Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.75761200T>ACA340818006ACADMc.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.=)
1g.75761200T>CCA340818007ACADMc.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.=)
1g.75761200T>GCA340818008ACADMc.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.=)
1g.75761201G>ACA340818009ACADMc.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
1g.75761201G>CCA340818010ACADMc.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.=)
1g.75761201G>TCA340818011ACADMc.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.=)
1g.75761201delCA913264ACADMc.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
1g.75761202G>ACA340818012ACADMc.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.=)
1g.75761202G>CCA340818013ACADMc.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.=)
1g.75761202G>TCA340818014ACADMc.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.=)
1g.75761203G>ACA340818017ACADMc.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.=)
1g.75761203G>CCA340818016ACADMc.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.=)
1g.75761203G>TCA340818015ACADMc.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.=)
1g.75761204A>CCA340818018ACADMc.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.=)
1g.75761204A>GCA340818019ACADMc.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.=)
1g.75761204A>TCA340818020ACADMc.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.=)
1g.75761205G>ACA418707563ACADMc.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.=)
1g.75761205G>CCA340818021ACADMc.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.=)
1g.75761205G>TCA340818022ACADMc.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.=)
1g.75761206G>ACA340818023ACADMc.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.=)
1g.75761206G>CCA340818024ACADMc.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.=)
1g.75761206G>TCA340818025ACADMc.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.=)
1g.75761207T>ACA340818026ACADMc.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.=)
1g.75761207T>CCA340818027ACADMc.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.=)
1g.75761207T>GCA340818028ACADMc.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.=)
1g.75761208T>ACA913265ACADMc.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
1g.75761208T>CCA24609202ACADMc.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
1g.75761208T>GCA418707567ACADMc.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.=)
1g.75761209G>ACA340818030ACADMc.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.=)
1g.75761209G>CCA913266ACADMc.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
1g.75761209G>TCA340818029ACADMc.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.=)
1g.75761210A>CCA340818031ACADMc.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.=)
1g.75761210A>GCA340818032ACADMc.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.=)
1g.75761210A>TCA913267ACADMc.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
1g.75761211T>ACA340818033ACADMc.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.=)
1g.75761211T>CCA418707574ACADMc.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.=)
1g.75761211T>GCA340818034ACADMc.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.=)
1g.75761212T>ACA340818037ACADMc.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.=)
1g.75761212T>CCA340818036ACADMc.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.=)
1g.75761212T>GCA340818035ACADMc.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.=)
1g.75761213C>ACA340818038ACADMc.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
1g.75761213C>GCA340818039ACADMc.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.=)
1g.75761213C>TCA340818040ACADMc.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.=)
1g.75761214T>ACA418707576ACADMc.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.=)
1g.75761214T>CCA418707577ACADMc.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.=)
1g.75761214T>GCA418707579ACADMc.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.=)
1g.75761215G>ACA340818041ACADMc.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.=)
1g.75761215G>CCA340818042ACADMc.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.=)
1g.75761215G>TCA340818043ACADMc.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.=)
1g.75761216G>ACA340818044ACADMc.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.=)

Number of alleles fetched