All transcript variants in gene BCOR

Information The variants shown are described using the NM_017745.5 transcript reference sequence.

199 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     
?/? c.-40-12_-40-11insT r.(=) p.(=) g.39937233_39937234insA Copied from the Exome Variant Server BCOR_000196 3/10205 3/6484 0/3721
?/? c.-32C>T r.(=) p.(=) g.39937214G>A Copied from the Exome Variant Server BCOR_000195 1/10561 1/6728 0/3833
?/? c.18C>T r.(=) p.(=) g.39937165G>A Copied from the Exome Variant Server BCOR_000194 1/10561 1/6728 0/3833
?/? c.64A>C r.(?) p.(Met22Leu) g.39937119T>G Copied from the Exome Variant Server BCOR_000193 2/10561 2/6728 0/3833
?/? c.86+22G>A r.(=) p.(=) g.39937075C>T Copied from the Exome Variant Server BCOR_000192 1/10561 1/6728 0/3833
?/? c.86+41G>A r.(=) p.(=) g.39937056C>T Copied from the Exome Variant Server BCOR_000191 7/10561 7/6728 0/3833
?/? c.87-16G>A r.(=) p.(=) g.39935801C>T Copied from the Exome Variant Server BCOR_000190 2/10561 0/6728 2/3833
?/? c.111C>T r.(=) p.(=) g.39935761G>A Copied from the Exome Variant Server BCOR_000188 1/10561 0/6728 1/3833
?/? c.155A>G r.(?) p.(Asn52Ser) g.39935717T>C Copied from the Exome Variant Server BCOR_000186 1/10561 1/6728 0/3833
?/? c.163G>A r.(?) p.(Val55Met) g.39935709C>T Copied from the Exome Variant Server BCOR_000184 1/10561 1/6728 0/3833
?/? c.165+11A>G r.(=) p.(=) g.39935696T>C Copied from the Exome Variant Server BCOR_000181 1/10561 0/6728 1/3833
?/? c.166-38_166-37insGG r.(=) p.(=) g.39934470_39934471insCC Copied from the Exome Variant Server BCOR_000180 35/10140 1/6430 34/3710
?/? c.179C>T r.(?) p.(Thr60Met) g.39934420G>A Copied from the Exome Variant Server BCOR_000177 1/10554 1/6722 0/3832
?/? c.223A>T r.(?) p.(Thr75Ser) g.39934376T>A Copied from the Exome Variant Server BCOR_000175 5/10561 0/6728 5/3833
?/? c.242G>A r.(?) p.(Gly81Glu) g.39934357C>T Copied from the Exome Variant Server BCOR_000173 5/10561 0/6728 5/3833
?/? c.262A>G r.(?) p.(Ile88Val) g.39934337T>C Copied from the Exome Variant Server BCOR_000171 3/10561 0/6728 3/3833
?/? c.267C>G r.(=) p.(=) g.39934332G>C Copied from the Exome Variant Server BCOR_000169 1/10561 0/6728 1/3833
?/? c.285A>C r.(=) p.(=) g.39934314T>G Copied from the Exome Variant Server BCOR_000167 1/10561 1/6728 0/3833
?/? c.365T>C r.(?) p.(Met122Thr) g.39934234A>G Copied from the Exome Variant Server BCOR_000165 1/10561 0/6728 1/3833
?/? c.408C>T r.(=) p.(=) g.39934191G>A Copied from the Exome Variant Server BCOR_000189 29/10561 0/6728 29/3833
?/? c.409G>A r.(?) p.(Val137Ile) g.39934190C>T Copied from the Exome Variant Server BCOR_000187 6/10561 0/6728 6/3833
?/? c.455C>T r.(?) p.(Pro152Leu) g.39934144G>A Copied from the Exome Variant Server BCOR_000185 1/10561 1/6728 0/3833
?/? c.482C>T r.(?) p.(Ala161Val) g.39934117G>A Copied from the Exome Variant Server BCOR_000183 5/10561 5/6728 0/3833
?/? c.519C>T r.(=) p.(=) g.39934080G>A Copied from the Exome Variant Server BCOR_000182 1/10561 1/6728 0/3833
?/? c.528G>C r.(?) p.(Gln176His) g.39934071C>G Copied from the Exome Variant Server BCOR_000179 1/10561 1/6728 0/3833
?/? c.530G>T r.(?) p.(Ser177Ile) g.39934069C>A Copied from the Exome Variant Server BCOR_000178 1/10561 0/6728 1/3833
?/? c.545A>G r.(?) p.(Asn182Ser) g.39934054T>C Copied from the Exome Variant Server BCOR_000176 1/10561 1/6728 0/3833
?/? c.547G>A r.(?) p.(Gly183Ser) g.39934052C>T Copied from the Exome Variant Server BCOR_000174 1/10561 1/6728 0/3833
?/? c.626C>T r.(?) p.(Ser209Leu) g.39933973G>A Copied from the Exome Variant Server BCOR_000172 5/10561 4/6728 1/3833
?/? c.651G>A r.(?) p.(Met217Ile) g.39933948C>T Copied from the Exome Variant Server BCOR_000170 1/10561 1/6728 0/3833
?/? c.701A>G r.(?) p.(Tyr234Cys) g.39933898T>C Copied from the Exome Variant Server BCOR_000168 1/10561 0/6728 1/3833
?/? c.739C>T r.(=) p.(=) g.39933860G>A Copied from the Exome Variant Server BCOR_000166 1/10561 1/6728 0/3833
?/? c.759C>T r.(=) p.(=) g.39933840G>A Copied from the Exome Variant Server BCOR_000164 1/10561 1/6728 0/3833
?/? c.840C>A r.(=) p.(=) g.39933759G>T Copied from the Exome Variant Server BCOR_000163 1/10558 0/6727 1/3831
?/? c.846C>T r.(=) p.(=) g.39933753G>A Copied from the Exome Variant Server BCOR_000162 1/10559 1/6727 0/3832
?/? c.847G>A r.(?) p.(Ala283Thr) g.39933752C>T Copied from the Exome Variant Server BCOR_000161 1/10558 0/6726 1/3832
?/? c.906C>T r.(=) p.(=) g.39933693G>A Copied from the Exome Variant Server BCOR_000160 5/10561 3/6728 2/3833
?/? c.909C>T r.(=) p.(=) g.39933690G>A Copied from the Exome Variant Server BCOR_000159 8/10561 0/6728 8/3833
?/? c.960G>A r.(=) p.(=) g.39933639C>T Copied from the Exome Variant Server BCOR_000158 1/10557 1/6726 0/3831
?/? c.971G>T r.(?) p.(Gly324Val) g.39933628C>A Copied from the Exome Variant Server BCOR_000157 1/10560 1/6727 0/3833
?/? c.1024C>G r.(?) p.(Arg342Gly) g.39933575G>C Copied from the Exome Variant Server BCOR_000156 1/10561 1/6728 0/3833
?/? c.1065G>A r.(=) p.(=) g.39933534C>T Copied from the Exome Variant Server BCOR_000155 1/10561 1/6728 0/3833
?/? c.1157C>A r.(?) p.(Ala386Asp) g.39933442G>T Copied from the Exome Variant Server BCOR_000154 1/10561 1/6728 0/3833
?/? c.1161G>C r.(?) p.(Arg387Ser) g.39933438C>G Copied from the Exome Variant Server BCOR_000153 1/10561 0/6728 1/3833
?/? c.1191G>A r.(=) p.(=) g.39933408C>T Copied from the Exome Variant Server BCOR_000152 1/10561 1/6728 0/3833
?/? c.1200C>A r.(=) p.(=) g.39933399G>T Copied from the Exome Variant Server BCOR_000151 1/10560 0/6728 1/3832
?/? c.1242G>A r.(=) p.(=) g.39933357C>T Copied from the Exome Variant Server BCOR_000150 2/10560 2/6727 0/3833
?/? c.1260T>C r.(=) p.(=) g.39933339A>G Copied from the Exome Variant Server BCOR_000149 9460/10561 5915/6728 3545/3833
?/? c.1263C>A r.(=) p.(=) g.39933336G>T Copied from the Exome Variant Server BCOR_000148 1/10561 0/6728 1/3833
?/? c.1434C>T r.(=) p.(=) g.39933165G>A Copied from the Exome Variant Server BCOR_000147 1/10561 0/6728 1/3833
?/? c.1449G>A r.(=) p.(=) g.39933150C>T Copied from the Exome Variant Server BCOR_000146 1/10561 0/6728 1/3833
?/? c.1620G>A r.(=) p.(=) g.39932979C>T Copied from the Exome Variant Server BCOR_000145 2/10561 2/6728 0/3833
?/? c.1634C>T r.(?) p.(Pro545Leu) g.39932965G>A Copied from the Exome Variant Server BCOR_000143 1/10561 0/6728 1/3833
?/? c.1650C>T r.(=) p.(=) g.39932949G>A Copied from the Exome Variant Server BCOR_000198 81/10561 76/6728 5/3833
?/? c.1651G>A r.(?) p.(Asp551Asn) g.39932948C>T Copied from the Exome Variant Server BCOR_000140 1/10561 0/6728 1/3833
?/? c.1669G>A r.(?) p.(Val557Ile) g.39932930C>T Copied from the Exome Variant Server BCOR_000137 2/10561 1/6728 1/3833
?/? c.1685C>T r.(?) p.(Ser562Leu) g.39932914G>A Copied from the Exome Variant Server BCOR_000135 1/10561 0/6728 1/3833
?/? c.1692A>G r.(=) p.(=) g.39932907T>C Copied from the Exome Variant Server BCOR_000133 3818/10561 766/6728 3052/3833
?/? c.1779C>A r.(=) p.(=) g.39932820G>T Copied from the Exome Variant Server BCOR_000131 201/10561 7/6728 194/3833
?/? c.1791C>T r.(=) p.(=) g.39932808G>A Copied from the Exome Variant Server BCOR_000129 394/10561 372/6728 22/3833
?/? c.1849G>A r.(?) p.(Ala617Thr) g.39932750C>T Copied from the Exome Variant Server BCOR_000127 1/10561 0/6728 1/3833
?/? c.1910C>G r.(?) p.(Ser637Cys) g.39932689G>C Copied from the Exome Variant Server BCOR_000125 1/10561 0/6728 1/3833
?/? c.1987C>A r.(?) p.(Pro663Thr) g.39932612G>T Copied from the Exome Variant Server BCOR_000123 1/10561 1/6728 0/3833
?/? c.2002G>A r.(?) p.(Val668Ile) g.39932597C>T Copied from the Exome Variant Server BCOR_000121 1/10560 0/6728 1/3832
?/? c.2008C>T r.(?) p.(Pro670Ser) g.39932591G>A Copied from the Exome Variant Server BCOR_000119 2/10560 2/6728 0/3832
?/? c.2014T>G r.(?) p.(Ser672Ala) g.39932585A>C Copied from the Exome Variant Server BCOR_000117 1/10559 1/6728 0/3831
?/? c.2032C>T r.(?) p.(Pro678Ser) g.39932567G>A Copied from the Exome Variant Server BCOR_000114 3/10560 2/6728 1/3832
?/? c.2035G>A r.(?) p.(Val679Ile) g.39932564C>T Copied from the Exome Variant Server BCOR_000111 6/10560 6/6728 0/3832
?/? c.2129G>A r.(?) p.(Arg710His) g.39932470C>T Copied from the Exome Variant Server BCOR_000108 2/10561 2/6728 0/3833
?/? c.2140G>C r.(?) p.(Val714Leu) g.39932459C>G Copied from the Exome Variant Server BCOR_000144 1/10561 0/6728 1/3833
?/? c.2148C>T r.(=) p.(=) g.39932451G>A Copied from the Exome Variant Server BCOR_000142 4/10561 0/6728 4/3833
?/? c.2151A>G r.(=) p.(=) g.39932448T>C Copied from the Exome Variant Server BCOR_000141 1/10561 0/6728 1/3833
?/? c.2199G>T r.(=) p.(=) g.39932400C>A Copied from the Exome Variant Server BCOR_000139 3/10561 2/6728 1/3833
?/? c.2260C>T r.(?) p.(Arg754Cys) g.39932339G>A Copied from the Exome Variant Server BCOR_000138 1/10561 1/6728 0/3833
?/? c.2281C>T r.(?) p.(Arg761Trp) g.39932318G>A Copied from the Exome Variant Server BCOR_000136 2/10561 1/6728 1/3833
?/? c.2288G>T r.(?) p.(Arg763Leu) g.39932311C>A Copied from the Exome Variant Server BCOR_000134 4/10561 0/6728 4/3833
?/? c.2407C>T r.(?) p.(Leu803Phe) g.39932192G>A Copied from the Exome Variant Server BCOR_000132 1/10561 0/6728 1/3833
?/? c.2423T>A r.(?) p.(Leu808His) g.39932176A>T Copied from the Exome Variant Server BCOR_000130 10/10561 0/6728 10/3833
?/? c.2424T>C r.(=) p.(=) g.39932175A>G Copied from the Exome Variant Server BCOR_000128 9/10561 0/6728 9/3833
?/? c.2512C>T r.(?) p.(Pro838Ser) g.39932087G>A Copied from the Exome Variant Server BCOR_000126 2/10561 2/6728 0/3833
?/? c.2513C>G r.(?) p.(Pro838Arg) g.39932086G>C Copied from the Exome Variant Server BCOR_000124 1/10561 1/6728 0/3833
?/? c.2514C>A r.(=) p.(=) g.39932085G>T Copied from the Exome Variant Server BCOR_000122 10/10561 8/6728 2/3833
?/? c.2525T>C r.(?) p.(Val842Ala) g.39932074A>G Copied from the Exome Variant Server BCOR_000120 3/10561 0/6728 3/3833
?/? c.2531C>T r.(?) p.(Pro844Leu) g.39932068G>A Copied from the Exome Variant Server BCOR_000116 1/10561 0/6728 1/3833
?/? c.2581C>T r.(?) p.(Arg861Cys) g.39932018G>A Copied from the Exome Variant Server BCOR_000197 1/10561 0/6728 1/3833
?/? c.2607T>C r.(=) p.(=) g.39931992A>G Copied from the Exome Variant Server BCOR_000112 1/10561 1/6728 0/3833
?/? c.2609C>G r.(?) p.(Thr870Ser) g.39931990G>C Copied from the Exome Variant Server BCOR_000109 1/10561 1/6728 0/3833
?/? c.2690C>T r.(?) p.(Ser897Leu) g.39931909G>A Copied from the Exome Variant Server BCOR_000106 1/10561 0/6728 1/3833
?/? c.2691G>A r.(=) p.(=) g.39931908C>T Copied from the Exome Variant Server BCOR_000199 3/10561 3/6728 0/3833
?/? c.2706G>A r.(=) p.(=) g.39931893C>T Copied from the Exome Variant Server BCOR_000102 1/10561 1/6728 0/3833
?/? c.2769A>G r.(=) p.(=) g.39931830T>C Copied from the Exome Variant Server BCOR_000100 1/10561 1/6728 0/3833
?/? c.2807C>A r.(?) p.(Thr936Asn) g.39931792G>T Copied from the Exome Variant Server BCOR_000098 1/10561 1/6728 0/3833
?/? c.2813C>T r.(?) p.(Thr938Ile) g.39931786G>A Copied from the Exome Variant Server BCOR_000096 1/10561 1/6728 0/3833
?/? c.2910G>A r.(=) p.(=) g.39931689C>T Copied from the Exome Variant Server BCOR_000094 1/10560 1/6728 0/3832
?/? c.2916C>T r.(=) p.(=) g.39931683G>A Copied from the Exome Variant Server BCOR_000118 1/10560 1/6728 0/3832
?/? c.2991A>G r.(=) p.(=) g.39931608T>C Copied from the Exome Variant Server BCOR_000115 1/10561 0/6728 1/3833
?/? c.2998-71del r.(=) p.(=) g.39931014del Copied from the Exome Variant Server BCOR_000113 3/10188 2/6471 1/3717
?/? c.3018C>G r.(?) p.(Asp1006Glu) g.39930923G>C Copied from the Exome Variant Server BCOR_000110 1/10558 1/6725 0/3833
?/? c.3036C>T r.(=) p.(=) g.39930905G>A Copied from the Exome Variant Server BCOR_000107 1/10557 1/6724 0/3833
?/? c.3051+21T>C r.(=) p.(=) g.39930869A>G Copied from the Exome Variant Server BCOR_000105 1/10555 1/6722 0/3833
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