ClinVar Miner

List of variants reported as uncertain significance for acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 850
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.*826T>C rs200617844 0.00301
NM_000126.4(ETFA):c.*99G>A rs140121559 0.00250
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000126.4(ETFA):c.*46C>T rs183981964 0.00123
NM_000016.6(ACADM):c.*133T>C rs193140641 0.00117
NM_004453.4(ETFDH):c.-97G>A rs183609368 0.00099
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu) rs139457557 0.00051
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698 0.00050
NM_000017.4(ACADS):c.*27C>T rs188190117 0.00043
NM_000017.4(ACADS):c.-56C>G rs567626964 0.00041
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_000017.4(ACADS):c.47C>T (p.Ala16Val) rs147494970 0.00033
NM_004453.4(ETFDH):c.-61C>T rs377679439 0.00033
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) rs150710061 0.00031
NM_000017.4(ACADS):c.*266G>T rs537512881 0.00029
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys) rs374358376 0.00028
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) rs557160401 0.00027
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) rs149129214 0.00027
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) rs139519507 0.00026
NM_000016.5(ACADM):c.-403C>T rs886046518 0.00024
NM_001985.3(ETFB):c.541G>A (p.Val181Met) rs148443220 0.00022
NM_001985.3(ETFB):c.227G>A (p.Arg76His) rs148567433 0.00021
NM_000017.4(ACADS):c.795+6C>T rs376682235 0.00020
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942 0.00019
NM_000016.6(ACADM):c.-29T>C rs763024539 0.00018
NM_000016.6(ACADM):c.*44T>C rs374993494 0.00016
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000017.4(ACADS):c.656C>T (p.Thr219Met) rs148588313 0.00016
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) rs200186078 0.00016
NM_004453.4(ETFDH):c.972+13C>T rs199589412 0.00015
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158 0.00014
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697 0.00014
NM_000016.6(ACADM):c.-17C>G rs367734665 0.00013
NM_000016.6(ACADM):c.508G>T (p.Ala170Ser) rs763613689 0.00013
NM_004453.4(ETFDH):c.*53del rs753793193 0.00013
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser) rs372591001 0.00012
NM_000126.4(ETFA):c.-9G>T rs754953251 0.00011
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu) rs148261223 0.00011
NM_004453.3(ETFDH):c.-315G>A rs886059192 0.00011
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg) rs200611086 0.00011
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000126.4(ETFA):c.882+5T>C rs377259058 0.00010
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) rs748346465 0.00010
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu) rs772351035 0.00010
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000017.4(ACADS):c.989G>A (p.Arg330His) rs199633532 0.00009
NM_000126.4(ETFA):c.-59C>T rs80155214 0.00009
NM_000126.4(ETFA):c.11C>T (p.Ala4Val) rs761552468 0.00009
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
NM_000126.4(ETFA):c.-56C>A rs548701046 0.00008
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys) rs369713466 0.00008
NM_000017.4(ACADS):c.327C>T (p.Cys109=) rs144083614 0.00007
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln) rs145173884 0.00007
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) rs200290334 0.00007
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile) rs146982178 0.00007
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly) rs768440594 0.00006
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) rs760892123 0.00006
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu) rs200376609 0.00006
NM_000016.6(ACADM):c.131A>G (p.Gln44Arg) rs751647383 0.00006
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.250G>A (p.Val84Met) rs751283667 0.00006
NM_000017.4(ACADS):c.40C>G (p.Arg14Gly) rs542140065 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.624+11C>T rs763811046 0.00006
NM_000017.4(ACADS):c.668C>T (p.Thr223Met) rs143131689 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr) rs772322071 0.00006
NM_001985.3(ETFB):c.184A>G (p.Ile62Val) rs199705168 0.00006
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser) rs375326450 0.00006
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00006
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) rs757842479 0.00006
NM_000017.4(ACADS):c.1157G>A (p.Arg386His) rs766183395 0.00005
NM_000017.4(ACADS):c.58A>G (p.Arg20Gly) rs745510897 0.00005
NM_000126.4(ETFA):c.-7G>A rs779643894 0.00005
NM_004453.4(ETFDH):c.831+4T>C rs752971257 0.00005
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val) rs761854400 0.00005
NM_000016.6(ACADM):c.287-10G>C rs368875210 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000016.6(ACADM):c.57T>C (p.His19=) rs762984318 0.00004
NM_000017.4(ACADS):c.*10G>A rs761682729 0.00004
NM_000017.4(ACADS):c.*37C>T rs377080695 0.00004
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866 0.00004
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00004
NM_000017.4(ACADS):c.663G>T (p.Gly221=) rs751023929 0.00004
NM_000017.4(ACADS):c.775A>G (p.Met259Val) rs752079325 0.00004
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) rs146299082 0.00004
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser) rs374127169 0.00004
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly) rs986861899 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr) rs151108898 0.00004
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala) rs143568332 0.00004
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser) rs750230877 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln) rs771456968 0.00004
NM_004453.4(ETFDH):c.1690+4A>G rs752590057 0.00004
NM_004453.4(ETFDH):c.488-12A>C rs180889150 0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_000016.5(ACADM):c.-92A>G rs567983446 0.00003
NM_000016.6(ACADM):c.216+5G>T rs528788578 0.00003
NM_000016.6(ACADM):c.286G>C (p.Gly96Arg) rs886042055 0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val) rs750792245 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro) rs796051904 0.00003
NM_000017.4(ACADS):c.1086+5G>A rs776623770 0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.508G>T (p.Ala170Ser) rs765604622 0.00003
NM_000017.4(ACADS):c.700C>T (p.Arg234Trp) rs532174593 0.00003
NM_000017.4(ACADS):c.730G>A (p.Glu244Lys) rs551883820 0.00003
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr) rs1267288663 0.00003
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) rs201888260 0.00003
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp) rs758004001 0.00003
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231 0.00003
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly) rs202121622 0.00003
NM_000126.4(ETFA):c.883-3C>T rs772701864 0.00003
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys) rs750117869 0.00003
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr) rs548046212 0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) rs758509148 0.00003
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) rs920672041 0.00003
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu) rs200877363 0.00003
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) rs201823591 0.00003
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu) rs752947878 0.00003
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr) rs1340326448 0.00003
NM_000016.5(ACADM):c.-304A>G rs886046521 0.00002
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met) rs201809827 0.00002
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.393G>A (p.Met131Ile) rs368773005 0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) rs758111285 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000016.6(ACADM):c.927C>T (p.Phe309=) rs771550655 0.00002
NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser) rs145466253 0.00002
NM_000017.4(ACADS):c.1231C>T (p.Arg411Trp) rs369416846 0.00002
NM_000017.4(ACADS):c.161T>C (p.Phe54Ser) rs749775207 0.00002
NM_000017.4(ACADS):c.226G>A (p.Gly76Arg) rs774801839 0.00002
NM_000017.4(ACADS):c.497C>T (p.Ala166Val) rs1022406482 0.00002
NM_000017.4(ACADS):c.778G>T (p.Gly260Cys) rs759856061 0.00002
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr) rs199717731 0.00002
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys) rs780880209 0.00002
NM_000126.4(ETFA):c.919A>G (p.Ile307Val) rs373896010 0.00002
NM_000126.4(ETFA):c.964-1G>C rs757885420 0.00002
NM_000126.4(ETFA):c.967G>A (p.Val323Ile) rs1225887341 0.00002
NM_001985.3(ETFB):c.134C>T (p.Ala45Val) rs770414295 0.00002
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp) rs748730384 0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 0.00002
NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr) rs1255214567 0.00002
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp) rs763912783 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn) rs758859840 0.00002
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala) rs398124154 0.00002
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) rs182144074 0.00002
NM_000016.6(ACADM):c.*317C>T rs886046526 0.00001
NM_000016.6(ACADM):c.-50A>T rs753411141 0.00001
NM_000016.6(ACADM):c.1019C>T (p.Ala340Val) rs886042054 0.00001
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val) rs758973773 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.1194+3A>G rs369945009 0.00001
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val) rs1181589709 0.00001
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys) rs139686925 0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000016.6(ACADM):c.125C>T (p.Thr42Ile) rs759997176 0.00001
NM_000016.6(ACADM):c.206A>T (p.Lys69Ile) rs927784210 0.00001
NM_000016.6(ACADM):c.271_273del (p.Ile91del) rs1463718964 0.00001
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys) rs752612962 0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser) rs1647480996 0.00001
NM_000016.6(ACADM):c.56A>G (p.His19Arg) rs1446893994 0.00001
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser) rs1010454733 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg) rs753627680 0.00001
NM_000016.6(ACADM):c.667A>G (p.Ile223Val) rs747783631 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NM_000017.4(ACADS):c.*178C>T rs1309551400 0.00001
NM_000017.4(ACADS):c.1011C>G (p.Asn337Lys) rs200346345 0.00001
NM_000017.4(ACADS):c.1078A>G (p.Ser360Gly) rs528266975 0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135 0.00001
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) rs796051905 0.00001
NM_000017.4(ACADS):c.1117G>A (p.Val373Met) rs371934737 0.00001
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718 0.00001
NM_000017.4(ACADS):c.1135G>C (p.Glu379Gln) rs953436518 0.00001
NM_000017.4(ACADS):c.1148G>A (p.Arg383His) rs35233375 0.00001
NM_000017.4(ACADS):c.1169T>A (p.Ile390Asn) rs773646063 0.00001
NM_000017.4(ACADS):c.1207G>A (p.Ala403Thr) rs556890619 0.00001
NM_000017.4(ACADS):c.1209C>T (p.Ala403=) rs377069922 0.00001
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969 0.00001
NM_000017.4(ACADS):c.242C>T (p.Ala81Val) rs1883464095 0.00001
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser) rs121908005 0.00001
NM_000017.4(ACADS):c.304A>G (p.Met102Val) rs766216232 0.00001
NM_000017.4(ACADS):c.322G>A (p.Gly108Ser) rs117356004 0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.332C>T (p.Ser111Phe) rs747339462 0.00001
NM_000017.4(ACADS):c.336C>T (p.Thr112=) rs768784437 0.00001
NM_000017.4(ACADS):c.337G>A (p.Gly113Arg) rs781528570 0.00001
NM_000017.4(ACADS):c.422C>T (p.Thr141Met) rs767874760 0.00001
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg) rs148297461 0.00001
NM_000017.4(ACADS):c.449G>T (p.Gly150Val) rs1057524803 0.00001
NM_000017.4(ACADS):c.460C>T (p.Leu154Phe) rs368500899 0.00001
NM_000017.4(ACADS):c.466G>A (p.Glu156Lys) rs1883492972 0.00001
NM_000017.4(ACADS):c.473-9T>G rs751507296 0.00001
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly) rs755856935 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.602C>T (p.Thr201Met) rs151059234 0.00001
NM_000017.4(ACADS):c.65G>T (p.Trp22Leu) rs774970155 0.00001
NM_000017.4(ACADS):c.673G>C (p.Gly225Arg) rs1181743442 0.00001
NM_000017.4(ACADS):c.682G>A (p.Glu228Lys) rs755247580 0.00001
NM_000017.4(ACADS):c.68G>A (p.Arg23Gln) rs773600043 0.00001
NM_000017.4(ACADS):c.703G>C (p.Gly235Arg) rs770711544 0.00001
NM_000017.4(ACADS):c.739C>T (p.Arg247Cys) rs760389122 0.00001
NM_000017.4(ACADS):c.812G>T (p.Gly271Val) rs796051902 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 0.00001
NM_000017.4(ACADS):c.821G>A (p.Gly274Asp) rs772531600 0.00001
NM_000017.4(ACADS):c.842G>C (p.Gly281Ala) rs762083095 0.00001
NM_000017.4(ACADS):c.889C>T (p.Arg297Cys) rs747512252 0.00001
NM_000017.4(ACADS):c.906G>A (p.Ala302=) rs763162492 0.00001
NM_000017.4(ACADS):c.958G>T (p.Ala320Ser) rs777939247 0.00001
NM_000017.4(ACADS):c.981_983del (p.Thr328del) rs1347248007 0.00001
NM_000126.4(ETFA):c.-40G>A rs1057521597 0.00001
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu) rs201424632 0.00001
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser) rs1166705959 0.00001
NM_000126.4(ETFA):c.268+3G>A rs1160396237 0.00001
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918 0.00001
NM_000126.4(ETFA):c.321C>T (p.His107=) rs368550471 0.00001
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu) rs1323414196 0.00001
NM_000126.4(ETFA):c.39G>A (p.Ala13=) rs776956043 0.00001
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro) rs1398343360 0.00001
NM_000126.4(ETFA):c.506G>A (p.Arg169His) rs375660532 0.00001
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu) rs780998008 0.00001
NM_000126.4(ETFA):c.746G>A (p.Arg249His) rs886051488 0.00001
NM_000126.4(ETFA):c.759T>C (p.Asp253=) rs142970498 0.00001
NM_000126.4(ETFA):c.78T>C (p.Ala26=) rs773298687 0.00001
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp) rs772068605 0.00001
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu) rs778807824 0.00001
NM_000126.4(ETFA):c.932C>T (p.Ala311Val) rs1263820606 0.00001
NM_001985.3(ETFB):c.113T>C (p.Met38Thr) rs775541180 0.00001
NM_001985.3(ETFB):c.293G>A (p.Arg98His) rs761063406 0.00001
NM_001985.3(ETFB):c.438+5G>T rs1450691951 0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) rs772976948 0.00001
NM_001985.3(ETFB):c.572G>A (p.Arg191His) rs769951998 0.00001
NM_001985.3(ETFB):c.58-87A>C rs1986023015 0.00001
NM_001985.3(ETFB):c.597+6C>T rs539989327 0.00001
NM_001985.3(ETFB):c.645dup (p.Val216fs) rs1428088327 0.00001
NM_001985.3(ETFB):c.92C>T (p.Thr31Met) rs371751519 0.00001
NM_004453.4(ETFDH):c.-77C>G rs1296122115 0.00001
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr) rs770140708 0.00001
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg) rs1452265763 0.00001
NM_004453.4(ETFDH):c.1036C>T (p.His346Tyr) rs749456492 0.00001
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val) rs776428695 0.00001
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr) rs1774520171 0.00001
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser) rs574791445 0.00001
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053 0.00001
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala) rs760234838 0.00001
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu) rs763536356 0.00001
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His) rs750799644 0.00001
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro) rs1404615636 0.00001
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg) rs989125087 0.00001
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro) rs751839607 0.00001
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp) rs774810601 0.00001
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser) rs937646249 0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) rs754795292 0.00001
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=) rs1408118210 0.00001
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=) rs747312700 0.00001
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys) rs1279728239 0.00001
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln) rs768961719 0.00001
NM_004453.4(ETFDH):c.1678T>C (p.Phe560Leu) rs374585539 0.00001
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=) rs755342205 0.00001
NM_004453.4(ETFDH):c.1813G>T (p.Val605Leu) rs1774702955 0.00001
NM_004453.4(ETFDH):c.1823G>A (p.Gly608Asp) rs1303489545 0.00001
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln) rs765742496 0.00001
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys) rs1242099513 0.00001
NM_004453.4(ETFDH):c.257G>A (p.Arg86His) rs777655131 0.00001
NM_004453.4(ETFDH):c.414T>G (p.Leu138=) rs751256504 0.00001
NM_004453.4(ETFDH):c.472G>A (p.Val158Met) rs774614480 0.00001
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala) rs201067972 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile) rs999532162 0.00001
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr) rs1397900640 0.00001
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser) rs1448673327 0.00001
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr) rs371260517 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg) rs754082348 0.00001
NM_004453.4(ETFDH):c.843T>A (p.Ile281=) rs765239908 0.00001
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser) rs748958949 0.00001
NM_004453.4(ETFDH):c.937A>G (p.Asn313Asp) rs762031780 0.00001
NM_004453.4(ETFDH):c.940G>C (p.Glu314Gln) rs201579588 0.00001
NM_004453.4(ETFDH):c.950C>T (p.Pro317Leu) rs1394204740 0.00001
NC_000001.10:g.(?_76190473)_(76228448_?)dup
NC_000001.10:g.(?_76205645)_(76228448_?)dup
NC_000004.11:g.(?_159593609)_(159616815_?)dup
NC_000004.11:g.(?_159593609)_(159629679_?)dup
NC_000012.11:g.(?_121163689)_(121177251_?)dup
NC_000012.11:g.(?_121174769)_(121177271_?)del
NC_000012.12:g.(?_120725866)_(120727209_?)del
NC_000015.9:g.(?_76508900)_(76518290_?)del
NC_000015.9:g.(?_76508900)_(76603729_?)dup
NC_000015.9:g.(?_76518170)_(76518290_?)del
NC_000015.9:g.(?_76523654)_(76523759_?)del
NC_000015.9:g.(?_76603671)_(76603729_?)dup
NC_000019.9:g.(?_51848465)_(51856564_?)dup
NM_000016.5(ACADM):c.-169C>T rs886046522
NM_000016.5(ACADM):c.-342G>T rs886046520
NM_000016.5(ACADM):c.-375C>T rs886046519
NM_000016.6(ACADM):c.*177G>C rs1311764448
NM_000016.6(ACADM):c.*284C>T rs886046525
NM_000016.6(ACADM):c.*427T>A rs551943304
NM_000016.6(ACADM):c.*5delA
NM_000016.6(ACADM):c.*63dup rs1400150313
NM_000016.6(ACADM):c.*825del rs199923099
NM_000016.6(ACADM):c.-78G>C rs908019570
NM_000016.6(ACADM):c.1007G>A (p.Ser336Asn) rs794727013
NM_000016.6(ACADM):c.1012C>G (p.Gln338Glu) rs796051896
NM_000016.6(ACADM):c.101G>T (p.Gly34Val)
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr) rs1424545377
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.6(ACADM):c.1043G>A (p.Arg348His)
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.6(ACADM):c.1057T>G (p.Tyr353Asp) rs875989856
NM_000016.6(ACADM):c.1070C>G (p.Ala357Gly)
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met) rs988752772
NM_000016.6(ACADM):c.1075G>C (p.Ala359Pro) rs1224909875
NM_000016.6(ACADM):c.1087G>A (p.Asp363Asn) rs875989866
NM_000016.6(ACADM):c.10G>A (p.Gly4Arg)
NM_000016.6(ACADM):c.1103T>C (p.Leu368Ser) rs2100453501
NM_000016.6(ACADM):c.1117G>C (p.Val373Leu)
NM_000016.6(ACADM):c.1159G>C (p.Val387Leu) rs1057518630
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu) rs1648844304
NM_000016.6(ACADM):c.1184A>C (p.Lys395Thr) rs776312173
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.6(ACADM):c.119-12A>G
NM_000016.6(ACADM):c.1194+6G>A
NM_000016.6(ACADM):c.1197T>G (p.Ile399Met)
NM_000016.6(ACADM):c.11G>T (p.Gly4Val)
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val) rs1553127382
NM_000016.6(ACADM):c.120G>C (p.Glu40Asp)
NM_000016.6(ACADM):c.1211C>T (p.Ser404Leu)
NM_000016.6(ACADM):c.1217T>G (p.Ile406Ser)
NM_000016.6(ACADM):c.1249_1251del (p.Asp417del) rs1553127399
NM_000016.6(ACADM):c.1264T>G (p.Ter422Glu) rs1553127400
NM_000016.6(ACADM):c.139G>A (p.Glu47Lys) rs2100362559
NM_000016.6(ACADM):c.154_156del (p.Ala52del) rs2100362599
NM_000016.6(ACADM):c.15C>A (p.Phe5Leu) rs1024056446
NM_000016.6(ACADM):c.160A>C (p.Lys54Gln)
NM_000016.6(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.6(ACADM):c.17G>A (p.Gly6Glu)
NM_000016.6(ACADM):c.202G>A (p.Asp68Asn) rs2100362891
NM_000016.6(ACADM):c.206A>G (p.Lys69Arg) rs927784210
NM_000016.6(ACADM):c.212G>A (p.Gly71Asp) rs1553122943
NM_000016.6(ACADM):c.235AGA[1] (p.Arg80del) rs1553122972
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) rs1448376709
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr) rs1647171392
NM_000016.6(ACADM):c.265A>C (p.Thr89Pro) rs371194356
NM_000016.6(ACADM):c.286+6C>T
NM_000016.6(ACADM):c.289G>A (p.Gly97Ser) rs1553123053
NM_000016.6(ACADM):c.295G>A (p.Gly99Arg) rs875989858
NM_000016.6(ACADM):c.30+5G>C
NM_000016.6(ACADM):c.302G>A (p.Gly101Glu) rs875989862
NM_000016.6(ACADM):c.307T>C (p.Phe103Leu)
NM_000016.6(ACADM):c.31-12T>G
NM_000016.6(ACADM):c.31-13G>A
NM_000016.6(ACADM):c.31-5T>A
NM_000016.6(ACADM):c.327T>A (p.Ser109Arg) rs1647188135
NM_000016.6(ACADM):c.32T>C (p.Val11Ala)
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.351_352delinsCA (p.Gly118Arg) rs1553123069
NM_000016.6(ACADM):c.352G>T (p.Gly118Trp)
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) rs1647188699
NM_000016.6(ACADM):c.356T>A (p.Val119Asp) rs1553123077
NM_000016.6(ACADM):c.371A>G (p.Glu124Gly) rs759305231
NM_000016.6(ACADM):c.379T>C (p.Ser127Pro) rs1647189185
NM_000016.6(ACADM):c.380C>A (p.Ser127Tyr)
NM_000016.6(ACADM):c.382T>G (p.Leu128Val)
NM_000016.6(ACADM):c.385G>T (p.Gly129Trp) rs886042076
NM_000016.6(ACADM):c.387+2dup rs1553123086
NM_000016.6(ACADM):c.388-19T>A rs1553123252
NM_000016.6(ACADM):c.404T>C (p.Ile135Thr)
NM_000016.6(ACADM):c.455A>G (p.Glu152Gly)
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.468+11G>A
NM_000016.6(ACADM):c.468+3G>T
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp) rs1647214213
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys) rs1553123858
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) rs1260394550
NM_000016.6(ACADM):c.509C>A (p.Ala170Asp)
NM_000016.6(ACADM):c.510_527del (p.Gly171_Ala176del) rs1553123864
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.532A>C (p.Lys178Gln)
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000016.6(ACADM):c.539_541del (p.Gly180del) rs776120077
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.6(ACADM):c.564G>A (p.Gln188=) rs1647481720
NM_000016.6(ACADM):c.576A>G (p.Ile192Met) rs1647482271
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) rs1647485086
NM_000016.6(ACADM):c.595A>G (p.Asn199Asp) rs1468901075
NM_000016.6(ACADM):c.598T>C (p.Trp200Arg)
NM_000016.6(ACADM):c.602A>G (p.Tyr201Cys) rs875989871
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) rs983879715
NM_000016.6(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.6(ACADM):c.625C>G (p.Pro209Ala) rs765741682
NM_000016.6(ACADM):c.640C>G (p.Pro214Ala) rs1040699870
NM_000016.6(ACADM):c.643G>C (p.Ala215Pro)
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp)
NM_000016.6(ACADM):c.656T>G (p.Phe219Cys) rs2100408210
NM_000016.6(ACADM):c.694C>G (p.Gln232Glu) rs2100408490
NM_000016.6(ACADM):c.708+3A>G rs2100408597
NM_000016.6(ACADM):c.708+6G>A rs958629659
NM_000016.6(ACADM):c.708+6G>T rs958629659
NM_000016.6(ACADM):c.719T>C (p.Met240Thr)
NM_000016.6(ACADM):c.71A>G (p.His24Arg)
NM_000016.6(ACADM):c.725A>G (p.Gln242Arg)
NM_000016.6(ACADM):c.746G>A (p.Gly249Glu) rs1648077584
NM_000016.6(ACADM):c.751G>A (p.Val251Ile)
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.6(ACADM):c.76_78dup (p.Lys26dup) rs760137614
NM_000016.6(ACADM):c.773C>T (p.Pro258Leu) rs1022879056
NM_000016.6(ACADM):c.775A>G (p.Lys259Glu)
NM_000016.6(ACADM):c.77A>C (p.Lys26Thr) rs2100347143
NM_000016.6(ACADM):c.785T>A (p.Val262Asp) rs1489192992
NM_000016.6(ACADM):c.806G>A (p.Gly269Asp)
NM_000016.6(ACADM):c.813A>C (p.Lys271Asn)
NM_000016.6(ACADM):c.839C>G (p.Thr280Ser)
NM_000016.6(ACADM):c.83A>G (p.Asn28Ser)
NM_000016.6(ACADM):c.850-3_850-2insTAAAAT rs1553125391
NM_000016.6(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA rs1553125389
NM_000016.6(ACADM):c.863_865dup (p.Ala288_Val289insAla)
NM_000016.6(ACADM):c.865G>T (p.Val289Phe) rs1648137997
NM_000016.6(ACADM):c.866T>C (p.Val289Ala) rs1057520215
NM_000016.6(ACADM):c.87A>G (p.Arg29=) rs2100347177
NM_000016.6(ACADM):c.881_882delinsTT (p.Arg294Ile)
NM_000016.6(ACADM):c.891T>A (p.Asp297Glu)
NM_000016.6(ACADM):c.893_898del (p.Glu298_Thr300delinsAla)
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr) rs875989855
NM_000016.6(ACADM):c.927C>G (p.Phe309Leu) rs771550655
NM_000016.6(ACADM):c.946-2dup rs1648822448
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000016.6(ACADM):c.947A>T (p.His316Leu)
NM_000016.6(ACADM):c.955A>G (p.Ile319Val)
NM_000016.6(ACADM):c.98C>G (p.Pro33Arg)
NM_000017.2(ACADS):c.*573G>C rs17848081
NM_000017.4(ACADS):c.*162C>T rs1273364186
NM_000017.4(ACADS):c.*174G>C rs886049032
NM_000017.4(ACADS):c.*235C>T rs1883596141
NM_000017.4(ACADS):c.*305C>A rs550652942
NM_000017.4(ACADS):c.*86C>T rs374762327
NM_000017.4(ACADS):c.*91G>T rs886049031
NM_000017.4(ACADS):c.-56C>T rs567626964
NM_000017.4(ACADS):c.1025T>C (p.Ile342Thr)
NM_000017.4(ACADS):c.1028A>G (p.Lys343Arg) rs1883556301
NM_000017.4(ACADS):c.1030-3_1044dup rs1883566976
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.1064C>T (p.Ala355Val) rs770439736
NM_000017.4(ACADS):c.1066G>A (p.Ala356Thr) rs768733898
NM_000017.4(ACADS):c.1067C>T (p.Ala356Val) rs1378527596
NM_000017.4(ACADS):c.1072G>T (p.Ala358Ser)
NM_000017.4(ACADS):c.1077C>G (p.Ile359Met)
NM_000017.4(ACADS):c.1084C>G (p.Gln362Glu) rs541587321
NM_000017.4(ACADS):c.1102G>A (p.Gly368Ser) rs1433674196
NM_000017.4(ACADS):c.1112G>C (p.Gly371Ala)
NM_000017.4(ACADS):c.1141C>A (p.His381Asn) rs1219162519
NM_000017.4(ACADS):c.1146C>A (p.Tyr382Ter) rs1555244413
NM_000017.4(ACADS):c.1148G>T (p.Arg383Leu) rs35233375
NM_000017.4(ACADS):c.1153G>A (p.Ala385Thr) rs202124189
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.1182del (p.Ser395fs) rs1555244432
NM_000017.4(ACADS):c.1186G>A (p.Glu396Lys)
NM_000017.4(ACADS):c.1195C>T (p.Arg399Trp) rs375931905
NM_000017.4(ACADS):c.1213del (p.His405fs) rs1555244455
NM_000017.4(ACADS):c.1226G>C (p.Ser409Thr)
NM_000017.4(ACADS):c.151_153del (p.Lys51del)
NM_000017.4(ACADS):c.152A>G (p.Lys51Arg)
NM_000017.4(ACADS):c.157T>G (p.Leu53Val) rs1883110478
NM_000017.4(ACADS):c.170C>T (p.Ala57Val)
NM_000017.4(ACADS):c.189A>T (p.Glu63Asp)
NM_000017.4(ACADS):c.193C>A (p.Leu65Ile) rs377388400
NM_000017.4(ACADS):c.203C>T (p.Ala68Val) rs148789330
NM_000017.4(ACADS):c.215A>G (p.Lys72Arg)
NM_000017.4(ACADS):c.215AGA[1] (p.Lys73del) rs1883462118
NM_000017.4(ACADS):c.222G>A (p.Met74Ile)
NM_000017.4(ACADS):c.226G>T (p.Gly76Trp)
NM_000017.4(ACADS):c.244A>C (p.Met82Leu)
NM_000017.4(ACADS):c.259G>A (p.Glu87Lys)
NM_000017.4(ACADS):c.277C>A (p.Leu93Ile) rs1358146160
NM_000017.4(ACADS):c.280G>A (p.Asp94Asn) rs772604031
NM_000017.4(ACADS):c.295G>A (p.Ala99Thr)
NM_000017.4(ACADS):c.298A>G (p.Ile100Val)
NM_000017.4(ACADS):c.301G>A (p.Ala101Thr)
NM_000017.4(ACADS):c.314T>A (p.Ile105Asn) rs1035363801
NM_000017.4(ACADS):c.320_321inv (p.Arg107His)
NM_000017.4(ACADS):c.321_322inv (p.Gly108Ser)
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) rs387906951
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.347T>C (p.Met116Thr)
NM_000017.4(ACADS):c.352G>A (p.Val118Ile)
NM_000017.4(ACADS):c.359A>G (p.Asn120Ser)
NM_000017.4(ACADS):c.360+49C>T
NM_000017.4(ACADS):c.360+6C>G
NM_000017.4(ACADS):c.361-14C>A
NM_000017.4(ACADS):c.364C>T (p.Leu122Phe) rs1555243946
NM_000017.4(ACADS):c.380T>C (p.Ile127Thr) rs1555243949
NM_000017.4(ACADS):c.38C>T (p.Ala13Val)
NM_000017.4(ACADS):c.431C>T (p.Thr144Ile) rs764413160
NM_000017.4(ACADS):c.43A>G (p.Arg15Gly) rs1338857285
NM_000017.4(ACADS):c.460_461insAAC (p.Ala153_Leu154insGln) rs1555243966
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg) rs1057523592
NM_000017.4(ACADS):c.463_465dup (p.Ser155dup) rs1555243967
NM_000017.4(ACADS):c.47-6C>A rs749023748
NM_000017.4(ACADS):c.473-5G>A rs2136949081
NM_000017.4(ACADS):c.477C>A (p.Asn159Lys)
NM_000017.4(ACADS):c.478G>A (p.Gly160Ser)
NM_000017.4(ACADS):c.494C>T (p.Ala165Val)
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000017.4(ACADS):c.508G>A (p.Ala170Thr) rs765604622
NM_000017.4(ACADS):c.516C>T (p.Ala172=) rs531683812
NM_000017.4(ACADS):c.542G>A (p.Gly181Glu) rs2136949225
NM_000017.4(ACADS):c.552C>T (p.Ala184=) rs886049030
NM_000017.4(ACADS):c.557T>A (p.Ile186Asn)
NM_000017.4(ACADS):c.610G>C (p.Ala204Pro)
NM_000017.4(ACADS):c.620A>G (p.Asn207Ser)
NM_000017.4(ACADS):c.624+5G>A rs2136949319
NM_000017.4(ACADS):c.625-3C>T
NM_000017.4(ACADS):c.654_655delinsCT (p.Thr219Ser) rs1883526461
NM_000017.4(ACADS):c.674G>A (p.Gly225Glu) rs2136949808
NM_000017.4(ACADS):c.67C>T (p.Arg23Trp) rs770222581
NM_000017.4(ACADS):c.683A>C (p.Glu228Ala)
NM_000017.4(ACADS):c.68G>C (p.Arg23Pro)
NM_000017.4(ACADS):c.691C>G (p.Leu231Val)
NM_000017.4(ACADS):c.712A>G (p.Thr238Ala) rs2136949858
NM_000017.4(ACADS):c.740G>T (p.Arg247Leu)
NM_000017.4(ACADS):c.760C>G (p.Leu254Val) rs979775355
NM_000017.4(ACADS):c.773G>A (p.Gly258Glu) rs2136949926
NM_000017.4(ACADS):c.795+4A>G
NM_000017.4(ACADS):c.796-11G>A
NM_000017.4(ACADS):c.796C>G (p.Gln266Glu)
NM_000017.4(ACADS):c.80C>T (p.Thr27Ile)
NM_000017.4(ACADS):c.817A>G (p.Ile273Val)
NM_000017.4(ACADS):c.823A>T (p.Ile275Phe) rs1883539190
NM_000017.4(ACADS):c.842G>T (p.Gly281Val)
NM_000017.4(ACADS):c.848C>T (p.Ala283Val) rs758290381
NM_000017.4(ACADS):c.856G>A (p.Ala286Thr) rs781119134
NM_000017.4(ACADS):c.859C>T (p.Leu287Phe) rs1373305585
NM_000017.4(ACADS):c.862G>T (p.Asp288Tyr)
NM_000017.4(ACADS):c.868G>C (p.Ala290Pro) rs777181213
NM_000017.4(ACADS):c.86A>G (p.Tyr29Cys)
NM_000017.4(ACADS):c.910C>T (p.Leu304Phe)
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.933+5T>C
NM_000017.4(ACADS):c.945_953del (p.Asp316_Ala318del) rs1555244266
NM_000017.4(ACADS):c.949_954dup (p.Met317_Ala318dup) rs1555244270
NM_000017.4(ACADS):c.94G>A (p.Val32Met)
NM_000017.4(ACADS):c.962_973del (p.Leu321_Ala324del) rs1373044759
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280
NM_000017.4(ACADS):c.989_990delinsTT (p.Arg330Leu)
NM_000017.4(ACADS):c.995C>T (p.Ala332Val) rs1555244290
NM_000126.4(ETFA):c.*55C>G rs886051487
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)
NM_000126.4(ETFA):c.-42C>T rs546128998
NM_000126.4(ETFA):c.-71T>G rs116149551
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)
NM_000126.4(ETFA):c.163G>A (p.Val55Ile) rs1035217923
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
NM_000126.4(ETFA):c.187-3T>C
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr) rs2039778846
NM_000126.4(ETFA):c.242A>C (p.His81Pro)
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro) rs1400343293
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser) rs2039778041
NM_000126.4(ETFA):c.269-8A>G rs1440046169
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
NM_000126.4(ETFA):c.300G>T (p.Gln100His) rs948361766
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn) rs1414148078
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)
NM_000126.4(ETFA):c.351+12G>A rs2039773989
NM_000126.4(ETFA):c.351+9G>A rs2039774067
NM_000126.4(ETFA):c.366A>G (p.Arg122=) rs2039718120
NM_000126.4(ETFA):c.367G>A (p.Val123Ile) rs886051489
NM_000126.4(ETFA):c.36G>A (p.Arg12=) rs1299355915
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) rs910012804
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser) rs755055339
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro) rs1286837897
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile) rs199597352
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala) rs1396125343
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg) rs2141531541
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln) rs2141530756
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly) rs199763682
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg) rs1596224387
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
NM_000126.4(ETFA):c.66C>T (p.Thr22=) rs370375322
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg) rs1390694827
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr) rs2141528171
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys) rs1353938548
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
NM_000126.4(ETFA):c.77C>T (p.Ala26Val) rs1389901296
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys) rs2141543849
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln) rs1184566559
NM_000126.4(ETFA):c.882+10C>T rs2039064081
NM_000126.4(ETFA):c.882+3A>G
NM_000126.4(ETFA):c.882+6T>G rs746311782
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp) rs2039810890
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro) rs2141564581
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
NM_000126.4(ETFA):c.946G>C (p.Val316Leu) rs1567195832
NM_000126.4(ETFA):c.946G>T (p.Val316Phe) rs1567195832
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys) rs2038898400
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser) rs746082442
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu)
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly)
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln)
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)
NM_001985.3(ETFB):c.22G>A (p.Val8Ile) rs531136177
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr) rs1352787179
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)
NM_001985.3(ETFB):c.257G>T (p.Gly86Val)
NM_001985.3(ETFB):c.259A>G (p.Ile87Val) rs2123587270
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp)
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)
NM_001985.3(ETFB):c.343_345del (p.Glu115del)
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)
NM_001985.3(ETFB):c.375+6T>G
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)
NM_001985.3(ETFB):c.438+4A>G
NM_001985.3(ETFB):c.438+5G>A
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn)
NM_001985.3(ETFB):c.499G>C (p.Asp167His) rs140614695
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser)
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly) rs755539437
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)
NM_001985.3(ETFB):c.52G>T (p.Val18Leu)
NM_001985.3(ETFB):c.53T>G (p.Val18Gly)
NM_001985.3(ETFB):c.58-196_58-194del rs768440463
NM_001985.3(ETFB):c.58-27C>T
NM_001985.3(ETFB):c.58-57dup rs74357706
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp) rs747411704
NM_001985.3(ETFB):c.598-3C>T
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del) rs767519060
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)
NM_001985.3(ETFB):c.622G>A (p.Val208Met)
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln) rs369216610
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser)
NM_001985.3(ETFB):c.632C>A (p.Pro211His) rs760907327
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys) rs2123567525
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys) rs761714465
NM_001985.3(ETFB):c.706G>C (p.Gly236Arg)
NM_001985.3(ETFB):c.715G>A (p.Val239Met)
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp) rs370522844
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)
NM_004453.3(ETFDH):c.-174A>G rs886059193
NM_004453.4(ETFDH):c.*67T>G rs1774708906
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr)
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg)
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala)
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn) rs2150312268
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala) rs2150312279
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser)
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1108G>A (p.Gly370Ser) rs1774393063
NM_004453.4(ETFDH):c.1116+2T>C rs1561247874
NM_004453.4(ETFDH):c.1116+6T>C rs1561247878
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1116G>C (p.Gln372His)
NM_004453.4(ETFDH):c.1117-11T>C rs917132143
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro) rs1774518301
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe) rs1774518388
NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val)
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser) rs2126309213
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys)
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser)
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile)
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr)
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=) rs1284823413
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg)
NM_004453.4(ETFDH):c.1286-13T>C
NM_004453.4(ETFDH):c.1286-15T>A rs1248795834
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn)
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln) rs1431935282
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val) rs766776740
NM_004453.4(ETFDH):c.1360A>T (p.Ile454Leu) rs766776740
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr) rs2126314946
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val)
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu) rs1774612717
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala) rs924962456
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=) rs1774613217
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met) rs2126315307
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr) rs1774615246
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys) rs1774615624
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=) rs143873407
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro) rs1774616683
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu)
NM_004453.4(ETFDH):c.1469-8T>C rs1774625470
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe)
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His) rs1445646586
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr)
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn) rs2150304401
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) rs533097197
NM_004453.4(ETFDH):c.1573A>C (p.Ser525Arg)
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp)
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys) rs2126316568
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val)
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn)
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr)
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg)
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu)
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr)
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu) rs2126316873
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu)
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu)
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser) rs867281765
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg) rs760578708
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg) rs749989069
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu)
NM_004453.4(ETFDH):c.1759G>A (p.Val587Ile)
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu)
NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr)
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup) rs1774700761
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn)
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His)
NM_004453.4(ETFDH):c.1802T>A (p.Ile601Asn)
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr) rs1292587000
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser)
NM_004453.4(ETFDH):c.1840T>A (p.Tyr614Asn)
NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu) rs765742496
NM_004453.4(ETFDH):c.191G>C (p.Arg64Thr)
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile)
NM_004453.4(ETFDH):c.235G>A (p.Ala79Thr)
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) rs1175266968
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser)
NM_004453.4(ETFDH):c.271G>T (p.Ala91Ser) rs1208091864
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp) rs1773880547
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly) rs1580396806
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)
NM_004453.4(ETFDH):c.334C>A (p.His112Asn) rs1773883564
NM_004453.4(ETFDH):c.34+5G>A
NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr)
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro) rs763106795
NM_004453.4(ETFDH):c.35-3C>A rs1554031296
NM_004453.4(ETFDH):c.352T>G (p.Cys118Gly) rs2150305281
NM_004453.4(ETFDH):c.353G>T (p.Cys118Phe) rs1467428857
NM_004453.4(ETFDH):c.358G>C (p.Asp120His)
NM_004453.4(ETFDH):c.359A>G (p.Asp120Gly) rs1773885189
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu)
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys) rs1773885660
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser) rs985343342
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.405G>A (p.Gly135=)
NM_004453.4(ETFDH):c.410C>T (p.Pro137Leu)
NM_004453.4(ETFDH):c.42G>C (p.Gln14His)
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser)
NM_004453.4(ETFDH):c.444A>C (p.Gly148=) rs1773954457
NM_004453.4(ETFDH):c.454G>C (p.Glu152Gln) rs2150306318
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile)
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu) rs1773956133
NM_004453.4(ETFDH):c.488-9T>C rs1554031705
NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp)
NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser) rs1773969792
NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg)
NM_004453.4(ETFDH):c.549G>A (p.Met183Ile)
NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys)
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) rs369912835
NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro) rs1255103931
NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr)
NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln) rs2150306642
NM_004453.4(ETFDH):c.606+10GTTTT[2] rs745580994
NM_004453.4(ETFDH):c.608T>C (p.Val203Ala)
NM_004453.4(ETFDH):c.617A>C (p.His206Pro)
NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe) rs780991832
NM_004453.4(ETFDH):c.638G>C (p.Gly213Ala)
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.642T>G (p.Ile214Met) rs201049444
NM_004453.4(ETFDH):c.655G>A (p.Val219Ile)
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys) rs1580406086
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro) rs1482632936
NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly)
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg) rs1032041993
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg) rs1580411844
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val)
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) rs1450977775
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu) rs1580411897
NM_004453.4(ETFDH):c.807A>C (p.Gln269His) rs1265381182
NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr)
NM_004453.4(ETFDH):c.831+6C>T
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg) rs1774343332
NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp)
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val) rs1218671512
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val)
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys)
NM_004453.4(ETFDH):c.948A>G (p.Glu316=) rs1774347347
NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile) rs763002171
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro) rs1464356117
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu) rs1774348680
NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly)
NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu)

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