Full data view for gene ACOX2

Information The variants shown are described using the NM_003500.3 transcript reference sequence.

162 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-52G>C r.(=) p.(=) g.58520885C>G Copied from the Exome Variant Server ACOX2_000162 9/7272 0/4618 9/2654 - - - - - - -
?/? c.-47C>T r.(=) p.(=) g.58520880G>A Copied from the Exome Variant Server ACOX2_000161 5/13006 5/8600 0/4406 - - - - - - -
?/? c.-46G>A r.(=) p.(=) g.58520879C>T Copied from the Exome Variant Server ACOX2_000160 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-26T>C r.(=) p.(=) g.58520859A>G Copied from the Exome Variant Server ACOX2_000159 10929/13006 8029/8600 2900/4406 - - - - - - -
?/? c.6C>A r.(=) p.(=) g.58520828G>T Copied from the Exome Variant Server ACOX2_000158 2/13006 0/8600 2/4406 - - - - - - -
?/? c.28T>C r.(=) p.(=) g.58520806A>G Copied from the Exome Variant Server ACOX2_000157 17/13006 15/8600 2/4406 - - - - - - -
?/? c.45C>T r.(=) p.(=) g.58520789G>A Copied from the Exome Variant Server ACOX2_000156 1/13006 0/8600 1/4406 - - - - - - -
?/? c.64A>G r.(?) p.(Ile22Val) g.58520770T>C Copied from the Exome Variant Server ACOX2_000155 1/13006 1/8600 0/4406 - - - - - - -
?/? c.72C>T r.(=) p.(=) g.58520762G>A Copied from the Exome Variant Server ACOX2_000154 1/13006 1/8600 0/4406 - - - - - - -
?/? c.97G>A r.(?) p.(Val33Met) g.58520737C>T Copied from the Exome Variant Server ACOX2_000153 27/13006 0/8600 27/4406 - - - - - - -
?/? c.103C>T r.(?) p.(Arg35Trp) g.58520731G>A Copied from the Exome Variant Server ACOX2_000152 10/13006 8/8600 2/4406 - - - - - - -
?/? c.104G>A r.(?) p.(Arg35Gln) g.58520730C>T Copied from the Exome Variant Server ACOX2_000151 8/13006 0/8600 8/4406 - - - - - - -
?/? c.148C>T r.(?) p.(Arg50Cys) g.58520686G>A Copied from the Exome Variant Server ACOX2_000150 1/13006 0/8600 1/4406 - - - - - - -
?/? c.160+5G>A r.spl? p.? g.58520669C>T Copied from the Exome Variant Server ACOX2_000149 3/13006 3/8600 0/4406 - - - - - - -
?/? c.161-47G>C r.(=) p.(=) g.58520296C>G Copied from the Exome Variant Server ACOX2_000148 115/13006 1/8600 114/4406 - - - - - - -
?/? c.161-42C>G r.(=) p.(=) g.58520291G>C Copied from the Exome Variant Server ACOX2_000147 3/13006 0/8600 3/4406 - - - - - - -
?/? c.161-4G>A r.spl? p.? g.58520253C>T Copied from the Exome Variant Server ACOX2_000146 1/13006 0/8600 1/4406 - - - - - - -
?/? c.172C>A r.(?) p.(His58Asn) g.58520238G>T Copied from the Exome Variant Server ACOX2_000145 3/13006 3/8600 0/4406 - - - - - - -
?/? c.182C>T r.(?) p.(Pro61Leu) g.58520228G>A Copied from the Exome Variant Server ACOX2_000144 14/13006 0/8600 14/4406 - - - - - - -
?/? c.183G>A r.(=) p.(=) g.58520227C>T Copied from the Exome Variant Server ACOX2_000143 1/13006 0/8600 1/4406 - - - - - - -
?/? c.226C>A r.(?) p.(Arg76Ser) g.58520184G>T Copied from the Exome Variant Server ACOX2_000142 1/13006 1/8600 0/4406 - - - - - - -
?/? c.227G>A r.(?) p.(Arg76His) g.58520183C>T Copied from the Exome Variant Server ACOX2_000141 1/13006 0/8600 1/4406 - - - - - - -
?/? c.230A>G r.(?) p.(Tyr77Cys) g.58520180T>C Copied from the Exome Variant Server ACOX2_000140 1/13006 0/8600 1/4406 - - - - - - -
?/? c.245G>A r.(?) p.(Arg82Gln) g.58520165C>T Copied from the Exome Variant Server ACOX2_000139 2/13006 0/8600 2/4406 - - - - - - -
?/? c.248G>A r.(?) p.(Arg83Lys) g.58520162C>T Copied from the Exome Variant Server ACOX2_000138 1/13006 1/8600 0/4406 - - - - - - -
?/? c.263G>T r.(?) p.(Arg88Leu) g.58520147C>A Copied from the Exome Variant Server ACOX2_000137 1/13006 0/8600 1/4406 - - - - - - -
?/? c.269T>A r.(?) p.(Ile90Lys) g.58520141A>T Copied from the Exome Variant Server ACOX2_000135 2/13006 0/8600 2/4406 - - - - - - -
?/? c.275G>A r.(?) p.(Arg92Gln) g.58520135C>T Copied from the Exome Variant Server ACOX2_000133 2/13006 2/8600 0/4406 - - - - - - -
?/? c.277C>T r.(?) p.(Arg93Cys) g.58520133G>A Copied from the Exome Variant Server ACOX2_000131 1/13006 0/8600 1/4406 - - - - - - -
?/? c.278G>A r.(?) p.(Arg93His) g.58520132C>T Copied from the Exome Variant Server ACOX2_000129 3/13006 3/8600 0/4406 - - - - - - -
?/? c.315C>T r.(=) p.(=) g.58520095G>A Copied from the Exome Variant Server ACOX2_000127 2/13006 0/8600 2/4406 - - - - - - -
?/? c.317C>T r.(?) p.(Ala106Val) g.58520093G>A Copied from the Exome Variant Server ACOX2_000125 1/13006 1/8600 0/4406 - - - - - - -
?/? c.323+2_323+3insAGGT r.spl? p.? g.58520084_58520085insACCT Copied from the Exome Variant Server ACOX2_000123 1/12520 0/8254 1/4266 - - - - - - -
?/? c.323+23C>T r.(=) p.(=) g.58520064G>A Copied from the Exome Variant Server ACOX2_000120 1/13006 1/8600 0/4406 - - - - - - -
?/? c.323+51_323+52insCACC r.(=) p.(=) g.58520035_58520036insGGTG Copied from the Exome Variant Server ACOX2_000118 1/12520 0/8254 1/4266 - - - - - - -
?/? c.324-15A>C r.(=) p.(=) g.58519887T>G Copied from the Exome Variant Server ACOX2_000116 166/13006 2/8600 164/4406 - - - - - - -
?/? c.324-4A>G r.spl? p.? g.58519876T>C Copied from the Exome Variant Server ACOX2_000136 3/13006 1/8600 2/4406 - - - - - - -
?/? c.339C>T r.(=) p.(=) g.58519857G>A Copied from the Exome Variant Server ACOX2_000134 5/13006 2/8600 3/4406 - - - - - - -
?/? c.353T>C r.(?) p.(Ile118Thr) g.58519843A>G Copied from the Exome Variant Server ACOX2_000132 1/13006 0/8600 1/4406 - - - - - - -
?/? c.420A>C r.(=) p.(=) g.58519776T>G Copied from the Exome Variant Server ACOX2_000130 2/13006 0/8600 2/4406 - - - - - - -
?/? c.432C>T r.(=) p.(=) g.58519764G>A Copied from the Exome Variant Server ACOX2_000128 1/13006 1/8600 0/4406 - - - - - - -
?/? c.436C>T r.(?) p.(Gln146*) g.58519760G>A Copied from the Exome Variant Server ACOX2_000126 1/13006 1/8600 0/4406 - - - - - - -
?/? c.445G>A r.(?) p.(Ala149Thr) g.58519751C>T Copied from the Exome Variant Server ACOX2_000124 3/13006 3/8600 0/4406 - - - - - - -
?/? c.449C>T r.(?) p.(Thr150Met) g.58519747G>A Copied from the Exome Variant Server ACOX2_000122 2/13006 2/8600 0/4406 - - - - - - -
?/? c.452A>T r.(?) p.(Tyr151Phe) g.58519744T>A Copied from the Exome Variant Server ACOX2_000121 1/13006 1/8600 0/4406 - - - - - - -
?/? c.461_464del r.(?) p.(Thr154Serfs*25) g.58519732_58519735del Copied from the Exome Variant Server ACOX2_000119 46/12520 28/8254 18/4266 - - - - - - -
?/? c.475+18C>T r.(=) p.(=) g.58519703G>A Copied from the Exome Variant Server ACOX2_000117 103/13006 5/8600 98/4406 - - - - - - -
?/? c.475+21G>C r.(=) p.(=) g.58519700C>G Copied from the Exome Variant Server ACOX2_000115 1/13006 1/8600 0/4406 - - - - - - -
?/? c.475+42G>A r.(=) p.(=) g.58519679C>T Copied from the Exome Variant Server ACOX2_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.476-26G>C r.(=) p.(=) g.58519305C>G Copied from the Exome Variant Server ACOX2_000113 30/13006 28/8600 2/4406 - - - - - - -
?/? c.481T>C r.(?) p.(Tyr161His) g.58519274A>G Copied from the Exome Variant Server ACOX2_000112 2/13006 0/8600 2/4406 - - - - - - -
?/? c.484C>T r.(?) p.(Leu162Phe) g.58519271G>A Copied from the Exome Variant Server ACOX2_000111 1/13006 1/8600 0/4406 - - - - - - -
?/? c.517G>A r.(?) p.(Ala173Thr) g.58519238C>T Copied from the Exome Variant Server ACOX2_000110 1/13006 0/8600 1/4406 - - - - - - -
?/? c.529del r.(?) p.(Glu177Serfs*3) g.58519226del Copied from the Exome Variant Server ACOX2_000109 1/12520 1/8254 0/4266 - - - - - - -
?/? c.544A>G r.(?) p.(Ser182Gly) g.58519211T>C Copied from the Exome Variant Server ACOX2_000108 1/13006 1/8600 0/4406 - - - - - - -
?/? c.551C>G r.(?) p.(Thr184Arg) g.58519204G>C Copied from the Exome Variant Server ACOX2_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.583+19C>G r.(=) p.(=) g.58519153G>C Copied from the Exome Variant Server ACOX2_000106 50/13006 1/8600 49/4406 - - - - - - -
?/? c.583+50G>A r.(=) p.(=) g.58519122C>T Copied from the Exome Variant Server ACOX2_000105 1/13006 1/8600 0/4406 - - - - - - -
?/? c.584-48C>T r.(=) p.(=) g.58517587G>A Copied from the Exome Variant Server ACOX2_000104 1/13006 0/8600 1/4406 - - - - - - -
?/? c.584-21C>T r.(=) p.(=) g.58517560G>A Copied from the Exome Variant Server ACOX2_000103 1/13006 1/8600 0/4406 - - - - - - -
?/? c.589C>T r.(?) p.(Arg197Trp) g.58517534G>A Copied from the Exome Variant Server ACOX2_000102 7/13006 7/8600 0/4406 - - - - - - -
?/? c.594A>G r.(=) p.(=) g.58517529T>C Copied from the Exome Variant Server ACOX2_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.603T>C r.(=) p.(=) g.58517520A>G Copied from the Exome Variant Server ACOX2_000100 1068/13006 184/8600 884/4406 - - - - - - -
?/? c.632C>T r.(?) p.(Ser211Leu) g.58517491G>A Copied from the Exome Variant Server ACOX2_000099 5/13006 5/8600 0/4406 - - - - - - -
?/? c.643C>T r.(?) p.(Arg215Trp) g.58517480G>A Copied from the Exome Variant Server ACOX2_000098 7/13006 7/8600 0/4406 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.58517469G>A Copied from the Exome Variant Server ACOX2_000097 6/13006 6/8600 0/4406 - - - - - - -
?/? c.673C>T r.(?) p.(Arg225Trp) g.58517450G>A Copied from the Exome Variant Server ACOX2_000096 2/13006 2/8600 0/4406 - - - - - - -
?/? c.703+46C>T r.(=) p.(=) g.58517374G>A Copied from the Exome Variant Server ACOX2_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.704-24G>A r.(=) p.(=) g.58517117C>T Copied from the Exome Variant Server ACOX2_000094 15/13006 12/8600 3/4406 - - - - - - -
?/? c.713T>C r.(?) p.(Ile238Thr) g.58517084A>G Copied from the Exome Variant Server ACOX2_000093 102/13006 1/8600 101/4406 - - - - - - -
?/? c.730A>C r.(?) p.(Lys244Gln) g.58517067T>G Copied from the Exome Variant Server ACOX2_000092 2/13006 0/8600 2/4406 - - - - - - -
?/? c.781C>T r.(?) p.(Arg261Trp) g.58517016G>A Copied from the Exome Variant Server ACOX2_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.782G>A r.(?) p.(Arg261Gln) g.58517015C>T Copied from the Exome Variant Server ACOX2_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.819+21G>A r.(=) p.(=) g.58516957C>T Copied from the Exome Variant Server ACOX2_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.819+37_819+38insCT r.(=) p.(=) g.58516940_58516941insAG Copied from the Exome Variant Server ACOX2_000088 16/12520 0/8254 16/4266 - - - - - - -
?/? c.820-18C>T r.(=) p.(=) g.58516383G>A Copied from the Exome Variant Server ACOX2_000087 4301/13006 3897/8600 404/4406 - - - - - - -
?/? c.820-17G>A r.(=) p.(=) g.58516382C>T Copied from the Exome Variant Server ACOX2_000086 2/13006 0/8600 2/4406 - - - - - - -
?/? c.836C>A r.(?) p.(Thr279Asn) g.58516349G>T Copied from the Exome Variant Server ACOX2_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.840C>T r.(=) p.(=) g.58516345G>A Copied from the Exome Variant Server ACOX2_000084 5/13006 5/8600 0/4406 - - - - - - -
?/? c.841G>A r.(?) p.(Val281Ile) g.58516344C>T Copied from the Exome Variant Server ACOX2_000082 2/13006 2/8600 0/4406 - - - - - - -
?/? c.850G>A r.(?) p.(Gly284Ser) g.58516335C>T Copied from the Exome Variant Server ACOX2_000080 18/13006 0/8600 18/4406 - - - - - - -
?/? c.854C>T r.(?) p.(Thr285Ile) g.58516331G>A Copied from the Exome Variant Server ACOX2_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.878T>C r.(?) p.(Met293Thr) g.58516307A>G Copied from the Exome Variant Server ACOX2_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.886G>A r.(?) p.(Val296Met) g.58516299C>T Copied from the Exome Variant Server ACOX2_000074 2/13006 0/8600 2/4406 - - - - - - -
?/? c.890G>A r.(?) p.(Arg297Gln) g.58516295C>T Copied from the Exome Variant Server ACOX2_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.933G>A r.(=) p.(=) g.58516252C>T Copied from the Exome Variant Server ACOX2_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.946G>A r.(?) p.(Ala316Thr) g.58516239C>T Copied from the Exome Variant Server ACOX2_000083 15/13006 1/8600 14/4406 - - - - - - -
?/? c.953G>C r.(?) p.(Arg318Pro) g.58516232C>G Copied from the Exome Variant Server ACOX2_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.979C>T r.(?) p.(Arg327Trp) g.58516206G>A Copied from the Exome Variant Server ACOX2_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.992+13C>T r.(=) p.(=) g.58516180G>A Copied from the Exome Variant Server ACOX2_000077 168/13006 153/8600 15/4406 - - - - - - -
?/? c.992+20T>C r.(=) p.(=) g.58516173A>G Copied from the Exome Variant Server ACOX2_000075 4/13006 3/8600 1/4406 - - - - - - -
?/? c.992+27C>T r.(=) p.(=) g.58516166G>A Copied from the Exome Variant Server ACOX2_000073 95/13006 2/8600 93/4406 - - - - - - -
?/? c.992+28G>A r.(=) p.(=) g.58516165C>T Copied from the Exome Variant Server ACOX2_000071 25/13006 1/8600 24/4406 - - - - - - -
?/? c.992+38T>A r.(=) p.(=) g.58516155A>T Copied from the Exome Variant Server ACOX2_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.992+41C>G r.(=) p.(=) g.58516152G>C Copied from the Exome Variant Server ACOX2_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1053G>A r.(=) p.(=) g.58514623C>T Copied from the Exome Variant Server ACOX2_000067 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1090C>G r.(?) p.(Leu364Val) g.58514586G>C Copied from the Exome Variant Server ACOX2_000066 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1103T>G r.(?) p.(Phe368Cys) g.58514573A>C Copied from the Exome Variant Server ACOX2_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1122C>G r.(=) p.(=) g.58514554G>C Copied from the Exome Variant Server ACOX2_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1155+15C>T r.(=) p.(=) g.58514506G>A Copied from the Exome Variant Server ACOX2_000063 6/13006 0/8600 6/4406 - - - - - - -
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