Unique variants in gene ABCB9

Information The variants shown are described using the NM_019624.3 transcript reference sequence.

152 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.-32C>T r.(=) p.(=) g.123444814G>A Copied from the Exome Variant Server ABCB9_000152 1/13000 1/8596 0/4404
1 c.4C>T r.(?) p.(Arg2Trp) g.123444779G>A Copied from the Exome Variant Server ABCB9_000151 2/12976 0/8576 2/4400
1 c.5G>A r.(?) p.(Arg2Gln) g.123444778C>T Copied from the Exome Variant Server ABCB9_000150 1/12972 1/8574 0/4398
1 c.19G>A r.(?) p.(Val7Met) g.123444764C>T Copied from the Exome Variant Server ABCB9_000149 1/13006 1/8600 0/4406
1 c.36C>A r.(=) p.(=) g.123444747G>T Copied from the Exome Variant Server ABCB9_000148 1/13006 1/8600 0/4406
1 c.38T>C r.(?) p.(Phe13Ser) g.123444745A>G Copied from the Exome Variant Server ABCB9_000147 2/13006 1/8600 1/4406
1 c.57C>T r.(=) p.(=) g.123444726G>A Copied from the Exome Variant Server ABCB9_000146 2/13006 0/8600 2/4406
1 c.94C>T r.(?) p.(Arg32Cys) g.123444689G>A Copied from the Exome Variant Server ABCB9_000145 1/13006 1/8600 0/4406
1 c.100C>G r.(?) p.(Leu34Val) g.123444683G>C Copied from the Exome Variant Server ABCB9_000144 1/13006 0/8600 1/4406
1 c.161G>T r.(?) p.(Cys54Phe) g.123444622C>A Copied from the Exome Variant Server ABCB9_000143 1/13000 0/8596 1/4404
1 c.233G>A r.(?) p.(Arg78Gln) g.123444550C>T Copied from the Exome Variant Server ABCB9_000142 1/13000 1/8594 0/4406
1 c.239G>A r.(?) p.(Arg80Gln) g.123444544C>T Copied from the Exome Variant Server ABCB9_000141 4/12998 0/8592 4/4406
1 c.264C>T r.(=) p.(=) g.123444519G>A Copied from the Exome Variant Server ABCB9_000140 10/13006 10/8600 0/4406
1 c.276C>A r.(?) p.(Phe92Leu) g.123444507G>T Copied from the Exome Variant Server ABCB9_000139 148/13006 134/8600 14/4406
1 c.277G>A r.(?) p.(Val93Met) g.123444506C>T Copied from the Exome Variant Server ABCB9_000138 2/13006 2/8600 0/4406
1 c.282C>T r.(=) p.(=) g.123444501G>A Copied from the Exome Variant Server ABCB9_000137 1/13006 0/8600 1/4406
1 c.289G>A r.(?) p.(Ala97Thr) g.123444494C>T Copied from the Exome Variant Server ABCB9_000136 2/13006 2/8600 0/4406
1 c.334C>T r.(?) p.(Arg112Trp) g.123444449G>A Copied from the Exome Variant Server ABCB9_000135 2/13004 2/8600 0/4404
1 c.361G>T r.(?) p.(Val121Leu) g.123444422C>A Copied from the Exome Variant Server ABCB9_000134 4/13004 4/8598 0/4406
1 c.363G>A r.(=) p.(=) g.123444420C>T Copied from the Exome Variant Server ABCB9_000133 6/13004 0/8598 6/4406
1 c.369G>A r.(=) p.(=) g.123444414C>T Copied from the Exome Variant Server ABCB9_000132 3/13004 2/8598 1/4406
1 c.381C>T r.(=) p.(=) g.123444402G>A Copied from the Exome Variant Server ABCB9_000131 1/13004 1/8600 0/4404
1 c.418G>A r.(?) p.(Val140Met) g.123444365C>T Copied from the Exome Variant Server ABCB9_000130 2/12990 1/8592 1/4398
1 c.422G>A r.(?) p.(Arg141Gln) g.123444361C>T Copied from the Exome Variant Server ABCB9_000129 4/12990 4/8590 0/4400
1 c.459C>T r.(=) p.(=) g.123444324G>A Copied from the Exome Variant Server ABCB9_000128 1/12980 1/8586 0/4394
1 c.518C>T r.(?) p.(Thr173Met) g.123444265G>A Copied from the Exome Variant Server ABCB9_000127 1/13002 1/8596 0/4406
1 c.521T>C r.(?) p.(Leu174Pro) g.123444262A>G Copied from the Exome Variant Server ABCB9_000126 1/13002 1/8596 0/4406
1 c.525G>A r.(=) p.(=) g.123444258C>T Copied from the Exome Variant Server ABCB9_000125 1/13004 1/8598 0/4406
1 c.550G>A r.(?) p.(Asp184Asn) g.123444233C>T Copied from the Exome Variant Server ABCB9_000124 2/13004 0/8598 2/4406
1 c.564C>T r.(=) p.(=) g.123444219G>A Copied from the Exome Variant Server ABCB9_000123 1/13004 1/8600 0/4404
1 c.602-28G>A r.(=) p.(=) g.123435140C>T Copied from the Exome Variant Server ABCB9_000122 1/13004 0/8600 1/4404
1 c.602G>C r.(?) p.(Gly201Ala) g.123435112C>G Copied from the Exome Variant Server ABCB9_000121 1/13006 1/8600 0/4406
1 c.626C>T r.(?) p.(Thr209Met) g.123435088G>A Copied from the Exome Variant Server ABCB9_000120 1/13006 1/8600 0/4406
1 c.633C>T r.(=) p.(=) g.123435081G>A Copied from the Exome Variant Server ABCB9_000119 2/13006 0/8600 2/4406
1 c.637A>G r.(?) p.(Ile213Val) g.123435077T>C Copied from the Exome Variant Server ABCB9_000118 1/13006 1/8600 0/4406
1 c.656A>G r.(?) p.(Gln219Arg) g.123435058T>C Copied from the Exome Variant Server ABCB9_000116 1/13006 1/8600 0/4406
1 c.687C>T r.(=) p.(=) g.123435027G>A Copied from the Exome Variant Server ABCB9_000114 1/13006 1/8600 0/4406
1 c.688G>A r.(?) p.(Val230Ile) g.123435026C>T Copied from the Exome Variant Server ABCB9_000111 2/13006 0/8600 2/4406
1 c.716+17C>G r.(=) p.(=) g.123434981G>C Copied from the Exome Variant Server ABCB9_000109 10/13006 1/8600 9/4406
1 c.716+21G>A r.(=) p.(=) g.123434977C>T Copied from the Exome Variant Server ABCB9_000108 2/13006 0/8600 2/4406
1 c.716+31G>A r.(=) p.(=) g.123434967C>T Copied from the Exome Variant Server ABCB9_000105 101/13004 3/8598 98/4406
1 c.742G>A r.(?) p.(Gly248Ser) g.123434440C>T Copied from the Exome Variant Server ABCB9_000117 1/13006 1/8600 0/4406
1 c.754C>T r.(?) p.(Leu252Phe) g.123434428G>A Copied from the Exome Variant Server ABCB9_000115 1/13006 1/8600 0/4406
1 c.778C>T r.(?) p.(Arg260Cys) g.123434404G>A Copied from the Exome Variant Server ABCB9_000113 1/13006 1/8600 0/4406
1 c.780C>T r.(=) p.(=) g.123434402G>A Copied from the Exome Variant Server ABCB9_000112 1/13006 0/8600 1/4406
1 c.800G>A r.(?) p.(Arg267His) g.123434382C>T Copied from the Exome Variant Server ABCB9_000110 1/13006 1/8600 0/4406
1 c.841C>T r.(?) p.(Arg281Cys) g.123434341G>A Copied from the Exome Variant Server ABCB9_000107 1/13006 1/8600 0/4406
1 c.843C>A r.(=) p.(=) g.123434339G>T Copied from the Exome Variant Server ABCB9_000106 1/13006 0/8600 1/4406
1 c.847+21A>G r.(=) p.(=) g.123434314T>C Copied from the Exome Variant Server ABCB9_000104 4/13006 0/8600 4/4406
1 c.847+35del r.(=) p.(=) g.123434300del Copied from the Exome Variant Server ABCB9_000103 1/12518 0/8254 1/4264
1 c.847+44A>G r.(=) p.(=) g.123434291T>C Copied from the Exome Variant Server ABCB9_000102 3/13006 3/8600 0/4406
1 c.847+45C>G r.(=) p.(=) g.123434290G>C Copied from the Exome Variant Server ABCB9_000101 2/13006 0/8600 2/4406
1 c.847+47C>A r.(=) p.(=) g.123434288G>T Copied from the Exome Variant Server ABCB9_000100 1/13006 1/8600 0/4406
1 c.848-14C>T r.(=) p.(=) g.123433390G>A Copied from the Exome Variant Server ABCB9_000099 1/13006 0/8600 1/4406
1 c.848-13G>A r.(=) p.(=) g.123433389C>T Copied from the Exome Variant Server ABCB9_000098 3/13006 3/8600 0/4406
1 c.848-9G>A r.(=) p.(=) g.123433385C>T Copied from the Exome Variant Server ABCB9_000097 2/13006 2/8600 0/4406
1 c.873G>T r.(=) p.(=) g.123433351C>A Copied from the Exome Variant Server ABCB9_000096 8/13006 8/8600 0/4406
1 c.1021A>T r.(?) p.(Met341Leu) g.123433203T>A Copied from the Exome Variant Server ABCB9_000095 1/13006 0/8600 1/4406
1 c.1024G>C r.(?) p.(Val342Leu) g.123433200C>G Copied from the Exome Variant Server ABCB9_000094 1/13006 1/8600 0/4406
1 c.1038C>T r.(=) p.(=) g.123433186G>A Copied from the Exome Variant Server ABCB9_000093 4/13004 1/8598 3/4406
1 c.1039G>A r.(?) p.(Gly347Ser) g.123433185C>T Copied from the Exome Variant Server ABCB9_000092 1/13004 1/8598 0/4406
1 c.1053+6C>G r.(=) p.(=) g.123433165G>C Copied from the Exome Variant Server ABCB9_000091 2/13004 2/8598 0/4406
1 c.1053+34A>G r.(=) p.(=) g.123433137T>C Copied from the Exome Variant Server ABCB9_000090 12968/13002 8598/8598 4370/4404
1 c.1054-42del r.(=) p.(=) g.123430811del Copied from the Exome Variant Server ABCB9_000089 1/12518 1/8254 0/4264
1 c.1054-38T>C r.(=) p.(=) g.123430807A>G Copied from the Exome Variant Server ABCB9_000088 1/13006 1/8600 0/4406
1 c.1054-34G>T r.(=) p.(=) g.123430803C>A Copied from the Exome Variant Server ABCB9_000087 1/13006 0/8600 1/4406
1 c.1054-25C>T r.(=) p.(=) g.123430794G>A Copied from the Exome Variant Server ABCB9_000086 18/13006 2/8600 16/4406
1 c.1100C>T r.(?) p.(Thr367Met) g.123430723G>A Copied from the Exome Variant Server ABCB9_000085 1/13006 1/8600 0/4406
1 c.1104G>A r.(=) p.(=) g.123430719C>T Copied from the Exome Variant Server ABCB9_000084 1/13006 0/8600 1/4406
1 c.1116C>A r.(=) p.(=) g.123430707G>T Copied from the Exome Variant Server ABCB9_000083 1/13006 1/8600 0/4406
1 c.1149T>C r.(=) p.(=) g.123430674A>G Copied from the Exome Variant Server ABCB9_000082 1/13006 1/8600 0/4406
1 c.1177C>T r.(?) p.(Arg393Trp) g.123430646G>A Copied from the Exome Variant Server ABCB9_000081 1/13006 0/8600 1/4406
1 c.1226A>C r.(?) p.(Tyr409Ser) g.123430597T>G Copied from the Exome Variant Server ABCB9_000080 2/13006 2/8600 0/4406
1 c.1237G>A r.(?) p.(Val413Ile) g.123430586C>T Copied from the Exome Variant Server ABCB9_000079 4/13006 2/8600 2/4406
1 c.1243G>A r.(?) p.(Gly415Ser) g.123430580C>T Copied from the Exome Variant Server ABCB9_000078 1/13006 1/8600 0/4406
1 c.1251+17A>G r.(=) p.(=) g.123430555T>C Copied from the Exome Variant Server ABCB9_000077 15/13004 0/8598 15/4406
1 c.1251+24T>C r.(=) p.(=) g.123430548A>G Copied from the Exome Variant Server ABCB9_000076 1/13006 0/8600 1/4406
1 c.1251+33G>C r.(=) p.(=) g.123430539C>G Copied from the Exome Variant Server ABCB9_000075 1/13006 1/8600 0/4406
1 c.1251+1456T>A r.(=) p.(=) g.123429116A>T Copied from the Exome Variant Server ABCB9_000074 1/13006 0/8600 1/4406
1 c.1251+1464C>T r.(=) p.(=) g.123429108G>A Copied from the Exome Variant Server ABCB9_000073 1/13006 1/8600 0/4406
1 c.1251+1480C>T r.(=) p.(=) g.123429092G>A Copied from the Exome Variant Server ABCB9_000072 1/13006 0/8600 1/4406
1 c.1251+1544C>T r.(=) p.(=) g.123429028G>A Copied from the Exome Variant Server ABCB9_000071 2/13006 0/8600 2/4406
1 c.1251+1553C>T r.(=) p.(=) g.123429019G>A Copied from the Exome Variant Server ABCB9_000070 1/13006 1/8600 0/4406
1 c.1251+1581G>A r.(=) p.(=) g.123428991C>T Copied from the Exome Variant Server ABCB9_000069 1/13006 1/8600 0/4406
1 c.1251+1590A>G r.(=) p.(=) g.123428982T>C Copied from the Exome Variant Server ABCB9_000068 1/13006 1/8600 0/4406
1 c.1251+1593G>A r.(=) p.(=) g.123428979C>T Copied from the Exome Variant Server ABCB9_000067 1/13006 1/8600 0/4406
1 c.1251+1625T>C r.(=) p.(=) g.123428947A>G Copied from the Exome Variant Server ABCB9_000066 3/13006 3/8600 0/4406
1 c.1251+1630T>C r.(=) p.(=) g.123428942A>G Copied from the Exome Variant Server ABCB9_000065 3/13006 0/8600 3/4406
1 c.1251+1653C>T r.(=) p.(=) g.123428919G>A Copied from the Exome Variant Server ABCB9_000063 2/13006 0/8600 2/4406
1 c.1251+1679T>C r.(=) p.(=) g.123428893A>G Copied from the Exome Variant Server ABCB9_000061 2/13006 0/8600 2/4406
1 c.1252-38G>T r.(=) p.(=) g.123425580C>A Copied from the Exome Variant Server ABCB9_000059 1/12988 0/8592 1/4396
1 c.1252-33G>A r.(=) p.(=) g.123425575C>T Copied from the Exome Variant Server ABCB9_000064 3963/12990 3490/8592 473/4398
1 c.1286G>A r.(?) p.(Gly429Glu) g.123425508C>T Copied from the Exome Variant Server ABCB9_000062 2/13004 0/8600 2/4404
1 c.1325G>A r.(?) p.(Arg442Gln) g.123425469C>T Copied from the Exome Variant Server ABCB9_000060 3/13006 1/8600 2/4406
1 c.1345G>A r.(?) p.(Asp449Asn) g.123425449C>T Copied from the Exome Variant Server ABCB9_000058 1/13004 1/8598 0/4406
1 c.1363G>A r.(?) p.(Asp455Asn) g.123425431C>T Copied from the Exome Variant Server ABCB9_000057 4/13000 4/8598 0/4402
1 c.1378C>T r.(?) p.(Arg460Trp) g.123425416G>A Copied from the Exome Variant Server ABCB9_000056 1/13004 1/8600 0/4404
1 c.1411C>T r.(?) p.(Arg471Cys) g.123425383G>A Copied from the Exome Variant Server ABCB9_000055 1/13006 0/8600 1/4406
1 c.1424A>T r.(?) p.(His475Leu) g.123425370T>A Copied from the Exome Variant Server ABCB9_000054 8/13002 0/8600 8/4402
1 c.1440+8C>T r.(=) p.(=) g.123425346G>A Copied from the Exome Variant Server ABCB9_000053 1/13004 1/8600 0/4404
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