Unique variants in gene ABCC11

Information The variants shown are described using the NM_032583.3 transcript reference sequence.

342 entries on 4 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-18-26A>G r.(=) p.(=) g.48265876T>C Copied from the Exome Variant Server ABCC11_000342 1/13000 1/8600 0/4400
1 c.-18-4G>A r.spl? p.? g.48265854C>T Copied from the Exome Variant Server ABCC11_000341 1/13000 1/8600 0/4400
1 c.-3A>C r.(=) p.(=) g.48265835T>G Copied from the Exome Variant Server ABCC11_000340 1/13000 1/8600 0/4400
1 c.7A>G r.(?) p.(Arg3Gly) g.48265826T>C Copied from the Exome Variant Server ABCC11_000339 2/13000 2/8600 0/4400
1 c.24G>T r.(?) p.(Trp8Cys) g.48265809C>A Copied from the Exome Variant Server ABCC11_000338 97/13000 1/8600 96/4400
1 c.34T>C r.(?) p.(Ser12Pro) g.48265799A>G Copied from the Exome Variant Server ABCC11_000337 1/13000 1/8600 0/4400
1 c.38C>G r.(?) p.(Ser13Cys) g.48265795G>C Copied from the Exome Variant Server ABCC11_000336 1/13000 0/8600 1/4400
1 c.56G>A r.(?) p.(Arg19His) g.48265777C>T Copied from the Exome Variant Server ABCC11_000335 1663/13000 742/8600 921/4400
1 c.64G>A r.(?) p.(Asp22Asn) g.48265769C>T Copied from the Exome Variant Server ABCC11_000334 12/13000 0/8600 12/4400
1 c.66C>T r.(=) p.(=) g.48265767G>A Copied from the Exome Variant Server ABCC11_000333 1/13000 0/8600 1/4400
1 c.72C>T r.(=) p.(=) g.48265761G>A Copied from the Exome Variant Server ABCC11_000332 1/13000 0/8600 1/4400
1 c.99+6T>C r.(=) p.(=) g.48265728A>G Copied from the Exome Variant Server ABCC11_000331 1/13000 1/8600 0/4400
1 c.99+7A>G r.(=) p.(=) g.48265727T>C Copied from the Exome Variant Server ABCC11_000330 1/13000 1/8600 0/4400
1 c.100A>G r.(?) p.(Lys34Glu) g.48264484T>C Copied from the Exome Variant Server ABCC11_000329 1/13000 0/8600 1/4400
1 c.143_144del r.(?) p.(Arg48Lysfs*3) g.48264440_48264441del Copied from the Exome Variant Server ABCC11_000328 2/12518 1/8254 1/4264
1 c.161G>C r.(?) p.(Gly54Ala) g.48264423C>G Copied from the Exome Variant Server ABCC11_000327 2/13000 0/8600 2/4400
1 c.167C>T r.(?) p.(Ala56Val) g.48264417G>A Copied from the Exome Variant Server ABCC11_000326 1/13000 0/8600 1/4400
1 c.180G>A r.(=) p.(=) g.48264404C>T Copied from the Exome Variant Server ABCC11_000325 4/13000 4/8600 0/4400
1 c.189G>A r.(=) p.(=) g.48264395C>T Copied from the Exome Variant Server ABCC11_000324 16/13000 0/8600 16/4400
1 c.204G>A r.(=) p.(=) g.48264380C>T Copied from the Exome Variant Server ABCC11_000323 2/13000 0/8600 2/4400
1 c.210C>A r.(=) p.(=) g.48264374G>T Copied from the Exome Variant Server ABCC11_000321 1/13000 1/8600 0/4400
1 c.224G>A r.(?) p.(Arg75His) g.48264360C>T Copied from the Exome Variant Server ABCC11_000319 3/13000 0/8600 3/4400
1 c.230A>G r.(?) p.(Lys77Arg) g.48264354T>C Copied from the Exome Variant Server ABCC11_000317 2/13000 2/8600 0/4400
1 c.232C>T r.(?) p.(Pro78Ser) g.48264352G>A Copied from the Exome Variant Server ABCC11_000322 97/13000 1/8600 96/4400
1 c.236+12T>C r.(=) p.(=) g.48264336A>G Copied from the Exome Variant Server ABCC11_000320 2/13000 1/8600 1/4400
1 c.236+17G>A r.(=) p.(=) g.48264331C>T Copied from the Exome Variant Server ABCC11_000318 52/13000 46/8600 6/4400
1 c.236+24G>A r.(=) p.(=) g.48264324C>T Copied from the Exome Variant Server ABCC11_000316 2/13000 2/8600 0/4400
1 c.236+51A>T r.(=) p.(=) g.48264297T>A Copied from the Exome Variant Server ABCC11_000315 1/13000 1/8600 0/4400
1 c.238T>A r.(?) p.(Phe80Ile) g.48261874A>T Copied from the Exome Variant Server ABCC11_000314 1/13000 1/8600 0/4400
1 c.250C>T r.(?) p.(Gln84*) g.48261862G>A Copied from the Exome Variant Server ABCC11_000313 1/13000 1/8600 0/4400
1 c.256C>T r.(=) p.(=) g.48261856G>A Copied from the Exome Variant Server ABCC11_000312 1/13000 1/8600 0/4400
1 c.280T>C r.(?) p.(Tyr94His) g.48261832A>G Copied from the Exome Variant Server ABCC11_000311 2/13000 2/8600 0/4400
1 c.283C>G r.(?) p.(Leu95Val) g.48261829G>C Copied from the Exome Variant Server ABCC11_000310 4/13000 4/8600 0/4400
1 c.285C>T r.(=) p.(=) g.48261827G>A Copied from the Exome Variant Server ABCC11_000309 15/13000 0/8600 15/4400
1 c.295T>C r.(?) p.(Trp99Arg) g.48261817A>G Copied from the Exome Variant Server ABCC11_000308 1/13000 1/8600 0/4400
1 c.297G>A r.(?) p.(Trp99*) g.48261815C>T Copied from the Exome Variant Server ABCC11_000307 18/13000 15/8600 3/4400
1 c.326G>A r.(?) p.(Arg109Gln) g.48261786C>T Copied from the Exome Variant Server ABCC11_000306 2/13000 0/8600 2/4400
1 c.351C>T r.(=) p.(=) g.48261761G>A Copied from the Exome Variant Server ABCC11_000305 4/13000 3/8600 1/4400
1 c.377C>T r.(?) p.(Ser126Leu) g.48261735G>A Copied from the Exome Variant Server ABCC11_000304 1/13000 0/8600 1/4400
1 c.395+10C>T r.(=) p.(=) g.48261707G>A Copied from the Exome Variant Server ABCC11_000303 1/13000 0/8600 1/4400
1 c.395+27G>A r.(=) p.(=) g.48261690C>T Copied from the Exome Variant Server ABCC11_000302 3/13000 1/8600 2/4400
1 c.396-42C>T r.(=) p.(=) g.48258382G>A Copied from the Exome Variant Server ABCC11_000301 1/13000 0/8600 1/4400
1 c.396-41A>T r.(=) p.(=) g.48258381T>A Copied from the Exome Variant Server ABCC11_000300 1650/13000 742/8600 908/4400
1 c.396-24C>G r.(=) p.(=) g.48258364G>C Copied from the Exome Variant Server ABCC11_000299 1/13000 0/8600 1/4400
1 c.482C>A r.(?) p.(Thr161Lys) g.48258254G>T Copied from the Exome Variant Server ABCC11_000298 2/13000 0/8600 2/4400
1 c.485G>A r.(?) p.(Arg162Lys) g.48258251C>T Copied from the Exome Variant Server ABCC11_000297 1/13000 0/8600 1/4400
1 c.491T>C r.(?) p.(Ile164Thr) g.48258245A>G Copied from the Exome Variant Server ABCC11_000296 1/13000 1/8600 0/4400
1 c.517T>G r.(?) p.(Phe173Val) g.48258219A>C Copied from the Exome Variant Server ABCC11_000295 1/13000 1/8600 0/4400
1 c.538G>A r.(?) p.(Gly180Arg) g.48258198C>T Copied from the Exome Variant Server ABCC11_000294 1274/13000 1136/8600 138/4400
1 c.543+26G>A r.(=) p.(=) g.48258167C>T Copied from the Exome Variant Server ABCC11_000293 1/13000 0/8600 1/4400
1 c.543+29G>A r.(=) p.(=) g.48258164C>T Copied from the Exome Variant Server ABCC11_000292 1/13000 1/8600 0/4400
1 c.544-48G>A r.(=) p.(=) g.48256790C>T Copied from the Exome Variant Server ABCC11_000291 1/13000 1/8600 0/4400
1 c.544-16T>G r.(=) p.(=) g.48256758A>C Copied from the Exome Variant Server ABCC11_000290 1/13000 0/8600 1/4400
1 c.546A>G r.(?) p.(Ile182Met) g.48256740T>C Copied from the Exome Variant Server ABCC11_000289 1/13000 0/8600 1/4400
1 c.618C>T r.(=) p.(=) g.48256668G>A Copied from the Exome Variant Server ABCC11_000288 1/13000 1/8600 0/4400
1 c.636C>T r.(=) p.(=) g.48256650G>A Copied from the Exome Variant Server ABCC11_000287 2/13000 2/8600 0/4400
1 c.654G>C r.(=) p.(=) g.48256632C>G Copied from the Exome Variant Server ABCC11_000286 1/13000 0/8600 1/4400
1 c.663C>T r.(=) p.(=) g.48256623G>A Copied from the Exome Variant Server ABCC11_000285 1/13000 1/8600 0/4400
1 c.673A>T r.(?) p.(Ile225Phe) g.48256613T>A Copied from the Exome Variant Server ABCC11_000284 4/13000 0/8600 4/4400
1 c.684A>G r.(=) p.(=) g.48256602T>C Copied from the Exome Variant Server ABCC11_000283 1911/13000 755/8600 1156/4400
1 c.685C>T r.(?) p.(Arg229Cys) g.48256601G>A Copied from the Exome Variant Server ABCC11_000282 1/13000 0/8600 1/4400
1 c.703C>A r.(=) p.(=) g.48256583G>T Copied from the Exome Variant Server ABCC11_000281 3/13002 0/8600 3/4402
1 c.704G>A r.(?) p.(Arg235Gln) g.48256582C>T Copied from the Exome Variant Server ABCC11_000280 1/13002 1/8600 0/4402
1 c.741C>T r.(=) p.(=) g.48256545G>A Copied from the Exome Variant Server ABCC11_000279 1/13002 0/8600 1/4402
1 c.772G>A r.(?) p.(Gly258Arg) g.48256514C>T Copied from the Exome Variant Server ABCC11_000278 1/13002 1/8600 0/4402
1 c.777+25T>C r.(=) p.(=) g.48256484A>G Copied from the Exome Variant Server ABCC11_000277 1965/13002 754/8600 1211/4402
1 c.778-49G>T r.(=) p.(=) g.48250247C>A Copied from the Exome Variant Server ABCC11_000276 1867/13002 758/8600 1109/4402
1 c.778-23C>T r.(=) p.(=) g.48250221G>A Copied from the Exome Variant Server ABCC11_000275 1868/13002 758/8600 1110/4402
1 c.778-20A>G r.(=) p.(=) g.48250218T>C Copied from the Exome Variant Server ABCC11_000274 1868/13002 758/8600 1110/4402
1 c.778-15C>G r.(=) p.(=) g.48250213G>C Copied from the Exome Variant Server ABCC11_000273 5/13002 0/8600 5/4402
1 c.795C>T r.(=) p.(=) g.48250181G>A Copied from the Exome Variant Server ABCC11_000272 1/13002 1/8600 0/4402
1 c.823G>T r.(?) p.(Val275Leu) g.48250153C>A Copied from the Exome Variant Server ABCC11_000271 3/13002 3/8600 0/4402
1 c.832G>T r.(?) p.(Gly278*) g.48250144C>A Copied from the Exome Variant Server ABCC11_000270 6/13002 0/8600 6/4402
1 c.836C>T r.(?) p.(Pro279Leu) g.48250140G>A Copied from the Exome Variant Server ABCC11_000269 20/13002 19/8600 1/4402
1 c.838C>T r.(=) p.(=) g.48250138G>A Copied from the Exome Variant Server ABCC11_000268 1/13002 1/8600 0/4402
1 c.856G>A r.(?) p.(Ala286Thr) g.48250120C>T Copied from the Exome Variant Server ABCC11_000267 1/13002 1/8600 0/4402
1 c.861G>A r.(=) p.(=) g.48250115C>T Copied from the Exome Variant Server ABCC11_000266 1/13002 1/8600 0/4402
1 c.885del r.(?) p.(Tyr296Thrfs*25) g.48250091del Copied from the Exome Variant Server ABCC11_000265 5/12518 3/8254 2/4264
1 c.945A>G r.(=) p.(=) g.48250031T>C Copied from the Exome Variant Server ABCC11_000264 772/13002 4/8600 768/4402
1 c.950C>A r.(?) p.(Ala317Glu) g.48250026G>T Copied from the Exome Variant Server ABCC11_000263 1867/13002 758/8600 1109/4402
1 c.951G>A r.(=) p.(=) g.48250025C>T Copied from the Exome Variant Server ABCC11_000262 1/13002 0/8600 1/4402
1 c.951+14C>T r.(=) p.(=) g.48250011G>A Copied from the Exome Variant Server ABCC11_000261 1864/13002 758/8600 1106/4402
1 c.992C>T r.(?) p.(Thr331Ile) g.48249215G>A Copied from the Exome Variant Server ABCC11_000260 1/13002 1/8600 0/4402
1 c.1005C>T r.(=) p.(=) g.48249202G>A Copied from the Exome Variant Server ABCC11_000259 1/13002 1/8600 0/4402
1 c.1025C>A r.(?) p.(Thr342Asn) g.48249182G>T Copied from the Exome Variant Server ABCC11_000258 1/13002 1/8600 0/4402
1 c.1072G>T r.(?) p.(Glu358*) g.48249135C>A Copied from the Exome Variant Server ABCC11_000257 1/13002 1/8600 0/4402
1 c.1076A>G r.(?) p.(Lys359Arg) g.48249131T>C Copied from the Exome Variant Server ABCC11_000256 5/13002 5/8600 0/4402
1 c.1099+17T>C r.(=) p.(=) g.48249091A>G Copied from the Exome Variant Server ABCC11_000255 1/13002 1/8600 0/4402
1 c.1100-51T>G r.(=) p.(=) g.48248991A>C Copied from the Exome Variant Server ABCC11_000254 1/13002 1/8600 0/4402
1 c.1100-38T>C r.(=) p.(=) g.48248978A>G Copied from the Exome Variant Server ABCC11_000253 4/13002 0/8600 4/4402
1 c.1100-37G>C r.(=) p.(=) g.48248977C>G Copied from the Exome Variant Server ABCC11_000252 1/13002 1/8600 0/4402
1 c.1100-10_1100-9insT r.(=) p.(=) g.48248949_48248950insA Copied from the Exome Variant Server ABCC11_000251 665/12518 552/8254 113/4264
1 c.1122A>G r.(=) p.(=) g.48248918T>C Copied from the Exome Variant Server ABCC11_000250 2737/13002 1337/8600 1400/4402
1 c.1126T>C r.(=) p.(=) g.48248914A>G Copied from the Exome Variant Server ABCC11_000249 1/13002 0/8600 1/4402
1 c.1137C>T r.(=) p.(=) g.48248903G>A Copied from the Exome Variant Server ABCC11_000248 1/13002 1/8600 0/4402
1 c.1157C>T r.(?) p.(Thr386Ile) g.48248883G>A Copied from the Exome Variant Server ABCC11_000247 1/13002 1/8600 0/4402
1 c.1166C>A r.(?) p.(Thr389Asn) g.48248874G>T Copied from the Exome Variant Server ABCC11_000246 1/13002 0/8600 1/4402
1 c.1196C>T r.(?) p.(Ala399Val) g.48248844G>A Copied from the Exome Variant Server ABCC11_000245 1/13002 0/8600 1/4402
1 c.1197G>A r.(=) p.(=) g.48248843C>T Copied from the Exome Variant Server ABCC11_000244 12/13002 0/8600 12/4402
1 c.1242G>A r.(=) p.(=) g.48248798C>T Copied from the Exome Variant Server ABCC11_000243 105/13002 0/8600 105/4402
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