ClinVar Miner

List of variants reported as likely benign for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1226
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HGVS dbSNP gnomAD frequency
NM_152269.5(MTRFR):c.*354G>A rs11057214 0.05128
NM_152269.5(MTRFR):c.*454A>C rs76029248 0.04557
NM_152269.5(MTRFR):c.*128C>A rs11554169 0.04556
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_003321.4(TUFM):c.-132G>A rs112029765 0.02019
NM_024996.7(GFM1):c.*483_*484insTA rs10662631 0.01750
NM_024996.7(GFM1):c.-11C>T rs112860155 0.01649
NM_022915.5(MRPL44):c.827+18C>T rs58911111 0.01453
NM_001083614.2(EARS2):c.*1327A>G rs72776116 0.01372
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) rs115815965 0.01205
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln) rs34530313 0.01004
NM_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00823
NM_032380.5(GFM2):c.43A>G (p.Ile15Val) rs79992455 0.00818
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_024996.7(GFM1):c.2071-17A>G rs76679758 0.00671
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00653
NM_012473.4(TXN2):c.294G>A (p.Pro98=) rs150502647 0.00588
NM_024996.7(GFM1):c.*539C>T rs75254073 0.00563
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_005035.4(POLRMT):c.3165C>T (p.Thr1055=) rs149476145 0.00500
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_001083614.2(EARS2):c.*555G>A rs190982783 0.00465
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_003321.5(TUFM):c.684+6C>T rs188421321 0.00419
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) rs114754676 0.00399
NM_005035.4(POLRMT):c.178G>A (p.Val60Met) rs139758373 0.00386
NM_001083614.2(EARS2):c.*458C>T rs145856944 0.00379
NM_020191.4(MRPS22):c.741C>G (p.His247Gln) rs140631494 0.00357
NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln) rs150973108 0.00340
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_005726.6(TSFM):c.232-19T>G rs112348190 0.00291
NM_012123.4(MTO1):c.1051A>G (p.Met351Val) rs144075994 0.00261
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_012123.4(MTO1):c.620C>T (p.Thr207Met) rs139334277 0.00255
NM_020745.4(AARS2):c.1398C>T (p.Ser466=) rs146711725 0.00249
NM_020745.4(AARS2):c.*1007A>G rs538721769 0.00229
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386 0.00210
NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser) rs146326033 0.00200
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala) rs145043138 0.00200
NM_020810.3(TRMT5):c.70A>G (p.Ile24Val) rs115407315 0.00199
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_024996.7(GFM1):c.960A>C (p.Pro320=) rs145970222 0.00196
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) rs147091256 0.00185
NM_001083614.2(EARS2):c.1317G>A (p.Ser439=) rs74014932 0.00173
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr) rs147216443 0.00166
NM_001083614.2(EARS2):c.813C>T (p.Phe271=) rs149664520 0.00162
NM_003321.5(TUFM):c.520-13C>G rs115691896 0.00158
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_001136193.2(FASTKD2):c.777+18T>C rs200187845 0.00155
NM_012123.4(MTO1):c.1549G>A (p.Val517Met) rs139608228 0.00155
NM_001083614.2(EARS2):c.*91C>T rs141499212 0.00148
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_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116
NM_017909.4(RMND1):c.1209T>C (p.Asn403=) rs75177593 0.00108
NM_024996.7(GFM1):c.2070+11T>G rs150000838 0.00100
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00094
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_012123.4(MTO1):c.1082T>C (p.Met361Thr) rs145658455 0.00086
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) rs146951325 0.00080
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_017909.4(RMND1):c.1167G>A (p.Thr389=) rs116201484 0.00071
NM_005932.4(MIPEP):c.1728+7A>G rs186873433 0.00064
NM_024537.4(CARS2):c.465+14C>T rs41315944 0.00061
NM_019116.1(UBFD1):c.307G>C (p.Ala103Pro) rs371224231 0.00058
NM_006567.5(FARS2):c.1128C>T (p.Tyr376=) rs139204875 0.00057
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_018127.7(ELAC2):c.159C>T (p.Gly53=) rs200251607 0.00045
NM_018127.7(ELAC2):c.1218+16G>A rs201351764 0.00044
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_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330 0.00035
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.571+11T>C rs373960867 0.00031
NM_152269.5(MTRFR):c.54G>A (p.Pro18=) rs188310109 0.00031
NM_001136193.2(FASTKD2):c.192T>C (p.Phe64=) rs150457139 0.00029
NM_006567.5(FARS2):c.101C>T (p.Ser34Leu) rs148568494 0.00029
NM_024996.7(GFM1):c.1102T>C (p.Leu368=) rs142843314 0.00029
NM_145691.4(ATPAF2):c.-107G>A rs371822840 0.00029
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_018127.7(ELAC2):c.1390A>T (p.Arg464Trp) rs200149324 0.00026
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 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_006567.5(FARS2):c.509C>G (p.Ala170Gly) rs141568455 0.00023
NM_018127.7(ELAC2):c.2409G>A (p.Leu803=) rs201700166 0.00022
NM_001136193.2(FASTKD2):c.1693C>T (p.Leu565=) rs148971447 0.00021
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_004208.4(AIFM1):c.1644G>A (p.Pro548=) rs150821143 0.00020
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) rs200139797 0.00019
NM_001136193.2(FASTKD2):c.756G>A (p.Gln252=) rs377619612 0.00019
NM_005726.6(TSFM):c.726G>A (p.Thr242=) rs140461538 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.324G>A (p.Pro108=) rs139618748 0.00017
NM_012123.4(MTO1):c.1137T>C (p.Gly379=) rs141477592 0.00016
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe) rs140665334 0.00016
NM_024537.4(CARS2):c.741A>T (p.Gly247=) rs998783511 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_001136193.2(FASTKD2):c.1255-7T>C rs757255885 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.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_020745.4(AARS2):c.1661G>A (p.Arg554His) rs139280416 0.00014
NM_024537.4(CARS2):c.1566G>A (p.Leu522=) rs377120724 0.00014
NM_001136193.2(FASTKD2):c.207A>G (p.Gln69=) rs144137525 0.00013
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183 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.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_001136193.2(FASTKD2):c.1080T>C (p.Leu360=) rs376045225 0.00011
NM_012123.4(MTO1):c.1667T>C (p.Val556Ala) rs185347132 0.00011
NM_012123.4(MTO1):c.939-13T>C rs371809371 0.00011
NM_017909.4(RMND1):c.690-20C>G rs770275231 0.00011
NM_018127.7(ELAC2):c.351T>C (p.Asn117=) rs146877290 0.00011
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_152269.5(MTRFR):c.120G>A (p.Pro40=) rs377142152 0.00011
NM_001136193.2(FASTKD2):c.2014-18T>C rs749657627 0.00010
NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) rs772308346 0.00010
NM_006567.5(FARS2):c.781A>G (p.Ile261Val) rs201927340 0.00010
NM_018127.7(ELAC2):c.1423+13C>T rs552514338 0.00010
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_004208.4(AIFM1):c.366A>G (p.Glu122=) rs756883753 0.00009
NM_017909.4(RMND1):c.614-18G>A rs764159292 0.00009
NM_018127.7(ELAC2):c.156C>T (p.Ser52=) rs375941310 0.00009
NM_024537.4(CARS2):c.1194-17C>G rs377292484 0.00009
NM_024996.7(GFM1):c.1368G>A (p.Lys456=) rs774280744 0.00009
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_001083614.2(EARS2):c.246C>T (p.Arg82=) rs531061994 0.00007
NM_001136193.2(FASTKD2):c.2124C>T (p.Ser708=) rs200616436 0.00007
NM_006567.5(FARS2):c.1209A>G (p.Val403=) rs147628137 0.00007
NM_012123.4(MTO1):c.418-6T>C rs752852300 0.00007
NM_018127.7(ELAC2):c.666A>G (p.Pro222=) rs772199691 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.753G>A (p.Pro251=) rs149601283 0.00007
NM_001136193.2(FASTKD2):c.1115-10A>G rs747618392 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_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.429G>A (p.Leu143=) rs763318672 0.00006
NM_018127.7(ELAC2):c.1350G>A (p.Ala450=) rs375565327 0.00006
NM_018127.7(ELAC2):c.1880C>T (p.Ser627Leu) rs78105154 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_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.136A>G (p.Thr46Ala) rs771202761 0.00006
NM_024537.4(CARS2):c.1524G>A (p.Thr508=) rs372410471 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_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.954G>A (p.Arg318=) rs764877564 0.00005
NM_006567.5(FARS2):c.984T>C (p.Asp328=) rs201390927 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.715C>T (p.Leu239=) rs377338076 0.00005
NM_018127.7(ELAC2):c.738+17G>A rs761089421 0.00005
NM_018127.7(ELAC2):c.983+9G>A rs760385942 0.00005
NM_024537.4(CARS2):c.1266C>T (p.Ala422=) rs773655449 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.465+16G>A rs371021982 0.00005
NM_024537.4(CARS2):c.657G>A (p.Ala219=) rs375938059 0.00005
NM_005726.6(TSFM):c.885C>T (p.Thr295=) rs750718644 0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 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_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.552A>G (p.Val184=) rs746213747 0.00004
NM_017909.4(RMND1):c.1077A>G (p.Leu359=) rs766598526 0.00004
NM_018127.7(ELAC2):c.1424-17C>T rs755064409 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.2109-9C>T rs770917844 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.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.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.1647G>A (p.Thr549=) rs201728933 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_005726.6(TSFM):c.10C>T (p.Leu4=) rs765871977 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
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.444G>T (p.Arg148=) rs548957605 0.00003
NM_012123.4(MTO1):c.1902T>C (p.Phe634=) rs567020916 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.693G>T (p.Val231=) rs558715877 0.00003
NM_018127.7(ELAC2):c.1079+13G>C rs200797227 0.00003
NM_018127.7(ELAC2):c.1423+8G>A rs763673924 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.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.559+17G>C rs765765916 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.1055-7T>C rs775563211 0.00003
NM_024537.4(CARS2):c.1431C>T (p.Asp477=) rs771193928 0.00003
NM_024537.4(CARS2):c.1437C>T (p.Ser479=) rs756303536 0.00003
NM_024537.4(CARS2):c.1446C>G (p.Thr482=) rs372084282 0.00003
NM_024537.4(CARS2):c.1530C>T (p.Asp510=) rs539168705 0.00003
NM_024537.4(CARS2):c.33C>A (p.Gly11=) rs907423199 0.00003
NM_024537.4(CARS2):c.528T>C (p.Ile176=) rs759194567 0.00003
NM_024537.4(CARS2):c.988-10G>A rs568891064 0.00003
NM_001136193.2(FASTKD2):c.1698G>A (p.Pro566=) rs151258385 0.00002
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.213C>T (p.Leu71=) rs748813583 0.00002
NM_006567.5(FARS2):c.21G>T (p.Arg7Ser) rs764390927 0.00002
NM_006567.5(FARS2):c.408C>T (p.Pro136=) rs917396515 0.00002
NM_006567.5(FARS2):c.495C>T (p.His165=) rs761573935 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.612+12G>A rs186634574 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.1129+13A>G rs199879600 0.00002
NM_012123.4(MTO1):c.1260+17T>G rs780859448 0.00002
NM_012123.4(MTO1):c.1335T>C (p.Gly445=) rs539098813 0.00002
NM_012123.4(MTO1):c.1650T>C (p.Val550=) rs755205490 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.339A>G (p.Val113=) rs776394925 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.144G>A (p.Pro48=) rs1231034298 0.00002
NM_018127.7(ELAC2):c.1617G>C (p.Leu539=) rs539598982 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.2109-17C>G rs1053943347 0.00002
NM_018127.7(ELAC2):c.2226A>G (p.Lys742=) rs773995732 0.00002
NM_018127.7(ELAC2):c.2418G>C (p.Gly806=) rs144228112 0.00002
NM_018127.7(ELAC2):c.245+19C>A rs1037457378 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.797+9G>T rs762820869 0.00002
NM_018127.7(ELAC2):c.798-13C>G rs371733501 0.00002
NM_018127.7(ELAC2):c.983+14T>A rs758970515 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.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.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.537C>T (p.Ile179=) rs142925085 0.00002
NM_024537.4(CARS2):c.656-16C>T rs755708345 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_152269.5(MTRFR):c.282+17C>T rs1197939863 0.00002
NM_152269.5(MTRFR):c.405G>A (p.Ala135=) rs941522491 0.00002
NM_001083614.2(EARS2):c.*2105C>G rs550393372 0.00001
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
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.1066-12_1066-11del rs1424235482 0.00001
NM_006567.5(FARS2):c.1083G>A (p.Pro361=) rs762103254 0.00001
NM_006567.5(FARS2):c.120G>A (p.Glu40=) rs761074033 0.00001
NM_006567.5(FARS2):c.1251G>A (p.Thr417=) rs189168256 0.00001
NM_006567.5(FARS2):c.1296C>T (p.His432=) rs1261704455 0.00001
NM_006567.5(FARS2):c.1308C>G (p.Ala436=) rs965780712 0.00001
NM_006567.5(FARS2):c.160C>T (p.Leu54=) rs1380230371 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.372G>A (p.Gln124=) rs566589950 0.00001
NM_006567.5(FARS2):c.375C>T (p.Asn125=) rs1173641601 0.00001
NM_006567.5(FARS2):c.549C>T (p.Ile183=) rs776506015 0.00001
NM_006567.5(FARS2):c.6G>A (p.Val2=) rs772379847 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.774G>A (p.Glu258=) rs1274777348 0.00001
NM_006567.5(FARS2):c.786A>G (p.Arg262=) rs1763132563 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.957A>G (p.Leu319=) rs1015994762 0.00001
NM_006567.5(FARS2):c.972C>T (p.Tyr324=) rs150789146 0.00001
NM_006567.5(FARS2):c.993C>G (p.Leu331=) rs370814907 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.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.1261-9C>T rs1771508479 0.00001
NM_012123.4(MTO1):c.1272C>T (p.Ala424=) rs184320231 0.00001
NM_012123.4(MTO1):c.1284C>T (p.Ala428=) rs1771510990 0.00001
NM_012123.4(MTO1):c.1389C>T (p.Tyr463=) rs747803452 0.00001
NM_012123.4(MTO1):c.1401C>T (p.Thr467=) rs761354670 0.00001
NM_012123.4(MTO1):c.1466-11C>T rs1177539865 0.00001
NM_012123.4(MTO1):c.1515T>C (p.Cys505=) rs986939142 0.00001
NM_012123.4(MTO1):c.1599A>G (p.Pro533=) rs1167772743 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.187C>G (p.Leu63Val) rs371275324 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.2004G>A (p.Gln668=) rs1274349883 0.00001
NM_012123.4(MTO1):c.2007G>A (p.Ser669=) rs760282169 0.00001
NM_012123.4(MTO1):c.2064A>G (p.Gln688=) rs372208655 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.405A>G (p.Lys135=) rs1170291540 0.00001
NM_012123.4(MTO1):c.621G>A (p.Thr207=) rs763650850 0.00001
NM_012123.4(MTO1):c.768T>C (p.His256=) rs781712108 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.939-7A>T rs769685212 0.00001
NM_012123.4(MTO1):c.96C>T (p.Pro32=) rs938648582 0.00001
NM_017909.4(RMND1):c.201C>A (p.Ile67=) rs182333944 0.00001
NM_017909.4(RMND1):c.501C>T (p.Asn167=) rs374790732 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.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.127C>A (p.Arg43=) rs1598280966 0.00001
NM_018127.7(ELAC2):c.1305-10C>T rs771858858 0.00001
NM_018127.7(ELAC2):c.132G>A (p.Glu44=) rs933215096 0.00001
NM_018127.7(ELAC2):c.1476C>T (p.Ile492=) rs766476173 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.1608G>A (p.Leu536=) rs773774169 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.178C>T (p.Leu60=) rs1266677255 0.00001
NM_018127.7(ELAC2):c.1808+15C>T rs930358086 0.00001
NM_018127.7(ELAC2):c.2007C>G (p.Pro669=) rs780790017 0.00001
NM_018127.7(ELAC2):c.2017C>T (p.Leu673=) rs200759780 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.2112A>G (p.Thr704=) rs998359804 0.00001
NM_018127.7(ELAC2):c.2118C>G (p.Ser706=) rs752923351 0.00001
NM_018127.7(ELAC2):c.2148C>T (p.Asn716=) rs759078534 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.2295C>G (p.Pro765=) rs371543722 0.00001
NM_018127.7(ELAC2):c.22C>T (p.Leu8=) rs754652199 0.00001
NM_018127.7(ELAC2):c.2370G>A (p.Val790=) rs143840985 0.00001
NM_018127.7(ELAC2):c.245+17C>A rs754772263 0.00001
NM_018127.7(ELAC2):c.24G>A (p.Leu8=) rs1598281471 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.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.432+15A>C rs754403836 0.00001
NM_018127.7(ELAC2):c.432+18C>T rs779908196 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.537A>C (p.Thr179=) rs755930395 0.00001
NM_018127.7(ELAC2):c.559+16A>G rs1449825249 0.00001
NM_018127.7(ELAC2):c.582C>T (p.His194=) rs764486912 0.00001
NM_018127.7(ELAC2):c.651G>A (p.Ser217=) rs201530031 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.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.984-18C>A rs1382193290 0.00001
NM_024537.4(CARS2):c.1008C>T (p.Ser336=) rs1313306865 0.00001
NM_024537.4(CARS2):c.1054+7C>T rs369116566 0.00001
NM_024537.4(CARS2):c.1065C>T (p.Tyr355=) rs568277703 0.00001
NM_024537.4(CARS2):c.1101C>T (p.Leu367=) rs527311442 0.00001
NM_024537.4(CARS2):c.1161C>T (p.Cys387=) rs772515282 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.1206C>T (p.Thr402=) rs556643017 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.1257G>A (p.Val419=) rs774758878 0.00001
NM_024537.4(CARS2):c.1278T>G (p.Leu426=) rs1213717785 0.00001
NM_024537.4(CARS2):c.1318-17G>A rs182585150 0.00001
NM_024537.4(CARS2):c.1332G>A (p.Pro444=) rs745916376 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.1452T>C (p.His484=) rs750129111 0.00001
NM_024537.4(CARS2):c.1473G>A (p.Val491=) rs774705663 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.1581C>T (p.Asp527=) rs201472735 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+9C>T rs1302154832 0.00001
NM_024537.4(CARS2):c.1659G>A (p.Leu553=) rs1474595916 0.00001
NM_024537.4(CARS2):c.174C>T (p.Leu58=) rs751387497 0.00001
NM_024537.4(CARS2):c.225-19A>C rs45518835 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.408C>T (p.Pro136=) rs755243580 0.00001
NM_024537.4(CARS2):c.42G>T (p.Leu14=) rs1010589821 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.498C>G (p.Thr166=) rs757335344 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.573C>T (p.Gly191=) rs1223141816 0.00001
NM_024537.4(CARS2):c.624C>T (p.Val208=) rs768173954 0.00001
NM_024537.4(CARS2):c.633C>T (p.Val211=) rs769981233 0.00001
NM_024537.4(CARS2):c.645C>T (p.Val215=) rs776642452 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.684C>T (p.Asp228=) rs537075451 0.00001
NM_024537.4(CARS2):c.687C>T (p.Phe229=) rs775389111 0.00001
NM_024537.4(CARS2):c.702G>A (p.Ala234=) rs143818816 0.00001
NM_024537.4(CARS2):c.786-4G>A rs755159239 0.00001
NM_024537.4(CARS2):c.798A>G (p.Gly266=) rs1032327144 0.00001
NM_024537.4(CARS2):c.867G>A (p.Gln289=) rs1446340847 0.00001
NM_024537.4(CARS2):c.888C>T (p.Cys296=) rs780225759 0.00001
NM_024537.4(CARS2):c.919+7A>G rs376314240 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_024996.7(GFM1):c.1830C>T (p.Val610=) rs139680551 0.00001
NM_024996.7(GFM1):c.2016T>C (p.His672=) rs755853174 0.00001
NM_152269.5(MTRFR):c.276T>C (p.Val92=) rs907535491 0.00001
NM_152269.5(MTRFR):c.333C>A (p.Ile111=) rs769551356 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
NM_001083614.2(EARS2):c.*15G>C rs200936622
NM_001083614.2(EARS2):c.*383GA[1] rs200036419
NM_001136193.2(FASTKD2):c.1427+20dup rs371981683
NM_001136193.2(FASTKD2):c.2014-12_2014-11del rs770341016
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
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.1057A>C (p.Lys353Gln) rs762302341
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>G rs769574194
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.108T>C (p.Pro36=)
NM_006567.5(FARS2):c.1092C>T (p.Ile364=)
NM_006567.5(FARS2):c.1116C>T (p.Pro372=) rs2150673615
NM_006567.5(FARS2):c.1200C>T (p.Asp400=) rs2150673934
NM_006567.5(FARS2):c.1218-5T>C rs1014916887
NM_006567.5(FARS2):c.1218-7T>C rs2150990567
NM_006567.5(FARS2):c.1267C>A (p.Arg423=)
NM_006567.5(FARS2):c.1269G>T (p.Arg423=) rs758019336
NM_006567.5(FARS2):c.126C>T (p.Ala42=)
NM_006567.5(FARS2):c.1293G>A (p.Arg431=) rs749743875
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.141A>G (p.Pro47=)
NM_006567.5(FARS2):c.150G>A (p.Val50=) rs1448847094
NM_006567.5(FARS2):c.201C>G (p.Thr67=) rs1357700939
NM_006567.5(FARS2):c.204G>C (p.Arg68=)
NM_006567.5(FARS2):c.207G>A (p.Lys69=)
NM_006567.5(FARS2):c.231C>T (p.Asn77=) rs777130213
NM_006567.5(FARS2):c.234G>T (p.Leu78=)
NM_006567.5(FARS2):c.262C>T (p.Leu88=)
NM_006567.5(FARS2):c.294C>T (p.Tyr98=)
NM_006567.5(FARS2):c.300G>A (p.Gln100=)
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.378T>C (p.Phe126=) rs2127643700
NM_006567.5(FARS2):c.390C>A (p.Leu130=) rs767424737
NM_006567.5(FARS2):c.450C>T (p.His150=) rs2127643912
NM_006567.5(FARS2):c.474A>T (p.Ala158=)
NM_006567.5(FARS2):c.486C>T (p.Asp162=)
NM_006567.5(FARS2):c.492G>A (p.Leu164=) rs374120685
NM_006567.5(FARS2):c.498G>A (p.Ala166=)
NM_006567.5(FARS2):c.513C>T (p.Phe171=)
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.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.613-11T>C rs1562015282
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.613-4A>G rs1554181180
NM_006567.5(FARS2):c.613-9G>C
NM_006567.5(FARS2):c.651C>G (p.Leu217=)
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+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.804C>T (p.Phe268=)
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>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.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+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.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.955C>T (p.Leu319=) rs772822506
NM_012123.4(MTO1):c.1002G>A (p.Leu334=) rs2150035828
NM_012123.4(MTO1):c.1044G>A (p.Gly348=)
NM_012123.4(MTO1):c.1047A>G (p.Leu349=)
NM_012123.4(MTO1):c.105G>A (p.Pro35=)
NM_012123.4(MTO1):c.1062A>C (p.Pro354=) rs1060504378
NM_012123.4(MTO1):c.1089A>C (p.Thr363=)
NM_012123.4(MTO1):c.1104G>A (p.Leu368=)
NM_012123.4(MTO1):c.1107G>A (p.Glu369=)
NM_012123.4(MTO1):c.111C>T (p.Phe37=)
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.114C>T (p.Asp38=)
NM_012123.4(MTO1):c.1170C>T (p.Ile390=)
NM_012123.4(MTO1):c.123C>G (p.Val41=)
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>T
NM_012123.4(MTO1):c.1261-18A>G
NM_012123.4(MTO1):c.1261-4G>C
NM_012123.4(MTO1):c.1287T>C (p.Ser429=)
NM_012123.4(MTO1):c.1290T>C (p.Leu430=) rs148227552
NM_012123.4(MTO1):c.1293G>A (p.Arg431=)
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.1347C>G (p.Val449=)
NM_012123.4(MTO1):c.1353T>C (p.Ile451=) rs557440944
NM_012123.4(MTO1):c.135A>G (p.Gly45=)
NM_012123.4(MTO1):c.1362C>T (p.Leu454=)
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.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.147T>C (p.Thr49=)
NM_012123.4(MTO1):c.1485T>C (p.Cys495=)
NM_012123.4(MTO1):c.1491C>T (p.Ser497=)
NM_012123.4(MTO1):c.1497A>G (p.Gln499=)
NM_012123.4(MTO1):c.1503T>C (p.Tyr501=)
NM_012123.4(MTO1):c.1512T>A (p.Ala504=)
NM_012123.4(MTO1):c.1548T>C (p.Ser516=)
NM_012123.4(MTO1):c.1566G>A (p.Glu522=)
NM_012123.4(MTO1):c.1570T>C (p.Leu524=)
NM_012123.4(MTO1):c.159C>G (p.Thr53=) rs761813265
NM_012123.4(MTO1):c.159C>T (p.Thr53=)
NM_012123.4(MTO1):c.1629G>T (p.Leu543=)
NM_012123.4(MTO1):c.1637+14A>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.1644C>G (p.Leu548=)
NM_012123.4(MTO1):c.1644C>T (p.Leu548=)
NM_012123.4(MTO1):c.165C>G (p.Ala55=)
NM_012123.4(MTO1):c.1680A>C (p.Ser560=) rs1215865193
NM_012123.4(MTO1):c.1680A>G (p.Ser560=)
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.1757-11T>C
NM_012123.4(MTO1):c.1757-14A>T
NM_012123.4(MTO1):c.1757-20A>T
NM_012123.4(MTO1):c.1815T>C (p.Asp605=)
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>T (p.Leu614=) rs2150044988
NM_012123.4(MTO1):c.1860G>A (p.Arg620=)
NM_012123.4(MTO1):c.1866G>C (p.Val622=)
NM_012123.4(MTO1):c.187C>T (p.Leu63=)
NM_012123.4(MTO1):c.1911A>C (p.Pro637=)
NM_012123.4(MTO1):c.1911A>G (p.Pro637=)
NM_012123.4(MTO1):c.1917+10T>C
NM_012123.4(MTO1):c.1917+11A>G rs2150045068
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>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.1986G>A (p.Lys662=)
NM_012123.4(MTO1):c.1989C>T (p.Thr663=)
NM_012123.4(MTO1):c.1999A>C (p.Arg667=)
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.240C>T (p.Ser80=)
NM_012123.4(MTO1):c.273G>A (p.Arg91=)
NM_012123.4(MTO1):c.276A>G (p.Glu92=) rs755181300
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.312T>C (p.Cys104=)
NM_012123.4(MTO1):c.33C>T (p.Val11=) rs1430945976
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.384G>A (p.Gln128=)
NM_012123.4(MTO1):c.390T>C (p.Asp130=)
NM_012123.4(MTO1):c.399C>G (p.Leu133=) rs994257546
NM_012123.4(MTO1):c.408G>A (p.Gln136=)
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.447T>G (p.Thr149=)
NM_012123.4(MTO1):c.453G>A (p.Gln151=)
NM_012123.4(MTO1):c.45C>T (p.Phe15=)
NM_012123.4(MTO1):c.535+17G>A
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.612A>C (p.Gly204=)
NM_012123.4(MTO1):c.613T>C (p.Leu205=) rs1464415140
NM_012123.4(MTO1):c.621G>T (p.Thr207=)
NM_012123.4(MTO1):c.630A>G (p.Ala210=) rs2150031442
NM_012123.4(MTO1):c.660A>G (p.Gly220=)
NM_012123.4(MTO1):c.666T>C (p.Ala222=)
NM_012123.4(MTO1):c.672A>G (p.Thr224=)
NM_012123.4(MTO1):c.681G>A (p.Lys227=) rs781586985
NM_012123.4(MTO1):c.708G>A (p.Lys236=)
NM_012123.4(MTO1):c.762C>T (p.Asn254=) rs1771216320
NM_012123.4(MTO1):c.774G>T (p.Pro258=) rs748667460
NM_012123.4(MTO1):c.783A>G (p.Pro261=)
NM_012123.4(MTO1):c.813A>G (p.Thr271=)
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.828A>G (p.Pro276=)
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.882T>A (p.Ile294=)
NM_012123.4(MTO1):c.924G>A (p.Thr308=) rs962712902
NM_012123.4(MTO1):c.938+20G>T
NM_012123.4(MTO1):c.939-10T>C
NM_012123.4(MTO1):c.939-10del rs1064794699
NM_012123.4(MTO1):c.93G>A (p.Ala31=)
NM_012123.4(MTO1):c.96C>G (p.Pro32=) rs938648582
NM_012123.4(MTO1):c.987A>G (p.Leu329=)
NM_012123.4(MTO1):c.9C>T (p.Tyr3=)
NM_018127.7(ELAC2):c.1011G>T (p.Val337=)
NM_018127.7(ELAC2):c.1014C>T (p.Ala338=) rs2143613110
NM_018127.7(ELAC2):c.102G>A (p.Lys34=)
NM_018127.7(ELAC2):c.1038A>T (p.Ala346=)
NM_018127.7(ELAC2):c.1053C>T (p.Asp351=)
NM_018127.7(ELAC2):c.1062C>T (p.Tyr354=)
NM_018127.7(ELAC2):c.1079+20G>A
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.1080-20C>A
NM_018127.7(ELAC2):c.1080-5C>T
NM_018127.7(ELAC2):c.1098G>A (p.Gln366=)
NM_018127.7(ELAC2):c.1119C>T (p.Asn373=)
NM_018127.7(ELAC2):c.1173C>T (p.Leu391=)
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.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.1212C>T (p.Arg404=) rs2143605832
NM_018127.7(ELAC2):c.1218+19C>T
NM_018127.7(ELAC2):c.1219-12T>C
NM_018127.7(ELAC2):c.1233C>T (p.Thr411=)
NM_018127.7(ELAC2):c.1242G>A (p.Val414=)
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.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.1305-8_1305-7insTC
NM_018127.7(ELAC2):c.1323C>T (p.Cys441=)
NM_018127.7(ELAC2):c.1377C>T (p.Ser459=) rs1337946720
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.1407C>T (p.Asp469=)
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.1424-5dup
NM_018127.7(ELAC2):c.1437G>A (p.Gln479=)
NM_018127.7(ELAC2):c.1440C>T (p.Tyr480=)
NM_018127.7(ELAC2):c.144G>T (p.Pro48=)
NM_018127.7(ELAC2):c.1452C>A (p.Ile484=)
NM_018127.7(ELAC2):c.1464A>G (p.Thr488=)
NM_018127.7(ELAC2):c.1479G>A (p.Pro493=) rs140335642
NM_018127.7(ELAC2):c.1520+7T>C
NM_018127.7(ELAC2):c.1520+9C>T
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>T (p.Thr520=)
NM_018127.7(ELAC2):c.156C>A (p.Ser52=)
NM_018127.7(ELAC2):c.159C>G (p.Gly53=)
NM_018127.7(ELAC2):c.1626G>A (p.Val542=)
NM_018127.7(ELAC2):c.162C>G (p.Gly54=) rs2143697041
NM_018127.7(ELAC2):c.1638C>T (p.His546=) rs1489337164
NM_018127.7(ELAC2):c.1641G>A (p.Leu547=) rs1598205310
NM_018127.7(ELAC2):c.1644C>T (p.His548=)
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+8T>C
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.1674C>T (p.Ile558=)
NM_018127.7(ELAC2):c.1678C>T (p.Leu560=)
NM_018127.7(ELAC2):c.1696T>C (p.Leu566=) rs2143563741
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.1713G>A (p.Lys571=)
NM_018127.7(ELAC2):c.1716G>T (p.Pro572=)
NM_018127.7(ELAC2):c.171C>G (p.Thr57=)
NM_018127.7(ELAC2):c.174G>C (p.Val58=)
NM_018127.7(ELAC2):c.1794C>T (p.Val598=)
NM_018127.7(ELAC2):c.1808+14del rs761236461
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.180G>C (p.Leu60=)
NM_018127.7(ELAC2):c.1845G>A (p.Glu615=)
NM_018127.7(ELAC2):c.1870T>C (p.Leu624=)
NM_018127.7(ELAC2):c.1884G>A (p.Leu628=) rs375891204
NM_018127.7(ELAC2):c.1908+16G>A rs773964699
NM_018127.7(ELAC2):c.1908+16G>T rs773964699
NM_018127.7(ELAC2):c.1908+20G>A
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.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.1935C>T (p.Cys645=)
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.1986C>T (p.Val662=) rs772271496
NM_018127.7(ELAC2):c.198T>C (p.Gly66=)
NM_018127.7(ELAC2):c.2010C>T (p.Cys670=) rs1598197387
NM_018127.7(ELAC2):c.2029+10G>A rs2143554371
NM_018127.7(ELAC2):c.2029+19A>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.2073T>C (p.Asp691=)
NM_018127.7(ELAC2):c.2085G>A (p.Glu695=)
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.2121A>G (p.Gln707=)
NM_018127.7(ELAC2):c.2142G>T (p.Arg714=) rs878855050
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.2184C>G (p.Arg728=) rs2143547737
NM_018127.7(ELAC2):c.2190C>T (p.Ala730=) rs2143547695
NM_018127.7(ELAC2):c.2223G>A (p.Glu741=)
NM_018127.7(ELAC2):c.222C>T (p.Leu74=)
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.2254-13T>C
NM_018127.7(ELAC2):c.2254-14A>G
NM_018127.7(ELAC2):c.2254-9G>C
NM_018127.7(ELAC2):c.2289G>C (p.Leu763=) rs141048290
NM_018127.7(ELAC2):c.2325C>T (p.Ile775=) rs775479429
NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)
NM_018127.7(ELAC2):c.234C>G (p.Ser78=)
NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)
NM_018127.7(ELAC2):c.2397G>A (p.Leu799=)
NM_018127.7(ELAC2):c.2412G>A (p.Glu804=) rs1165224986
NM_018127.7(ELAC2):c.2421G>A (p.Glu807=) rs2143539338
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.246-14T>C
NM_018127.7(ELAC2):c.246-18G>A
NM_018127.7(ELAC2):c.246-20G>C
NM_018127.7(ELAC2):c.246-7C>A
NM_018127.7(ELAC2):c.246-8T>C
NM_018127.7(ELAC2):c.2480G>A (p.Ter827=)
NM_018127.7(ELAC2):c.282C>T (p.Leu94=) rs2143692376
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.297-5del
NM_018127.7(ELAC2):c.297-8A>G
NM_018127.7(ELAC2):c.297-9C>A
NM_018127.7(ELAC2):c.30C>G (p.Ser10=)
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.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.402A>G (p.Pro134=)
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+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.444C>G (p.Leu148=)
NM_018127.7(ELAC2):c.447A>G (p.Glu149=) rs2143678294
NM_018127.7(ELAC2):c.465T>C (p.Ser155=)
NM_018127.7(ELAC2):c.490+11G>C
NM_018127.7(ELAC2):c.491-4G>T
NM_018127.7(ELAC2):c.491-5T>C rs2143670362
NM_018127.7(ELAC2):c.501C>G (p.Pro167=)
NM_018127.7(ELAC2):c.519C>T (p.Tyr173=) rs2143670005
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.560-6G>A rs2143661977
NM_018127.7(ELAC2):c.576A>G (p.Gly192=) rs1410606129
NM_018127.7(ELAC2):c.606G>A (p.Arg202=)
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.660T>C (p.Asn220=)
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.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.739-20C>G
NM_018127.7(ELAC2):c.75A>C (p.Ala25=)
NM_018127.7(ELAC2):c.792C>T (p.Leu264=)
NM_018127.7(ELAC2):c.797+16A>G rs895800256
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.828T>C (p.Ala276=)
NM_018127.7(ELAC2):c.855T>C (p.Thr285=)
NM_018127.7(ELAC2):c.858T>C (p.His286=)
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.897T>C (p.Pro299=)
NM_018127.7(ELAC2):c.900A>G (p.Pro300=) rs1567758616
NM_018127.7(ELAC2):c.921G>C (p.Val307=)
NM_018127.7(ELAC2):c.924G>C (p.Val308=) rs2143621668
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.984-3del
NM_018127.7(ELAC2):c.984-4C>T rs1375270986
NM_018127.7(ELAC2):c.984-5C>T rs752324594
NM_018127.7(ELAC2):c.996G>A (p.Lys332=)
NM_018127.7(ELAC2):c.9G>T (p.Ala3=)
NM_020408.6(LYRM4):c.-11_-10dup rs561083109
NM_020745.4(AARS2):c.1189-16_1189-14del rs144914586
NM_024537.4(CARS2):c.1008C>G (p.Ser336=)
NM_024537.4(CARS2):c.1041C>T (p.Ser347=) rs763055454
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.1059C>A (p.Ile353=)
NM_024537.4(CARS2):c.1068T>C (p.Ser356=)
NM_024537.4(CARS2):c.1071C>T (p.Asp357=) rs200826696
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.1104G>A (p.Leu368=)
NM_024537.4(CARS2):c.1140C>T (p.Tyr380=)
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.1193+16A>C rs2139683484
NM_024537.4(CARS2):c.1193+20C>A
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.1230G>A (p.Leu410=)
NM_024537.4(CARS2):c.1296A>G (p.Gly432=) rs1351991696
NM_024537.4(CARS2):c.1312C>T (p.Leu438=)
NM_024537.4(CARS2):c.1317+17G>A
NM_024537.4(CARS2):c.1318-18C>G
NM_024537.4(CARS2):c.1356C>T (p.Ala452=) rs2139674418
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.1416+10A>T rs1887805574
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.1419C>T (p.Tyr473=)
NM_024537.4(CARS2):c.141C>T (p.Gly47=) rs749408803
NM_024537.4(CARS2):c.144G>A (p.Arg48=) rs2139947251
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.1503G>T (p.Ala501=)
NM_024537.4(CARS2):c.1524G>C (p.Thr508=)
NM_024537.4(CARS2):c.1527G>A (p.Gly509=)
NM_024537.4(CARS2):c.1596C>T (p.Gly532=) rs2139666777
NM_024537.4(CARS2):c.1599G>A (p.Leu533=)
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+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.1624-7T>C
NM_024537.4(CARS2):c.1624-9C>T rs2139663645
NM_024537.4(CARS2):c.1635T>C (p.Ser545=) rs1284618994
NM_024537.4(CARS2):c.1644C>G (p.Ser548=) rs1456791733
NM_024537.4(CARS2):c.1662T>C (p.Asp554=)
NM_024537.4(CARS2):c.1683dup (p.Ser562fs) rs575601185
NM_024537.4(CARS2):c.193C>T (p.Leu65=)
NM_024537.4(CARS2):c.224+10G>A rs569593326
NM_024537.4(CARS2):c.224+10G>T rs569593326
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.243T>C (p.Thr81=)
NM_024537.4(CARS2):c.24A>T (p.Pro8=) rs1398511016
NM_024537.4(CARS2):c.255T>C (p.His85=)
NM_024537.4(CARS2):c.258G>C (p.Ala86=)
NM_024537.4(CARS2):c.270T>C (p.His90=) rs529804222
NM_024537.4(CARS2):c.275+12G>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.282T>C (p.Tyr94=)
NM_024537.4(CARS2):c.30G>C (p.Leu10=)
NM_024537.4(CARS2):c.33C>T (p.Gly11=) rs907423199
NM_024537.4(CARS2):c.354T>C (p.Ile118=)
NM_024537.4(CARS2):c.394-10C>A rs1294731262
NM_024537.4(CARS2):c.394-19A>G
NM_024537.4(CARS2):c.394-20C>A
NM_024537.4(CARS2):c.408C>G (p.Pro136=) rs755243580
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.466-8C>T
NM_024537.4(CARS2):c.498C>T (p.Thr166=)
NM_024537.4(CARS2):c.55C>T (p.Leu19=)
NM_024537.4(CARS2):c.564G>C (p.Thr188=) rs76988055
NM_024537.4(CARS2):c.571+10A>G
NM_024537.4(CARS2):c.571+12G>A
NM_024537.4(CARS2):c.572-15T>A rs2139840036
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.606C>T (p.Asp202=)
NM_024537.4(CARS2):c.60C>G (p.Gly20=)
NM_024537.4(CARS2):c.627C>T (p.Gly209=)
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.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.656-18A>C
NM_024537.4(CARS2):c.656-9C>T
NM_024537.4(CARS2):c.66G>C (p.Gly22=)
NM_024537.4(CARS2):c.717G>A (p.Glu239=)
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.783T>C (p.Ala261=)
NM_024537.4(CARS2):c.785+14C>T
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.786-6T>C rs1372358723
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.885G>A (p.Gln295=)
NM_024537.4(CARS2):c.894G>A (p.Gln298=)
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.921G>T (p.Gly307=)
NM_024537.4(CARS2):c.96G>A (p.Arg32=)
NM_024537.4(CARS2):c.987+19_987+23del
NM_024537.4(CARS2):c.987+20G>T rs747353959
NM_024537.4(CARS2):c.988-13C>G rs2062199603
NM_024537.4(CARS2):c.988-17G>C rs1212397461
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_024996.7(GFM1):c.*116C>T rs115593809
NM_024996.7(GFM1):c.*454_*456del rs367730845
NM_024996.7(GFM1):c.-73C>T rs116614958
NM_024996.7(GFM1):c.1308C>T (p.Asn436=) rs1187874654
NM_024996.7(GFM1):c.192A>G (p.Glu64=) rs1576720639
NM_024996.7(GFM1):c.498C>T (p.Asn166=) rs762364300
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_025150.5(TARS2):c.1719-17C>A rs201218331
NM_033109.5(PNPT1):c.1285-4del rs745754666
NM_152269.5(MTRFR):c.*696_*699del rs202152701
NM_152269.5(MTRFR):c.*711_*713del rs148010033
NM_152269.5(MTRFR):c.123C>A (p.Val41=)
NM_152269.5(MTRFR):c.153A>G (p.Ala51=)
NM_152269.5(MTRFR):c.204C>T (p.His68=)
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.258C>T (p.His86=)
NM_152269.5(MTRFR):c.267A>G (p.Ser89=)
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.357C>T (p.Phe119=)
NM_152269.5(MTRFR):c.372C>T (p.Asn124=)
NM_152269.5(MTRFR):c.423G>A (p.Arg141=)
NM_152269.5(MTRFR):c.426A>G (p.Lys142=)
NM_152269.5(MTRFR):c.450A>G (p.Glu150=)
NM_152269.5(MTRFR):c.462A>T (p.Leu154=) rs1465610404
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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