ClinVar Miner

List of variants studied for Deficiency of butyryl-CoA dehydrogenase

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 391
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000017.4(ACADS):c.625-99T>C rs555404 0.51701
NM_000017.4(ACADS):c.*527A>G rs9204 0.29435
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000017.4(ACADS):c.*249G>A rs628909 0.04756
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000017.4(ACADS):c.*310C>G rs116733542 0.02741
NM_000017.4(ACADS):c.*5G>A rs2229533 0.02244
NM_000017.4(ACADS):c.*387A>G rs11065238 0.01712
NM_000017.4(ACADS):c.*500G>A rs639667 0.01483
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_000017.4(ACADS):c.*115G>A rs2229534 0.01325
NM_000017.4(ACADS):c.625-83G>A rs150191962 0.01034
NM_000017.4(ACADS):c.*200C>T rs137990231 0.00378
NM_000017.4(ACADS):c.796-14G>C rs201420791 0.00256
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_000017.4(ACADS):c.1087-17C>A rs201218974 0.00219
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000017.4(ACADS):c.522C>T (p.Gly174=) rs143925225 0.00169
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000017.4(ACADS):c.1053C>T (p.Ala351=) rs145594828 0.00051
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000017.4(ACADS):c.*27C>T rs188190117 0.00043
NM_000017.4(ACADS):c.360+15A>G rs770784767 0.00043
NM_000017.4(ACADS):c.-56C>G rs567626964 0.00041
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_000017.4(ACADS):c.1029+20A>C rs370161104 0.00038
NM_000017.4(ACADS):c.47C>T (p.Ala16Val) rs147494970 0.00033
NM_000017.4(ACADS):c.795+9G>A rs370703070 0.00031
NM_000017.4(ACADS):c.*266G>T rs537512881 0.00029
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000017.4(ACADS):c.795+6C>T rs376682235 0.00020
NM_000017.4(ACADS):c.211-18G>A rs201747310 0.00019
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000017.4(ACADS):c.656C>T (p.Thr219Met) rs148588313 0.00016
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158 0.00014
NM_000017.4(ACADS):c.46+20G>C rs561966080 0.00012
NM_000017.4(ACADS):c.255C>T (p.Pro85=) rs113118479 0.00011
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000017.4(ACADS):c.819C>T (p.Ile273=) rs368859841 0.00009
NM_000017.4(ACADS):c.989G>A (p.Arg330His) rs199633532 0.00009
NM_001002030.2(ECHDC1):c.389T>C (p.Met130Thr) rs368710940 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000017.4(ACADS):c.1149C>T (p.Arg383=) rs371323002 0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000017.4(ACADS):c.204G>A (p.Ala68=) rs374124706 0.00007
NM_000017.4(ACADS):c.327C>T (p.Cys109=) rs144083614 0.00007
NM_000017.4(ACADS):c.1050G>T (p.Leu350=) rs768748973 0.00006
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.225C>T (p.Gly75=) rs370478896 0.00006
NM_000017.4(ACADS):c.250G>A (p.Val84Met) rs751283667 0.00006
NM_000017.4(ACADS):c.40C>G (p.Arg14Gly) rs542140065 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.624+11C>T rs763811046 0.00006
NM_000017.4(ACADS):c.668C>T (p.Thr223Met) rs143131689 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_000017.4(ACADS):c.1157G>A (p.Arg386His) rs766183395 0.00005
NM_000017.4(ACADS):c.1196G>A (p.Arg399Gln) rs926187308 0.00005
NM_000017.4(ACADS):c.58A>G (p.Arg20Gly) rs745510897 0.00005
NM_000017.4(ACADS):c.*10G>A rs761682729 0.00004
NM_000017.4(ACADS):c.*37C>T rs377080695 0.00004
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866 0.00004
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000017.4(ACADS):c.147C>G (p.Ala49=) rs202193021 0.00004
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys) rs121908004 0.00004
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00004
NM_000017.4(ACADS):c.663G>T (p.Gly221=) rs751023929 0.00004
NM_000017.4(ACADS):c.775A>G (p.Met259Val) rs752079325 0.00004
NM_000017.4(ACADS):c.888T>C (p.Asn296=) rs111686208 0.00004
NM_000017.4(ACADS):c.905C>T (p.Ala302Val) rs770009021 0.00004
NM_000017.4(ACADS):c.934-18G>C rs371199821 0.00004
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro) rs796051904 0.00003
NM_000017.4(ACADS):c.1086+5G>A rs776623770 0.00003
NM_000017.4(ACADS):c.1139G>A (p.Arg380Gln) rs368064268 0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.414G>A (p.Ala138=) rs201825471 0.00003
NM_000017.4(ACADS):c.508G>T (p.Ala170Ser) rs765604622 0.00003
NM_000017.4(ACADS):c.700C>T (p.Arg234Trp) rs532174593 0.00003
NM_000017.4(ACADS):c.730G>A (p.Glu244Lys) rs551883820 0.00003
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000017.4(ACADS):c.900C>T (p.Phe300=) rs150980955 0.00003
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr) rs1267288663 0.00003
NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser) rs145466253 0.00002
NM_000017.4(ACADS):c.1231C>T (p.Arg411Trp) rs369416846 0.00002
NM_000017.4(ACADS):c.161T>C (p.Phe54Ser) rs749775207 0.00002
NM_000017.4(ACADS):c.226G>A (p.Gly76Arg) rs774801839 0.00002
NM_000017.4(ACADS):c.360+1G>A rs1018117461 0.00002
NM_000017.4(ACADS):c.46+15G>A rs777164036 0.00002
NM_000017.4(ACADS):c.497C>T (p.Ala166Val) rs1022406482 0.00002
NM_000017.4(ACADS):c.579G>A (p.Ser193=) rs777162096 0.00002
NM_000017.4(ACADS):c.778G>T (p.Gly260Cys) rs759856061 0.00002
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr) rs199717731 0.00002
NM_000017.4(ACADS):c.933+14C>G rs753402878 0.00002
NM_000017.4(ACADS):c.934-5T>A rs749885391 0.00002
NM_000017.4(ACADS):c.*178C>T rs1309551400 0.00001
NM_000017.4(ACADS):c.1011C>G (p.Asn337Lys) rs200346345 0.00001
NM_000017.4(ACADS):c.1030-1G>A rs1226857910 0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000017.4(ACADS):c.1071C>T (p.Thr357=) rs759011410 0.00001
NM_000017.4(ACADS):c.1078A>G (p.Ser360Gly) rs528266975 0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135 0.00001
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) rs796051905 0.00001
NM_000017.4(ACADS):c.1117G>A (p.Val373Met) rs371934737 0.00001
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718 0.00001
NM_000017.4(ACADS):c.1135G>C (p.Glu379Gln) rs953436518 0.00001
NM_000017.4(ACADS):c.1148G>A (p.Arg383His) rs35233375 0.00001
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs) rs1057516421 0.00001
NM_000017.4(ACADS):c.1169T>A (p.Ile390Asn) rs773646063 0.00001
NM_000017.4(ACADS):c.1173C>T (p.Tyr391=) rs766657084 0.00001
NM_000017.4(ACADS):c.1207G>A (p.Ala403Thr) rs556890619 0.00001
NM_000017.4(ACADS):c.1209C>T (p.Ala403=) rs377069922 0.00001
NM_000017.4(ACADS):c.137G>A (p.Arg46Gln) rs758012734 0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969 0.00001
NM_000017.4(ACADS):c.242C>T (p.Ala81Val) rs1883464095 0.00001
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser) rs121908005 0.00001
NM_000017.4(ACADS):c.29_35dup (p.Ala13fs) rs765758808 0.00001
NM_000017.4(ACADS):c.304A>G (p.Met102Val) rs766216232 0.00001
NM_000017.4(ACADS):c.322G>A (p.Gly108Ser) rs117356004 0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.332C>T (p.Ser111Phe) rs747339462 0.00001
NM_000017.4(ACADS):c.336C>T (p.Thr112=) rs768784437 0.00001
NM_000017.4(ACADS):c.337G>A (p.Gly113Arg) rs781528570 0.00001
NM_000017.4(ACADS):c.422C>T (p.Thr141Met) rs767874760 0.00001
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg) rs148297461 0.00001
NM_000017.4(ACADS):c.449G>T (p.Gly150Val) rs1057524803 0.00001
NM_000017.4(ACADS):c.46+8C>A rs758929346 0.00001
NM_000017.4(ACADS):c.460C>T (p.Leu154Phe) rs368500899 0.00001
NM_000017.4(ACADS):c.466G>A (p.Glu156Lys) rs1883492972 0.00001
NM_000017.4(ACADS):c.473-9T>G rs751507296 0.00001
NM_000017.4(ACADS):c.477C>T (p.Asn159=) rs747915680 0.00001
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly) rs755856935 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880 0.00001
NM_000017.4(ACADS):c.602C>T (p.Thr201Met) rs151059234 0.00001
NM_000017.4(ACADS):c.625-1G>A rs1452314438 0.00001
NM_000017.4(ACADS):c.625-7C>T rs748174528 0.00001
NM_000017.4(ACADS):c.65G>T (p.Trp22Leu) rs774970155 0.00001
NM_000017.4(ACADS):c.673G>C (p.Gly225Arg) rs1181743442 0.00001
NM_000017.4(ACADS):c.682G>A (p.Glu228Lys) rs755247580 0.00001
NM_000017.4(ACADS):c.68G>A (p.Arg23Gln) rs773600043 0.00001
NM_000017.4(ACADS):c.703G>C (p.Gly235Arg) rs770711544 0.00001
NM_000017.4(ACADS):c.739C>T (p.Arg247Cys) rs760389122 0.00001
NM_000017.4(ACADS):c.801C>A (p.Thr267=) rs746750876 0.00001
NM_000017.4(ACADS):c.812G>T (p.Gly271Val) rs796051902 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 0.00001
NM_000017.4(ACADS):c.821G>A (p.Gly274Asp) rs772531600 0.00001
NM_000017.4(ACADS):c.842G>C (p.Gly281Ala) rs762083095 0.00001
NM_000017.4(ACADS):c.889C>T (p.Arg297Cys) rs747512252 0.00001
NM_000017.4(ACADS):c.906G>A (p.Ala302=) rs763162492 0.00001
NM_000017.4(ACADS):c.934-11G>A rs753547944 0.00001
NM_000017.4(ACADS):c.937A>G (p.Lys313Glu) rs1233243754 0.00001
NM_000017.4(ACADS):c.958G>T (p.Ala320Ser) rs777939247 0.00001
NM_000017.4(ACADS):c.981G>C (p.Leu327=) rs1214493869 0.00001
NM_000017.4(ACADS):c.981_983del (p.Thr328del) rs1347248007 0.00001
NC_000012.11:g.(?_121163689)_(121177251_?)dup
NC_000012.11:g.(?_121172765)_(121176235_?)del
NC_000012.11:g.(?_121174454)_(121176447_?)del
NC_000012.11:g.(?_121174769)_(121177271_?)del
NC_000012.12:g.(?_120725866)_(120727209_?)del
NM_000017.2(ACADS):c.*573G>C rs17848081
NM_000017.4(ACADS):c.*162C>T rs1273364186
NM_000017.4(ACADS):c.*174G>C rs886049032
NM_000017.4(ACADS):c.*235C>T rs1883596141
NM_000017.4(ACADS):c.*305C>A rs550652942
NM_000017.4(ACADS):c.*86C>T rs374762327
NM_000017.4(ACADS):c.*91G>T rs886049031
NM_000017.4(ACADS):c.-56C>T rs567626964
NM_000017.4(ACADS):c.1025T>C (p.Ile342Thr)
NM_000017.4(ACADS):c.1028A>G (p.Lys343Arg) rs1883556301
NM_000017.4(ACADS):c.1029+18C>T
NM_000017.4(ACADS):c.1029+1G>A rs1057516639
NM_000017.4(ACADS):c.1030-13C>T
NM_000017.4(ACADS):c.1030-20G>A
NM_000017.4(ACADS):c.1030-3_1044dup rs1883566976
NM_000017.4(ACADS):c.1030-6G>A rs1249811685
NM_000017.4(ACADS):c.1031del (p.Glu344fs) rs1057517155
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.1064C>T (p.Ala355Val) rs770439736
NM_000017.4(ACADS):c.1066G>A (p.Ala356Thr) rs768733898
NM_000017.4(ACADS):c.1067C>T (p.Ala356Val) rs1378527596
NM_000017.4(ACADS):c.1072G>T (p.Ala358Ser)
NM_000017.4(ACADS):c.1077C>G (p.Ile359Met)
NM_000017.4(ACADS):c.1084C>G (p.Gln362Glu) rs541587321
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter) rs541587321
NM_000017.4(ACADS):c.1086+19C>A
NM_000017.4(ACADS):c.1086+1G>A rs1555244367
NM_000017.4(ACADS):c.1086+1G>T rs1555244367
NM_000017.4(ACADS):c.1086+1del rs1555244366
NM_000017.4(ACADS):c.1086+2T>G
NM_000017.4(ACADS):c.1102G>A (p.Gly368Ser) rs1433674196
NM_000017.4(ACADS):c.1112G>C (p.Gly371Ala)
NM_000017.4(ACADS):c.1116C>T (p.Tyr372=)
NM_000017.4(ACADS):c.1131G>A (p.Pro377=)
NM_000017.4(ACADS):c.1141C>A (p.His381Asn) rs1219162519
NM_000017.4(ACADS):c.1146C>A (p.Tyr382Ter) rs1555244413
NM_000017.4(ACADS):c.1148G>T (p.Arg383Leu) rs35233375
NM_000017.4(ACADS):c.1152C>T (p.Asp384=)
NM_000017.4(ACADS):c.1153G>A (p.Ala385Thr) rs202124189
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.1167G>A (p.Glu389=) rs1195281334
NM_000017.4(ACADS):c.1170C>T (p.Ile390=)
NM_000017.4(ACADS):c.1179C>T (p.Gly393=)
NM_000017.4(ACADS):c.1182del (p.Ser395fs) rs1555244432
NM_000017.4(ACADS):c.1186G>A (p.Glu396Lys)
NM_000017.4(ACADS):c.1195C>T (p.Arg399Trp) rs375931905
NM_000017.4(ACADS):c.1198C>G (p.Leu400Val) rs369840561
NM_000017.4(ACADS):c.1213del (p.His405fs) rs1555244455
NM_000017.4(ACADS):c.1226G>C (p.Ser409Thr)
NM_000017.4(ACADS):c.125_126del (p.Leu42fs)
NM_000017.4(ACADS):c.125_135del (p.Leu42fs) rs1057516733
NM_000017.4(ACADS):c.126C>G (p.Leu42=)
NM_000017.4(ACADS):c.151_153del (p.Lys51del)
NM_000017.4(ACADS):c.152A>G (p.Lys51Arg)
NM_000017.4(ACADS):c.157T>G (p.Leu53Val) rs1883110478
NM_000017.4(ACADS):c.170C>T (p.Ala57Val)
NM_000017.4(ACADS):c.189A>T (p.Glu63Asp)
NM_000017.4(ACADS):c.193C>A (p.Leu65Ile) rs377388400
NM_000017.4(ACADS):c.203C>T (p.Ala68Val) rs148789330
NM_000017.4(ACADS):c.210+13C>T rs1883114264
NM_000017.4(ACADS):c.211-1G>A rs1057516566
NM_000017.4(ACADS):c.211-2A>G
NM_000017.4(ACADS):c.215A>G (p.Lys72Arg)
NM_000017.4(ACADS):c.215AGA[1] (p.Lys73del) rs1883462118
NM_000017.4(ACADS):c.221_222insCCAT (p.Met74fs) rs1317080057
NM_000017.4(ACADS):c.222G>A (p.Met74Ile)
NM_000017.4(ACADS):c.224del (p.Gly75fs)
NM_000017.4(ACADS):c.226G>T (p.Gly76Trp)
NM_000017.4(ACADS):c.243C>T (p.Ala81=)
NM_000017.4(ACADS):c.244A>C (p.Met82Leu)
NM_000017.4(ACADS):c.249C>T (p.Asp83=)
NM_000017.4(ACADS):c.259G>A (p.Glu87Lys)
NM_000017.4(ACADS):c.263T>G (p.Leu88Arg)
NM_000017.4(ACADS):c.267C>T (p.Gly89=)
NM_000017.4(ACADS):c.277C>A (p.Leu93Ile) rs1358146160
NM_000017.4(ACADS):c.280G>A (p.Asp94Asn) rs772604031
NM_000017.4(ACADS):c.285C>T (p.Tyr95=)
NM_000017.4(ACADS):c.286C>T (p.Leu96=)
NM_000017.4(ACADS):c.294C>T (p.Tyr98=)
NM_000017.4(ACADS):c.295G>A (p.Ala99Thr)
NM_000017.4(ACADS):c.298A>G (p.Ile100Val)
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
NM_000017.4(ACADS):c.301G>A (p.Ala101Thr)
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000017.4(ACADS):c.314T>A (p.Ile105Asn) rs1035363801
NM_000017.4(ACADS):c.315del (p.Ser106fs) rs1057516385
NM_000017.4(ACADS):c.320_321inv (p.Arg107His)
NM_000017.4(ACADS):c.321_322inv (p.Gly108Ser)
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) rs387906951
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.32del (p.Gly11fs) rs1057516967
NM_000017.4(ACADS):c.347T>C (p.Met116Thr)
NM_000017.4(ACADS):c.352G>A (p.Val118Ile)
NM_000017.4(ACADS):c.359A>G (p.Asn120Ser)
NM_000017.4(ACADS):c.360+16G>A rs2136948385
NM_000017.4(ACADS):c.360+19C>G
NM_000017.4(ACADS):c.360+49C>T
NM_000017.4(ACADS):c.360+6C>G
NM_000017.4(ACADS):c.360+8C>G
NM_000017.4(ACADS):c.361-10G>C
NM_000017.4(ACADS):c.361-13G>A
NM_000017.4(ACADS):c.361-14C>A
NM_000017.4(ACADS):c.361-20G>A
NM_000017.4(ACADS):c.362_363CT[2] (p.Tyr123fs) rs1433582057
NM_000017.4(ACADS):c.364C>T (p.Leu122Phe) rs1555243946
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.4(ACADS):c.380T>C (p.Ile127Thr) rs1555243949
NM_000017.4(ACADS):c.38C>T (p.Ala13Val)
NM_000017.4(ACADS):c.391G>C (p.Gly131Arg) rs1883486863
NM_000017.4(ACADS):c.399G>A (p.Lys133=)
NM_000017.4(ACADS):c.3G>A (p.Met1Ile)
NM_000017.4(ACADS):c.402G>A (p.Glu134=)
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter) rs752677472
NM_000017.4(ACADS):c.413C>T (p.Ala138Val)
NM_000017.4(ACADS):c.417G>A (p.Trp139Ter) rs149107232
NM_000017.4(ACADS):c.423_424del (p.Pro142fs)
NM_000017.4(ACADS):c.431C>T (p.Thr144Ile) rs764413160
NM_000017.4(ACADS):c.432C>T (p.Thr144=)
NM_000017.4(ACADS):c.43A>G (p.Arg15Gly) rs1338857285
NM_000017.4(ACADS):c.46+16A>C
NM_000017.4(ACADS):c.46+9G>T
NM_000017.4(ACADS):c.460_461insAAC (p.Ala153_Leu154insGln) rs1555243966
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg) rs1057523592
NM_000017.4(ACADS):c.463_465dup (p.Ser155dup) rs1555243967
NM_000017.4(ACADS):c.47-14G>C rs2136939265
NM_000017.4(ACADS):c.47-17T>C
NM_000017.4(ACADS):c.47-2A>C rs770646738
NM_000017.4(ACADS):c.47-6C>A rs749023748
NM_000017.4(ACADS):c.472+1G>T
NM_000017.4(ACADS):c.472+9C>G
NM_000017.4(ACADS):c.473-2A>G rs1057516231
NM_000017.4(ACADS):c.473-5G>A rs2136949081
NM_000017.4(ACADS):c.473-7T>C
NM_000017.4(ACADS):c.477C>A (p.Asn159Lys)
NM_000017.4(ACADS):c.478G>A (p.Gly160Ser)
NM_000017.4(ACADS):c.489A>C (p.Ala163=)
NM_000017.4(ACADS):c.492_513del (p.Ala165fs) rs745833347
NM_000017.4(ACADS):c.494C>T (p.Ala165Val)
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000017.4(ACADS):c.508G>A (p.Ala170Thr) rs765604622
NM_000017.4(ACADS):c.514dup (p.Ala172fs) rs1482609511
NM_000017.4(ACADS):c.516C>T (p.Ala172=) rs531683812
NM_000017.4(ACADS):c.518_519insCTGCT (p.Glu173fs)
NM_000017.4(ACADS):c.527C>A (p.Ser176Ter) rs1057516848
NM_000017.4(ACADS):c.528A>C (p.Ser176=)
NM_000017.4(ACADS):c.542G>A (p.Gly181Glu) rs2136949225
NM_000017.4(ACADS):c.54dup (p.Pro19fs)
NM_000017.4(ACADS):c.552C>T (p.Ala184=) rs886049030
NM_000017.4(ACADS):c.557T>A (p.Ile186Asn)
NM_000017.4(ACADS):c.576T>C (p.Ala192=)
NM_000017.4(ACADS):c.593_594del (p.Phe198fs) rs1057516685
NM_000017.4(ACADS):c.603G>A (p.Thr201=)
NM_000017.4(ACADS):c.603G>T (p.Thr201=)
NM_000017.4(ACADS):c.607A>T (p.Arg203Ter)
NM_000017.4(ACADS):c.610G>C (p.Ala204Pro)
NM_000017.4(ACADS):c.612C>A (p.Ala204=)
NM_000017.4(ACADS):c.620A>G (p.Asn207Ser)
NM_000017.4(ACADS):c.624+19G>A
NM_000017.4(ACADS):c.624+19G>C
NM_000017.4(ACADS):c.624+5G>A rs2136949319
NM_000017.4(ACADS):c.625-10C>T
NM_000017.4(ACADS):c.625-3C>T
NM_000017.4(ACADS):c.625-8C>A
NM_000017.4(ACADS):c.636C>T (p.Ala212=)
NM_000017.4(ACADS):c.654_655delinsCT (p.Thr219Ser) rs1883526461
NM_000017.4(ACADS):c.670T>C (p.Leu224=)
NM_000017.4(ACADS):c.672G>A (p.Leu224=)
NM_000017.4(ACADS):c.674G>A (p.Gly225Glu) rs2136949808
NM_000017.4(ACADS):c.675dup (p.Lys226fs) rs1057516436
NM_000017.4(ACADS):c.67C>T (p.Arg23Trp) rs770222581
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.683A>C (p.Glu228Ala)
NM_000017.4(ACADS):c.68G>C (p.Arg23Pro)
NM_000017.4(ACADS):c.691C>G (p.Leu231Val)
NM_000017.4(ACADS):c.702G>A (p.Arg234=) rs1306227224
NM_000017.4(ACADS):c.711del (p.Thr238fs)
NM_000017.4(ACADS):c.712A>G (p.Thr238Ala) rs2136949858
NM_000017.4(ACADS):c.740G>T (p.Arg247Leu)
NM_000017.4(ACADS):c.760C>G (p.Leu254Val) rs979775355
NM_000017.4(ACADS):c.773G>A (p.Gly258Glu) rs2136949926
NM_000017.4(ACADS):c.795+1G>A rs752978753
NM_000017.4(ACADS):c.795+4A>G
NM_000017.4(ACADS):c.795+8C>T
NM_000017.4(ACADS):c.795+9G>T
NM_000017.4(ACADS):c.796-11G>A
NM_000017.4(ACADS):c.796-12C>T
NM_000017.4(ACADS):c.796C>G (p.Gln266Glu)
NM_000017.4(ACADS):c.79A>C (p.Thr27Pro)
NM_000017.4(ACADS):c.80C>T (p.Thr27Ile)
NM_000017.4(ACADS):c.812del (p.Gly271fs) rs2136950036
NM_000017.4(ACADS):c.817A>G (p.Ile273Val)
NM_000017.4(ACADS):c.823A>T (p.Ile275Phe) rs1883539190
NM_000017.4(ACADS):c.840G>T (p.Leu280=)
NM_000017.4(ACADS):c.842G>T (p.Gly281Val)
NM_000017.4(ACADS):c.848C>T (p.Ala283Val) rs758290381
NM_000017.4(ACADS):c.855C>T (p.Thr285=)
NM_000017.4(ACADS):c.856G>A (p.Ala286Thr) rs781119134
NM_000017.4(ACADS):c.859C>T (p.Leu287Phe) rs1373305585
NM_000017.4(ACADS):c.861C>T (p.Leu287=)
NM_000017.4(ACADS):c.862G>T (p.Asp288Tyr)
NM_000017.4(ACADS):c.868G>C (p.Ala290Pro) rs777181213
NM_000017.4(ACADS):c.86A>G (p.Tyr29Cys)
NM_000017.4(ACADS):c.872_873del (p.Val291fs)
NM_000017.4(ACADS):c.879C>T (p.Tyr293=)
NM_000017.4(ACADS):c.87C>T (p.Tyr29=)
NM_000017.4(ACADS):c.88C>T (p.Gln30Ter)
NM_000017.4(ACADS):c.897C>A (p.Ala299=)
NM_000017.4(ACADS):c.910C>T (p.Leu304Phe)
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.916A>T (p.Lys306Ter)
NM_000017.4(ACADS):c.931C>T (p.Gln311Ter)
NM_000017.4(ACADS):c.933+5T>C
NM_000017.4(ACADS):c.945_953del (p.Asp316_Ala318del) rs1555244266
NM_000017.4(ACADS):c.949_954dup (p.Met317_Ala318dup) rs1555244270
NM_000017.4(ACADS):c.94G>A (p.Val32Met)
NM_000017.4(ACADS):c.962_973del (p.Leu321_Ala324del) rs1373044759
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.984C>T (p.Thr328=)
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280
NM_000017.4(ACADS):c.989_990delinsTT (p.Arg330Leu)
NM_000017.4(ACADS):c.993T>C (p.Ala331=)
NM_000017.4(ACADS):c.995C>T (p.Ala332Val) rs1555244290
NM_001002030.2(ECHDC1):c.221-4_222delinsTA rs1783424526
NM_001002030.2(ECHDC1):c.498-40AG[2] rs770887258

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