All transcript variants in gene ERCC2

Information The variants shown are described using the NM_000400.3 transcript reference sequence.

265 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.5+13C>T r.(=) p.(=) g.45873781G>A Copied from the Exome Variant Server ERCC2_000264 6/12442 1/8278 5/4164
?/? c.5+45del r.(=) p.(=) g.45873749del Copied from the Exome Variant Server ERCC2_000263 124/10832 80/7372 44/3460
?/? c.5+45dup r.(=) p.(=) g.45873749dup Copied from the Exome Variant Server ERCC2_000262 24/10832 18/7372 6/3460
?/? c.6-51C>T r.(=) p.(=) g.45873541G>A Copied from the Exome Variant Server ERCC2_000261 1/13006 0/8600 1/4406
?/? c.6-36G>A r.(=) p.(=) g.45873526C>T Copied from the Exome Variant Server ERCC2_000260 1/13006 1/8600 0/4406
?/? c.6-20C>T r.(=) p.(=) g.45873510G>A Copied from the Exome Variant Server ERCC2_000259 1/13006 0/8600 1/4406
?/? c.36C>T r.(=) p.(=) g.45873460G>A Copied from the Exome Variant Server ERCC2_000258 1/13006 1/8600 0/4406
?/? c.42C>T r.(=) p.(=) g.45873454G>A Copied from the Exome Variant Server ERCC2_000257 1/13006 0/8600 1/4406
?/? c.47A>G r.(?) p.(Tyr16Cys) g.45873449T>C Copied from the Exome Variant Server ERCC2_000256 19/13006 0/8600 19/4406
?/? c.54C>T r.(=) p.(=) g.45873442G>A Copied from the Exome Variant Server ERCC2_000255 1/13006 1/8600 0/4406
?/? c.57C>G r.(=) p.(=) g.45873439G>C Copied from the Exome Variant Server ERCC2_000254 1/13006 1/8600 0/4406
?/? c.92C>T r.(?) p.(Thr31Met) g.45873404G>A Copied from the Exome Variant Server ERCC2_000253 1/13006 1/8600 0/4406
?/? c.106-34C>G r.(=) p.(=) g.45872439G>C Copied from the Exome Variant Server ERCC2_000252 2/13006 2/8600 0/4406
?/? c.106-9A>T r.(=) p.(=) g.45872414T>A Copied from the Exome Variant Server ERCC2_000251 1/13006 1/8600 0/4406
?/? c.138C>T r.(=) p.(=) g.45872373G>A Copied from the Exome Variant Server ERCC2_000250 11/13006 0/8600 11/4406
?/? c.147A>T r.(=) p.(=) g.45872364T>A Copied from the Exome Variant Server ERCC2_000249 1/13006 0/8600 1/4406
?/? c.156G>A r.(=) p.(=) g.45872355C>T Copied from the Exome Variant Server ERCC2_000248 1/13006 1/8600 0/4406
?/? c.183+21G>T r.(=) p.(=) g.45872307C>A Copied from the Exome Variant Server ERCC2_000247 1/13006 1/8600 0/4406
?/? c.184-17C>A r.(=) p.(=) g.45872267G>T Copied from the Exome Variant Server ERCC2_000246 2/13006 0/8600 2/4406
?/? c.232C>T r.(?) p.(Pro78Ser) g.45872202G>A Copied from the Exome Variant Server ERCC2_000245 1/13006 0/8600 1/4406
?/? c.246+10G>A r.(=) p.(=) g.45872178C>T Copied from the Exome Variant Server ERCC2_000244 1/13006 0/8600 1/4406
?/? c.246+44A>G r.(=) p.(=) g.45872144T>C Copied from the Exome Variant Server ERCC2_000243 5/13006 2/8600 3/4406
?/? c.246+62del r.(=) p.(=) g.45872126del Copied from the Exome Variant Server ERCC2_000242 1/12518 1/8254 0/4264
?/? c.246+66G>A r.(=) p.(=) g.45872122C>T Copied from the Exome Variant Server ERCC2_000241 17/4566 17/3182 0/1384
?/? c.247-41C>T r.(=) p.(=) g.45872042G>A Copied from the Exome Variant Server ERCC2_000240 1/12992 0/8592 1/4400
?/? c.247-39A>G r.(=) p.(=) g.45872040T>C Copied from the Exome Variant Server ERCC2_000239 2/12994 0/8594 2/4400
?/? c.247-35G>A r.(=) p.(=) g.45872036C>T Copied from the Exome Variant Server ERCC2_000238 8538/12998 4724/8594 3814/4404
?/? c.247-22C>T r.(=) p.(=) g.45872023G>A Copied from the Exome Variant Server ERCC2_000237 3/13006 0/8600 3/4406
?/? c.281A>G r.(?) p.(Tyr94Cys) g.45871967T>C Copied from the Exome Variant Server ERCC2_000236 1/13006 0/8600 1/4406
?/? c.294G>C r.(?) p.(Glu98Asp) g.45871954C>G Copied from the Exome Variant Server ERCC2_000235 1/13006 0/8600 1/4406
?/? c.308C>T r.(?) p.(Pro103Leu) g.45871940G>A Copied from the Exome Variant Server ERCC2_000234 1/13006 1/8600 0/4406
?/? c.361-25G>T r.(=) p.(=) g.45868441C>A Copied from the Exome Variant Server ERCC2_000233 8/13006 0/8600 8/4406
?/? c.361-12C>T r.(=) p.(=) g.45868428G>A Copied from the Exome Variant Server ERCC2_000232 7/13006 0/8600 7/4406
?/? c.373C>T r.(?) p.(Arg125Cys) g.45868404G>A Copied from the Exome Variant Server ERCC2_000231 1/13006 1/8600 0/4406
?/? c.417C>G r.(=) p.(=) g.45868360G>C Copied from the Exome Variant Server ERCC2_000230 38/13006 2/8600 36/4406
?/? c.424G>T r.(?) p.(Val142Leu) g.45868353C>A Copied from the Exome Variant Server ERCC2_000229 1/13006 0/8600 1/4406
?/? c.426G>A r.(=) p.(=) g.45868351C>T Copied from the Exome Variant Server ERCC2_000228 1/13006 0/8600 1/4406
?/? c.428G>A r.(?) p.(Arg143Gln) g.45868349C>T Copied from the Exome Variant Server ERCC2_000227 4/13006 4/8600 0/4406
?/? c.432G>A r.(=) p.(=) g.45868345C>T Copied from the Exome Variant Server ERCC2_000226 1/13006 1/8600 0/4406
?/? c.455T>G r.(?) p.(Leu152Arg) g.45868322A>C Copied from the Exome Variant Server ERCC2_000225 2/13006 0/8600 2/4406
?/? c.462C>G r.(?) p.(His154Gln) g.45868315G>C Copied from the Exome Variant Server ERCC2_000224 2/13006 0/8600 2/4406
?/? c.466C>T r.(?) p.(Arg156*) g.45868311G>A Copied from the Exome Variant Server ERCC2_000223 1/13006 1/8600 0/4406
?/? c.468A>C r.(=) p.(=) g.45868309T>G Copied from the Exome Variant Server ERCC2_000222 8617/13006 4803/8600 3814/4406
?/? c.473A>G r.(?) p.(Tyr158Cys) g.45868304T>C Copied from the Exome Variant Server ERCC2_000221 1/13006 0/8600 1/4406
?/? c.477+9A>C r.(=) p.(=) g.45868291T>G Copied from the Exome Variant Server ERCC2_000220 11/13006 9/8600 2/4406
?/? c.499G>C r.(?) p.(Glu167Gln) g.45868191C>G Copied from the Exome Variant Server ERCC2_000219 2/13006 2/8600 0/4406
?/? c.508C>T r.(?) p.(Leu170Phe) g.45868182G>A Copied from the Exome Variant Server ERCC2_000218 1/13006 1/8600 0/4406
?/? c.527A>G r.(?) p.(Asn176Ser) g.45868163T>C Copied from the Exome Variant Server ERCC2_000217 1/13006 1/8600 0/4406
?/? c.545C>T r.(?) p.(Ala182Val) g.45868145G>A Copied from the Exome Variant Server ERCC2_000216 3/13006 3/8600 0/4406
?/? c.553C>T r.(?) p.(Arg185Trp) g.45868137G>A Copied from the Exome Variant Server ERCC2_000215 3/13006 2/8600 1/4406
?/? c.556C>T r.(?) p.(Arg186Cys) g.45868134G>A Copied from the Exome Variant Server ERCC2_000214 1/13006 1/8600 0/4406
?/? c.564C>T r.(=) p.(=) g.45868126G>A Copied from the Exome Variant Server ERCC2_000213 1/13006 1/8600 0/4406
?/? c.567G>A r.(?) p.(Trp189*) g.45868123C>T Copied from the Exome Variant Server ERCC2_000212 1/13006 1/8600 0/4406
?/? c.571C>T r.(?) p.(Pro191Ser) g.45868119G>A Copied from the Exome Variant Server ERCC2_000211 1/13006 1/8600 0/4406
?/? c.594+2_594+5del r.spl? p.? g.45868091_45868094del Copied from the Exome Variant Server ERCC2_000210 8/12518 3/8254 5/4264
?/? c.594+16G>A r.(=) p.(=) g.45868080C>T Copied from the Exome Variant Server ERCC2_000209 1/13006 1/8600 0/4406
?/? c.594+19del r.(=) p.(=) g.45868077del Copied from the Exome Variant Server ERCC2_000208 1/12518 0/8254 1/4264
?/? c.594+28G>A r.(=) p.(=) g.45868068C>T Copied from the Exome Variant Server ERCC2_000207 2/13006 2/8600 0/4406
?/? c.595-49_595-44del r.(=) p.(=) g.45867849_45867854del Copied from the Exome Variant Server ERCC2_000206 11/12352 1/8152 10/4200
?/? c.601C>T r.(?) p.(His201Tyr) g.45867799G>A Copied from the Exome Variant Server ERCC2_000205 3/13006 3/8600 0/4406
?/? c.615G>C r.(=) p.(=) g.45867785C>G Copied from the Exome Variant Server ERCC2_000204 1/13006 1/8600 0/4406
?/? c.633C>T r.(=) p.(=) g.45867767G>A Copied from the Exome Variant Server ERCC2_000203 8/13006 0/8600 8/4406
?/? c.658C>G r.(?) p.(Leu220Val) g.45867742G>C Copied from the Exome Variant Server ERCC2_000202 2/13006 0/8600 2/4406
?/? c.679C>T r.(?) p.(Arg227Cys) g.45867721G>A Copied from the Exome Variant Server ERCC2_000201 5/13006 0/8600 5/4406
?/? c.680G>A r.(?) p.(Arg227His) g.45867720C>T Copied from the Exome Variant Server ERCC2_000200 1/13006 0/8600 1/4406
?/? c.687C>T r.(=) p.(=) g.45867713G>A Copied from the Exome Variant Server ERCC2_000199 32/13006 0/8600 32/4406
?/? c.699C>T r.(=) p.(=) g.45867701G>A Copied from the Exome Variant Server ERCC2_000198 44/13006 0/8600 44/4406
?/? c.718+6G>T r.(=) p.(=) g.45867676C>A Copied from the Exome Variant Server ERCC2_000197 497/13006 5/8600 492/4406
?/? c.718+10_718+11insG r.(=) p.(=) g.45867671_45867672insC Copied from the Exome Variant Server ERCC2_000196 7/12516 3/8254 4/4262
?/? c.719-43C>A r.(=) p.(=) g.45867632G>T Copied from the Exome Variant Server ERCC2_000195 2/13006 0/8600 2/4406
?/? c.719-33C>T r.(=) p.(=) g.45867622G>A Copied from the Exome Variant Server ERCC2_000194 1/13006 0/8600 1/4406
?/? c.719-27T>C r.(=) p.(=) g.45867616A>G Copied from the Exome Variant Server ERCC2_000193 1/13006 1/8600 0/4406
?/? c.719-15C>T r.(=) p.(=) g.45867604G>A Copied from the Exome Variant Server ERCC2_000192 1/13006 1/8600 0/4406
?/? c.740T>C r.(?) p.(Met247Thr) g.45867568A>G Copied from the Exome Variant Server ERCC2_000191 1/13006 1/8600 0/4406
?/? c.776G>A r.(?) p.(Cys259Tyr) g.45867532C>T Copied from the Exome Variant Server ERCC2_000190 1/13004 1/8600 0/4404
?/? c.798G>A r.(=) p.(=) g.45867510C>T Copied from the Exome Variant Server ERCC2_000189 1/13000 0/8598 1/4402
?/? c.815+46A>G r.(=) p.(=) g.45867447T>C Copied from the Exome Variant Server ERCC2_000188 1/12940 0/8566 1/4374
?/? c.816-49G>T r.(=) p.(=) g.45867426C>A Copied from the Exome Variant Server ERCC2_000187 2/12850 2/8532 0/4318
?/? c.816-46C>A r.(=) p.(=) g.45867423G>T Copied from the Exome Variant Server ERCC2_000186 1/12842 1/8532 0/4310
?/? c.821A>G r.(?) p.(Lys274Arg) g.45867372T>C Copied from the Exome Variant Server ERCC2_000185 1/12638 1/8426 0/4212
?/? c.844C>T r.(?) p.(Arg282Trp) g.45867349G>A Copied from the Exome Variant Server ERCC2_000184 1/12664 0/8432 1/4232
?/? c.902C>A r.(?) p.(Thr301Lys) g.45867291G>T Copied from the Exome Variant Server ERCC2_000183 2/12186 2/8114 0/4072
?/? c.912C>T r.(=) p.(=) g.45867281G>A Copied from the Exome Variant Server ERCC2_000182 1/12012 1/7978 0/4034
?/? c.934G>A r.(?) p.(Asp312Asn) g.45867259C>T Copied from the Exome Variant Server ERCC2_000181 2894/11868 2507/7904 387/3964
?/? c.949+27_949+28insC r.(=) p.(=) g.45867216_45867217insG Copied from the Exome Variant Server ERCC2_000179 3719/10694 1243/7192 2476/3502
?/? c.949+27_949+28insCC r.(=) p.(=) g.45867216_45867217insGG Copied from the Exome Variant Server ERCC2_000180 22/10694 11/7192 11/3502
?/? c.957G>A r.(=) p.(=) g.45867162C>T Copied from the Exome Variant Server ERCC2_000178 1/12812 0/8482 1/4330
?/? c.988C>T r.(=) p.(=) g.45867131G>A Copied from the Exome Variant Server ERCC2_000177 2/12878 1/8510 1/4368
?/? c.1090C>T r.(?) p.(Arg364Cys) g.45867029G>A Copied from the Exome Variant Server ERCC2_000176 1/12332 0/8162 1/4170
?/? c.1118+17C>T r.(=) p.(=) g.45866984G>A Copied from the Exome Variant Server ERCC2_000175 4/10264 3/6862 1/3402
?/? c.1118+19C>T r.(=) p.(=) g.45866982G>A Copied from the Exome Variant Server ERCC2_000174 1/10048 0/6740 1/3308
?/? c.1119-35G>A r.(=) p.(=) g.45864935C>T Copied from the Exome Variant Server ERCC2_000173 2/13006 1/8600 1/4406
?/? c.1119-25_1119-24insC r.(=) p.(=) g.45864924_45864925insG Copied from the Exome Variant Server ERCC2_000172 240/12518 7/8254 233/4264
?/? c.1119-6C>T r.(=) p.(=) g.45864906G>A Copied from the Exome Variant Server ERCC2_000171 2/13006 1/8600 1/4406
?/? c.1119-5G>A r.spl? p.? g.45864905C>T Copied from the Exome Variant Server ERCC2_000170 7/13006 5/8600 2/4406
?/? c.1119-3C>T r.spl? p.? g.45864903G>A Copied from the Exome Variant Server ERCC2_000169 2/13006 2/8600 0/4406
?/? c.1146G>C r.(=) p.(=) g.45864873C>G Copied from the Exome Variant Server ERCC2_000168 1/13006 1/8600 0/4406
?/? c.1168G>A r.(?) p.(Asp390Asn) g.45864851C>T Copied from the Exome Variant Server ERCC2_000167 1/13006 0/8600 1/4406
?/? c.1182C>G r.(?) p.(Phe394Leu) g.45864837G>C Copied from the Exome Variant Server ERCC2_000166 1/13006 1/8600 0/4406
?/? c.1230C>T r.(=) p.(=) g.45864789G>A Copied from the Exome Variant Server ERCC2_000165 2/13006 1/8600 1/4406
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