| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.75761200T>A | CA340818006 | ACADM | c.1024T>A (p.Trp342Arg) c.1036T>A (p.Trp346Arg) c.916T>A (p.Trp306Arg) c.1123T>A (p.Trp375Arg) c.457T>A (p.Trp153Arg) n.297T>A c.*610T>A (p.=) c.*808T>A (p.=) c.*792T>A (p.=) n.160-7977T>A (p.=) n.933T>A n.754T>A c.*765T>A (p.=) | |
| 1 | g.75761200T>C | CA340818007 | ACADM | c.1024T>C (p.Trp342Arg) c.1036T>C (p.Trp346Arg) c.916T>C (p.Trp306Arg) c.1123T>C (p.Trp375Arg) c.457T>C (p.Trp153Arg) n.297T>C c.*610T>C (p.=) c.*808T>C (p.=) c.*792T>C (p.=) n.160-7977T>C (p.=) n.933T>C n.754T>C c.*765T>C (p.=) | |
| 1 | g.75761200T>G | CA340818008 | ACADM | c.1024T>G (p.Trp342Gly) c.1036T>G (p.Trp346Gly) c.916T>G (p.Trp306Gly) c.1123T>G (p.Trp375Gly) c.457T>G (p.Trp153Gly) n.297T>G c.*610T>G (p.=) c.*808T>G (p.=) c.*792T>G (p.=) n.160-7977T>G (p.=) n.933T>G n.754T>G c.*765T>G (p.=) | |
| 1 | g.75761201G>A | CA340818009 | ACADM | c.1025G>A (p.Trp342Ter) c.1037G>A (p.Trp346Ter) c.917G>A (p.Trp306Ter) c.1124G>A (p.Trp375Ter) c.458G>A (p.Trp153Ter) n.298G>A c.*611G>A (p.=) c.*809G>A (p.=) c.*793G>A (p.=) n.160-7976G>A (p.=) n.934G>A n.755G>A c.*766G>A (p.=) | gnomAD |
| 1 | g.75761201G>C | CA340818010 | ACADM | c.1025G>C (p.Trp342Ser) c.1037G>C (p.Trp346Ser) c.917G>C (p.Trp306Ser) c.1124G>C (p.Trp375Ser) c.458G>C (p.Trp153Ser) n.298G>C c.*611G>C (p.=) c.*809G>C (p.=) c.*793G>C (p.=) n.160-7976G>C (p.=) n.934G>C n.755G>C c.*766G>C (p.=) | |
| 1 | g.75761201G>T | CA340818011 | ACADM | c.1025G>T (p.Trp342Leu) c.1037G>T (p.Trp346Leu) c.917G>T (p.Trp306Leu) c.1124G>T (p.Trp375Leu) c.458G>T (p.Trp153Leu) n.298G>T c.*611G>T (p.=) c.*809G>T (p.=) c.*793G>T (p.=) n.160-7976G>T (p.=) n.934G>T n.755G>T c.*766G>T (p.=) | |
| 1 | g.75761201del | CA913264 | ACADM | c.1025del (p.Glu343ArgfsTer26) c.1037del (p.Glu347ArgfsTer26) c.917del (p.Glu307ArgfsTer26) c.1124del (p.Glu376ArgfsTer26) c.458del (p.Glu154ArgfsTer26) n.298del c.*611del (p.=) c.*809del (p.=) c.*793del (p.=) n.160-7976del (p.=) n.934del n.755del c.*766del (p.=) | dbSNP ExAC |
| 1 | g.75761202G>A | CA340818012 | ACADM | c.1026G>A (p.Trp342Ter) c.1038G>A (p.Trp346Ter) c.918G>A (p.Trp306Ter) c.1125G>A (p.Trp375Ter) c.459G>A (p.Trp153Ter) n.299G>A c.*612G>A (p.=) c.*810G>A (p.=) c.*794G>A (p.=) n.160-7975G>A (p.=) n.935G>A n.756G>A c.*767G>A (p.=) | |
| 1 | g.75761202G>C | CA340818013 | ACADM | c.1026G>C (p.Trp342Cys) c.1038G>C (p.Trp346Cys) c.918G>C (p.Trp306Cys) c.1125G>C (p.Trp375Cys) c.459G>C (p.Trp153Cys) n.299G>C c.*612G>C (p.=) c.*810G>C (p.=) c.*794G>C (p.=) n.160-7975G>C (p.=) n.935G>C n.756G>C c.*767G>C (p.=) | |
| 1 | g.75761202G>T | CA340818014 | ACADM | c.1026G>T (p.Trp342Cys) c.1038G>T (p.Trp346Cys) c.918G>T (p.Trp306Cys) c.1125G>T (p.Trp375Cys) c.459G>T (p.Trp153Cys) n.299G>T c.*612G>T (p.=) c.*810G>T (p.=) c.*794G>T (p.=) n.160-7975G>T (p.=) n.935G>T n.756G>T c.*767G>T (p.=) | |
| 1 | g.75761203G>A | CA340818017 | ACADM | c.1027G>A (p.Glu343Lys) c.1039G>A (p.Glu347Lys) c.919G>A (p.Glu307Lys) c.1126G>A (p.Glu376Lys) c.460G>A (p.Glu154Lys) n.300G>A c.*613G>A (p.=) c.*811G>A (p.=) c.*795G>A (p.=) n.160-7974G>A (p.=) n.936G>A n.757G>A c.*768G>A (p.=) | |
| 1 | g.75761203G>C | CA340818016 | ACADM | c.1027G>C (p.Glu343Gln) c.1039G>C (p.Glu347Gln) c.919G>C (p.Glu307Gln) c.1126G>C (p.Glu376Gln) c.460G>C (p.Glu154Gln) n.300G>C c.*613G>C (p.=) c.*811G>C (p.=) c.*795G>C (p.=) n.160-7974G>C (p.=) n.936G>C n.757G>C c.*768G>C (p.=) | |
| 1 | g.75761203G>T | CA340818015 | ACADM | c.1027G>T (p.Glu343Ter) c.1039G>T (p.Glu347Ter) c.919G>T (p.Glu307Ter) c.1126G>T (p.Glu376Ter) c.460G>T (p.Glu154Ter) n.300G>T c.*613G>T (p.=) c.*811G>T (p.=) c.*795G>T (p.=) n.160-7974G>T (p.=) n.936G>T n.757G>T c.*768G>T (p.=) | |
| 1 | g.75761204A>C | CA340818018 | ACADM | c.1028A>C (p.Glu343Ala) c.1040A>C (p.Glu347Ala) c.920A>C (p.Glu307Ala) c.1127A>C (p.Glu376Ala) c.461A>C (p.Glu154Ala) n.301A>C c.*614A>C (p.=) c.*812A>C (p.=) c.*796A>C (p.=) n.160-7973A>C (p.=) n.937A>C n.758A>C c.*769A>C (p.=) | |
| 1 | g.75761204A>G | CA340818019 | ACADM | c.1028A>G (p.Glu343Gly) c.1040A>G (p.Glu347Gly) c.920A>G (p.Glu307Gly) c.1127A>G (p.Glu376Gly) c.461A>G (p.Glu154Gly) n.301A>G c.*614A>G (p.=) c.*812A>G (p.=) c.*796A>G (p.=) n.160-7973A>G (p.=) n.937A>G n.758A>G c.*769A>G (p.=) | |
| 1 | g.75761204A>T | CA340818020 | ACADM | c.1028A>T (p.Glu343Val) c.1040A>T (p.Glu347Val) c.920A>T (p.Glu307Val) c.1127A>T (p.Glu376Val) c.461A>T (p.Glu154Val) n.301A>T c.*614A>T (p.=) c.*812A>T (p.=) c.*796A>T (p.=) n.160-7973A>T (p.=) n.937A>T n.758A>T c.*769A>T (p.=) | |
| 1 | g.75761205G>A | CA418707563 | ACADM | c.1029G>A (p.Glu343=) c.1041G>A (p.Glu347=) c.921G>A (p.Glu307=) c.1128G>A (p.Glu376=) c.462G>A (p.Glu154=) n.302G>A c.*615G>A (p.=) c.*813G>A (p.=) c.*797G>A (p.=) n.160-7972G>A (p.=) n.938G>A n.759G>A c.*770G>A (p.=) | |
| 1 | g.75761205G>C | CA340818021 | ACADM | c.1029G>C (p.Glu343Asp) c.1041G>C (p.Glu347Asp) c.921G>C (p.Glu307Asp) c.1128G>C (p.Glu376Asp) c.462G>C (p.Glu154Asp) n.302G>C c.*615G>C (p.=) c.*813G>C (p.=) c.*797G>C (p.=) n.160-7972G>C (p.=) n.938G>C n.759G>C c.*770G>C (p.=) | |
| 1 | g.75761205G>T | CA340818022 | ACADM | c.1029G>T (p.Glu343Asp) c.1041G>T (p.Glu347Asp) c.921G>T (p.Glu307Asp) c.1128G>T (p.Glu376Asp) c.462G>T (p.Glu154Asp) n.302G>T c.*615G>T (p.=) c.*813G>T (p.=) c.*797G>T (p.=) n.160-7972G>T (p.=) n.938G>T n.759G>T c.*770G>T (p.=) | |
| 1 | g.75761206G>A | CA340818023 | ACADM | c.1030G>A (p.Val344Ile) c.1042G>A (p.Val348Ile) c.922G>A (p.Val308Ile) c.1129G>A (p.Val377Ile) c.463G>A (p.Val155Ile) n.303G>A c.*616G>A (p.=) c.*814G>A (p.=) c.*798G>A (p.=) n.160-7971G>A (p.=) n.939G>A n.760G>A c.*771G>A (p.=) | |
| 1 | g.75761206G>C | CA340818024 | ACADM | c.1030G>C (p.Val344Leu) c.1042G>C (p.Val348Leu) c.922G>C (p.Val308Leu) c.1129G>C (p.Val377Leu) c.463G>C (p.Val155Leu) n.303G>C c.*616G>C (p.=) c.*814G>C (p.=) c.*798G>C (p.=) n.160-7971G>C (p.=) n.939G>C n.760G>C c.*771G>C (p.=) | |
| 1 | g.75761206G>T | CA340818025 | ACADM | c.1030G>T (p.Val344Phe) c.1042G>T (p.Val348Phe) c.922G>T (p.Val308Phe) c.1129G>T (p.Val377Phe) c.463G>T (p.Val155Phe) n.303G>T c.*616G>T (p.=) c.*814G>T (p.=) c.*798G>T (p.=) n.160-7971G>T (p.=) n.939G>T n.760G>T c.*771G>T (p.=) | |
| 1 | g.75761207T>A | CA340818026 | ACADM | c.1031T>A (p.Val344Asp) c.1043T>A (p.Val348Asp) c.923T>A (p.Val308Asp) c.1130T>A (p.Val377Asp) c.464T>A (p.Val155Asp) n.304T>A c.*617T>A (p.=) c.*815T>A (p.=) c.*799T>A (p.=) n.160-7970T>A (p.=) n.940T>A n.761T>A c.*772T>A (p.=) | |
| 1 | g.75761207T>C | CA340818027 | ACADM | c.1031T>C (p.Val344Ala) c.1043T>C (p.Val348Ala) c.923T>C (p.Val308Ala) c.1130T>C (p.Val377Ala) c.464T>C (p.Val155Ala) n.304T>C c.*617T>C (p.=) c.*815T>C (p.=) c.*799T>C (p.=) n.160-7970T>C (p.=) n.940T>C n.761T>C c.*772T>C (p.=) | |
| 1 | g.75761207T>G | CA340818028 | ACADM | c.1031T>G (p.Val344Gly) c.1043T>G (p.Val348Gly) c.923T>G (p.Val308Gly) c.1130T>G (p.Val377Gly) c.464T>G (p.Val155Gly) n.304T>G c.*617T>G (p.=) c.*815T>G (p.=) c.*799T>G (p.=) n.160-7970T>G (p.=) n.940T>G n.761T>G c.*772T>G (p.=) | |
| 1 | g.75761208T>A | CA913265 | ACADM | c.1032T>A (p.Val344=) c.1044T>A (p.Val348=) c.924T>A (p.Val308=) c.1131T>A (p.Val377=) c.465T>A (p.Val155=) n.305T>A c.*618T>A (p.=) c.*816T>A (p.=) c.*800T>A (p.=) n.160-7969T>A (p.=) n.941T>A n.762T>A c.*773T>A (p.=) | dbSNP ExAC gnomAD |
| 1 | g.75761208T>C | CA24609202 | ACADM | c.1032T>C (p.Val344=) c.1044T>C (p.Val348=) c.924T>C (p.Val308=) c.1131T>C (p.Val377=) c.465T>C (p.Val155=) n.305T>C c.*618T>C (p.=) c.*816T>C (p.=) c.*800T>C (p.=) n.160-7969T>C (p.=) n.941T>C n.762T>C c.*773T>C (p.=) | dbSNP |
| 1 | g.75761208T>G | CA418707567 | ACADM | c.1032T>G (p.Val344=) c.1044T>G (p.Val348=) c.924T>G (p.Val308=) c.1131T>G (p.Val377=) c.465T>G (p.Val155=) n.305T>G c.*618T>G (p.=) c.*816T>G (p.=) c.*800T>G (p.=) n.160-7969T>G (p.=) n.941T>G n.762T>G c.*773T>G (p.=) | |
| 1 | g.75761209G>A | CA340818030 | ACADM | c.1033G>A (p.Asp345Asn) c.1045G>A (p.Asp349Asn) c.925G>A (p.Asp309Asn) c.1132G>A (p.Asp378Asn) c.466G>A (p.Asp156Asn) n.306G>A c.*619G>A (p.=) c.*817G>A (p.=) c.*801G>A (p.=) n.160-7968G>A (p.=) n.942G>A c.*774G>A (p.=) | |
| 1 | g.75761209G>C | CA913266 | ACADM | c.1033G>C (p.Asp345His) c.1045G>C (p.Asp349His) c.925G>C (p.Asp309His) c.1132G>C (p.Asp378His) c.466G>C (p.Asp156His) n.306G>C c.*619G>C (p.=) c.*817G>C (p.=) c.*801G>C (p.=) n.160-7968G>C (p.=) n.942G>C c.*774G>C (p.=) | dbSNP ExAC gnomAD |
| 1 | g.75761209G>T | CA340818029 | ACADM | c.1033G>T (p.Asp345Tyr) c.1045G>T (p.Asp349Tyr) c.925G>T (p.Asp309Tyr) c.1132G>T (p.Asp378Tyr) c.466G>T (p.Asp156Tyr) n.306G>T c.*619G>T (p.=) c.*817G>T (p.=) c.*801G>T (p.=) n.160-7968G>T (p.=) n.942G>T c.*774G>T (p.=) | |
| 1 | g.75761210A>C | CA340818031 | ACADM | c.1034A>C (p.Asp345Ala) c.1046A>C (p.Asp349Ala) c.926A>C (p.Asp309Ala) c.1133A>C (p.Asp378Ala) c.467A>C (p.Asp156Ala) n.307A>C c.*620A>C (p.=) c.*818A>C (p.=) c.*802A>C (p.=) n.160-7967A>C (p.=) n.943A>C c.*775A>C (p.=) | |
| 1 | g.75761210A>G | CA340818032 | ACADM | c.1034A>G (p.Asp345Gly) c.1046A>G (p.Asp349Gly) c.926A>G (p.Asp309Gly) c.1133A>G (p.Asp378Gly) c.467A>G (p.Asp156Gly) n.307A>G c.*620A>G (p.=) c.*818A>G (p.=) c.*802A>G (p.=) n.160-7967A>G (p.=) n.943A>G c.*775A>G (p.=) | |
| 1 | g.75761210A>T | CA913267 | ACADM | c.1034A>T (p.Asp345Val) c.1046A>T (p.Asp349Val) c.926A>T (p.Asp309Val) c.1133A>T (p.Asp378Val) c.467A>T (p.Asp156Val) n.307A>T c.*620A>T (p.=) c.*818A>T (p.=) c.*802A>T (p.=) n.160-7967A>T (p.=) n.943A>T c.*775A>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 1 | g.75761211T>A | CA340818033 | ACADM | c.1035T>A (p.Asp345Glu) c.1047T>A (p.Asp349Glu) c.927T>A (p.Asp309Glu) c.1134T>A (p.Asp378Glu) c.468T>A (p.Asp156Glu) n.308T>A c.*621T>A (p.=) c.*819T>A (p.=) c.*803T>A (p.=) n.160-7966T>A (p.=) n.944T>A c.*776T>A (p.=) | |
| 1 | g.75761211T>C | CA418707574 | ACADM | c.1035T>C (p.Asp345=) c.1047T>C (p.Asp349=) c.927T>C (p.Asp309=) c.1134T>C (p.Asp378=) c.468T>C (p.Asp156=) n.308T>C c.*621T>C (p.=) c.*819T>C (p.=) c.*803T>C (p.=) n.160-7966T>C (p.=) n.944T>C c.*776T>C (p.=) | |
| 1 | g.75761211T>G | CA340818034 | ACADM | c.1035T>G (p.Asp345Glu) c.1047T>G (p.Asp349Glu) c.927T>G (p.Asp309Glu) c.1134T>G (p.Asp378Glu) c.468T>G (p.Asp156Glu) n.308T>G c.*621T>G (p.=) c.*819T>G (p.=) c.*803T>G (p.=) n.160-7966T>G (p.=) n.944T>G c.*776T>G (p.=) | |
| 1 | g.75761212T>A | CA340818037 | ACADM | c.1036T>A (p.Ser346Thr) c.1048T>A (p.Ser350Thr) c.928T>A (p.Ser310Thr) c.1135T>A (p.Ser379Thr) c.469T>A (p.Ser157Thr) n.309T>A c.*622T>A (p.=) c.*820T>A (p.=) c.*804T>A (p.=) n.160-7965T>A (p.=) n.945T>A c.*777T>A (p.=) | |
| 1 | g.75761212T>C | CA340818036 | ACADM | c.1036T>C (p.Ser346Pro) c.1048T>C (p.Ser350Pro) c.928T>C (p.Ser310Pro) c.1135T>C (p.Ser379Pro) c.469T>C (p.Ser157Pro) n.309T>C c.*622T>C (p.=) c.*820T>C (p.=) c.*804T>C (p.=) n.160-7965T>C (p.=) n.945T>C c.*777T>C (p.=) | |
| 1 | g.75761212T>G | CA340818035 | ACADM | c.1036T>G (p.Ser346Ala) c.1048T>G (p.Ser350Ala) c.928T>G (p.Ser310Ala) c.1135T>G (p.Ser379Ala) c.469T>G (p.Ser157Ala) n.309T>G c.*622T>G (p.=) c.*820T>G (p.=) c.*804T>G (p.=) n.160-7965T>G (p.=) n.945T>G c.*777T>G (p.=) | |
| 1 | g.75761213C>A | CA340818038 | ACADM | c.1037C>A (p.Ser346Tyr) c.1049C>A (p.Ser350Tyr) c.929C>A (p.Ser310Tyr) c.1136C>A (p.Ser379Tyr) c.470C>A (p.Ser157Tyr) n.310C>A c.*623C>A (p.=) c.*821C>A (p.=) c.*805C>A (p.=) n.160-7964C>A (p.=) n.946C>A c.*778C>A (p.=) | COSMIC |
| 1 | g.75761213C>G | CA340818039 | ACADM | c.1037C>G (p.Ser346Cys) c.1049C>G (p.Ser350Cys) c.929C>G (p.Ser310Cys) c.1136C>G (p.Ser379Cys) c.470C>G (p.Ser157Cys) n.310C>G c.*623C>G (p.=) c.*821C>G (p.=) c.*805C>G (p.=) n.160-7964C>G (p.=) n.946C>G c.*778C>G (p.=) | |
| 1 | g.75761213C>T | CA340818040 | ACADM | c.1037C>T (p.Ser346Phe) c.1049C>T (p.Ser350Phe) c.929C>T (p.Ser310Phe) c.1136C>T (p.Ser379Phe) c.470C>T (p.Ser157Phe) n.310C>T c.*623C>T (p.=) c.*821C>T (p.=) c.*805C>T (p.=) n.160-7964C>T (p.=) n.946C>T c.*778C>T (p.=) | |
| 1 | g.75761214T>A | CA418707576 | ACADM | c.1038T>A (p.Ser346=) c.1050T>A (p.Ser350=) c.930T>A (p.Ser310=) c.1137T>A (p.Ser379=) c.471T>A (p.Ser157=) n.311T>A c.*624T>A (p.=) c.*822T>A (p.=) c.*806T>A (p.=) n.160-7963T>A (p.=) n.947T>A c.*779T>A (p.=) | |
| 1 | g.75761214T>C | CA418707577 | ACADM | c.1038T>C (p.Ser346=) c.1050T>C (p.Ser350=) c.930T>C (p.Ser310=) c.1137T>C (p.Ser379=) c.471T>C (p.Ser157=) n.311T>C c.*624T>C (p.=) c.*822T>C (p.=) c.*806T>C (p.=) n.160-7963T>C (p.=) n.947T>C c.*779T>C (p.=) | |
| 1 | g.75761214T>G | CA418707579 | ACADM | c.1038T>G (p.Ser346=) c.1050T>G (p.Ser350=) c.930T>G (p.Ser310=) c.1137T>G (p.Ser379=) c.471T>G (p.Ser157=) n.311T>G c.*624T>G (p.=) c.*822T>G (p.=) c.*806T>G (p.=) n.160-7963T>G (p.=) n.947T>G c.*779T>G (p.=) | |
| 1 | g.75761215G>A | CA340818041 | ACADM | c.1039G>A (p.Gly347Ser) c.1051G>A (p.Gly351Ser) c.931G>A (p.Gly311Ser) c.1138G>A (p.Gly380Ser) c.472G>A (p.Gly158Ser) n.312G>A c.*625G>A (p.=) c.*823G>A (p.=) c.*807G>A (p.=) n.160-7962G>A (p.=) n.948G>A c.*780G>A (p.=) | |
| 1 | g.75761215G>C | CA340818042 | ACADM | c.1039G>C (p.Gly347Arg) c.1051G>C (p.Gly351Arg) c.931G>C (p.Gly311Arg) c.1138G>C (p.Gly380Arg) c.472G>C (p.Gly158Arg) n.312G>C c.*625G>C (p.=) c.*823G>C (p.=) c.*807G>C (p.=) n.160-7962G>C (p.=) n.948G>C c.*780G>C (p.=) | |
| 1 | g.75761215G>T | CA340818043 | ACADM | c.1039G>T (p.Gly347Cys) c.1051G>T (p.Gly351Cys) c.931G>T (p.Gly311Cys) c.1138G>T (p.Gly380Cys) c.472G>T (p.Gly158Cys) n.312G>T c.*625G>T (p.=) c.*823G>T (p.=) c.*807G>T (p.=) n.160-7962G>T (p.=) n.948G>T c.*780G>T (p.=) | |
| 1 | g.75761216G>A | CA340818044 | ACADM | c.1040G>A (p.Gly347Asp) c.1052G>A (p.Gly351Asp) c.932G>A (p.Gly311Asp) c.1139G>A (p.Gly380Asp) c.473G>A (p.Gly158Asp) n.313G>A c.*626G>A (p.=) c.*824G>A (p.=) c.*808G>A (p.=) n.160-7961G>A (p.=) n.949G>A c.*781G>A (p.=) |