ClinVar Miner

List of variants in gene ACADS studied for Deficiency of butyryl-CoA dehydrogenase

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 423
Download table as spreadsheet
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_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.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
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr) rs1267288663 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_000012.11:g.(?_121175482)_(121175653_?)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+19G>A
NM_000017.4(ACADS):c.1029+1G>A rs1057516639
NM_000017.4(ACADS):c.1029+6del
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.105dup (p.Glu36fs)
NM_000017.4(ACADS):c.1064C>T (p.Ala355Val) rs770439736
NM_000017.4(ACADS):c.1065C>T (p.Ala355=)
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.1070C>A (p.Thr357Asn)
NM_000017.4(ACADS):c.1072G>A (p.Ala358Thr)
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.1132del (p.Ala378fs)
NM_000017.4(ACADS):c.1141C>A (p.His381Asn) rs1219162519
NM_000017.4(ACADS):c.1142A>T (p.His381Leu)
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.1172A>G (p.Tyr391Cys)
NM_000017.4(ACADS):c.1173C>A (p.Tyr391Ter)
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.191A>G (p.His64Arg)
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>A
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>A (p.Ala81=)
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.261G>A (p.Glu87=)
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.320G>A (p.Arg107His)
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+10C>T
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.375G>T (p.Gly125=)
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+3G>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.507C>T (p.Thr169=)
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.561_568del (p.Asn188fs)
NM_000017.4(ACADS):c.576T>C (p.Ala192=)
NM_000017.4(ACADS):c.585C>T (p.Ala195=)
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.617A>C (p.Gln206Pro)
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.625-15C>T
NM_000017.4(ACADS):c.625-3C>T
NM_000017.4(ACADS):c.625-8C>A
NM_000017.4(ACADS):c.635C>A (p.Ala212Asp)
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.691C>T (p.Leu231=)
NM_000017.4(ACADS):c.702G>A (p.Arg234=) rs1306227224
NM_000017.4(ACADS):c.707C>T (p.Ser236Leu)
NM_000017.4(ACADS):c.711del (p.Thr238fs)
NM_000017.4(ACADS):c.712A>G (p.Thr238Ala) rs2136949858
NM_000017.4(ACADS):c.728T>G (p.Phe243Cys)
NM_000017.4(ACADS):c.740G>T (p.Arg247Leu)
NM_000017.4(ACADS):c.760C>G (p.Leu254Val) rs979775355
NM_000017.4(ACADS):c.762_911del150 (p.Gly255_Leu304del)
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.826G>T (p.Ala276Ser)
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+1G>A
NM_000017.4(ACADS):c.933+5T>C
NM_000017.4(ACADS):c.939G>C (p.Lys313Asn)
NM_000017.4(ACADS):c.944_946del (p.Ala315del) rs1290727105
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.962T>C (p.Leu321Pro)
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.976C>T (p.Leu326=)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.