All transcript variants in gene TOPBP1

Information The variants shown are described using the NM_007027.3 transcript reference sequence.

210 entries on 3 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.77C>G r.(?) p.(Ala26Gly) g.133379895G>C Copied from the Exome Variant Server TOPBP1_000209 1/10294 1/7160 0/3134
?/? c.85-48T>C r.(=) p.(=) g.133378042A>G Copied from the Exome Variant Server TOPBP1_000208 3/10208 0/7116 3/3092
?/? c.139G>T r.(?) p.(Ala47Ser) g.133377940C>A Copied from the Exome Variant Server TOPBP1_000207 1/10298 1/7164 0/3134
?/? c.174T>C r.(=) p.(=) g.133377905A>G Copied from the Exome Variant Server TOPBP1_000206 1/10294 1/7162 0/3132
?/? c.180T>C r.(=) p.(=) g.133377899A>G Copied from the Exome Variant Server TOPBP1_000205 3/10298 0/7164 3/3134
?/? c.193G>A r.(?) p.(Gly65Ser) g.133377886C>T Copied from the Exome Variant Server TOPBP1_000204 1/10298 1/7164 0/3134
?/? c.195C>T r.(=) p.(=) g.133377884G>A Copied from the Exome Variant Server TOPBP1_000203 7/10298 2/7164 5/3134
?/? c.196G>A r.(?) p.(Val66Ile) g.133377883C>T Copied from the Exome Variant Server TOPBP1_000202 1/10298 0/7164 1/3134
?/? c.220-39T>C r.(=) p.(=) g.133376824A>G Copied from the Exome Variant Server TOPBP1_000201 80/4566 74/3182 6/1384
?/? c.255A>G r.(?) p.(Ile85Met) g.133376750T>C Copied from the Exome Variant Server TOPBP1_000200 5/11980 5/8230 0/3750
?/? c.279T>G r.(?) p.(Cys93Trp) g.133376726A>C Copied from the Exome Variant Server TOPBP1_000199 1/11980 0/8232 1/3748
?/? c.291C>T r.(=) p.(=) g.133376714G>A Copied from the Exome Variant Server TOPBP1_000198 7/11948 6/8226 1/3722
?/? c.316A>T r.(?) p.(Met106Leu) g.133376689T>A Copied from the Exome Variant Server TOPBP1_000197 1/11916 0/8204 1/3712
?/? c.363+36A>G r.(=) p.(=) g.133376606T>C Copied from the Exome Variant Server TOPBP1_000196 1/11766 1/8152 0/3614
?/? c.363+39del r.(=) p.(=) g.133376603del Copied from the Exome Variant Server TOPBP1_000195 22/11320 0/7820 22/3500
?/? c.374A>G r.(?) p.(His125Arg) g.133375691T>C Copied from the Exome Variant Server TOPBP1_000194 1/11916 1/8190 0/3726
?/? c.468T>C r.(=) p.(=) g.133375597A>G Copied from the Exome Variant Server TOPBP1_000193 5/11862 0/8180 5/3682
?/? c.483C>T r.(=) p.(=) g.133375582G>A Copied from the Exome Variant Server TOPBP1_000192 1/11848 1/8184 0/3664
?/? c.484C>T r.(=) p.(=) g.133375581G>A Copied from the Exome Variant Server TOPBP1_000191 1/11846 0/8184 1/3662
?/? c.488A>G r.(?) p.(Lys163Arg) g.133375577T>C Copied from the Exome Variant Server TOPBP1_000190 1/11834 1/8180 0/3654
?/? c.545+45C>G r.(=) p.(=) g.133375475G>C Copied from the Exome Variant Server TOPBP1_000189 1362/11756 776/8140 586/3616
?/? c.545+51A>C r.(=) p.(=) g.133375469T>G Copied from the Exome Variant Server TOPBP1_000188 2/6028 0/4160 2/1868
?/? c.569T>C r.(?) p.(Ile190Thr) g.133374307A>G Copied from the Exome Variant Server TOPBP1_000186 1/11820 1/8162 0/3658
?/? c.595A>G r.(?) p.(Ile199Val) g.133374281T>C Copied from the Exome Variant Server TOPBP1_000210 1/11898 1/8188 0/3710
?/? c.601C>T r.(?) p.(Leu201Phe) g.133374275G>A Copied from the Exome Variant Server TOPBP1_000183 1/11908 0/8196 1/3712
?/? c.635G>T r.(?) p.(Gly212Val) g.133374241C>A Copied from the Exome Variant Server TOPBP1_000181 1/12024 1/8230 0/3794
?/? c.672G>T r.(?) p.(Lys224Asn) g.133374204C>A Copied from the Exome Variant Server TOPBP1_000187 5/12028 0/8240 5/3788
?/? c.688A>G r.(?) p.(Met230Val) g.133374188T>C Copied from the Exome Variant Server TOPBP1_000185 3/12018 3/8234 0/3784
?/? c.723C>T r.(=) p.(=) g.133374153G>A Copied from the Exome Variant Server TOPBP1_000184 8/11936 0/8206 8/3730
?/? c.742+11_742+12del r.(=) p.(=) g.133374122_133374123del Copied from the Exome Variant Server TOPBP1_000182 24/11378 15/7832 9/3546
?/? c.742+44A>G r.(=) p.(=) g.133374090T>C Copied from the Exome Variant Server TOPBP1_000180 1/11692 1/8116 0/3576
?/? c.743-12T>C r.(=) p.(=) g.133372380A>G Copied from the Exome Variant Server TOPBP1_000179 1/12010 0/8256 1/3754
?/? c.743-9A>G r.(=) p.(=) g.133372377T>C Copied from the Exome Variant Server TOPBP1_000178 1/12022 1/8264 0/3758
?/? c.743-8C>T r.(=) p.(=) g.133372376G>A Copied from the Exome Variant Server TOPBP1_000177 4/12022 1/8264 3/3758
?/? c.803T>C r.(?) p.(Phe268Ser) g.133372308A>G Copied from the Exome Variant Server TOPBP1_000176 1/12054 1/8256 0/3798
?/? c.877A>G r.(?) p.(Met293Val) g.133372234T>C Copied from the Exome Variant Server TOPBP1_000175 17/12000 0/8244 17/3756
?/? c.911A>G r.(?) p.(Asn304Ser) g.133372200T>C Copied from the Exome Variant Server TOPBP1_000174 1/11914 1/8212 0/3702
?/? c.922+10A>G r.(=) p.(=) g.133372179T>C Copied from the Exome Variant Server TOPBP1_000173 1/11870 1/8196 0/3674
?/? c.922+51A>G r.(=) p.(=) g.133372138T>C Copied from the Exome Variant Server TOPBP1_000172 4/6028 0/4164 4/1864
?/? c.923-21A>G r.(=) p.(=) g.133371494T>C Copied from the Exome Variant Server TOPBP1_000171 1/11740 0/8134 1/3606
?/? c.923-18C>T r.(=) p.(=) g.133371491G>A Copied from the Exome Variant Server TOPBP1_000170 1/11738 0/8134 1/3604
?/? c.925C>T r.(?) p.(Arg309Cys) g.133371471G>A Copied from the Exome Variant Server TOPBP1_000169 779/11778 621/8140 158/3638
?/? c.926G>A r.(?) p.(Arg309His) g.133371470C>T Copied from the Exome Variant Server TOPBP1_000168 1/11796 1/8146 0/3650
?/? c.947A>G r.(?) p.(Asn316Ser) g.133371449T>C Copied from the Exome Variant Server TOPBP1_000167 1/11822 1/8154 0/3668
?/? c.951T>G r.(?) p.(Ile317Met) g.133371445A>C Copied from the Exome Variant Server TOPBP1_000166 2/11824 2/8156 0/3668
?/? c.973G>A r.(?) p.(Val325Ile) g.133371423C>T Copied from the Exome Variant Server TOPBP1_000165 3/11850 3/8166 0/3684
?/? c.1014G>A r.(=) p.(=) g.133371382C>T Copied from the Exome Variant Server TOPBP1_000164 1/11850 1/8166 0/3684
?/? c.1070A>T r.(?) p.(Asp357Val) g.133371326T>A Copied from the Exome Variant Server TOPBP1_000163 13/11842 0/8158 13/3684
?/? c.1079A>G r.(?) p.(Asp360Gly) g.133371317T>C Copied from the Exome Variant Server TOPBP1_000162 1/11868 1/8166 0/3702
?/? c.1089+43T>G r.(=) p.(=) g.133371264A>C Copied from the Exome Variant Server TOPBP1_000161 2/11966 0/8216 2/3750
?/? c.1090-48T>C r.(=) p.(=) g.133368835A>G Copied from the Exome Variant Server TOPBP1_000160 1/11488 0/7998 1/3490
?/? c.1090-23A>G r.(=) p.(=) g.133368810T>C Copied from the Exome Variant Server TOPBP1_000159 1/11660 1/8096 0/3564
?/? c.1090-13T>C r.(=) p.(=) g.133368800A>G Copied from the Exome Variant Server TOPBP1_000158 2/11714 0/8122 2/3592
?/? c.1090A>T r.(?) p.(Ile364Leu) g.133368787T>A Copied from the Exome Variant Server TOPBP1_000157 6/11748 3/8128 3/3620
?/? c.1162C>T r.(?) p.(Arg388Cys) g.133368715G>A Copied from the Exome Variant Server TOPBP1_000156 1/11876 1/8182 0/3694
?/? c.1173G>C r.(?) p.(Gln391His) g.133368704C>G Copied from the Exome Variant Server TOPBP1_000155 1/11866 1/8182 0/3684
?/? c.1207G>C r.(?) p.(Asp403His) g.133368670C>G Copied from the Exome Variant Server TOPBP1_000154 1/11838 0/8166 1/3672
?/? c.1253+48T>A r.(=) p.(=) g.133368576A>T Copied from the Exome Variant Server TOPBP1_000153 1/11726 1/8134 0/3592
?/? c.1254-34T>G r.(=) p.(=) g.133368511A>C Copied from the Exome Variant Server TOPBP1_000152 1/11966 1/8236 0/3730
?/? c.1254-28A>G r.(=) p.(=) g.133368505T>C Copied from the Exome Variant Server TOPBP1_000151 32/11972 28/8236 4/3736
?/? c.1254-19C>T r.(=) p.(=) g.133368496G>A Copied from the Exome Variant Server TOPBP1_000150 1/11980 1/8230 0/3750
?/? c.1254-16T>C r.(=) p.(=) g.133368493A>G Copied from the Exome Variant Server TOPBP1_000149 1/11988 1/8236 0/3752
?/? c.1341C>T r.(=) p.(=) g.133368390G>A Copied from the Exome Variant Server TOPBP1_000148 1/11898 0/8202 1/3696
?/? c.1369A>C r.(?) p.(Lys457Gln) g.133368362T>G Copied from the Exome Variant Server TOPBP1_000147 9175/11872 6273/8182 2902/3690
?/? c.1372C>G r.(?) p.(Pro458Ala) g.133368359G>C Copied from the Exome Variant Server TOPBP1_000146 1/11864 1/8186 0/3678
?/? c.1404_1406del r.(?) p.(Lys468del) g.133368325_133368327del Copied from the Exome Variant Server TOPBP1_000144 4/11382 2/7840 2/3542
?/? c.1439G>A r.(?) p.(Ser480Asn) g.133368292C>T Copied from the Exome Variant Server TOPBP1_000142 1/11862 0/8180 1/3682
?/? c.1504+27A>C r.(=) p.(=) g.133368200T>G Copied from the Exome Variant Server TOPBP1_000140 1/11814 0/8186 1/3628
?/? c.1504+28G>A r.(=) p.(=) g.133368199C>T Copied from the Exome Variant Server TOPBP1_000138 1873/11814 1599/8186 274/3628
?/? c.1509G>C r.(?) p.(Glu503Asp) g.133363203C>G Copied from the Exome Variant Server TOPBP1_000136 1/11854 0/8150 1/3704
?/? c.1517C>T r.(?) p.(Thr506Met) g.133363195G>A Copied from the Exome Variant Server TOPBP1_000134 4/11864 2/8160 2/3704
?/? c.1536T>G r.(?) p.(Phe512Leu) g.133363176A>C Copied from the Exome Variant Server TOPBP1_000132 1/11862 1/8162 0/3700
?/? c.1568A>T r.(?) p.(Asp523Val) g.133363144T>A Copied from the Exome Variant Server TOPBP1_000130 1/11908 0/8180 1/3728
?/? c.1578C>A r.(?) p.(His526Gln) g.133363134G>T Copied from the Exome Variant Server TOPBP1_000128 2/11918 2/8182 0/3736
?/? c.1596A>G r.(=) p.(=) g.133363116T>C Copied from the Exome Variant Server TOPBP1_000126 1/11896 1/8172 0/3724
?/? c.1642A>T r.(?) p.(Thr548Ser) g.133363070T>A Copied from the Exome Variant Server TOPBP1_000124 15/11864 0/8162 15/3702
?/? c.1764A>G r.(=) p.(=) g.133362948T>C Copied from the Exome Variant Server TOPBP1_000145 21/12126 0/8288 21/3838
?/? c.1823G>A r.(?) p.(Gly608Glu) g.133362889C>T Copied from the Exome Variant Server TOPBP1_000143 1/12184 0/8314 1/3870
?/? c.1848+33C>G r.(=) p.(=) g.133362831G>C Copied from the Exome Variant Server TOPBP1_000141 9/12110 3/8282 6/3828
?/? c.1848+34G>A r.(=) p.(=) g.133362830C>T Copied from the Exome Variant Server TOPBP1_000139 214/12094 129/8276 85/3818
?/? c.1848+38G>A r.(=) p.(=) g.133362826C>T Copied from the Exome Variant Server TOPBP1_000137 4/12096 0/8272 4/3824
?/? c.1848+49G>T r.(=) p.(=) g.133362815C>A Copied from the Exome Variant Server TOPBP1_000135 66/12040 59/8238 7/3802
?/? c.1849-23A>G r.(=) p.(=) g.133362239T>C Copied from the Exome Variant Server TOPBP1_000133 1/11774 1/8148 0/3626
?/? c.1858A>G r.(?) p.(Ile620Val) g.133362207T>C Copied from the Exome Variant Server TOPBP1_000131 1/11830 1/8168 0/3662
?/? c.1865A>G r.(?) p.(Tyr622Cys) g.133362200T>C Copied from the Exome Variant Server TOPBP1_000129 3/11842 3/8172 0/3670
?/? c.1897C>G r.(?) p.(Leu633Val) g.133362168G>C Copied from the Exome Variant Server TOPBP1_000127 1/11930 0/8204 1/3726
?/? c.1911T>C r.(=) p.(=) g.133362154A>G Copied from the Exome Variant Server TOPBP1_000125 1904/11926 1617/8202 287/3724
?/? c.1941G>A r.(=) p.(=) g.133362124C>T Copied from the Exome Variant Server TOPBP1_000123 1/11950 0/8230 1/3720
?/? c.2001A>G r.(=) p.(=) g.133362064T>C Copied from the Exome Variant Server TOPBP1_000122 1/11898 1/8190 0/3708
?/? c.2021+9T>C r.(=) p.(=) g.133362035A>G Copied from the Exome Variant Server TOPBP1_000121 1/11852 0/8168 1/3684
?/? c.2022-51C>T r.(=) p.(=) g.133359065G>A Copied from the Exome Variant Server TOPBP1_000120 3/6038 0/4164 3/1874
?/? c.2065A>G r.(?) p.(Met689Val) g.133358971T>C Copied from the Exome Variant Server TOPBP1_000119 1/11996 0/8234 1/3762
?/? c.2106C>T r.(=) p.(=) g.133358930G>A Copied from the Exome Variant Server TOPBP1_000118 1/12018 0/8236 1/3782
?/? c.2146G>A r.(?) p.(Val716Ile) g.133358890C>T Copied from the Exome Variant Server TOPBP1_000117 1/11922 1/8206 0/3716
?/? c.2234-39A>T r.(=) p.(=) g.133357045T>A Copied from the Exome Variant Server TOPBP1_000115 1/11824 0/8176 1/3648
?/? c.2234-34C>T r.(=) p.(=) g.133357040G>A Copied from the Exome Variant Server TOPBP1_000113 2/11818 2/8176 0/3642
?/? c.2234-11T>C r.(=) p.(=) g.133357017A>G Copied from the Exome Variant Server TOPBP1_000111 1/11830 1/8178 0/3652
?/? c.2240G>A r.(?) p.(Ser747Asn) g.133357000C>T Copied from the Exome Variant Server TOPBP1_000109 1/11890 0/8208 1/3682
?/? c.2258C>A r.(?) p.(Thr753Lys) g.133356982G>T Copied from the Exome Variant Server TOPBP1_000107 1/11942 1/8224 0/3718
?/? c.2265A>G r.(=) p.(=) g.133356975T>C Copied from the Exome Variant Server TOPBP1_000105 2/11974 0/8232 2/3742
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