ClinVar Miner

List of variants in gene ETFDH studied for Multiple acyl-CoA dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 896
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_004453.4(ETFDH):c.606+1791G>A rs12644851 0.37958
NM_004453.4(ETFDH):c.973-104A>C rs7679753 0.34747
NM_004453.4(ETFDH):c.*135A>C rs17843966 0.21115
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_004453.3(ETFDH):c.-239G>A rs113981461 0.01253
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103
NM_004453.4(ETFDH):c.-97G>A rs183609368 0.00099
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) rs142475999 0.00084
NM_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_004453.4(ETFDH):c.627T>C (p.Gly209=) rs148708761 0.00063
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698 0.00050
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_004453.4(ETFDH):c.-61C>T rs377679439 0.00033
NM_004453.4(ETFDH):c.441T>C (p.Phe147=) rs138149265 0.00028
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=) rs143873407 0.00025
NM_004453.4(ETFDH):c.*53del rs753793193 0.00024
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln) rs150105001 0.00023
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942 0.00019
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=) rs150020458 0.00017
NM_004453.4(ETFDH):c.1479T>C (p.Phe493=) rs1423401867 0.00015
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_004453.4(ETFDH):c.972+13C>T rs199589412 0.00015
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697 0.00014
NM_004453.3(ETFDH):c.-315G>A rs886059192 0.00011
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg) rs200611086 0.00011
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_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
NM_004453.4(ETFDH):c.1764T>C (p.His588=) rs141180629 0.00009
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_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_004453.4(ETFDH):c.1690+20C>T rs376588328 0.00006
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) rs757842479 0.00006
NM_004453.4(ETFDH):c.846T>C (p.Asp282=) rs371927583 0.00006
NM_004453.4(ETFDH):c.882T>C (p.Thr294=) rs770579929 0.00006
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr) rs764164607 0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_004453.4(ETFDH):c.35-15G>A rs529832630 0.00005
NM_004453.4(ETFDH):c.678A>G (p.Ala226=) rs372865586 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_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) rs558005496 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.1657T>C (p.Tyr553His) rs182913453 0.00004
NM_004453.4(ETFDH):c.1659T>C (p.Tyr553=) rs1333454413 0.00004
NM_004453.4(ETFDH):c.1690+4A>G rs752590057 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.285A>G (p.Glu95=) rs201268972 0.00004
NM_004453.4(ETFDH):c.406-1G>A rs750189181 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_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 0.00003
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) rs201823591 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_004453.4(ETFDH):c.1468+12_1468+13del rs769120603 0.00003
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu) rs752947878 0.00003
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=) rs566844923 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_004453.4(ETFDH):c.405+3A>T rs796051965 0.00003
NM_004453.4(ETFDH):c.606+14T>C rs139113830 0.00003
NM_004453.4(ETFDH):c.642T>C (p.Ile214=) rs201049444 0.00003
NM_004453.4(ETFDH):c.651C>T (p.Asn217=) rs562079045 0.00003
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr) rs1340326448 0.00003
NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr) rs1255214567 0.00002
NM_004453.4(ETFDH):c.1371C>G (p.Ser457=) rs749280294 0.00002
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp) rs763912783 0.00002
NM_004453.4(ETFDH):c.176-7C>T rs776816664 0.00002
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) rs761669036 0.00002
NM_004453.4(ETFDH):c.474G>A (p.Val158=) rs1350126940 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_004453.4(ETFDH):c.558A>G (p.Gln186=) rs143688210 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_004453.4(ETFDH):c.972+8A>G rs778686663 0.00002
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.1019T>A (p.Phe340Tyr) rs1131691336 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.1083C>T (p.Tyr361=) rs765063539 0.00001
NM_004453.4(ETFDH):c.108T>G (p.Thr36=) rs140731939 0.00001
NM_004453.4(ETFDH):c.1107T>C (p.Gly369=) rs781782240 0.00001
NM_004453.4(ETFDH):c.1116+10C>T rs1417738324 0.00001
NM_004453.4(ETFDH):c.1117-4T>C rs940742984 0.00001
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr) rs1774520171 0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471 0.00001
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) rs773668457 0.00001
NM_004453.4(ETFDH):c.1233A>C (p.Ala411=) rs772194053 0.00001
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser) rs574791445 0.00001
NM_004453.4(ETFDH):c.1285+1G>A rs767046886 0.00001
NM_004453.4(ETFDH):c.1286-16A>G rs1163678059 0.00001
NM_004453.4(ETFDH):c.1286-8A>T rs1054882235 0.00001
NM_004453.4(ETFDH):c.1290C>G (p.Leu430=) rs770765347 0.00001
NM_004453.4(ETFDH):c.1293T>C (p.His431=) rs745559526 0.00001
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053 0.00001
NM_004453.4(ETFDH):c.1326A>T (p.Ser442=) rs1188056766 0.00001
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala) rs760234838 0.00001
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg) rs1156517377 0.00001
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu) rs763536356 0.00001
NM_004453.4(ETFDH):c.1344A>G (p.Leu448=) rs765652548 0.00001
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His) rs750799644 0.00001
NM_004453.4(ETFDH):c.1368G>A (p.Pro456=) rs781354386 0.00001
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro) rs1404615636 0.00001
NM_004453.4(ETFDH):c.1377C>T (p.His459=) rs1243627865 0.00001
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg) rs989125087 0.00001
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg) rs1174882036 0.00001
NM_004453.4(ETFDH):c.1432T>C (p.Leu478=) rs1774615019 0.00001
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro) rs751839607 0.00001
NM_004453.4(ETFDH):c.1468+8A>G rs755214741 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.1506C>T (p.Cys502=) rs1405831535 0.00001
NM_004453.4(ETFDH):c.1512T>C (p.Pro504=) rs940960964 0.00001
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp) rs187248590 0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) rs754795292 0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510 0.00001
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=) rs1408118210 0.00001
NM_004453.4(ETFDH):c.1665G>A (p.Gly555=) rs1305282556 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.1690+1G>T rs917285990 0.00001
NM_004453.4(ETFDH):c.169T>C (p.Trp57Arg) rs1773829495 0.00001
NM_004453.4(ETFDH):c.1734G>A (p.Arg578=) rs761505388 0.00001
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=) rs755342205 0.00001
NM_004453.4(ETFDH):c.176-2A>T rs1485038306 0.00001
NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn) rs1165102742 0.00001
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter) rs796051960 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.219A>T (p.Ile73=) rs1297866480 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.267G>A (p.Gln89=) rs1773880095 0.00001
NM_004453.4(ETFDH):c.27C>T (p.Ser9=) rs746903871 0.00001
NM_004453.4(ETFDH):c.296G>A (p.Arg99His) rs376630579 0.00001
NM_004453.4(ETFDH):c.34+7G>A rs1436016069 0.00001
NM_004453.4(ETFDH):c.342C>T (p.Leu114=) rs770193214 0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273 0.00001
NM_004453.4(ETFDH):c.350C>A (p.Ala117Asp) rs1773884764 0.00001
NM_004453.4(ETFDH):c.363A>G (p.Pro121=) rs1773885365 0.00001
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val) rs199899494 0.00001
NM_004453.4(ETFDH):c.399G>A (p.Glu133=) rs1319398122 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004453.4(ETFDH):c.414T>G (p.Leu138=) rs751256504 0.00001
NM_004453.4(ETFDH):c.459A>G (p.Lys153=) rs749702132 0.00001
NM_004453.4(ETFDH):c.472G>A (p.Val158Met) rs774614480 0.00001
NM_004453.4(ETFDH):c.507T>C (p.His169=) rs772286040 0.00001
NM_004453.4(ETFDH):c.552C>T (p.Gly184=) rs752262349 0.00001
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala) rs201067972 0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) rs748289922 0.00001
NM_004453.4(ETFDH):c.654T>C (p.Asp218=) rs1241684347 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.738A>G (p.Glu246=) rs1212314821 0.00001
NM_004453.4(ETFDH):c.768A>G (p.Leu256=) rs1481843055 0.00001
NM_004453.4(ETFDH):c.777G>A (p.Lys259=) rs1365101415 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.832-19T>G rs775057755 0.00001
NM_004453.4(ETFDH):c.832-5T>C rs768022965 0.00001
NM_004453.4(ETFDH):c.832-8T>A rs912481593 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.84A>G (p.Leu28=) rs1053865022 0.00001
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter) rs1235904433 0.00001
NM_004453.4(ETFDH):c.870A>G (p.Arg290=) rs752487495 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
NM_004453.4(ETFDH):c.969T>G (p.Leu323=) rs753462513 0.00001
NC_000004.11:g.(?_159593534)_(159629689_?)del
NC_000004.11:g.(?_159593609)_(159603596_?)del
NC_000004.11:g.(?_159593609)_(159611597_?)del
NC_000004.11:g.(?_159593609)_(159616815_?)dup
NC_000004.11:g.(?_159593609)_(159629679_?)dup
NC_000004.11:g.(?_159601599)_(159620302_?)dup
NC_000004.11:g.(?_159601609)_(159606381_?)dup
NC_000004.11:g.(?_159601609)_(159620292_?)dup
NC_000004.11:g.(?_159605724)_(159611597_?)del
NC_000004.11:g.(?_159606119)_(159616730_?)del
NC_000004.11:g.(?_159611480)_(159620302_?)del
NC_000004.11:g.(?_159616098)_(159618829_?)del
NM_004453.3(ETFDH):c.-174A>G rs886059193
NM_004453.3(ETFDH):c.[1367C>T];[1487T>C]
NM_004453.4(ETFDH):c.*67T>G rs1774708906
NM_004453.4(ETFDH):c.1001T>G (p.Leu334Arg) rs377686388
NM_004453.4(ETFDH):c.1002G>C (p.Leu334=) rs1476673975
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr)
NM_004453.4(ETFDH):c.1011del (p.Phe337fs) rs757063739
NM_004453.4(ETFDH):c.1019del (p.Phe340fs)
NM_004453.4(ETFDH):c.1026G>A (p.Arg342=)
NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs)
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg)
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)
NM_004453.4(ETFDH):c.1050G>A (p.Arg350=)
NM_004453.4(ETFDH):c.1053A>T (p.Pro351=)
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala)
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn) rs2150312268
NM_004453.4(ETFDH):c.1056C>T (p.Thr352=) rs2150312272
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala) rs2150312279
NM_004453.4(ETFDH):c.1062del (p.Gly355fs) rs2150312280
NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg) rs2150312288
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys) rs796051959
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) rs2150312299
NM_004453.4(ETFDH):c.1083C>G (p.Tyr361Ter)
NM_004453.4(ETFDH):c.1089C>T (p.Ala363=) rs1774391973
NM_004453.4(ETFDH):c.1092A>G (p.Arg364=)
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser)
NM_004453.4(ETFDH):c.1095T>C (p.Ala365=) rs1774392244
NM_004453.4(ETFDH):c.1098C>T (p.Leu366=) rs1245353864
NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp) rs2150312312
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+13A>G
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.1117-19T>G
NM_004453.4(ETFDH):c.1117-1G>A rs1774518252
NM_004453.4(ETFDH):c.1117-20C>G
NM_004453.4(ETFDH):c.1117-2A>G
NM_004453.4(ETFDH):c.1117-9T>C
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.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1134del (p.Pro380fs) rs1369800014
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs) rs2126309189
NM_004453.4(ETFDH):c.1140T>G (p.Pro380=) rs2126309197
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004453.4(ETFDH):c.1142G>A (p.Gly381Asp)
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser) rs2126309213
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys)
NM_004453.4(ETFDH):c.114T>C (p.Thr38=)
NM_004453.4(ETFDH):c.1152A>G (p.Leu384=)
NM_004453.4(ETFDH):c.1155T>C (p.Ile385=) rs2126309228
NM_004453.4(ETFDH):c.1166del (p.Pro389fs)
NM_004453.4(ETFDH):c.1169del (p.Gly390fs) rs1774519872
NM_004453.4(ETFDH):c.1170T>C (p.Gly390=)
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)
NM_004453.4(ETFDH):c.117G>A (p.Val39=) rs2150304380
NM_004453.4(ETFDH):c.1182T>G (p.Val394=) rs1230662616
NM_004453.4(ETFDH):c.1197T>G (p.Gly399=) rs2126309283
NM_004453.4(ETFDH):c.119del (p.Pro40fs)
NM_004453.4(ETFDH):c.1203C>T (p.His401=)
NM_004453.4(ETFDH):c.1209A>C (p.Ala403=) rs1198347315
NM_004453.4(ETFDH):c.1209A>G (p.Ala403=)
NM_004453.4(ETFDH):c.1210A>C (p.Met404Leu)
NM_004453.4(ETFDH):c.1210A>T (p.Met404Leu)
NM_004453.4(ETFDH):c.1214A>G (p.Lys405Arg)
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe) rs1200031596
NM_004453.4(ETFDH):c.1239T>C (p.Ser413=)
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser)
NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter)
NM_004453.4(ETFDH):c.1252C>T (p.Leu418=) rs769904185
NM_004453.4(ETFDH):c.1253_1254insTT (p.Leu418_Thr419insTer)
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs) rs1480647123
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile)
NM_004453.4(ETFDH):c.1257T>A (p.Thr419=)
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr)
NM_004453.4(ETFDH):c.1260dup (p.Glu421Ter)
NM_004453.4(ETFDH):c.1269C>G (p.Leu423=)
NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter)
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=) rs1284823413
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs)
NM_004453.4(ETFDH):c.1285+14G>A
NM_004453.4(ETFDH):c.1285+16G>A
NM_004453.4(ETFDH):c.1285+17T>C
NM_004453.4(ETFDH):c.1285+2T>G rs2126309523
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg)
NM_004453.4(ETFDH):c.1286-10T>C rs2126314578
NM_004453.4(ETFDH):c.1286-12T>C
NM_004453.4(ETFDH):c.1286-13T>C
NM_004453.4(ETFDH):c.1286-15T>A rs1248795834
NM_004453.4(ETFDH):c.1286-15T>C
NM_004453.4(ETFDH):c.1286-20T>C
NM_004453.4(ETFDH):c.129T>C (p.Thr43=)
NM_004453.4(ETFDH):c.1303dup (p.Tyr435fs)
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn)
NM_004453.4(ETFDH):c.1315T>C (p.Leu439=) rs1580422521
NM_004453.4(ETFDH):c.1323C>T (p.Asn441=) rs1580422538
NM_004453.4(ETFDH):c.1332A>G (p.Val444=)
NM_004453.4(ETFDH):c.1335G>C (p.Trp445Cys)
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln) rs1431935282
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter) rs2126314844
NM_004453.4(ETFDH):c.1349_1350del (p.Ser450fs)
NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly) rs1580422659
NM_004453.4(ETFDH):c.1355_1358del (p.Arg452fs)
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.1361dup (p.Arg455fs)
NM_004453.4(ETFDH):c.1365A>G (p.Arg455=) rs1580422667
NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala) rs751821289
NM_004453.4(ETFDH):c.1368_1371del (p.Ser457fs)
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter) rs1580422708
NM_004453.4(ETFDH):c.1375del (p.His459fs) rs1774610957
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter) rs989125087
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val)
NM_004453.4(ETFDH):c.1386G>T (p.Leu462=)
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1389T>A (p.Gly463=)
NM_004453.4(ETFDH):c.1394_1395del (p.Tyr465fs)
NM_004453.4(ETFDH):c.1395T>C (p.Tyr465=)
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter) rs745714733
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu) rs1774612717
NM_004453.4(ETFDH):c.1398A>G (p.Gly466=) rs1400986353
NM_004453.4(ETFDH):c.1398A>T (p.Gly466=)
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala) rs924962456
NM_004453.4(ETFDH):c.1400G>A (p.Gly467Glu)
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=) rs1774613217
NM_004453.4(ETFDH):c.1415G>C (p.Gly472Ala) rs768181815
NM_004453.4(ETFDH):c.1416A>T (p.Gly472=)
NM_004453.4(ETFDH):c.1417dup (p.Ile473fs)
NM_004453.4(ETFDH):c.1427G>A (p.Trp476Ter)
NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter)
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met) rs2126315307
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter) rs2126315337
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr) rs1774615246
NM_004453.4(ETFDH):c.1437_1438del (p.Gly480fs)
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys) rs1774615624
NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs)
NM_004453.4(ETFDH):c.1448C>A (p.Pro483Gln)
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=) rs143873407
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg) rs1774616485
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro) rs1774616683
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)
NM_004453.4(ETFDH):c.1457dup (p.Lys487fs)
NM_004453.4(ETFDH):c.1461del (p.Lys487fs)
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs) rs2126315444
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu)
NM_004453.4(ETFDH):c.1468+10A>G rs144205191
NM_004453.4(ETFDH):c.1468+10A>T rs144205191
NM_004453.4(ETFDH):c.1468+14G>A
NM_004453.4(ETFDH):c.1468+14G>C
NM_004453.4(ETFDH):c.1468+16G>A
NM_004453.4(ETFDH):c.1468+20G>A
NM_004453.4(ETFDH):c.1468+20G>C
NM_004453.4(ETFDH):c.1468+7C>T
NM_004453.4(ETFDH):c.1468+9A>G
NM_004453.4(ETFDH):c.1469-12A>C
NM_004453.4(ETFDH):c.1469-17C>T
NM_004453.4(ETFDH):c.1469-18C>T
NM_004453.4(ETFDH):c.1469-19T>G rs2126316001
NM_004453.4(ETFDH):c.1469-1G>A
NM_004453.4(ETFDH):c.1469-1G>T rs1561251640
NM_004453.4(ETFDH):c.1469-4G>A
NM_004453.4(ETFDH):c.1469-4dup
NM_004453.4(ETFDH):c.1469-7G>A
NM_004453.4(ETFDH):c.1469-7G>T
NM_004453.4(ETFDH):c.1469-8T>C rs1774625470
NM_004453.4(ETFDH):c.1471_1473delinsCAAAAGCC (p.Ser491fs)
NM_004453.4(ETFDH):c.1471dup (p.Ser491fs)
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe)
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)
NM_004453.4(ETFDH):c.1485G>A (p.Arg495=)
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) rs863224869
NM_004453.4(ETFDH):c.1503T>C (p.Asp501=) rs752947878
NM_004453.4(ETFDH):c.150C>T (p.Pro50=)
NM_004453.4(ETFDH):c.1512dup (p.Ile505fs) rs2126316172
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr) rs751394068
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.152G>C (p.Arg51Pro) rs534388496
NM_004453.4(ETFDH):c.152G>T (p.Arg51Leu) rs534388496
NM_004453.4(ETFDH):c.1539G>A (p.Gln513=)
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His) rs1445646586
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr)
NM_004453.4(ETFDH):c.1542C>T (p.Ile514=) rs2126316304
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser) rs1580423432
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn) rs2150304401
NM_004453.4(ETFDH):c.1554C>T (p.Leu518=)
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) rs533097197
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) rs1774630121
NM_004453.4(ETFDH):c.1557G>A (p.Leu519=)
NM_004453.4(ETFDH):c.1560A>G (p.Ser520=) rs566844923
NM_004453.4(ETFDH):c.1560A>T (p.Ser520=) rs566844923
NM_004453.4(ETFDH):c.1563T>C (p.Ser521=)
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) rs727503919
NM_004453.4(ETFDH):c.1573A>C (p.Ser525Arg)
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter) rs878853006
NM_004453.4(ETFDH):c.1581T>G (p.Thr527=)
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp)
NM_004453.4(ETFDH):c.1584T>C (p.Asn528=) rs2126316485
NM_004453.4(ETFDH):c.1586A>G (p.His529Arg) rs2126316486
NM_004453.4(ETFDH):c.1587T>G (p.His529Gln)
NM_004453.4(ETFDH):c.1589A>C (p.Glu530Ala)
NM_004453.4(ETFDH):c.1593T>C (p.His531=) rs2126316550
NM_004453.4(ETFDH):c.1596C>T (p.Asp532=)
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys) rs2126316568
NM_004453.4(ETFDH):c.1599G>A (p.Gln533=)
NM_004453.4(ETFDH):c.15A>G (p.Leu5=)
NM_004453.4(ETFDH):c.1602G>C (p.Pro534=)
NM_004453.4(ETFDH):c.1605A>G (p.Ala535=)
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs) rs1774633192
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val)
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=) rs1580423557
NM_004453.4(ETFDH):c.1623del (p.Asp541fs) rs2126316669
NM_004453.4(ETFDH):c.1626C>T (p.Asp542=)
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs)
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn)
NM_004453.4(ETFDH):c.1629T>C (p.Ser543=)
NM_004453.4(ETFDH):c.1629dup (p.Ile544fs) rs2126316699
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr)
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs) rs771393519
NM_004453.4(ETFDH):c.1636G>A (p.Val546Ile)
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs) rs2150304416
NM_004453.4(ETFDH):c.1641T>C (p.Asn547=)
NM_004453.4(ETFDH):c.1646del (p.Asn549fs)
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg)
NM_004453.4(ETFDH):c.1650G>A (p.Leu550=)
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs) rs2126316783
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004453.4(ETFDH):c.1653G>T (p.Ser551=) rs1408118210
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu)
NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs)
NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer)
NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter)
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr)
NM_004453.4(ETFDH):c.1662T>C (p.Asp554=) rs2126316862
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu) rs2126316873
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser) rs2126316885
NM_004453.4(ETFDH):c.1674G>A (p.Gln558=) rs2126316924
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
NM_004453.4(ETFDH):c.1677A>G (p.Arg559=)
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu)
NM_004453.4(ETFDH):c.1690+14T>C
NM_004453.4(ETFDH):c.1690+18T>C
NM_004453.4(ETFDH):c.1690+1G>C
NM_004453.4(ETFDH):c.1690+2T>G
NM_004453.4(ETFDH):c.1690+9T>G
NM_004453.4(ETFDH):c.1691-14_1691-9del
NM_004453.4(ETFDH):c.1691-15A>G
NM_004453.4(ETFDH):c.1691-15A>T
NM_004453.4(ETFDH):c.1691-18T>C
NM_004453.4(ETFDH):c.1691-2_1691-1delinsGA
NM_004453.4(ETFDH):c.1691-3C>G
NM_004453.4(ETFDH):c.1691-4T>C
NM_004453.4(ETFDH):c.1691-7T>C
NM_004453.4(ETFDH):c.1691-8_1691-2dup rs1326899328
NM_004453.4(ETFDH):c.1691-9A>G
NM_004453.4(ETFDH):c.1698T>C (p.Tyr566=) rs2126320707
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter) rs1774695889
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu)
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)
NM_004453.4(ETFDH):c.1710T>C (p.Pro570=)
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)
NM_004453.4(ETFDH):c.1716A>G (p.Glu572=) rs2126320794
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser) rs867281765
NM_004453.4(ETFDH):c.1723G>A (p.Asp575Asn)
NM_004453.4(ETFDH):c.1725T>C (p.Asp575=) rs1774697442
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg) rs760578708
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg) rs749989069
NM_004453.4(ETFDH):c.1745del (p.Asn582fs) rs1774698674
NM_004453.4(ETFDH):c.175+15G>C rs2150304437
NM_004453.4(ETFDH):c.175+18T>A rs778154689
NM_004453.4(ETFDH):c.175+19A>G
NM_004453.4(ETFDH):c.175+1G>C rs796051961
NM_004453.4(ETFDH):c.175+1del rs2150304426
NM_004453.4(ETFDH):c.175+20C>G
NM_004453.4(ETFDH):c.175+2T>C
NM_004453.4(ETFDH):c.175+3A>G rs781151266
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu)
NM_004453.4(ETFDH):c.1750C>T (p.Gln584Ter)
NM_004453.4(ETFDH):c.1759G>A (p.Val587Ile)
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu)
NM_004453.4(ETFDH):c.176-19G>A
NM_004453.4(ETFDH):c.176-19G>T
NM_004453.4(ETFDH):c.176-1G>A
NM_004453.4(ETFDH):c.176-20A>G
NM_004453.4(ETFDH):c.176-4C>T
NM_004453.4(ETFDH):c.176-5C>T rs2150305143
NM_004453.4(ETFDH):c.1762C>T (p.His588Tyr) rs1225042876
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg) rs781498366
NM_004453.4(ETFDH):c.1767T>C (p.Cys589=) rs1580425819
NM_004453.4(ETFDH):c.1773A>G (p.Thr591=)
NM_004453.4(ETFDH):c.1779del (p.Asp593fs)
NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr)
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup) rs1774700761
NM_004453.4(ETFDH):c.1785del (p.Asp596fs) rs2126321079
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn)
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His)
NM_004453.4(ETFDH):c.1800T>C (p.Asn600=) rs2126321129
NM_004453.4(ETFDH):c.1802T>A (p.Ile601Asn)
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter) rs1580425904
NM_004453.4(ETFDH):c.1806C>T (p.Asn602=)
NM_004453.4(ETFDH):c.180G>A (p.Val60=)
NM_004453.4(ETFDH):c.1810G>A (p.Val604Met) rs1436514087
NM_004453.4(ETFDH):c.1811T>A (p.Val604Glu) rs2126321188
NM_004453.4(ETFDH):c.1813dup (p.Val605fs)
NM_004453.4(ETFDH):c.1815A>G (p.Val605=) rs1248188975
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr) rs1292587000
NM_004453.4(ETFDH):c.1825GGA[2] (p.Gly611del)
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg) rs2126321296
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)
NM_004453.4(ETFDH):c.1834C>A (p.Pro612Thr)
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser)
NM_004453.4(ETFDH):c.183C>T (p.Asn61=) rs2150305147
NM_004453.4(ETFDH):c.1840T>A (p.Tyr614Asn)
NM_004453.4(ETFDH):c.1842C>A (p.Tyr614Ter)
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs)
NM_004453.4(ETFDH):c.1848A>T (p.Gly616=)
NM_004453.4(ETFDH):c.1850_1854del (p.Met617fs)
NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu) rs765742496
NM_004453.4(ETFDH):c.191G>C (p.Arg64Thr)
NM_004453.4(ETFDH):c.207del (p.Asp70fs) rs1773877563
NM_004453.4(ETFDH):c.20_21delinsC (p.Lys7fs)
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile)
NM_004453.4(ETFDH):c.21G>A (p.Lys7=) rs1232501551
NM_004453.4(ETFDH):c.226G>A (p.Ala76Thr) rs1430630684
NM_004453.4(ETFDH):c.234T>A (p.Pro78=)
NM_004453.4(ETFDH):c.234T>C (p.Pro78=)
NM_004453.4(ETFDH):c.235G>A (p.Ala79Thr)
NM_004453.4(ETFDH):c.240_241del (p.Ser82fs)
NM_004453.4(ETFDH):c.243C>A (p.Leu81=)
NM_004453.4(ETFDH):c.243C>G (p.Leu81=) rs1186680703
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)
NM_004453.4(ETFDH):c.24G>T (p.Leu8=)
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val) rs1580396712
NM_004453.4(ETFDH):c.252T>C (p.Ala84=)
NM_004453.4(ETFDH):c.259C>T (p.Leu87=) rs2150305192
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) rs1175266968
NM_004453.4(ETFDH):c.260del (p.Leu87fs)
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter) rs2150305196
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs) rs1773880008
NM_004453.4(ETFDH):c.268T>C (p.Leu90=)
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) rs749085653
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser)
NM_004453.4(ETFDH):c.270G>A (p.Leu90=) rs2150305205
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.282T>C (p.His94=)
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly) rs1580396806
NM_004453.4(ETFDH):c.288G>A (p.Lys96=)
NM_004453.4(ETFDH):c.291C>T (p.Asp97=) rs2150305224
NM_004453.4(ETFDH):c.296G>C (p.Arg99Pro) rs376630579
NM_004453.4(ETFDH):c.299T>A (p.Val100Glu)
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) rs121964953
NM_004453.4(ETFDH):c.300G>A (p.Val100=) rs1580396868
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.304C>G (p.Leu102Val)
NM_004453.4(ETFDH):c.306A>C (p.Leu102=) rs2150305233
NM_004453.4(ETFDH):c.306A>G (p.Leu102=) rs2150305233
NM_004453.4(ETFDH):c.312G>A (p.Glu104=)
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)
NM_004453.4(ETFDH):c.330A>C (p.Gly110=) rs2150305251
NM_004453.4(ETFDH):c.334C>A (p.His112Asn) rs1773883564
NM_004453.4(ETFDH):c.336_345del (p.His112fs)
NM_004453.4(ETFDH):c.339T>G (p.Thr113=)
NM_004453.4(ETFDH):c.34+11A>G
NM_004453.4(ETFDH):c.34+16C>A
NM_004453.4(ETFDH):c.34+17G>A
NM_004453.4(ETFDH):c.34+1G>A
NM_004453.4(ETFDH):c.34+2T>A
NM_004453.4(ETFDH):c.34+5G>A
NM_004453.4(ETFDH):c.34+5G>C rs1373597092
NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr)
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter) rs2150305273
NM_004453.4(ETFDH):c.348G>A (p.Gly116=)
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro) rs763106795
NM_004453.4(ETFDH):c.35-11T>C
NM_004453.4(ETFDH):c.35-16C>T
NM_004453.4(ETFDH):c.35-18T>A
NM_004453.4(ETFDH):c.35-20T>C
NM_004453.4(ETFDH):c.35-3C>A rs1554031296
NM_004453.4(ETFDH):c.35-4G>A
NM_004453.4(ETFDH):c.35-6G>A rs753999138
NM_004453.4(ETFDH):c.35-6G>T rs753999138
NM_004453.4(ETFDH):c.35-7T>C rs2150304320
NM_004453.4(ETFDH):c.35-8T>C rs2150304318
NM_004453.4(ETFDH):c.350_351dup (p.Cys118fs)
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.360dup (p.Pro121fs)
NM_004453.4(ETFDH):c.36A>G (p.Ala12=) rs201254467
NM_004453.4(ETFDH):c.36del (p.Tyr13fs) rs2150304327
NM_004453.4(ETFDH):c.372_373insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATCCAGGTGCTTTT (p.Lys125fs)
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu)
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys) rs1773885660
NM_004453.4(ETFDH):c.379C>T (p.Leu127Phe)
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.380T>C (p.Leu127Pro) rs121964956
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg) rs121964956
NM_004453.4(ETFDH):c.383del (p.Phe128fs)
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser) rs985343342
NM_004453.4(ETFDH):c.386del (p.Pro129fs) rs2150305297
NM_004453.4(ETFDH):c.387A>G (p.Pro129=) rs1295185280
NM_004453.4(ETFDH):c.392G>A (p.Trp131Ter)
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs) rs2150305310
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)
NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)
NM_004453.4(ETFDH):c.405+11T>C
NM_004453.4(ETFDH):c.405+13G>A rs375086504
NM_004453.4(ETFDH):c.405+13G>T
NM_004453.4(ETFDH):c.405+19del
NM_004453.4(ETFDH):c.405+19dup
NM_004453.4(ETFDH):c.405+1G>A
NM_004453.4(ETFDH):c.405+1G>T rs2150305321
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.405G>A (p.Gly135=)
NM_004453.4(ETFDH):c.406-13_406-11del
NM_004453.4(ETFDH):c.406-19T>C
NM_004453.4(ETFDH):c.406-20T>C
NM_004453.4(ETFDH):c.406-2A>G rs2150306282
NM_004453.4(ETFDH):c.406-5T>C
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)
NM_004453.4(ETFDH):c.40del (p.Gln14fs)
NM_004453.4(ETFDH):c.410C>T (p.Pro137Leu)
NM_004453.4(ETFDH):c.411A>C (p.Pro137=) rs1187372386
NM_004453.4(ETFDH):c.411A>G (p.Pro137=)
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe)
NM_004453.4(ETFDH):c.420T>C (p.Thr140=)
NM_004453.4(ETFDH):c.423T>A (p.Pro141=)
NM_004453.4(ETFDH):c.426A>C (p.Val142=)
NM_004453.4(ETFDH):c.426A>G (p.Val142=)
NM_004453.4(ETFDH):c.42G>C (p.Gln14His)
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
NM_004453.4(ETFDH):c.430_431del (p.Glu144fs)
NM_004453.4(ETFDH):c.432_438del (p.Glu144fs) rs1231802914
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser)
NM_004453.4(ETFDH):c.443G>A (p.Gly148Glu)
NM_004453.4(ETFDH):c.443_446dup (p.Ile149fs) rs1773954366
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.456_457del (p.Lys153fs)
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter) rs549150456
NM_004453.4(ETFDH):c.468dup (p.Pro157fs)
NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile)
NM_004453.4(ETFDH):c.471T>C (p.Pro157=)
NM_004453.4(ETFDH):c.471T>G (p.Pro157=)
NM_004453.4(ETFDH):c.477A>G (p.Pro159=) rs2150306341
NM_004453.4(ETFDH):c.477A>T (p.Pro159=) rs2150306341
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu) rs1773956133
NM_004453.4(ETFDH):c.485_487+13del rs1773956317
NM_004453.4(ETFDH):c.485_487+14delinsT rs796051963
NM_004453.4(ETFDH):c.487+13G>T
NM_004453.4(ETFDH):c.487+14A>T
NM_004453.4(ETFDH):c.487+15A>G
NM_004453.4(ETFDH):c.487+15A>T
NM_004453.4(ETFDH):c.487+1G>A rs1444488601
NM_004453.4(ETFDH):c.487+20C>A
NM_004453.4(ETFDH):c.487+2T>A
NM_004453.4(ETFDH):c.487+2T>G
NM_004453.4(ETFDH):c.487+8A>G
NM_004453.4(ETFDH):c.487+8A>T rs1773956780
NM_004453.4(ETFDH):c.487+9T>C
NM_004453.4(ETFDH):c.488-12A>G rs180889150
NM_004453.4(ETFDH):c.488-17T>A
NM_004453.4(ETFDH):c.488-18T>C
NM_004453.4(ETFDH):c.488-1G>T rs2150306551
NM_004453.4(ETFDH):c.488-6T>C
NM_004453.4(ETFDH):c.488-9T>C rs1554031705
NM_004453.4(ETFDH):c.492T>C (p.Leu164=) rs1773968944
NM_004453.4(ETFDH):c.504T>C (p.Asn168=) rs1773969287
NM_004453.4(ETFDH):c.508G>T (p.Gly170Cys)
NM_004453.4(ETFDH):c.510C>G (p.Gly170=) rs747148665
NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp)
NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser) rs1773969792
NM_004453.4(ETFDH):c.51T>C (p.His17=)
NM_004453.4(ETFDH):c.521T>C (p.Val174Ala)
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) rs121964955
NM_004453.4(ETFDH):c.528G>C (p.Leu176Phe)
NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg)
NM_004453.4(ETFDH):c.534T>C (p.His178=)
NM_004453.4(ETFDH):c.540G>C (p.Val180=)
NM_004453.4(ETFDH):c.540G>T (p.Val180=) rs1580400148
NM_004453.4(ETFDH):c.543C>T (p.Ser181=)
NM_004453.4(ETFDH):c.549G>A (p.Met183Ile)
NM_004453.4(ETFDH):c.54C>T (p.Ala18=)
NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys)
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) rs369912835
NM_004453.4(ETFDH):c.561A>G (p.Ala187=) rs1318375497
NM_004453.4(ETFDH):c.567C>T (p.Ala189=) rs1773972695
NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro) rs1255103931
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer) rs2150304339
NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter)
NM_004453.4(ETFDH):c.577del (p.Glu193fs)
NM_004453.4(ETFDH):c.578A>C (p.Glu193Ala)
NM_004453.4(ETFDH):c.582A>G (p.Val194=) rs2150306629
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs) rs2150306625
NM_004453.4(ETFDH):c.585C>T (p.Tyr195=)
NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr)
NM_004453.4(ETFDH):c.587C>A (p.Pro196His)
NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln) rs2150306642
NM_004453.4(ETFDH):c.603T>G (p.Ala201=)
NM_004453.4(ETFDH):c.606+10G>A rs2150306651
NM_004453.4(ETFDH):c.606+10GTTTT[2] rs745580994
NM_004453.4(ETFDH):c.606+13T>C
NM_004453.4(ETFDH):c.606+18T>G
NM_004453.4(ETFDH):c.606+1G>A rs1241072742
NM_004453.4(ETFDH):c.606+1G>T
NM_004453.4(ETFDH):c.606+4dup
NM_004453.4(ETFDH):c.607-12T>A
NM_004453.4(ETFDH):c.607-12del
NM_004453.4(ETFDH):c.607-12dup rs527944729
NM_004453.4(ETFDH):c.607-15T>A
NM_004453.4(ETFDH):c.607-1G>A
NM_004453.4(ETFDH):c.607-1G>C
NM_004453.4(ETFDH):c.607-1G>T rs760251231
NM_004453.4(ETFDH):c.607-20_607-19del
NM_004453.4(ETFDH):c.607-2A>G
NM_004453.4(ETFDH):c.607-3del
NM_004453.4(ETFDH):c.607-7T>C
NM_004453.4(ETFDH):c.607-8_607-7del rs2150308959
NM_004453.4(ETFDH):c.607-9C>A
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.624T>C (p.Asp208=)
NM_004453.4(ETFDH):c.630T>C (p.Ser210=) rs1456188483
NM_004453.4(ETFDH):c.638G>C (p.Gly213Ala)
NM_004453.4(ETFDH):c.639A>G (p.Gly213=)
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.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.645C>T (p.Ala215=)
NM_004453.4(ETFDH):c.655G>A (p.Val219Ile)
NM_004453.4(ETFDH):c.657A>G (p.Val219=)
NM_004453.4(ETFDH):c.660G>C (p.Gly220=) rs2150309010
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.672T>C (p.Asp224=)
NM_004453.4(ETFDH):c.675T>C (p.Gly225=)
NM_004453.4(ETFDH):c.679C>T (p.Pro227Ser)
NM_004453.4(ETFDH):c.684+11T>C
NM_004453.4(ETFDH):c.684+12del
NM_004453.4(ETFDH):c.684+19T>C
NM_004453.4(ETFDH):c.684+20dup
NM_004453.4(ETFDH):c.684+2T>C
NM_004453.4(ETFDH):c.684+2T>G rs1580406119
NM_004453.4(ETFDH):c.684+3_684+9dup rs773592713
NM_004453.4(ETFDH):c.684+7C>G
NM_004453.4(ETFDH):c.684G>T (p.Lys228Asn)
NM_004453.4(ETFDH):c.685-15G>A
NM_004453.4(ETFDH):c.685-18C>A
NM_004453.4(ETFDH):c.685-1G>A
NM_004453.4(ETFDH):c.685-4del
NM_004453.4(ETFDH):c.685-8C>G
NM_004453.4(ETFDH):c.685-9G>C
NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs)
NM_004453.4(ETFDH):c.687A>G (p.Ala229=)
NM_004453.4(ETFDH):c.694G>T (p.Glu232Ter)
NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly)
NM_004453.4(ETFDH):c.6G>C (p.Leu2=) rs2150300532
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg) rs1032041993
NM_004453.4(ETFDH):c.705G>A (p.Leu235=)
NM_004453.4(ETFDH):c.709C>T (p.Leu237=) rs2150310947
NM_004453.4(ETFDH):c.714T>C (p.His238=)
NM_004453.4(ETFDH):c.71dup (p.Asn24fs) rs2150304342
NM_004453.4(ETFDH):c.723del (p.Thr242fs)
NM_004453.4(ETFDH):c.725C>T (p.Thr242Ile)
NM_004453.4(ETFDH):c.726A>G (p.Thr242=) rs2150310952
NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys)
NM_004453.4(ETFDH):c.750A>T (p.Gly250=) rs2150310974
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg) rs1580411844
NM_004453.4(ETFDH):c.769T>C (p.Tyr257His) rs1441657866
NM_004453.4(ETFDH):c.774G>A (p.Lys258=) rs1014508077
NM_004453.4(ETFDH):c.783T>C (p.Asp261=)
NM_004453.4(ETFDH):c.783_787del (p.Asp261fs)
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val)
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) rs1450977775
NM_004453.4(ETFDH):c.789A>G (p.Arg263=)
NM_004453.4(ETFDH):c.789_790dup (p.Ala264fs)
NM_004453.4(ETFDH):c.78A>G (p.Leu26=)
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu) rs1580411897
NM_004453.4(ETFDH):c.806A>T (p.Gln269Leu) rs776320810
NM_004453.4(ETFDH):c.807A>C (p.Gln269His) rs1265381182
NM_004453.4(ETFDH):c.807A>G (p.Gln269=)
NM_004453.4(ETFDH):c.813C>A (p.Tyr271Ter)
NM_004453.4(ETFDH):c.813C>T (p.Tyr271=)
NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr)
NM_004453.4(ETFDH):c.823C>T (p.Leu275=)
NM_004453.4(ETFDH):c.825G>A (p.Leu275=)
NM_004453.4(ETFDH):c.831+18T>C
NM_004453.4(ETFDH):c.831+19G>A
NM_004453.4(ETFDH):c.831+1G>A
NM_004453.4(ETFDH):c.831+2T>G
NM_004453.4(ETFDH):c.831+3A>C rs1426349276
NM_004453.4(ETFDH):c.831+6C>T
NM_004453.4(ETFDH):c.831+8G>A
NM_004453.4(ETFDH):c.832-13T>C
NM_004453.4(ETFDH):c.832-16C>T
NM_004453.4(ETFDH):c.832-1G>A
NM_004453.4(ETFDH):c.832-3dup rs376153836
NM_004453.4(ETFDH):c.832-4_832-3del
NM_004453.4(ETFDH):c.832-4_832-3insA
NM_004453.4(ETFDH):c.834A>G (p.Leu278=) rs761077518
NM_004453.4(ETFDH):c.838del (p.Val280fs)
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg) rs1774343332
NM_004453.4(ETFDH):c.867G>A (p.Gly289=) rs1774343547
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly) rs755907131
NM_004453.4(ETFDH):c.879C>T (p.His293=) rs1774344228
NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp)
NM_004453.4(ETFDH):c.888T>C (p.Gly296=) rs1174948040
NM_004453.4(ETFDH):c.890G>A (p.Trp297Ter)
NM_004453.4(ETFDH):c.891G>A (p.Trp297Ter)
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser) rs1774344831
NM_004453.4(ETFDH):c.897G>A (p.Leu299=)
NM_004453.4(ETFDH):c.901del (p.Arg301fs)
NM_004453.4(ETFDH):c.906T>C (p.His302=) rs2150311696
NM_004453.4(ETFDH):c.909C>T (p.Thr303=)
NM_004453.4(ETFDH):c.90T>C (p.Ala30=)
NM_004453.4(ETFDH):c.912T>C (p.Tyr304=) rs2150311706
NM_004453.4(ETFDH):c.914dup (p.Gly306fs)
NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter)
NM_004453.4(ETFDH):c.918A>G (p.Gly306=)
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)
NM_004453.4(ETFDH):c.920C>T (p.Ser307Phe) rs769047475
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val) rs1218671512
NM_004453.4(ETFDH):c.924C>T (p.Phe308=) rs1261212490
NM_004453.4(ETFDH):c.927C>G (p.Leu309=)
NM_004453.4(ETFDH):c.928dup (p.Tyr310fs)
NM_004453.4(ETFDH):c.929A>G (p.Tyr310Cys) rs796051958
NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)
NM_004453.4(ETFDH):c.933T>C (p.His311=) rs2150311727
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val)
NM_004453.4(ETFDH):c.936G>A (p.Leu312=)
NM_004453.4(ETFDH):c.939T>C (p.Asn313=) rs2150311730
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys)
NM_004453.4(ETFDH):c.942A>G (p.Glu314=)
NM_004453.4(ETFDH):c.948A>G (p.Glu316=) rs1774347347
NM_004453.4(ETFDH):c.951C>G (p.Pro317=)
NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile) rs763002171
NM_004453.4(ETFDH):c.952C>T (p.Leu318=) rs763002171
NM_004453.4(ETFDH):c.954A>G (p.Leu318=)
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro) rs1464356117
NM_004453.4(ETFDH):c.966T>C (p.Gly322=) rs2150311745
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu) rs1774348680
NM_004453.4(ETFDH):c.972+10A>G rs745409764
NM_004453.4(ETFDH):c.972+11T>A
NM_004453.4(ETFDH):c.972+11T>C
NM_004453.4(ETFDH):c.972+16A>G
NM_004453.4(ETFDH):c.972+16A>T
NM_004453.4(ETFDH):c.972+1del
NM_004453.4(ETFDH):c.972+7T>A rs1580414056
NM_004453.4(ETFDH):c.972+9T>C
NM_004453.4(ETFDH):c.973-13G>A
NM_004453.4(ETFDH):c.973-14T>C
NM_004453.4(ETFDH):c.973-16A>C
NM_004453.4(ETFDH):c.973-17_973-16del
NM_004453.4(ETFDH):c.973-19A>G
NM_004453.4(ETFDH):c.973-1G>A rs1580415323
NM_004453.4(ETFDH):c.973-2A>G rs2150312193
NM_004453.4(ETFDH):c.973-9A>T
NM_004453.4(ETFDH):c.975T>C (p.Val325=) rs2150312198
NM_004453.4(ETFDH):c.977G>A (p.Gly326Asp)
NM_004453.4(ETFDH):c.978T>C (p.Gly326=)
NM_004453.4(ETFDH):c.981A>G (p.Leu327=) rs2150312206
NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly)
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter) rs1169197181
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile) rs2150312216
NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu)
NM_004453.4(ETFDH):c.996A>G (p.Pro332=) rs566071326
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter) rs2150312228

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