Full data view for gene TP53BP1

Information The variants shown are described using the NM_001141979.1 transcript reference sequence.

280 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-33C>G r.(=) p.(=) g.43785274G>C Copied from the Exome Variant Server TP53BP1_000280 2/10292 1/7160 1/3132 - - - - - - -
?/? c.-7C>T r.(=) p.(=) g.43785248G>A Copied from the Exome Variant Server TP53BP1_000279 9/10292 9/7160 0/3132 - - - - - - -
?/? c.-3G>A r.(=) p.(=) g.43785244C>T Copied from the Exome Variant Server TP53BP1_000278 1/10292 0/7160 1/3132 - - - - - - -
?/? c.7+4C>T r.spl? p.? g.43785231G>A Copied from the Exome Variant Server TP53BP1_000277 1/10292 1/7160 0/3132 - - - - - - -
?/? c.7+33G>A r.(=) p.(=) g.43785202C>T Copied from the Exome Variant Server TP53BP1_000276 1/10292 0/7160 1/3132 - - - - - - -
?/? c.7+74del r.(=) p.(=) g.43785161del Copied from the Exome Variant Server TP53BP1_000275 3/10426 1/7074 2/3352 - - - - - - -
?/? c.69T>A r.(=) p.(=) g.43784605A>T Copied from the Exome Variant Server TP53BP1_000274 1/12998 0/8596 1/4402 - - - - - - -
?/? c.87T>G r.(?) p.(Asp29Glu) g.43784587A>C Copied from the Exome Variant Server TP53BP1_000273 1/12998 1/8596 0/4402 - - - - - - -
?/? c.89C>G r.(?) p.(Ser30Cys) g.43784585G>C Copied from the Exome Variant Server TP53BP1_000272 1/12998 0/8596 1/4402 - - - - - - -
?/? c.160A>G r.(?) p.(Asn54Asp) g.43784514T>C Copied from the Exome Variant Server TP53BP1_000271 1/12998 0/8596 1/4402 - - - - - - -
?/? c.192+7G>A r.(=) p.(=) g.43784475C>T Copied from the Exome Variant Server TP53BP1_000270 3517/12998 936/8596 2581/4402 - - - - - - -
?/? c.192+22G>A r.(=) p.(=) g.43784460C>T Copied from the Exome Variant Server TP53BP1_000269 1/12998 1/8596 0/4402 - - - - - - -
?/? c.192+27T>C r.(=) p.(=) g.43784455A>G Copied from the Exome Variant Server TP53BP1_000268 3/12998 1/8596 2/4402 - - - - - - -
?/? c.192+46del r.(=) p.(=) g.43784436del Copied from the Exome Variant Server TP53BP1_000267 238/12508 151/8250 87/4258 - - - - - - -
?/? c.192+46dup r.(=) p.(=) g.43784436dup Copied from the Exome Variant Server TP53BP1_000266 2958/12508 919/8250 2039/4258 - - - - - - -
?/? c.193-9A>G r.(=) p.(=) g.43784302T>C Copied from the Exome Variant Server TP53BP1_000265 1/12998 1/8596 0/4402 - - - - - - -
?/? c.193-4C>G r.spl? p.? g.43784297G>C Copied from the Exome Variant Server TP53BP1_000264 1/12998 0/8596 1/4402 - - - - - - -
?/? c.198T>A r.(=) p.(=) g.43784288A>T Copied from the Exome Variant Server TP53BP1_000263 1/12998 1/8596 0/4402 - - - - - - -
?/? c.232C>G r.(?) p.(Arg78Gly) g.43784254G>C Copied from the Exome Variant Server TP53BP1_000262 1/12998 1/8596 0/4402 - - - - - - -
?/? c.242del r.(?) p.(Gly81Valfs*9) g.43784244del Copied from the Exome Variant Server TP53BP1_000261 1/12516 1/8252 0/4264 - - - - - - -
?/? c.286+11T>C r.(=) p.(=) g.43784189A>G Copied from the Exome Variant Server TP53BP1_000260 10/12998 9/8596 1/4402 - - - - - - -
?/? c.286+20C>T r.(=) p.(=) g.43784180G>A Copied from the Exome Variant Server TP53BP1_000259 7/12998 6/8596 1/4402 - - - - - - -
?/? c.286+27C>G r.(=) p.(=) g.43784173G>C Copied from the Exome Variant Server TP53BP1_000258 1/12998 0/8596 1/4402 - - - - - - -
?/? c.287-49G>A r.(=) p.(=) g.43784000C>T Copied from the Exome Variant Server TP53BP1_000257 12485/12998 8591/8596 3894/4402 - - - - - - -
?/? c.287-24C>G r.(=) p.(=) g.43783975G>C Copied from the Exome Variant Server TP53BP1_000256 2/12998 2/8596 0/4402 - - - - - - -
?/? c.306C>G r.(?) p.(Asn102Lys) g.43783932G>C Copied from the Exome Variant Server TP53BP1_000255 1/12998 1/8596 0/4402 - - - - - - -
?/? c.312C>T r.(=) p.(=) g.43783926G>A Copied from the Exome Variant Server TP53BP1_000254 1/12998 1/8596 0/4402 - - - - - - -
?/? c.371+41G>C r.(=) p.(=) g.43783826C>G Copied from the Exome Variant Server TP53BP1_000253 1/12998 1/8596 0/4402 - - - - - - -
?/? c.372-28C>T r.(=) p.(=) g.43773248G>A Copied from the Exome Variant Server TP53BP1_000252 4/12998 4/8596 0/4402 - - - - - - -
?/? c.372-27A>G r.(=) p.(=) g.43773247T>C Copied from the Exome Variant Server TP53BP1_000251 1/12998 0/8596 1/4402 - - - - - - -
?/? c.372-14C>G r.(=) p.(=) g.43773234G>C Copied from the Exome Variant Server TP53BP1_000250 2/12998 0/8596 2/4402 - - - - - - -
?/? c.372-8_372-6del r.(=) p.(=) g.43773226_43773228del Copied from the Exome Variant Server TP53BP1_000249 7/12502 0/8244 7/4258 - - - - - - -
?/? c.372-5T>C r.spl? p.? g.43773225A>G Copied from the Exome Variant Server TP53BP1_000248 15/12998 0/8596 15/4402 - - - - - - -
?/? c.456A>G r.(=) p.(=) g.43773136T>C Copied from the Exome Variant Server TP53BP1_000247 1/12998 1/8596 0/4402 - - - - - - -
?/? c.477T>C r.(=) p.(=) g.43773115A>G Copied from the Exome Variant Server TP53BP1_000246 1/12998 0/8596 1/4402 - - - - - - -
?/? c.499+4G>T r.spl? p.? g.43773089C>A Copied from the Exome Variant Server TP53BP1_000245 1/12998 0/8596 1/4402 - - - - - - -
?/? c.499+41T>C r.(=) p.(=) g.43773052A>G Copied from the Exome Variant Server TP53BP1_000244 1/12998 1/8596 0/4402 - - - - - - -
?/? c.499+46T>G r.(=) p.(=) g.43773047A>C Copied from the Exome Variant Server TP53BP1_000243 1/12998 0/8596 1/4402 - - - - - - -
?/? c.500-35G>A r.(=) p.(=) g.43772250C>T Copied from the Exome Variant Server TP53BP1_000242 5/12998 0/8596 5/4402 - - - - - - -
?/? c.537A>G r.(=) p.(=) g.43772178T>C Copied from the Exome Variant Server TP53BP1_000241 1/12998 0/8596 1/4402 - - - - - - -
?/? c.633G>C r.(?) p.(Arg211Ser) g.43772082C>G Copied from the Exome Variant Server TP53BP1_000240 4/12998 4/8596 0/4402 - - - - - - -
?/? c.658+47A>G r.(=) p.(=) g.43772010T>C Copied from the Exome Variant Server TP53BP1_000239 2/12998 1/8596 1/4402 - - - - - - -
?/? c.689A>C r.(?) p.(Asp230Ala) g.43771694T>G Copied from the Exome Variant Server TP53BP1_000238 5/12998 0/8596 5/4402 - - - - - - -
?/? c.711C>T r.(=) p.(=) g.43771672G>A Copied from the Exome Variant Server TP53BP1_000237 1/12998 1/8596 0/4402 - - - - - - -
?/? c.717G>C r.(?) p.(Lys239Asn) g.43771666C>G Copied from the Exome Variant Server TP53BP1_000236 1/12998 0/8596 1/4402 - - - - - - -
?/? c.743G>A r.(?) p.(Ser248Asn) g.43771640C>T Copied from the Exome Variant Server TP53BP1_000235 1/12998 1/8596 0/4402 - - - - - - -
?/? c.788+7C>T r.(=) p.(=) g.43771588G>A Copied from the Exome Variant Server TP53BP1_000234 1/12998 1/8596 0/4402 - - - - - - -
?/? c.788+30G>A r.(=) p.(=) g.43771565C>T Copied from the Exome Variant Server TP53BP1_000233 1/12998 1/8596 0/4402 - - - - - - -
?/? c.789-45A>G r.(=) p.(=) g.43770002T>C Copied from the Exome Variant Server TP53BP1_000232 1/12992 1/8596 0/4396 - - - - - - -
?/? c.789-21C>T r.(=) p.(=) g.43769978G>A Copied from the Exome Variant Server TP53BP1_000231 1/12998 1/8596 0/4402 - - - - - - -
?/? c.815A>G r.(?) p.(Lys272Arg) g.43769931T>C Copied from the Exome Variant Server TP53BP1_000230 2/12998 2/8596 0/4402 - - - - - - -
?/? c.832A>G r.(?) p.(Met278Val) g.43769914T>C Copied from the Exome Variant Server TP53BP1_000229 1/12998 1/8596 0/4402 - - - - - - -
?/? c.869T>C r.(?) p.(Met290Thr) g.43769877A>G Copied from the Exome Variant Server TP53BP1_000228 1/12998 0/8596 1/4402 - - - - - - -
?/? c.895T>C r.(?) p.(Ser299Pro) g.43769851A>G Copied from the Exome Variant Server TP53BP1_000227 83/12998 77/8596 6/4402 - - - - - - -
?/? c.923A>G r.(?) p.(Gln308Arg) g.43769823T>C Copied from the Exome Variant Server TP53BP1_000226 2/12998 2/8596 0/4402 - - - - - - -
?/? c.955+19C>T r.(=) p.(=) g.43769772G>A Copied from the Exome Variant Server TP53BP1_000225 3/12998 3/8596 0/4402 - - - - - - -
?/? c.956-43T>G r.(=) p.(=) g.43767935A>C Copied from the Exome Variant Server TP53BP1_000224 5/12998 0/8596 5/4402 - - - - - - -
?/? c.956-42A>C r.(=) p.(=) g.43767934T>G Copied from the Exome Variant Server TP53BP1_000223 2/12998 0/8596 2/4402 - - - - - - -
?/? c.956-41G>A r.(=) p.(=) g.43767933C>T Copied from the Exome Variant Server TP53BP1_000222 1/12998 0/8596 1/4402 - - - - - - -
?/? c.956-30A>C r.(=) p.(=) g.43767922T>G Copied from the Exome Variant Server TP53BP1_000221 1/12998 0/8596 1/4402 - - - - - - -
?/? c.974C>G r.(?) p.(Ser325Cys) g.43767874G>C Copied from the Exome Variant Server TP53BP1_000220 21/12998 3/8596 18/4402 - - - - - - -
?/? c.987G>A r.(=) p.(=) g.43767861C>T Copied from the Exome Variant Server TP53BP1_000219 36/12998 0/8596 36/4402 - - - - - - -
?/? c.1029T>A r.(=) p.(=) g.43767819A>T Copied from the Exome Variant Server TP53BP1_000218 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1055A>G r.(?) p.(Gln352Arg) g.43767793T>C Copied from the Exome Variant Server TP53BP1_000217 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1074C>G r.(?) p.(Asp358Glu) g.43767774G>C Copied from the Exome Variant Server TP53BP1_000216 6344/12998 2604/8596 3740/4402 - - - - - - -
?/? c.1085C>T r.(?) p.(Thr362Met) g.43767763G>A Copied from the Exome Variant Server TP53BP1_000215 14/12998 0/8596 14/4402 - - - - - - -
?/? c.1176A>G r.(=) p.(=) g.43766875T>C Copied from the Exome Variant Server TP53BP1_000214 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1180+16C>T r.(=) p.(=) g.43766855G>A Copied from the Exome Variant Server TP53BP1_000213 2/12998 2/8596 0/4402 - - - - - - -
?/? c.1180+24T>C r.(=) p.(=) g.43766847A>G Copied from the Exome Variant Server TP53BP1_000212 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1220_1222del r.(?) p.(Gly407del) g.43762223_43762225del Copied from the Exome Variant Server TP53BP1_000211 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1249G>A r.(?) p.(Gly417Ser) g.43762196C>T Copied from the Exome Variant Server TP53BP1_000210 3745/12998 971/8596 2774/4402 - - - - - - -
?/? c.1263G>A r.(=) p.(=) g.43762182C>T Copied from the Exome Variant Server TP53BP1_000209 46/12998 0/8596 46/4402 - - - - - - -
?/? c.1276C>T r.(?) p.(Pro426Ser) g.43762169G>A Copied from the Exome Variant Server TP53BP1_000208 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1290G>A r.(=) p.(=) g.43762155C>T Copied from the Exome Variant Server TP53BP1_000207 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1292C>G r.(?) p.(Ser431Cys) g.43762153G>C Copied from the Exome Variant Server TP53BP1_000206 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1366C>G r.(?) p.(Pro456Ala) g.43762079G>C Copied from the Exome Variant Server TP53BP1_000205 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1362_1367del r.(?) p.(Ile455_Pro456del) g.43762078_43762083del Copied from the Exome Variant Server TP53BP1_000204 87/12518 79/8254 8/4264 - - - - - - -
?/? c.1389+26C>G r.(=) p.(=) g.43762030G>C Copied from the Exome Variant Server TP53BP1_000203 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1407C>T r.(=) p.(=) g.43749399G>A Copied from the Exome Variant Server TP53BP1_000202 2/12998 0/8596 2/4402 - - - - - - -
?/? c.1416G>T r.(=) p.(=) g.43749390C>A Copied from the Exome Variant Server TP53BP1_000201 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1454T>G r.(?) p.(Met485Arg) g.43749352A>C Copied from the Exome Variant Server TP53BP1_000200 2/12998 1/8596 1/4402 - - - - - - -
?/? c.1469T>C r.(?) p.(Leu490Ser) g.43749337A>G Copied from the Exome Variant Server TP53BP1_000199 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1474G>A r.(?) p.(Val492Ile) g.43749332C>T Copied from the Exome Variant Server TP53BP1_000198 19/12998 19/8596 0/4402 - - - - - - -
?/? c.1475T>C r.(?) p.(Val492Ala) g.43749331A>G Copied from the Exome Variant Server TP53BP1_000197 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1496A>T r.(?) p.(Glu499Val) g.43749310T>A Copied from the Exome Variant Server TP53BP1_000196 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1516C>T r.(?) p.(Pro506Ser) g.43749290G>A Copied from the Exome Variant Server TP53BP1_000195 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1533A>G r.(=) p.(=) g.43749273T>C Copied from the Exome Variant Server TP53BP1_000194 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1561A>T r.(?) p.(Met521Leu) g.43749245T>A Copied from the Exome Variant Server TP53BP1_000193 2/12998 2/8596 0/4402 - - - - - - -
?/? c.1590C>T r.(=) p.(=) g.43749216G>A Copied from the Exome Variant Server TP53BP1_000192 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1653G>A r.(=) p.(=) g.43749153C>T Copied from the Exome Variant Server TP53BP1_000191 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1654G>T r.(?) p.(Asp552Tyr) g.43749152C>A Copied from the Exome Variant Server TP53BP1_000190 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1657A>G r.(?) p.(Thr553Ala) g.43749149T>C Copied from the Exome Variant Server TP53BP1_000189 127/12998 1/8596 126/4402 - - - - - - -
?/? c.1659G>A r.(=) p.(=) g.43749147C>T Copied from the Exome Variant Server TP53BP1_000188 2/12998 0/8596 2/4402 - - - - - - -
?/? c.1712G>A r.(?) p.(Ser571Asn) g.43749094C>T Copied from the Exome Variant Server TP53BP1_000187 2/12998 2/8596 0/4402 - - - - - - -
?/? c.1727C>T r.(?) p.(Pro576Leu) g.43749079G>A Copied from the Exome Variant Server TP53BP1_000186 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1769A>G r.(?) p.(Lys590Arg) g.43749037T>C Copied from the Exome Variant Server TP53BP1_000185 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1813T>A r.(?) p.(Leu605Ile) g.43748993A>T Copied from the Exome Variant Server TP53BP1_000184 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1844C>T r.(?) p.(Thr615Met) g.43748962G>A Copied from the Exome Variant Server TP53BP1_000183 36/12998 26/8596 10/4402 - - - - - - -
?/? c.1875T>A r.(=) p.(=) g.43748931A>T Copied from the Exome Variant Server TP53BP1_000182 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1916G>A r.(?) p.(Arg639Gln) g.43748890C>T Copied from the Exome Variant Server TP53BP1_000181 3/12998 3/8596 0/4402 - - - - - - -
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