Gene SymbolOMIMPhenotypeMutationrsIDChromosomePositionRefAltInfo
ACADVL609575VLCAD DEFICIENCYACADVL, IVS5, 1-BP DEL, G, -1rs387906249177220923GGGdbSNP_138;TSA=deletion;CLIN_pathogenic;AA=G
ACADVL609575VLCAD DEFICIENCYACADVL, 135-BP DELrs387906250177220922AGAdbSNP_138;TSA=deletion;CLIN_pathogenic;AA=G
ACADVL609575VLCAD DEFICIENCYACADVL, 3-BP DEL, GLU130DELrs387906251177220968GGAGGdbSNP_138;TSA=deletion;CLIN_pathogenic
ACADVL609575VLCAD DEFICIENCYACADVL, 3-BP DEL, LYS299DELrs387906252177222682GAAGGdbSNP_138;TSA=deletion;CLIN_pathogenic
ACADVL609575VLCAD DEFICIENCYACADVL, PRO65LEU AND LYS247GLNrs28934585177220519CTdbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_1000G;E_ESP;CLIN_benign;MA=T;MAF=0.0307622;MAC=67;AA=C
ACADVL609575VLCAD DEFICIENCYACADVL, PRO65LEU AND LYS247GLNrs387906253177222068ACdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
ACADVL609575VLCAD DEFICIENCYACADVL, ARG613TRPrs118204014177224966CTdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=C
ACADVL609575VLCAD DEFICIENCYACADVL, LYS382GLNrs118204015177223199ACdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
ACADVL609575VLCAD DEFICIENCYACADVL, ARG410HISrs118204016177223984GAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
ACADVL609575VLCAD DEFICIENCYACADVL, ARG450HISrs118204016177223984GAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
ACADVL609575VLCAD DEFICIENCYACADVL, PHE458LEUrs118204017177224007TCdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=T
ACADVL609575VLCAD DEFICIENCYACADVL, ALA416THRrs118204018177223707GAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
ACADVL609575VLCAD DEFICIENCYACADVL, GLY401ASPrs2309689177223865GAdbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_Hapmap;CLIN_pathogenic;AA=G


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