ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1436
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup) rs1555571246 0.00144
NM_024537.4(CARS2):c.574A>G (p.Asn192Asp) rs150286306 0.00081
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_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_012123.4(MTO1):c.1996C>T (p.Arg666Ter) rs200217371 0.00036
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.563C>T (p.Thr188Met) rs142034206 0.00030
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864 0.00028
NM_012123.4(MTO1):c.49A>G (p.Lys17Glu) rs145625396 0.00026
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val) rs149544601 0.00024
NM_024537.4(CARS2):c.1516G>A (p.Glu506Lys) rs368624802 0.00022
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.2375C>T (p.Ala792Val) rs767378629 0.00018
NM_006567.5(FARS2):c.323C>T (p.Pro108Leu) rs374957295 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.1268G>A (p.Arg423Gln) rs148921184 0.00016
NM_012123.4(MTO1):c.1940C>T (p.Pro647Leu) rs151330992 0.00016
NM_018127.7(ELAC2):c.632G>A (p.Arg211Gln) rs148419785 0.00016
NM_012123.4(MTO1):c.1147G>A (p.Asp383Asn) rs145163085 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_018127.7(ELAC2):c.1283G>A (p.Arg428His) rs376713626 0.00014
NM_152269.5(MTRFR):c.112G>A (p.Val38Ile) rs146534475 0.00014
NM_018127.7(ELAC2):c.1319C>T (p.Thr440Ile) rs373125478 0.00013
NM_024537.4(CARS2):c.628G>A (p.Val210Met) rs142962763 0.00013
NM_006567.5(FARS2):c.920G>A (p.Arg307Gln) rs771882917 0.00011
NM_012123.4(MTO1):c.868A>G (p.Arg290Gly) rs573039001 0.00011
NM_018127.7(ELAC2):c.395G>C (p.Gly132Ala) rs377463613 0.00011
NM_152269.5(MTRFR):c.56C>T (p.Ala19Val) rs140452371 0.00011
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_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.1069C>T (p.Leu357Phe) rs370983000 0.00009
NM_006567.5(FARS2):c.70T>A (p.Ser24Thr) rs573996374 0.00009
NM_018127.7(ELAC2):c.1705T>G (p.Leu569Val) rs375606970 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_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.1220C>T (p.Thr407Met) rs372054960 0.00007
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn) rs764427452 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_024537.4(CARS2):c.1195C>T (p.Leu399Phe) rs202176952 0.00007
NM_024537.4(CARS2):c.739G>A (p.Gly247Arg) rs372177940 0.00007
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) rs1175521163 0.00006
NM_006567.5(FARS2):c.1009G>A (p.Glu337Lys) rs779793214 0.00006
NM_006567.5(FARS2):c.882G>C (p.Met294Ile) rs886256686 0.00006
NM_012123.4(MTO1):c.307A>G (p.Ile103Val) rs574980280 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.1871T>C (p.Leu624Ser) rs1217149676 0.00006
NM_018127.7(ELAC2):c.1908+5G>A rs753540327 0.00006
NM_018127.7(ELAC2):c.394G>A (p.Gly132Arg) rs374005835 0.00006
NM_018127.7(ELAC2):c.98G>T (p.Arg33Leu) rs771550822 0.00006
NM_024537.4(CARS2):c.1259T>C (p.Val420Ala) rs146878400 0.00006
NM_024537.4(CARS2):c.1505T>C (p.Leu502Pro) rs763717023 0.00006
NM_024537.4(CARS2):c.1579G>A (p.Asp527Asn) rs150780076 0.00006
NM_024537.4(CARS2):c.1589G>A (p.Arg530His) rs760818887 0.00006
NM_152269.5(MTRFR):c.325C>T (p.Arg109Trp) rs372252104 0.00006
NM_004208.4(AIFM1):c.1156G>A (p.Gly386Ser) rs746155778 0.00005
NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln) rs766786579 0.00005
NM_006567.5(FARS2):c.202C>T (p.Arg68Trp) rs374531453 0.00005
NM_006567.5(FARS2):c.874G>A (p.Gly292Arg) rs747278433 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.560G>C (p.Ser187Thr) rs750475807 0.00005
NM_018127.7(ELAC2):c.814G>A (p.Ala272Thr) rs765353090 0.00005
NM_024537.4(CARS2):c.1013A>G (p.Asp338Gly) rs373398364 0.00005
NM_024537.4(CARS2):c.1432G>A (p.Gly478Ser) rs372734645 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_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) rs1057517852 0.00004
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.545A>G (p.Gln182Arg) rs543217289 0.00004
NM_006567.5(FARS2):c.674C>T (p.Ala225Val) rs745400923 0.00004
NM_006567.5(FARS2):c.754G>A (p.Ala252Thr) rs371390356 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.1222A>G (p.Ile408Val) rs149407452 0.00004
NM_012123.4(MTO1):c.1235C>T (p.Thr412Ile) rs943998709 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.1967A>G (p.Asn656Ser) rs759983774 0.00004
NM_012123.4(MTO1):c.253G>A (p.Gly85Arg) rs1054967842 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_012123.4(MTO1):c.97C>T (p.Arg33Trp) rs769059204 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.152G>T (p.Cys51Phe) rs777786097 0.00004
NM_018127.7(ELAC2):c.2275A>G (p.Thr759Ala) rs199998904 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_024537.4(CARS2):c.1194-3C>T rs372760421 0.00004
NM_024537.4(CARS2):c.1646C>T (p.Thr549Met) rs371625448 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_152269.5(MTRFR):c.181G>A (p.Glu61Lys) rs768652922 0.00004
NM_004208.4(AIFM1):c.110A>C (p.Asn37Thr) rs1353159825 0.00003
NM_004208.4(AIFM1):c.1681G>A (p.Gly561Ser) rs941734227 0.00003
NM_004208.4(AIFM1):c.29G>A (p.Gly10Asp) rs143831137 0.00003
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) rs773680831 0.00003
NM_006567.5(FARS2):c.1267C>T (p.Arg423Trp) rs145697325 0.00003
NM_006567.5(FARS2):c.310C>T (p.Arg104Cys) rs982485775 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.706G>A (p.Val236Met) rs369015058 0.00003
NM_006567.5(FARS2):c.730A>C (p.Lys244Gln) rs767530718 0.00003
NM_006567.5(FARS2):c.755C>G (p.Ala252Gly) rs1047260982 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.1957G>A (p.Ala653Thr) rs749086310 0.00003
NM_012123.4(MTO1):c.514C>T (p.Arg172Cys) rs370046018 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.1177C>T (p.His393Tyr) rs1404085657 0.00003
NM_018127.7(ELAC2):c.1181C>T (p.Pro394Leu) rs1347935204 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.1858G>A (p.Ala620Thr) rs960361937 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.445G>A (p.Glu149Lys) rs779607134 0.00003
NM_018127.7(ELAC2):c.46A>G (p.Met16Val) rs533396669 0.00003
NM_018127.7(ELAC2):c.659A>G (p.Asn220Ser) rs779111320 0.00003
NM_018127.7(ELAC2):c.856C>T (p.His286Tyr) rs1184764865 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.10A>T (p.Thr4Ser) rs1037184355 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.1623+1G>C rs1053982606 0.00003
NM_024537.4(CARS2):c.1649G>A (p.Trp550Ter) rs375213252 0.00003
NM_024537.4(CARS2):c.1688C>T (p.Ala563Val) rs542366222 0.00003
NM_024537.4(CARS2):c.269A>G (p.His90Arg) rs752180849 0.00003
NM_024537.4(CARS2):c.466G>T (p.Val156Phe) rs148098469 0.00003
NM_024537.4(CARS2):c.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_004208.4(AIFM1):c.1058T>C (p.Met353Thr) rs1157071585 0.00002
NM_004208.4(AIFM1):c.1465G>A (p.Asp489Asn) rs748493176 0.00002
NM_004208.4(AIFM1):c.187A>G (p.Lys63Glu) rs142864613 0.00002
NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys) rs1488258655 0.00002
NM_004208.4(AIFM1):c.370C>A (p.Pro124Thr) rs751325295 0.00002
NM_004208.4(AIFM1):c.8G>A (p.Arg3Gln) rs769299264 0.00002
NM_006567.5(FARS2):c.1293G>T (p.Arg431Ser) rs749743875 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.409A>G (p.Ser137Gly) rs903869853 0.00002
NM_006567.5(FARS2):c.496G>A (p.Ala166Thr) rs764932724 0.00002
NM_006567.5(FARS2):c.771T>C (p.Asp257=) rs779590953 0.00002
NM_012123.4(MTO1):c.1055C>T (p.Thr352Met) rs775003861 0.00002
NM_012123.4(MTO1):c.1172C>G (p.Thr391Ser) rs377702561 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_012123.4(MTO1):c.1340T>C (p.Ile447Thr) rs755027057 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.146C>T (p.Thr49Ile) rs753822562 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.286T>A (p.Leu96Met) rs145131490 0.00002
NM_012123.4(MTO1):c.313G>A (p.Asp105Asn) rs1008930519 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_018127.7(ELAC2):c.1351C>A (p.Leu451Met) rs761514025 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.1645G>A (p.Ala549Thr) rs757284769 0.00002
NM_018127.7(ELAC2):c.19C>G (p.Leu7Val) rs1003043105 0.00002
NM_018127.7(ELAC2):c.2363G>A (p.Arg788Gln) rs567494102 0.00002
NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp) rs767611235 0.00002
NM_018127.7(ELAC2):c.293A>G (p.His98Arg) rs1471918559 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.841G>A (p.Gly281Arg) rs147215643 0.00002
NM_018127.7(ELAC2):c.8C>T (p.Ala3Val) rs1273371887 0.00002
NM_024537.4(CARS2):c.1021C>T (p.Arg341Trp) rs138951398 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.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.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.545G>A (p.Arg182His) rs769307767 0.00002
NM_024537.4(CARS2):c.671G>A (p.Arg224His) rs199589765 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.34C>T (p.Pro12Ser) rs751310720 0.00002
NM_152269.5(MTRFR):c.459G>C (p.Lys153Asn) rs773644413 0.00002
NM_004208.4(AIFM1):c.1049A>T (p.Asn350Ile) rs1189292666 0.00001
NM_004208.4(AIFM1):c.1105G>T (p.Val369Leu) rs1444952549 0.00001
NM_004208.4(AIFM1):c.1109A>G (p.Gln370Arg) rs149001713 0.00001
NM_004208.4(AIFM1):c.1151A>G (p.Lys384Arg) rs1217648919 0.00001
NM_004208.4(AIFM1):c.1349G>A (p.Arg450Lys) rs1424829478 0.00001
NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala) rs1356446773 0.00001
NM_004208.4(AIFM1):c.1501A>T (p.Ser501Cys) rs769816388 0.00001
NM_004208.4(AIFM1):c.1594A>G (p.Ser532Gly) rs1603218953 0.00001
NM_004208.4(AIFM1):c.1631C>T (p.Pro544Leu) rs1569415383 0.00001
NM_004208.4(AIFM1):c.1669G>T (p.Gly557Trp) rs1308417889 0.00001
NM_004208.4(AIFM1):c.1674G>C (p.Glu558Asp) rs1391324425 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004208.4(AIFM1):c.1751G>A (p.Arg584Gln) rs747871895 0.00001
NM_004208.4(AIFM1):c.1770+5G>T rs754828679 0.00001
NM_004208.4(AIFM1):c.253T>C (p.Tyr85His) rs779484508 0.00001
NM_004208.4(AIFM1):c.350C>T (p.Ala117Val) rs145943366 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_004208.4(AIFM1):c.646G>A (p.Asp216Asn) rs1170792825 0.00001
NM_004208.4(AIFM1):c.721A>G (p.Asn241Asp) rs778430332 0.00001
NM_004208.4(AIFM1):c.74T>C (p.Val25Ala) rs912356394 0.00001
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) rs724160017 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.1157G>A (p.Arg386Gln) rs778309551 0.00001
NM_006567.5(FARS2):c.1163T>C (p.Ile388Thr) rs1407198979 0.00001
NM_006567.5(FARS2):c.1243C>T (p.Arg415Cys) rs759833179 0.00001
NM_006567.5(FARS2):c.1282A>G (p.Arg428Gly) rs1339803692 0.00001
NM_006567.5(FARS2):c.128C>G (p.Thr43Ser) rs769031929 0.00001
NM_006567.5(FARS2):c.1312C>G (p.Gln438Glu) rs1477908693 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.361A>G (p.Thr121Ala) rs1057519095 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.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.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.704C>T (p.Ala235Val) rs763234952 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.80A>G (p.His27Arg) rs537850422 0.00001
NM_006567.5(FARS2):c.86A>G (p.His29Arg) rs754644366 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.958G>T (p.Ala320Ser) rs767870566 0.00001
NM_006567.5(FARS2):c.961A>G (p.Met321Val) rs1405389231 0.00001
NM_006567.5(FARS2):c.988C>T (p.Arg330Cys) rs757442324 0.00001
NM_006567.5(FARS2):c.997T>A (p.Trp333Arg) rs1257634772 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.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.1273G>A (p.Gly425Arg) rs779264207 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.139G>A (p.Ala47Thr) rs1049905319 0.00001
NM_012123.4(MTO1):c.1463G>A (p.Arg488Gln) rs552919722 0.00001
NM_012123.4(MTO1):c.1510G>A (p.Ala504Thr) rs761290955 0.00001
NM_012123.4(MTO1):c.1541G>C (p.Gly514Ala) rs1392884488 0.00001
NM_012123.4(MTO1):c.1616C>T (p.Thr539Ile) rs770538630 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.1885C>T (p.Arg629Ter) rs752295415 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.2036A>G (p.Gln679Arg) rs1418465267 0.00001
NM_012123.4(MTO1):c.2056A>G (p.Arg686Gly) rs780656358 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.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.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.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.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_012123.4(MTO1):c.82G>A (p.Asp28Asn) rs780242649 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_012123.4(MTO1):c.956A>G (p.Glu319Gly) rs376396609 0.00001
NM_012123.4(MTO1):c.988C>T (p.His330Tyr) rs544282554 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.1151A>T (p.Lys384Met) rs752533400 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.1323C>G (p.Cys441Trp) rs1567751438 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.1436A>G (p.Gln479Arg) rs1165336639 0.00001
NM_018127.7(ELAC2):c.1441C>G (p.Pro481Ala) rs1474253067 0.00001
NM_018127.7(ELAC2):c.146C>T (p.Ser49Leu) rs1235154753 0.00001
NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr) rs1240684251 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.1728G>C (p.Leu576Phe) rs2040437747 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.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.2011G>A (p.Glu671Lys) rs754567726 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.2131G>A (p.Val711Met) rs560136994 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.226G>A (p.Val76Ile) rs377073548 0.00001
NM_018127.7(ELAC2):c.2291T>G (p.Ile764Ser) rs779668862 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.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.2455C>T (p.Gln819Ter) rs1439706479 0.00001
NM_018127.7(ELAC2):c.2467G>T (p.Val823Phe) rs376515152 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.310C>T (p.Arg104Cys) rs748205884 0.00001
NM_018127.7(ELAC2):c.372G>A (p.Met124Ile) rs765484266 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.546G>C (p.Gln182His) rs747959167 0.00001
NM_018127.7(ELAC2):c.560-10T>C rs1318229217 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.668A>G (p.His223Arg) rs745937151 0.00001
NM_018127.7(ELAC2):c.677A>G (p.His226Arg) rs757735135 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.82C>T (p.Arg28Cys) rs763864314 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_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.1061A>G (p.Asp354Gly) rs745633983 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.1135G>A (p.Ala379Thr) rs748825203 0.00001
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser) rs746241006 0.00001
NM_024537.4(CARS2):c.119G>C (p.Arg40Pro) rs916018424 0.00001
NM_024537.4(CARS2):c.1207A>G (p.Lys403Glu) rs762700157 0.00001
NM_024537.4(CARS2):c.1250C>G (p.Pro417Arg) rs766539038 0.00001
NM_024537.4(CARS2):c.126G>C (p.Trp42Cys) rs1019467802 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.1321C>A (p.Pro441Thr) rs777089715 0.00001
NM_024537.4(CARS2):c.1324G>C (p.Glu442Gln) rs761022161 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.1442C>T (p.Ala481Val) rs1263877433 0.00001
NM_024537.4(CARS2):c.1463A>G (p.Asp488Gly) rs1484021017 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.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.1588C>T (p.Arg530Cys) rs1368294658 0.00001
NM_024537.4(CARS2):c.1591C>T (p.Arg531Trp) rs566143026 0.00001
NM_024537.4(CARS2):c.1623+3G>A rs554100218 0.00001
NM_024537.4(CARS2):c.1631G>A (p.Ser544Asn) rs747870375 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.178G>C (p.Gly60Arg) rs199874662 0.00001
NM_024537.4(CARS2):c.217G>T (p.Ala73Ser) rs761282112 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.394A>G (p.Met132Val) rs2063353822 0.00001
NM_024537.4(CARS2):c.398A>G (p.Asn133Ser) rs748579020 0.00001
NM_024537.4(CARS2):c.451A>G (p.Met151Val) rs1238769844 0.00001
NM_024537.4(CARS2):c.478A>C (p.Thr160Pro) rs1360090647 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.571+5G>C rs1005137257 0.00001
NM_024537.4(CARS2):c.601G>A (p.Gly201Arg) rs1305604439 0.00001
NM_024537.4(CARS2):c.632T>C (p.Val211Ala) rs773483383 0.00001
NM_024537.4(CARS2):c.634C>T (p.Pro212Ser) rs748268508 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.662C>G (p.Ser221Cys) rs201064390 0.00001
NM_024537.4(CARS2):c.688G>A (p.Ala230Thr) rs772065497 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.84G>T (p.Trp28Cys) rs1388391654 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.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_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.433G>A (p.Ala145Thr) rs749208492 0.00001
NM_152269.5(MTRFR):c.475T>C (p.Trp159Arg) rs755467137 0.00001
NC_000006.11:g.(?_5109657)_(5369435_?)dup
NC_000006.11:g.(?_5109657)_(5404954_?)dup
NC_000006.11:g.(?_5368804)_(5404954_?)dup
NC_000006.11:g.(?_5368804)_(5613573_?)dup
NC_000006.11:g.(?_5431254)_(5431425_?)del
NC_000006.11:g.(?_5431254)_(5431425_?)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_?)dup
NC_000006.11:g.(?_74171578)_(74202095_?)dup
NC_000006.11:g.(?_74175912)_(74176349_?)dup
NC_000006.11:g.(?_74183068)_(74210458_?)dup
NC_000006.11:g.(?_74201937)_(74210458_?)del
NC_000006.11:g.(?_74207439)_(74210458_?)del
NC_000006.12:g.(?_73461845)_(73462081_?)dup
NC_000012.11:g.(?_123738222)_(123738523_?)dup
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_000013.11:g.110646091del rs1475142913
NC_000017.10:g.(?_12896135)_(12909316_?)dup
NC_000017.10:g.(?_12896135)_(12921264_?)dup
NC_000017.10:g.(?_12896201)_(12896263_?)dup
NC_000017.11:g.13016942_13016943insGAAAACATTTAAACAGGATAACATGAACAGAACAAGCAACCTTTAACCTAAGAATGA
NC_000023.10:g.(?_128674417)_(129299630_?)del
NC_000023.10:g.(?_129263532)_(129272696_?)dup
NC_000023.10:g.(?_129263532)_(129299630_?)del
NC_000023.10:g.(?_129263532)_(129299630_?)dup
NC_000023.10:g.(?_129290415)_(129290597_?)dup
NM_004208.4(AIFM1):c.1029C>G (p.Ile343Met) rs2124653028
NM_004208.4(AIFM1):c.106+20C>T rs2124682291
NM_004208.4(AIFM1):c.106+3dup
NM_004208.4(AIFM1):c.1073G>A (p.Arg358Gln)
NM_004208.4(AIFM1):c.1081G>A (p.Val361Ile) rs1569417347
NM_004208.4(AIFM1):c.1094C>G (p.Pro365Arg) rs1242184469
NM_004208.4(AIFM1):c.1112C>A (p.Ser371Tyr)
NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile) rs1056740593
NM_004208.4(AIFM1):c.1120G>A (p.Val374Ile) rs1057521792
NM_004208.4(AIFM1):c.1165G>T (p.Val389Leu) rs2124651900
NM_004208.4(AIFM1):c.1174G>A (p.Asp392Asn) rs2124651896
NM_004208.4(AIFM1):c.1181T>C (p.Ile394Thr)
NM_004208.4(AIFM1):c.1208A>G (p.Asn403Ser) rs2030326799
NM_004208.4(AIFM1):c.122G>A (p.Arg41Gln)
NM_004208.4(AIFM1):c.1253T>G (p.Phe418Cys)
NM_004208.4(AIFM1):c.1288C>T (p.Arg430Cys)
NM_004208.4(AIFM1):c.128A>G (p.His43Arg)
NM_004208.4(AIFM1):c.1334T>C (p.Ile445Thr)
NM_004208.4(AIFM1):c.1337A>G (p.Lys446Arg)
NM_004208.4(AIFM1):c.1354G>A (p.Val452Ile)
NM_004208.4(AIFM1):c.1373C>G (p.Ala458Gly)
NM_004208.4(AIFM1):c.1378G>A (p.Val460Met)
NM_004208.4(AIFM1):c.1412G>A (p.Gly471Glu) rs2124648396
NM_004208.4(AIFM1):c.143_145del (p.Leu48del) rs1227558669
NM_004208.4(AIFM1):c.1441A>G (p.Met481Val)
NM_004208.4(AIFM1):c.1448+12G>A
NM_004208.4(AIFM1):c.1448+5T>C
NM_004208.4(AIFM1):c.1481C>T (p.Ala494Val) rs1556254400
NM_004208.4(AIFM1):c.1483A>G (p.Ile495Val) rs2030090475
NM_004208.4(AIFM1):c.1495G>T (p.Asp499Tyr) rs2124646080
NM_004208.4(AIFM1):c.1507C>A (p.Pro503Thr)
NM_004208.4(AIFM1):c.1534A>G (p.Thr512Ala)
NM_004208.4(AIFM1):c.1553A>G (p.Lys518Arg)
NM_004208.4(AIFM1):c.1573+3A>G
NM_004208.4(AIFM1):c.1574-3C>T
NM_004208.4(AIFM1):c.1579G>A (p.Gly527Ser) rs2030006759
NM_004208.4(AIFM1):c.1582A>G (p.Ile528Val)
NM_004208.4(AIFM1):c.1586G>A (p.Arg529Gln) rs1227079178
NM_004208.4(AIFM1):c.1586G>T (p.Arg529Leu)
NM_004208.4(AIFM1):c.1589C>T (p.Ser530Leu)
NM_004208.4(AIFM1):c.1592A>T (p.Glu531Val) rs1285480966
NM_004208.4(AIFM1):c.1636A>C (p.Ser546Arg)
NM_004208.4(AIFM1):c.1636A>G (p.Ser546Gly)
NM_004208.4(AIFM1):c.1642C>T (p.Pro548Ser) rs863223897
NM_004208.4(AIFM1):c.1660C>T (p.Pro554Ser) rs2029999918
NM_004208.4(AIFM1):c.1679A>G (p.Tyr560Cys)
NM_004208.4(AIFM1):c.1688G>C (p.Gly563Ala)
NM_004208.4(AIFM1):c.1703T>G (p.Leu568Arg) rs2124644072
NM_004208.4(AIFM1):c.1710C>A (p.Asp570Glu) rs1603218828
NM_004208.4(AIFM1):c.1729G>A (p.Val577Met) rs2124644030
NM_004208.4(AIFM1):c.1781A>C (p.Asp594Ala) rs2029975071
NM_004208.4(AIFM1):c.1783G>A (p.Gly595Ser) rs2124643483
NM_004208.4(AIFM1):c.1805A>G (p.Asn602Ser) rs147206884
NM_004208.4(AIFM1):c.1820T>A (p.Leu607Gln) rs863223899
NM_004208.4(AIFM1):c.193G>A (p.Asp65Asn)
NM_004208.4(AIFM1):c.193G>C (p.Asp65His)
NM_004208.4(AIFM1):c.202G>A (p.Val68Met) rs2124673763
NM_004208.4(AIFM1):c.214A>G (p.Ile72Val) rs2124673756
NM_004208.4(AIFM1):c.232G>A (p.Val78Ile) rs2031166484
NM_004208.4(AIFM1):c.238G>A (p.Ala80Thr) rs1603230120
NM_004208.4(AIFM1):c.23C>T (p.Ala8Val)
NM_004208.4(AIFM1):c.245C>T (p.Ala82Val)
NM_004208.4(AIFM1):c.249T>C (p.Tyr83=) rs2124673731
NM_004208.4(AIFM1):c.25G>T (p.Ala9Ser)
NM_004208.4(AIFM1):c.271G>A (p.Asp91Asn) rs1362616989
NM_004208.4(AIFM1):c.284A>G (p.Tyr95Cys) rs2030882411
NM_004208.4(AIFM1):c.316C>A (p.Pro106Thr)
NM_004208.4(AIFM1):c.31G>C (p.Ala11Pro)
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1]) rs2030881306
NM_004208.4(AIFM1):c.349+6T>C
NM_004208.4(AIFM1):c.350-12T>C
NM_004208.4(AIFM1):c.350-3C>T
NM_004208.4(AIFM1):c.350-5T>C
NM_004208.4(AIFM1):c.367G>A (p.Val123Ile)
NM_004208.4(AIFM1):c.376G>A (p.Asp126Asn)
NM_004208.4(AIFM1):c.397C>A (p.Pro133Thr)
NM_004208.4(AIFM1):c.397C>T (p.Pro133Ser)
NM_004208.4(AIFM1):c.409A>G (p.Ile137Val)
NM_004208.4(AIFM1):c.473G>C (p.Arg158Thr) rs1878089773
NM_004208.4(AIFM1):c.474+3A>G
NM_004208.4(AIFM1):c.474+5G>A
NM_004208.4(AIFM1):c.497C>T (p.Pro166Leu) rs193920813
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_004208.4(AIFM1):c.511A>G (p.Met171Val) rs2030801273
NM_004208.4(AIFM1):c.53C>T (p.Pro18Leu)
NM_004208.4(AIFM1):c.548A>G (p.Asp183Gly)
NM_004208.4(AIFM1):c.562A>G (p.Thr188Ala)
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
NM_004208.4(AIFM1):c.606-14T>A
NM_004208.4(AIFM1):c.606C>T (p.Ser202=) rs2030721376
NM_004208.4(AIFM1):c.620C>T (p.Pro207Leu)
NM_004208.4(AIFM1):c.630C>A (p.Phe210Leu) rs1603226664
NM_004208.4(AIFM1):c.659T>C (p.Ile220Thr)
NM_004208.4(AIFM1):c.696+3G>A rs2030719224
NM_004208.4(AIFM1):c.700G>C (p.Val234Leu)
NM_004208.4(AIFM1):c.722A>G (p.Asn241Ser)
NM_004208.4(AIFM1):c.723C>T (p.Asn241=)
NM_004208.4(AIFM1):c.74T>G (p.Val25Gly) rs912356394
NM_004208.4(AIFM1):c.77G>C (p.Arg26Pro)
NM_004208.4(AIFM1):c.782-3C>T
NM_004208.4(AIFM1):c.818C>T (p.Ala273Val)
NM_004208.4(AIFM1):c.83C>A (p.Pro28Gln) rs2124682374
NM_004208.4(AIFM1):c.875G>A (p.Ser292Asn)
NM_004208.4(AIFM1):c.881A>G (p.Glu294Gly)
NM_004208.4(AIFM1):c.937A>G (p.Ser313Gly) rs2124655169
NM_004208.4(AIFM1):c.956T>A (p.Leu319His) rs2030463268
NM_004208.4(AIFM1):c.980G>T (p.Gly327Val) rs2030380751
NM_004208.4(AIFM1):c.986A>G (p.Glu329Gly)
NM_004208.4(AIFM1):c.98G>A (p.Arg33Gln)
NM_004208.4(AIFM1):c.98_103del (p.Arg33_Leu34del)
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.1050G>C (p.Gln350His) rs2150500869
NM_006567.5(FARS2):c.1058A>G (p.Lys353Arg) rs2150500894
NM_006567.5(FARS2):c.1084G>A (p.Ala362Thr)
NM_006567.5(FARS2):c.1084G>T (p.Ala362Ser) rs1775281586
NM_006567.5(FARS2):c.1087G>A (p.Val363Met)
NM_006567.5(FARS2):c.1093A>C (p.Asn365His)
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.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.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.1218G>A (p.Lys406=)
NM_006567.5(FARS2):c.1250C>T (p.Thr417Met) rs1000376824
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.1271C>G (p.Thr424Ser)
NM_006567.5(FARS2):c.1289T>C (p.Val430Ala) rs1763040456
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.139C>T (p.Pro47Ser) rs201710092
NM_006567.5(FARS2):c.146G>A (p.Ser49Asn) rs1758836861
NM_006567.5(FARS2):c.151G>C (p.Val51Leu)
NM_006567.5(FARS2):c.167A>T (p.Lys56Ile)
NM_006567.5(FARS2):c.172T>C (p.Tyr58His) rs2127643060
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.206A>G (p.Lys69Arg)
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.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.261G>C (p.Trp87Cys)
NM_006567.5(FARS2):c.284A>G (p.Glu95Gly)
NM_006567.5(FARS2):c.28G>A (p.Ala10Thr) rs753993545
NM_006567.5(FARS2):c.296A>G (p.Lys99Arg)
NM_006567.5(FARS2):c.297G>T (p.Lys99Asn) rs2127643451
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.340G>A (p.Asp114Asn)
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.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.407C>T (p.Pro136Leu) rs199863563
NM_006567.5(FARS2):c.410G>C (p.Ser137Thr) rs1758859644
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.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.475C>T (p.His159Tyr)
NM_006567.5(FARS2):c.508G>A (p.Ala170Thr)
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) rs1554169392
NM_006567.5(FARS2):c.528T>A (p.Asp176Glu)
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.593G>A (p.Arg198Gln)
NM_006567.5(FARS2):c.593G>T (p.Arg198Leu)
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.646C>G (p.Gln216Glu)
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.698T>C (p.Met233Thr) rs2127718699
NM_006567.5(FARS2):c.700G>A (p.Glu234Lys) rs1562015500
NM_006567.5(FARS2):c.772+4A>C rs1368789274
NM_006567.5(FARS2):c.772+4A>G
NM_006567.5(FARS2):c.781A>T (p.Ile261Leu) rs201927340
NM_006567.5(FARS2):c.7G>A (p.Gly3Ser)
NM_006567.5(FARS2):c.815A>C (p.His272Pro) rs2127767829
NM_006567.5(FARS2):c.852A>C (p.Glu284Asp) rs772624228
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+3A>G rs1034582028
NM_006567.5(FARS2):c.907G>A (p.Gly303Ser) rs1770886046
NM_006567.5(FARS2):c.911C>T (p.Ala304Val)
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.932C>T (p.Ala311Val)
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.958G>A (p.Ala320Thr) rs767870566
NM_006567.5(FARS2):c.976A>G (p.Ile326Val)
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>T (p.Trp333Cys)
NM_012123.4(MTO1):c.1000T>A (p.Leu334Met)
NM_012123.4(MTO1):c.1013G>A (p.Gly338Glu) rs1771440211
NM_012123.4(MTO1):c.103C>G (p.Pro35Ala)
NM_012123.4(MTO1):c.1046T>C (p.Leu349Ser)
NM_012123.4(MTO1):c.104C>T (p.Pro35Leu) rs777113004
NM_012123.4(MTO1):c.1066G>A (p.Glu356Lys) rs1012440521
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.1117G>A (p.Val373Met)
NM_012123.4(MTO1):c.1126C>A (p.Pro376Thr)
NM_012123.4(MTO1):c.1135G>A (p.Gly379Ser) rs746493463
NM_012123.4(MTO1):c.1141C>G (p.Gln381Glu) rs1771463297
NM_012123.4(MTO1):c.115G>A (p.Val39Met) rs766653154
NM_012123.4(MTO1):c.1160C>T (p.Pro387Leu)
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.1268T>C (p.Ile423Thr)
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.1294G>A (p.Val432Ile) rs774315947
NM_012123.4(MTO1):c.1298G>A (p.Ser433Asn)
NM_012123.4(MTO1):c.1327A>T (p.Thr443Ser)
NM_012123.4(MTO1):c.1353T>G (p.Ile451Met)
NM_012123.4(MTO1):c.1361T>G (p.Leu454Arg)
NM_012123.4(MTO1):c.1372G>A (p.Gly458Ser)
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.142G>A (p.Gly48Arg)
NM_012123.4(MTO1):c.1446C>G (p.Asp482Glu) rs2150037248
NM_012123.4(MTO1):c.146C>G (p.Thr49Ser) rs753822562
NM_012123.4(MTO1):c.1477G>A (p.Ala493Thr)
NM_012123.4(MTO1):c.1483T>C (p.Cys495Arg)
NM_012123.4(MTO1):c.1493A>G (p.Gln498Arg)
NM_012123.4(MTO1):c.1499G>A (p.Arg500Gln) rs770464521
NM_012123.4(MTO1):c.1499G>C (p.Arg500Pro)
NM_012123.4(MTO1):c.1504G>A (p.Glu502Lys)
NM_012123.4(MTO1):c.152C>T (p.Ala51Val)
NM_012123.4(MTO1):c.1561A>G (p.Ile521Val)
NM_012123.4(MTO1):c.1563T>G (p.Ile521Met) rs2150037480
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.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.1637+3A>G
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.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.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.1687A>G (p.Lys563Glu) rs577810557
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.1756+5A>T
NM_012123.4(MTO1):c.1759A>G (p.Thr587Ala)
NM_012123.4(MTO1):c.1763A>C (p.Tyr588Ser)
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.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.1840C>G (p.Leu614Val)
NM_012123.4(MTO1):c.1849T>A (p.Leu617Met)
NM_012123.4(MTO1):c.1849T>G (p.Leu617Val)
NM_012123.4(MTO1):c.1868C>T (p.Ser623Phe) rs1772032922
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.1916C>T (p.Thr639Met)
NM_012123.4(MTO1):c.1917+2_1917+3insGAGAAAGTACATTTTAGTCGTCCACAGACGGT rs1207289132
NM_012123.4(MTO1):c.1920C>G (p.Ile640Met) rs201198672
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.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.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.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.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.301T>C (p.Ser101Pro) rs1235731820
NM_012123.4(MTO1):c.305G>A (p.Arg102His)
NM_012123.4(MTO1):c.332A>G (p.Tyr111Cys)
NM_012123.4(MTO1):c.345C>G (p.Asn115Lys)
NM_012123.4(MTO1):c.377G>C (p.Arg126Thr)
NM_012123.4(MTO1):c.38T>C (p.Val13Ala)
NM_012123.4(MTO1):c.413T>C (p.Met138Thr)
NM_012123.4(MTO1):c.416A>C (p.Gln139Pro)
NM_012123.4(MTO1):c.451C>G (p.Gln151Glu)
NM_012123.4(MTO1):c.458G>A (p.Gly153Glu)
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.530T>C (p.Val177Ala) rs1771005240
NM_012123.4(MTO1):c.535+4C>T
NM_012123.4(MTO1):c.535+5G>T rs1405997705
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.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.632G>T (p.Gly211Val)
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.652T>C (p.Ser218Pro)
NM_012123.4(MTO1):c.667C>G (p.Gln223Glu)
NM_012123.4(MTO1):c.674T>G (p.Leu225Arg) rs1327928200
NM_012123.4(MTO1):c.681G>T (p.Lys227Asn) rs781586985
NM_012123.4(MTO1):c.694G>T (p.Val232Leu)
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.725G>A (p.Arg242Gln)
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.80G>T (p.Ser27Ile) rs2150024378
NM_012123.4(MTO1):c.818G>C (p.Trp273Ser) rs2150031602
NM_012123.4(MTO1):c.826-10T>C
NM_012123.4(MTO1):c.83A>C (p.Asp28Ala) rs1770829413
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.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.938+14G>A
NM_012123.4(MTO1):c.939-6T>G
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.990T>A (p.His330Gln) rs2150035817
NM_012123.4(MTO1):c.994G>A (p.Val332Ile) rs1173140501
NM_018127.7(ELAC2):c.1006C>T (p.Pro336Ser) rs565351884
NM_018127.7(ELAC2):c.1017GGT[1] (p.Val341del) rs1344475140
NM_018127.7(ELAC2):c.1030G>A (p.Ala344Thr)
NM_018127.7(ELAC2):c.1034C>G (p.Pro345Arg) rs2143612955
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.106C>T (p.Pro36Ser)
NM_018127.7(ELAC2):c.107C>T (p.Pro36Leu)
NM_018127.7(ELAC2):c.1080-3C>T rs538756575
NM_018127.7(ELAC2):c.1081T>G (p.Phe361Val)
NM_018127.7(ELAC2):c.1082T>G (p.Phe361Cys)
NM_018127.7(ELAC2):c.1094C>T (p.Thr365Ile) rs1000361851
NM_018127.7(ELAC2):c.1108C>G (p.Leu370Val) rs2143606789
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.117C>A (p.His39Gln) rs748570371
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.1211G>A (p.Arg404His) rs200565641
NM_018127.7(ELAC2):c.1211G>T (p.Arg404Leu) rs200565641
NM_018127.7(ELAC2):c.1214G>A (p.Cys405Tyr)
NM_018127.7(ELAC2):c.1218+5T>C rs1365154419
NM_018127.7(ELAC2):c.1218G>A (p.Lys406=) rs777546567
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.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.1289G>C (p.Arg430Thr)
NM_018127.7(ELAC2):c.1305G>T (p.Arg435Ser) rs1205360358
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.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.1405G>A (p.Asp469Asn)
NM_018127.7(ELAC2):c.1418C>A (p.Pro473Gln)
NM_018127.7(ELAC2):c.1424-3C>T rs878855048
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.1442C>T (p.Pro481Leu)
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.1476C>G (p.Ile492Met)
NM_018127.7(ELAC2):c.1478C>G (p.Pro493Arg)
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.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.1563T>G (p.Phe521Leu) rs761488832
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.161G>T (p.Gly54Val)
NM_018127.7(ELAC2):c.1630G>T (p.Val544Leu)
NM_018127.7(ELAC2):c.1639C>A (p.Leu547Met)
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+2dup
NM_018127.7(ELAC2):c.1659+3G>A rs374767852
NM_018127.7(ELAC2):c.1659+5G>A rs2143568451
NM_018127.7(ELAC2):c.1659G>C (p.Thr553=)
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.1675T>G (p.Leu559Val)
NM_018127.7(ELAC2):c.1676TGC[1] (p.Leu560del) rs2040448051
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.1698+5G>A rs910420350
NM_018127.7(ELAC2):c.1702T>C (p.Ser568Pro) rs2143562579
NM_018127.7(ELAC2):c.1715C>T (p.Pro572Leu)
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.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.1796T>C (p.Leu599Pro) rs2143561613
NM_018127.7(ELAC2):c.1808+4A>G rs1044835449
NM_018127.7(ELAC2):c.1812G>T (p.Met604Ile)
NM_018127.7(ELAC2):c.1823A>G (p.Lys608Arg) rs2143557076
NM_018127.7(ELAC2):c.183G>T (p.Gln61His)
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.1865A>G (p.Glu622Gly) rs119484087
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+3A>G rs1164400207
NM_018127.7(ELAC2):c.1908G>A (p.Glu636=)
NM_018127.7(ELAC2):c.1928G>A (p.Arg643Gln) rs199545091
NM_018127.7(ELAC2):c.1928G>T (p.Arg643Leu)
NM_018127.7(ELAC2):c.1937A>G (p.Lys646Arg)
NM_018127.7(ELAC2):c.1940A>T (p.His647Leu) rs1343793177
NM_018127.7(ELAC2):c.194C>T (p.Ala65Val)
NM_018127.7(ELAC2):c.1960G>C (p.Val654Leu)
NM_018127.7(ELAC2):c.1985T>C (p.Val662Ala) rs1555572124
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.2026A>G (p.Met676Val) rs2143554465
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.2041A>C (p.Thr681Pro)
NM_018127.7(ELAC2):c.2066T>G (p.Leu689Arg) rs2040364723
NM_018127.7(ELAC2):c.2080G>A (p.Glu694Lys) rs1426760558
NM_018127.7(ELAC2):c.2096A>C (p.Glu699Ala)
NM_018127.7(ELAC2):c.2114C>A (p.Thr705Lys)
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.214G>A (p.Ala72Thr)
NM_018127.7(ELAC2):c.215C>T (p.Ala72Val)
NM_018127.7(ELAC2):c.2183G>A (p.Arg728His)
NM_018127.7(ELAC2):c.218C>A (p.Ala73Glu) rs2143696607
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.2227G>A (p.Val743Met)
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+6_2253+321del rs2143544217
NM_018127.7(ELAC2):c.2255T>C (p.Val752Ala)
NM_018127.7(ELAC2):c.2266_2267del (p.Asp756fs) rs2040267666
NM_018127.7(ELAC2):c.2278A>T (p.Met760Leu)
NM_018127.7(ELAC2):c.2278_2298dup (p.Pro766_Leu767insMetProLysLeuIleProPro)
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.2326G>A (p.Glu776Lys)
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.2351A>G (p.Lys784Arg)
NM_018127.7(ELAC2):c.2353C>T (p.Arg785Trp) rs1060502162
NM_018127.7(ELAC2):c.2359C>G (p.Leu787Val)
NM_018127.7(ELAC2):c.2362C>T (p.Arg788Trp)
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.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.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>T (p.Glu804Asp)
NM_018127.7(ELAC2):c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) rs878855051
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.2452C>G (p.Pro818Ala)
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.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.257A>G (p.Asn86Ser)
NM_018127.7(ELAC2):c.268G>A (p.Gly90Ser)
NM_018127.7(ELAC2):c.283A>G (p.Met95Val)
NM_018127.7(ELAC2):c.291G>C (p.Glu97Asp)
NM_018127.7(ELAC2):c.297-3T>A
NM_018127.7(ELAC2):c.29C>T (p.Ser10Phe) rs2143698286
NM_018127.7(ELAC2):c.317A>G (p.Asp106Gly)
NM_018127.7(ELAC2):c.325T>C (p.Phe109Leu) rs1060502163
NM_018127.7(ELAC2):c.340C>T (p.His114Tyr)
NM_018127.7(ELAC2):c.361T>G (p.Leu121Val)
NM_018127.7(ELAC2):c.368G>A (p.Gly123Glu)
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.415T>C (p.Ser139Pro)
NM_018127.7(ELAC2):c.422C>T (p.Pro141Leu) rs1598274263
NM_018127.7(ELAC2):c.432+1del rs766739618
NM_018127.7(ELAC2):c.433G>A (p.Glu145Lys)
NM_018127.7(ELAC2):c.467G>T (p.Gly156Val)
NM_018127.7(ELAC2):c.472T>G (p.Leu158Val)
NM_018127.7(ELAC2):c.48G>A (p.Met16Ile)
NM_018127.7(ELAC2):c.490+5G>A
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.50C>G (p.Ser17Trp)
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.560-18G>A
NM_018127.7(ELAC2):c.560-1G>A rs2143661948
NM_018127.7(ELAC2):c.56_73del (p.Gly19_Gln24del) rs771710773
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.613A>G (p.Ser205Gly) rs2143661549
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>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.689A>G (p.Gln230Arg)
NM_018127.7(ELAC2):c.692G>A (p.Arg231Lys) rs1259675163
NM_018127.7(ELAC2):c.697_698delinsAA (p.Gly233Lys)
NM_018127.7(ELAC2):c.713C>T (p.Ser238Phe)
NM_018127.7(ELAC2):c.739-13_739-9del
NM_018127.7(ELAC2):c.744C>G (p.His248Gln)
NM_018127.7(ELAC2):c.752G>A (p.Arg251Lys) rs2041085908
NM_018127.7(ELAC2):c.793C>G (p.Pro265Ala)
NM_018127.7(ELAC2):c.797+11G>C
NM_018127.7(ELAC2):c.814G>T (p.Ala272Ser) rs765353090
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.857A>G (p.His286Arg)
NM_018127.7(ELAC2):c.85_86delinsTT (p.Arg29Phe) rs2143697792
NM_018127.7(ELAC2):c.871-10G>A
NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)
NM_018127.7(ELAC2):c.8C>G (p.Ala3Gly)
NM_018127.7(ELAC2):c.908G>T (p.Gly303Val) rs188256643
NM_018127.7(ELAC2):c.934C>T (p.Pro312Ser) rs912946000
NM_018127.7(ELAC2):c.941A>G (p.Glu314Gly)
NM_018127.7(ELAC2):c.949A>G (p.Ile317Val) rs2041026993
NM_018127.7(ELAC2):c.997G>A (p.Ala333Thr) rs2143613231
NM_018127.7(ELAC2):c.998C>T (p.Ala333Val)
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.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.1048C>G (p.Arg350Gly) rs773231493
NM_024537.4(CARS2):c.1055-3C>T
NM_024537.4(CARS2):c.1059C>G (p.Ile353Met) rs200079151
NM_024537.4(CARS2):c.1060G>A (p.Asp354Asn)
NM_024537.4(CARS2):c.1068dup (p.Asp357Ter)
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.10A>G (p.Thr4Ala) rs1037184355
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.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.1192_1193del (p.Arg398fs)
NM_024537.4(CARS2):c.1193+5G>T
NM_024537.4(CARS2):c.1193G>A (p.Arg398Lys)
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.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.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.1313T>G (p.Leu438Arg) rs2139679199
NM_024537.4(CARS2):c.1318-8T>A rs1044806231
NM_024537.4(CARS2):c.133C>A (p.Pro45Thr)
NM_024537.4(CARS2):c.1358T>C (p.Ile453Thr)
NM_024537.4(CARS2):c.1391T>C (p.Val464Ala)
NM_024537.4(CARS2):c.1402C>G (p.Leu468Val)
NM_024537.4(CARS2):c.1416+5G>A
NM_024537.4(CARS2):c.1416G>A (p.Gln472=)
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.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.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.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.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.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.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.1552G>C (p.Glu518Gln)
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.1595G>A (p.Gly532Asp)
NM_024537.4(CARS2):c.1598T>C (p.Leu533Pro) rs2139666763
NM_024537.4(CARS2):c.160G>T (p.Val54Leu)
NM_024537.4(CARS2):c.1615A>C (p.Asn539His)
NM_024537.4(CARS2):c.1623+3G>C rs554100218
NM_024537.4(CARS2):c.1623+4A>G rs1887454172
NM_024537.4(CARS2):c.1624-1_1624inv
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.1637C>T (p.Thr546Ile)
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.1678C>T (p.Gln560Ter)
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.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+5G>A rs1594436730
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.24_35del (p.Gly9_Pro12del)
NM_024537.4(CARS2):c.254_255del (p.His85fs) rs1204835445
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.275+5G>A
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.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.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.342G>A (p.Met114Ile) rs139689196
NM_024537.4(CARS2):c.344T>C (p.Val115Ala)
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.394A>T (p.Met132Leu) rs2063353822
NM_024537.4(CARS2):c.3G>T (p.Met1Ile) rs2139948769
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.466-1G>A rs770282381
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.562A>G (p.Thr188Ala) rs1594372405
NM_024537.4(CARS2):c.566C>T (p.Ala189Val) rs1456864472
NM_024537.4(CARS2):c.571+2T>C rs749363417
NM_024537.4(CARS2):c.575A>G (p.Asn192Ser) rs1270654557
NM_024537.4(CARS2):c.5T>G (p.Leu2Trp) rs2063949254
NM_024537.4(CARS2):c.625G>A (p.Gly209Ser)
NM_024537.4(CARS2):c.625G>T (p.Gly209Cys) rs760043245
NM_024537.4(CARS2):c.641C>T (p.Pro214Leu) rs543389950
NM_024537.4(CARS2):c.655G>C (p.Ala219Pro) rs727505361
NM_024537.4(CARS2):c.656-16C>A rs755708345
NM_024537.4(CARS2):c.656C>T (p.Ala219Val) rs541127961
NM_024537.4(CARS2):c.65G>A (p.Gly22Glu)
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.669G>T (p.Lys223Asn)
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.728C>T (p.Ala243Val) rs2062971648
NM_024537.4(CARS2):c.742C>G (p.Pro248Ala) rs1465849835
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.785G>C (p.Ser262Thr)
NM_024537.4(CARS2):c.786-3C>T
NM_024537.4(CARS2):c.788T>C (p.Met263Thr) rs2139765950
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.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.914A>G (p.His305Arg) rs761552163
NM_024537.4(CARS2):c.920-3C>G
NM_024537.4(CARS2):c.922C>G (p.His308Asp) rs2062566720
NM_024537.4(CARS2):c.931G>A (p.Ala311Thr) rs763808514
NM_024537.4(CARS2):c.943GAA[1] (p.Glu316del) rs2062565908
NM_024537.4(CARS2):c.946G>A (p.Glu316Lys)
NM_024537.4(CARS2):c.973T>A (p.Tyr325Asn) rs1464734976
NM_024537.4(CARS2):c.977T>C (p.Ile326Thr)
NM_024537.4(CARS2):c.982A>G (p.Ile328Val) rs1448672862
NM_024537.4(CARS2):c.987+6G>A rs1479157443
NM_024537.4(CARS2):c.988-1G>A
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.136A>G (p.Lys46Glu) rs2138792797
NM_152269.5(MTRFR):c.136AAG[1] (p.Lys47del)
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.194T>C (p.Val65Ala) rs2138793021
NM_152269.5(MTRFR):c.202C>A (p.His68Asn)
NM_152269.5(MTRFR):c.229A>G (p.Lys77Glu)
NM_152269.5(MTRFR):c.22C>G (p.His8Asp)
NM_152269.5(MTRFR):c.256C>G (p.His86Asp)
NM_152269.5(MTRFR):c.257A>T (p.His86Leu) rs1565998038
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.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.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.389A>C (p.Glu130Ala)
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.430_432del (p.Arg144del)
NM_152269.5(MTRFR):c.431G>A (p.Arg144Lys)
NM_152269.5(MTRFR):c.437del (p.Lys146fs)
NM_152269.5(MTRFR):c.455A>G (p.Lys152Arg)
NM_152269.5(MTRFR):c.464_465dup (p.Lys156fs)
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

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