Unique variants in gene ABCC9

Information The variants shown are described using the NM_005691.2 transcript reference sequence.

281 entries on 3 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.-11T>C r.(=) p.(=) g.22089619A>G Copied from the Exome Variant Server ABCC9_000281 1/13004 1/8598 0/4406
1 c.-9T>C r.(=) p.(=) g.22089617A>G Copied from the Exome Variant Server ABCC9_000280 1/13002 1/8596 0/4406
1 c.58C>T r.(=) p.(=) g.22089551G>A Copied from the Exome Variant Server ABCC9_000279 1/13006 1/8600 0/4406
1 c.142+2T>C r.spl? p.? g.22089465A>G Copied from the Exome Variant Server ABCC9_000278 1/13004 1/8598 0/4406
1 c.142+10C>A r.(=) p.(=) g.22089457G>T Copied from the Exome Variant Server ABCC9_000277 2/13006 0/8600 2/4406
1 c.142+15_142+16insA r.(=) p.(=) g.22089451_22089452insT Copied from the Exome Variant Server ABCC9_000276 58/12518 0/8254 58/4264
1 c.142+17C>G r.(=) p.(=) g.22089450G>C Copied from the Exome Variant Server ABCC9_000275 1/13006 1/8600 0/4406
1 c.142+26T>C r.(=) p.(=) g.22089441A>G Copied from the Exome Variant Server ABCC9_000274 1/13004 0/8598 1/4406
1 c.142+42T>C r.(=) p.(=) g.22089425A>G Copied from the Exome Variant Server ABCC9_000273 83/12998 76/8592 7/4406
1 c.142+49C>T r.(=) p.(=) g.22089418G>A Copied from the Exome Variant Server ABCC9_000272 1/13000 0/8594 1/4406
1 c.143-30T>C r.(=) p.(=) g.22086887A>G Copied from the Exome Variant Server ABCC9_000271 87/13006 2/8600 85/4406
1 c.215G>A r.(?) p.(Arg72Lys) g.22086785C>T Copied from the Exome Variant Server ABCC9_000270 1/13006 0/8600 1/4406
1 c.284C>T r.(?) p.(Ser95Leu) g.22086716G>A Copied from the Exome Variant Server ABCC9_000269 1/13006 1/8600 0/4406
1 c.284+14G>C r.(=) p.(=) g.22086702C>G Copied from the Exome Variant Server ABCC9_000268 1/13006 0/8600 1/4406
1 c.284+38C>G r.(=) p.(=) g.22086678G>C Copied from the Exome Variant Server ABCC9_000267 3/13006 3/8600 0/4406
1 c.285-51G>T r.(=) p.(=) g.22079048C>A Copied from the Exome Variant Server ABCC9_000266 3/13004 0/8600 3/4404
1 c.285-23C>T r.(=) p.(=) g.22079020G>A Copied from the Exome Variant Server ABCC9_000265 34/13006 30/8600 4/4406
1 c.285-16G>A r.(=) p.(=) g.22079013C>T Copied from the Exome Variant Server ABCC9_000264 61/13006 2/8600 59/4406
1 c.286C>T r.(?) p.(Arg96Trp) g.22078996G>A Copied from the Exome Variant Server ABCC9_000263 1/13006 1/8600 0/4406
1 c.305T>C r.(?) p.(Leu102Pro) g.22078977A>G Copied from the Exome Variant Server ABCC9_000262 1/13006 0/8600 1/4406
1 c.325G>A r.(?) p.(Val109Met) g.22078957C>T Copied from the Exome Variant Server ABCC9_000261 1/13006 0/8600 1/4406
1 c.354G>A r.(=) p.(=) g.22078928C>T Copied from the Exome Variant Server ABCC9_000260 1/13006 0/8600 1/4406
1 c.372T>C r.(=) p.(=) g.22078910A>G Copied from the Exome Variant Server ABCC9_000259 9/13006 9/8600 0/4406
1 c.406+27T>C r.(=) p.(=) g.22078849A>G Copied from the Exome Variant Server ABCC9_000258 1/13006 1/8600 0/4406
1 c.406+38A>C r.(=) p.(=) g.22078838T>G Copied from the Exome Variant Server ABCC9_000257 8310/13006 5224/8600 3086/4406
1 c.407-14C>A r.(=) p.(=) g.22070051G>T Copied from the Exome Variant Server ABCC9_000256 37/13006 34/8600 3/4406
1 c.407-13T>C r.(=) p.(=) g.22070050A>G Copied from the Exome Variant Server ABCC9_000255 4/13006 0/8600 4/4406
1 c.411G>A r.(=) p.(=) g.22070033C>T Copied from the Exome Variant Server ABCC9_000254 1/13006 0/8600 1/4406
1 c.437T>A r.(?) p.(Ile146Asn) g.22070007A>T Copied from the Exome Variant Server ABCC9_000253 1/13006 1/8600 0/4406
1 c.574-18G>A r.(=) p.(=) g.22068862C>T Copied from the Exome Variant Server ABCC9_000251 2/12990 0/8592 2/4398
1 c.574-5C>A r.spl? p.? g.22068849G>T Copied from the Exome Variant Server ABCC9_000249 7642/12998 5093/8596 2549/4402
1 c.609G>A r.(=) p.(=) g.22068809C>T Copied from the Exome Variant Server ABCC9_000247 1/13006 1/8600 0/4406
1 c.612T>G r.(=) p.(=) g.22068806A>C Copied from the Exome Variant Server ABCC9_000245 1/13006 0/8600 1/4406
1 c.764T>C r.(?) p.(Met255Thr) g.22068654A>G Copied from the Exome Variant Server ABCC9_000244 1/13006 1/8600 0/4406
1 c.789C>T r.(=) p.(=) g.22068629G>A Copied from the Exome Variant Server ABCC9_000242 191/13006 9/8600 182/4406
1 c.798T>C r.(=) p.(=) g.22068620A>G Copied from the Exome Variant Server ABCC9_000239 23/13006 0/8600 23/4406
1 c.809A>C r.(?) p.(Glu270Ala) g.22068609T>G Copied from the Exome Variant Server ABCC9_000237 1/13006 1/8600 0/4406
1 c.816+11G>A r.(=) p.(=) g.22068591C>T Copied from the Exome Variant Server ABCC9_000235 2/13006 1/8600 1/4406
1 c.817-7del r.(=) p.(=) g.22066007del Copied from the Exome Variant Server ABCC9_000233 220/12506 163/8250 57/4256
1 c.817-7dup r.(=) p.(=) g.22066007dup Copied from the Exome Variant Server ABCC9_000232 198/12506 113/8250 85/4256
1 c.822del r.(?) p.(Val275Leufs*47) g.22065995del Copied from the Exome Variant Server ABCC9_000252 2/12518 1/8254 1/4264
1 c.853A>G r.(?) p.(Ile285Val) g.22065964T>C Copied from the Exome Variant Server ABCC9_000250 1/13006 1/8600 0/4406
1 c.885A>G r.(=) p.(=) g.22065932T>C Copied from the Exome Variant Server ABCC9_000248 1/13006 1/8600 0/4406
1 c.918G>A r.(=) p.(=) g.22065899C>T Copied from the Exome Variant Server ABCC9_000246 3/13006 0/8600 3/4406
1 c.924T>C r.(=) p.(=) g.22065893A>G Copied from the Exome Variant Server ABCC9_000243 22/13006 0/8600 22/4406
1 c.1011+29C>G r.(=) p.(=) g.22065777G>C Copied from the Exome Variant Server ABCC9_000241 1/13004 1/8600 0/4404
1 c.1011+51G>T r.(=) p.(=) g.22065755C>A Copied from the Exome Variant Server ABCC9_000240 1/13004 0/8598 1/4406
1 c.1012-38C>T r.(=) p.(=) g.22063950G>A Copied from the Exome Variant Server ABCC9_000238 3/13000 1/8596 2/4404
1 c.1012-29A>G r.(=) p.(=) g.22063941T>C Copied from the Exome Variant Server ABCC9_000236 1/13004 0/8600 1/4404
1 c.1012-26T>A r.(=) p.(=) g.22063938A>T Copied from the Exome Variant Server ABCC9_000234 1/13004 0/8600 1/4404
1 c.1012-21C>G r.(=) p.(=) g.22063933G>C Copied from the Exome Variant Server ABCC9_000231 5/13006 0/8600 5/4406
1 c.1012-18T>C r.(=) p.(=) g.22063930A>G Copied from the Exome Variant Server ABCC9_000230 1/13006 1/8600 0/4406
1 c.1012-14del r.(=) p.(=) g.22063926del Copied from the Exome Variant Server ABCC9_000229 6/12518 5/8254 1/4264
1 c.1012-13C>A r.(=) p.(=) g.22063925G>T Copied from the Exome Variant Server ABCC9_000228 1/13006 1/8600 0/4406
1 c.1023C>G r.(=) p.(=) g.22063901G>C Copied from the Exome Variant Server ABCC9_000227 1/13006 1/8600 0/4406
1 c.1050C>T r.(=) p.(=) g.22063874G>A Copied from the Exome Variant Server ABCC9_000226 1/13006 1/8600 0/4406
1 c.1051G>T r.(?) p.(Ala351Ser) g.22063873C>A Copied from the Exome Variant Server ABCC9_000225 1/13006 0/8600 1/4406
1 c.1056C>T r.(=) p.(=) g.22063868G>A Copied from the Exome Variant Server ABCC9_000224 41/13006 1/8600 40/4406
1 c.1063G>T r.(?) p.(Ala355Ser) g.22063861C>A Copied from the Exome Variant Server ABCC9_000223 1/13006 1/8600 0/4406
1 c.1127C>T r.(?) p.(Thr376Ile) g.22063797G>A Copied from the Exome Variant Server ABCC9_000222 1/13002 1/8596 0/4406
1 c.1130T>C r.(?) p.(Ile377Thr) g.22063794A>G Copied from the Exome Variant Server ABCC9_000221 1/13002 1/8596 0/4406
1 c.1151G>A r.(?) p.(Arg384His) g.22063773C>T Copied from the Exome Variant Server ABCC9_000220 1/13004 1/8598 0/4406
1 c.1164+11A>G r.(=) p.(=) g.22063749T>C Copied from the Exome Variant Server ABCC9_000219 12869/13002 8594/8596 4275/4406
1 c.1164+23C>A r.(=) p.(=) g.22063737G>T Copied from the Exome Variant Server ABCC9_000218 12868/13002 8594/8596 4274/4406
1 c.1164+46T>C r.(=) p.(=) g.22063714A>G Copied from the Exome Variant Server ABCC9_000217 1/12998 1/8596 0/4402
1 c.1165-39del r.(=) p.(=) g.22063285del Copied from the Exome Variant Server ABCC9_000216 1/12510 1/8248 0/4262
1 c.1165-20del r.(=) p.(=) g.22063266del Copied from the Exome Variant Server ABCC9_000215 5/12516 1/8252 4/4264
1 c.1175A>G r.(?) p.(Tyr392Cys) g.22063236T>C Copied from the Exome Variant Server ABCC9_000214 1/13006 1/8600 0/4406
1 c.1200G>A r.(=) p.(=) g.22063211C>T Copied from the Exome Variant Server ABCC9_000213 2/13006 0/8600 2/4406
1 c.1212C>T r.(=) p.(=) g.22063199G>A Copied from the Exome Variant Server ABCC9_000212 1/13006 1/8600 0/4406
1 c.1213A>G r.(?) p.(Met405Val) g.22063198T>C Copied from the Exome Variant Server ABCC9_000211 1/13006 0/8600 1/4406
1 c.1253C>T r.(?) p.(Ala418Val) g.22063158G>A Copied from the Exome Variant Server ABCC9_000210 1/13006 1/8600 0/4406
1 c.1296T>C r.(=) p.(=) g.22063115A>G Copied from the Exome Variant Server ABCC9_000209 12958/13004 8598/8598 4360/4406
1 c.1320+1G>A r.spl? p.? g.22063090C>T Copied from the Exome Variant Server ABCC9_000208 2/13006 2/8600 0/4406
1 c.1320+33T>C r.(=) p.(=) g.22063058A>G Copied from the Exome Variant Server ABCC9_000207 1/13000 1/8596 0/4404
1 c.1329G>A r.(?) p.(Met443Ile) g.22061137C>T Copied from the Exome Variant Server ABCC9_000206 1/13004 0/8598 1/4406
1 c.1332C>T r.(=) p.(=) g.22061134G>A Copied from the Exome Variant Server ABCC9_000205 1/13004 0/8598 1/4406
1 c.1374C>T r.(=) p.(=) g.22061092G>A Copied from the Exome Variant Server ABCC9_000204 1/13004 1/8598 0/4406
1 c.1381G>C r.(?) p.(Ala461Pro) g.22061085C>G Copied from the Exome Variant Server ABCC9_000203 1/13004 0/8598 1/4406
1 c.1398T>C r.(=) p.(=) g.22061068A>G Copied from the Exome Variant Server ABCC9_000202 1/13004 1/8598 0/4406
1 c.1401G>A r.(=) p.(=) g.22061065C>T Copied from the Exome Variant Server ABCC9_000201 1/13004 1/8598 0/4406
1 c.1455+4A>C r.spl? p.? g.22061007T>G Copied from the Exome Variant Server ABCC9_000200 3/13004 3/8598 0/4406
1 c.1455+15T>C r.(=) p.(=) g.22060996A>G Copied from the Exome Variant Server ABCC9_000199 1/13004 0/8598 1/4406
1 c.1455+25A>T r.(=) p.(=) g.22060986T>A Copied from the Exome Variant Server ABCC9_000197 1/13002 1/8598 0/4404
1 c.1456-10del r.(=) p.(=) g.22059232del Copied from the Exome Variant Server ABCC9_000195 1/12510 0/8248 1/4262
1 c.1557G>A r.(=) p.(=) g.22059121C>T Copied from the Exome Variant Server ABCC9_000193 2/13006 2/8600 0/4406
1 c.1618+28C>A r.(=) p.(=) g.22059032G>T Copied from the Exome Variant Server ABCC9_000191 3/13006 2/8600 1/4406
1 c.1618+29G>A r.(=) p.(=) g.22059031C>T Copied from the Exome Variant Server ABCC9_000189 4/13006 3/8600 1/4406
1 c.1618+42A>G r.(=) p.(=) g.22059018T>C Copied from the Exome Variant Server ABCC9_000187 1/13006 0/8600 1/4406
1 c.1618+44C>G r.(=) p.(=) g.22059016G>C Copied from the Exome Variant Server ABCC9_000186 1/13006 1/8600 0/4406
1 c.1619-46G>A r.(=) p.(=) g.22048295C>T Copied from the Exome Variant Server ABCC9_000198 4/13006 0/8600 4/4406
1 c.1619-44T>A r.(=) p.(=) g.22048293A>T Copied from the Exome Variant Server ABCC9_000196 1/13006 0/8600 1/4406
1 c.1619-22T>C r.(=) p.(=) g.22048271A>G Copied from the Exome Variant Server ABCC9_000194 48/13006 1/8600 47/4406
1 c.1638T>A r.(=) p.(=) g.22048230A>T Copied from the Exome Variant Server ABCC9_000192 1/13006 0/8600 1/4406
1 c.1659+19_1659+20del r.(=) p.(=) g.22048189_22048190del Copied from the Exome Variant Server ABCC9_000190 68/12514 38/8250 30/4264
1 c.1659+25G>T r.(=) p.(=) g.22048184C>A Copied from the Exome Variant Server ABCC9_000188 2/13002 2/8596 0/4406
1 c.1659+30G>T r.(=) p.(=) g.22048179C>A Copied from the Exome Variant Server ABCC9_000185 1/13002 1/8596 0/4406
1 c.1659+34C>T r.(=) p.(=) g.22048175G>A Copied from the Exome Variant Server ABCC9_000184 2/13002 2/8596 0/4406
1 c.1659+37A>C r.(=) p.(=) g.22048172T>G Copied from the Exome Variant Server ABCC9_000183 1/13002 1/8596 0/4406
1 c.1659+40C>T r.(=) p.(=) g.22048169G>A Copied from the Exome Variant Server ABCC9_000182 11/13002 0/8596 11/4406
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