Unique variants in gene ABCA11P

Information The variants shown are described using the NR_002451.2 transcript reference sequence.

149 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 n.303A>G r.(=) p.(=) g.466417T>C Copied from the Exome Variant Server ZNF721_000148 1/13000 1/8594 0/4406
1 n.326T>C r.(=) p.(=) g.466394A>G Copied from the Exome Variant Server ZNF721_000147 4/13006 0/8600 4/4406
1 n.357-17476A>G r.(=) p.(=) g.438238T>C Copied from the Exome Variant Server ZNF721_000146 1/12550 1/8462 0/4088
1 n.357-17434C>T r.(=) p.(=) g.438196G>A Copied from the Exome Variant Server ZNF721_000145 1/12722 0/8516 1/4206
1 n.357-17427C>T r.(?) p.(Pro23Ser) g.438189G>A Copied from the Exome Variant Server ZNF721_000143 12/12720 12/8522 0/4198
1 n.357-17377T>C r.(=) p.(=) g.438139A>G Copied from the Exome Variant Server ZNF721_000141 1/12792 1/8546 0/4246
1 n.357-17323C>T r.(=) p.(=) g.438085G>A Copied from the Exome Variant Server ZNF721_000139 1/12676 0/8512 1/4164
1 n.357-17322G>A r.(?) p.(Val58Met) g.438084C>T Copied from the Exome Variant Server ZNF721_000137 26/12658 24/8510 2/4148
1 n.357-17320G>T r.(=) p.(=) g.438082C>A Copied from the Exome Variant Server ZNF721_000135 2/12644 0/8508 2/4136
1 n.357-17318G>T r.(?) p.(Cys59Phe) g.438080C>A Copied from the Exome Variant Server ZNF721_000133 99/12624 3/8500 96/4124
1 n.357-17311G>A r.(=) p.(=) g.438073C>T Copied from the Exome Variant Server ZNF721_000132 1/12586 0/8498 1/4088
1 n.357-17309A>G r.(?) p.(Gln62Arg) g.438071T>C Copied from the Exome Variant Server ZNF721_000130 7/12562 0/8490 7/4072
1 n.357-17305G>A r.(=) p.(=) g.438067C>T Copied from the Exome Variant Server ZNF721_000128 925/12548 305/8486 620/4062
1 n.357-17303del r.(?) p.(Gly64Glufs*61) g.438065del Copied from the Exome Variant Server ZNF721_000126 144/12032 30/8114 114/3918
1 n.357-17268A>G r.(?) p.(Thr76Ala) g.438030T>C Copied from the Exome Variant Server ZNF721_000124 32/12444 0/8438 32/4006
1 n.357-17248A>G r.(=) p.(=) g.438010T>C Copied from the Exome Variant Server ZNF721_000122 4/12540 4/8464 0/4076
1 n.357-17237G>A r.(?) p.(Arg86His) g.437999C>T Copied from the Exome Variant Server ZNF721_000119 4/12650 0/8512 4/4138
1 n.357-17235G>T r.(?) p.(Val87Phe) g.437997C>A Copied from the Exome Variant Server ZNF721_000117 1/12660 0/8520 1/4140
1 n.357-17226T>G r.(?) p.(Phe90Val) g.437988A>C Copied from the Exome Variant Server ZNF721_000114 2/12678 2/8540 0/4138
1 n.357-17168T>G r.(?) p.(Phe109Cys) g.437930A>C Copied from the Exome Variant Server ZNF721_000111 3/12910 0/8592 3/4318
1 n.357-17157G>A r.(?) p.(Glu113Lys) g.437919C>T Copied from the Exome Variant Server ZNF721_000144 1/12914 0/8588 1/4326
1 n.357-17151G>A r.(?) p.(Gly115Ser) g.437913C>T Copied from the Exome Variant Server ZNF721_000142 1/12924 0/8588 1/4336
1 n.357-17147A>G r.(?) p.(Lys116Arg) g.437909T>C Copied from the Exome Variant Server ZNF721_000140 78/12918 71/8586 7/4332
1 n.357-17110A>G r.(=) p.(=) g.437872T>C Copied from the Exome Variant Server ZNF721_000138 18/12868 0/8564 18/4304
1 n.357-17070C>T r.(?) p.(Arg142Cys) g.437832G>A Copied from the Exome Variant Server ZNF721_000136 2/12818 2/8546 0/4272
1 n.357-17069G>A r.(?) p.(Arg142His) g.437831C>T Copied from the Exome Variant Server ZNF721_000134 1950/12818 828/8544 1122/4274
1 n.357-17067G>A r.(?) p.(Gly143Ser) g.437829C>T Copied from the Exome Variant Server ZNF721_000131 1/12822 1/8542 0/4280
1 n.357-17041C>T r.(=) p.(=) g.437803G>A Copied from the Exome Variant Server ZNF721_000129 1/12820 0/8552 1/4268
1 n.357-17040C>G r.(?) p.(Leu152Val) g.437802G>C Copied from the Exome Variant Server ZNF721_000127 1/12810 0/8550 1/4260
1 n.357-16999C>G r.(?) p.(Tyr165*) g.437761G>C Copied from the Exome Variant Server ZNF721_000125 1/12850 1/8552 0/4298
1 n.357-16958A>C r.(?) p.(Asn179Thr) g.437720T>G Copied from the Exome Variant Server ZNF721_000123 197/12764 2/8504 195/4260
1 n.357-16956C>T r.(?) p.(Leu180Phe) g.437718G>A Copied from the Exome Variant Server ZNF721_000121 2/12762 0/8506 2/4256
1 n.357-16931A>C r.(?) p.(Asn188Thr) g.437693T>G Copied from the Exome Variant Server ZNF721_000118 1/12694 1/8500 0/4194
1 n.357-16865A>C r.(?) p.(Glu210Ala) g.437627T>G Copied from the Exome Variant Server ZNF721_000115 2/12524 2/8436 0/4088
1 n.357-16849T>C r.(=) p.(=) g.437611A>G Copied from the Exome Variant Server ZNF721_000113 1/12564 1/8450 0/4114
1 n.357-16840T>G r.(?) p.(Asp218Glu) g.437602A>C Copied from the Exome Variant Server ZNF721_000110 4/12640 3/8488 1/4152
1 n.357-16835C>T r.(?) p.(Pro220Leu) g.437597G>A Copied from the Exome Variant Server ZNF721_000108 1/12656 0/8492 1/4164
1 n.357-16800C>T r.(?) p.(His232Tyr) g.437562G>A Copied from the Exome Variant Server ZNF721_000106 2/12758 2/8528 0/4230
1 n.357-16770del r.(?) p.(Ile242Phefs*39) g.437532del Copied from the Exome Variant Server ZNF721_000104 9/12236 1/8148 8/4088
1 n.357-16758G>A r.(?) p.(Glu246Lys) g.437520C>T Copied from the Exome Variant Server ZNF721_000102 1/12772 1/8508 0/4264
1 n.357-16719T>A r.(?) p.(Ser259Thr) g.437481A>T Copied from the Exome Variant Server ZNF721_000100 1/12728 1/8502 0/4226
1 n.357-16707A>G r.(?) p.(Ser263Gly) g.437469T>C Copied from the Exome Variant Server ZNF721_000098 6/12678 0/8496 6/4182
1 n.357-16675C>T r.(=) p.(=) g.437437G>A Copied from the Exome Variant Server ZNF721_000096 1/12616 0/8474 1/4142
1 n.357-16674G>A r.(?) p.(Glu274Lys) g.437436C>T Copied from the Exome Variant Server ZNF721_000094 2/12596 2/8464 0/4132
1 n.357-16659T>C r.(?) p.(Cys279Arg) g.437421A>G Copied from the Exome Variant Server ZNF721_000092 3/12576 0/8458 3/4118
1 n.357-16648T>C r.(=) p.(=) g.437410A>G Copied from the Exome Variant Server ZNF721_000120 1/12610 0/8474 1/4136
1 n.357-16639C>T r.(=) p.(=) g.437401G>A Copied from the Exome Variant Server ZNF721_000116 1/12600 1/8476 0/4124
1 n.357-16568T>A r.(?) p.(Val309Glu) g.437330A>T Copied from the Exome Variant Server ZNF721_000112 4/12646 1/8472 3/4174
1 n.357-16556C>G r.(?) p.(Ala313Gly) g.437318G>C Copied from the Exome Variant Server ZNF721_000109 1/12646 0/8476 1/4170
1 n.357-16543C>T r.(=) p.(=) g.437305G>A Copied from the Exome Variant Server ZNF721_000107 4/12672 4/8486 0/4186
1 n.357-16522_357-16520del r.(?) p.(Arg325del) g.437282_437284del Copied from the Exome Variant Server ZNF721_000105 2/12218 0/8136 2/4082
1 n.357-16492A>G r.(=) p.(=) g.437254T>C Copied from the Exome Variant Server ZNF721_000103 1/12790 1/8522 0/4268
1 n.357-16482T>C r.(?) p.(Cys338Arg) g.437244A>G Copied from the Exome Variant Server ZNF721_000101 1/12802 1/8526 0/4276
1 n.357-16462G>A r.(=) p.(=) g.437224C>T Copied from the Exome Variant Server ZNF721_000099 7/12836 0/8536 7/4300
1 n.357-16459C>T r.(=) p.(=) g.437221G>A Copied from the Exome Variant Server ZNF721_000097 408/12834 313/8534 95/4300
1 n.357-16444A>G r.(=) p.(=) g.437206T>C Copied from the Exome Variant Server ZNF721_000095 1/12846 1/8552 0/4294
1 n.357-16439G>A r.(?) p.(Arg352Lys) g.437201C>T Copied from the Exome Variant Server ZNF721_000093 1/12854 1/8558 0/4296
1 n.357-16424G>A r.(?) p.(Gly357Glu) g.437186C>T Copied from the Exome Variant Server ZNF721_000091 2/12872 0/8560 2/4312
1 n.357-16405C>T r.(=) p.(=) g.437167G>A Copied from the Exome Variant Server ZNF721_000090 4/12868 1/8556 3/4312
1 n.357-16404G>A r.(?) p.(Glu364Lys) g.437166C>T Copied from the Exome Variant Server ZNF721_000089 10/12866 7/8554 3/4312
1 n.357-16399C>G r.(?) p.(Asp365Glu) g.437161G>C Copied from the Exome Variant Server ZNF721_000088 1/12874 0/8562 1/4312
1 n.357-16380C>T r.(?) p.(Arg372Trp) g.437142G>A Copied from the Exome Variant Server ZNF721_000087 1/12848 1/8562 0/4286
1 n.357-16376A>G r.(?) p.(Tyr373Cys) g.437138T>C Copied from the Exome Variant Server ZNF721_000086 1/12846 1/8562 0/4284
1 n.357-16331C>G r.(?) p.(Pro388Arg) g.437093G>C Copied from the Exome Variant Server ZNF721_000085 1/12814 1/8542 0/4272
1 n.357-16319A>G r.(?) p.(Glu392Gly) g.437081T>C Copied from the Exome Variant Server ZNF721_000084 3/12796 3/8534 0/4262
1 n.357-16315G>A r.(=) p.(=) g.437077C>T Copied from the Exome Variant Server ZNF721_000083 14/12798 2/8530 12/4268
1 n.357-16280C>G r.(?) p.(Thr405Ser) g.437042G>C Copied from the Exome Variant Server ZNF721_000082 1/12708 1/8510 0/4198
1 n.357-16257A>T r.(?) p.(Arg413*) g.437019T>A Copied from the Exome Variant Server ZNF721_000081 1/12644 0/8492 1/4152
1 n.357-16230C>T r.(?) p.(Arg422Cys) g.436992G>A Copied from the Exome Variant Server ZNF721_000080 4/12548 4/8448 0/4100
1 n.357-16229G>A r.(?) p.(Arg422His) g.436991C>T Copied from the Exome Variant Server ZNF721_000079 1/12538 1/8440 0/4098
1 n.357-16221G>T r.(?) p.(Ala425Ser) g.436983C>A Copied from the Exome Variant Server ZNF721_000078 1/12534 1/8434 0/4100
1 n.357-16179C>A r.(?) p.(His439Asn) g.436941G>T Copied from the Exome Variant Server ZNF721_000077 19/12410 18/8402 1/4008
1 n.357-16168T>G r.(?) p.(Asp442Glu) g.436930A>C Copied from the Exome Variant Server ZNF721_000076 3/12470 2/8420 1/4050
1 n.357-16146del r.(?) p.(Cys450Valfs*11) g.436908del Copied from the Exome Variant Server ZNF721_000075 2/12006 2/8070 0/3936
1 n.357-16107C>G r.(?) p.(His463Asp) g.436869G>C Copied from the Exome Variant Server ZNF721_000074 1/12544 1/8436 0/4108
1 n.357-16094A>G r.(?) p.(His467Arg) g.436856T>C Copied from the Exome Variant Server ZNF721_000073 4/12572 0/8458 4/4114
1 n.357-16086A>G r.(?) p.(Lys470Glu) g.436848T>C Copied from the Exome Variant Server ZNF721_000072 6/12574 6/8462 0/4112
1 n.357-16039_357-16037del r.(?) p.(Ser487del) g.436799_436801del Copied from the Exome Variant Server ZNF721_000070 3/12088 1/8110 2/3978
1 n.357-16003C>T r.(=) p.(=) g.436765G>A Copied from the Exome Variant Server ZNF721_000068 1/12664 1/8494 0/4170
1 n.357-16002G>A r.(?) p.(Glu498Lys) g.436764C>T Copied from the Exome Variant Server ZNF721_000066 1/12662 1/8490 0/4172
1 n.357-15967G>A r.(=) p.(=) g.436729C>T Copied from the Exome Variant Server ZNF721_000064 3/12658 3/8478 0/4180
1 n.357-15935G>C r.(?) p.(Arg520Thr) g.436697C>G Copied from the Exome Variant Server ZNF721_000062 1/12664 0/8490 1/4174
1 n.357-15923C>T r.(?) p.(Thr524Ile) g.436685G>A Copied from the Exome Variant Server ZNF721_000060 2/12692 2/8492 0/4200
1 n.357-15858G>A r.(?) p.(Val546Ile) g.436620C>T Copied from the Exome Variant Server ZNF721_000058 1/12730 1/8518 0/4212
1 n.357-15850G>C r.(?) p.(Arg548Ser) g.436612C>G Copied from the Exome Variant Server ZNF721_000056 1/12722 1/8510 0/4212
1 n.357-15850_357-15848del r.(?) p.(Arg549del) g.436610_436612del Copied from the Exome Variant Server ZNF721_000054 2/12200 0/8144 2/4056
1 n.357-15839C>G r.(?) p.(Thr552Ser) g.436601G>C Copied from the Exome Variant Server ZNF721_000052 1/12732 0/8518 1/4214
1 n.357-15829A>G r.(=) p.(=) g.436591T>C Copied from the Exome Variant Server ABCA11P_000001 1/12772 0/8528 1/4244
1 n.357-15787C>T r.(=) p.(=) g.436549G>A Copied from the Exome Variant Server ZNF721_000049 1/12760 0/8498 1/4262
1 n.357-15775T>C r.(=) p.(=) g.436537A>G Copied from the Exome Variant Server ZNF721_000048 2/12758 0/8510 2/4248
1 n.357-15772A>G r.(=) p.(=) g.436534T>C Copied from the Exome Variant Server ZNF721_000045 8/12766 8/8512 0/4254
1 n.357-15754T>C r.(=) p.(=) g.436516A>G Copied from the Exome Variant Server ZNF721_000043 1/12782 0/8512 1/4270
1 n.357-15751A>G r.(=) p.(=) g.436513T>C Copied from the Exome Variant Server ZNF721_000040 1/12788 0/8512 1/4276
1 n.357-15740A>G r.(?) p.(Tyr585Cys) g.436502T>C Copied from the Exome Variant Server ZNF721_000037 1/12782 1/8510 0/4272
1 n.357-15713T>C r.(?) p.(Phe594Ser) g.436475A>G Copied from the Exome Variant Server ZNF721_000034 1/12754 0/8498 1/4256
1 n.357-15683A>G r.(?) p.(Lys604Arg) g.436445T>C Copied from the Exome Variant Server ZNF721_000071 1/12588 0/8452 1/4136
1 n.357-15675del r.(?) p.(His607Ilefs*22) g.436437del Copied from the Exome Variant Server ZNF721_000069 2/12060 2/8094 0/3966
1 n.357-15622G>A r.(?) p.(Trp624*) g.436384C>T Copied from the Exome Variant Server ZNF721_000067 1/12496 1/8428 0/4068
1 n.357-15586T>C r.(=) p.(=) g.436348A>G Copied from the Exome Variant Server ZNF721_000065 2/12396 0/8378 2/4018
1 n.357-15577A>G r.(=) p.(=) g.436339T>C Copied from the Exome Variant Server ZNF721_000063 1/12418 1/8388 0/4030
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