NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00202
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)
|
rs140853839
|
0.00046
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
|
rs780768015
|
0.00015
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000017.4(ACADS):c.989G>A (p.Arg330His)
|
rs199633532
|
0.00009
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
0.00007
|
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)
|
rs760892123
|
0.00006
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)
|
rs121908006
|
0.00006
|
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)
|
rs398124152
|
0.00006
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)
|
rs759158371
|
0.00004
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00004
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)
|
rs754202690
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
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.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)
|
rs780015493
|
0.00004
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
0.00003
|
NM_000016.6(ACADM):c.388-14A>G
|
rs372525651
|
0.00003
|
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)
|
rs750792245
|
0.00003
|
NM_000016.6(ACADM):c.426del (p.Lys143fs)
|
rs777998984
|
0.00003
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)
|
rs377656387
|
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_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)
|
rs398123074
|
0.00002
|
NM_000016.6(ACADM):c.234T>G (p.Ile78Met)
|
rs1158457053
|
0.00002
|
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly)
|
rs758476299
|
0.00002
|
NM_000016.6(ACADM):c.244dup (p.Trp82fs)
|
rs786204566
|
0.00002
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00002
|
NM_000016.6(ACADM):c.601del (p.Tyr201fs)
|
rs772650083
|
0.00002
|
NM_000016.6(ACADM):c.617G>A (p.Arg206His)
|
rs200724875
|
0.00002
|
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)
|
rs764268346
|
0.00002
|
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
|
rs758111285
|
0.00002
|
NM_000016.6(ACADM):c.709-13A>G
|
rs746483754
|
0.00002
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
0.00002
|
NM_000016.6(ACADM):c.984del (p.Met328fs)
|
rs747610156
|
0.00002
|
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)
|
rs199763682
|
0.00002
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)
|
rs767249944
|
0.00002
|
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter)
|
rs796051896
|
0.00001
|
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
|
rs1648832587
|
0.00001
|
NM_000016.6(ACADM):c.1046G>A (p.Arg349Gln)
|
rs760335676
|
0.00001
|
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)
|
rs766140986
|
0.00001
|
NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu)
|
rs150310121
|
0.00001
|
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)
|
rs748110745
|
0.00001
|
NM_000016.6(ACADM):c.1194+1G>A
|
rs769331400
|
0.00001
|
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
|
rs139686925
|
0.00001
|
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)
|
rs1337929727
|
0.00001
|
NM_000016.6(ACADM):c.216+2T>C
|
rs398123073
|
0.00001
|
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)
|
rs398123075
|
0.00001
|
NM_000016.6(ACADM):c.30+2T>C
|
rs768596219
|
0.00001
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)
|
rs875989876
|
0.00001
|
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)
|
rs745844469
|
0.00001
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
NM_000016.6(ACADM):c.599+2T>C
|
rs148260275
|
0.00001
|
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)
|
rs751829413
|
0.00001
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000016.6(ACADM):c.709-1G>A
|
rs941714381
|
0.00001
|
NM_000016.6(ACADM):c.727C>T (p.Arg243Ter)
|
rs1462279583
|
0.00001
|
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)
|
rs373852490
|
0.00001
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
NM_000016.6(ACADM):c.849+2T>C
|
rs780737237
|
0.00001
|
NM_000016.6(ACADM):c.850-2A>G
|
rs761317029
|
0.00001
|
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)
|
rs745793409
|
0.00001
|
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
NM_000016.6(ACADM):c.946-2A>C
|
rs758753966
|
0.00001
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)
|
rs147442301
|
0.00001
|
NM_000126.4(ETFA):c.625del (p.Arg209fs)
|
rs1209473816
|
0.00001
|
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)
|
rs148045813
|
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.1285+1G>A
|
rs767046886
|
0.00001
|
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg)
|
rs1156517377
|
0.00001
|
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg)
|
rs1174882036
|
0.00001
|
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp)
|
rs187248590
|
0.00001
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
NM_004453.4(ETFDH):c.1690+1G>T
|
rs917285990
|
0.00001
|
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)
|
rs1172887273
|
0.00001
|
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)
|
rs199899494
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)
|
rs1235904433
|
0.00001
|
NC_000001.10:g.(?_76190473)_(76200576_?)del
|
|
|
NC_000001.10:g.(?_76194064)_(76216241_?)del
|
|
|
NC_000001.10:g.(?_76198435)_(76205598_?)del
|
|
|
NC_000001.10:g.(?_76211473)_(76228458_?)del
|
|
|
NC_000001.10:g.(?_76228367)_(76228458_?)del
|
|
|
NC_000001.11:g.(?_75541435)_(76074884_?)del
|
|
|
NC_000001.11:g.(?_75724768)_(75724837_?)del
|
|
|
NC_000001.11:g.(?_75724778)_(75724827_?)del
|
|
|
NC_000001.11:g.(?_75724778)_(75750556_?)del
|
|
|
NC_000001.11:g.(?_75724778)_(75762773_?)del
|
|
|
NC_000001.11:g.(?_75761102)_(75762783_?)del
|
|
|
NC_000001.11:g.75745798_75745814TC[2]TTAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTCTTAGGTATTTTTT[1]
|
|
|
NC_000004.11:g.(?_159593534)_(159629689_?)del
|
|
|
NC_000004.11:g.(?_159606119)_(159616730_?)del
|
|
|
NC_000004.11:g.(?_159611480)_(159620302_?)del
|
|
|
NC_000004.11:g.(?_159616098)_(159618829_?)del
|
|
|
NC_000012.11:g.(?_121172765)_(121176235_?)del
|
|
|
NC_000012.11:g.(?_121174454)_(121176447_?)del
|
|
|
NC_000015.10:g.(?_76311340)_(76311398_?)del
|
|
|
NC_000015.9:g.(?_76508890)_(76603739_?)del
|
|
|
NC_000015.9:g.(?_76580177)_(76585051_?)del
|
|
|
NC_000019.9:g.(?_51727962)_(51890697_?)del
|
|
|
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)
|
rs875989865
|
|
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)
|
rs1323513432
|
|
NM_000016.6(ACADM):c.1010dup (p.Tyr337Ter)
|
rs2100452908
|
|
NM_000016.6(ACADM):c.1011C>A (p.Tyr337Ter)
|
rs2100452915
|
|
NM_000016.6(ACADM):c.1022_1029del (p.Ala341fs)
|
rs2100452990
|
|
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val)
|
rs771978135
|
|
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
|
|
|
NM_000016.6(ACADM):c.1042del (p.Arg348fs)
|
rs2100453109
|
|
NM_000016.6(ACADM):c.1045C>G (p.Arg349Gly)
|
rs148207467
|
|
NM_000016.6(ACADM):c.1049_1055dup (p.Tyr352Ter)
|
|
|
NM_000016.6(ACADM):c.104T>G (p.Leu35Ter)
|
rs1647090485
|
|
NM_000016.6(ACADM):c.1054_1057dup (p.Tyr353fs)
|
|
|
NM_000016.6(ACADM):c.1067T>C (p.Ile356Thr)
|
rs2100453278
|
|
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)
|
rs875989875
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)
|
rs1057516278
|
|
NM_000016.6(ACADM):c.1117G>A (p.Val373Met)
|
|
|
NM_000016.6(ACADM):c.1120C>T (p.Gln374Ter)
|
rs2100453612
|
|
NM_000016.6(ACADM):c.1167del (p.Lys389fs)
|
|
|
NM_000016.6(ACADM):c.1175G>A (p.Arg392Lys)
|
rs2100453846
|
|
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)
|
rs776312173
|
|
NM_000016.6(ACADM):c.1186dup (p.Ile396fs)
|
|
|
NM_000016.6(ACADM):c.1189_1192del (p.Tyr397fs)
|
|
|
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs)
|
rs875989877
|
|
NM_000016.6(ACADM):c.1190A>C (p.Tyr397Ser)
|
rs1553127216
|
|
NM_000016.6(ACADM):c.1203_1224del (p.Glu401fs)
|
|
|
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)
|
rs1462472677
|
|
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)
|
rs875989860
|
|
NM_000016.6(ACADM):c.1226_1227del (p.Leu409fs)
|
|
|
NM_000016.6(ACADM):c.1228_1230del (p.Ile410del)
|
|
|
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)
|
rs1361089796
|
|
NM_000016.6(ACADM):c.130C>T (p.Gln44Ter)
|
|
|
NM_000016.6(ACADM):c.136_158dup (p.Phe55fs)
|
|
|
NM_000016.6(ACADM):c.165del (p.Phe55fs)
|
rs1319192670
|
|
NM_000016.6(ACADM):c.168del (p.Arg57fs)
|
rs2100362712
|
|
NM_000016.6(ACADM):c.1A>G (p.Met1Val)
|
rs1057516778
|
|
NM_000016.6(ACADM):c.1A>T (p.Met1Leu)
|
rs1057516778
|
|
NM_000016.6(ACADM):c.203del (p.Asp68fs)
|
rs2100362899
|
|
NM_000016.6(ACADM):c.216+1G>A
|
|
|
NM_000016.6(ACADM):c.216+2T>G
|
rs398123073
|
|
NM_000016.6(ACADM):c.217-1G>A
|
rs1570861829
|
|
NM_000016.6(ACADM):c.217-2A>G
|
rs1647169738
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
NM_000016.6(ACADM):c.243_250del (p.Glu83fs)
|
rs2100363563
|
|
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)
|
rs2100332723
|
|
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg)
|
rs398123075
|
|
NM_000016.6(ACADM):c.260T>C (p.Met87Thr)
|
rs767649048
|
|
NM_000016.6(ACADM):c.273dup (p.Pro92fs)
|
|
|
NM_000016.6(ACADM):c.2T>G (p.Met1Arg)
|
|
|
NM_000016.6(ACADM):c.30+1G>C
|
|
|
NM_000016.6(ACADM):c.30+2T>G
|
rs768596219
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
NM_000016.6(ACADM):c.309del (p.Phe103fs)
|
|
|
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)
|
rs875989873
|
|
NM_000016.6(ACADM):c.331G>A (p.Glu111Lys)
|
|
|
NM_000016.6(ACADM):c.331G>T (p.Glu111Ter)
|
|
|
NM_000016.6(ACADM):c.333_345del (p.Glu111fs)
|
rs1647188308
|
|
NM_000016.6(ACADM):c.338C>A (p.Ala113Asp)
|
rs2100365905
|
|
NM_000016.6(ACADM):c.342T>A (p.Tyr114Ter)
|
rs2100365911
|
|
NM_000016.6(ACADM):c.342_343dup (p.Gly115fs)
|
rs1647188440
|
|
NM_000016.6(ACADM):c.355dup (p.Val119fs)
|
rs1553123071
|
|
NM_000016.6(ACADM):c.377del (p.Asn126fs)
|
rs2100366089
|
|
NM_000016.6(ACADM):c.383dup (p.Leu128fs)
|
rs1647189225
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)
|
rs1570866192
|
|
NM_000016.6(ACADM):c.3G>C (p.Met1Ile)
|
rs1553121887
|
|
NM_000016.6(ACADM):c.423_425del (p.Lys144del)
|
rs886042087
|
|
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)
|
rs875989857
|
|
NM_000016.6(ACADM):c.425del (p.Lys142fs)
|
rs886042087
|
|
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)
|
|
|
NM_000016.6(ACADM):c.431_434del (p.Lys144fs)
|
rs1057517356
|
|
NM_000016.6(ACADM):c.437del (p.Leu146fs)
|
rs749529577
|
|
NM_000016.6(ACADM):c.443G>T (p.Arg148Ile)
|
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)
|
rs1553123263
|
|
NM_000016.6(ACADM):c.468+2T>C
|
rs1647214301
|
|
NM_000016.6(ACADM):c.468+2T>G
|
rs1647214301
|
|
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)
|
rs1570876467
|
|
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)
|
rs1553123858
|
|
NM_000016.6(ACADM):c.475del (p.Cys159fs)
|
|
|
NM_000016.6(ACADM):c.47del (p.Ser16fs)
|
rs1325949559
|
|
NM_000016.6(ACADM):c.518del (p.Lys173fs)
|
rs2100389603
|
|
NM_000016.6(ACADM):c.520dup (p.Thr174fs)
|
|
|
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)
|
rs200754053
|
|
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)
|
rs200754053
|
|
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)
|
rs1553123869
|
|
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)
|
rs1553123872
|
|
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)
|
rs1647480996
|
|
NM_000016.6(ACADM):c.573G>A (p.Trp191Ter)
|
|
|
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
|
|
|
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
|
|
|
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter)
|
rs1486350523
|
|
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro)
|
rs1324329442
|
|
NM_000016.6(ACADM):c.614C>T (p.Ala205Val)
|
rs1647865251
|
|
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)
|
rs200724875
|
|
NM_000016.6(ACADM):c.652del (p.Ala218fs)
|
rs2100408169
|
|
NM_000016.6(ACADM):c.65C>A (p.Ser22Ter)
|
|
|
NM_000016.6(ACADM):c.65C>G (p.Ser22Ter)
|
|
|
NM_000016.6(ACADM):c.673G>A (p.Glu225Lys)
|
rs886042056
|
|
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)
|
rs1570851702
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000016.6(ACADM):c.686del (p.Pro229fs)
|
rs1647873033
|
|
NM_000016.6(ACADM):c.703A>T (p.Arg235Ter)
|
|
|
NM_000016.6(ACADM):c.706A>T (p.Lys236Ter)
|
|
|
NM_000016.6(ACADM):c.709-2A>C
|
rs1553125211
|
|
NM_000016.6(ACADM):c.741_742dup (p.Arg248fs)
|
rs2100417454
|
|
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly)
|
rs875989867
|
|
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)
|
rs780510026
|
|
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)
|
rs2100417619
|
|
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer)
|
rs1557457623
|
|
NM_000016.6(ACADM):c.799G>T (p.Gly267Ter)
|
|
|
NM_000016.6(ACADM):c.799_803del (p.Gly267fs)
|
rs2100417735
|
|
NM_000016.6(ACADM):c.801del (p.Ala268fs)
|
rs2100417752
|
|
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)
|
rs875989872
|
|
NM_000016.6(ACADM):c.823_824dup (p.Ala276fs)
|
|
|
NM_000016.6(ACADM):c.835A>T (p.Lys279Ter)
|
|
|
NM_000016.6(ACADM):c.842G>C (p.Arg281Thr)
|
rs121434282
|
|
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)
|
rs780504551
|
|
NM_000016.6(ACADM):c.862del (p.Ala288fs)
|
|
|
NM_000016.6(ACADM):c.866T>C (p.Val289Ala)
|
rs1057520215
|
|
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu)
|
rs769906625
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000016.6(ACADM):c.882_883del (p.Arg294fs)
|
rs796051901
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
|
|
NM_000016.6(ACADM):c.926dup (p.Gly310fs)
|
rs875989864
|
|
NM_000016.6(ACADM):c.927del (p.Phe309fs)
|
rs1557458562
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
NM_000016.6(ACADM):c.949C>G (p.Gln317Glu)
|
rs1057516564
|
|
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)
|
rs1057517103
|
|
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)
|
rs1057516485
|
|
NM_000016.6(ACADM):c.973dup (p.Glu325fs)
|
rs1648824675
|
|
NM_000016.6(ACADM):c.977T>C (p.Met326Thr)
|
rs786204631
|
|
NM_000016.6(ACADM):c.982A>G (p.Met328Val)
|
rs1648825926
|
|
NM_000016.6(ACADM):c.989_1010del (p.Val330fs)
|
rs1553127172
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter)
|
rs541587321
|
|
NM_000017.4(ACADS):c.1086+2T>G
|
|
|
NM_000017.4(ACADS):c.125_135del (p.Leu42fs)
|
rs1057516733
|
|
NM_000017.4(ACADS):c.221_222insCCAT (p.Met74fs)
|
rs1317080057
|
|
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
|
|
|
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del)
|
rs387906308
|
|
NM_000017.4(ACADS):c.362_363CT[2] (p.Tyr123fs)
|
rs1433582057
|
|
NM_000017.4(ACADS):c.3G>A (p.Met1Ile)
|
|
|
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter)
|
rs752677472
|
|
NM_000017.4(ACADS):c.492_513del (p.Ala165fs)
|
rs745833347
|
|
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)
|
rs777002501
|
|
NM_000017.4(ACADS):c.514dup (p.Ala172fs)
|
rs1482609511
|
|
NM_000017.4(ACADS):c.682_683del (p.Glu228fs)
|
rs786204691
|
|
NM_000017.4(ACADS):c.812del (p.Gly271fs)
|
rs2136950036
|
|
NM_000017.4(ACADS):c.88C>T (p.Gln30Ter)
|
|
|
NM_000017.4(ACADS):c.910dup (p.Leu304fs)
|
rs1057516606
|
|
NM_000017.4(ACADS):c.931C>T (p.Gln311Ter)
|
|
|
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His)
|
rs1555244280
|
|
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)
|
rs1384386872
|
|
NM_000126.4(ETFA):c.177del (p.Lys59fs)
|
|
|
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
|
|
|
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
|
|
|
NM_000126.4(ETFA):c.285del (p.Ile96fs)
|
rs2039775781
|
|
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
|
|
|
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.369dup (p.Ala124fs)
|
|
|
NM_000126.4(ETFA):c.37dup (p.Ala13fs)
|
|
|
NM_000126.4(ETFA):c.427dup (p.Thr143fs)
|
rs2039717357
|
|
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)
|
rs1047426224
|
|
NM_000126.4(ETFA):c.461dup (p.Cys155fs)
|
|
|
NM_000126.4(ETFA):c.478del (p.Asp160fs)
|
rs2039705645
|
|
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
|
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)
|
|
|
NM_000126.4(ETFA):c.560del (p.Lys187fs)
|
|
|
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)
|
|
|
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)
|
|
|
NM_000126.4(ETFA):c.624del (p.Arg209fs)
|
rs1596218695
|
|
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)
|
rs754050501
|
|
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)
|
rs757409121
|
|
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
|
|
|
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
|
|
|
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)
|
rs187424345
|
|
NM_001985.3(ETFB):c.362del (p.Leu121fs)
|
|
|
NM_001985.3(ETFB):c.386dup (p.Asp129fs)
|
|
|
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
|
|
|
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer)
|
rs2123580195
|
|
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)
|
|
|
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
|
|
|
NM_001985.3(ETFB):c.61del (p.Arg21fs)
|
|
|
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)
|
rs757063739
|
|
NM_004453.4(ETFDH):c.1062del (p.Gly355fs)
|
rs2150312280
|
|
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
|
|
|
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.1141G>C (p.Gly381Arg)
|
rs1466787789
|
|
NM_004453.4(ETFDH):c.1169del (p.Gly390fs)
|
rs1774519872
|
|
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)
|
rs1200031596
|
|
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs)
|
rs1480647123
|
|
NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter)
|
|
|
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)
|
|
|
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs)
|
|
|
NM_004453.4(ETFDH):c.1285+2T>G
|
rs2126309523
|
|
NM_004453.4(ETFDH):c.1303dup (p.Tyr435fs)
|
|
|
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter)
|
rs2126314844
|
|
NM_004453.4(ETFDH):c.1349_1350del (p.Ser450fs)
|
|
|
NM_004453.4(ETFDH):c.1355_1358del (p.Arg452fs)
|
|
|
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.1395T>G (p.Tyr465Ter)
|
rs745714733
|
|
NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter)
|
|
|
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter)
|
rs2126315337
|
|
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
|
|
|
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)
|
rs1774616485
|
|
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs)
|
rs2126315444
|
|
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro)
|
rs863224869
|
|
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.1555_1556del (p.Leu519fs)
|
rs1774630121
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter)
|
rs878853006
|
|
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs)
|
rs1774633192
|
|
NM_004453.4(ETFDH):c.1623del (p.Asp541fs)
|
rs2126316669
|
|
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs)
|
|
|
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)
|
rs771393519
|
|
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs)
|
rs2150304416
|
|
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)
|
rs1469053638
|
|
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs)
|
rs2126316783
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter)
|
|
|
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser)
|
rs2126316885
|
|
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
|
|
|
NM_004453.4(ETFDH):c.1690+2T>G
|
|
|
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter)
|
rs1774695889
|
|
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)
|
|
|
NM_004453.4(ETFDH):c.1745del (p.Asn582fs)
|
rs1774698674
|
|
NM_004453.4(ETFDH):c.175+1del
|
rs2150304426
|
|
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg)
|
rs781498366
|
|
NM_004453.4(ETFDH):c.1779del (p.Asp593fs)
|
|
|
NM_004453.4(ETFDH):c.1785del (p.Asp596fs)
|
rs2126321079
|
|
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter)
|
rs1580425904
|
|
NM_004453.4(ETFDH):c.1825GGA[2] (p.Gly611del)
|
|
|
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg)
|
rs2126321296
|
|
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs)
|
|
|
NM_004453.4(ETFDH):c.1850_1854del (p.Met617fs)
|
|
|
NM_004453.4(ETFDH):c.207del (p.Asp70fs)
|
rs1773877563
|
|
NM_004453.4(ETFDH):c.240_241del (p.Ser82fs)
|
|
|
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)
|
rs1580396712
|
|
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.269T>A (p.Leu90Ter)
|
rs749085653
|
|
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)
|
rs121964953
|
|
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs)
|
rs796051962
|
|
NM_004453.4(ETFDH):c.34+5G>C
|
rs1373597092
|
|
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)
|
rs2150305273
|
|
NM_004453.4(ETFDH):c.350_351dup (p.Cys118fs)
|
|
|
NM_004453.4(ETFDH):c.360dup (p.Pro121fs)
|
|
|
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.386del (p.Pro129fs)
|
rs2150305297
|
|
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)
|
|
|
NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)
|
|
|
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)
|
|
|
NM_004453.4(ETFDH):c.40del (p.Gln14fs)
|
|
|
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.443_446dup (p.Ile149fs)
|
rs1773954366
|
|
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)
|
rs878853082
|
|
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter)
|
rs549150456
|
|
NM_004453.4(ETFDH):c.468dup (p.Pro157fs)
|
|
|
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.56del (p.Ala18_Leu19insTer)
|
rs2150304339
|
|
NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter)
|
|
|
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)
|
rs2150306625
|
|
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
|
|
|
NM_004453.4(ETFDH):c.71dup (p.Asn24fs)
|
rs2150304342
|
|
NM_004453.4(ETFDH):c.838del (p.Val280fs)
|
|
|
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly)
|
rs755907131
|
|
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser)
|
rs1774344831
|
|
NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter)
|
|
|
NM_004453.4(ETFDH):c.972+1del
|
|
|
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.999C>A (p.Tyr333Ter)
|
rs2150312228
|
|