Unique variants in gene ABCD4

Information The variants shown are described using the NM_005050.3 transcript reference sequence.

194 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.5C>T r.(?) p.(Ala2Val) g.74769611G>A Copied from the Exome Variant Server ABCD4_000194 2/12980 0/8590 2/4390
1 c.10G>C r.(?) p.(Ala4Pro) g.74769606C>G Copied from the Exome Variant Server ABCD4_000193 91/12972 0/8580 91/4392
1 c.23C>T r.(?) p.(Pro8Leu) g.74769593G>A Copied from the Exome Variant Server ABCD4_000192 1/12978 1/8584 0/4394
1 c.24C>G r.(=) p.(=) g.74769592G>C Copied from the Exome Variant Server ABCD4_000191 1/12980 1/8584 0/4396
1 c.28G>T r.(?) p.(Ala10Ser) g.74769588C>A Copied from the Exome Variant Server ABCD4_000190 1/12988 1/8588 0/4400
1 c.33C>T r.(=) p.(=) g.74769583G>A Copied from the Exome Variant Server ABCD4_000189 2/12990 0/8592 2/4398
1 c.67C>T r.(?) p.(Arg23Trp) g.74766943G>A Copied from the Exome Variant Server ABCD4_000188 1/13006 0/8600 1/4406
1 c.70T>C r.(?) p.(Phe24Leu) g.74766940A>G Copied from the Exome Variant Server ABCD4_000187 1/13006 0/8600 1/4406
1 c.136C>T r.(?) p.(Leu46Phe) g.74766874G>A Copied from the Exome Variant Server ABCD4_000186 1/13006 1/8600 0/4406
1 c.141G>C r.(?) p.(Leu47Phe) g.74766869C>G Copied from the Exome Variant Server ABCD4_000185 7/13006 7/8600 0/4406
1 c.157+30_157+31insG r.(=) p.(=) g.74766822_74766823insC Copied from the Exome Variant Server ABCD4_000183 1/12518 0/8254 1/4264
1 c.176A>G r.(?) p.(Gln59Arg) g.74766360T>C Copied from the Exome Variant Server ABCD4_000181 981/13006 3/8600 978/4406
1 c.184T>C r.(=) p.(=) g.74766352A>G Copied from the Exome Variant Server ABCD4_000180 3889/13006 3123/8600 766/4406
1 c.195T>C r.(=) p.(=) g.74766341A>G Copied from the Exome Variant Server ABCD4_000178 128/13006 3/8600 125/4406
1 c.204T>C r.(=) p.(=) g.74766332A>G Copied from the Exome Variant Server ABCD4_000184 1/13006 1/8600 0/4406
1 c.215G>T r.(?) p.(Gly72Val) g.74766321C>A Copied from the Exome Variant Server ABCD4_000182 1/13006 0/8600 1/4406
1 c.285+19T>C r.(=) p.(=) g.74766232A>G Copied from the Exome Variant Server ABCD4_000179 1/13006 1/8600 0/4406
1 c.286-35A>G r.(=) p.(=) g.74764807T>C Copied from the Exome Variant Server ABCD4_000177 1/13006 1/8600 0/4406
1 c.286-10del r.(=) p.(=) g.74764782del Copied from the Exome Variant Server ABCD4_000176 1/12516 0/8254 1/4262
1 c.352C>T r.(?) p.(His118Tyr) g.74764706G>A Copied from the Exome Variant Server ABCD4_000175 1/13006 1/8600 0/4406
1 c.364C>T r.(?) p.(Leu122Phe) g.74764694G>A Copied from the Exome Variant Server ABCD4_000174 1/13006 0/8600 1/4406
1 c.374G>A r.(?) p.(Arg125Gln) g.74764684C>T Copied from the Exome Variant Server ABCD4_000173 3/13006 3/8600 0/4406
1 c.380G>A r.(?) p.(Arg127His) g.74764678C>T Copied from the Exome Variant Server ABCD4_000172 1/13006 1/8600 0/4406
1 c.383C>T r.(?) p.(Ala128Val) g.74764675G>A Copied from the Exome Variant Server ABCD4_000171 971/13006 3/8600 968/4406
1 c.384G>A r.(=) p.(=) g.74764674C>T Copied from the Exome Variant Server ABCD4_000170 2/13006 0/8600 2/4406
1 c.399C>T r.(=) p.(=) g.74764659G>A Copied from the Exome Variant Server ABCD4_000169 1/13006 1/8600 0/4406
1 c.406C>T r.(?) p.(Arg136Trp) g.74764652G>A Copied from the Exome Variant Server ABCD4_000168 5/13006 0/8600 5/4406
1 c.425+6C>T r.(=) p.(=) g.74764627G>A Copied from the Exome Variant Server ABCD4_000167 2/13006 0/8600 2/4406
1 c.425+7G>A r.(=) p.(=) g.74764626C>T Copied from the Exome Variant Server ABCD4_000166 1/13006 1/8600 0/4406
1 c.425+13A>G r.(=) p.(=) g.74764620T>C Copied from the Exome Variant Server ABCD4_000165 5/13006 5/8600 0/4406
1 c.425+41C>T r.(=) p.(=) g.74764592G>A Copied from the Exome Variant Server ABCD4_000164 1/13006 1/8600 0/4406
1 c.425+48T>A r.(=) p.(=) g.74764585A>T Copied from the Exome Variant Server ABCD4_000163 971/13006 3/8600 968/4406
1 c.426-29G>C r.(=) p.(=) g.74763181C>G Copied from the Exome Variant Server ABCD4_000162 2/13006 2/8600 0/4406
1 c.433C>T r.(?) p.(Arg145Cys) g.74763145G>A Copied from the Exome Variant Server ABCD4_000161 1/13006 1/8600 0/4406
1 c.434G>A r.(?) p.(Arg145His) g.74763144C>T Copied from the Exome Variant Server ABCD4_000160 1/13006 0/8600 1/4406
1 c.447C>T r.(=) p.(=) g.74763131G>A Copied from the Exome Variant Server ABCD4_000159 2/13006 2/8600 0/4406
1 c.455G>A r.(?) p.(Arg152Gln) g.74763123C>T Copied from the Exome Variant Server ABCD4_000158 1/13006 0/8600 1/4406
1 c.463C>T r.(?) p.(Arg155Trp) g.74763115G>A Copied from the Exome Variant Server ABCD4_000157 1/13006 1/8600 0/4406
1 c.486C>T r.(=) p.(=) g.74763092G>A Copied from the Exome Variant Server ABCD4_000156 1/13006 1/8600 0/4406
1 c.492C>G r.(=) p.(=) g.74763086G>C Copied from the Exome Variant Server ABCD4_000155 972/13006 3/8600 969/4406
1 c.497T>C r.(?) p.(Ile166Thr) g.74763081A>G Copied from the Exome Variant Server ABCD4_000154 3/13006 0/8600 3/4406
1 c.511C>T r.(?) p.(Leu171Phe) g.74763067G>A Copied from the Exome Variant Server ABCD4_000153 2/13006 0/8600 2/4406
1 c.514G>A r.(?) p.(Val172Ile) g.74763064C>T Copied from the Exome Variant Server ABCD4_000152 972/13006 3/8600 969/4406
1 c.528C>T r.(=) p.(=) g.74763050G>A Copied from the Exome Variant Server ABCD4_000151 1/13006 0/8600 1/4406
1 c.542+29G>A r.(=) p.(=) g.74763007C>T Copied from the Exome Variant Server ABCD4_000150 1/13006 0/8600 1/4406
1 c.542+38G>C r.(=) p.(=) g.74762998C>G Copied from the Exome Variant Server ABCD4_000149 1/13006 0/8600 1/4406
1 c.542+41G>A r.(=) p.(=) g.74762995C>T Copied from the Exome Variant Server ABCD4_000148 1/13006 1/8600 0/4406
1 c.542+42G>T r.(=) p.(=) g.74762994C>A Copied from the Exome Variant Server ABCD4_000147 108/13006 0/8600 108/4406
1 c.543-43C>T r.(=) p.(=) g.74762725G>A Copied from the Exome Variant Server ABCD4_000146 1/13006 1/8600 0/4406
1 c.543-27C>G r.(=) p.(=) g.74762709G>C Copied from the Exome Variant Server ABCD4_000145 1/13004 0/8600 1/4404
1 c.543-26C>T r.(=) p.(=) g.74762708G>A Copied from the Exome Variant Server ABCD4_000144 2/13006 0/8600 2/4406
1 c.543-22_543-21insTCT r.(=) p.(=) g.74762703_74762704insAGA Copied from the Exome Variant Server ABCD4_000143 934/12516 4/8254 930/4262
1 c.543-14T>C r.(=) p.(=) g.74762696A>G Copied from the Exome Variant Server ABCD4_000142 59/13006 54/8600 5/4406
1 c.555C>T r.(=) p.(=) g.74762670G>A Copied from the Exome Variant Server ABCD4_000141 2/13006 0/8600 2/4406
1 c.565A>G r.(?) p.(Ser189Gly) g.74762660T>C Copied from the Exome Variant Server ABCD4_000140 1/13006 1/8600 0/4406
1 c.595G>A r.(?) p.(Val199Met) g.74762630C>T Copied from the Exome Variant Server ABCD4_000139 1/13006 0/8600 1/4406
1 c.603C>T r.(=) p.(=) g.74762622G>A Copied from the Exome Variant Server ABCD4_000138 2/13006 2/8600 0/4406
1 c.604A>C r.(?) p.(Lys202Gln) g.74762621T>G Copied from the Exome Variant Server ABCD4_000137 1/13006 0/8600 1/4406
1 c.635del r.(?) p.(Leu212Argfs*20) g.74762590del Copied from the Exome Variant Server ABCD4_000136 1/12518 1/8254 0/4264
1 c.668+7C>T r.(=) p.(=) g.74762550G>A Copied from the Exome Variant Server ABCD4_000135 972/13006 3/8600 969/4406
1 c.669-51T>G r.(=) p.(=) g.74761952A>C Copied from the Exome Variant Server ABCD4_000134 38/13006 34/8600 4/4406
1 c.669-24C>T r.(=) p.(=) g.74761925G>A Copied from the Exome Variant Server ABCD4_000133 1/13006 1/8600 0/4406
1 c.669-13T>G r.(=) p.(=) g.74761914A>C Copied from the Exome Variant Server ABCD4_000132 109/13006 0/8600 109/4406
1 c.669-11_669-8del r.(=) p.(=) g.74761909_74761912del Copied from the Exome Variant Server ABCD4_000131 2/12518 2/8254 0/4264
1 c.669-7C>T r.(=) p.(=) g.74761908G>A Copied from the Exome Variant Server ABCD4_000130 1/13006 1/8600 0/4406
1 c.669-6G>T r.(=) p.(=) g.74761907C>A Copied from the Exome Variant Server ABCD4_000129 93/13006 1/8600 92/4406
1 c.699G>A r.(=) p.(=) g.74761871C>T Copied from the Exome Variant Server ABCD4_000128 3/13006 1/8600 2/4406
1 c.719+21C>A r.(=) p.(=) g.74761830G>T Copied from the Exome Variant Server ABCD4_000127 3/13006 3/8600 0/4406
1 c.720-25G>A r.(=) p.(=) g.74759976C>T Copied from the Exome Variant Server ABCD4_000126 1/13006 1/8600 0/4406
1 c.720-14C>G r.(=) p.(=) g.74759965G>C Copied from the Exome Variant Server ABCD4_000125 1/13006 1/8600 0/4406
1 c.739A>T r.(?) p.(Met247Leu) g.74759932T>A Copied from the Exome Variant Server ABCD4_000124 1/13006 1/8600 0/4406
1 c.751C>T r.(?) p.(Arg251Cys) g.74759920G>A Copied from the Exome Variant Server ABCD4_000123 21/13006 18/8600 3/4406
1 c.752G>A r.(?) p.(Arg251His) g.74759919C>T Copied from the Exome Variant Server ABCD4_000122 4/13006 2/8600 2/4406
1 c.775A>T r.(?) p.(Thr259Ser) g.74759896T>A Copied from the Exome Variant Server ABCD4_000121 1/13006 1/8600 0/4406
1 c.814+52T>G r.(=) p.(=) g.74759805A>C Copied from the Exome Variant Server ABCD4_000120 2/10300 2/7164 0/3136
1 c.815-43A>G r.(=) p.(=) g.74759615T>C Copied from the Exome Variant Server ABCD4_000119 3/13006 2/8600 1/4406
1 c.815-27G>A r.(=) p.(=) g.74759599C>T Copied from the Exome Variant Server ABCD4_000118 1/13006 1/8600 0/4406
1 c.815-13G>C r.(=) p.(=) g.74759585C>G Copied from the Exome Variant Server ABCD4_000117 973/13006 3/8600 970/4406
1 c.816C>T r.(=) p.(=) g.74759571G>A Copied from the Exome Variant Server ABCD4_000116 2/13006 2/8600 0/4406
1 c.858C>T r.(=) p.(=) g.74759529G>A Copied from the Exome Variant Server ABCD4_000115 973/13006 3/8600 970/4406
1 c.861T>G r.(=) p.(=) g.74759526A>C Copied from the Exome Variant Server ABCD4_000114 1/13006 0/8600 1/4406
1 c.867C>T r.(=) p.(=) g.74759520G>A Copied from the Exome Variant Server ABCD4_000113 2/13006 2/8600 0/4406
1 c.868G>A r.(?) p.(Ala290Thr) g.74759519C>T Copied from the Exome Variant Server ABCD4_000112 1/13006 1/8600 0/4406
1 c.869C>G r.(?) p.(Ala290Gly) g.74759518G>C Copied from the Exome Variant Server ABCD4_000111 1/13006 0/8600 1/4406
1 c.893A>G r.(?) p.(Tyr298Cys) g.74759494T>C Copied from the Exome Variant Server ABCD4_000110 1/13006 0/8600 1/4406
1 c.910G>A r.(?) p.(Ala304Thr) g.74759477C>T Copied from the Exome Variant Server ABCD4_000108 3999/13006 3129/8600 870/4406
1 c.936+26C>A r.(=) p.(=) g.74759425G>T Copied from the Exome Variant Server ABCD4_000106 1/13006 1/8600 0/4406
1 c.937-20C>T r.(=) p.(=) g.74759365G>A Copied from the Exome Variant Server ABCD4_000104 1/13006 1/8600 0/4406
1 c.956A>G r.(?) p.(Tyr319Cys) g.74759326T>C Copied from the Exome Variant Server ABCD4_000102 1/13006 1/8600 0/4406
1 c.958C>G r.(?) p.(Leu320Val) g.74759324G>C Copied from the Exome Variant Server ABCD4_000109 1/13006 0/8600 1/4406
1 c.981C>A r.(=) p.(=) g.74759301G>T Copied from the Exome Variant Server ABCD4_000107 3892/13006 3127/8600 765/4406
1 c.988C>G r.(?) p.(Leu330Val) g.74759294G>C Copied from the Exome Variant Server ABCD4_000105 1/13006 0/8600 1/4406
1 c.1023G>A r.(=) p.(=) g.74759259C>T Copied from the Exome Variant Server ABCD4_000103 49/13006 1/8600 48/4406
1 c.1028+6G>T r.(=) p.(=) g.74759248C>A Copied from the Exome Variant Server ABCD4_000101 109/13006 0/8600 109/4406
1 c.1028+8C>T r.(=) p.(=) g.74759246G>A Copied from the Exome Variant Server ABCD4_000100 2/13006 2/8600 0/4406
1 c.1028+20del r.(=) p.(=) g.74759234del Copied from the Exome Variant Server ABCD4_000099 2/12518 2/8254 0/4264
1 c.1028+25G>A r.(=) p.(=) g.74759229C>T Copied from the Exome Variant Server ABCD4_000098 1/13006 0/8600 1/4406
1 c.1028+35A>G r.(=) p.(=) g.74759219T>C Copied from the Exome Variant Server ABCD4_000097 1/13006 0/8600 1/4406
1 c.1028+52C>A r.(=) p.(=) g.74759202G>T Copied from the Exome Variant Server ABCD4_000096 689/10300 3/7164 686/3136
1 c.1029-51C>A r.(=) p.(=) g.74759130G>T Copied from the Exome Variant Server ABCD4_000095 12/13006 0/8600 12/4406
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