ClinVar Miner

List of variants reported as likely benign for Multiple acyl-CoA dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 772
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HGVS dbSNP gnomAD frequency
NM_001985.3(ETFB):c.58-318_58-313dup rs61361626 0.08041
NM_004453.3(ETFDH):c.-239G>A rs113981461 0.01253
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_000126.4(ETFA):c.-71T>C rs116149551 0.00516
NM_000126.4(ETFA):c.351+17T>C rs138629105 0.00467
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) rs147353781 0.00133
NM_001985.3(ETFB):c.521G>A (p.Arg174His) rs141917423 0.00130
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239 0.00081
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_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.441T>C (p.Phe147=) rs138149265 0.00028
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=) rs143873407 0.00025
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln) rs150105001 0.00023
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe) rs74735908 0.00019
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_001985.3(ETFB):c.577G>A (p.Ala193Thr) rs200186078 0.00016
NM_001985.3(ETFB):c.264C>T (p.His88=) rs562266125 0.00015
NM_004453.4(ETFDH):c.1479T>C (p.Phe493=) rs1423401867 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_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
NM_004453.4(ETFDH):c.1764T>C (p.His588=) rs141180629 0.00009
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys) rs376065198 0.00008
NM_001985.3(ETFB):c.18G>C (p.Val6=) rs572600030 0.00007
NM_001985.3(ETFB):c.402A>G (p.Thr134=) rs754039782 0.00007
NM_000126.4(ETFA):c.269-15G>A rs371793833 0.00006
NM_000126.4(ETFA):c.442A>G (p.Ile148Val) rs199673198 0.00006
NM_000126.4(ETFA):c.817-12C>T rs752918296 0.00006
NM_001985.3(ETFB):c.708C>T (p.Gly236=) rs749837573 0.00006
NM_001985.3(ETFB):c.81C>T (p.Thr27=) rs374819445 0.00006
NM_004453.4(ETFDH):c.1690+20C>T rs376588328 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_001985.3(ETFB):c.216+7A>G rs910583174 0.00005
NM_001985.3(ETFB):c.582G>A (p.Thr194=) rs376679757 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_000126.4(ETFA):c.345C>T (p.Phe115=) rs760557143 0.00004
NM_001985.3(ETFB):c.705C>T (p.Ala235=) rs760012472 0.00004
NM_004453.4(ETFDH):c.1659T>C (p.Tyr553=) rs1333454413 0.00004
NM_004453.4(ETFDH):c.285A>G (p.Glu95=) rs201268972 0.00004
NM_004453.4(ETFDH):c.488-12A>C rs180889150 0.00004
NM_000126.4(ETFA):c.351+8G>A rs374723922 0.00003
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231 0.00003
NM_000126.4(ETFA):c.733+16T>G rs755381395 0.00003
NM_000126.4(ETFA):c.771T>G (p.Val257=) rs138255469 0.00003
NM_000126.4(ETFA):c.816+8T>A rs759412407 0.00003
NM_000126.4(ETFA):c.981T>G (p.Thr327=) rs752246889 0.00003
NM_001985.3(ETFB):c.135G>A (p.Ala45=) rs372040033 0.00003
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) rs201823591 0.00003
NM_004453.4(ETFDH):c.1468+12_1468+13del rs769120603 0.00003
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=) rs566844923 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_025207.5(FLAD1):c.508T>C (p.Phe170Leu) rs761928040 0.00003
NM_000126.4(ETFA):c.352-8G>T rs767560884 0.00002
NM_000126.4(ETFA):c.39+8C>T rs771448257 0.00002
NM_000126.4(ETFA):c.489G>C (p.Val163=) rs1294335935 0.00002
NM_000126.4(ETFA):c.734-11T>C rs771704448 0.00002
NM_000126.4(ETFA):c.882+8T>C rs776847997 0.00002
NM_000126.4(ETFA):c.882+9A>G rs373161597 0.00002
NM_001985.3(ETFB):c.393T>C (p.Cys131=) rs371564310 0.00002
NM_001985.3(ETFB):c.439-20C>G rs755291156 0.00002
NM_001985.3(ETFB):c.57+7G>C rs759897705 0.00002
NM_001985.3(ETFB):c.576C>T (p.Tyr192=) rs748162444 0.00002
NM_001985.3(ETFB):c.702G>A (p.Thr234=) rs769668781 0.00002
NM_004453.4(ETFDH):c.1371C>G (p.Ser457=) rs749280294 0.00002
NM_004453.4(ETFDH):c.176-7C>T rs776816664 0.00002
NM_004453.4(ETFDH):c.474G>A (p.Val158=) rs1350126940 0.00002
NM_004453.4(ETFDH):c.558A>G (p.Gln186=) rs143688210 0.00002
NM_004453.4(ETFDH):c.972+8A>G rs778686663 0.00002
NM_000126.4(ETFA):c.187-4A>T rs745823838 0.00001
NM_000126.4(ETFA):c.21G>C (p.Pro7=) rs903002200 0.00001
NM_000126.4(ETFA):c.264T>A (p.Leu88=) rs1405829462 0.00001
NM_000126.4(ETFA):c.269-5C>T rs2039776155 0.00001
NM_000126.4(ETFA):c.273A>G (p.Glu91=) rs1043494451 0.00001
NM_000126.4(ETFA):c.283T>C (p.Leu95=) rs759065701 0.00001
NM_000126.4(ETFA):c.30C>T (p.Leu10=) rs1042921735 0.00001
NM_000126.4(ETFA):c.321C>T (p.His107=) rs368550471 0.00001
NM_000126.4(ETFA):c.342C>T (p.Ala114=) rs1306072739 0.00001
NM_000126.4(ETFA):c.351+10T>C rs768357479 0.00001
NM_000126.4(ETFA):c.354C>T (p.Asn118=) rs761728625 0.00001
NM_000126.4(ETFA):c.393G>A (p.Pro131=) rs769299291 0.00001
NM_000126.4(ETFA):c.452-11del rs764215608 0.00001
NM_000126.4(ETFA):c.564A>G (p.Ala188=) rs752534473 0.00001
NM_000126.4(ETFA):c.654G>A (p.Val218=) rs779655385 0.00001
NM_000126.4(ETFA):c.678G>A (p.Lys226=) rs774023966 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.831T>C (p.Ala277=) rs371149279 0.00001
NM_000126.4(ETFA):c.883-10T>C rs1289782242 0.00001
NM_000126.4(ETFA):c.883-14T>A rs2038999587 0.00001
NM_000126.4(ETFA):c.951A>G (p.Ala317=) rs750192285 0.00001
NM_000126.4(ETFA):c.964-4G>A rs777742977 0.00001
NM_001985.3(ETFB):c.151C>A (p.Arg51=) rs1308673942 0.00001
NM_001985.3(ETFB):c.189C>T (p.Ala63=) rs267605609 0.00001
NM_001985.3(ETFB):c.439-14C>T rs756770328 0.00001
NM_001985.3(ETFB):c.57+16del rs529887209 0.00001
NM_001985.3(ETFB):c.597+8C>T rs758639864 0.00001
NM_001985.3(ETFB):c.598-14C>T rs750381743 0.00001
NM_001985.3(ETFB):c.90C>A (p.Val30=) rs1986016385 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.1233A>C (p.Ala411=) rs772194053 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.1344A>G (p.Leu448=) rs765652548 0.00001
NM_004453.4(ETFDH):c.1368G>A (p.Pro456=) rs781354386 0.00001
NM_004453.4(ETFDH):c.1377C>T (p.His459=) rs1243627865 0.00001
NM_004453.4(ETFDH):c.1432T>C (p.Leu478=) rs1774615019 0.00001
NM_004453.4(ETFDH):c.1468+8A>G rs755214741 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.1530C>T (p.Pro510=) rs754795292 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.1734G>A (p.Arg578=) rs761505388 0.00001
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=) rs755342205 0.00001
NM_004453.4(ETFDH):c.219A>T (p.Ile73=) rs1297866480 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.34+7G>A rs1436016069 0.00001
NM_004453.4(ETFDH):c.342C>T (p.Leu114=) rs770193214 0.00001
NM_004453.4(ETFDH):c.363A>G (p.Pro121=) rs1773885365 0.00001
NM_004453.4(ETFDH):c.399G>A (p.Glu133=) rs1319398122 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.507T>C (p.His169=) rs772286040 0.00001
NM_004453.4(ETFDH):c.552C>T (p.Gly184=) rs752262349 0.00001
NM_004453.4(ETFDH):c.654T>C (p.Asp218=) rs1241684347 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.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.84A>G (p.Leu28=) rs1053865022 0.00001
NM_004453.4(ETFDH):c.870A>G (p.Arg290=) rs752487495 0.00001
NM_004453.4(ETFDH):c.969T>G (p.Leu323=) rs753462513 0.00001
NM_000126.4(ETFA):c.120C>T (p.Thr40=)
NM_000126.4(ETFA):c.126T>G (p.Thr42=)
NM_000126.4(ETFA):c.141T>G (p.Leu47=) rs2141543772
NM_000126.4(ETFA):c.153G>A (p.Val51=) rs2039810189
NM_000126.4(ETFA):c.156C>T (p.Ser52=) rs2141543739
NM_000126.4(ETFA):c.15G>A (p.Ala5=) rs1253564653
NM_000126.4(ETFA):c.165A>G (p.Val55=) rs2039810025
NM_000126.4(ETFA):c.183C>T (p.Asp61=) rs2141543697
NM_000126.4(ETFA):c.186+7A>C
NM_000126.4(ETFA):c.186+8A>T
NM_000126.4(ETFA):c.186+9T>A rs1596224309
NM_000126.4(ETFA):c.186+9T>C rs1596224309
NM_000126.4(ETFA):c.187-13C>A
NM_000126.4(ETFA):c.187-14T>C
NM_000126.4(ETFA):c.187-17T>G
NM_000126.4(ETFA):c.187-18C>T
NM_000126.4(ETFA):c.189G>A (p.Val63=) rs1179483198
NM_000126.4(ETFA):c.201C>G (p.Leu67=) rs1250916782
NM_000126.4(ETFA):c.210A>G (p.Val70=) rs1274661227
NM_000126.4(ETFA):c.210A>T (p.Val70=)
NM_000126.4(ETFA):c.213A>G (p.Ala71=)
NM_000126.4(ETFA):c.21G>A (p.Pro7=) rs903002200
NM_000126.4(ETFA):c.222A>G (p.Ala74=) rs2141540424
NM_000126.4(ETFA):c.228T>C (p.Val76=) rs1277270558
NM_000126.4(ETFA):c.240G>A (p.Gln80=) rs2141540395
NM_000126.4(ETFA):c.24G>A (p.Gly8=) rs2141564548
NM_000126.4(ETFA):c.24G>C (p.Gly8=) rs2141564548
NM_000126.4(ETFA):c.261A>G (p.Leu87=)
NM_000126.4(ETFA):c.264T>G (p.Leu88=) rs1405829462
NM_000126.4(ETFA):c.268+11C>G
NM_000126.4(ETFA):c.268+12C>T
NM_000126.4(ETFA):c.268+14G>A
NM_000126.4(ETFA):c.268+15T>C
NM_000126.4(ETFA):c.268+18A>G rs757775846
NM_000126.4(ETFA):c.269-15G>T
NM_000126.4(ETFA):c.269-19A>G
NM_000126.4(ETFA):c.269-5C>A
NM_000126.4(ETFA):c.282A>G (p.Pro94=)
NM_000126.4(ETFA):c.288T>C (p.Ile96=)
NM_000126.4(ETFA):c.294A>C (p.Ala98=) rs1458002715
NM_000126.4(ETFA):c.297T>C (p.Thr99=) rs2141540022
NM_000126.4(ETFA):c.297T>G (p.Thr99=)
NM_000126.4(ETFA):c.303G>A (p.Lys101=)
NM_000126.4(ETFA):c.30C>G (p.Leu10=) rs1042921735
NM_000126.4(ETFA):c.324C>A (p.Ile108=) rs753701756
NM_000126.4(ETFA):c.33G>C (p.Arg11=)
NM_000126.4(ETFA):c.348A>G (p.Gly116=) rs2141539896
NM_000126.4(ETFA):c.351+12G>A rs2039773989
NM_000126.4(ETFA):c.351+18G>A
NM_000126.4(ETFA):c.351+20G>A
NM_000126.4(ETFA):c.351+8G>C rs374723922
NM_000126.4(ETFA):c.351+9G>A rs2039774067
NM_000126.4(ETFA):c.352-16C>G
NM_000126.4(ETFA):c.352-19C>T
NM_000126.4(ETFA):c.352-7C>T
NM_000126.4(ETFA):c.358T>C (p.Leu120=) rs2141533653
NM_000126.4(ETFA):c.363C>T (p.Pro121=)
NM_000126.4(ETFA):c.366A>G (p.Arg122=) rs2039718120
NM_000126.4(ETFA):c.369A>T (p.Val123=)
NM_000126.4(ETFA):c.36G>A (p.Arg12=) rs1299355915
NM_000126.4(ETFA):c.372A>C (p.Ala124=)
NM_000126.4(ETFA):c.384G>A (p.Glu128=)
NM_000126.4(ETFA):c.39+11A>C
NM_000126.4(ETFA):c.39+14G>T
NM_000126.4(ETFA):c.39+17A>G
NM_000126.4(ETFA):c.39+18del
NM_000126.4(ETFA):c.39+19G>A
NM_000126.4(ETFA):c.39+7C>T
NM_000126.4(ETFA):c.39+8C>G
NM_000126.4(ETFA):c.39+9G>A rs2039995773
NM_000126.4(ETFA):c.39+9G>C
NM_000126.4(ETFA):c.390C>T (p.Ala130=)
NM_000126.4(ETFA):c.40-10C>T rs546196896
NM_000126.4(ETFA):c.40-16T>G rs1402206099
NM_000126.4(ETFA):c.40-17C>A
NM_000126.4(ETFA):c.40-17_40-8del
NM_000126.4(ETFA):c.40-19T>C
NM_000126.4(ETFA):c.40-21_40-18dup
NM_000126.4(ETFA):c.40-21_40-19dup
NM_000126.4(ETFA):c.40-8C>T rs1380119459
NM_000126.4(ETFA):c.423T>C (p.Pro141=) rs2141533520
NM_000126.4(ETFA):c.426C>T (p.Asp142=)
NM_000126.4(ETFA):c.429A>C (p.Thr143=) rs2141533504
NM_000126.4(ETFA):c.429A>G (p.Thr143=)
NM_000126.4(ETFA):c.435G>A (p.Val145=) rs2141533487
NM_000126.4(ETFA):c.438A>G (p.Arg146=)
NM_000126.4(ETFA):c.441T>A (p.Thr147=) rs2141533484
NM_000126.4(ETFA):c.451+11A>C
NM_000126.4(ETFA):c.451+12A>G
NM_000126.4(ETFA):c.451+14_451+17del rs2039716961
NM_000126.4(ETFA):c.451+15A>G
NM_000126.4(ETFA):c.451+17G>T
NM_000126.4(ETFA):c.451+19T>C rs1301022193
NM_000126.4(ETFA):c.452-13T>A
NM_000126.4(ETFA):c.452-17T>C
NM_000126.4(ETFA):c.452-7G>A
NM_000126.4(ETFA):c.452-7G>T
NM_000126.4(ETFA):c.452-9A>G
NM_000126.4(ETFA):c.456T>C (p.Asn152=) rs2141531775
NM_000126.4(ETFA):c.462A>C (p.Leu154=) rs2039705956
NM_000126.4(ETFA):c.462A>G (p.Leu154=)
NM_000126.4(ETFA):c.468A>C (p.Thr156=) rs775043427
NM_000126.4(ETFA):c.471G>A (p.Val157=)
NM_000126.4(ETFA):c.495G>A (p.Val165=)
NM_000126.4(ETFA):c.513A>G (p.Thr171=)
NM_000126.4(ETFA):c.51A>G (p.Leu17=)
NM_000126.4(ETFA):c.540C>G (p.Gly180=) rs146133196
NM_000126.4(ETFA):c.540C>T (p.Gly180=) rs146133196
NM_000126.4(ETFA):c.549C>T (p.Ala183=)
NM_000126.4(ETFA):c.54A>G (p.Arg18=) rs2141543902
NM_000126.4(ETFA):c.558A>G (p.Glu186=) rs2141531548
NM_000126.4(ETFA):c.562+10C>G
NM_000126.4(ETFA):c.562+11A>G
NM_000126.4(ETFA):c.562+13T>G
NM_000126.4(ETFA):c.562+15G>C
NM_000126.4(ETFA):c.562+16G>T rs2141531505
NM_000126.4(ETFA):c.562+18G>T
NM_000126.4(ETFA):c.562+8T>C
NM_000126.4(ETFA):c.562+8T>G
NM_000126.4(ETFA):c.563-11A>T
NM_000126.4(ETFA):c.563-4G>A
NM_000126.4(ETFA):c.563-5T>C rs2141530823
NM_000126.4(ETFA):c.563-6A>G rs2141530825
NM_000126.4(ETFA):c.563-8G>A rs777484688
NM_000126.4(ETFA):c.563-9T>C
NM_000126.4(ETFA):c.579A>G (p.Pro193=) rs936157234
NM_000126.4(ETFA):c.591A>C (p.Ser197=) rs1327483238
NM_000126.4(ETFA):c.594G>A (p.Glu198=)
NM_000126.4(ETFA):c.603C>T (p.Asp201=)
NM_000126.4(ETFA):c.630A>G (p.Pro210=)
NM_000126.4(ETFA):c.657A>G (p.Val219=)
NM_000126.4(ETFA):c.660T>C (p.Ser220=)
NM_000126.4(ETFA):c.664+16A>C
NM_000126.4(ETFA):c.664+20T>C
NM_000126.4(ETFA):c.664+8A>T
NM_000126.4(ETFA):c.665-12T>A
NM_000126.4(ETFA):c.665-13C>G
NM_000126.4(ETFA):c.665-14T>C
NM_000126.4(ETFA):c.665-15A>G
NM_000126.4(ETFA):c.665-16dup
NM_000126.4(ETFA):c.665-17T>C
NM_000126.4(ETFA):c.665-18T>C
NM_000126.4(ETFA):c.665-4T>C
NM_000126.4(ETFA):c.667C>A (p.Arg223=) rs769976586
NM_000126.4(ETFA):c.66C>T (p.Thr22=) rs370375322
NM_000126.4(ETFA):c.687G>A (p.Glu229=)
NM_000126.4(ETFA):c.696G>A (p.Lys232=)
NM_000126.4(ETFA):c.69G>A (p.Leu23=)
NM_000126.4(ETFA):c.700T>C (p.Leu234=)
NM_000126.4(ETFA):c.702A>G (p.Leu234=) rs775620228
NM_000126.4(ETFA):c.721C>T (p.Leu241=)
NM_000126.4(ETFA):c.723A>G (p.Leu241=) rs2141528126
NM_000126.4(ETFA):c.733+10T>C rs1298665818
NM_000126.4(ETFA):c.733+16T>A
NM_000126.4(ETFA):c.733+18A>C
NM_000126.4(ETFA):c.733+8T>A
NM_000126.4(ETFA):c.733+8T>C
NM_000126.4(ETFA):c.733+9A>G
NM_000126.4(ETFA):c.734-10T>C rs2141516395
NM_000126.4(ETFA):c.734-17A>G
NM_000126.4(ETFA):c.734-8C>T
NM_000126.4(ETFA):c.750T>C (p.Ala250=)
NM_000126.4(ETFA):c.765C>A (p.Gly255=) rs2141516311
NM_000126.4(ETFA):c.780C>T (p.Asp260=)
NM_000126.4(ETFA):c.786A>G (p.Gln262=)
NM_000126.4(ETFA):c.798G>A (p.Thr266=) rs764478797
NM_000126.4(ETFA):c.810A>G (p.Val270=)
NM_000126.4(ETFA):c.813A>C (p.Ala271=) rs2141516230
NM_000126.4(ETFA):c.816+13A>G
NM_000126.4(ETFA):c.816+9T>A rs2141516215
NM_000126.4(ETFA):c.817-12_817-11del
NM_000126.4(ETFA):c.817-16A>G rs1176510084
NM_000126.4(ETFA):c.817-5T>A
NM_000126.4(ETFA):c.817-7A>G
NM_000126.4(ETFA):c.817-8T>G
NM_000126.4(ETFA):c.819A>G (p.Glu273=)
NM_000126.4(ETFA):c.81G>A (p.Glu27=)
NM_000126.4(ETFA):c.822T>A (p.Leu274=) rs2141463797
NM_000126.4(ETFA):c.822T>C (p.Leu274=) rs2141463797
NM_000126.4(ETFA):c.837A>C (p.Gly279=) rs772717284
NM_000126.4(ETFA):c.837A>G (p.Gly279=) rs772717284
NM_000126.4(ETFA):c.84T>C (p.His28=)
NM_000126.4(ETFA):c.864T>G (p.Ala288=)
NM_000126.4(ETFA):c.867G>A (p.Gly289=)
NM_000126.4(ETFA):c.882+10C>T rs2039064081
NM_000126.4(ETFA):c.882+14A>T
NM_000126.4(ETFA):c.882+15G>A
NM_000126.4(ETFA):c.882+7G>A rs753882653
NM_000126.4(ETFA):c.882+7G>C rs753882653
NM_000126.4(ETFA):c.882+7G>T rs753882653
NM_000126.4(ETFA):c.883-17_883-16del
NM_000126.4(ETFA):c.883-18T>C
NM_000126.4(ETFA):c.883-18T>G
NM_000126.4(ETFA):c.883-4A>G rs2142108087
NM_000126.4(ETFA):c.883-5C>T
NM_000126.4(ETFA):c.883-6T>C rs2142108091
NM_000126.4(ETFA):c.883-9A>G rs773894937
NM_000126.4(ETFA):c.883-9dup rs2142108094
NM_000126.4(ETFA):c.891G>C (p.Val297=) rs2142108075
NM_000126.4(ETFA):c.909A>G (p.Pro303=) rs2142108061
NM_000126.4(ETFA):c.927A>G (p.Gln309=)
NM_000126.4(ETFA):c.939T>C (p.Tyr313=)
NM_000126.4(ETFA):c.942A>C (p.Gly314=) rs1253828046
NM_000126.4(ETFA):c.945A>C (p.Ile315=) rs2142108038
NM_000126.4(ETFA):c.955T>C (p.Leu319=)
NM_000126.4(ETFA):c.960T>C (p.Phe320=)
NM_000126.4(ETFA):c.963+14G>A
NM_000126.4(ETFA):c.963+14G>C rs1369553684
NM_000126.4(ETFA):c.963+17A>G
NM_000126.4(ETFA):c.963+8G>A
NM_000126.4(ETFA):c.963+9del rs2038998662
NM_000126.4(ETFA):c.964-10T>C rs1223890959
NM_000126.4(ETFA):c.964-18T>G
NM_000126.4(ETFA):c.964-20C>T
NM_000126.4(ETFA):c.964-4G>T
NM_000126.4(ETFA):c.972T>C (p.Pro324=) rs1351662991
NM_000126.4(ETFA):c.99A>G (p.Leu33=)
NM_001985.3(ETFB):c.111C>T (p.Ser37=)
NM_001985.3(ETFB):c.117C>T (p.Asn39=) rs2123591099
NM_001985.3(ETFB):c.123C>T (p.Phe41=)
NM_001985.3(ETFB):c.12G>A (p.Leu4=)
NM_001985.3(ETFB):c.12G>C (p.Leu4=)
NM_001985.3(ETFB):c.132C>T (p.Ile44=) rs374935848
NM_001985.3(ETFB):c.135G>C (p.Ala45=)
NM_001985.3(ETFB):c.138G>C (p.Val46=) rs537142189
NM_001985.3(ETFB):c.156C>G (p.Leu52=)
NM_001985.3(ETFB):c.15C>T (p.Arg5=)
NM_001985.3(ETFB):c.174G>A (p.Val58=)
NM_001985.3(ETFB):c.180G>A (p.Glu60=)
NM_001985.3(ETFB):c.186C>T (p.Ile62=)
NM_001985.3(ETFB):c.201G>A (p.Gly67=)
NM_001985.3(ETFB):c.216+10G>A
NM_001985.3(ETFB):c.216+12C>T
NM_001985.3(ETFB):c.216+20G>C
NM_001985.3(ETFB):c.217-14T>G
NM_001985.3(ETFB):c.217-15C>T
NM_001985.3(ETFB):c.222G>A (p.Thr74=)
NM_001985.3(ETFB):c.225T>A (p.Ile75=)
NM_001985.3(ETFB):c.231C>T (p.Thr77=)
NM_001985.3(ETFB):c.252C>T (p.Asp84=) rs1599842126
NM_001985.3(ETFB):c.253C>A (p.Arg85=) rs187424345
NM_001985.3(ETFB):c.267G>A (p.Val89=) rs984710058
NM_001985.3(ETFB):c.267G>T (p.Val89=)
NM_001985.3(ETFB):c.273G>A (p.Val91=)
NM_001985.3(ETFB):c.282A>G (p.Ala94=)
NM_001985.3(ETFB):c.285A>G (p.Glu95=)
NM_001985.3(ETFB):c.297G>A (p.Leu99=)
NM_001985.3(ETFB):c.306G>A (p.Leu102=)
NM_001985.3(ETFB):c.30C>G (p.Val10=)
NM_001985.3(ETFB):c.315T>A (p.Ala105=)
NM_001985.3(ETFB):c.324G>A (p.Leu108=)
NM_001985.3(ETFB):c.327C>A (p.Ala109=)
NM_001985.3(ETFB):c.33G>A (p.Lys11=)
NM_001985.3(ETFB):c.351G>A (p.Val117=)
NM_001985.3(ETFB):c.355C>T (p.Leu119=)
NM_001985.3(ETFB):c.375+14G>A rs757521352
NM_001985.3(ETFB):c.375+16C>T
NM_001985.3(ETFB):c.375+19C>T
NM_001985.3(ETFB):c.375+7G>C
NM_001985.3(ETFB):c.376-12C>T
NM_001985.3(ETFB):c.376-7C>T
NM_001985.3(ETFB):c.381C>T (p.Ile127=)
NM_001985.3(ETFB):c.414A>G (p.Thr138=) rs1178011139
NM_001985.3(ETFB):c.438+12G>T
NM_001985.3(ETFB):c.438+13T>G
NM_001985.3(ETFB):c.438+7C>T
NM_001985.3(ETFB):c.439-18T>C
NM_001985.3(ETFB):c.439-20_439-18del
NM_001985.3(ETFB):c.439-4C>T rs2035246995
NM_001985.3(ETFB):c.450C>A (p.Ala150=)
NM_001985.3(ETFB):c.456G>A (p.Gln152=)
NM_001985.3(ETFB):c.462G>A (p.Thr154=)
NM_001985.3(ETFB):c.480G>A (p.Leu160=) rs2123572721
NM_001985.3(ETFB):c.48C>T (p.Tyr16=) rs1201149156
NM_001985.3(ETFB):c.492G>A (p.Arg164=)
NM_001985.3(ETFB):c.498C>T (p.Ile166=) rs150636733
NM_001985.3(ETFB):c.504G>C (p.Gly168=)
NM_001985.3(ETFB):c.519G>C (p.Leu173=) rs933129897
NM_001985.3(ETFB):c.531G>A (p.Leu177=)
NM_001985.3(ETFB):c.553C>T (p.Leu185=)
NM_001985.3(ETFB):c.564C>T (p.Asn188=)
NM_001985.3(ETFB):c.57+10C>A
NM_001985.3(ETFB):c.57+10C>T
NM_001985.3(ETFB):c.57+11C>A
NM_001985.3(ETFB):c.57+14C>G
NM_001985.3(ETFB):c.57+16T>C
NM_001985.3(ETFB):c.57+9G>A
NM_001985.3(ETFB):c.58-10T>C
NM_001985.3(ETFB):c.58-10T>G
NM_001985.3(ETFB):c.58-12C>T
NM_001985.3(ETFB):c.58-15C>T
NM_001985.3(ETFB):c.58-20C>T
NM_001985.3(ETFB):c.58-8_58-6del
NM_001985.3(ETFB):c.588C>G (p.Pro196=)
NM_001985.3(ETFB):c.597+12_597+25del rs756531454
NM_001985.3(ETFB):c.597+13C>G
NM_001985.3(ETFB):c.597+17C>A rs372586153
NM_001985.3(ETFB):c.597+17C>G
NM_001985.3(ETFB):c.597+17C>T
NM_001985.3(ETFB):c.597+18G>A
NM_001985.3(ETFB):c.597+19G>A
NM_001985.3(ETFB):c.597+9C>G rs1985800060
NM_001985.3(ETFB):c.597+9C>T
NM_001985.3(ETFB):c.598-10C>T
NM_001985.3(ETFB):c.598-15G>A
NM_001985.3(ETFB):c.598-15G>C
NM_001985.3(ETFB):c.598-18A>G
NM_001985.3(ETFB):c.598-6G>A
NM_001985.3(ETFB):c.598-7T>C
NM_001985.3(ETFB):c.598-8A>T
NM_001985.3(ETFB):c.598-9C>T
NM_001985.3(ETFB):c.61C>A (p.Arg21=)
NM_001985.3(ETFB):c.636G>A (p.Gly212=)
NM_001985.3(ETFB):c.648G>T (p.Val216=)
NM_001985.3(ETFB):c.652C>T (p.Leu218=)
NM_001985.3(ETFB):c.654G>C (p.Leu218=)
NM_001985.3(ETFB):c.663G>A (p.Lys221=)
NM_001985.3(ETFB):c.666C>G (p.Leu222=)
NM_001985.3(ETFB):c.666C>T (p.Leu222=)
NM_001985.3(ETFB):c.669T>C (p.Ser223=)
NM_001985.3(ETFB):c.690G>A (p.Pro230=)
NM_001985.3(ETFB):c.69G>A (p.Lys23=)
NM_001985.3(ETFB):c.6G>A (p.Ala2=)
NM_001985.3(ETFB):c.6G>T (p.Ala2=) rs2123621104
NM_001985.3(ETFB):c.705C>A (p.Ala235=)
NM_001985.3(ETFB):c.726T>C (p.Thr242=)
NM_001985.3(ETFB):c.72T>A (p.Pro24=)
NM_001985.3(ETFB):c.732C>T (p.Asp244=)
NM_001985.3(ETFB):c.747G>A (p.Leu249=)
NM_001985.3(ETFB):c.75C>T (p.Asp25=)
NM_001985.3(ETFB):c.760C>A (p.Arg254=)
NM_001985.3(ETFB):c.762G>T (p.Arg254=) rs2123567151
NM_001985.3(ETFB):c.93G>C (p.Thr31=)
NM_001985.3(ETFB):c.99T>C (p.Gly33=) rs2123591146
NM_001985.3(ETFB):c.9G>A (p.Glu3=) rs2123621091
NM_004453.4(ETFDH):c.1002G>C (p.Leu334=) rs1476673975
NM_004453.4(ETFDH):c.1026G>A (p.Arg342=)
NM_004453.4(ETFDH):c.1050G>A (p.Arg350=)
NM_004453.4(ETFDH):c.1053A>T (p.Pro351=)
NM_004453.4(ETFDH):c.1056C>T (p.Thr352=) rs2150312272
NM_004453.4(ETFDH):c.1089C>T (p.Ala363=) rs1774391973
NM_004453.4(ETFDH):c.1092A>G (p.Arg364=)
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.1116+13A>G
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1117-11T>C rs917132143
NM_004453.4(ETFDH):c.1117-19T>G
NM_004453.4(ETFDH):c.1117-20C>G
NM_004453.4(ETFDH):c.1117-9T>C
NM_004453.4(ETFDH):c.1140T>G (p.Pro380=) rs2126309197
NM_004453.4(ETFDH):c.114T>C (p.Thr38=)
NM_004453.4(ETFDH):c.1155T>C (p.Ile385=) rs2126309228
NM_004453.4(ETFDH):c.1170T>C (p.Gly390=)
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.1209A>C (p.Ala403=) rs1198347315
NM_004453.4(ETFDH):c.1239T>C (p.Ser413=)
NM_004453.4(ETFDH):c.1252C>T (p.Leu418=) rs769904185
NM_004453.4(ETFDH):c.1257T>A (p.Thr419=)
NM_004453.4(ETFDH):c.1269C>G (p.Leu423=)
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=) rs1284823413
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.1286-10T>C rs2126314578
NM_004453.4(ETFDH):c.1286-12T>C
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.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.1365A>G (p.Arg455=) rs1580422667
NM_004453.4(ETFDH):c.1386G>T (p.Leu462=)
NM_004453.4(ETFDH):c.1389T>A (p.Gly463=)
NM_004453.4(ETFDH):c.1395T>C (p.Tyr465=)
NM_004453.4(ETFDH):c.1398A>G (p.Gly466=) rs1400986353
NM_004453.4(ETFDH):c.1398A>T (p.Gly466=)
NM_004453.4(ETFDH):c.1416A>T (p.Gly472=)
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=) rs143873407
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.1469-17C>T
NM_004453.4(ETFDH):c.1469-18C>T
NM_004453.4(ETFDH):c.1469-19T>G rs2126316001
NM_004453.4(ETFDH):c.1469-4G>A
NM_004453.4(ETFDH):c.1469-4dup
NM_004453.4(ETFDH):c.1469-7G>T
NM_004453.4(ETFDH):c.1469-8T>C rs1774625470
NM_004453.4(ETFDH):c.1485G>A (p.Arg495=)
NM_004453.4(ETFDH):c.1503T>C (p.Asp501=) rs752947878
NM_004453.4(ETFDH):c.150C>T (p.Pro50=)
NM_004453.4(ETFDH):c.1539G>A (p.Gln513=)
NM_004453.4(ETFDH):c.1542C>T (p.Ile514=) rs2126316304
NM_004453.4(ETFDH):c.1554C>T (p.Leu518=)
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) rs533097197
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.1581T>G (p.Thr527=)
NM_004453.4(ETFDH):c.1584T>C (p.Asn528=) rs2126316485
NM_004453.4(ETFDH):c.1593T>C (p.His531=) rs2126316550
NM_004453.4(ETFDH):c.1596C>T (p.Asp532=)
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.1623T>C (p.Asp541=) rs1580423557
NM_004453.4(ETFDH):c.1626C>T (p.Asp542=)
NM_004453.4(ETFDH):c.1629T>C (p.Ser543=)
NM_004453.4(ETFDH):c.1641T>C (p.Asn547=)
NM_004453.4(ETFDH):c.1650G>A (p.Leu550=)
NM_004453.4(ETFDH):c.1653G>T (p.Ser551=) rs1408118210
NM_004453.4(ETFDH):c.1662T>C (p.Asp554=) rs2126316862
NM_004453.4(ETFDH):c.1674G>A (p.Gln558=) rs2126316924
NM_004453.4(ETFDH):c.1677A>G (p.Arg559=)
NM_004453.4(ETFDH):c.1690+14T>C
NM_004453.4(ETFDH):c.1690+18T>C
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.1691-4T>C
NM_004453.4(ETFDH):c.1691-7T>C
NM_004453.4(ETFDH):c.1691-8_1691-2dup rs1326899328
NM_004453.4(ETFDH):c.1698T>C (p.Tyr566=) rs2126320707
NM_004453.4(ETFDH):c.1716A>G (p.Glu572=) rs2126320794
NM_004453.4(ETFDH):c.1725T>C (p.Asp575=) rs1774697442
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+20C>G
NM_004453.4(ETFDH):c.175+3A>G rs781151266
NM_004453.4(ETFDH):c.176-19G>T
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.1767T>C (p.Cys589=) rs1580425819
NM_004453.4(ETFDH):c.1773A>G (p.Thr591=)
NM_004453.4(ETFDH):c.1800T>C (p.Asn600=) rs2126321129
NM_004453.4(ETFDH):c.1806C>T (p.Asn602=)
NM_004453.4(ETFDH):c.180G>A (p.Val60=)
NM_004453.4(ETFDH):c.1815A>G (p.Val605=) rs1248188975
NM_004453.4(ETFDH):c.183C>T (p.Asn61=) rs2150305147
NM_004453.4(ETFDH):c.1848A>T (p.Gly616=)
NM_004453.4(ETFDH):c.21G>A (p.Lys7=) rs1232501551
NM_004453.4(ETFDH):c.234T>A (p.Pro78=)
NM_004453.4(ETFDH):c.243C>A (p.Leu81=)
NM_004453.4(ETFDH):c.243C>G (p.Leu81=) rs1186680703
NM_004453.4(ETFDH):c.24G>T (p.Leu8=)
NM_004453.4(ETFDH):c.252T>C (p.Ala84=)
NM_004453.4(ETFDH):c.259C>T (p.Leu87=) rs2150305192
NM_004453.4(ETFDH):c.268T>C (p.Leu90=)
NM_004453.4(ETFDH):c.270G>A (p.Leu90=) rs2150305205
NM_004453.4(ETFDH):c.282T>C (p.His94=)
NM_004453.4(ETFDH):c.288G>A (p.Lys96=)
NM_004453.4(ETFDH):c.291C>T (p.Asp97=) rs2150305224
NM_004453.4(ETFDH):c.300G>A (p.Val100=) rs1580396868
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.330A>C (p.Gly110=) rs2150305251
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.348G>A (p.Gly116=)
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.35-4G>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.36A>G (p.Ala12=) rs201254467
NM_004453.4(ETFDH):c.387A>G (p.Pro129=) rs1295185280
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.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.406-5T>C
NM_004453.4(ETFDH):c.411A>C (p.Pro137=) rs1187372386
NM_004453.4(ETFDH):c.411A>G (p.Pro137=)
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.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.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+20C>A
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.488-6T>C
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.510C>G (p.Gly170=) rs747148665
NM_004453.4(ETFDH):c.51T>C (p.His17=)
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.54C>T (p.Ala18=)
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.582A>G (p.Val194=) rs2150306629
NM_004453.4(ETFDH):c.585C>T (p.Tyr195=)
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.607-12T>A
NM_004453.4(ETFDH):c.607-12dup rs527944729
NM_004453.4(ETFDH):c.607-15T>A
NM_004453.4(ETFDH):c.607-20_607-19del
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.624T>C (p.Asp208=)
NM_004453.4(ETFDH):c.630T>C (p.Ser210=) rs1456188483
NM_004453.4(ETFDH):c.639A>G (p.Gly213=)
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.657A>G (p.Val219=)
NM_004453.4(ETFDH):c.660G>C (p.Gly220=) rs2150309010
NM_004453.4(ETFDH):c.672T>C (p.Asp224=)
NM_004453.4(ETFDH):c.675T>C (p.Gly225=)
NM_004453.4(ETFDH):c.684+11T>C
NM_004453.4(ETFDH):c.684+19T>C
NM_004453.4(ETFDH):c.684+3_684+9dup rs773592713
NM_004453.4(ETFDH):c.684+7C>G
NM_004453.4(ETFDH):c.685-8C>G
NM_004453.4(ETFDH):c.685-9G>C
NM_004453.4(ETFDH):c.687A>G (p.Ala229=)
NM_004453.4(ETFDH):c.6G>C (p.Leu2=) rs2150300532
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.726A>G (p.Thr242=) rs2150310952
NM_004453.4(ETFDH):c.750A>T (p.Gly250=) rs2150310974
NM_004453.4(ETFDH):c.774G>A (p.Lys258=) rs1014508077
NM_004453.4(ETFDH):c.783T>C (p.Asp261=)
NM_004453.4(ETFDH):c.789A>G (p.Arg263=)
NM_004453.4(ETFDH):c.78A>G (p.Leu26=)
NM_004453.4(ETFDH):c.807A>G (p.Gln269=)
NM_004453.4(ETFDH):c.813C>T (p.Tyr271=)
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+8G>A
NM_004453.4(ETFDH):c.832-13T>C
NM_004453.4(ETFDH):c.832-16C>T
NM_004453.4(ETFDH):c.832-4_832-3insA
NM_004453.4(ETFDH):c.834A>G (p.Leu278=) rs761077518
NM_004453.4(ETFDH):c.867G>A (p.Gly289=) rs1774343547
NM_004453.4(ETFDH):c.879C>T (p.His293=) rs1774344228
NM_004453.4(ETFDH):c.888T>C (p.Gly296=) rs1174948040
NM_004453.4(ETFDH):c.897G>A (p.Leu299=)
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.924C>T (p.Phe308=) rs1261212490
NM_004453.4(ETFDH):c.927C>G (p.Leu309=)
NM_004453.4(ETFDH):c.933T>C (p.His311=) rs2150311727
NM_004453.4(ETFDH):c.936G>A (p.Leu312=)
NM_004453.4(ETFDH):c.939T>C (p.Asn313=) rs2150311730
NM_004453.4(ETFDH):c.942A>G (p.Glu314=)
NM_004453.4(ETFDH):c.951C>G (p.Pro317=)
NM_004453.4(ETFDH):c.952C>T (p.Leu318=) rs763002171
NM_004453.4(ETFDH):c.954A>G (p.Leu318=)
NM_004453.4(ETFDH):c.966T>C (p.Gly322=) rs2150311745
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+7T>A rs1580414056
NM_004453.4(ETFDH):c.973-13G>A
NM_004453.4(ETFDH):c.973-14T>C
NM_004453.4(ETFDH):c.973-17_973-16del
NM_004453.4(ETFDH):c.973-19A>G
NM_004453.4(ETFDH):c.973-9A>T
NM_004453.4(ETFDH):c.975T>C (p.Val325=) rs2150312198
NM_004453.4(ETFDH):c.978T>C (p.Gly326=)
NM_004453.4(ETFDH):c.981A>G (p.Leu327=) rs2150312206
NM_004453.4(ETFDH):c.996A>G (p.Pro332=) rs566071326

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