| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.75761300T>A | CA340818218 | ACADM | c.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 | |
| 1 | g.75761300T>C | CA252826 | ACADM | c.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 |
| 1 | g.75761300T>G | CA340818219 | ACADM | c.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 | |
| 1 | g.75761301A>C | CA418707733 | ACADM | c.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 | |
| 1 | g.75761301A>G | CA913278 | ACADM | c.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 |
| 1 | g.75761301A>T | CA418707732 | ACADM | c.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 | |
| 1 | g.75761301_75761302del | CA916210464 | ACADM | c.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 |
| 1 | g.75761302C>A | CA340818221 | ACADM | c.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 | |
| 1 | g.75761302C>G | CA340818220 | ACADM | c.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 | |
| 1 | g.75761302C>T | CA24609317 | ACADM | c.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 |
| 1 | g.75761303T>A | CA340818222 | ACADM | c.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 | |
| 1 | g.75761303T>C | CA340818223 | ACADM | c.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 | |
| 1 | g.75761303T>G | CA340818224 | ACADM | c.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 | |
| 1 | g.75761304T>A | CA418707734 | ACADM | c.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 | |
| 1 | g.75761304T>C | CA418707735 | ACADM | c.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 | |
| 1 | g.75761304T>G | CA418707736 | ACADM | c.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 | |
| 1 | g.75761304_75761305insTC | CA916210465 | ACADM | c.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 |
| 1 | g.75761305G>A | CA340818225 | ACADM | c.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 | |
| 1 | g.75761305G>C | CA340818226 | ACADM | c.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 | |
| 1 | g.75761305G>T | CA340818227 | ACADM | c.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 | |
| 1 | g.75761306G>A | CA340818228 | ACADM | c.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 | |
| 1 | g.75761306G>C | CA340818230 | ACADM | c.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 | |
| 1 | g.75761306G>T | CA340818229 | ACADM | c.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 | |
| 1 | g.75761307A>C | CA418707738 | ACADM | c.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 | |
| 1 | g.75761307A>G | CA418707740 | ACADM | c.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 | |
| 1 | g.75761307A>T | CA418707742 | ACADM | c.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 | |
| 1 | g.75761308G>A | CA340818231 | ACADM | c.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 | |
| 1 | g.75761308G>C | CA340818233 | ACADM | c.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 | |
| 1 | g.75761308G>T | CA340818232 | ACADM | c.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 | |
| 1 | g.75761309G>A | CA340818234 | ACADM | c.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 | |
| 1 | g.75761309G>C | CA340818235 | ACADM | c.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 | |
| 1 | g.75761309G>T | CA340818236 | ACADM | c.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 | |
| 1 | g.75761310C>A | CA418707747 | ACADM | c.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 | |
| 1 | g.75761310C>G | CA418707748 | ACADM | c.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 | |
| 1 | g.75761310C>T | CA418707749 | ACADM | c.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 | |
| 1 | g.75761311A>C | CA340818237 | ACADM | c.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 | |
| 1 | g.75761311A>G | CA340818238 | ACADM | c.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 | |
| 1 | g.75761311A>T | CA340818239 | ACADM | c.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 | |
| 1 | g.75761312A>C | CA340818240 | ACADM | c.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 | |
| 1 | g.75761312A>G | CA340818241 | ACADM | c.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 | |
| 1 | g.75761312A>T | CA340818242 | ACADM | c.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 | |
| 1 | g.75761313T>A | CA340818243 | ACADM | c.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 | |
| 1 | g.75761313T>C | CA418707754 | ACADM | c.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 | |
| 1 | g.75761313T>G | CA340818244 | ACADM | c.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 | |
| 1 | g.75761314G>A | CA340818247 | ACADM | c.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 | |
| 1 | g.75761314G>C | CA340818246 | ACADM | c.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 | |
| 1 | g.75761314G>T | CA340818245 | ACADM | c.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 | |
| 1 | g.75761315G>A | CA340818248 | ACADM | c.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 | |
| 1 | g.75761315G>C | CA340818249 | ACADM | c.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 | |
| 1 | g.75761315G>T | CA340818250 | ACADM | c.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 |