All transcript variants in gene ABCC12

Information The variants shown are described using the NM_033226.2 transcript reference sequence.

331 entries on 4 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.8G>A r.(?) p.(Gly3Asp) g.48180328C>T Copied from the Exome Variant Server ABCC12_000331 1/13002 1/8600 0/4402
?/? c.12A>G r.(=) p.(=) g.48180324T>C Copied from the Exome Variant Server ABCC12_000330 1/13002 0/8600 1/4402
?/? c.25A>C r.(?) p.(Ile9Leu) g.48180311T>G Copied from the Exome Variant Server ABCC12_000329 484/13002 7/8600 477/4402
?/? c.49C>T r.(?) p.(Arg17Trp) g.48180287G>A Copied from the Exome Variant Server ABCC12_000328 5/13002 5/8600 0/4402
?/? c.50G>A r.(?) p.(Arg17Gln) g.48180286C>T Copied from the Exome Variant Server ABCC12_000327 1/13002 0/8600 1/4402
?/? c.52C>T r.(?) p.(Arg18Trp) g.48180284G>A Copied from the Exome Variant Server ABCC12_000326 1/13002 1/8600 0/4402
?/? c.69A>G r.(=) p.(=) g.48180267T>C Copied from the Exome Variant Server ABCC12_000325 484/13002 7/8600 477/4402
?/? c.76G>A r.(?) p.(Asp26Asn) g.48180260C>T Copied from the Exome Variant Server ABCC12_000324 145/13002 0/8600 145/4402
?/? c.100C>A r.(?) p.(Pro34Thr) g.48180236G>T Copied from the Exome Variant Server ABCC12_000323 1/13002 1/8600 0/4402
?/? c.106C>T r.(?) p.(Arg36*) g.48180230G>A Copied from the Exome Variant Server ABCC12_000322 1/13002 1/8600 0/4402
?/? c.119+11A>C r.(=) p.(=) g.48180206T>G Copied from the Exome Variant Server ABCC12_000321 12/13002 12/8600 0/4402
?/? c.119+18C>T r.(=) p.(=) g.48180199G>A Copied from the Exome Variant Server ABCC12_000320 463/13002 7/8600 456/4402
?/? c.119+19A>G r.(=) p.(=) g.48180198T>C Copied from the Exome Variant Server ABCC12_000319 461/13002 7/8600 454/4402
?/? c.119+41C>T r.(=) p.(=) g.48180176G>A Copied from the Exome Variant Server ABCC12_000318 3/13002 0/8600 3/4402
?/? c.120-49G>A r.(=) p.(=) g.48178025C>T Copied from the Exome Variant Server ABCC12_000317 3/13002 3/8600 0/4402
?/? c.120-25C>T r.(=) p.(=) g.48178001G>A Copied from the Exome Variant Server ABCC12_000316 2/13002 0/8600 2/4402
?/? c.120-24G>A r.(=) p.(=) g.48178000C>T Copied from the Exome Variant Server ABCC12_000315 1/13002 0/8600 1/4402
?/? c.134C>T r.(?) p.(Pro45Leu) g.48177962G>A Copied from the Exome Variant Server ABCC12_000314 1/13002 0/8600 1/4402
?/? c.142_143insCATC r.(?) p.(Asp48Alafs*38) g.48177953_48177954insGATG Copied from the Exome Variant Server ABCC12_000313 1/12518 1/8254 0/4264
?/? c.156C>A r.(=) p.(=) g.48177940G>T Copied from the Exome Variant Server ABCC12_000312 1/13002 1/8600 0/4402
?/? c.162C>T r.(=) p.(=) g.48177934G>A Copied from the Exome Variant Server ABCC12_000311 427/13002 0/8600 427/4402
?/? c.164C>T r.(?) p.(Ala55Val) g.48177932G>A Copied from the Exome Variant Server ABCC12_000310 1/13002 0/8600 1/4402
?/? c.182C>T r.(?) p.(Thr61Met) g.48177914G>A Copied from the Exome Variant Server ABCC12_000309 4/13002 4/8600 0/4402
?/? c.185C>T r.(?) p.(Pro62Leu) g.48177911G>A Copied from the Exome Variant Server ABCC12_000308 1/13002 0/8600 1/4402
?/? c.197_198del r.(?) p.(Lys66Argfs*18) g.48177898_48177899del Copied from the Exome Variant Server ABCC12_000307 444/12518 171/8254 273/4264
?/? c.205C>T r.(?) p.(Arg69Trp) g.48177891G>A Copied from the Exome Variant Server ABCC12_000306 4/13002 0/8600 4/4402
?/? c.206G>A r.(?) p.(Arg69Gln) g.48177890C>T Copied from the Exome Variant Server ABCC12_000305 6/13002 0/8600 6/4402
?/? c.218C>T r.(?) p.(Thr73Ile) g.48177878G>A Copied from the Exome Variant Server ABCC12_000304 1/13002 1/8600 0/4402
?/? c.219C>T r.(=) p.(=) g.48177877G>A Copied from the Exome Variant Server ABCC12_000303 1/13002 1/8600 0/4402
?/? c.220G>A r.(?) p.(Val74Ile) g.48177876C>T Copied from the Exome Variant Server ABCC12_000301 49/13002 0/8600 49/4402
?/? c.275+14C>T r.(=) p.(=) g.48177807G>A Copied from the Exome Variant Server ABCC12_000299 1/13002 1/8600 0/4402
?/? c.276-32A>G r.(=) p.(=) g.48175296T>C Copied from the Exome Variant Server ABCC12_000302 2/13002 0/8600 2/4402
?/? c.276-17_276-16del r.(=) p.(=) g.48175280_48175281del Copied from the Exome Variant Server ABCC12_000300 463/12518 7/8254 456/4264
?/? c.280C>T r.(?) p.(Arg94*) g.48175260G>A Copied from the Exome Variant Server ABCC12_000298 1/13002 1/8600 0/4402
?/? c.281G>A r.(?) p.(Arg94Gln) g.48175259C>T Copied from the Exome Variant Server ABCC12_000297 3/13002 3/8600 0/4402
?/? c.290G>A r.(?) p.(Trp97*) g.48175250C>T Copied from the Exome Variant Server ABCC12_000296 1/13002 0/8600 1/4402
?/? c.299del r.(?) p.(Glu100Glyfs*2) g.48175241del Copied from the Exome Variant Server ABCC12_000295 1/12518 1/8254 0/4264
?/? c.305C>A r.(?) p.(Ala102Glu) g.48175235G>T Copied from the Exome Variant Server ABCC12_000294 2165/13002 613/8600 1552/4402
?/? c.340G>A r.(?) p.(Val114Met) g.48175200C>T Copied from the Exome Variant Server ABCC12_000293 2/13002 1/8600 1/4402
?/? c.345G>A r.(=) p.(=) g.48175195C>T Copied from the Exome Variant Server ABCC12_000292 1/13002 0/8600 1/4402
?/? c.364C>T r.(?) p.(Arg122Cys) g.48175176G>A Copied from the Exome Variant Server ABCC12_000291 3/13002 0/8600 3/4402
?/? c.367G>C r.(?) p.(Val123Leu) g.48175173C>G Copied from the Exome Variant Server ABCC12_000290 1/13002 1/8600 0/4402
?/? c.378C>T r.(=) p.(=) g.48175162G>A Copied from the Exome Variant Server ABCC12_000289 1/13002 1/8600 0/4402
?/? c.393C>T r.(=) p.(=) g.48175147G>A Copied from the Exome Variant Server ABCC12_000288 1/13002 1/8600 0/4402
?/? c.423G>A r.(=) p.(=) g.48175117C>T Copied from the Exome Variant Server ABCC12_000287 1/13002 1/8600 0/4402
?/? c.427+4C>T r.spl? p.? g.48175109G>A Copied from the Exome Variant Server ABCC12_000286 1/13002 1/8600 0/4402
?/? c.428-40G>A r.(=) p.(=) g.48174867C>T Copied from the Exome Variant Server ABCC12_000285 1/13002 0/8600 1/4402
?/? c.428-22C>G r.(=) p.(=) g.48174849G>C Copied from the Exome Variant Server ABCC12_000284 2/13002 0/8600 2/4402
?/? c.428-1G>C r.spl? p.? g.48174828C>G Copied from the Exome Variant Server ABCC12_000283 1/13002 1/8600 0/4402
?/? c.442del r.(?) p.(Ile148Serfs*20) g.48174813del Copied from the Exome Variant Server ABCC12_000282 5/12510 1/8252 4/4258
?/? c.444C>A r.(=) p.(=) g.48174811G>T Copied from the Exome Variant Server ABCC12_000281 1/13002 0/8600 1/4402
?/? c.475G>A r.(?) p.(Val159Ile) g.48174780C>T Copied from the Exome Variant Server ABCC12_000280 5/13002 0/8600 5/4402
?/? c.489T>C r.(=) p.(=) g.48174766A>G Copied from the Exome Variant Server ABCC12_000279 484/13002 7/8600 477/4402
?/? c.490G>T r.(?) p.(Gly164*) g.48174765C>A Copied from the Exome Variant Server ABCC12_000278 18/13002 17/8600 1/4402
?/? c.516C>A r.(=) p.(=) g.48174739G>T Copied from the Exome Variant Server ABCC12_000277 72/13002 1/8600 71/4402
?/? c.556A>G r.(?) p.(Ile186Val) g.48174699T>C Copied from the Exome Variant Server ABCC12_000276 1/13002 1/8600 0/4402
?/? c.562T>C r.(?) p.(Tyr188His) g.48174693A>G Copied from the Exome Variant Server ABCC12_000275 2/13002 0/8600 2/4402
?/? c.577C>T r.(?) p.(Arg193Trp) g.48174678G>A Copied from the Exome Variant Server ABCC12_000274 1/13002 1/8600 0/4402
?/? c.590C>T r.(?) p.(Ala197Val) g.48174665G>A Copied from the Exome Variant Server ABCC12_000273 2/13002 2/8600 0/4402
?/? c.591G>A r.(=) p.(=) g.48174664C>T Copied from the Exome Variant Server ABCC12_000272 2/13002 1/8600 1/4402
?/? c.638C>T r.(?) p.(Thr213Ile) g.48174617G>A Copied from the Exome Variant Server ABCC12_000271 1/13002 1/8600 0/4402
?/? c.654C>T r.(=) p.(=) g.48174601G>A Copied from the Exome Variant Server ABCC12_000270 2/13002 1/8600 1/4402
?/? c.657+39C>T r.(=) p.(=) g.48174559G>A Copied from the Exome Variant Server ABCC12_000269 2149/13002 612/8600 1537/4402
?/? c.658-8C>T r.(=) p.(=) g.48173255G>A Copied from the Exome Variant Server ABCC12_000268 1/13002 0/8600 1/4402
?/? c.671T>C r.(?) p.(Leu224Pro) g.48173234A>G Copied from the Exome Variant Server ABCC12_000267 2/13002 2/8600 0/4402
?/? c.718T>C r.(=) p.(=) g.48173187A>G Copied from the Exome Variant Server ABCC12_000266 1/13002 0/8600 1/4402
?/? c.731T>A r.(?) p.(Ile244Asn) g.48173174A>T Copied from the Exome Variant Server ABCC12_000265 1/13002 0/8600 1/4402
?/? c.735G>T r.(=) p.(=) g.48173170C>A Copied from the Exome Variant Server ABCC12_000264 1/13002 1/8600 0/4402
?/? c.736A>G r.(?) p.(Ile246Val) g.48173169T>C Copied from the Exome Variant Server ABCC12_000263 2/13002 2/8600 0/4402
?/? c.739C>T r.(=) p.(=) g.48173166G>A Copied from the Exome Variant Server ABCC12_000261 4/13002 3/8600 1/4402
?/? c.758C>T r.(?) p.(Ala253Val) g.48173147G>A Copied from the Exome Variant Server ABCC12_000259 2/13002 0/8600 2/4402
?/? c.779G>T r.(?) p.(Gly260Val) g.48173126C>A Copied from the Exome Variant Server ABCC12_000257 101/13002 0/8600 101/4402
?/? c.783C>G r.(=) p.(=) g.48173122G>C Copied from the Exome Variant Server ABCC12_000255 1/13002 0/8600 1/4402
?/? c.787G>T r.(?) p.(Ala263Ser) g.48173118C>A Copied from the Exome Variant Server ABCC12_000253 1/13002 0/8600 1/4402
?/? c.788C>G r.(?) p.(Ala263Gly) g.48173117G>C Copied from the Exome Variant Server ABCC12_000251 6/13002 0/8600 6/4402
?/? c.831+51A>G r.(=) p.(=) g.48173023T>C Copied from the Exome Variant Server ABCC12_000249 1/13002 1/8600 0/4402
?/? c.832-39C>G r.(=) p.(=) g.48172325G>C Copied from the Exome Variant Server ABCC12_000247 1/13002 1/8600 0/4402
?/? c.832-32C>G r.(=) p.(=) g.48172318G>C Copied from the Exome Variant Server ABCC12_000245 1/13002 1/8600 0/4402
?/? c.846G>A r.(=) p.(=) g.48172272C>T Copied from the Exome Variant Server ABCC12_000243 1/13002 0/8600 1/4402
?/? c.892C>T r.(?) p.(Arg298*) g.48172226G>A Copied from the Exome Variant Server ABCC12_000241 3/13002 0/8600 3/4402
?/? c.904A>G r.(?) p.(Met302Val) g.48172214T>C Copied from the Exome Variant Server ABCC12_000239 1/13002 1/8600 0/4402
?/? c.911_914del r.(?) p.(Glu304Valfs*2) g.48172204_48172207del Copied from the Exome Variant Server ABCC12_000262 1/12518 0/8254 1/4264
?/? c.921C>T r.(=) p.(=) g.48172197G>A Copied from the Exome Variant Server ABCC12_000260 1/13002 1/8600 0/4402
?/? c.923G>A r.(?) p.(Cys308Tyr) g.48172195C>T Copied from the Exome Variant Server ABCC12_000258 1/13002 1/8600 0/4402
?/? c.929G>C r.(?) p.(Arg310Thr) g.48172189C>G Copied from the Exome Variant Server ABCC12_000256 1/13002 1/8600 0/4402
?/? c.933G>T r.(=) p.(=) g.48172185C>A Copied from the Exome Variant Server ABCC12_000254 288/13002 1/8600 287/4402
?/? c.969C>T r.(=) p.(=) g.48172149G>A Copied from the Exome Variant Server ABCC12_000252 4/13002 2/8600 2/4402
?/? c.979+29C>A r.(=) p.(=) g.48172110G>T Copied from the Exome Variant Server ABCC12_000250 3/13002 3/8600 0/4402
?/? c.979+47T>A r.(=) p.(=) g.48172092A>T Copied from the Exome Variant Server ABCC12_000248 1/13002 1/8600 0/4402
?/? c.980-42C>T r.(=) p.(=) g.48167788G>A Copied from the Exome Variant Server ABCC12_000246 1/13002 0/8600 1/4402
?/? c.980-2A>C r.spl? p.? g.48167748T>G Copied from the Exome Variant Server ABCC12_000244 1/13002 1/8600 0/4402
?/? c.980-1G>A r.spl? p.? g.48167747C>T Copied from the Exome Variant Server ABCC12_000242 1/13002 1/8600 0/4402
?/? c.1026C>T r.(=) p.(=) g.48167700G>A Copied from the Exome Variant Server ABCC12_000240 1/13002 1/8600 0/4402
?/? c.1051C>G r.(?) p.(Pro351Ala) g.48167675G>C Copied from the Exome Variant Server ABCC12_000238 1/13002 1/8600 0/4402
?/? c.1054A>G r.(?) p.(Ile352Val) g.48167672T>C Copied from the Exome Variant Server ABCC12_000237 1/13002 0/8600 1/4402
?/? c.1069G>A r.(?) p.(Ala357Thr) g.48167657C>T Copied from the Exome Variant Server ABCC12_000236 2/13002 2/8600 0/4402
?/? c.1075G>A r.(?) p.(Val359Met) g.48167651C>T Copied from the Exome Variant Server ABCC12_000235 1/13002 1/8600 0/4402
?/? c.1096A>G r.(?) p.(Ile366Val) g.48167630T>C Copied from the Exome Variant Server ABCC12_000234 1/13002 0/8600 1/4402
?/? c.1108C>T r.(?) p.(Arg370Cys) g.48167618G>A Copied from the Exome Variant Server ABCC12_000233 4/13002 4/8600 0/4402
?/? c.1126G>A r.(?) p.(Val376Met) g.48167600C>T Copied from the Exome Variant Server ABCC12_000232 1/13002 0/8600 1/4402
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