NM_000126.4(ETFA):c.*99G>A
|
rs140121559
|
0.00250
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
NM_000126.4(ETFA):c.*46C>T
|
rs183981964
|
0.00123
|
NM_004453.4(ETFDH):c.-97G>A
|
rs183609368
|
0.00099
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
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.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_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_001985.3(ETFB):c.541G>A (p.Val181Met)
|
rs148443220
|
0.00022
|
NM_001985.3(ETFB):c.227G>A (p.Arg76His)
|
rs148567433
|
0.00021
|
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)
|
rs375172942
|
0.00019
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00016
|
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.*53del
|
rs753793193
|
0.00013
|
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser)
|
rs372591001
|
0.00012
|
NM_000126.4(ETFA):c.-9G>T
|
rs754953251
|
0.00011
|
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)
|
rs148261223
|
0.00011
|
NM_004453.3(ETFDH):c.-315G>A
|
rs886059192
|
0.00011
|
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg)
|
rs200611086
|
0.00011
|
NM_000126.4(ETFA):c.882+5T>C
|
rs377259058
|
0.00010
|
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser)
|
rs748346465
|
0.00010
|
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu)
|
rs772351035
|
0.00010
|
NM_000126.4(ETFA):c.-59C>T
|
rs80155214
|
0.00009
|
NM_000126.4(ETFA):c.11C>T (p.Ala4Val)
|
rs761552468
|
0.00009
|
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)
|
rs377544087
|
0.00009
|
NM_000126.4(ETFA):c.-56C>A
|
rs548701046
|
0.00008
|
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys)
|
rs369713466
|
0.00008
|
NM_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_001985.3(ETFB):c.118C>A (p.Pro40Thr)
|
rs772322071
|
0.00006
|
NM_001985.3(ETFB):c.184A>G (p.Ile62Val)
|
rs199705168
|
0.00006
|
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser)
|
rs375326450
|
0.00006
|
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)
|
rs1131691336
|
0.00006
|
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His)
|
rs757842479
|
0.00006
|
NM_000126.4(ETFA):c.-7G>A
|
rs779643894
|
0.00005
|
NM_004453.4(ETFDH):c.831+4T>C
|
rs752971257
|
0.00005
|
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val)
|
rs761854400
|
0.00005
|
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)
|
rs146299082
|
0.00004
|
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser)
|
rs374127169
|
0.00004
|
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly)
|
rs986861899
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr)
|
rs151108898
|
0.00004
|
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala)
|
rs143568332
|
0.00004
|
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser)
|
rs750230877
|
0.00004
|
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)
|
rs746598421
|
0.00004
|
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln)
|
rs771456968
|
0.00004
|
NM_004453.4(ETFDH):c.1690+4A>G
|
rs752590057
|
0.00004
|
NM_004453.4(ETFDH):c.488-12A>C
|
rs180889150
|
0.00004
|
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)
|
rs762928354
|
0.00004
|
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly)
|
rs201888260
|
0.00003
|
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp)
|
rs758004001
|
0.00003
|
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)
|
rs202121622
|
0.00003
|
NM_000126.4(ETFA):c.883-3C>T
|
rs772701864
|
0.00003
|
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys)
|
rs750117869
|
0.00003
|
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)
|
rs548046212
|
0.00003
|
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)
|
rs758509148
|
0.00003
|
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)
|
rs920672041
|
0.00003
|
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu)
|
rs200877363
|
0.00003
|
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)
|
rs201823591
|
0.00003
|
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu)
|
rs752947878
|
0.00003
|
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr)
|
rs1340326448
|
0.00003
|
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys)
|
rs780880209
|
0.00002
|
NM_000126.4(ETFA):c.919A>G (p.Ile307Val)
|
rs373896010
|
0.00002
|
NM_000126.4(ETFA):c.964-1G>C
|
rs757885420
|
0.00002
|
NM_000126.4(ETFA):c.967G>A (p.Val323Ile)
|
rs1225887341
|
0.00002
|
NM_001985.3(ETFB):c.134C>T (p.Ala45Val)
|
rs770414295
|
0.00002
|
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp)
|
rs748730384
|
0.00002
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr)
|
rs1255214567
|
0.00002
|
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp)
|
rs763912783
|
0.00002
|
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)
|
rs767249944
|
0.00002
|
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn)
|
rs758859840
|
0.00002
|
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala)
|
rs398124154
|
0.00002
|
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala)
|
rs182144074
|
0.00002
|
NM_000126.4(ETFA):c.-40G>A
|
rs1057521597
|
0.00001
|
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu)
|
rs201424632
|
0.00001
|
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser)
|
rs1166705959
|
0.00001
|
NM_000126.4(ETFA):c.268+3G>A
|
rs1160396237
|
0.00001
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu)
|
rs1323414196
|
0.00001
|
NM_000126.4(ETFA):c.39G>A (p.Ala13=)
|
rs776956043
|
0.00001
|
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro)
|
rs1398343360
|
0.00001
|
NM_000126.4(ETFA):c.506G>A (p.Arg169His)
|
rs375660532
|
0.00001
|
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu)
|
rs780998008
|
0.00001
|
NM_000126.4(ETFA):c.746G>A (p.Arg249His)
|
rs886051488
|
0.00001
|
NM_000126.4(ETFA):c.759T>C (p.Asp253=)
|
rs142970498
|
0.00001
|
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
|
rs773298687
|
0.00001
|
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp)
|
rs772068605
|
0.00001
|
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu)
|
rs778807824
|
0.00001
|
NM_000126.4(ETFA):c.932C>T (p.Ala311Val)
|
rs1263820606
|
0.00001
|
NM_001985.3(ETFB):c.113T>C (p.Met38Thr)
|
rs775541180
|
0.00001
|
NM_001985.3(ETFB):c.293G>A (p.Arg98His)
|
rs761063406
|
0.00001
|
NM_001985.3(ETFB):c.438+5G>T
|
rs1450691951
|
0.00001
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
NM_001985.3(ETFB):c.572G>A (p.Arg191His)
|
rs769951998
|
0.00001
|
NM_001985.3(ETFB):c.58-87A>C
|
rs1986023015
|
0.00001
|
NM_001985.3(ETFB):c.597+6C>T
|
rs539989327
|
0.00001
|
NM_001985.3(ETFB):c.645dup (p.Val216fs)
|
rs1428088327
|
0.00001
|
NM_001985.3(ETFB):c.92C>T (p.Thr31Met)
|
rs371751519
|
0.00001
|
NM_004453.4(ETFDH):c.-77C>G
|
rs1296122115
|
0.00001
|
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr)
|
rs770140708
|
0.00001
|
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg)
|
rs1452265763
|
0.00001
|
NM_004453.4(ETFDH):c.1036C>T (p.His346Tyr)
|
rs749456492
|
0.00001
|
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)
|
rs776428695
|
0.00001
|
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr)
|
rs1774520171
|
0.00001
|
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser)
|
rs574791445
|
0.00001
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)
|
rs760234838
|
0.00001
|
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu)
|
rs763536356
|
0.00001
|
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His)
|
rs750799644
|
0.00001
|
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro)
|
rs1404615636
|
0.00001
|
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg)
|
rs989125087
|
0.00001
|
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro)
|
rs751839607
|
0.00001
|
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp)
|
rs774810601
|
0.00001
|
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser)
|
rs937646249
|
0.00001
|
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
|
rs754795292
|
0.00001
|
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
|
rs1408118210
|
0.00001
|
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)
|
rs747312700
|
0.00001
|
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys)
|
rs1279728239
|
0.00001
|
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln)
|
rs768961719
|
0.00001
|
NM_004453.4(ETFDH):c.1678T>C (p.Phe560Leu)
|
rs374585539
|
0.00001
|
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)
|
rs755342205
|
0.00001
|
NM_004453.4(ETFDH):c.1813G>T (p.Val605Leu)
|
rs1774702955
|
0.00001
|
NM_004453.4(ETFDH):c.1823G>A (p.Gly608Asp)
|
rs1303489545
|
0.00001
|
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)
|
rs765742496
|
0.00001
|
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys)
|
rs1242099513
|
0.00001
|
NM_004453.4(ETFDH):c.257G>A (p.Arg86His)
|
rs777655131
|
0.00001
|
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
|
rs751256504
|
0.00001
|
NM_004453.4(ETFDH):c.472G>A (p.Val158Met)
|
rs774614480
|
0.00001
|
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala)
|
rs201067972
|
0.00001
|
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)
|
rs141407224
|
0.00001
|
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile)
|
rs999532162
|
0.00001
|
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr)
|
rs1397900640
|
0.00001
|
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)
|
rs1448673327
|
0.00001
|
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)
|
rs371260517
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)
|
rs763541530
|
0.00001
|
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)
|
rs754082348
|
0.00001
|
NM_004453.4(ETFDH):c.843T>A (p.Ile281=)
|
rs765239908
|
0.00001
|
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser)
|
rs748958949
|
0.00001
|
NM_004453.4(ETFDH):c.937A>G (p.Asn313Asp)
|
rs762031780
|
0.00001
|
NM_004453.4(ETFDH):c.940G>C (p.Glu314Gln)
|
rs201579588
|
0.00001
|
NM_004453.4(ETFDH):c.950C>T (p.Pro317Leu)
|
rs1394204740
|
0.00001
|
NC_000004.11:g.(?_159593609)_(159616815_?)dup
|
|
|
NC_000004.11:g.(?_159593609)_(159629679_?)dup
|
|
|
NC_000015.9:g.(?_76508900)_(76518290_?)del
|
|
|
NC_000015.9:g.(?_76508900)_(76603729_?)dup
|
|
|
NC_000015.9:g.(?_76518170)_(76518290_?)del
|
|
|
NC_000015.9:g.(?_76523654)_(76523759_?)del
|
|
|
NC_000015.9:g.(?_76603671)_(76603729_?)dup
|
|
|
NC_000019.9:g.(?_51848465)_(51856564_?)dup
|
|
|
NM_000126.4(ETFA):c.*55C>G
|
rs886051487
|
|
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)
|
|
|
NM_000126.4(ETFA):c.-42C>T
|
rs546128998
|
|
NM_000126.4(ETFA):c.-71T>G
|
rs116149551
|
|
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)
|
|
|
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)
|
|
|
NM_000126.4(ETFA):c.163G>A (p.Val55Ile)
|
rs1035217923
|
|
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
|
|
|
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
|
|
|
NM_000126.4(ETFA):c.187-3T>C
|
|
|
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr)
|
rs2039778846
|
|
NM_000126.4(ETFA):c.242A>C (p.His81Pro)
|
|
|
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
|
|
|
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro)
|
rs1400343293
|
|
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser)
|
rs2039778041
|
|
NM_000126.4(ETFA):c.269-8A>G
|
rs1440046169
|
|
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
|
|
|
NM_000126.4(ETFA):c.300G>T (p.Gln100His)
|
rs948361766
|
|
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn)
|
rs1414148078
|
|
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
|
|
|
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)
|
|
|
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)
|
|
|
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)
|
|
|
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)
|
|
|
NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
|
NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
|
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
|
rs2039718120
|
|
NM_000126.4(ETFA):c.367G>A (p.Val123Ile)
|
rs886051489
|
|
NM_000126.4(ETFA):c.36G>A (p.Arg12=)
|
rs1299355915
|
|
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)
|
rs910012804
|
|
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
|
|
|
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)
|
|
|
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser)
|
rs755055339
|
|
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro)
|
rs1286837897
|
|
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile)
|
rs199597352
|
|
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
|
|
|
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala)
|
rs1396125343
|
|
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)
|
|
|
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)
|
|
|
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg)
|
rs2141531541
|
|
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln)
|
rs2141530756
|
|
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly)
|
rs199763682
|
|
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
|
|
|
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg)
|
rs1596224387
|
|
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
|
|
|
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
|
rs370375322
|
|
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg)
|
rs1390694827
|
|
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)
|
|
|
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)
|
|
|
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr)
|
rs2141528171
|
|
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
|
|
|
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys)
|
rs1353938548
|
|
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
|
|
|
NM_000126.4(ETFA):c.77C>T (p.Ala26Val)
|
rs1389901296
|
|
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys)
|
rs2141543849
|
|
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
|
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
|
|
|
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)
|
|
|
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
|
|
|
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln)
|
rs1184566559
|
|
NM_000126.4(ETFA):c.882+10C>T
|
rs2039064081
|
|
NM_000126.4(ETFA):c.882+3A>G
|
|
|
NM_000126.4(ETFA):c.882+6T>G
|
rs746311782
|
|
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp)
|
rs2039810890
|
|
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro)
|
rs2141564581
|
|
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
|
|
|
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
|
|
|
NM_000126.4(ETFA):c.946G>C (p.Val316Leu)
|
rs1567195832
|
|
NM_000126.4(ETFA):c.946G>T (p.Val316Phe)
|
rs1567195832
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys)
|
rs2038898400
|
|
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)
|
|
|
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)
|
|
|
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)
|
|
|
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser)
|
rs746082442
|
|
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu)
|
|
|
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly)
|
|
|
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln)
|
|
|
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)
|
|
|
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)
|
|
|
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)
|
|
|
NM_001985.3(ETFB):c.22G>A (p.Val8Ile)
|
rs531136177
|
|
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)
|
|
|
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr)
|
rs1352787179
|
|
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)
|
|
|
NM_001985.3(ETFB):c.257G>T (p.Gly86Val)
|
|
|
NM_001985.3(ETFB):c.259A>G (p.Ile87Val)
|
rs2123587270
|
|
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
|
|
|
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp)
|
|
|
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)
|
|
|
NM_001985.3(ETFB):c.343_345del (p.Glu115del)
|
|
|
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
|
|
|
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)
|
|
|
NM_001985.3(ETFB):c.375+6T>G
|
|
|
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)
|
|
|
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)
|
|
|
NM_001985.3(ETFB):c.438+4A>G
|
|
|
NM_001985.3(ETFB):c.438+5G>A
|
|
|
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
|
|
|
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn)
|
|
|
NM_001985.3(ETFB):c.499G>C (p.Asp167His)
|
rs140614695
|
|
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser)
|
|
|
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly)
|
rs755539437
|
|
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)
|
|
|
NM_001985.3(ETFB):c.52G>T (p.Val18Leu)
|
|
|
NM_001985.3(ETFB):c.53T>G (p.Val18Gly)
|
|
|
NM_001985.3(ETFB):c.58-196_58-194del
|
rs768440463
|
|
NM_001985.3(ETFB):c.58-27C>T
|
|
|
NM_001985.3(ETFB):c.58-57dup
|
rs74357706
|
|
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp)
|
rs747411704
|
|
NM_001985.3(ETFB):c.598-3C>T
|
|
|
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del)
|
rs767519060
|
|
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)
|
|
|
NM_001985.3(ETFB):c.622G>A (p.Val208Met)
|
|
|
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln)
|
rs369216610
|
|
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser)
|
|
|
NM_001985.3(ETFB):c.632C>A (p.Pro211His)
|
rs760907327
|
|
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys)
|
rs2123567525
|
|
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys)
|
rs761714465
|
|
NM_001985.3(ETFB):c.706G>C (p.Gly236Arg)
|
|
|
NM_001985.3(ETFB):c.715G>A (p.Val239Met)
|
|
|
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp)
|
rs370522844
|
|
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)
|
|
|
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)
|
|
|
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)
|
|
|
NM_004453.3(ETFDH):c.-174A>G
|
rs886059193
|
|
NM_004453.4(ETFDH):c.*67T>G
|
rs1774708906
|
|
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr)
|
|
|
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg)
|
|
|
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala)
|
|
|
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn)
|
rs2150312268
|
|
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala)
|
rs2150312279
|
|
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser)
|
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
NM_004453.4(ETFDH):c.1108G>A (p.Gly370Ser)
|
rs1774393063
|
|
NM_004453.4(ETFDH):c.1116+2T>C
|
rs1561247874
|
|
NM_004453.4(ETFDH):c.1116+6T>C
|
rs1561247878
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
NM_004453.4(ETFDH):c.1116G>C (p.Gln372His)
|
|
|
NM_004453.4(ETFDH):c.1117-11T>C
|
rs917132143
|
|
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro)
|
rs1774518301
|
|
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe)
|
rs1774518388
|
|
NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val)
|
|
|
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser)
|
rs2126309213
|
|
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys)
|
|
|
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)
|
|
|
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser)
|
|
|
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile)
|
|
|
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr)
|
|
|
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)
|
rs1284823413
|
|
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg)
|
|
|
NM_004453.4(ETFDH):c.1286-13T>C
|
|
|
NM_004453.4(ETFDH):c.1286-15T>A
|
rs1248795834
|
|
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn)
|
|
|
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln)
|
rs1431935282
|
|
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val)
|
rs766776740
|
|
NM_004453.4(ETFDH):c.1360A>T (p.Ile454Leu)
|
rs766776740
|
|
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr)
|
rs2126314946
|
|
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val)
|
|
|
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)
|
rs1561251388
|
|
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu)
|
rs1774612717
|
|
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala)
|
rs924962456
|
|
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=)
|
rs1774613217
|
|
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met)
|
rs2126315307
|
|
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr)
|
rs1774615246
|
|
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys)
|
rs1774615624
|
|
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)
|
rs143873407
|
|
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro)
|
rs1774616683
|
|
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu)
|
|
|
NM_004453.4(ETFDH):c.1469-8T>C
|
rs1774625470
|
|
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe)
|
|
|
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)
|
|
|
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His)
|
rs1445646586
|
|
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr)
|
|
|
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn)
|
rs2150304401
|
|
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
|
rs533097197
|
|
NM_004453.4(ETFDH):c.1573A>C (p.Ser525Arg)
|
|
|
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp)
|
|
|
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys)
|
rs2126316568
|
|
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
|
|
|
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val)
|
|
|
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn)
|
|
|
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr)
|
|
|
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg)
|
|
|
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu)
|
|
|
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr)
|
|
|
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu)
|
rs2126316873
|
|
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu)
|
|
|
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu)
|
|
|
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)
|
|
|
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser)
|
rs867281765
|
|
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg)
|
rs760578708
|
|
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg)
|
rs749989069
|
|
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu)
|
|
|
NM_004453.4(ETFDH):c.1759G>A (p.Val587Ile)
|
|
|
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu)
|
|
|
NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr)
|
|
|
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup)
|
rs1774700761
|
|
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn)
|
|
|
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His)
|
|
|
NM_004453.4(ETFDH):c.1802T>A (p.Ile601Asn)
|
|
|
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr)
|
rs1292587000
|
|
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser)
|
|
|
NM_004453.4(ETFDH):c.1840T>A (p.Tyr614Asn)
|
|
|
NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu)
|
rs765742496
|
|
NM_004453.4(ETFDH):c.191G>C (p.Arg64Thr)
|
|
|
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile)
|
|
|
NM_004453.4(ETFDH):c.235G>A (p.Ala79Thr)
|
|
|
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)
|
rs1175266968
|
|
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser)
|
|
|
NM_004453.4(ETFDH):c.271G>T (p.Ala91Ser)
|
rs1208091864
|
|
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp)
|
rs1773880547
|
|
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly)
|
rs1580396806
|
|
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)
|
|
|
NM_004453.4(ETFDH):c.334C>A (p.His112Asn)
|
rs1773883564
|
|
NM_004453.4(ETFDH):c.34+5G>A
|
|
|
NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr)
|
|
|
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro)
|
rs763106795
|
|
NM_004453.4(ETFDH):c.35-3C>A
|
rs1554031296
|
|
NM_004453.4(ETFDH):c.352T>G (p.Cys118Gly)
|
rs2150305281
|
|
NM_004453.4(ETFDH):c.353G>T (p.Cys118Phe)
|
rs1467428857
|
|
NM_004453.4(ETFDH):c.358G>C (p.Asp120His)
|
|
|
NM_004453.4(ETFDH):c.359A>G (p.Asp120Gly)
|
rs1773885189
|
|
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu)
|
|
|
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys)
|
rs1773885660
|
|
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser)
|
rs985343342
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004453.4(ETFDH):c.405G>A (p.Gly135=)
|
|
|
NM_004453.4(ETFDH):c.410C>T (p.Pro137Leu)
|
|
|
NM_004453.4(ETFDH):c.42G>C (p.Gln14His)
|
|
|
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser)
|
|
|
NM_004453.4(ETFDH):c.444A>C (p.Gly148=)
|
rs1773954457
|
|
NM_004453.4(ETFDH):c.454G>C (p.Glu152Gln)
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rs2150306318
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NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
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NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile)
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NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu)
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rs1773956133
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NM_004453.4(ETFDH):c.488-9T>C
|
rs1554031705
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NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp)
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NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser)
|
rs1773969792
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NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg)
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NM_004453.4(ETFDH):c.549G>A (p.Met183Ile)
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NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys)
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NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)
|
rs369912835
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NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro)
|
rs1255103931
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NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr)
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NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln)
|
rs2150306642
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NM_004453.4(ETFDH):c.606+10GTTTT[2]
|
rs745580994
|
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NM_004453.4(ETFDH):c.608T>C (p.Val203Ala)
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|
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NM_004453.4(ETFDH):c.617A>C (p.His206Pro)
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NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe)
|
rs780991832
|
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NM_004453.4(ETFDH):c.638G>C (p.Gly213Ala)
|
|
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NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
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NM_004453.4(ETFDH):c.642T>G (p.Ile214Met)
|
rs201049444
|
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NM_004453.4(ETFDH):c.655G>A (p.Val219Ile)
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NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys)
|
rs1580406086
|
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NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)
|
rs1482632936
|
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NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly)
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NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg)
|
rs1032041993
|
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NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg)
|
rs1580411844
|
|
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val)
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|
|
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
|
rs1450977775
|
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NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu)
|
rs1580411897
|
|
NM_004453.4(ETFDH):c.807A>C (p.Gln269His)
|
rs1265381182
|
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NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr)
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NM_004453.4(ETFDH):c.831+6C>T
|
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NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg)
|
rs1774343332
|
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NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp)
|
|
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NM_004453.4(ETFDH):c.922T>G (p.Phe308Val)
|
rs1218671512
|
|
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val)
|
|
|
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys)
|
|
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NM_004453.4(ETFDH):c.948A>G (p.Glu316=)
|
rs1774347347
|
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NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile)
|
rs763002171
|
|
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro)
|
rs1464356117
|
|
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu)
|
rs1774348680
|
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NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly)
|
|
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NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu)
|
|
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