM_006567.5(FARS2):c.409A>G (p.Ser137Gly) rs903869853 0.00002
NM_006567.5(FARS2):c.495C>T (p.His165=) rs761573935 0.00002
NM_006567.5(FARS2):c.496G>A (p.Ala166Thr) rs764932724 0.00002
NM_006567.5(FARS2):c.519G>C (p.Val173=) rs147754364 0.00002
NM_006567.5(FARS2):c.588C>T (p.Ala196=) rs138339047 0.00002
NM_006567.5(FARS2):c.589G>A (p.Val197Met) rs149605576 0.00002
NM_006567.5(FARS2):c.612+12G>A rs186634574 0.00002
NM_006567.5(FARS2):c.771T>C (p.Asp257=) rs779590953 0.00002
NM_006567.5(FARS2):c.924C>T (p.Ile308=) rs775382064 0.00002
NM_012123.4(MTO1):c.1026C>T (p.Asp342=) rs780123184 0.00002
NM_012123.4(MTO1):c.1055C>T (p.Thr352Met) rs775003861 0.00002
NM_012123.4(MTO1):c.1129+13A>G rs199879600 0.00002
NM_012123.4(MTO1):c.1172C>G (p.Thr391Ser) rs377702561 0.00002
NM_012123.4(MTO1):c.1260+17T>G rs780859448 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_012123.4(MTO1):c.1335T>C (p.Gly445=) rs539098813 0.00002
NM_012123.4(MTO1):c.1340T>C (p.Ile447Thr) rs755027057 0.00002
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys) rs1459252796 0.00002
NM_012123.4(MTO1):c.1391G>A (p.Arg464His) rs141970072 0.00002
NM_012123.4(MTO1):c.1418G>A (p.Arg473His) rs1472294844 0.00002
NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter) rs771939280 0.00002
NM_012123.4(MTO1):c.146C>T (p.Thr49Ile) rs753822562 0.00002
NM_012123.4(MTO1):c.1650T>C (p.Val550=) rs755205490 0.00002
NM_012123.4(MTO1):c.1702C>G (p.Pro568Ala) rs200759516 0.00002
NM_012123.4(MTO1):c.1917G>A (p.Thr639=) rs142253409 0.00002
NM_012123.4(MTO1):c.1956C>T (p.Ala652=) rs777048417 0.00002
NM_012123.4(MTO1):c.1995A>G (p.Gln665=) rs146878659 0.00002
NM_012123.4(MTO1):c.210C>T (p.Asp70=) rs138494495 0.00002
NM_012123.4(MTO1):c.252C>T (p.Ile84=) rs374384468 0.00002
NM_012123.4(MTO1):c.286T>A (p.Leu96Met) rs145131490 0.00002
NM_012123.4(MTO1):c.313G>A (p.Asp105Asn) rs1008930519 0.00002
NM_012123.4(MTO1):c.339A>G (p.Val113=) rs776394925 0.00002
NM_012123.4(MTO1):c.553T>C (p.Tyr185His) rs772474195 0.00002
NM_012123.4(MTO1):c.634C>T (p.Arg212Cys) rs147346536 0.00002
NM_012123.4(MTO1):c.687G>T (p.Gly229=) rs748233496 0.00002
NM_012123.4(MTO1):c.774G>A (p.Pro258=) rs748667460 0.00002
NM_012123.4(MTO1):c.951C>A (p.Ser317=) rs777680736 0.00002
NM_012123.4(MTO1):c.969G>A (p.Leu323=) rs752977187 0.00002
NM_018127.7(ELAC2):c.1008C>T (p.Pro336=) rs769647706 0.00002
NM_018127.7(ELAC2):c.1080-20C>T rs371507910 0.00002
NM_018127.7(ELAC2):c.120G>T (p.Leu40=) rs368781017 0.00002
NM_018127.7(ELAC2):c.1351C>A (p.Leu451Met) rs761514025 0.00002
NM_018127.7(ELAC2):c.144G>A (p.Pro48=) rs1231034298 0.00002
NM_018127.7(ELAC2):c.1490G>A (p.Arg497Gln) rs531523727 0.00002
NM_018127.7(ELAC2):c.1577G>A (p.Arg526His) rs775698705 0.00002
NM_018127.7(ELAC2):c.1613C>G (p.Thr538Ser) rs770299965 0.00002
NM_018127.7(ELAC2):c.1617G>C (p.Leu539=) rs539598982 0.00002
NM_018127.7(ELAC2):c.1645G>A (p.Ala549Thr) rs757284769 0.00002
NM_018127.7(ELAC2):c.1743C>T (p.Pro581=) rs1838655732 0.00002
NM_018127.7(ELAC2):c.1956G>A (p.Ala652=) rs776752737 0.00002
NM_018127.7(ELAC2):c.19C>G (p.Leu7Val) rs1003043105 0.00002
NM_018127.7(ELAC2):c.2030-2A>G rs1033730754 0.00002
NM_018127.7(ELAC2):c.2109-17C>G rs1053943347 0.00002
NM_018127.7(ELAC2):c.2226A>G (p.Lys742=) rs773995732 0.00002
NM_018127.7(ELAC2):c.2363G>A (p.Arg788Gln) rs567494102 0.00002
NM_018127.7(ELAC2):c.2418G>C (p.Gly806=) rs144228112 0.00002
NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp) rs767611235 0.00002
NM_018127.7(ELAC2):c.245+19C>A rs1037457378 0.00002
NM_018127.7(ELAC2):c.293A>G (p.His98Arg) rs1471918559 0.00002
NM_018127.7(ELAC2):c.393C>T (p.Thr131=) rs747138055 0.00002
NM_018127.7(ELAC2):c.39A>T (p.Gly13=) rs906248515 0.00002
NM_018127.7(ELAC2):c.512C>T (p.Pro171Leu) rs139453392 0.00002
NM_018127.7(ELAC2):c.550C>T (p.Pro184Ser) rs755308728 0.00002
NM_018127.7(ELAC2):c.566A>G (p.Gln189Arg) rs779337966 0.00002
NM_018127.7(ELAC2):c.65T>C (p.Ile22Thr) rs934103595 0.00002
NM_018127.7(ELAC2):c.680G>A (p.Gly227Asp) rs746132751 0.00002
NM_018127.7(ELAC2):c.721G>A (p.Val241Ile) rs766704172 0.00002
NM_018127.7(ELAC2):c.797+9G>T rs762820869 0.00002
NM_018127.7(ELAC2):c.798-13C>G rs371733501 0.00002
NM_018127.7(ELAC2):c.841G>A (p.Gly281Arg) rs147215643 0.00002
NM_018127.7(ELAC2):c.8C>T (p.Ala3Val) rs1273371887 0.00002
NM_018127.7(ELAC2):c.983+14T>A rs758970515 0.00002
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.127C>T (p.Leu43=) rs1189964054 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.94C>G (p.Arg32Gly) rs924724206 0.00002
NM_152269.5(MTRFR):c.244G>A (p.Val82Met) rs374311195 0.00002
NM_152269.5(MTRFR):c.282+17C>T rs1197939863 0.00002
NM_152269.5(MTRFR):c.34C>T (p.Pro12Ser) rs751310720 0.00002
NM_152269.5(MTRFR):c.405G>A (p.Ala135=) rs941522491 0.00002
NM_152269.5(MTRFR):c.459G>C (p.Lys153Asn) rs773644413 0.00002
NM_006567.5(FARS2):c.1001G>A (p.Cys334Tyr) rs745888157 0.00001
NM_006567.5(FARS2):c.1011G>A (p.Glu337=) rs932539318 0.00001
NM_006567.5(FARS2):c.1012C>A (p.Arg338Ser) rs1167684566 0.00001
NM_006567.5(FARS2):c.1054G>T (p.Val352Leu) rs1360751755 0.00001
NM_006567.5(FARS2):c.1064A>G (p.Gln355Arg) rs775918126 0.00001
NM_006567.5(FARS2):c.1066-12_1066-11del rs1424235482 0.00001
NM_006567.5(FARS2):c.1083G>A (p.Pro361=) rs762103254 0.00001
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter) rs770597592 0.00001
NM_006567.5(FARS2):c.1157G>A (p.Arg386Gln) rs778309551 0.00001
NM_006567.5(FARS2):c.1163T>C (p.Ile388Thr) rs1407198979 0.00001
NM_006567.5(FARS2):c.120G>A (p.Glu40=) rs761074033 0.00001
NM_006567.5(FARS2):c.1243C>T (p.Arg415Cys) rs759833179 0.00001
NM_006567.5(FARS2):c.1251G>A (p.Thr417=) rs189168256 0.00001
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041 0.00001
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) rs202183509 0.00001
NM_006567.5(FARS2):c.1282A>G (p.Arg428Gly) rs1339803692 0.00001
NM_006567.5(FARS2):c.1308C>G (p.Ala436=) rs965780712 0.00001
NM_006567.5(FARS2):c.1312C>G (p.Gln438Glu) rs1477908693 0.00001
NM_006567.5(FARS2):c.160C>T (p.Leu54=) rs1380230371 0.00001
NM_006567.5(FARS2):c.184G>A (p.Asp62Asn) rs780467389 0.00001
NM_006567.5(FARS2):c.203G>A (p.Arg68Gln) rs368352168 0.00001
NM_006567.5(FARS2):c.224G>T (p.Gly75Val) rs367691523 0.00001
NM_006567.5(FARS2):c.261G>A (p.Trp87Ter) rs1229314240 0.00001
NM_006567.5(FARS2):c.264G>A (p.Leu88=) rs377298153 0.00001
NM_006567.5(FARS2):c.312C>A (p.Arg104=) rs755776049 0.00001
NM_006567.5(FARS2):c.318G>A (p.Gly106=) rs140589763 0.00001
NM_006567.5(FARS2):c.333G>A (p.Ser111=) rs781723007 0.00001
NM_006567.5(FARS2):c.361A>G (p.Thr121Ala) rs1057519095 0.00001
NM_006567.5(FARS2):c.372G>A (p.Gln124=) rs566589950 0.00001
NM_006567.5(FARS2):c.375C>T (p.Asn125=) rs1173641601 0.00001
NM_006567.5(FARS2):c.477C>A (p.His159Gln) rs775340627 0.00001
NM_006567.5(FARS2):c.4G>T (p.Val2Leu) rs759961408 0.00001
NM_006567.5(FARS2):c.515T>C (p.Leu172Pro) rs754132045 0.00001
NM_006567.5(FARS2):c.539G>A (p.Arg180His) rs375460524 0.00001
NM_006567.5(FARS2):c.549C>T (p.Ile183=) rs776506015 0.00001
NM_006567.5(FARS2):c.562T>C (p.Tyr188His) rs1434464323 0.00001
NM_006567.5(FARS2):c.586G>T (p.Ala196Ser) rs150490093 0.00001
NM_006567.5(FARS2):c.592C>T (p.Arg198Trp) rs1232483392 0.00001
NM_006567.5(FARS2):c.625A>G (p.Ile209Val) rs764360302 0.00001
NM_006567.5(FARS2):c.638A>G (p.Glu213Gly) rs1044543244 0.00001
NM_006567.5(FARS2):c.646C>T (p.Gln216Ter) rs1057523346 0.00001
NM_006567.5(FARS2):c.649C>G (p.Leu217Val) rs756084801 0.00001
NM_006567.5(FARS2):c.668G>A (p.Arg223His) rs770650914 0.00001
NM_006567.5(FARS2):c.692A>T (p.His231Leu) rs137910005 0.00001
NM_006567.5(FARS2):c.6G>A (p.Val2=) rs772379847 0.00001
NM_006567.5(FARS2):c.704C>T (p.Ala235Val) rs763234952 0.00001
NM_006567.5(FARS2):c.72C>T (p.Ser24=) rs894420718 0.00001
NM_006567.5(FARS2):c.735A>G (p.Gln245=) rs752801499 0.00001
NM_006567.5(FARS2):c.751A>G (p.Met251Val) rs753691420 0.00001
NM_006567.5(FARS2):c.752T>C (p.Met251Thr) rs377582332 0.00001
NM_006567.5(FARS2):c.774G>A (p.Glu258=) rs1274777348 0.00001
NM_006567.5(FARS2):c.786A>G (p.Arg262=) rs1763132563 0.00001
NM_006567.5(FARS2):c.80A>G (p.His27Arg) rs537850422 0.00001
NM_006567.5(FARS2):c.812del (p.Thr271fs) rs1429774361 0.00001
NM_006567.5(FARS2):c.86A>G (p.His29Arg) rs754644366 0.00001
NM_006567.5(FARS2):c.894G>A (p.Leu298=) rs1470539531 0.00001
NM_006567.5(FARS2):c.904+9G>C rs201412926 0.00001
NM_006567.5(FARS2):c.905-5C>T rs1386174055 0.00001
NM_006567.5(FARS2):c.905C>T (p.Ala302Val) rs777903820 0.00001
NM_006567.5(FARS2):c.916G>T (p.Asp306Tyr) rs1354821900 0.00001
NM_006567.5(FARS2):c.957A>G (p.Leu319=) rs1015994762 0.00001
NM_006567.5(FARS2):c.958G>T (p.Ala320Ser) rs767870566 0.00001
NM_006567.5(FARS2):c.961A>G (p.Met321Val) rs1405389231 0.00001
NM_006567.5(FARS2):c.972C>T (p.Tyr324=) rs150789146 0.00001
NM_006567.5(FARS2):c.988C>T (p.Arg330Cys) rs757442324 0.00001
NM_006567.5(FARS2):c.993C>G (p.Leu331=) rs370814907 0.00001
NM_006567.5(FARS2):c.997T>A (p.Trp333Arg) rs1257634772 0.00001
NM_012123.4(MTO1):c.1044G>T (p.Gly348=) rs770890953 0.00001
NM_012123.4(MTO1):c.1056G>A (p.Thr352=) rs200078197 0.00001
NM_012123.4(MTO1):c.1067A>C (p.Glu356Ala) rs921979740 0.00001
NM_012123.4(MTO1):c.1123C>G (p.Gln375Glu) rs753603538 0.00001
NM_012123.4(MTO1):c.1129+14C>G rs757783161 0.00001
NM_012123.4(MTO1):c.1129+9G>T rs377448878 0.00001
NM_012123.4(MTO1):c.1134C>T (p.Tyr378=) rs779895347 0.00001
NM_012123.4(MTO1):c.1152C>T (p.Tyr384=) rs747803200 0.00001
NM_012123.4(MTO1):c.1194G>T (p.Leu398Phe) rs772209676 0.00001
NM_012123.4(MTO1):c.1226A>G (p.Asn409Ser) rs767029283 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.1261-9C>T rs1771508479 0.00001
NM_012123.4(MTO1):c.1272C>T (p.Ala424=) rs184320231 0.00001
NM_012123.4(MTO1):c.1273G>A (p.Gly425Arg) rs779264207 0.00001
NM_012123.4(MTO1):c.1284C>T (p.Ala428=) rs1771510990 0.00001
NM_012123.4(MTO1):c.1291C>T (p.Arg431Trp) rs748328322 0.00001
NM_012123.4(MTO1):c.1292G>A (p.Arg431Gln) rs367815963 0.00001
NM_012123.4(MTO1):c.1300C>T (p.Arg434Cys) rs535420006 0.00001
NM_012123.4(MTO1):c.1301G>A (p.Arg434His) rs775350046 0.00001
NM_012123.4(MTO1):c.1312T>C (p.Phe438Leu) rs753473168 0.00001
NM_012123.4(MTO1):c.1339A>G (p.Ile447Val) rs747475822 0.00001
NM_012123.4(MTO1):c.1367C>G (p.Thr456Ser) rs1771517793 0.00001
NM_012123.4(MTO1):c.1389C>T (p.Tyr463=) rs747803452 0.00001
NM_012123.4(MTO1):c.139G>A (p.Ala47Thr) rs1049905319 0.00001
NM_012123.4(MTO1):c.1401C>T (p.Thr467=) rs761354670 0.00001
NM_012123.4(MTO1):c.1405C>T (p.Arg469Ter) rs764848745 0.00001
NM_012123.4(MTO1):c.1463G>A (p.Arg488Gln) rs552919722 0.00001
NM_012123.4(MTO1):c.1466-11C>T rs1177539865 0.00001
NM_012123.4(MTO1):c.1498C>T (p.Arg500Ter) rs372842922 0.00001
NM_012123.4(MTO1):c.1510G>A (p.Ala504Thr) rs761290955 0.00001
NM_012123.4(MTO1):c.1515T>C (p.Cys505=) rs986939142 0.00001
NM_012123.4(MTO1):c.1541G>C (p.Gly514Ala) rs1392884488 0.00001
NM_012123.4(MTO1):c.1599A>G (p.Pro533=) rs1167772743 0.00001
NM_012123.4(MTO1):c.1616C>T (p.Thr539Ile) rs770538630 0.00001
NM_012123.4(MTO1):c.1626T>C (p.Ser542=) rs759376061 0.00001
NM_012123.4(MTO1):c.1638-12A>G rs762987532 0.00001
NM_012123.4(MTO1):c.1642C>G (p.Leu548Val) rs755838326 0.00001
NM_012123.4(MTO1):c.1757C>G (p.Ala586Gly) rs749806427 0.00001
NM_012123.4(MTO1):c.175G>T (p.Gly59Cys) rs376887969 0.00001
NM_012123.4(MTO1):c.187C>G (p.Leu63Val) rs371275324 0.00001
NM_012123.4(MTO1):c.1885C>T (p.Arg629Ter) rs752295415 0.00001
NM_012123.4(MTO1):c.1918-20C>T rs1227268741 0.00001
NM_012123.4(MTO1):c.1929T>A (p.Ala643=) rs779392966 0.00001
NM_012123.4(MTO1):c.192C>T (p.Leu64=) rs749354721 0.00001
NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser) rs746382157 0.00001
NM_012123.4(MTO1):c.1934G>A (p.Arg645His) rs758448974 0.00001
NM_012123.4(MTO1):c.2002C>T (p.Gln668Ter) rs1235728877 0.00001
NM_012123.4(MTO1):c.2004G>A (p.Gln668=) rs1274349883 0.00001
NM_012123.4(MTO1):c.2007G>A (p.Ser669=) rs760282169 0.00001
NM_012123.4(MTO1):c.2036A>G (p.Gln679Arg) rs1418465267 0.00001
NM_012123.4(MTO1):c.2056A>G (p.Arg686Gly) rs780656358 0.00001
NM_012123.4(MTO1):c.2064A>G (p.Gln688=) rs372208655 0.00001
NM_012123.4(MTO1):c.2071G>C (p.Glu691Gln) rs748394297 0.00001
NM_012123.4(MTO1):c.2077T>C (p.Ter693Gln) rs770798772 0.00001
NM_012123.4(MTO1):c.208G>A (p.Asp70Asn) rs1346321637 0.00001
NM_012123.4(MTO1):c.218-8_218-6del rs776822646 0.00001
NM_012123.4(MTO1):c.228A>G (p.Ser76=) rs1770981132 0.00001
NM_012123.4(MTO1):c.304C>T (p.Arg102Cys) rs201570582 0.00001
NM_012123.4(MTO1):c.346C>T (p.Arg116Trp) rs770260720 0.00001
NM_012123.4(MTO1):c.347G>A (p.Arg116Gln) rs148202739 0.00001
NM_012123.4(MTO1):c.37G>A (p.Val13Ile) rs866899975 0.00001
NM_012123.4(MTO1):c.386T>C (p.Ile129Thr) rs1201307484 0.00001
NM_012123.4(MTO1):c.405A>G (p.Lys135=) rs1170291540 0.00001
NM_012123.4(MTO1):c.417+2T>C rs1030161382 0.00001
NM_012123.4(MTO1):c.433A>G (p.Thr145Ala) rs747033959 0.00001
NM_012123.4(MTO1):c.448G>C (p.Val150Leu) rs767983065 0.00001
NM_012123.4(MTO1):c.476T>C (p.Ile159Thr) rs1184680964 0.00001
NM_012123.4(MTO1):c.521G>A (p.Ser174Asn) rs200547196 0.00001
NM_012123.4(MTO1):c.526G>A (p.Val176Ile) rs1009189949 0.00001
NM_012123.4(MTO1):c.535+5G>A rs1405997705 0.00001
NM_012123.4(MTO1):c.556G>A (p.Ala186Thr) rs780534174 0.00001
NM_012123.4(MTO1):c.561G>C (p.Glu187Asp) rs1168041486 0.00001
NM_012123.4(MTO1):c.621G>A (p.Thr207=) rs763650850 0.00001
NM_012123.4(MTO1):c.635G>A (p.Arg212His) rs750101940 0.00001
NM_012123.4(MTO1):c.656T>C (p.Ile219Thr) rs747465085 0.00001
NM_012123.4(MTO1):c.70C>T (p.Arg24Trp) rs368723563 0.00001
NM_012123.4(MTO1):c.731C>T (p.Ala244Val) rs761373532 0.00001
NM_012123.4(MTO1):c.736G>C (p.Glu246Gln) rs750020202 0.00001
NM_012123.4(MTO1):c.764A>G (p.Lys255Arg) rs1279483238 0.00001
NM_012123.4(MTO1):c.768T>C (p.His256=) rs781712108 0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_012123.4(MTO1):c.82G>A (p.Asp28Asn) rs780242649 0.00001
NM_012123.4(MTO1):c.840G>A (p.Leu280=) rs749351702 0.00001
NM_012123.4(MTO1):c.933A>G (p.Gly311=) rs1264684764 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_012123.4(MTO1):c.939-7A>T rs769685212 0.00001
NM_012123.4(MTO1):c.956A>G (p.Glu319Gly) rs376396609 0.00001
NM_012123.4(MTO1):c.96C>T (p.Pro32=) rs938648582 0.00001
NM_012123.4(MTO1):c.988C>T (p.His330Tyr) rs544282554 0.00001
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs) rs387906327 0.00001
NM_018127.7(ELAC2):c.1004C>T (p.Ala335Val) rs187079048 0.00001
NM_018127.7(ELAC2):c.1078A>T (p.Arg360Trp) rs757575765 0.00001
NM_018127.7(ELAC2):c.1080-12G>A rs1447133657 0.00001
NM_018127.7(ELAC2):c.1080-17G>C rs772301440 0.00001
NM_018127.7(ELAC2):c.1080-19C>T rs763737021 0.00001
NM_018127.7(ELAC2):c.1151A>T (p.Lys384Met) rs752533400 0.00001
NM_018127.7(ELAC2):c.1161C>T (p.Thr387=) rs1057521455 0.00001
NM_018127.7(ELAC2):c.1218+20C>T rs1367660839 0.00001
NM_018127.7(ELAC2):c.1227C>T (p.Gly409=) rs138100769 0.00001
NM_018127.7(ELAC2):c.1257T>G (p.Gly419=) rs2040855188 0.00001
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter) rs1308121771 0.00001
NM_018127.7(ELAC2):c.127C>A (p.Arg43=) rs1598280966 0.00001
NM_018127.7(ELAC2):c.1282C>T (p.Arg428Cys) rs775958815 0.00001
NM_018127.7(ELAC2):c.1286C>G (p.Pro429Arg) rs1285444804 0.00001
NM_018127.7(ELAC2):c.1305-10C>T rs771858858 0.00001
NM_018127.7(ELAC2):c.1305-2A>G rs779254943 0.00001
NM_018127.7(ELAC2):c.1323C>G (p.Cys441Trp) rs1567751438 0.00001
NM_018127.7(ELAC2):c.132G>A (p.Glu44=) rs933215096 0.00001
NM_018127.7(ELAC2):c.134A>G (p.Lys45Arg) rs745328310 0.00001
NM_018127.7(ELAC2):c.136C>T (p.Arg46Cys) rs2041835898 0.00001
NM_018127.7(ELAC2):c.1375A>G (p.Ser459Gly) rs760132087 0.00001
NM_018127.7(ELAC2):c.1400C>T (p.Ala467Val) rs749460308 0.00001
NM_018127.7(ELAC2):c.1435C>T (p.Gln479Ter) rs138114191 0.00001
NM_018127.7(ELAC2):c.1436A>G (p.Gln479Arg) rs1165336639 0.00001
NM_018127.7(ELAC2):c.1441C>G (p.Pro481Ala) rs1474253067 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_018127.7(ELAC2):c.146C>T (p.Ser49Leu) rs1235154753 0.00001
NM_018127.7(ELAC2):c.1476C>T (p.Ile492=) rs766476173 0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter) rs550032922 0.00001
NM_018127.7(ELAC2):c.1524C>T (p.Pro508=) rs746298894 0.00001
NM_018127.7(ELAC2):c.1530G>A (p.Thr510=) rs202041978 0.00001
NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr) rs1240684251 0.00001
NM_018127.7(ELAC2):c.1608G>A (p.Leu536=) rs773774169 0.00001
NM_018127.7(ELAC2):c.1646C>T (p.Ala549Val) rs753617499 0.00001
NM_018127.7(ELAC2):c.1658C>T (p.Thr553Met) rs755904309 0.00001
NM_018127.7(ELAC2):c.1669A>G (p.Ser557Gly) rs920039553 0.00001
NM_018127.7(ELAC2):c.1680G>A (p.Leu560=) rs1204658530 0.00001
NM_018127.7(ELAC2):c.1686A>G (p.Arg562=) rs376766610 0.00001
NM_018127.7(ELAC2):c.1698+18T>G rs773809126 0.00001
NM_018127.7(ELAC2):c.1699-19C>G rs371530852 0.00001
NM_018127.7(ELAC2):c.1699-20A>G rs1489448575 0.00001
NM_018127.7(ELAC2):c.1722C>T (p.His574=) rs770617287 0.00001
NM_018127.7(ELAC2):c.1728G>C (p.Leu576Phe) rs2040437747 0.00001
NM_018127.7(ELAC2):c.178C>T (p.Leu60=) rs1266677255 0.00001
NM_018127.7(ELAC2):c.1808+15C>T rs930358086 0.00001
NM_018127.7(ELAC2):c.1820C>T (p.Ala607Val) rs913207452 0.00001
NM_018127.7(ELAC2):c.1876A>G (p.Ser626Gly) rs745680653 0.00001
NM_018127.7(ELAC2):c.1888C>T (p.Arg630Ter) rs781680309 0.00001
NM_018127.7(ELAC2):c.1915A>G (p.Thr639Ala) rs758792385 0.00001
NM_018127.7(ELAC2):c.1927C>T (p.Arg643Trp) rs373464578 0.00001
NM_018127.7(ELAC2):c.1988A>G (p.Tyr663Cys) rs781379178 0.00001
NM_018127.7(ELAC2):c.1993G>A (p.Gly665Arg) rs777258865 0.00001
NM_018127.7(ELAC2):c.2007C>G (p.Pro669=) rs780790017 0.00001
NM_018127.7(ELAC2):c.2011G>A (p.Glu671Lys) rs754567726 0.00001
NM_018127.7(ELAC2):c.2017C>T (p.Leu673=) rs200759780 0.00001
NM_018127.7(ELAC2):c.2020G>A (p.Val674Ile) rs750302074 0.00001
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp) rs1157458251 0.00001
NM_018127.7(ELAC2):c.2024G>A (p.Arg675Gln) rs765368974 0.00001
NM_018127.7(ELAC2):c.2030-6C>T rs548603402 0.00001
NM_018127.7(ELAC2):c.2076T>G (p.Gly692=) rs577239094 0.00001
NM_018127.7(ELAC2):c.2108+12C>T rs757853122 0.00001
NM_018127.7(ELAC2):c.2109-19C>G rs893950337 0.00001
NM_018127.7(ELAC2):c.2112A>G (p.Thr704=) rs998359804 0.00001
NM_018127.7(ELAC2):c.2118C>G (p.Ser706=) rs752923351 0.00001
NM_018127.7(ELAC2):c.2131G>A (p.Val711Met) rs560136994 0.00001
NM_018127.7(ELAC2):c.2148C>T (p.Asn716=) rs759078534 0.00001
NM_018127.7(ELAC2):c.2149G>A (p.Ala717Thr) rs796103645 0.00001
NM_018127.7(ELAC2):c.2163G>T (p.Met721Ile) rs769609689 0.00001
NM_018127.7(ELAC2):c.2249T>G (p.Met750Arg) rs769686385 0.00001
NM_018127.7(ELAC2):c.224A>G (p.Tyr75Cys) rs137859574 0.00001
NM_018127.7(ELAC2):c.2254-11G>A rs553919919 0.00001
NM_018127.7(ELAC2):c.2254-5T>G rs922658791 0.00001
NM_018127.7(ELAC2):c.2254-8T>C rs186366777 0.00001
NM_018127.7(ELAC2):c.226G>A (p.Val76Ile) rs377073548 0.00001
NM_018127.7(ELAC2):c.2291T>G (p.Ile764Ser) rs779668862 0.00001
NM_018127.7(ELAC2):c.2295C>G (p.Pro765=) rs371543722 0.00001
NM_018127.7(ELAC2):c.22C>T (p.Leu8=) rs754652199 0.00001
NM_018127.7(ELAC2):c.2333T>C (p.Met778Thr) rs774664159 0.00001
NM_018127.7(ELAC2):c.2341C>T (p.Arg781Cys) rs770865114 0.00001
NM_018127.7(ELAC2):c.2370G>A (p.Val790=) rs143840985 0.00001
NM_018127.7(ELAC2):c.2423C>T (p.Pro808Leu) rs1187954440 0.00001
NM_018127.7(ELAC2):c.2426A>T (p.Gln809Leu) rs922510869 0.00001
NM_018127.7(ELAC2):c.2445_2447del (p.Glu817del) rs1377575423 0.00001
NM_018127.7(ELAC2):c.245+17C>A rs754772263 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.2455C>T (p.Gln819Ter) rs1439706479 0.00001
NM_018127.7(ELAC2):c.2467G>T (p.Val823Phe) rs376515152 0.00001
NM_018127.7(ELAC2):c.24G>A (p.Leu8=) rs1598281471 0.00001
NM_018127.7(ELAC2):c.259T>C (p.Cys87Arg) rs753052433 0.00001
NM_018127.7(ELAC2):c.271G>A (p.Val91Ile) rs750042259 0.00001
NM_018127.7(ELAC2):c.297-4T>C rs376806455 0.00001
NM_018127.7(ELAC2):c.303G>A (p.Lys101=) rs777807535 0.00001
NM_018127.7(ELAC2):c.310C>T (p.Arg104Cys) rs748205884 0.00001
NM_018127.7(ELAC2):c.357G>A (p.Gly119=) rs376498988 0.00001
NM_018127.7(ELAC2):c.361T>C (p.Leu121=) rs200893345 0.00001
NM_018127.7(ELAC2):c.368-11A>G rs750133002 0.00001
NM_018127.7(ELAC2):c.372G>A (p.Met124Ile) rs765484266 0.00001
NM_018127.7(ELAC2):c.432+15A>C rs754403836 0.00001
NM_018127.7(ELAC2):c.432+18C>T rs779908196 0.00001
NM_018127.7(ELAC2):c.432+1G>A rs769454280 0.00001
NM_018127.7(ELAC2):c.433-5A>G rs373498430 0.00001
NM_018127.7(ELAC2):c.45C>T (p.Thr15=) rs551832115 0.00001
NM_018127.7(ELAC2):c.491-6T>C rs755040798 0.00001
NM_018127.7(ELAC2):c.495G>A (p.Val165=) rs751671002 0.00001
NM_018127.7(ELAC2):c.50C>T (p.Ser17Leu) rs765096739 0.00001
NM_018127.7(ELAC2):c.511C>T (p.Pro171Ser) rs775086832 0.00001
NM_018127.7(ELAC2):c.537A>C (p.Thr179=) rs755930395 0.00001
NM_018127.7(ELAC2):c.546G>C (p.Gln182His) rs747959167 0.00001
NM_018127.7(ELAC2):c.559+16A>G rs1449825249 0.00001
NM_018127.7(ELAC2):c.560-10T>C rs1318229217 0.00001
NM_018127.7(ELAC2):c.582C>T (p.His194=) rs764486912 0.00001
NM_018127.7(ELAC2):c.623G>A (p.Ser208Asn) rs1392434007 0.00001
NM_018127.7(ELAC2):c.631C>T (p.Arg211Ter) rs761881815 0.00001
NM_018127.7(ELAC2):c.651G>A (p.Ser217=) rs201530031 0.00001
NM_018127.7(ELAC2):c.668A>G (p.His223Arg) rs745937151 0.00001
NM_018127.7(ELAC2):c.677A>G (p.His226Arg) rs757735135 0.00001
NM_018127.7(ELAC2):c.680-11T>G rs1367528939 0.00001
NM_018127.7(ELAC2):c.69G>T (p.Ser23=) rs1299982871 0.00001
NM_018127.7(ELAC2):c.703A>G (p.Arg235Gly) rs1567767157 0.00001
NM_018127.7(ELAC2):c.716T>C (p.Leu239Pro) rs750047784 0.00001
NM_018127.7(ELAC2):c.738+7A>C rs767269129 0.00001
NM_018127.7(ELAC2):c.738+9G>C rs188872129 0.00001
NM_018127.7(ELAC2):c.739-11C>T rs919712707 0.00001
NM_018127.7(ELAC2):c.82C>T (p.Arg28Cys) rs763864314 0.00001
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter) rs767879725 0.00001
NM_018127.7(ELAC2):c.895C>A (p.Pro299Thr) rs771897223 0.00001
NM_018127.7(ELAC2):c.908G>C (p.Gly303Ala) rs188256643 0.00001
NM_018127.7(ELAC2):c.967A>G (p.Asn323Asp) rs1305210872 0.00001
NM_018127.7(ELAC2):c.983+6G>C rs1288953158 0.00001
NM_018127.7(ELAC2):c.984-18C>A rs1382193290 0.00001
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.101C>G (p.Ala34Gly) rs567317952 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.117G>A (p.Gly39=) rs1324528918 0.00001
NM_024537.4(CARS2):c.1193+10C>T rs1888233172 0.00001
NM_024537.4(CARS2):c.119G>C (p.Arg40Pro) rs916018424 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.126G>C (p.Trp42Cys) rs1019467802 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.150G>T (p.Thr50=) rs752758322 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.2T>G (p.Met1Arg) rs774110184 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.42G>T (p.Leu14=) rs1010589821 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.73G>A (p.Gly25Arg) rs1390223276 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.84G>T (p.Trp28Cys) rs1388391654 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
NM_024537.4(CARS2):c.99G>T (p.Ala33=) rs1449541513 0.00001
NM_152269.5(MTRFR):c.276T>C (p.Val92=) rs907535491 0.00001
NM_152269.5(MTRFR):c.296G>A (p.Arg99Lys) rs367548363 0.00001
NM_152269.5(MTRFR):c.297A>T (p.Arg99Ser) rs1459276555 0.00001
NM_152269.5(MTRFR):c.333C>A (p.Ile111=) rs769551356 0.00001
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter) rs397514539 0.00001
NM_152269.5(MTRFR):c.433G>A (p.Ala145Thr) rs749208492 0.00001
NM_152269.5(MTRFR):c.475T>C (p.Trp159Arg) rs755467137 0.00001
NM_152269.5(MTRFR):c.57G>A (p.Ala19=) rs749569183 0.00001
NM_152269.5(MTRFR):c.90G>A (p.Thr30=) rs775127232 0.00001
NC_000006.11:g.(?_5109657)_(5369435_?)dup
NC_000006.11:g.(?_5109657)_(5404954_?)dup
NC_000006.11:g.(?_5109657)_(6320826_?)del
NC_000006.11:g.(?_5216831)_(5431425_?)del
NC_000006.11:g.(?_5260861)_(5369435_?)del
NC_000006.11:g.(?_5339261)_(5404834_?)del
NC_000006.11:g.(?_5368784)_(5545593_?)del
NC_000006.11:g.(?_5368804)_(5369425_?)del
NC_000006.11:g.(?_5368804)_(5369435_?)del
NC_000006.11:g.(?_5368804)_(5404954_?)del
NC_000006.11:g.(?_5368804)_(5404954_?)dup
NC_000006.11:g.(?_5368804)_(5613573_?)dup
NC_000006.11:g.(?_5404755)_(5404954_?)dup
NC_000006.11:g.(?_5404755)_(5431425_?)del
NC_000006.11:g.(?_5404755)_(5545593_?)del
NC_000006.11:g.(?_5431254)_(5431425_?)del
NC_000006.11:g.(?_5431254)_(5431425_?)dup
NC_000006.11:g.(?_5431254)_(5653711_?)del
NC_000006.11:g.(?_5545393)_(5545593_?)dup
NC_000006.11:g.(?_5545403)_(5545583_?)del
NC_000006.11:g.(?_5613382)_(5613573_?)dup
NC_000006.11:g.(?_5771504)_(5771662_?)del
NC_000006.11:g.(?_5771504)_(5771682_?)dup
NC_000006.11:g.(?_5771504)_(6182394_?)dup
NC_000006.11:g.(?_74171568)_(74202085_?)dup
NC_000006.11:g.(?_74171568)_(74210468_?)dup
NC_000006.11:g.(?_74171578)_(74171814_?)del
NC_000006.11:g.(?_74171578)_(74171814_?)dup
NC_000006.11:g.(?_74171578)_(74192363_?)del
NC_000006.11:g.(?_74171578)_(74202095_?)dup
NC_000006.11:g.(?_74175912)_(74176349_?)dup
NC_000006.11:g.(?_74175912)_(74183397_?)del
NC_000006.11:g.(?_74183068)_(74183397_?)del
NC_000006.11:g.(?_74183068)_(74183397_?)dup
NC_000006.11:g.(?_74183068)_(74210458_?)dup
NC_000006.11:g.(?_74189435)_(74192363_?)del
NC_000006.11:g.(?_74191743)_(74192363_?)dup
NC_000006.11:g.(?_74201937)_(74210458_?)del
NC_000006.11:g.(?_74207439)_(74210458_?)del
NC_000006.12:g.(?_5368551)_(5369202_?)del
NC_000006.12:g.(?_5368551)_(5431192_?)del
NC_000006.12:g.(?_5404522)_(5404721_?)del
NC_000006.12:g.(?_5545160)_(5545360_?)del
NC_000006.12:g.(?_73461845)_(73462081_?)dup
NC_000012.11:g.(?_123738222)_(123738523_?)dup
NC_000012.11:g.(?_123741340)_(123741578_?)del
NC_000012.12:g.(?_123253665)_(123257041_?)dup
NC_000013.10:g.(?_111268022)_(111329470_?)dup
NC_000013.10:g.(?_111286872)_(111319840_?)dup
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_000017.10:g.(?_12896135)_(12909316_?)dup
NC_000017.10:g.(?_12896135)_(12921264_?)del
NC_000017.10:g.(?_12896135)_(12921264_?)dup
NC_000017.10:g.(?_12896201)_(12896263_?)dup
NC_000017.10:g.(?_12920159)_(12920458_?)del
NC_000017.11:g.13016942_13016943insGAAAACATTTAAACAGGATAACATGAACAGAACAAGCAACCTTTAACCTAAGAATGA
NM_006567.5(FARS2):c.1006G>A (p.Asp336Asn) rs1770899112
NM_006567.5(FARS2):c.1012C>T (p.Arg338Cys) rs1167684566
NM_006567.5(FARS2):c.1041C>T (p.Asn347=) rs769518528
NM_006567.5(FARS2):c.1044T>C (p.Ile348=) rs2150500866
NM_006567.5(FARS2):c.1050G>C (p.Gln350His) rs2150500869
NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln) rs762302341
NM_006567.5(FARS2):c.1058A>G (p.Lys353Arg) rs2150500894
NM_006567.5(FARS2):c.1065+14C>G rs1445115531
NM_006567.5(FARS2):c.1066-10G>A rs1775278247
NM_006567.5(FARS2):c.1066-12T>A rs1479548485
NM_006567.5(FARS2):c.1066-12T>C
NM_006567.5(FARS2):c.1066-13C>T rs777232308
NM_006567.5(FARS2):c.1066-15C>T
NM_006567.5(FARS2):c.1066-17T>C
NM_006567.5(FARS2):c.1066-19T>C rs1561752216
NM_006567.5(FARS2):c.1066-5G>T
NM_006567.5(FARS2):c.1066-7_1066-3del rs1775278085
NM_006567.5(FARS2):c.1084G>A (p.Ala362Thr)
NM_006567.5(FARS2):c.1084G>T (p.Ala362Ser) rs1775281586
NM_006567.5(FARS2):c.108T>C (p.Pro36=)
NM_006567.5(FARS2):c.1092C>T (p.Ile364=)
NM_006567.5(FARS2):c.1093A>C (p.Asn365His)
NM_006567.5(FARS2):c.1109_1111delinsAACCAGAATGAA (p.Trp370_Leu371delinsTer) rs1554116357
NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter)
NM_006567.5(FARS2):c.1116C>T (p.Pro372=) rs2150673615
NM_006567.5(FARS2):c.1122G>T (p.Glu374Asp)
NM_006567.5(FARS2):c.1126T>C (p.Tyr376His)
NM_006567.5(FARS2):c.113C>A (p.Ala38Glu)
NM_006567.5(FARS2):c.1154T>C (p.Val385Ala)
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006567.5(FARS2):c.1168_1173del (p.Gly390_Asp391del)
NM_006567.5(FARS2):c.1181A>G (p.Glu394Gly) rs2150673873
NM_006567.5(FARS2):c.1186G>A (p.Val396Ile) rs1036424702
NM_006567.5(FARS2):c.1193T>A (p.Leu398His)
NM_006567.5(FARS2):c.1199A>G (p.Asp400Gly) rs1775290736
NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)
NM_006567.5(FARS2):c.1200C>T (p.Asp400=) rs2150673934
NM_006567.5(FARS2):c.1208T>C (p.Val403Ala) rs1775291062
NM_006567.5(FARS2):c.120G>T (p.Glu40Asp) rs761074033
NM_006567.5(FARS2):c.1210C>T (p.His404Tyr) rs367693160
NM_006567.5(FARS2):c.1212T>A (p.His404Gln) rs1582585768
NM_006567.5(FARS2):c.1213C>T (p.Pro405Ser) rs1775291666
NM_006567.5(FARS2):c.1217+4A>G rs2150673989
NM_006567.5(FARS2):c.1217A>G (p.Lys406Arg) rs1775291811
NM_006567.5(FARS2):c.1218-5T>C rs1014916887
NM_006567.5(FARS2):c.1218-73_1289delinsC
NM_006567.5(FARS2):c.1218-7T>C rs2150990567
NM_006567.5(FARS2):c.1218-9T>A rs748697780
NM_006567.5(FARS2):c.1218G>A (p.Lys406=)
NM_006567.5(FARS2):c.1244G>A (p.Arg415His)
NM_006567.5(FARS2):c.1250C>T (p.Thr417Met) rs1000376824
NM_006567.5(FARS2):c.1256G>T (p.Arg419Leu) rs202183509
NM_006567.5(FARS2):c.125C>T (p.Ala42Val)
NM_006567.5(FARS2):c.1261A>G (p.Met421Val) rs757022549
NM_006567.5(FARS2):c.1262T>C (p.Met421Thr)
NM_006567.5(FARS2):c.1267C>A (p.Arg423=)
NM_006567.5(FARS2):c.1269G>T (p.Arg423=) rs758019336
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter) rs1561847309
NM_006567.5(FARS2):c.126C>T (p.Ala42=)
NM_006567.5(FARS2):c.1271C>G (p.Thr424Ser)
NM_006567.5(FARS2):c.1289T>C (p.Val430Ala) rs1763040456
NM_006567.5(FARS2):c.1293G>A (p.Arg431=) rs749743875
NM_006567.5(FARS2):c.1306G>A (p.Ala436Thr) rs1195724097
NM_006567.5(FARS2):c.1312C>A (p.Gln438Lys)
NM_006567.5(FARS2):c.131A>G (p.Gln44Arg) rs1453046888
NM_006567.5(FARS2):c.1344G>A (p.Glu448=) rs945267016
NM_006567.5(FARS2):c.138T>C (p.Ala46=) rs2127643010
NM_006567.5(FARS2):c.139C>T (p.Pro47Ser) rs201710092
NM_006567.5(FARS2):c.141A>G (p.Pro47=)
NM_006567.5(FARS2):c.146G>A (p.Ser49Asn) rs1758836861
NM_006567.5(FARS2):c.150G>A (p.Val50=) rs1448847094
NM_006567.5(FARS2):c.151G>C (p.Val51Leu)
NM_006567.5(FARS2):c.172T>C (p.Tyr58His) rs2127643060
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)
NM_006567.5(FARS2):c.17T>C (p.Leu6Pro) rs1758826838
NM_006567.5(FARS2):c.183C>G (p.Asp61Glu) rs73718082
NM_006567.5(FARS2):c.184G>T (p.Asp62Tyr) rs780467389
NM_006567.5(FARS2):c.201C>G (p.Thr67=) rs1357700939
NM_006567.5(FARS2):c.204G>C (p.Arg68=)
NM_006567.5(FARS2):c.206A>G (p.Lys69Arg)
NM_006567.5(FARS2):c.207G>A (p.Lys69=)
NM_006567.5(FARS2):c.20G>A (p.Arg7Lys) rs2127642730
NM_006567.5(FARS2):c.230A>T (p.Asn77Ile) rs1758842999
NM_006567.5(FARS2):c.231C>T (p.Asn77=) rs777130213
NM_006567.5(FARS2):c.234G>T (p.Leu78=)
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.261G>C (p.Trp87Cys)
NM_006567.5(FARS2):c.262C>T (p.Leu88=)
NM_006567.5(FARS2):c.284A>G (p.Glu95Gly)
NM_006567.5(FARS2):c.28G>A (p.Ala10Thr) rs753993545
NM_006567.5(FARS2):c.294C>T (p.Tyr98=)
NM_006567.5(FARS2):c.296A>G (p.Lys99Arg)
NM_006567.5(FARS2):c.297G>T (p.Lys99Asn) rs2127643451
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter) rs1428625375
NM_006567.5(FARS2):c.300G>A (p.Gln100=)
NM_006567.5(FARS2):c.308G>C (p.Gly103Ala) rs752460037
NM_006567.5(FARS2):c.311G>A (p.Arg104His)
NM_006567.5(FARS2):c.317G>T (p.Gly106Val)
NM_006567.5(FARS2):c.327G>A (p.Leu109=)
NM_006567.5(FARS2):c.333G>C (p.Ser111=)
NM_006567.5(FARS2):c.336C>T (p.Val112=) rs2127643553
NM_006567.5(FARS2):c.342C>T (p.Asp114=) rs2127643581
NM_006567.5(FARS2):c.354A>G (p.Pro118=) rs1554169338
NM_006567.5(FARS2):c.362C>T (p.Thr121Met) rs551537911
NM_006567.5(FARS2):c.364A>G (p.Thr122Ala) rs1758855175
NM_006567.5(FARS2):c.378T>C (p.Phe126=) rs2127643700
NM_006567.5(FARS2):c.382A>G (p.Ser128Gly) rs1758856343
NM_006567.5(FARS2):c.382A>T (p.Ser128Cys) rs1758856343
NM_006567.5(FARS2):c.388C>T (p.Leu130Phe)
NM_006567.5(FARS2):c.389T>G (p.Leu130Arg)
NM_006567.5(FARS2):c.3G>T (p.Met1Ile) rs2127642660
NM_006567.5(FARS2):c.407C>T (p.Pro136Leu) rs199863563
NM_006567.5(FARS2):c.410G>C (p.Ser137Thr) rs1758859644
NM_006567.5(FARS2):c.424G>A (p.Asp142Asn) rs145555213
NM_006567.5(FARS2):c.425A>G (p.Asp142Gly) rs2127643852
NM_006567.5(FARS2):c.425del (p.Asp142fs) rs2127643855
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.441T>A (p.Asn147Lys) rs1758861816
NM_006567.5(FARS2):c.442C>T (p.Arg148Trp)
NM_006567.5(FARS2):c.445A>T (p.Thr149Ser)
NM_006567.5(FARS2):c.450C>T (p.His150=) rs2127643912
NM_006567.5(FARS2):c.453G>A (p.Met151Ile)
NM_006567.5(FARS2):c.455T>G (p.Leu152Arg) rs1758863348
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly) rs1561990337
NM_006567.5(FARS2):c.462G>A (p.Ala154=) rs150477330
NM_006567.5(FARS2):c.474A>T (p.Ala158=)
NM_006567.5(FARS2):c.475C>T (p.His159Tyr)
NM_006567.5(FARS2):c.486C>T (p.Asp162=)
NM_006567.5(FARS2):c.492G>A (p.Leu164=) rs374120685
NM_006567.5(FARS2):c.497dup (p.Leu168fs)
NM_006567.5(FARS2):c.498G>A (p.Ala166=)
NM_006567.5(FARS2):c.508G>A (p.Ala170Thr)
NM_006567.5(FARS2):c.513C>T (p.Phe171=)
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) rs1554169392
NM_006567.5(FARS2):c.528T>C (p.Asp176=)
NM_006567.5(FARS2):c.546G>A (p.Gln182=) rs1581905336
NM_006567.5(FARS2):c.555C>T (p.Ser185=)
NM_006567.5(FARS2):c.563A>G (p.Tyr188Cys) rs1554169419
NM_006567.5(FARS2):c.575A>C (p.His192Pro) rs1758876342
NM_006567.5(FARS2):c.578A>G (p.Gln193Arg) rs1561990721
NM_006567.5(FARS2):c.597C>G (p.Leu199=)
NM_006567.5(FARS2):c.600C>T (p.Phe200=) rs1758879374
NM_006567.5(FARS2):c.612+19C>A rs2127644483
NM_006567.5(FARS2):c.613-10T>G
NM_006567.5(FARS2):c.613-13T>C
NM_006567.5(FARS2):c.613-15C>A
NM_006567.5(FARS2):c.613-18T>C
NM_006567.5(FARS2):c.613-2A>G
NM_006567.5(FARS2):c.613-4A>G rs1554181180
NM_006567.5(FARS2):c.613-9G>C
NM_006567.5(FARS2):c.619G>T (p.Ala207Ser)
NM_006567.5(FARS2):c.626T>C (p.Ile209Thr) rs1270173250
NM_006567.5(FARS2):c.629A>G (p.Lys210Arg) rs751662656
NM_006567.5(FARS2):c.630G>C (p.Lys210Asn) rs1761441511
NM_006567.5(FARS2):c.631G>A (p.Asp211Asn)
NM_006567.5(FARS2):c.651C>G (p.Leu217=)
NM_006567.5(FARS2):c.655G>C (p.Glu219Gln) rs1562015386
NM_006567.5(FARS2):c.668G>C (p.Arg223Pro) rs770650914
NM_006567.5(FARS2):c.673G>A (p.Ala225Thr) rs1269010952
NM_006567.5(FARS2):c.68T>A (p.Ile23Asn) rs1348616908
NM_006567.5(FARS2):c.694A>G (p.Thr232Ala) rs201092264
NM_006567.5(FARS2):c.694del (p.Thr232fs) rs2127718679
NM_006567.5(FARS2):c.698T>C (p.Met233Thr) rs2127718699
NM_006567.5(FARS2):c.700G>A (p.Glu234Lys) rs1562015500
NM_006567.5(FARS2):c.726T>C (p.Asp242=)
NM_006567.5(FARS2):c.738G>A (p.Thr246=)
NM_006567.5(FARS2):c.750C>A (p.Leu250=) rs951916099
NM_006567.5(FARS2):c.750C>T (p.Leu250=)
NM_006567.5(FARS2):c.768A>G (p.Gly256=)
NM_006567.5(FARS2):c.772+11A>T
NM_006567.5(FARS2):c.772+20T>C
NM_006567.5(FARS2):c.772+4A>C rs1368789274
NM_006567.5(FARS2):c.772+4A>G
NM_006567.5(FARS2):c.772+7G>A
NM_006567.5(FARS2):c.773-17C>T
NM_006567.5(FARS2):c.773-7T>C
NM_006567.5(FARS2):c.773-9A>C
NM_006567.5(FARS2):c.781A>T (p.Ile261Leu) rs201927340
NM_006567.5(FARS2):c.7G>A (p.Gly3Ser)
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) rs761709212
NM_006567.5(FARS2):c.804C>T (p.Phe268=)
NM_006567.5(FARS2):c.815A>C (p.His272Pro) rs2127767829
NM_006567.5(FARS2):c.829A>G (p.Met277Val)
NM_006567.5(FARS2):c.835A>G (p.Ile279Val)
NM_006567.5(FARS2):c.839A>C (p.Asn280Thr) rs11243011
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser) rs11243011
NM_006567.5(FARS2):c.846T>A (p.His282Gln) rs764139130
NM_006567.5(FARS2):c.846T>C (p.His282=)
NM_006567.5(FARS2):c.84G>A (p.Gln28=) rs2127642856
NM_006567.5(FARS2):c.852A>C (p.Glu284Asp) rs772624228
NM_006567.5(FARS2):c.852A>G (p.Glu284=) rs772624228
NM_006567.5(FARS2):c.858G>A (p.Leu286=) rs1763139178
NM_006567.5(FARS2):c.876G>A (p.Gly292=)
NM_006567.5(FARS2):c.877del (p.Gly292_Val293insTer) rs2127767975
NM_006567.5(FARS2):c.886C>T (p.Gln296Ter) rs1414534588
NM_006567.5(FARS2):c.899A>G (p.Asn300Ser) rs863223959
NM_006567.5(FARS2):c.902C>T (p.Ser301Leu)
NM_006567.5(FARS2):c.904+11A>T
NM_006567.5(FARS2):c.904+16A>G
NM_006567.5(FARS2):c.904+16del rs773225879
NM_006567.5(FARS2):c.904+3A>G rs1034582028
NM_006567.5(FARS2):c.904+9G>T rs201412926
NM_006567.5(FARS2):c.905-20A>C
NM_006567.5(FARS2):c.906T>G (p.Ala302=) rs1770885830
NM_006567.5(FARS2):c.907G>A (p.Gly303Ser) rs1770886046
NM_006567.5(FARS2):c.914A>G (p.Gln305Arg) rs543297094
NM_006567.5(FARS2):c.91G>A (p.Ala31Thr) rs556195502
NM_006567.5(FARS2):c.922A>G (p.Ile308Val)
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.925G>C (p.Gly309Arg)
NM_006567.5(FARS2):c.929G>A (p.Trp310Ter)
NM_006567.5(FARS2):c.933T>C (p.Ala311=) rs1770889954
NM_006567.5(FARS2):c.936T>C (p.Phe312=)
NM_006567.5(FARS2):c.945A>G (p.Gly315=) rs1057522221
NM_006567.5(FARS2):c.946_950del (p.Leu316fs) rs1322974029
NM_006567.5(FARS2):c.94T>A (p.Trp32Arg) rs1259085373
NM_006567.5(FARS2):c.955C>A (p.Leu319Ile) rs772822506
NM_006567.5(FARS2):c.955C>T (p.Leu319=) rs772822506
NM_006567.5(FARS2):c.958G>A (p.Ala320Thr) rs767870566
NM_006567.5(FARS2):c.985A>G (p.Ile329Val) rs1770896163
NM_006567.5(FARS2):c.988C>A (p.Arg330Ser) rs757442324
NM_006567.5(FARS2):c.999G>A (p.Trp333Ter) rs753467517
NM_006567.5(FARS2):c.999G>T (p.Trp333Cys)
NM_012123.4(MTO1):c.1000T>A (p.Leu334Met)
NM_012123.4(MTO1):c.1002G>A (p.Leu334=) rs2150035828
NM_012123.4(MTO1):c.1013G>A (p.Gly338Glu) rs1771440211
NM_012123.4(MTO1):c.103C>G (p.Pro35Ala)
NM_012123.4(MTO1):c.1044G>A (p.Gly348=)
NM_012123.4(MTO1):c.1046T>C (p.Leu349Ser)
NM_012123.4(MTO1):c.1047A>G (p.Leu349=)
NM_012123.4(MTO1):c.104C>T (p.Pro35Leu) rs777113004
NM_012123.4(MTO1):c.1059A>G (p.Leu353=) rs201656868
NM_012123.4(MTO1):c.105G>A (p.Pro35=)
NM_012123.4(MTO1):c.1062A>C (p.Pro354=) rs1060504378
NM_012123.4(MTO1):c.1066G>A (p.Glu356Lys) rs1012440521
NM_012123.4(MTO1):c.1089A>C (p.Thr363=)
NM_012123.4(MTO1):c.108C>G (p.His36Gln) rs1454178328
NM_012123.4(MTO1):c.1090T>A (p.Cys364Ser) rs755211627
NM_012123.4(MTO1):c.1091G>A (p.Cys364Tyr) rs2150035920
NM_012123.4(MTO1):c.10T>C (p.Phe4Leu)
NM_012123.4(MTO1):c.1100G>T (p.Gly367Val) rs1771444030
NM_012123.4(MTO1):c.1104G>A (p.Leu368=)
NM_012123.4(MTO1):c.1107G>A (p.Glu369=)
NM_012123.4(MTO1):c.1117G>A (p.Val373Met)
NM_012123.4(MTO1):c.111C>T (p.Phe37=)
NM_012123.4(MTO1):c.1126C>A (p.Pro376Thr)
NM_012123.4(MTO1):c.1129+12C>T rs778706192
NM_012123.4(MTO1):c.1129+13A>C
NM_012123.4(MTO1):c.1129+15A>G
NM_012123.4(MTO1):c.1129+17G>A
NM_012123.4(MTO1):c.1129+8_1129+10del rs758510777
NM_012123.4(MTO1):c.1130-20T>C
NM_012123.4(MTO1):c.1135G>A (p.Gly379Ser) rs746493463
NM_012123.4(MTO1):c.1136del (p.Gly379fs)
NM_012123.4(MTO1):c.1141C>G (p.Gln381Glu) rs1771463297
NM_012123.4(MTO1):c.114C>T (p.Asp38=)
NM_012123.4(MTO1):c.115G>A (p.Val39Met) rs766653154
NM_012123.4(MTO1):c.1160C>T (p.Pro387Leu)
NM_012123.4(MTO1):c.1170C>T (p.Ile390=)
NM_012123.4(MTO1):c.1177T>C (p.Ser393Pro) rs1172201357
NM_012123.4(MTO1):c.1178C>T (p.Ser393Phe)
NM_012123.4(MTO1):c.1189C>A (p.His397Asn) rs1771465246
NM_012123.4(MTO1):c.1198C>G (p.Gln400Glu)
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012123.4(MTO1):c.1225A>G (p.Asn409Asp)
NM_012123.4(MTO1):c.122T>G (p.Val41Gly) rs1770831602
NM_012123.4(MTO1):c.1230C>T (p.Gly410=) rs2150036324
NM_012123.4(MTO1):c.123C>G (p.Val41=)
NM_012123.4(MTO1):c.1246del (p.Glu416fs) rs1250411982
NM_012123.4(MTO1):c.1257T>C (p.Ala419=)
NM_012123.4(MTO1):c.1260+9_1260+13del rs935181583
NM_012123.4(MTO1):c.1261-12G>A
NM_012123.4(MTO1):c.1261-12G>T
NM_012123.4(MTO1):c.1261-18A>G
NM_012123.4(MTO1):c.1261-4G>C
NM_012123.4(MTO1):c.1268T>C (p.Ile423Thr)
NM_012123.4(MTO1):c.1287T>C (p.Ser429=)
NM_012123.4(MTO1):c.1288C>G (p.Leu430Val) rs2150037092
NM_012123.4(MTO1):c.128G>T (p.Gly43Val) rs2150024439
NM_012123.4(MTO1):c.1290T>C (p.Leu430=) rs148227552
NM_012123.4(MTO1):c.1293G>A (p.Arg431=)
NM_012123.4(MTO1):c.1294G>A (p.Val432Ile) rs774315947
NM_012123.4(MTO1):c.1298G>A (p.Ser433Asn)
NM_012123.4(MTO1):c.1299T>C (p.Ser433=)
NM_012123.4(MTO1):c.129T>C (p.Gly43=)
NM_012123.4(MTO1):c.12C>T (p.Phe4=)
NM_012123.4(MTO1):c.1311C>G (p.Pro437=) rs763521200
NM_012123.4(MTO1):c.1314T>C (p.Phe438=) rs2150037121
NM_012123.4(MTO1):c.1317G>C (p.Val439=)
NM_012123.4(MTO1):c.1323C>T (p.Ser441=)
NM_012123.4(MTO1):c.1327A>T (p.Thr443Ser)
NM_012123.4(MTO1):c.1347C>G (p.Val449=)
NM_012123.4(MTO1):c.1353T>C (p.Ile451=) rs557440944
NM_012123.4(MTO1):c.1353T>G (p.Ile451Met)
NM_012123.4(MTO1):c.135A>G (p.Gly45=)
NM_012123.4(MTO1):c.1362C>T (p.Leu454=)
NM_012123.4(MTO1):c.1372G>A (p.Gly458Ser)
NM_012123.4(MTO1):c.137dup (p.His46fs)
NM_012123.4(MTO1):c.1406G>A (p.Arg469Gln) rs750141214
NM_012123.4(MTO1):c.1413G>T (p.Glu471Asp)
NM_012123.4(MTO1):c.1417C>T (p.Arg473Cys)
NM_012123.4(MTO1):c.1421dup (p.Leu474fs)
NM_012123.4(MTO1):c.142G>A (p.Gly48Arg)
NM_012123.4(MTO1):c.1431C>T (p.Arg477=)
NM_012123.4(MTO1):c.1434T>C (p.Pro478=)
NM_012123.4(MTO1):c.1440T>C (p.Asn480=)
NM_012123.4(MTO1):c.1443T>C (p.Ala481=) rs2150037243
NM_012123.4(MTO1):c.1446C>G (p.Asp482Glu) rs2150037248
NM_012123.4(MTO1):c.1451G>A (p.Arg484Gln)
NM_012123.4(MTO1):c.1455C>T (p.Leu485=)
NM_012123.4(MTO1):c.1458A>G (p.Thr486=) rs1771522951
NM_012123.4(MTO1):c.1459C>T (p.Leu487=)
NM_012123.4(MTO1):c.1465+15A>T
NM_012123.4(MTO1):c.1465+18C>T
NM_012123.4(MTO1):c.1465+19C>T
NM_012123.4(MTO1):c.1466-10C>G
NM_012123.4(MTO1):c.1466-12T>G
NM_012123.4(MTO1):c.1466-17C>T
NM_012123.4(MTO1):c.1466-17_1466-16del rs751535994
NM_012123.4(MTO1):c.1466-4C>G
NM_012123.4(MTO1):c.1466-6C>G
NM_012123.4(MTO1):c.146C>G (p.Thr49Ser) rs753822562
NM_012123.4(MTO1):c.1477G>A (p.Ala493Thr)
NM_012123.4(MTO1):c.147T>C (p.Thr49=)
NM_012123.4(MTO1):c.1483T>C (p.Cys495Arg)
NM_012123.4(MTO1):c.1485T>C (p.Cys495=)
NM_012123.4(MTO1):c.1491C>T (p.Ser497=)
NM_012123.4(MTO1):c.1493A>G (p.Gln498Arg)
NM_012123.4(MTO1):c.1495C>T (p.Gln499Ter)
NM_012123.4(MTO1):c.1497A>G (p.Gln499=)
NM_012123.4(MTO1):c.1499G>A (p.Arg500Gln) rs770464521
NM_012123.4(MTO1):c.1499G>C (p.Arg500Pro)
NM_012123.4(MTO1):c.1503T>C (p.Tyr501=)
NM_012123.4(MTO1):c.1504G>A (p.Glu502Lys)
NM_012123.4(MTO1):c.1512T>A (p.Ala504=)
NM_012123.4(MTO1):c.152C>T (p.Ala51Val)
NM_012123.4(MTO1):c.1533_1536del (p.Glu512fs)
NM_012123.4(MTO1):c.1548T>C (p.Ser516=)
NM_012123.4(MTO1):c.1561A>G (p.Ile521Val)
NM_012123.4(MTO1):c.1563T>G (p.Ile521Met) rs2150037480
NM_012123.4(MTO1):c.1566G>A (p.Glu522=)
NM_012123.4(MTO1):c.1570T>C (p.Leu524=)
NM_012123.4(MTO1):c.1574G>C (p.Ser525Thr)
NM_012123.4(MTO1):c.1585A>C (p.Lys529Gln)
NM_012123.4(MTO1):c.1591T>A (p.Leu531Ile)
NM_012123.4(MTO1):c.159C>G (p.Thr53=) rs761813265
NM_012123.4(MTO1):c.159C>T (p.Thr53=)
NM_012123.4(MTO1):c.1616C>A (p.Thr539Asn)
NM_012123.4(MTO1):c.1619G>A (p.Ser540Asn) rs773811434
NM_012123.4(MTO1):c.1619G>T (p.Ser540Ile) rs773811434
NM_012123.4(MTO1):c.1621A>G (p.Arg541Gly)
NM_012123.4(MTO1):c.1629G>T (p.Leu543=)
NM_012123.4(MTO1):c.1637+14A>G
NM_012123.4(MTO1):c.1637+3A>G
NM_012123.4(MTO1):c.1638-10A>G
NM_012123.4(MTO1):c.1638-14T>C
NM_012123.4(MTO1):c.1638-15_1638-14del
NM_012123.4(MTO1):c.1638-16T>G
NM_012123.4(MTO1):c.1638-20A>C
NM_012123.4(MTO1):c.1639G>A (p.Ala547Thr) rs1771829402
NM_012123.4(MTO1):c.1640C>T (p.Ala547Val) rs751843868
NM_012123.4(MTO1):c.1643dup (p.Asp549fs)
NM_012123.4(MTO1):c.1644C>G (p.Leu548=)
NM_012123.4(MTO1):c.1644C>T (p.Leu548=)
NM_012123.4(MTO1):c.1645G>A (p.Asp549Asn)
NM_012123.4(MTO1):c.1648_1650dup (p.Val550dup) rs2150042260
NM_012123.4(MTO1):c.1658A>G (p.Tyr553Cys)
NM_012123.4(MTO1):c.165C>G (p.Ala55=)
NM_012123.4(MTO1):c.166G>A (p.Ala56Thr) rs1770833571
NM_012123.4(MTO1):c.1672A>G (p.Met558Val)
NM_012123.4(MTO1):c.1676A>G (p.Asp559Gly)
NM_012123.4(MTO1):c.1680A>C (p.Ser560=) rs1215865193
NM_012123.4(MTO1):c.1680A>G (p.Ser560=)
NM_012123.4(MTO1):c.1687A>G (p.Lys563Glu) rs577810557
NM_012123.4(MTO1):c.1692del (p.Val565fs) rs2150042284
NM_012123.4(MTO1):c.1720A>G (p.Lys574Glu) rs2150042299
NM_012123.4(MTO1):c.1725T>G (p.Cys575Trp) rs1771835062
NM_012123.4(MTO1):c.1750dup (p.Ile584fs) rs2150042308
NM_012123.4(MTO1):c.1756+16del rs1305339840
NM_012123.4(MTO1):c.1756+17G>A rs1393237455
NM_012123.4(MTO1):c.1756+19C>T
NM_012123.4(MTO1):c.1756+2T>C
NM_012123.4(MTO1):c.1756+5A>T
NM_012123.4(MTO1):c.1757-11T>C
NM_012123.4(MTO1):c.1757-14A>T
NM_012123.4(MTO1):c.1757-20A>T
NM_012123.4(MTO1):c.1759A>G (p.Thr587Ala)
NM_012123.4(MTO1):c.1777T>C (p.Phe593Leu) rs2150044944
NM_012123.4(MTO1):c.1780C>T (p.His594Tyr) rs2150044948
NM_012123.4(MTO1):c.1785A>G (p.Gln595=) rs147990749
NM_012123.4(MTO1):c.1789C>T (p.Gln597Ter) rs2150044955
NM_012123.4(MTO1):c.1790A>C (p.Gln597Pro) rs2150044958
NM_012123.4(MTO1):c.1791A>G (p.Gln597=)
NM_012123.4(MTO1):c.1799A>G (p.Lys600Arg)
NM_012123.4(MTO1):c.1814A>G (p.Asp605Gly)
NM_012123.4(MTO1):c.1815T>C (p.Asp605=)
NM_012123.4(MTO1):c.1822del (p.Leu608fs) rs1561954433
NM_012123.4(MTO1):c.1827A>G (p.Gln609=) rs1554150837
NM_012123.4(MTO1):c.1833A>C (p.Pro611=)
NM_012123.4(MTO1):c.183G>T (p.Arg61=) rs1582666277
NM_012123.4(MTO1):c.1840C>G (p.Leu614Val)
NM_012123.4(MTO1):c.1840C>T (p.Leu614=) rs2150044988
NM_012123.4(MTO1):c.1848T>G (p.Tyr616Ter) rs2150044996
NM_012123.4(MTO1):c.1849T>A (p.Leu617Met)
NM_012123.4(MTO1):c.1849T>G (p.Leu617Val)
NM_012123.4(MTO1):c.1860G>A (p.Arg620=)
NM_012123.4(MTO1):c.1866G>C (p.Val622=)
NM_012123.4(MTO1):c.1868C>T (p.Ser623Phe) rs1772032922
NM_012123.4(MTO1):c.187C>T (p.Leu63=)
NM_012123.4(MTO1):c.1882G>A (p.Val628Ile) rs1772033614
NM_012123.4(MTO1):c.1886G>T (p.Arg629Leu) rs894440027
NM_012123.4(MTO1):c.1896del (p.His633fs) rs2150045040
NM_012123.4(MTO1):c.1906C>T (p.Arg636Cys) rs1582701948
NM_012123.4(MTO1):c.1907G>A (p.Arg636His) rs751695333
NM_012123.4(MTO1):c.1910C>T (p.Pro637Leu)
NM_012123.4(MTO1):c.1911A>C (p.Pro637=)
NM_012123.4(MTO1):c.1911A>G (p.Pro637=)
NM_012123.4(MTO1):c.1916C>T (p.Thr639Met)
NM_012123.4(MTO1):c.1917+10T>C
NM_012123.4(MTO1):c.1917+11A>G rs2150045068
NM_012123.4(MTO1):c.1917+17_1917+19del rs760158320
NM_012123.4(MTO1):c.1917+2_1917+3insGAGAAAGTACATTTTAGTCGTCCACAGACGGT rs1207289132
NM_012123.4(MTO1):c.1918-14G>T rs2150046222
NM_012123.4(MTO1):c.1918-15_1918-13del rs2150046218
NM_012123.4(MTO1):c.1918-19T>C rs1554151114
NM_012123.4(MTO1):c.1918-20del
NM_012123.4(MTO1):c.1918-6_1918-5insCTAAAT
NM_012123.4(MTO1):c.1920C>G (p.Ile640Met) rs201198672
NM_012123.4(MTO1):c.1920C>T (p.Ile640=)
NM_012123.4(MTO1):c.1926T>A (p.Ala642=)
NM_012123.4(MTO1):c.1941C>T (p.Pro647=)
NM_012123.4(MTO1):c.1942G>A (p.Gly648Arg)
NM_012123.4(MTO1):c.1943G>A (p.Gly648Glu)
NM_012123.4(MTO1):c.1949C>T (p.Thr650Ile)
NM_012123.4(MTO1):c.1963A>G (p.Ile655Val)
NM_012123.4(MTO1):c.1966A>C (p.Asn656His)
NM_012123.4(MTO1):c.1986G>A (p.Lys662=)
NM_012123.4(MTO1):c.1989C>T (p.Thr663=)
NM_012123.4(MTO1):c.1994A>G (p.Gln665Arg)
NM_012123.4(MTO1):c.1997G>A (p.Arg666Gln)
NM_012123.4(MTO1):c.1997G>C (p.Arg666Pro) rs1772134598
NM_012123.4(MTO1):c.1999A>C (p.Arg667=)
NM_012123.4(MTO1):c.2026A>G (p.Lys676Glu)
NM_012123.4(MTO1):c.202C>T (p.Arg68Cys)
NM_012123.4(MTO1):c.2035C>G (p.Gln679Glu) rs927196297
NM_012123.4(MTO1):c.2038T>C (p.Tyr680His)
NM_012123.4(MTO1):c.203G>A (p.Arg68His) rs1251952926
NM_012123.4(MTO1):c.2062_2067del (p.Gln688_Glu689del)
NM_012123.4(MTO1):c.2064dup (p.Glu689fs)
NM_012123.4(MTO1):c.2065G>A (p.Glu689Lys)
NM_012123.4(MTO1):c.2070_2073del (p.Arg690fs)
NM_012123.4(MTO1):c.216C>G (p.Ile72Met)
NM_012123.4(MTO1):c.216C>T (p.Ile72=)
NM_012123.4(MTO1):c.217+19G>A
NM_012123.4(MTO1):c.217+20T>G
NM_012123.4(MTO1):c.218-11A>G rs1403769450
NM_012123.4(MTO1):c.218-13C>A
NM_012123.4(MTO1):c.218-14T>G
NM_012123.4(MTO1):c.218-15G>T
NM_012123.4(MTO1):c.218-16_218-15insA
NM_012123.4(MTO1):c.223A>G (p.Met75Val)
NM_012123.4(MTO1):c.22G>T (p.Gly8Cys) rs2150024316
NM_012123.4(MTO1):c.235C>A (p.Pro79Thr) rs2150027197
NM_012123.4(MTO1):c.238T>C (p.Ser80Pro) rs1408974756
NM_012123.4(MTO1):c.239_242del (p.Ser80fs)
NM_012123.4(MTO1):c.240C>T (p.Ser80=)
NM_012123.4(MTO1):c.242T>G (p.Phe81Cys)
NM_012123.4(MTO1):c.25C>G (p.Arg9Gly) rs763245762
NM_012123.4(MTO1):c.260G>A (p.Gly87Glu) rs751029705
NM_012123.4(MTO1):c.270G>A (p.Met90Ile)
NM_012123.4(MTO1):c.273G>A (p.Arg91=)
NM_012123.4(MTO1):c.276A>G (p.Glu92=) rs755181300
NM_012123.4(MTO1):c.277del (p.Glu92_Val93insTer)
NM_012123.4(MTO1):c.27T>C (p.Arg9=) rs1327873376
NM_012123.4(MTO1):c.282T>C (p.Asp94=)
NM_012123.4(MTO1):c.285C>T (p.Ala95=)
NM_012123.4(MTO1):c.300T>C (p.Cys100=)
NM_012123.4(MTO1):c.301T>C (p.Ser101Pro) rs1235731820
NM_012123.4(MTO1):c.305G>A (p.Arg102His)
NM_012123.4(MTO1):c.312T>C (p.Cys104=)
NM_012123.4(MTO1):c.332A>G (p.Tyr111Cys)
NM_012123.4(MTO1):c.33C>T (p.Val11=) rs1430945976
NM_012123.4(MTO1):c.345C>G (p.Asn115Lys)
NM_012123.4(MTO1):c.366G>A (p.Val122=)
NM_012123.4(MTO1):c.36G>T (p.Ala12=)
NM_012123.4(MTO1):c.375G>A (p.Leu125=)
NM_012123.4(MTO1):c.377G>C (p.Arg126Thr)
NM_012123.4(MTO1):c.384G>A (p.Gln128=)
NM_012123.4(MTO1):c.38T>C (p.Val13Ala)
NM_012123.4(MTO1):c.390T>C (p.Asp130=)
NM_012123.4(MTO1):c.399C>G (p.Leu133=) rs994257546
NM_012123.4(MTO1):c.402_403del (p.Tyr134_Lys135delinsTer) rs769532203
NM_012123.4(MTO1):c.408G>A (p.Gln136=)
NM_012123.4(MTO1):c.413T>C (p.Met138Thr)
NM_012123.4(MTO1):c.413del (p.Met138fs)
NM_012123.4(MTO1):c.416A>C (p.Gln139Pro)
NM_012123.4(MTO1):c.417+12G>C
NM_012123.4(MTO1):c.417+14A>G
NM_012123.4(MTO1):c.417+17A>G
NM_012123.4(MTO1):c.417+7A>C
NM_012123.4(MTO1):c.417+7A>G rs199515593
NM_012123.4(MTO1):c.417+8T>C rs1367881712
NM_012123.4(MTO1):c.417+8T>G rs1367881712
NM_012123.4(MTO1):c.418-13T>A
NM_012123.4(MTO1):c.418-15A>G rs2150027379
NM_012123.4(MTO1):c.429_444del (p.Asn144fs) rs2150027394
NM_012123.4(MTO1):c.447T>G (p.Thr149=)
NM_012123.4(MTO1):c.451C>G (p.Gln151Glu)
NM_012123.4(MTO1):c.453G>A (p.Gln151=)
NM_012123.4(MTO1):c.458G>A (p.Gly153Glu)
NM_012123.4(MTO1):c.45C>T (p.Phe15=)
NM_012123.4(MTO1):c.464T>C (p.Val155Ala)
NM_012123.4(MTO1):c.469G>T (p.Asp157Tyr)
NM_012123.4(MTO1):c.478_480del (p.Leu160del) rs761485089
NM_012123.4(MTO1):c.496G>A (p.Glu166Lys) rs989384303
NM_012123.4(MTO1):c.49A>C (p.Lys17Gln)
NM_012123.4(MTO1):c.502A>T (p.Thr168Ser)
NM_012123.4(MTO1):c.515G>A (p.Arg172His)
NM_012123.4(MTO1):c.515G>C (p.Arg172Pro)
NM_012123.4(MTO1):c.525_526del (p.Val176fs)
NM_012123.4(MTO1):c.530T>C (p.Val177Ala) rs1771005240
NM_012123.4(MTO1):c.535+17G>A
NM_012123.4(MTO1):c.535+1G>A
NM_012123.4(MTO1):c.535+4C>T
NM_012123.4(MTO1):c.535+5G>T rs1405997705
NM_012123.4(MTO1):c.536-10T>G
NM_012123.4(MTO1):c.536-11T>G
NM_012123.4(MTO1):c.536-19_536-18del rs2150031332
NM_012123.4(MTO1):c.536-3dup
NM_012123.4(MTO1):c.536-4T>G
NM_012123.4(MTO1):c.536-9G>A
NM_012123.4(MTO1):c.549A>C (p.Thr183=)
NM_012123.4(MTO1):c.567_569del (p.Ile190del)
NM_012123.4(MTO1):c.598A>C (p.Met200Leu)
NM_012123.4(MTO1):c.59T>C (p.Phe20Ser) rs1770828389
NM_012123.4(MTO1):c.605T>C (p.Val202Ala) rs1206431304
NM_012123.4(MTO1):c.60_61delinsAA (p.Phe20_Pro21delinsLeuThr) rs2150024353
NM_012123.4(MTO1):c.612A>C (p.Gly204=)
NM_012123.4(MTO1):c.613T>C (p.Leu205=) rs1464415140
NM_012123.4(MTO1):c.61C>G (p.Pro21Ala) rs753873871
NM_012123.4(MTO1):c.61C>T (p.Pro21Ser) rs753873871
NM_012123.4(MTO1):c.620C>G (p.Thr207Arg)
NM_012123.4(MTO1):c.621G>T (p.Thr207=)
NM_012123.4(MTO1):c.630A>G (p.Ala210=) rs2150031442
NM_012123.4(MTO1):c.639A>C (p.Leu213Phe)
NM_012123.4(MTO1):c.641G>A (p.Gly214Glu)
NM_012123.4(MTO1):c.648G>C (p.Gln216His)
NM_012123.4(MTO1):c.648del (p.Gln216fs)
NM_012123.4(MTO1):c.652T>C (p.Ser218Pro)
NM_012123.4(MTO1):c.660A>G (p.Gly220=)
NM_012123.4(MTO1):c.666T>C (p.Ala222=)
NM_012123.4(MTO1):c.667C>G (p.Gln223Glu)
NM_012123.4(MTO1):c.667C>T (p.Gln223Ter) rs2150031480
NM_012123.4(MTO1):c.672A>G (p.Thr224=)
NM_012123.4(MTO1):c.674T>G (p.Leu225Arg) rs1327928200
NM_012123.4(MTO1):c.681G>A (p.Lys227=) rs781586985
NM_012123.4(MTO1):c.681G>T (p.Lys227Asn) rs781586985
NM_012123.4(MTO1):c.694G>T (p.Val232Leu)
NM_012123.4(MTO1):c.708G>A (p.Lys236=)
NM_012123.4(MTO1):c.718C>T (p.Pro240Ser) rs1192411843
NM_012123.4(MTO1):c.71G>A (p.Arg24Gln) rs200417760
NM_012123.4(MTO1):c.724del (p.Arg242fs)
NM_012123.4(MTO1):c.725G>A (p.Arg242Gln)
NM_012123.4(MTO1):c.734_735del (p.Lys245fs) rs755954353
NM_012123.4(MTO1):c.762C>T (p.Asn254=) rs1771216320
NM_012123.4(MTO1):c.765G>C (p.Lys255Asn)
NM_012123.4(MTO1):c.767A>G (p.His256Arg) rs1771216675
NM_012123.4(MTO1):c.773C>T (p.Pro258Leu) rs868497455
NM_012123.4(MTO1):c.774G>T (p.Pro258=) rs748667460
NM_012123.4(MTO1):c.783A>G (p.Pro261=)
NM_012123.4(MTO1):c.80G>T (p.Ser27Ile) rs2150024378
NM_012123.4(MTO1):c.813A>G (p.Thr271=)
NM_012123.4(MTO1):c.818G>C (p.Trp273Ser) rs2150031602
NM_012123.4(MTO1):c.825+10_825+29del rs1177694932
NM_012123.4(MTO1):c.825+11T>C
NM_012123.4(MTO1):c.825+14C>T
NM_012123.4(MTO1):c.826-10T>C
NM_012123.4(MTO1):c.828A>G (p.Pro276=)
NM_012123.4(MTO1):c.83A>C (p.Asp28Ala) rs1770829413
NM_012123.4(MTO1):c.840G>T (p.Leu280=) rs749351702
NM_012123.4(MTO1):c.846T>C (p.Cys282=)
NM_012123.4(MTO1):c.850T>C (p.Leu284=)
NM_012123.4(MTO1):c.85A>T (p.Ser29Cys) rs2150024386
NM_012123.4(MTO1):c.862A>C (p.Asn288His)
NM_012123.4(MTO1):c.874G>A (p.Asp292Asn)
NM_012123.4(MTO1):c.882T>A (p.Ile294=)
NM_012123.4(MTO1):c.886C>T (p.Leu296Phe)
NM_012123.4(MTO1):c.8A>C (p.Tyr3Ser)
NM_012123.4(MTO1):c.8A>G (p.Tyr3Cys)
NM_012123.4(MTO1):c.901C>T (p.Leu301Phe)
NM_012123.4(MTO1):c.911A>C (p.His304Pro) rs1771433572
NM_012123.4(MTO1):c.913G>A (p.Val305Ile) rs1457365776
NM_012123.4(MTO1):c.917A>G (p.Lys306Arg) rs1582684383
NM_012123.4(MTO1):c.923C>T (p.Thr308Met)
NM_012123.4(MTO1):c.924G>A (p.Thr308=) rs962712902
NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)
NM_012123.4(MTO1):c.938+14G>A
NM_012123.4(MTO1):c.938+20G>T
NM_012123.4(MTO1):c.938+7= rs7766570
NM_012123.4(MTO1):c.939-10T>C
NM_012123.4(MTO1):c.939-10del rs1064794699
NM_012123.4(MTO1):c.939-6T>G
NM_012123.4(MTO1):c.93G>A (p.Ala31=)
NM_012123.4(MTO1):c.961A>T (p.Lys321Ter) rs148667065
NM_012123.4(MTO1):c.967_968del (p.Leu323fs) rs2150035785
NM_012123.4(MTO1):c.96C>G (p.Pro32=) rs938648582
NM_012123.4(MTO1):c.970del (p.Arg324fs)
NM_012123.4(MTO1):c.971G>A (p.Arg324His)
NM_012123.4(MTO1):c.979A>T (p.Asn327Tyr)
NM_012123.4(MTO1):c.97C>G (p.Arg33Gly) rs769059204
NM_012123.4(MTO1):c.983G>T (p.Arg328Leu) rs142148270
NM_012123.4(MTO1):c.986T>A (p.Leu329Gln) rs2150035811
NM_012123.4(MTO1):c.987A>G (p.Leu329=)
NM_012123.4(MTO1):c.990T>A (p.His330Gln) rs2150035817
NM_012123.4(MTO1):c.994G>A (p.Val332Ile) rs1173140501
NM_012123.4(MTO1):c.9C>T (p.Tyr3=)
NM_018127.7(ELAC2):c.1006C>T (p.Pro336Ser) rs565351884
NM_018127.7(ELAC2):c.1011G>T (p.Val337=)
NM_018127.7(ELAC2):c.1014C>T (p.Ala338=) rs2143613110
NM_018127.7(ELAC2):c.1017GGT[1] (p.Val341del) rs1344475140
NM_018127.7(ELAC2):c.102G>A (p.Lys34=)
NM_018127.7(ELAC2):c.1030G>A (p.Ala344Thr)
NM_018127.7(ELAC2):c.1034C>G (p.Pro345Arg) rs2143612955
NM_018127.7(ELAC2):c.1038A>T (p.Ala346=)
NM_018127.7(ELAC2):c.1039T>C (p.Ser347Pro)
NM_018127.7(ELAC2):c.1048G>A (p.Val350Met) rs2143612862
NM_018127.7(ELAC2):c.1049T>G (p.Val350Gly) rs2143612845
NM_018127.7(ELAC2):c.1052A>G (p.Asp351Gly)
NM_018127.7(ELAC2):c.1053C>G (p.Asp351Glu) rs991150757
NM_018127.7(ELAC2):c.1053C>T (p.Asp351=)
NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter)
NM_018127.7(ELAC2):c.1062C>T (p.Tyr354=)
NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter)
NM_018127.7(ELAC2):c.106C>T (p.Pro36Ser)
NM_018127.7(ELAC2):c.1079+19C>T
NM_018127.7(ELAC2):c.1079+20G>A
NM_018127.7(ELAC2):c.107C>T (p.Pro36Leu)
NM_018127.7(ELAC2):c.1080-16dup
NM_018127.7(ELAC2):c.1080-18G>A rs775647349
NM_018127.7(ELAC2):c.1080-19C>G
NM_018127.7(ELAC2):c.1080-1G>C rs2143607002
NM_018127.7(ELAC2):c.1080-20C>A
NM_018127.7(ELAC2):c.1080-3C>T rs538756575
NM_018127.7(ELAC2):c.1080-5C>T
NM_018127.7(ELAC2):c.1081T>G (p.Phe361Val)
NM_018127.7(ELAC2):c.1094C>T (p.Thr365Ile) rs1000361851
NM_018127.7(ELAC2):c.1098G>A (p.Gln366=)
NM_018127.7(ELAC2):c.1108C>G (p.Leu370Val) rs2143606789
NM_018127.7(ELAC2):c.1119C>T (p.Asn373=)
NM_018127.7(ELAC2):c.1120_1121delinsCT (p.Cys374Leu) rs2143606682
NM_018127.7(ELAC2):c.1129G>T (p.Val377Phe) rs1411516008
NM_018127.7(ELAC2):c.1137C>A (p.Asn379Lys)
NM_018127.7(ELAC2):c.1147C>A (p.His383Asn) rs187129692
NM_018127.7(ELAC2):c.1147C>T (p.His383Tyr)
NM_018127.7(ELAC2):c.1163A>G (p.Gln388Arg) rs759815679
NM_018127.7(ELAC2):c.1169A>G (p.Asn390Ser)
NM_018127.7(ELAC2):c.1171C>G (p.Leu391Val)
NM_018127.7(ELAC2):c.1173C>T (p.Leu391=)
NM_018127.7(ELAC2):c.117C>A (p.His39Gln) rs748570371
NM_018127.7(ELAC2):c.117C>T (p.His39=)
NM_018127.7(ELAC2):c.1182G>A (p.Pro394=)
NM_018127.7(ELAC2):c.1185C>T (p.Asp395=)
NM_018127.7(ELAC2):c.1186A>T (p.Ile396Phe) rs149544601
NM_018127.7(ELAC2):c.1189T>C (p.Phe397Leu) rs2143606118
NM_018127.7(ELAC2):c.118C>G (p.Leu40Val)
NM_018127.7(ELAC2):c.1191C>T (p.Phe397=) rs1167915234
NM_018127.7(ELAC2):c.1200C>A (p.Leu400=)
NM_018127.7(ELAC2):c.120G>A (p.Leu40=) rs368781017
NM_018127.7(ELAC2):c.1211G>A (p.Arg404His) rs200565641
NM_018127.7(ELAC2):c.1211G>T (p.Arg404Leu) rs200565641
NM_018127.7(ELAC2):c.1212C>T (p.Arg404=) rs2143605832
NM_018127.7(ELAC2):c.1214G>A (p.Cys405Tyr)
NM_018127.7(ELAC2):c.1214del (p.Cys405fs)
NM_018127.7(ELAC2):c.1218+19C>T
NM_018127.7(ELAC2):c.1218+5T>C rs1365154419
NM_018127.7(ELAC2):c.1218G>A (p.Lys406=) rs777546567
NM_018127.7(ELAC2):c.1219-12T>C
NM_018127.7(ELAC2):c.1233C>T (p.Thr411=)
NM_018127.7(ELAC2):c.1237A>T (p.Ser413Cys) rs754722229
NM_018127.7(ELAC2):c.1238G>A (p.Ser413Asn) rs1446980653
NM_018127.7(ELAC2):c.1242G>A (p.Val414=)
NM_018127.7(ELAC2):c.1245del (p.Met416fs)
NM_018127.7(ELAC2):c.1248G>A (p.Met416Ile)
NM_018127.7(ELAC2):c.1255G>A (p.Gly419Ser)
NM_018127.7(ELAC2):c.1262G>C (p.Cys421Ser)
NM_018127.7(ELAC2):c.1264C>T (p.Leu422Phe) rs1311991142
NM_018127.7(ELAC2):c.1266C>G (p.Leu422=) rs764718395
NM_018127.7(ELAC2):c.126G>C (p.Thr42=)
NM_018127.7(ELAC2):c.1275C>T (p.Tyr425=)
NM_018127.7(ELAC2):c.1278G>A (p.Gln426=) rs1360216860
NM_018127.7(ELAC2):c.1289G>C (p.Arg430Thr)
NM_018127.7(ELAC2):c.12T>C (p.Leu4=)
NM_018127.7(ELAC2):c.1304+15G>A
NM_018127.7(ELAC2):c.1304+9C>T
NM_018127.7(ELAC2):c.1305-11_1305-8del
NM_018127.7(ELAC2):c.1305-12C>G
NM_018127.7(ELAC2):c.1305-12C>T rs779858810
NM_018127.7(ELAC2):c.1305-14C>T
NM_018127.7(ELAC2):c.1305-20G>A
NM_018127.7(ELAC2):c.1305-6dup rs200410915
NM_018127.7(ELAC2):c.1305-8_1305-7insTC
NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC rs201830045
NM_018127.7(ELAC2):c.1305G>T (p.Arg435Ser) rs1205360358
NM_018127.7(ELAC2):c.1323C>T (p.Cys441=)
NM_018127.7(ELAC2):c.1348G>T (p.Ala450Ser)
NM_018127.7(ELAC2):c.1349C>T (p.Ala450Val)
NM_018127.7(ELAC2):c.134A>C (p.Lys45Thr) rs745328310
NM_018127.7(ELAC2):c.1373A>G (p.Gln458Arg) rs1567751319
NM_018127.7(ELAC2):c.1377C>T (p.Ser459=) rs1337946720
NM_018127.7(ELAC2):c.1385A>C (p.Glu462Ala) rs1310120837
NM_018127.7(ELAC2):c.1392GAG[1] (p.Arg465del) rs758221167
NM_018127.7(ELAC2):c.1394G>A (p.Arg465Lys)
NM_018127.7(ELAC2):c.1401G>A (p.Ala467=) rs146858023
NM_018127.7(ELAC2):c.1401G>T (p.Ala467=) rs146858023
NM_018127.7(ELAC2):c.1405G>A (p.Asp469Asn)
NM_018127.7(ELAC2):c.1407C>T (p.Asp469=)
NM_018127.7(ELAC2):c.1418C>A (p.Pro473Gln)
NM_018127.7(ELAC2):c.141A>G (p.Gly47=) rs1240011554
NM_018127.7(ELAC2):c.1423+11G>T
NM_018127.7(ELAC2):c.1423+19A>G
NM_018127.7(ELAC2):c.1423+9G>T
NM_018127.7(ELAC2):c.1424-12A>G
NM_018127.7(ELAC2):c.1424-3C>T rs878855048
NM_018127.7(ELAC2):c.1424-5dup
NM_018127.7(ELAC2):c.1424-6del rs2040589080
NM_018127.7(ELAC2):c.1424-6dup
NM_018127.7(ELAC2):c.1428AAG[1] (p.Arg477del) rs779224899
NM_018127.7(ELAC2):c.1431A>T (p.Arg477Ser)
NM_018127.7(ELAC2):c.1434T>A (p.Ser478Arg)
NM_018127.7(ELAC2):c.1437G>A (p.Gln479=)
NM_018127.7(ELAC2):c.1440C>T (p.Tyr480=)
NM_018127.7(ELAC2):c.1442C>T (p.Pro481Leu)
NM_018127.7(ELAC2):c.144G>T (p.Pro48=)
NM_018127.7(ELAC2):c.1452C>A (p.Ile484=)
NM_018127.7(ELAC2):c.145T>C (p.Ser49Pro) rs1555584447
NM_018127.7(ELAC2):c.1463C>G (p.Thr488Arg)
NM_018127.7(ELAC2):c.1463C>T (p.Thr488Ile) rs931963687
NM_018127.7(ELAC2):c.1464A>G (p.Thr488=)
NM_018127.7(ELAC2):c.1476C>G (p.Ile492Met)
NM_018127.7(ELAC2):c.1478C>G (p.Pro493Arg)
NM_018127.7(ELAC2):c.1479G>A (p.Pro493=) rs140335642
NM_018127.7(ELAC2):c.1481T>C (p.Met494Thr)
NM_018127.7(ELAC2):c.1507C>T (p.Leu503Phe)
NM_018127.7(ELAC2):c.151T>C (p.Cys51Arg) rs2041834237
NM_018127.7(ELAC2):c.1520+7T>C
NM_018127.7(ELAC2):c.1520+9C>T
NM_018127.7(ELAC2):c.1521-2A>G
NM_018127.7(ELAC2):c.1535dup (p.Leu513fs)
NM_018127.7(ELAC2):c.1547G>A (p.Cys516Tyr) rs970054118
NM_018127.7(ELAC2):c.154T>C (p.Ser52Pro) rs755823018
NM_018127.7(ELAC2):c.1550G>T (p.Gly517Val)
NM_018127.7(ELAC2):c.1559_1560inv (p.Thr520Met)
NM_018127.7(ELAC2):c.155C>A (p.Ser52Tyr) rs9895963
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys) rs9895963
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe) rs9895963
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=) rs11545302
NM_018127.7(ELAC2):c.1560A>T (p.Thr520=)
NM_018127.7(ELAC2):c.1563T>G (p.Phe521Leu) rs761488832
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) rs2040486497
NM_018127.7(ELAC2):c.156C>A (p.Ser52=)
NM_018127.7(ELAC2):c.157G>T (p.Gly53Cys) rs1598280792
NM_018127.7(ELAC2):c.1585G>A (p.Gly529Arg) rs1567746262
NM_018127.7(ELAC2):c.159C>G (p.Gly53=)
NM_018127.7(ELAC2):c.161G>T (p.Gly54Val)
NM_018127.7(ELAC2):c.1626G>A (p.Val542=)
NM_018127.7(ELAC2):c.162C>G (p.Gly54=) rs2143697041
NM_018127.7(ELAC2):c.1630G>T (p.Val544Leu)
NM_018127.7(ELAC2):c.1638C>T (p.His546=) rs1489337164
NM_018127.7(ELAC2):c.1639C>A (p.Leu547Met)
NM_018127.7(ELAC2):c.1641G>A (p.Leu547=) rs1598205310
NM_018127.7(ELAC2):c.1644C>T (p.His548=)
NM_018127.7(ELAC2):c.1648G>T (p.Asp550Tyr)
NM_018127.7(ELAC2):c.1651C>A (p.His551Asn) rs1487812489
NM_018127.7(ELAC2):c.1659+12G>C
NM_018127.7(ELAC2):c.1659+12G>T
NM_018127.7(ELAC2):c.1659+20A>G
NM_018127.7(ELAC2):c.1659+2dup
NM_018127.7(ELAC2):c.1659+3G>A rs374767852
NM_018127.7(ELAC2):c.1659+5G>A rs2143568451
NM_018127.7(ELAC2):c.1659+8T>C
NM_018127.7(ELAC2):c.1659G>C (p.Thr553=)
NM_018127.7(ELAC2):c.1660-10T>C rs1373415355
NM_018127.7(ELAC2):c.1660-10T>G
NM_018127.7(ELAC2):c.1660-17T>G rs2143564288
NM_018127.7(ELAC2):c.1662C>T (p.Gly554=)
NM_018127.7(ELAC2):c.1666C>G (p.Pro556Ala) rs2040449069
NM_018127.7(ELAC2):c.1670G>A (p.Ser557Asn)
NM_018127.7(ELAC2):c.1673T>C (p.Ile558Thr)
NM_018127.7(ELAC2):c.1674C>T (p.Ile558=)
NM_018127.7(ELAC2):c.1675T>G (p.Leu559Val)
NM_018127.7(ELAC2):c.1676TGC[1] (p.Leu560del) rs2040448051
NM_018127.7(ELAC2):c.1678C>T (p.Leu560=)
NM_018127.7(ELAC2):c.1679T>A (p.Leu560Gln)
NM_018127.7(ELAC2):c.1690C>T (p.Arg564Cys)
NM_018127.7(ELAC2):c.1693G>A (p.Ala565Thr)
NM_018127.7(ELAC2):c.1696T>C (p.Leu566=) rs2143563741
NM_018127.7(ELAC2):c.1698+5G>A rs910420350
NM_018127.7(ELAC2):c.1699-15C>A rs754311468
NM_018127.7(ELAC2):c.1699-15C>G
NM_018127.7(ELAC2):c.1699-16G>A rs765833496
NM_018127.7(ELAC2):c.1699-1G>A
NM_018127.7(ELAC2):c.1699-8dup rs878855049
NM_018127.7(ELAC2):c.1702T>C (p.Ser568Pro) rs2143562579
NM_018127.7(ELAC2):c.1706del (p.Leu569fs) rs2143562536
NM_018127.7(ELAC2):c.1713G>A (p.Lys571=)
NM_018127.7(ELAC2):c.1715C>T (p.Pro572Leu)
NM_018127.7(ELAC2):c.1716G>T (p.Pro572=)
NM_018127.7(ELAC2):c.171C>G (p.Thr57=)
NM_018127.7(ELAC2):c.1727dup (p.Leu576fs)
NM_018127.7(ELAC2):c.1729C>G (p.Leu577Val)
NM_018127.7(ELAC2):c.1731_1732delinsCT (p.Val578Leu) rs2143562254
NM_018127.7(ELAC2):c.1735G>C (p.Val579Leu) rs1365874986
NM_018127.7(ELAC2):c.1745A>G (p.Asn582Ser)
NM_018127.7(ELAC2):c.174G>C (p.Val58=)
NM_018127.7(ELAC2):c.1770G>C (p.Gln590His)
NM_018127.7(ELAC2):c.1778A>G (p.Asn593Ser)
NM_018127.7(ELAC2):c.1780C>G (p.Gln594Glu) rs1435693717
NM_018127.7(ELAC2):c.1794C>T (p.Val598=)
NM_018127.7(ELAC2):c.1796T>C (p.Leu599Pro) rs2143561613
NM_018127.7(ELAC2):c.1808+14del rs761236461
NM_018127.7(ELAC2):c.1808+4A>G rs1044835449
NM_018127.7(ELAC2):c.1808+7A>G
NM_018127.7(ELAC2):c.1809-10C>T rs2040403434
NM_018127.7(ELAC2):c.1809-14T>G
NM_018127.7(ELAC2):c.1809-19A>G
NM_018127.7(ELAC2):c.1809-1G>A
NM_018127.7(ELAC2):c.1809-5del
NM_018127.7(ELAC2):c.180G>C (p.Leu60=)
NM_018127.7(ELAC2):c.1823A>G (p.Lys608Arg) rs2143557076
NM_018127.7(ELAC2):c.183G>T (p.Gln61His)
NM_018127.7(ELAC2):c.1845G>A (p.Glu615=)
NM_018127.7(ELAC2):c.1848C>G (p.Ile616Met)
NM_018127.7(ELAC2):c.184G>C (p.Val62Leu)
NM_018127.7(ELAC2):c.1850C>G (p.Ser617Cys) rs2143556871
NM_018127.7(ELAC2):c.1861G>C (p.Val621Leu)
NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter)
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) rs119484087
NM_018127.7(ELAC2):c.1870T>C (p.Leu624=)
NM_018127.7(ELAC2):c.1884G>A (p.Leu628=) rs375891204
NM_018127.7(ELAC2):c.1889G>A (p.Arg630Gln)
NM_018127.7(ELAC2):c.1897G>A (p.Asp633Asn) rs2143556453
NM_018127.7(ELAC2):c.1908+16G>A rs773964699
NM_018127.7(ELAC2):c.1908+16G>T rs773964699
NM_018127.7(ELAC2):c.1908+1G>A rs1014558424
NM_018127.7(ELAC2):c.1908+20G>A
NM_018127.7(ELAC2):c.1908+3A>G rs1164400207
NM_018127.7(ELAC2):c.1908+7G>A
NM_018127.7(ELAC2):c.1908+8G>A
NM_018127.7(ELAC2):c.1908+9C>T
NM_018127.7(ELAC2):c.1908G>A (p.Glu636=)
NM_018127.7(ELAC2):c.1909-11C>T
NM_018127.7(ELAC2):c.1909-14C>T
NM_018127.7(ELAC2):c.1917C>T (p.Thr639=)
NM_018127.7(ELAC2):c.1926G>A (p.Val642=)
NM_018127.7(ELAC2):c.1928G>A (p.Arg643Gln) rs199545091
NM_018127.7(ELAC2):c.1928G>T (p.Arg643Leu)
NM_018127.7(ELAC2):c.1935C>T (p.Cys645=)
NM_018127.7(ELAC2):c.1937A>G (p.Lys646Arg)
NM_018127.7(ELAC2):c.1940A>T (p.His647Leu) rs1343793177
NM_018127.7(ELAC2):c.1944G>A (p.Ala648=)
NM_018127.7(ELAC2):c.1944G>T (p.Ala648=)
NM_018127.7(ELAC2):c.1959G>A (p.Leu653=)
NM_018127.7(ELAC2):c.1962G>A (p.Val654=)
NM_018127.7(ELAC2):c.1985T>C (p.Val662Ala) rs1555572124
NM_018127.7(ELAC2):c.1986C>T (p.Val662=) rs772271496
NM_018127.7(ELAC2):c.198T>C (p.Gly66=)
NM_018127.7(ELAC2):c.1999A>G (p.Thr667Ala)
NM_018127.7(ELAC2):c.2000C>T (p.Thr667Ile) rs961586097
NM_018127.7(ELAC2):c.2003T>C (p.Met668Thr) rs376231184
NM_018127.7(ELAC2):c.200G>T (p.Ser67Ile) rs1386145788
NM_018127.7(ELAC2):c.2010C>T (p.Cys670=) rs1598197387
NM_018127.7(ELAC2):c.2026A>G (p.Met676Val) rs2143554465
NM_018127.7(ELAC2):c.2029+10G>A rs2143554371
NM_018127.7(ELAC2):c.2029+11G>T rs2143554341
NM_018127.7(ELAC2):c.2029+19A>C
NM_018127.7(ELAC2):c.2029+1G>A
NM_018127.7(ELAC2):c.2029+5G>A
NM_018127.7(ELAC2):c.202C>T (p.Arg68Trp)
NM_018127.7(ELAC2):c.2030-11T>C
NM_018127.7(ELAC2):c.2030-12C>T
NM_018127.7(ELAC2):c.2030-18del
NM_018127.7(ELAC2):c.2030-3del rs768715038
NM_018127.7(ELAC2):c.2030-4C>T
NM_018127.7(ELAC2):c.2034A>G (p.Lys678=)
NM_018127.7(ELAC2):c.2047C>T (p.Leu683=)
NM_018127.7(ELAC2):c.2049G>A (p.Leu683=)
NM_018127.7(ELAC2):c.2064C>T (p.Thr688=)
NM_018127.7(ELAC2):c.2066T>G (p.Leu689Arg) rs2040364723
NM_018127.7(ELAC2):c.2073T>C (p.Asp691=)
NM_018127.7(ELAC2):c.2080G>A (p.Glu694Lys) rs1426760558
NM_018127.7(ELAC2):c.2085G>A (p.Glu695=)
NM_018127.7(ELAC2):c.2096A>C (p.Glu699Ala)
NM_018127.7(ELAC2):c.2108+8del rs2143551878
NM_018127.7(ELAC2):c.2108+9G>A rs2143551870
NM_018127.7(ELAC2):c.2109-15G>A
NM_018127.7(ELAC2):c.2109-18T>C
NM_018127.7(ELAC2):c.2109-6_2111del
NM_018127.7(ELAC2):c.2114C>A (p.Thr705Lys)
NM_018127.7(ELAC2):c.2121A>G (p.Gln707=)
NM_018127.7(ELAC2):c.2123C>T (p.Ala708Val) rs2040327532
NM_018127.7(ELAC2):c.212G>C (p.Gly71Ala) rs1185274134
NM_018127.7(ELAC2):c.2142G>T (p.Arg714=) rs878855050
NM_018127.7(ELAC2):c.2144del (p.Met715fs)
NM_018127.7(ELAC2):c.214G>A (p.Ala72Thr)
NM_018127.7(ELAC2):c.215C>T (p.Ala72Val)
NM_018127.7(ELAC2):c.2164C>T (p.Leu722=)
NM_018127.7(ELAC2):c.2166G>C (p.Leu722=) rs747933914
NM_018127.7(ELAC2):c.2175C>T (p.Phe725=)
NM_018127.7(ELAC2):c.2179C>T (p.Gln727Ter) rs946948334
NM_018127.7(ELAC2):c.2183G>A (p.Arg728His)
NM_018127.7(ELAC2):c.2184C>G (p.Arg728=) rs2143547737
NM_018127.7(ELAC2):c.218C>A (p.Ala73Glu) rs2143696607
NM_018127.7(ELAC2):c.2190C>T (p.Ala730=) rs2143547695
NM_018127.7(ELAC2):c.2209C>T (p.Pro737Ser) rs2143547589
NM_018127.7(ELAC2):c.220C>T (p.Leu74Phe) rs752421786
NM_018127.7(ELAC2):c.2223G>A (p.Glu741=)
NM_018127.7(ELAC2):c.2227G>A (p.Val743Met)
NM_018127.7(ELAC2):c.222C>T (p.Leu74=)
NM_018127.7(ELAC2):c.2233G>A (p.Val745Ile)
NM_018127.7(ELAC2):c.223T>C (p.Tyr75His)
NM_018127.7(ELAC2):c.2249T>C (p.Met750Thr)
NM_018127.7(ELAC2):c.2253+14_2253+15del rs778977916
NM_018127.7(ELAC2):c.2253+15C>T
NM_018127.7(ELAC2):c.2253+16G>A rs1483814202
NM_018127.7(ELAC2):c.2253+20A>G
NM_018127.7(ELAC2):c.2253+6_2253+321del rs2143544217
NM_018127.7(ELAC2):c.2254-13T>C
NM_018127.7(ELAC2):c.2254-14A>G
NM_018127.7(ELAC2):c.2254-9G>C
NM_018127.7(ELAC2):c.2255T>C (p.Val752Ala)
NM_018127.7(ELAC2):c.2266_2267del (p.Asp756fs) rs2040267666
NM_018127.7(ELAC2):c.2278_2298dup (p.Pro766_Leu767insMetProLysLeuIleProPro)
NM_018127.7(ELAC2):c.2289G>C (p.Leu763=) rs141048290
NM_018127.7(ELAC2):c.2297C>A (p.Pro766Gln)
NM_018127.7(ELAC2):c.2308_2309del (p.Leu770fs) rs753154933
NM_018127.7(ELAC2):c.2312_2313del (p.Phe771fs)
NM_018127.7(ELAC2):c.2320G>A (p.Asp774Asn)
NM_018127.7(ELAC2):c.2323A>G (p.Ile775Val)
NM_018127.7(ELAC2):c.2324T>A (p.Ile775Asn) rs1470895228
NM_018127.7(ELAC2):c.2325C>T (p.Ile775=) rs775479429
NM_018127.7(ELAC2):c.2326G>A (p.Glu776Lys)
NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)
NM_018127.7(ELAC2):c.2332A>C (p.Met778Leu)
NM_018127.7(ELAC2):c.2338_2349del (p.Glu780_Glu783del) rs1395507635
NM_018127.7(ELAC2):c.2342G>T (p.Arg781Leu) rs119484086
NM_018127.7(ELAC2):c.234C>G (p.Ser78=)
NM_018127.7(ELAC2):c.2351A>G (p.Lys784Arg)
NM_018127.7(ELAC2):c.2353C>T (p.Arg785Trp) rs1060502162
NM_018127.7(ELAC2):c.2365_2373dup (p.Arg791_Ala792insGlnValArg)
NM_018127.7(ELAC2):c.2367G>T (p.Gln789His) rs2143540323
NM_018127.7(ELAC2):c.2368G>A (p.Val790Met)
NM_018127.7(ELAC2):c.2374G>A (p.Ala792Thr) rs1567738119
NM_018127.7(ELAC2):c.2375_2380del (p.Ala792_Leu794delinsVal) rs2143540081
NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)
NM_018127.7(ELAC2):c.2380C>T (p.Leu794Phe)
NM_018127.7(ELAC2):c.2384T>C (p.Leu795Pro) rs917643446
NM_018127.7(ELAC2):c.2390G>A (p.Arg797Lys)
NM_018127.7(ELAC2):c.2392_2393delinsTT (p.Glu798Leu) rs2143539834
NM_018127.7(ELAC2):c.2392_2393inv (p.Glu798Ser)
NM_018127.7(ELAC2):c.2397G>A (p.Leu799=)
NM_018127.7(ELAC2):c.2402G>A (p.Gly801Asp)
NM_018127.7(ELAC2):c.240C>G (p.Phe80Leu) rs764484752
NM_018127.7(ELAC2):c.2410del (p.Glu804fs) rs2143539521
NM_018127.7(ELAC2):c.2412G>A (p.Glu804=) rs1165224986
NM_018127.7(ELAC2):c.2412G>T (p.Glu804Asp)
NM_018127.7(ELAC2):c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) rs878855051
NM_018127.7(ELAC2):c.2421G>A (p.Glu807=) rs2143539338
NM_018127.7(ELAC2):c.2422C>T (p.Pro808Ser)
NM_018127.7(ELAC2):c.2435G>A (p.Arg812Gln) rs560083267
NM_018127.7(ELAC2):c.2449G>A (p.Glu817Lys)
NM_018127.7(ELAC2):c.245+14C>T rs368694405
NM_018127.7(ELAC2):c.245+18G>T
NM_018127.7(ELAC2):c.245+9A>G
NM_018127.7(ELAC2):c.2454A>G (p.Pro818=)
NM_018127.7(ELAC2):c.2457G>C (p.Gln819His)
NM_018127.7(ELAC2):c.2458G>A (p.Ala820Thr)
NM_018127.7(ELAC2):c.2459C>G (p.Ala820Gly) rs1412024900
NM_018127.7(ELAC2):c.246-14T>C
NM_018127.7(ELAC2):c.246-18G>A
NM_018127.7(ELAC2):c.246-20G>C
NM_018127.7(ELAC2):c.246-2A>G rs2143692659
NM_018127.7(ELAC2):c.246-7C>A
NM_018127.7(ELAC2):c.246-8T>C
NM_018127.7(ELAC2):c.2465A>C (p.Lys822Thr)
NM_018127.7(ELAC2):c.2467G>A (p.Val823Ile)
NM_018127.7(ELAC2):c.2472_2473del (p.Arg824fs) rs2143538654
NM_018127.7(ELAC2):c.2480G>A (p.Ter827=)
NM_018127.7(ELAC2):c.257A>G (p.Asn86Ser)
NM_018127.7(ELAC2):c.268G>A (p.Gly90Ser)
NM_018127.7(ELAC2):c.273del (p.Gln92fs) rs748788377
NM_018127.7(ELAC2):c.282C>T (p.Leu94=) rs2143692376
NM_018127.7(ELAC2):c.283A>G (p.Met95Val)
NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter)
NM_018127.7(ELAC2):c.291G>C (p.Glu97Asp)
NM_018127.7(ELAC2):c.294C>T (p.His98=)
NM_018127.7(ELAC2):c.296+11C>T
NM_018127.7(ELAC2):c.296+13_296+14del
NM_018127.7(ELAC2):c.296+3_296+6dup rs1182540305
NM_018127.7(ELAC2):c.297-14T>G
NM_018127.7(ELAC2):c.297-2_297-1delinsT rs1060502161
NM_018127.7(ELAC2):c.297-3T>A
NM_018127.7(ELAC2):c.297-5del
NM_018127.7(ELAC2):c.297-8A>G
NM_018127.7(ELAC2):c.297-9C>A
NM_018127.7(ELAC2):c.299dup (p.Leu100fs)
NM_018127.7(ELAC2):c.29C>T (p.Ser10Phe) rs2143698286
NM_018127.7(ELAC2):c.30C>G (p.Ser10=)
NM_018127.7(ELAC2):c.317A>G (p.Asp106Gly)
NM_018127.7(ELAC2):c.325T>C (p.Phe109Leu) rs1060502163
NM_018127.7(ELAC2):c.333A>G (p.Thr111=)
NM_018127.7(ELAC2):c.33G>A (p.Ala11=)
NM_018127.7(ELAC2):c.360C>T (p.Gly120=)
NM_018127.7(ELAC2):c.361T>G (p.Leu121Val)
NM_018127.7(ELAC2):c.367+15T>C
NM_018127.7(ELAC2):c.367+15del
NM_018127.7(ELAC2):c.368-10T>C
NM_018127.7(ELAC2):c.368-7T>A
NM_018127.7(ELAC2):c.368G>A (p.Gly123Glu)
NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter)
NM_018127.7(ELAC2):c.385A>G (p.Lys129Glu) rs776742204
NM_018127.7(ELAC2):c.38G>A (p.Gly13Glu)
NM_018127.7(ELAC2):c.391A>G (p.Thr131Ala) rs2143685296
NM_018127.7(ELAC2):c.402A>G (p.Pro134=)
NM_018127.7(ELAC2):c.415T>C (p.Ser139Pro)
NM_018127.7(ELAC2):c.422C>T (p.Pro141Leu) rs1598274263
NM_018127.7(ELAC2):c.432+10T>C
NM_018127.7(ELAC2):c.432+11C>T
NM_018127.7(ELAC2):c.432+12del
NM_018127.7(ELAC2):c.432+17A>C
NM_018127.7(ELAC2):c.432+1del rs766739618
NM_018127.7(ELAC2):c.432+7C>T rs780918165
NM_018127.7(ELAC2):c.433-16C>T rs2143678464
NM_018127.7(ELAC2):c.433-20A>G rs780641263
NM_018127.7(ELAC2):c.433G>A (p.Glu145Lys)
NM_018127.7(ELAC2):c.444C>G (p.Leu148=)
NM_018127.7(ELAC2):c.447A>G (p.Glu149=) rs2143678294
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018127.7(ELAC2):c.465T>C (p.Ser155=)
NM_018127.7(ELAC2):c.472T>G (p.Leu158Val)
NM_018127.7(ELAC2):c.48G>A (p.Met16Ile)
NM_018127.7(ELAC2):c.490+11G>C
NM_018127.7(ELAC2):c.490+5G>A
NM_018127.7(ELAC2):c.491-4G>T
NM_018127.7(ELAC2):c.491-5T>C rs2143670362
NM_018127.7(ELAC2):c.491C>A (p.Ala164Asp)
NM_018127.7(ELAC2):c.493G>C (p.Val165Leu) rs2143670315
NM_018127.7(ELAC2):c.496C>G (p.Arg166Gly)
NM_018127.7(ELAC2):c.496C>T (p.Arg166Trp)
NM_018127.7(ELAC2):c.499C>T (p.Pro167Ser)
NM_018127.7(ELAC2):c.501C>G (p.Pro167=)
NM_018127.7(ELAC2):c.50C>G (p.Ser17Trp)
NM_018127.7(ELAC2):c.519C>T (p.Tyr173=) rs2143670005
NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter) rs374954001
NM_018127.7(ELAC2):c.526G>A (p.Glu176Lys)
NM_018127.7(ELAC2):c.532A>G (p.Met178Val) rs1052094774
NM_018127.7(ELAC2):c.536C>T (p.Thr179Ile) rs2143669875
NM_018127.7(ELAC2):c.53A>C (p.Gln18Pro)
NM_018127.7(ELAC2):c.549C>G (p.Ile183Met)
NM_018127.7(ELAC2):c.554T>C (p.Ile185Thr)
NM_018127.7(ELAC2):c.557A>G (p.His186Arg)
NM_018127.7(ELAC2):c.559+12del
NM_018127.7(ELAC2):c.559+18G>A rs2041518961
NM_018127.7(ELAC2):c.559+7A>G
NM_018127.7(ELAC2):c.559+8T>C rs2143669591
NM_018127.7(ELAC2):c.560-12T>C
NM_018127.7(ELAC2):c.560-15A>G rs2041429226
NM_018127.7(ELAC2):c.560-18G>A
NM_018127.7(ELAC2):c.560-1G>A rs2143661948
NM_018127.7(ELAC2):c.560-6G>A rs2143661977
NM_018127.7(ELAC2):c.56_73del (p.Gly19_Gln24del) rs771710773
NM_018127.7(ELAC2):c.576A>G (p.Gly192=) rs1410606129
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) rs1359575116
NM_018127.7(ELAC2):c.593A>G (p.Gln198Arg)
NM_018127.7(ELAC2):c.597T>A (p.Ser199Arg)
NM_018127.7(ELAC2):c.604A>G (p.Arg202Gly)
NM_018127.7(ELAC2):c.606G>A (p.Arg202=)
NM_018127.7(ELAC2):c.613A>G (p.Ser205Gly) rs2143661549
NM_018127.7(ELAC2):c.621C>T (p.Leu207=)
NM_018127.7(ELAC2):c.627A>G (p.Pro209=)
NM_018127.7(ELAC2):c.63C>A (p.Thr21=)
NM_018127.7(ELAC2):c.640G>C (p.Asp214His)
NM_018127.7(ELAC2):c.646G>A (p.Glu216Lys) rs1382116568
NM_018127.7(ELAC2):c.660T>C (p.Asn220=)
NM_018127.7(ELAC2):c.660T>G (p.Asn220Lys)
NM_018127.7(ELAC2):c.665C>G (p.Pro222Arg) rs2143661121
NM_018127.7(ELAC2):c.667C>T (p.His223Tyr) rs1335862034
NM_018127.7(ELAC2):c.66A>G (p.Ile22Met) rs2041840491
NM_018127.7(ELAC2):c.679+11A>G rs937695443
NM_018127.7(ELAC2):c.679+14C>G
NM_018127.7(ELAC2):c.680-12G>C
NM_018127.7(ELAC2):c.680-14G>A
NM_018127.7(ELAC2):c.680-16G>C
NM_018127.7(ELAC2):c.684T>C (p.Val228=)
NM_018127.7(ELAC2):c.689A>G (p.Gln230Arg)
NM_018127.7(ELAC2):c.692G>A (p.Arg231Lys) rs1259675163
NM_018127.7(ELAC2):c.713C>T (p.Ser238Phe)
NM_018127.7(ELAC2):c.714C>G (p.Ser238=)
NM_018127.7(ELAC2):c.720C>T (p.Val240=)
NM_018127.7(ELAC2):c.738+12T>A
NM_018127.7(ELAC2):c.738+13T>C
NM_018127.7(ELAC2):c.738+14T>G
NM_018127.7(ELAC2):c.738+15C>G
NM_018127.7(ELAC2):c.739-13_739-9del
NM_018127.7(ELAC2):c.739-20C>G
NM_018127.7(ELAC2):c.744C>G (p.His248Gln)
NM_018127.7(ELAC2):c.752G>A (p.Arg251Lys) rs2041085908
NM_018127.7(ELAC2):c.75A>C (p.Ala25=)
NM_018127.7(ELAC2):c.766del (p.Val256fs) rs2041085400
NM_018127.7(ELAC2):c.792C>T (p.Leu264=)
NM_018127.7(ELAC2):c.793C>G (p.Pro265Ala)
NM_018127.7(ELAC2):c.797+11G>C
NM_018127.7(ELAC2):c.797+14del rs748817791
NM_018127.7(ELAC2):c.797+16A>G rs895800256
NM_018127.7(ELAC2):c.797+1G>A
NM_018127.7(ELAC2):c.797+20C>T
NM_018127.7(ELAC2):c.797+8T>C
NM_018127.7(ELAC2):c.797+8T>G
NM_018127.7(ELAC2):c.797+8_797+9del
NM_018127.7(ELAC2):c.797+9G>A
NM_018127.7(ELAC2):c.797+9G>C rs762820869
NM_018127.7(ELAC2):c.798-19C>T
NM_018127.7(ELAC2):c.814G>T (p.Ala272Ser) rs765353090
NM_018127.7(ELAC2):c.828T>C (p.Ala276=)
NM_018127.7(ELAC2):c.838G>A (p.Asp280Asn) rs953161128
NM_018127.7(ELAC2):c.83G>A (p.Arg28His) rs1192697057
NM_018127.7(ELAC2):c.840C>G (p.Asp280Glu) rs369092504
NM_018127.7(ELAC2):c.851_853del (p.Ile284del) rs2041067692
NM_018127.7(ELAC2):c.855T>C (p.Thr285=)
NM_018127.7(ELAC2):c.858T>C (p.His286=)
NM_018127.7(ELAC2):c.85_86delinsTT (p.Arg29Phe) rs2143697792
NM_018127.7(ELAC2):c.863_866del (p.Gly288fs)
NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs)
NM_018127.7(ELAC2):c.871-10G>A
NM_018127.7(ELAC2):c.871-11del rs781302974
NM_018127.7(ELAC2):c.871-18G>A
NM_018127.7(ELAC2):c.871-9G>C rs750378111
NM_018127.7(ELAC2):c.87C>G (p.Arg29=)
NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)
NM_018127.7(ELAC2):c.897T>C (p.Pro299=)
NM_018127.7(ELAC2):c.8C>G (p.Ala3Gly)
NM_018127.7(ELAC2):c.900A>G (p.Pro300=) rs1567758616
NM_018127.7(ELAC2):c.908G>T (p.Gly303Val) rs188256643
NM_018127.7(ELAC2):c.921G>C (p.Val307=)
NM_018127.7(ELAC2):c.924G>C (p.Val308=) rs2143621668
NM_018127.7(ELAC2):c.934C>T (p.Pro312Ser) rs912946000
NM_018127.7(ELAC2):c.949A>G (p.Ile317Val) rs2041026993
NM_018127.7(ELAC2):c.957C>T (p.Pro319=)
NM_018127.7(ELAC2):c.972C>T (p.Ala324=)
NM_018127.7(ELAC2):c.975C>G (p.Thr325=)
NM_018127.7(ELAC2):c.983+17A>G
NM_018127.7(ELAC2):c.983+19G>A
NM_018127.7(ELAC2):c.984-15C>T
NM_018127.7(ELAC2):c.984-2A>G
NM_018127.7(ELAC2):c.984-3del
NM_018127.7(ELAC2):c.984-4C>T rs1375270986
NM_018127.7(ELAC2):c.984-5C>T rs752324594
NM_018127.7(ELAC2):c.984-8C>A rs2143613374
NM_018127.7(ELAC2):c.996G>A (p.Lys332=)
NM_018127.7(ELAC2):c.997G>A (p.Ala333Thr) rs2143613231
NM_018127.7(ELAC2):c.998C>T (p.Ala333Val)
NM_018127.7(ELAC2):c.9G>T (p.Ala3=)
NM_024537.3(CARS2):c.1194del 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.107G>C (p.Gly36Ala) rs1271844931
NM_024537.4(CARS2):c.107G>T (p.Gly36Val)
NM_024537.4(CARS2):c.1086A>G (p.Gln362=) rs551971117
NM_024537.4(CARS2):c.108G>A (p.Gly36=)
NM_024537.4(CARS2):c.108G>C (p.Gly36=)
NM_024537.4(CARS2):c.10A>G (p.Thr4Ala) rs1037184355
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.112C>T (p.Arg38Cys) rs776199362
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.115G>T (p.Gly39Trp) rs1330266756
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.117G>T (p.Gly39=) rs1324528918
NM_024537.4(CARS2):c.118C>A (p.Arg40=) rs1426766304
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.122C>A (p.Ala41Asp)
NM_024537.4(CARS2):c.1230G>A (p.Leu410=)
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.12_33dup (p.Pro12fs) rs1415686449
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.133C>A (p.Pro45Thr)
NM_024537.4(CARS2):c.1356C>T (p.Ala452=) rs2139674418
NM_024537.4(CARS2):c.1358T>C (p.Ile453Thr)
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.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.141C>T (p.Gly47=) rs749408803
NM_024537.4(CARS2):c.1420G>A (p.Val474Ile) rs774709224
NM_024537.4(CARS2):c.1426G>A (p.Gly476Arg)
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.143G>T (p.Arg48Leu)
NM_024537.4(CARS2):c.144G>A (p.Arg48=) rs2139947251
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.149C>T (p.Thr50Met) rs756212584
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.155T>G (p.Val52Gly) rs1566366322
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.160G>T (p.Val54Leu)
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.164A>G (p.Tyr55Cys)
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.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.19G>A (p.Gly7Ser)
NM_024537.4(CARS2):c.1A>G (p.Met1Val) rs1456556476
NM_024537.4(CARS2):c.1A>T (p.Met1Leu) rs1456556476
NM_024537.4(CARS2):c.200T>C (p.Val67Ala) rs1566366122
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.24A>T (p.Pro8=) rs1398511016
NM_024537.4(CARS2):c.24_35del (p.Gly9_Pro12del)
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.25G>C (p.Gly9Arg) rs1465681823
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.27C>T (p.Gly9=) rs1270397975
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.29T>C (p.Leu10Pro) rs1326381296
NM_024537.4(CARS2):c.2T>C (p.Met1Thr) rs774110184
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.30G>C (p.Leu10=)
NM_024537.4(CARS2):c.31G>T (p.Gly11Cys)
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.33C>T (p.Gly11=) rs907423199
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.37C>T (p.Pro13Ser)
NM_024537.4(CARS2):c.383G>C (p.Arg128Thr) rs1368783369
NM_024537.4(CARS2):c.38C>T (p.Pro13Leu) rs948688494
NM_024537.4(CARS2):c.38del (p.Pro13fs) rs1412483498
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.3G>T (p.Met1Ile) rs2139948769
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+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.48G>A (p.Gln16=) rs2139948147
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.53C>T (p.Ala18Val)
NM_024537.4(CARS2):c.542C>T (p.Ala181Val) rs1443254892
NM_024537.4(CARS2):c.55C>T (p.Leu19=)
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.57G>A (p.Leu19=) rs2139948102
NM_024537.4(CARS2):c.5T>G (p.Leu2Trp) rs2063949254
NM_024537.4(CARS2):c.606C>T (p.Asp202=)
NM_024537.4(CARS2):c.60C>G (p.Gly20=)
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.66G>C (p.Gly22=)
NM_024537.4(CARS2):c.670C>T (p.Arg224Cys) rs1323009856
NM_024537.4(CARS2):c.676G>T (p.Ala226Ser)
NM_024537.4(CARS2):c.68_71dup (p.His27fs)
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.85C>T (p.Pro29Ser) rs934745570
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.96G>A (p.Arg32=)
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.98C>G (p.Ala33Gly) rs1566366752
NM_024537.4(CARS2):c.98C>T (p.Ala33Val) rs1566366752
NM_024537.4(CARS2):c.991T>G (p.Phe331Val) rs2139700565
NM_024537.4(CARS2):c.997A>G (p.Lys333Glu) rs2062198993
NM_152269.5(MTRFR):c.104_105delinsAT (p.Gly35Asp) rs2138792679
NM_152269.5(MTRFR):c.123C>A (p.Val41=)
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
NM_152269.5(MTRFR):c.136A>G (p.Lys46Glu) rs2138792797
NM_152269.5(MTRFR):c.136AAG[1] (p.Lys47del)
NM_152269.5(MTRFR):c.153A>G (p.Ala51=)
NM_152269.5(MTRFR):c.160T>C (p.Ser54Pro)
NM_152269.5(MTRFR):c.166G>C (p.Asp56His)
NM_152269.5(MTRFR):c.191T>C (p.Phe64Ser)
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
NM_152269.5(MTRFR):c.194T>C (p.Val65Ala) rs2138793021
NM_152269.5(MTRFR):c.204C>T (p.His68=)
NM_152269.5(MTRFR):c.229A>G (p.Lys77Glu)
NM_152269.5(MTRFR):c.22C>G (p.His8Asp)
NM_152269.5(MTRFR):c.234C>A (p.Thr78=) rs140942886
NM_152269.5(MTRFR):c.246G>A (p.Val82=) rs1593287730
NM_152269.5(MTRFR):c.256C>G (p.His86Asp)
NM_152269.5(MTRFR):c.257A>T (p.His86Leu) rs1565998038
NM_152269.5(MTRFR):c.258C>T (p.His86=)
NM_152269.5(MTRFR):c.267A>G (p.Ser89=)
NM_152269.5(MTRFR):c.269G>A (p.Gly90Asp)
NM_152269.5(MTRFR):c.26T>C (p.Phe9Ser)
NM_152269.5(MTRFR):c.274G>A (p.Val92Ile) rs781746861
NM_152269.5(MTRFR):c.282+15G>A
NM_152269.5(MTRFR):c.282+18G>A
NM_152269.5(MTRFR):c.283-10T>C
NM_152269.5(MTRFR):c.283-12_283-10del
NM_152269.5(MTRFR):c.283-13T>C
NM_152269.5(MTRFR):c.283-7_283-6del
NM_152269.5(MTRFR):c.283-8T>G
NM_152269.5(MTRFR):c.303T>C (p.Val101=) rs2048186948
NM_152269.5(MTRFR):c.307del (p.Gln103fs) rs2048187051
NM_152269.5(MTRFR):c.33dup (p.Pro12fs) rs2048143498
NM_152269.5(MTRFR):c.346G>A (p.Val116Ile)
NM_152269.5(MTRFR):c.347T>G (p.Val116Gly)
NM_152269.5(MTRFR):c.355T>C (p.Phe119Leu)
NM_152269.5(MTRFR):c.357C>T (p.Phe119=)
NM_152269.5(MTRFR):c.361A>G (p.Asn121Asp) rs1473803862
NM_152269.5(MTRFR):c.364G>A (p.Gly122Ser)
NM_152269.5(MTRFR):c.371_373del (p.Asn124del) rs1195098928
NM_152269.5(MTRFR):c.372C>T (p.Asn124=)
NM_152269.5(MTRFR):c.389A>C (p.Glu130Ala)
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter) rs2138800520
NM_152269.5(MTRFR):c.410A>G (p.Lys137Arg)
NM_152269.5(MTRFR):c.419A>G (p.Glu140Gly) rs1255911546
NM_152269.5(MTRFR):c.41C>T (p.Thr14Ile)
NM_152269.5(MTRFR):c.423G>A (p.Arg141=)
NM_152269.5(MTRFR):c.426A>G (p.Lys142=)
NM_152269.5(MTRFR):c.430_432del (p.Arg144del)
NM_152269.5(MTRFR):c.431G>A (p.Arg144Lys)
NM_152269.5(MTRFR):c.450A>G (p.Glu150=)
NM_152269.5(MTRFR):c.455A>G (p.Lys152Arg)
NM_152269.5(MTRFR):c.462A>T (p.Leu154=) rs1465610404
NM_152269.5(MTRFR):c.486T>A (p.Ser162Arg) rs371852394
NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg) rs371852394
NM_152269.5(MTRFR):c.53C>T (p.Pro18Leu) rs930288422
NM_152269.5(MTRFR):c.71G>T (p.Arg24Leu) rs144150548
NM_152269.5(MTRFR):c.93G>A (p.Leu31=)
NM_152269.5(MTRFR):c.99C>T (p.Ser33=) rs2138792659
NM_152269.5(MTRFR):c.9C>T (p.Thr3=)

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