All transcript variants in gene CKAP5

Information The variants shown are described using the NM_014756.3 transcript reference sequence.

259 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.-37-22G>T r.(=) p.(=) g.46842841C>A Copied from the Exome Variant Server CKAP5_000259 733/4566 297/3182 436/1384
?/? c.-33T>A r.(=) p.(=) g.46842815A>T Copied from the Exome Variant Server CKAP5_000258 1/13000 0/8598 1/4402
?/? c.23T>C r.(?) p.(Leu8Ser) g.46842760A>G Copied from the Exome Variant Server CKAP5_000257 1/13000 1/8598 0/4402
?/? c.57+34G>A r.(=) p.(=) g.46842692C>T Copied from the Exome Variant Server CKAP5_000256 24/13000 22/8598 2/4402
?/? c.57+39C>T r.(=) p.(=) g.46842687G>A Copied from the Exome Variant Server CKAP5_000255 1/13000 1/8598 0/4402
?/? c.57+57A>G r.(=) p.(=) g.46842669T>C Copied from the Exome Variant Server CKAP5_000254 12/4566 12/3182 0/1384
?/? c.67G>A r.(?) p.(Ala23Thr) g.46840045C>T Copied from the Exome Variant Server CKAP5_000253 2/13000 2/8598 0/4402
?/? c.154T>C r.(=) p.(=) g.46839958A>G Copied from the Exome Variant Server CKAP5_000252 1/13000 0/8598 1/4402
?/? c.156G>A r.(=) p.(=) g.46839956C>T Copied from the Exome Variant Server CKAP5_000251 9/13000 0/8598 9/4402
?/? c.240T>C r.(=) p.(=) g.46839872A>G Copied from the Exome Variant Server CKAP5_000250 2/13000 0/8598 2/4402
?/? c.251+30A>G r.(=) p.(=) g.46839831T>C Copied from the Exome Variant Server CKAP5_000249 2/12998 2/8598 0/4400
?/? c.251+38_251+39del r.(=) p.(=) g.46839822_46839823del Copied from the Exome Variant Server CKAP5_000248 1/12512 1/8252 0/4260
?/? c.274G>A r.(?) p.(Gly92Ser) g.46837933C>T Copied from the Exome Variant Server CKAP5_000247 3/13000 0/8598 3/4402
?/? c.275G>T r.(?) p.(Gly92Val) g.46837932C>A Copied from the Exome Variant Server CKAP5_000246 4/13000 4/8598 0/4402
?/? c.277G>A r.(?) p.(Val93Ile) g.46837930C>T Copied from the Exome Variant Server CKAP5_000245 24/13000 1/8598 23/4402
?/? c.332A>T r.(?) p.(Glu111Val) g.46837875T>A Copied from the Exome Variant Server CKAP5_000244 2/13000 2/8598 0/4402
?/? c.338G>T r.(?) p.(Cys113Phe) g.46837869C>A Copied from the Exome Variant Server CKAP5_000243 1/13000 0/8598 1/4402
?/? c.346T>A r.(?) p.(Tyr116Asn) g.46837861A>T Copied from the Exome Variant Server CKAP5_000242 1/13000 1/8598 0/4402
?/? c.421A>G r.(?) p.(Ile141Val) g.46837786T>C Copied from the Exome Variant Server CKAP5_000241 1/13000 1/8598 0/4402
?/? c.446G>A r.(?) p.(Arg149Lys) g.46837761C>T Copied from the Exome Variant Server CKAP5_000240 1/13000 0/8598 1/4402
?/? c.455T>C r.(?) p.(Leu152Ser) g.46837752A>G Copied from the Exome Variant Server CKAP5_000239 1/13000 0/8598 1/4402
?/? c.459-36C>T r.(=) p.(=) g.46832764G>A Copied from the Exome Variant Server CKAP5_000238 2/13000 2/8598 0/4402
?/? c.459-33G>A r.(=) p.(=) g.46832761C>T Copied from the Exome Variant Server CKAP5_000237 1/13000 1/8598 0/4402
?/? c.471C>T r.(=) p.(=) g.46832716G>A Copied from the Exome Variant Server CKAP5_000236 2/13000 2/8598 0/4402
?/? c.493A>G r.(?) p.(Ile165Val) g.46832694T>C Copied from the Exome Variant Server CKAP5_000235 1/13000 0/8598 1/4402
?/? c.535G>C r.(?) p.(Ala179Pro) g.46832652C>G Copied from the Exome Variant Server CKAP5_000234 1/13000 1/8598 0/4402
?/? c.587G>A r.(?) p.(Arg196Gln) g.46832600C>T Copied from the Exome Variant Server CKAP5_000233 1/13000 0/8598 1/4402
?/? c.602C>T r.(?) p.(Pro201Leu) g.46832585G>A Copied from the Exome Variant Server CKAP5_000232 1/13000 1/8598 0/4402
?/? c.606A>G r.(=) p.(=) g.46832581T>C Copied from the Exome Variant Server CKAP5_000231 7/13000 0/8598 7/4402
?/? c.617T>C r.(?) p.(Ile206Thr) g.46832570A>G Copied from the Exome Variant Server CKAP5_000230 1/13000 1/8598 0/4402
?/? c.630G>T r.(?) p.(Gln210His) g.46832557C>A Copied from the Exome Variant Server CKAP5_000229 1/13000 1/8598 0/4402
?/? c.630+29C>T r.(=) p.(=) g.46832528G>A Copied from the Exome Variant Server CKAP5_000228 1/13000 1/8598 0/4402
?/? c.630+32A>G r.(=) p.(=) g.46832525T>C Copied from the Exome Variant Server CKAP5_000227 1/12998 1/8596 0/4402
?/? c.631-37A>G r.(=) p.(=) g.46831461T>C Copied from the Exome Variant Server CKAP5_000226 2/13000 0/8598 2/4402
?/? c.672T>C r.(=) p.(=) g.46831383A>G Copied from the Exome Variant Server CKAP5_000225 1/13000 1/8598 0/4402
?/? c.698G>A r.(?) p.(Arg233His) g.46831357C>T Copied from the Exome Variant Server CKAP5_000224 1/13000 1/8598 0/4402
?/? c.721A>C r.(?) p.(Lys241Gln) g.46831334T>G Copied from the Exome Variant Server CKAP5_000222 1/13000 0/8598 1/4402
?/? c.735_737del r.(?) p.(Gln246del) g.46831318_46831320del Copied from the Exome Variant Server CKAP5_000220 211/12516 150/8252 61/4264
?/? c.764G>A r.(?) p.(Gly255Asp) g.46831050C>T Copied from the Exome Variant Server CKAP5_000218 1/13000 1/8598 0/4402
?/? c.865-46C>T r.(=) p.(=) g.46829740G>A Copied from the Exome Variant Server CKAP5_000216 1/12996 1/8594 0/4402
?/? c.865-30G>A r.(=) p.(=) g.46829724C>T Copied from the Exome Variant Server CKAP5_000214 53/13000 1/8598 52/4402
?/? c.978+35del r.(=) p.(=) g.46829546del Copied from the Exome Variant Server CKAP5_000212 1/12518 0/8254 1/4264
?/? c.1083+4A>C r.spl? p.? g.46822746T>G Copied from the Exome Variant Server CKAP5_000223 1/13000 0/8598 1/4402
?/? c.1083+20del r.(=) p.(=) g.46822730del Copied from the Exome Variant Server CKAP5_000221 1/12518 0/8254 1/4264
?/? c.1084-46A>T r.(=) p.(=) g.46819768T>A Copied from the Exome Variant Server CKAP5_000219 1/13000 0/8598 1/4402
?/? c.1112A>G r.(?) p.(Lys371Arg) g.46819694T>C Copied from the Exome Variant Server CKAP5_000217 1/13000 0/8598 1/4402
?/? c.1173+37G>A r.(=) p.(=) g.46819596C>T Copied from the Exome Variant Server CKAP5_000215 1/13000 0/8598 1/4402
?/? c.1173+39A>G r.(=) p.(=) g.46819594T>C Copied from the Exome Variant Server CKAP5_000213 1/13000 1/8598 0/4402
?/? c.1174-33A>G r.(=) p.(=) g.46819552T>C Copied from the Exome Variant Server CKAP5_000211 1/13000 1/8598 0/4402
?/? c.1174-18C>T r.(=) p.(=) g.46819537G>A Copied from the Exome Variant Server CKAP5_000210 2/13000 0/8598 2/4402
?/? c.1242G>A r.(=) p.(=) g.46819451C>T Copied from the Exome Variant Server CKAP5_000209 1/13000 1/8598 0/4402
?/? c.1338+26del r.(=) p.(=) g.46819329del Copied from the Exome Variant Server CKAP5_000208 7/12518 5/8254 2/4264
?/? c.1338+36T>C r.(=) p.(=) g.46819319A>G Copied from the Exome Variant Server CKAP5_000207 1/13000 1/8598 0/4402
?/? c.1339-34C>T r.(=) p.(=) g.46818524G>A Copied from the Exome Variant Server CKAP5_000206 102/13000 0/8598 102/4402
?/? c.1339-26T>C r.(=) p.(=) g.46818516A>G Copied from the Exome Variant Server CKAP5_000205 1/13000 1/8598 0/4402
?/? c.1339-18C>T r.(=) p.(=) g.46818508G>A Copied from the Exome Variant Server CKAP5_000204 106/13000 94/8598 12/4402
?/? c.1374C>T r.(=) p.(=) g.46818455G>A Copied from the Exome Variant Server CKAP5_000203 9/13000 0/8598 9/4402
?/? c.1375G>A r.(?) p.(Ala459Thr) g.46818454C>T Copied from the Exome Variant Server CKAP5_000202 1/13000 1/8598 0/4402
?/? c.1467+41C>A r.(=) p.(=) g.46818321G>T Copied from the Exome Variant Server CKAP5_000201 1/13000 0/8598 1/4402
?/? c.1467+47C>G r.(=) p.(=) g.46818315G>C Copied from the Exome Variant Server CKAP5_000200 1/13000 1/8598 0/4402
?/? c.1471A>G r.(?) p.(Lys491Glu) g.46817323T>C Copied from the Exome Variant Server CKAP5_000199 5/13000 0/8598 5/4402
?/? c.1501C>A r.(?) p.(His501Asn) g.46817293G>T Copied from the Exome Variant Server CKAP5_000198 1/13000 1/8598 0/4402
?/? c.1506T>G r.(=) p.(=) g.46817288A>C Copied from the Exome Variant Server CKAP5_000197 1/13000 0/8598 1/4402
?/? c.1559G>C r.(?) p.(Arg520Thr) g.46817235C>G Copied from the Exome Variant Server CKAP5_000196 1/13000 0/8598 1/4402
?/? c.1629A>G r.(=) p.(=) g.46817165T>C Copied from the Exome Variant Server CKAP5_000195 1/13000 1/8598 0/4402
?/? c.1650+21T>C r.(=) p.(=) g.46817123A>G Copied from the Exome Variant Server CKAP5_000194 6/13000 0/8598 6/4402
?/? c.1650+41T>C r.(=) p.(=) g.46817103A>G Copied from the Exome Variant Server CKAP5_000193 1/13000 1/8598 0/4402
?/? c.1651-30T>C r.(=) p.(=) g.46812163A>G Copied from the Exome Variant Server CKAP5_000192 1/12992 1/8598 0/4394
?/? c.1651-9T>G r.(=) p.(=) g.46812142A>C Copied from the Exome Variant Server CKAP5_000191 26/13000 0/8598 26/4402
?/? c.1662A>G r.(=) p.(=) g.46812122T>C Copied from the Exome Variant Server CKAP5_000190 112/13000 100/8598 12/4402
?/? c.1678C>G r.(?) p.(Pro560Ala) g.46812106G>C Copied from the Exome Variant Server CKAP5_000189 3/13000 0/8598 3/4402
?/? c.1691G>C r.(?) p.(Gly564Ala) g.46812093C>G Copied from the Exome Variant Server CKAP5_000188 1/13000 0/8598 1/4402
?/? c.1750G>A r.(?) p.(Glu584Lys) g.46812034C>T Copied from the Exome Variant Server CKAP5_000187 1/13000 0/8598 1/4402
?/? c.1764+36C>T r.(=) p.(=) g.46811984G>A Copied from the Exome Variant Server CKAP5_000186 1/13000 1/8598 0/4402
?/? c.1764+41C>G r.(=) p.(=) g.46811979G>C Copied from the Exome Variant Server CKAP5_000185 1/13000 0/8598 1/4402
?/? c.1764+49G>A r.(=) p.(=) g.46811971C>T Copied from the Exome Variant Server CKAP5_000184 1/13000 1/8598 0/4402
?/? c.1852G>A r.(?) p.(Ala618Thr) g.46811649C>T Copied from the Exome Variant Server CKAP5_000183 1/13000 0/8598 1/4402
?/? c.1875+13G>A r.(=) p.(=) g.46811613C>T Copied from the Exome Variant Server CKAP5_000182 33/13000 31/8598 2/4402
?/? c.1876-53del r.(=) p.(=) g.46810376del Copied from the Exome Variant Server CKAP5_000181 4/12518 4/8254 0/4264
?/? c.1876-41C>T r.(=) p.(=) g.46810364G>A Copied from the Exome Variant Server CKAP5_000180 54/13000 1/8598 53/4402
?/? c.1876-26C>G r.(=) p.(=) g.46810349G>C Copied from the Exome Variant Server CKAP5_000179 1/13000 1/8598 0/4402
?/? c.1957A>G r.(?) p.(Thr653Ala) g.46810242T>C Copied from the Exome Variant Server CKAP5_000178 1/13000 0/8598 1/4402
?/? c.1968+31T>C r.(=) p.(=) g.46810200A>G Copied from the Exome Variant Server CKAP5_000177 1/13000 0/8598 1/4402
?/? c.1969-48_1969-45del r.(=) p.(=) g.46806268_46806271del Copied from the Exome Variant Server CKAP5_000176 3/12514 3/8252 0/4262
?/? c.1969-26G>C r.(=) p.(=) g.46806249C>G Copied from the Exome Variant Server CKAP5_000175 1/13000 0/8598 1/4402
?/? c.2097A>G r.(=) p.(=) g.46806095T>C Copied from the Exome Variant Server CKAP5_000174 1/13000 1/8598 0/4402
?/? c.2121C>T r.(=) p.(=) g.46806071G>A Copied from the Exome Variant Server CKAP5_000173 74/13000 65/8598 9/4402
?/? c.2122G>A r.(?) p.(Glu708Lys) g.46806070C>T Copied from the Exome Variant Server CKAP5_000171 1/13000 1/8598 0/4402
?/? c.2155-38C>T r.(=) p.(=) g.46804956G>A Copied from the Exome Variant Server CKAP5_000169 1/12998 0/8598 1/4400
?/? c.2155-13T>C r.(=) p.(=) g.46804931A>G Copied from the Exome Variant Server CKAP5_000166 4/13000 1/8598 3/4402
?/? c.2169T>C r.(=) p.(=) g.46804904A>G Copied from the Exome Variant Server CKAP5_000164 1/13000 1/8598 0/4402
?/? c.2211T>C r.(=) p.(=) g.46804862A>G Copied from the Exome Variant Server CKAP5_000162 2/13000 0/8598 2/4402
?/? c.2227A>G r.(?) p.(Ile743Val) g.46804846T>C Copied from the Exome Variant Server CKAP5_000172 1/13000 0/8598 1/4402
?/? c.2249+8A>C r.(=) p.(=) g.46804816T>G Copied from the Exome Variant Server CKAP5_000170 2/12998 1/8596 1/4402
?/? c.2249+12C>T r.(=) p.(=) g.46804812G>A Copied from the Exome Variant Server CKAP5_000168 1/12998 1/8596 0/4402
?/? c.2249+13G>A r.(=) p.(=) g.46804811C>T Copied from the Exome Variant Server CKAP5_000167 1/12998 0/8596 1/4402
?/? c.2249+37T>G r.(=) p.(=) g.46804787A>C Copied from the Exome Variant Server CKAP5_000165 1/12992 1/8596 0/4396
?/? c.2250-59G>T r.(=) p.(=) g.46802094C>A Copied from the Exome Variant Server CKAP5_000163 4450/4566 3181/3182 1269/1384
?/? c.2250-53_2250-50del r.(=) p.(=) g.46802085_46802088del Copied from the Exome Variant Server CKAP5_000161 27/12506 26/8246 1/4260
?/? c.2307+20T>C r.(=) p.(=) g.46801958A>G Copied from the Exome Variant Server CKAP5_000160 1/13000 1/8598 0/4402
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