ClinVar Miner

List of variants reported as pathogenic for acyl-CoA dehydrogenase deficiency by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 423
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

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