ClinVar Miner

List of variants studied for Multiple acyl-CoA dehydrogenase deficiency

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ClinVar version:
Total variants: 1617
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HGVS dbSNP gnomAD frequency
NM_000126.4(ETFA):c.*216A>T rs1803550 0.97654
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_000126.4(ETFA):c.817-3173C>G rs2456057 0.64613
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
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_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_001985.3(ETFB):c.58-318_58-313dup rs61361626 0.08041
NM_000126.4(ETFA):c.817-32A>G rs62030234 0.07095
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000126.4(ETFA):c.*268A>G rs80292319 0.03836
NM_000126.4(ETFA):c.733+38T>C rs78052129 0.03317
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_004453.3(ETFDH):c.-239G>A rs113981461 0.01253
NM_000126.4(ETFA):c.734-20C>A rs2460160 0.00787
NM_001985.3(ETFB):c.438+20C>T rs114985874 0.00662
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
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.447C>T (p.Phe149=) rs144640661 0.00334
NM_000126.4(ETFA):c.562+11A>T rs143834701 0.00311
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_000126.4(ETFA):c.*99G>A rs140121559 0.00250
NM_000126.4(ETFA):c.186+16G>T rs146932936 0.00249
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_000126.4(ETFA):c.*46C>T rs183981964 0.00123
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_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) rs142475999 0.00084
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.-61C>T rs377679439 0.00033
NM_004453.4(ETFDH):c.441T>C (p.Phe147=) rs138149265 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_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_001985.3(ETFB):c.541G>A (p.Val181Met) rs148443220 0.00022
NM_001985.3(ETFB):c.227G>A (p.Arg76His) rs148567433 0.00021
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.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_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_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) rs748346465 0.00010
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu) rs772351035 0.00010
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_004453.4(ETFDH):c.1764T>C (p.His588=) rs141180629 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_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys) rs376065198 0.00008
NM_000126.4(ETFA):c.882+5T>C rs377259058 0.00007
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_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_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 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.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_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.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_000126.4(ETFA):c.-7G>A rs779643894 0.00005
NM_000126.4(ETFA):c.451+14G>A rs557684539 0.00005
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.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_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) rs771466122 0.00005
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) rs146299082 0.00004
NM_000126.4(ETFA):c.345C>T (p.Phe115=) rs760557143 0.00004
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) rs754202690 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.705C>T (p.Ala235=) rs760012472 0.00004
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser) rs750230877 0.00004
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_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.346G>A (p.Gly116Arg) rs119458971 0.00003
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.728C>G (p.Ala243Gly) rs202121622 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.883-3C>T rs772701864 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_001985.3(ETFB):c.142G>A (p.Glu48Lys) rs750117869 0.00003
NM_001985.3(ETFB):c.217-4G>T rs149557388 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.618C>T (p.Ile206=) rs533794107 0.00003
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu) rs200877363 0.00003
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_000126.4(ETFA):c.148G>A (p.Glu50Lys) rs780880209 0.00002
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.494T>C (p.Val165Ala) rs749455172 0.00002
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter) rs199763682 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_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_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.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_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.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.268+3G>A rs1160396237 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.2T>C (p.Met1Thr) rs727503918 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.392C>T (p.Pro131Leu) rs1323414196 0.00001
NM_000126.4(ETFA):c.393G>A (p.Pro131=) rs769299291 0.00001
NM_000126.4(ETFA):c.39G>A (p.Ala13=) rs776956043 0.00001
NM_000126.4(ETFA):c.452-11del rs764215608 0.00001
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro) rs1398343360 0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) rs119458969 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.564A>G (p.Ala188=) rs752534473 0.00001
NM_000126.4(ETFA):c.625del (p.Arg209fs) rs1209473816 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.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.831T>C (p.Ala277=) rs371149279 0.00001
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu) rs778807824 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.932C>T (p.Ala311Val) rs1263820606 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.113T>C (p.Met38Thr) rs775541180 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.293G>A (p.Arg98His) rs761063406 0.00001
NM_001985.3(ETFB):c.438+5G>T rs1450691951 0.00001
NM_001985.3(ETFB):c.439-14C>T rs756770328 0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) rs148045813 0.00001
NM_001985.3(ETFB):c.57+16del rs529887209 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.58-57C>T rs766066977 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.597+8C>T rs758639864 0.00001
NM_001985.3(ETFB):c.598-14C>T rs750381743 0.00001
NM_001985.3(ETFB):c.645dup (p.Val216fs) rs1428088327 0.00001
NM_001985.3(ETFB):c.90C>A (p.Val30=) rs1986016385 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.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
NM_025207.5(FLAD1):c.508T>C (p.Phe170Leu) rs761928040 0.00001
NM_025207.5(FLAD1):c.568_569dup (p.Val191fs) rs876661310 0.00001
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) rs199979286 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
NC_000015.10:g.(?_76311340)_(76311398_?)del
NC_000015.9:g.(?_76508890)_(76603739_?)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.(?_76566733)_(76566855_?)del
NC_000015.9:g.(?_76566733)_(76603729_?)del
NC_000015.9:g.(?_76566743)_(76588088_?)del
NC_000015.9:g.(?_76580177)_(76585051_?)del
NC_000015.9:g.(?_76603671)_(76603729_?)dup
NC_000019.9:g.(?_51727962)_(51890697_?)del
NC_000019.9:g.(?_51848465)_(51850332_?)del
NC_000019.9:g.(?_51848465)_(51856564_?)dup
NC_000019.9:g.(?_51850134)_(51869580_?)del
NC_000019.9:g.(?_51869504)_(51869580_?)del
NM_000126.4(ETFA):c.*27_*30del rs2142101078
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.120C>T (p.Thr40=)
NM_000126.4(ETFA):c.126T>G (p.Thr42=)
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)
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.15_25dup (p.Gln9fs) rs1384386872
NM_000126.4(ETFA):c.163G>A (p.Val55Ile) rs1035217923
NM_000126.4(ETFA):c.165A>G (p.Val55=) rs2039810025
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
NM_000126.4(ETFA):c.177del (p.Lys59fs)
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
NM_000126.4(ETFA):c.183C>T (p.Asp61=) rs2141543697
NM_000126.4(ETFA):c.186+1G>A rs2141543695
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.187-3T>C
NM_000126.4(ETFA):c.189G>A (p.Val63=) rs1179483198
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)
NM_000126.4(ETFA):c.1A>G (p.Met1Val)
NM_000126.4(ETFA):c.201C>G (p.Leu67=) rs1250916782
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
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.218T>C (p.Ile73Thr) rs2039778846
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.226del (p.Val76fs)
NM_000126.4(ETFA):c.228T>C (p.Val76=) rs1277270558
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)
NM_000126.4(ETFA):c.240G>A (p.Gln80=) rs2141540395
NM_000126.4(ETFA):c.242A>C (p.His81Pro)
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
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.263T>C (p.Leu88Pro) rs1400343293
NM_000126.4(ETFA):c.264T>G (p.Leu88=) rs1405829462
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser) rs2039778041
NM_000126.4(ETFA):c.266del (p.Pro89fs)
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.268+1G>A
NM_000126.4(ETFA):c.268+1G>C
NM_000126.4(ETFA):c.269-15G>T
NM_000126.4(ETFA):c.269-19A>G
NM_000126.4(ETFA):c.269-2A>G
NM_000126.4(ETFA):c.269-5C>A
NM_000126.4(ETFA):c.269-8A>G rs1440046169
NM_000126.4(ETFA):c.282A>G (p.Pro94=)
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
NM_000126.4(ETFA):c.285del (p.Ile96fs) rs2039775781
NM_000126.4(ETFA):c.288T>C (p.Ile96=)
NM_000126.4(ETFA):c.294A>C (p.Ala98=) rs1458002715
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
NM_000126.4(ETFA):c.297T>C (p.Thr99=) rs2141540022
NM_000126.4(ETFA):c.297T>G (p.Thr99=)
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
NM_000126.4(ETFA):c.300G>T (p.Gln100His) rs948361766
NM_000126.4(ETFA):c.303G>A (p.Lys101=)
NM_000126.4(ETFA):c.30C>G (p.Leu10=) rs1042921735
NM_000126.4(ETFA):c.311_312del (p.Asn104fs)
NM_000126.4(ETFA):c.319_322del (p.His107fs) rs866218814
NM_000126.4(ETFA):c.321_322del (p.Ile108fs) rs866218814
NM_000126.4(ETFA):c.322_323del (p.Ile108fs)
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn) rs1414148078
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
NM_000126.4(ETFA):c.324C>A (p.Ile108=) rs753701756
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.33G>C (p.Arg11=)
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)
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+1G>A
NM_000126.4(ETFA):c.351+20G>A
NM_000126.4(ETFA):c.351+2T>C
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.352-1G>A
NM_000126.4(ETFA):c.352-2A>G
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.365G>A (p.Arg122Lys)
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.369A>T (p.Val123=)
NM_000126.4(ETFA):c.369dup (p.Ala124fs)
NM_000126.4(ETFA):c.36G>A (p.Arg12=) rs1299355915
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)
NM_000126.4(ETFA):c.372A>C (p.Ala124=)
NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) rs910012804
NM_000126.4(ETFA):c.37dup (p.Ala13fs)
NM_000126.4(ETFA):c.384G>A (p.Glu128=)
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
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+1G>A
NM_000126.4(ETFA):c.39+1G>T
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.40-19del
NM_000126.4(ETFA):c.40-19dup rs755841159
NM_000126.4(ETFA):c.40-20_40-19dup
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.405C>G (p.Ile135Met)
NM_000126.4(ETFA):c.422del (p.Pro141fs)
NM_000126.4(ETFA):c.423T>C (p.Pro141=) rs2141533520
NM_000126.4(ETFA):c.426C>T (p.Asp142=)
NM_000126.4(ETFA):c.427dup (p.Thr143fs) rs2039717357
NM_000126.4(ETFA):c.429A>C (p.Thr143=) rs2141533504
NM_000126.4(ETFA):c.429A>G (p.Thr143=)
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser) rs755055339
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.44C>A (p.Ser15Ter) rs1047426224
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.451+1G>A
NM_000126.4(ETFA):c.451+1G>T
NM_000126.4(ETFA):c.452-13T>A
NM_000126.4(ETFA):c.452-17T>C
NM_000126.4(ETFA):c.452-2A>G rs2141531787
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.461T>C (p.Leu154Pro) rs1286837897
NM_000126.4(ETFA):c.461dup (p.Cys155fs)
NM_000126.4(ETFA):c.462A>C (p.Leu154=) rs2039705956
NM_000126.4(ETFA):c.462A>G (p.Leu154=)
NM_000126.4(ETFA):c.465T>A (p.Cys155Ter)
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile) rs199597352
NM_000126.4(ETFA):c.468A>C (p.Thr156=) rs775043427
NM_000126.4(ETFA):c.471G>A (p.Val157=)
NM_000126.4(ETFA):c.478del (p.Asp160fs) rs2039705645
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
NM_000126.4(ETFA):c.495G>A (p.Val165=)
NM_000126.4(ETFA):c.495_496del (p.Ser167fs) rs1298299792
NM_000126.4(ETFA):c.510_511del (p.Thr171fs)
NM_000126.4(ETFA):c.513A>G (p.Thr171=)
NM_000126.4(ETFA):c.516del (p.Phe173fs)
NM_000126.4(ETFA):c.51A>G (p.Leu17=)
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.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.556G>T (p.Glu186Ter)
NM_000126.4(ETFA):c.558A>G (p.Glu186=) rs2141531548
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg) rs2141531541
NM_000126.4(ETFA):c.560del (p.Lys187fs)
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+1G>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.592G>C (p.Glu198Gln) rs2141530756
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)
NM_000126.4(ETFA):c.594G>A (p.Glu198=)
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)
NM_000126.4(ETFA):c.603C>T (p.Asp201=)
NM_000126.4(ETFA):c.624del (p.Arg209fs) rs1596218695
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly) rs199763682
NM_000126.4(ETFA):c.629dup (p.Glu211fs)
NM_000126.4(ETFA):c.630A>G (p.Pro210=)
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
NM_000126.4(ETFA):c.632_640del (p.Glu211_Thr213del)
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg) rs1596224387
NM_000126.4(ETFA):c.650_653dup (p.Val219fs)
NM_000126.4(ETFA):c.657A>G (p.Val219=)
NM_000126.4(ETFA):c.658_664+3del
NM_000126.4(ETFA):c.660T>C (p.Ser220=)
NM_000126.4(ETFA):c.664+16A>C
NM_000126.4(ETFA):c.664+1G>A rs2039698086
NM_000126.4(ETFA):c.664+20T>C
NM_000126.4(ETFA):c.664+2dup
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.665-17del rs144403864
NM_000126.4(ETFA):c.665-17dup rs144403864
NM_000126.4(ETFA):c.665-18T>C
NM_000126.4(ETFA):c.665-1G>A
NM_000126.4(ETFA):c.665-4T>C
NM_000126.4(ETFA):c.667C>A (p.Arg223=) rs769976586
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.687G>A (p.Glu229=)
NM_000126.4(ETFA):c.689dup (p.Asn230fs)
NM_000126.4(ETFA):c.693dup (p.Lys232Ter) rs754050501
NM_000126.4(ETFA):c.696G>A (p.Lys232=)
NM_000126.4(ETFA):c.69G>A (p.Leu23=)
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)
NM_000126.4(ETFA):c.700T>C (p.Leu234=)
NM_000126.4(ETFA):c.702A>G (p.Leu234=) rs775620228
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr) rs2141528171
NM_000126.4(ETFA):c.721C>T (p.Leu241=)
NM_000126.4(ETFA):c.723A>G (p.Leu241=) rs2141528126
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
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.734-1_744del
NM_000126.4(ETFA):c.734-2A>G
NM_000126.4(ETFA):c.734-8C>T
NM_000126.4(ETFA):c.734-9del
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys) rs1353938548
NM_000126.4(ETFA):c.750T>C (p.Ala250=)
NM_000126.4(ETFA):c.765C>A (p.Gly255=) rs2141516311
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
NM_000126.4(ETFA):c.77C>T (p.Ala26Val) rs1389901296
NM_000126.4(ETFA):c.780C>T (p.Asp260=)
NM_000126.4(ETFA):c.786A>G (p.Gln262=)
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter) rs757409121
NM_000126.4(ETFA):c.798G>A (p.Thr266=) rs764478797
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys) rs2141543849
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter) rs1475984278
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.810A>G (p.Val270=)
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
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.817-2A>G
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.817-8del
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.826_833dup (p.Gly279fs)
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.838A>C (p.Ile280Leu)
NM_000126.4(ETFA):c.84T>C (p.His28=)
NM_000126.4(ETFA):c.864T>G (p.Ala288=)
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
NM_000126.4(ETFA):c.867G>A (p.Gly289=)
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+14A>T
NM_000126.4(ETFA):c.882+15G>A
NM_000126.4(ETFA):c.882+3A>G
NM_000126.4(ETFA):c.882+6T>G rs746311782
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.883-1_885del
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.884_886del (p.Thr295del) rs2038999395
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp) rs2039810890
NM_000126.4(ETFA):c.891G>C (p.Val297=) rs2142108075
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro) rs2141564581
NM_000126.4(ETFA):c.909A>G (p.Pro303=) rs2142108061
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
NM_000126.4(ETFA):c.927A>G (p.Gln309=)
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
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.946G>C (p.Val316Leu) rs1567195832
NM_000126.4(ETFA):c.946G>T (p.Val316Phe) rs1567195832
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+1del rs746488455
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.964-1G>A
NM_000126.4(ETFA):c.964-20C>G rs570818940
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.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_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.122T>C (p.Phe41Ser) rs746082442
NM_001985.3(ETFB):c.123C>T (p.Phe41=)
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)
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.136del (p.Val46fs)
NM_001985.3(ETFB):c.138G>C (p.Val46=) rs537142189
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.156C>G (p.Leu52=)
NM_001985.3(ETFB):c.15C>T (p.Arg5=)
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)
NM_001985.3(ETFB):c.174G>A (p.Val58=)
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
NM_001985.3(ETFB):c.180G>A (p.Glu60=)
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)
NM_001985.3(ETFB):c.186C>T (p.Ile62=)
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)
NM_001985.3(ETFB):c.201G>A (p.Gly67=)
NM_001985.3(ETFB):c.208del (p.Gln70fs)
NM_001985.3(ETFB):c.214C>T (p.Gln72Ter)
NM_001985.3(ETFB):c.216+10G>A
NM_001985.3(ETFB):c.216+12C>T
NM_001985.3(ETFB):c.216+18del
NM_001985.3(ETFB):c.216+1G>C
NM_001985.3(ETFB):c.216+20G>C
NM_001985.3(ETFB):c.216+2T>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.22G>A (p.Val8Ile) rs531136177
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)
NM_001985.3(ETFB):c.231C>T (p.Thr77=)
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr) rs1352787179
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.253C>T (p.Arg85Ter) rs187424345
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.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.284_293del (p.Glu95fs) rs2123587098
NM_001985.3(ETFB):c.285A>G (p.Glu95=)
NM_001985.3(ETFB):c.297G>A (p.Leu99=)
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
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.326C>A (p.Ala109Asp)
NM_001985.3(ETFB):c.327C>A (p.Ala109=)
NM_001985.3(ETFB):c.32dup (p.Arg12fs)
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)
NM_001985.3(ETFB):c.33G>A (p.Lys11=)
NM_001985.3(ETFB):c.341_342delinsT (p.Lys114fs)
NM_001985.3(ETFB):c.341_375+154del
NM_001985.3(ETFB):c.343_345del (p.Glu115del)
NM_001985.3(ETFB):c.351G>A (p.Val117=)
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
NM_001985.3(ETFB):c.355C>T (p.Leu119=)
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)
NM_001985.3(ETFB):c.362del (p.Leu121fs)
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+1G>A
NM_001985.3(ETFB):c.375+1G>C
NM_001985.3(ETFB):c.375+1G>T
NM_001985.3(ETFB):c.375+6T>G
NM_001985.3(ETFB):c.375+7G>C
NM_001985.3(ETFB):c.375G>C (p.Gln125His)
NM_001985.3(ETFB):c.376-12C>T
NM_001985.3(ETFB):c.376-2A>C
NM_001985.3(ETFB):c.376-7C>T
NM_001985.3(ETFB):c.381C>T (p.Ile127=)
NM_001985.3(ETFB):c.386dup (p.Asp129fs)
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)
NM_001985.3(ETFB):c.414A>G (p.Thr138=) rs1178011139
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer) rs2123580195
NM_001985.3(ETFB):c.438+12G>T
NM_001985.3(ETFB):c.438+13T>G
NM_001985.3(ETFB):c.438+4A>G
NM_001985.3(ETFB):c.438+5G>A
NM_001985.3(ETFB):c.438+7C>T
NM_001985.3(ETFB):c.439-18T>C
NM_001985.3(ETFB):c.439-1G>A
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.454C>T (p.Gln152Ter)
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.491G>A (p.Arg164Gln) rs104894677
NM_001985.3(ETFB):c.492G>A (p.Arg164=)
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
NM_001985.3(ETFB):c.498C>T (p.Ile166=) rs150636733
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.504G>C (p.Gly168=)
NM_001985.3(ETFB):c.519G>C (p.Leu173=) rs933129897
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.531G>A (p.Leu177=)
NM_001985.3(ETFB):c.53T>G (p.Val18Gly)
NM_001985.3(ETFB):c.553C>T (p.Leu185=)
NM_001985.3(ETFB):c.564C>A (p.Asn188Lys)
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.58-196_58-194del rs768440463
NM_001985.3(ETFB):c.58-20C>T
NM_001985.3(ETFB):c.58-27C>T
NM_001985.3(ETFB):c.58-57dup rs74357706
NM_001985.3(ETFB):c.58-8_58-6del
NM_001985.3(ETFB):c.588C>G (p.Pro196=)
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp) rs747411704
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.598-1del rs750961823
NM_001985.3(ETFB):c.598-3C>T
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.59_63dup
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del) rs767519060
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)
NM_001985.3(ETFB):c.61C>A (p.Arg21=)
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
NM_001985.3(ETFB):c.61del (p.Arg21fs)
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.632del (p.Pro211fs)
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.671_672del (p.Val224fs)
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys) rs2123567525
NM_001985.3(ETFB):c.690G>A (p.Pro230=)
NM_001985.3(ETFB):c.694C>T (p.Gln232Ter)
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys) rs761714465
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.706G>C (p.Gly236Arg)
NM_001985.3(ETFB):c.715G>A (p.Val239Met)
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.760C>T (p.Arg254Trp) rs370522844
NM_001985.3(ETFB):c.762G>T (p.Arg254=) rs2123567151
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)
NM_001985.3(ETFB):c.93G>C (p.Thr31=)
NM_001985.3(ETFB):c.94del (p.Asp32fs)
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)
NM_001985.3(ETFB):c.99T>C (p.Gly33=) rs2123591146
NM_001985.3(ETFB):c.9G>A (p.Glu3=) rs2123621091
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.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.1209A>C (p.Ala403=) rs1198347315
NM_004453.4(ETFDH):c.1210A>C (p.Met404Leu)
NM_004453.4(ETFDH):c.1210A>T (p.Met404Leu)
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.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.1469-17C>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>T rs1561251640
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.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.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.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.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.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.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>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.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.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.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+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.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>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.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>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.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.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>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.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+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.685-1G>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.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>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.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.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.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.973-1G>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.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
NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del) rs876661309
NM_025207.5(FLAD1):c.324del (p.Arg109fs) rs876661314
NM_025207.5(FLAD1):c.401_404del (p.Phe134fs) rs876661313
NM_025207.5(FLAD1):c.498del (p.Ser167fs) rs876661315
NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs) rs876661312
NM_025207.5(FLAD1):c.836del (p.Phe279fs) rs876661311
Single allele

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