Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.75761300T>ACA340818218ACADMc.1124T>A (p.Ile375Lys)
c.1136T>A (p.Ile379Lys)
c.1016T>A (p.Ile339Lys)
c.1223T>A (p.Ile408Lys)
c.557T>A (p.Ile186Lys)
n.397T>A
c.*710T>A (p.=)
c.*908T>A (p.=)
c.*892T>A (p.=)
n.160-7877T>A (p.=)
n.1033T>A
1g.75761300T>CCA252826ACADMc.1124T>C (p.Ile375Thr)
c.1136T>C (p.Ile379Thr)
c.1016T>C (p.Ile339Thr)
c.1223T>C (p.Ile408Thr)
c.557T>C (p.Ile186Thr)
n.397T>C
c.*710T>C (p.=)
c.*908T>C (p.=)
c.*892T>C (p.=)
n.160-7877T>C (p.=)
n.1033T>C
ClinVar dbSNP gnomAD
1g.75761300T>GCA340818219ACADMc.1124T>G (p.Ile375Arg)
c.1136T>G (p.Ile379Arg)
c.1016T>G (p.Ile339Arg)
c.1223T>G (p.Ile408Arg)
c.557T>G (p.Ile186Arg)
n.397T>G
c.*710T>G (p.=)
c.*908T>G (p.=)
c.*892T>G (p.=)
n.160-7877T>G (p.=)
n.1033T>G
1g.75761301A>CCA418707733ACADMc.1125A>C (p.Ile375=)
c.1137A>C (p.Ile379=)
c.1017A>C (p.Ile339=)
c.1224A>C (p.Ile408=)
c.558A>C (p.Ile186=)
n.398A>C
c.*711A>C (p.=)
c.*909A>C (p.=)
c.*893A>C (p.=)
n.160-7876A>C (p.=)
n.1034A>C
1g.75761301A>GCA913278ACADMc.1125A>G (p.Ile375Met)
c.1137A>G (p.Ile379Met)
c.1017A>G (p.Ile339Met)
c.1224A>G (p.Ile408Met)
c.558A>G (p.Ile186Met)
n.398A>G
c.*711A>G (p.=)
c.*909A>G (p.=)
c.*893A>G (p.=)
n.160-7876A>G (p.=)
n.1034A>G
ClinVar dbSNP ExAC gnomAD
1g.75761301A>TCA418707732ACADMc.1125A>T (p.Ile375=)
c.1137A>T (p.Ile379=)
c.1017A>T (p.Ile339=)
c.1224A>T (p.Ile408=)
c.558A>T (p.Ile186=)
n.398A>T
c.*711A>T (p.=)
c.*909A>T (p.=)
c.*893A>T (p.=)
n.160-7876A>T (p.=)
n.1034A>T
1g.75761301_75761302delCA916210464ACADMc.1125_1126del (p.Leu376TrpfsTer6)
c.1137_1138del (p.Leu380TrpfsTer6)
c.1017_1018del (p.Leu340TrpfsTer6)
c.1224_1225del (p.Leu409TrpfsTer6)
c.558_559del (p.Leu187TrpfsTer6)
n.398_399del
c.*711_*712del (p.=)
c.*909_*910del (p.=)
c.*893_*894del (p.=)
n.160-7876_160-7875del (p.=)
n.1034_1035del
dbSNP
1g.75761302C>ACA340818221ACADMc.1126C>A (p.Leu376Ile)
c.1138C>A (p.Leu380Ile)
c.1018C>A (p.Leu340Ile)
c.1225C>A (p.Leu409Ile)
c.559C>A (p.Leu187Ile)
n.399C>A
c.*712C>A (p.=)
c.*910C>A (p.=)
c.*894C>A (p.=)
n.160-7875C>A (p.=)
n.1035C>A
1g.75761302C>GCA340818220ACADMc.1126C>G (p.Leu376Val)
c.1138C>G (p.Leu380Val)
c.1018C>G (p.Leu340Val)
c.1225C>G (p.Leu409Val)
c.559C>G (p.Leu187Val)
n.399C>G
c.*712C>G (p.=)
c.*910C>G (p.=)
c.*894C>G (p.=)
n.160-7875C>G (p.=)
n.1035C>G
1g.75761302C>TCA24609317ACADMc.1126C>T (p.Leu376Phe)
c.1138C>T (p.Leu380Phe)
c.1018C>T (p.Leu340Phe)
c.1225C>T (p.Leu409Phe)
c.559C>T (p.Leu187Phe)
n.399C>T
c.*712C>T (p.=)
c.*910C>T (p.=)
c.*894C>T (p.=)
n.160-7875C>T (p.=)
n.1035C>T
dbSNP
1g.75761303T>ACA340818222ACADMc.1127T>A (p.Leu376His)
c.1139T>A (p.Leu380His)
c.1019T>A (p.Leu340His)
c.1226T>A (p.Leu409His)
c.560T>A (p.Leu187His)
n.400T>A
c.*713T>A (p.=)
c.*911T>A (p.=)
c.*895T>A (p.=)
n.160-7874T>A (p.=)
n.1036T>A
1g.75761303T>CCA340818223ACADMc.1127T>C (p.Leu376Pro)
c.1139T>C (p.Leu380Pro)
c.1019T>C (p.Leu340Pro)
c.1226T>C (p.Leu409Pro)
c.560T>C (p.Leu187Pro)
n.400T>C
c.*713T>C (p.=)
c.*911T>C (p.=)
c.*895T>C (p.=)
n.160-7874T>C (p.=)
n.1036T>C
1g.75761303T>GCA340818224ACADMc.1127T>G (p.Leu376Arg)
c.1139T>G (p.Leu380Arg)
c.1019T>G (p.Leu340Arg)
c.1226T>G (p.Leu409Arg)
c.560T>G (p.Leu187Arg)
n.400T>G
c.*713T>G (p.=)
c.*911T>G (p.=)
c.*895T>G (p.=)
n.160-7874T>G (p.=)
n.1036T>G
1g.75761304T>ACA418707734ACADMc.1128T>A (p.Leu376=)
c.1140T>A (p.Leu380=)
c.1020T>A (p.Leu340=)
c.1227T>A (p.Leu409=)
c.561T>A (p.Leu187=)
n.401T>A
c.*714T>A (p.=)
c.*912T>A (p.=)
c.*896T>A (p.=)
n.160-7873T>A (p.=)
n.1037T>A
1g.75761304T>CCA418707735ACADMc.1128T>C (p.Leu376=)
c.1140T>C (p.Leu380=)
c.1020T>C (p.Leu340=)
c.1227T>C (p.Leu409=)
c.561T>C (p.Leu187=)
n.401T>C
c.*714T>C (p.=)
c.*912T>C (p.=)
c.*896T>C (p.=)
n.160-7873T>C (p.=)
n.1037T>C
1g.75761304T>GCA418707736ACADMc.1128T>G (p.Leu376=)
c.1140T>G (p.Leu380=)
c.1020T>G (p.Leu340=)
c.1227T>G (p.Leu409=)
c.561T>G (p.Leu187=)
n.401T>G
c.*714T>G (p.=)
c.*912T>G (p.=)
c.*896T>G (p.=)
n.160-7873T>G (p.=)
n.1037T>G
1g.75761304_75761305insTCCA916210465ACADMc.1128_1129insTC (p.Gly377SerfsTer12)
c.1140_1141insTC (p.Gly381SerfsTer12)
c.1020_1021insTC (p.Gly341SerfsTer12)
c.1227_1228insTC (p.Gly410SerfsTer12)
c.561_562insTC (p.Gly188SerfsTer12)
n.401_402insTC
c.*714_*715insTC (p.=)
c.*912_*913insTC (p.=)
c.*896_*897insTC (p.=)
n.160-7873_160-7872insTC (p.=)
n.1037_1038insTC
dbSNP
1g.75761305G>ACA340818225ACADMc.1129G>A (p.Gly377Arg)
c.1141G>A (p.Gly381Arg)
c.1021G>A (p.Gly341Arg)
c.1228G>A (p.Gly410Arg)
c.562G>A (p.Gly188Arg)
n.402G>A
c.*715G>A (p.=)
c.*913G>A (p.=)
c.*897G>A (p.=)
n.160-7872G>A (p.=)
n.1038G>A
1g.75761305G>CCA340818226ACADMc.1129G>C (p.Gly377Arg)
c.1141G>C (p.Gly381Arg)
c.1021G>C (p.Gly341Arg)
c.1228G>C (p.Gly410Arg)
c.562G>C (p.Gly188Arg)
n.402G>C
c.*715G>C (p.=)
c.*913G>C (p.=)
c.*897G>C (p.=)
n.160-7872G>C (p.=)
n.1038G>C
1g.75761305G>TCA340818227ACADMc.1129G>T (p.Gly377Ter)
c.1141G>T (p.Gly381Ter)
c.1021G>T (p.Gly341Ter)
c.1228G>T (p.Gly410Ter)
c.562G>T (p.Gly188Ter)
n.402G>T
c.*715G>T (p.=)
c.*913G>T (p.=)
c.*897G>T (p.=)
n.160-7872G>T (p.=)
n.1038G>T
1g.75761306G>ACA340818228ACADMc.1130G>A (p.Gly377Glu)
c.1142G>A (p.Gly381Glu)
c.1022G>A (p.Gly341Glu)
c.1229G>A (p.Gly410Glu)
c.563G>A (p.Gly188Glu)
n.403G>A
c.*716G>A (p.=)
c.*914G>A (p.=)
c.*898G>A (p.=)
n.160-7871G>A (p.=)
n.1039G>A
1g.75761306G>CCA340818230ACADMc.1130G>C (p.Gly377Ala)
c.1142G>C (p.Gly381Ala)
c.1022G>C (p.Gly341Ala)
c.1229G>C (p.Gly410Ala)
c.563G>C (p.Gly188Ala)
n.403G>C
c.*716G>C (p.=)
c.*914G>C (p.=)
c.*898G>C (p.=)
n.160-7871G>C (p.=)
n.1039G>C
1g.75761306G>TCA340818229ACADMc.1130G>T (p.Gly377Val)
c.1142G>T (p.Gly381Val)
c.1022G>T (p.Gly341Val)
c.1229G>T (p.Gly410Val)
c.563G>T (p.Gly188Val)
n.403G>T
c.*716G>T (p.=)
c.*914G>T (p.=)
c.*898G>T (p.=)
n.160-7871G>T (p.=)
n.1039G>T
1g.75761307A>CCA418707738ACADMc.1131A>C (p.Gly377=)
c.1143A>C (p.Gly381=)
c.1023A>C (p.Gly341=)
c.1230A>C (p.Gly410=)
c.564A>C (p.Gly188=)
n.404A>C
c.*717A>C (p.=)
c.*915A>C (p.=)
c.*899A>C (p.=)
n.160-7870A>C (p.=)
n.1040A>C
1g.75761307A>GCA418707740ACADMc.1131A>G (p.Gly377=)
c.1143A>G (p.Gly381=)
c.1023A>G (p.Gly341=)
c.1230A>G (p.Gly410=)
c.564A>G (p.Gly188=)
n.404A>G
c.*717A>G (p.=)
c.*915A>G (p.=)
c.*899A>G (p.=)
n.160-7870A>G (p.=)
n.1040A>G
1g.75761307A>TCA418707742ACADMc.1131A>T (p.Gly377=)
c.1143A>T (p.Gly381=)
c.1023A>T (p.Gly341=)
c.1230A>T (p.Gly410=)
c.564A>T (p.Gly188=)
n.404A>T
c.*717A>T (p.=)
c.*915A>T (p.=)
c.*899A>T (p.=)
n.160-7870A>T (p.=)
n.1040A>T
1g.75761308G>ACA340818231ACADMc.1132G>A (p.Gly378Ser)
c.1144G>A (p.Gly382Ser)
c.1024G>A (p.Gly342Ser)
c.1231G>A (p.Gly411Ser)
c.565G>A (p.Gly189Ser)
n.405G>A
c.*718G>A (p.=)
c.*916G>A (p.=)
c.*900G>A (p.=)
n.160-7869G>A (p.=)
n.1041G>A
1g.75761308G>CCA340818233ACADMc.1132G>C (p.Gly378Arg)
c.1144G>C (p.Gly382Arg)
c.1024G>C (p.Gly342Arg)
c.1231G>C (p.Gly411Arg)
c.565G>C (p.Gly189Arg)
n.405G>C
c.*718G>C (p.=)
c.*916G>C (p.=)
c.*900G>C (p.=)
n.160-7869G>C (p.=)
n.1041G>C
1g.75761308G>TCA340818232ACADMc.1132G>T (p.Gly378Cys)
c.1144G>T (p.Gly382Cys)
c.1024G>T (p.Gly342Cys)
c.1231G>T (p.Gly411Cys)
c.565G>T (p.Gly189Cys)
n.405G>T
c.*718G>T (p.=)
c.*916G>T (p.=)
c.*900G>T (p.=)
n.160-7869G>T (p.=)
n.1041G>T
1g.75761309G>ACA340818234ACADMc.1133G>A (p.Gly378Asp)
c.1145G>A (p.Gly382Asp)
c.1025G>A (p.Gly342Asp)
c.1232G>A (p.Gly411Asp)
c.566G>A (p.Gly189Asp)
n.406G>A
c.*719G>A (p.=)
c.*917G>A (p.=)
c.*901G>A (p.=)
n.160-7868G>A (p.=)
n.1042G>A
1g.75761309G>CCA340818235ACADMc.1133G>C (p.Gly378Ala)
c.1145G>C (p.Gly382Ala)
c.1025G>C (p.Gly342Ala)
c.1232G>C (p.Gly411Ala)
c.566G>C (p.Gly189Ala)
n.406G>C
c.*719G>C (p.=)
c.*917G>C (p.=)
c.*901G>C (p.=)
n.160-7868G>C (p.=)
n.1042G>C
1g.75761309G>TCA340818236ACADMc.1133G>T (p.Gly378Val)
c.1145G>T (p.Gly382Val)
c.1025G>T (p.Gly342Val)
c.1232G>T (p.Gly411Val)
c.566G>T (p.Gly189Val)
n.406G>T
c.*719G>T (p.=)
c.*917G>T (p.=)
c.*901G>T (p.=)
n.160-7868G>T (p.=)
n.1042G>T
1g.75761310C>ACA418707747ACADMc.1134C>A (p.Gly378=)
c.1146C>A (p.Gly382=)
c.1026C>A (p.Gly342=)
c.1233C>A (p.Gly411=)
c.567C>A (p.Gly189=)
n.407C>A
c.*720C>A (p.=)
c.*918C>A (p.=)
c.*902C>A (p.=)
n.160-7867C>A (p.=)
n.1043C>A
1g.75761310C>GCA418707748ACADMc.1134C>G (p.Gly378=)
c.1146C>G (p.Gly382=)
c.1026C>G (p.Gly342=)
c.1233C>G (p.Gly411=)
c.567C>G (p.Gly189=)
n.407C>G
c.*720C>G (p.=)
c.*918C>G (p.=)
c.*902C>G (p.=)
n.160-7867C>G (p.=)
n.1043C>G
1g.75761310C>TCA418707749ACADMc.1134C>T (p.Gly378=)
c.1146C>T (p.Gly382=)
c.1026C>T (p.Gly342=)
c.1233C>T (p.Gly411=)
c.567C>T (p.Gly189=)
n.407C>T
c.*720C>T (p.=)
c.*918C>T (p.=)
c.*902C>T (p.=)
n.160-7867C>T (p.=)
n.1043C>T
1g.75761311A>CCA340818237ACADMc.1135A>C (p.Asn379His)
c.1147A>C (p.Asn383His)
c.1027A>C (p.Asn343His)
c.1234A>C (p.Asn412His)
c.568A>C (p.Asn190His)
n.408A>C
c.*721A>C (p.=)
c.*919A>C (p.=)
c.*903A>C (p.=)
n.160-7866A>C (p.=)
n.1044A>C
1g.75761311A>GCA340818238ACADMc.1135A>G (p.Asn379Asp)
c.1147A>G (p.Asn383Asp)
c.1027A>G (p.Asn343Asp)
c.1234A>G (p.Asn412Asp)
c.568A>G (p.Asn190Asp)
n.408A>G
c.*721A>G (p.=)
c.*919A>G (p.=)
c.*903A>G (p.=)
n.160-7866A>G (p.=)
n.1044A>G
1g.75761311A>TCA340818239ACADMc.1135A>T (p.Asn379Tyr)
c.1147A>T (p.Asn383Tyr)
c.1027A>T (p.Asn343Tyr)
c.1234A>T (p.Asn412Tyr)
c.568A>T (p.Asn190Tyr)
n.408A>T
c.*721A>T (p.=)
c.*919A>T (p.=)
c.*903A>T (p.=)
n.160-7866A>T (p.=)
n.1044A>T
1g.75761312A>CCA340818240ACADMc.1136A>C (p.Asn379Thr)
c.1148A>C (p.Asn383Thr)
c.1028A>C (p.Asn343Thr)
c.1235A>C (p.Asn412Thr)
c.569A>C (p.Asn190Thr)
n.409A>C
c.*722A>C (p.=)
c.*920A>C (p.=)
c.*904A>C (p.=)
n.160-7865A>C (p.=)
n.1045A>C
1g.75761312A>GCA340818241ACADMc.1136A>G (p.Asn379Ser)
c.1148A>G (p.Asn383Ser)
c.1028A>G (p.Asn343Ser)
c.1235A>G (p.Asn412Ser)
c.569A>G (p.Asn190Ser)
n.409A>G
c.*722A>G (p.=)
c.*920A>G (p.=)
c.*904A>G (p.=)
n.160-7865A>G (p.=)
n.1045A>G
1g.75761312A>TCA340818242ACADMc.1136A>T (p.Asn379Ile)
c.1148A>T (p.Asn383Ile)
c.1028A>T (p.Asn343Ile)
c.1235A>T (p.Asn412Ile)
c.569A>T (p.Asn190Ile)
n.409A>T
c.*722A>T (p.=)
c.*920A>T (p.=)
c.*904A>T (p.=)
n.160-7865A>T (p.=)
n.1045A>T
1g.75761313T>ACA340818243ACADMc.1137T>A (p.Asn379Lys)
c.1149T>A (p.Asn383Lys)
c.1029T>A (p.Asn343Lys)
c.1236T>A (p.Asn412Lys)
c.570T>A (p.Asn190Lys)
n.410T>A
c.*723T>A (p.=)
c.*921T>A (p.=)
c.*905T>A (p.=)
n.160-7864T>A (p.=)
n.1046T>A
1g.75761313T>CCA418707754ACADMc.1137T>C (p.Asn379=)
c.1149T>C (p.Asn383=)
c.1029T>C (p.Asn343=)
c.1236T>C (p.Asn412=)
c.570T>C (p.Asn190=)
n.410T>C
c.*723T>C (p.=)
c.*921T>C (p.=)
c.*905T>C (p.=)
n.160-7864T>C (p.=)
n.1046T>C
1g.75761313T>GCA340818244ACADMc.1137T>G (p.Asn379Lys)
c.1149T>G (p.Asn383Lys)
c.1029T>G (p.Asn343Lys)
c.1236T>G (p.Asn412Lys)
c.570T>G (p.Asn190Lys)
n.410T>G
c.*723T>G (p.=)
c.*921T>G (p.=)
c.*905T>G (p.=)
n.160-7864T>G (p.=)
n.1046T>G
1g.75761314G>ACA340818247ACADMc.1138G>A (p.Gly380Arg)
c.1150G>A (p.Gly384Arg)
c.1030G>A (p.Gly344Arg)
c.1237G>A (p.Gly413Arg)
c.571G>A (p.Gly191Arg)
n.411G>A
c.*724G>A (p.=)
c.*922G>A (p.=)
c.*906G>A (p.=)
n.160-7863G>A (p.=)
n.1047G>A
1g.75761314G>CCA340818246ACADMc.1138G>C (p.Gly380Arg)
c.1150G>C (p.Gly384Arg)
c.1030G>C (p.Gly344Arg)
c.1237G>C (p.Gly413Arg)
c.571G>C (p.Gly191Arg)
n.411G>C
c.*724G>C (p.=)
c.*922G>C (p.=)
c.*906G>C (p.=)
n.160-7863G>C (p.=)
n.1047G>C
1g.75761314G>TCA340818245ACADMc.1138G>T (p.Gly380Ter)
c.1150G>T (p.Gly384Ter)
c.1030G>T (p.Gly344Ter)
c.1237G>T (p.Gly413Ter)
c.571G>T (p.Gly191Ter)
n.411G>T
c.*724G>T (p.=)
c.*922G>T (p.=)
c.*906G>T (p.=)
n.160-7863G>T (p.=)
n.1047G>T
1g.75761315G>ACA340818248ACADMc.1139G>A (p.Gly380Glu)
c.1151G>A (p.Gly384Glu)
c.1031G>A (p.Gly344Glu)
c.1238G>A (p.Gly413Glu)
c.572G>A (p.Gly191Glu)
n.412G>A
c.*725G>A (p.=)
c.*923G>A (p.=)
c.*907G>A (p.=)
n.160-7862G>A (p.=)
n.1048G>A
1g.75761315G>CCA340818249ACADMc.1139G>C (p.Gly380Ala)
c.1151G>C (p.Gly384Ala)
c.1031G>C (p.Gly344Ala)
c.1238G>C (p.Gly413Ala)
c.572G>C (p.Gly191Ala)
n.412G>C
c.*725G>C (p.=)
c.*923G>C (p.=)
c.*907G>C (p.=)
n.160-7862G>C (p.=)
n.1048G>C
1g.75761315G>TCA340818250ACADMc.1139G>T (p.Gly380Val)
c.1151G>T (p.Gly384Val)
c.1031G>T (p.Gly344Val)
c.1238G>T (p.Gly413Val)
c.572G>T (p.Gly191Val)
n.412G>T
c.*725G>T (p.=)
c.*923G>T (p.=)
c.*907G>T (p.=)
n.160-7862G>T (p.=)
n.1048G>T

Number of alleles fetched