Unique variants in gene ABCC4

Information The variants shown are described using the NM_005845.3 transcript reference sequence.

282 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.-49C>T r.(=) p.(=) g.95953617G>A Copied from the Exome Variant Server ABCC4_000282 191/11962 168/7856 23/4106
1 c.10G>A r.(?) p.(Val4Met) g.95953559C>T Copied from the Exome Variant Server ABCC4_000281 1/12998 1/8598 0/4400
1 c.52C>A r.(?) p.(Leu18Ile) g.95953517G>T Copied from the Exome Variant Server ABCC4_000280 233/13000 177/8598 56/4402
1 c.74+10C>T r.(=) p.(=) g.95953485G>A Copied from the Exome Variant Server ABCC4_000279 217/12996 195/8594 22/4402
1 c.74+45C>T r.(=) p.(=) g.95953450G>A Copied from the Exome Variant Server ABCC4_000278 4/12612 4/8348 0/4264
1 c.74+46C>G r.(=) p.(=) g.95953449G>C Copied from the Exome Variant Server ABCC4_000277 1/12620 1/8356 0/4264
1 c.105T>C r.(=) p.(=) g.95899977A>G Copied from the Exome Variant Server ABCC4_000276 2/13006 2/8600 0/4406
1 c.109C>T r.(?) p.(Arg37Trp) g.95899973G>A Copied from the Exome Variant Server ABCC4_000275 1/13006 1/8600 0/4406
1 c.120G>A r.(=) p.(=) g.95899962C>T Copied from the Exome Variant Server ABCC4_000274 3/13006 0/8600 3/4406
1 c.155G>A r.(?) p.(Arg52His) g.95899927C>T Copied from the Exome Variant Server ABCC4_000273 1/13006 0/8600 1/4406
1 c.185+5G>C r.spl? p.? g.95899892C>G Copied from the Exome Variant Server ABCC4_000272 1/13006 1/8600 0/4406
1 c.185+7C>T r.(=) p.(=) g.95899890G>A Copied from the Exome Variant Server ABCC4_000271 156/13006 1/8600 155/4406
1 c.185+37G>A r.(=) p.(=) g.95899860C>T Copied from the Exome Variant Server ABCC4_000270 2/13006 0/8600 2/4406
1 c.186-49T>C r.(=) p.(=) g.95899398A>G Copied from the Exome Variant Server ABCC4_000269 1/13004 1/8598 0/4406
1 c.186-22C>T r.(=) p.(=) g.95899371G>A Copied from the Exome Variant Server ABCC4_000268 3/13006 1/8600 2/4406
1 c.186-5T>C r.spl? p.? g.95899354A>G Copied from the Exome Variant Server ABCC4_000267 3546/13006 3141/8600 405/4406
1 c.233C>T r.(?) p.(Pro78Leu) g.95899302G>A Copied from the Exome Variant Server ABCC4_000266 1/13006 1/8600 0/4406
1 c.246A>C r.(?) p.(Arg82Ser) g.95899289T>G Copied from the Exome Variant Server ABCC4_000265 1/13006 1/8600 0/4406
1 c.296C>T r.(?) p.(Thr99Met) g.95899239G>A Copied from the Exome Variant Server ABCC4_000264 1/13006 1/8600 0/4406
1 c.306+34A>C r.(=) p.(=) g.95899195T>G Copied from the Exome Variant Server ABCC4_000263 1/13006 1/8600 0/4406
1 c.307-50del r.(=) p.(=) g.95887138del Copied from the Exome Variant Server ABCC4_000262 3/10282 3/6904 0/3378
1 c.307-10C>T r.(=) p.(=) g.95887098G>A Copied from the Exome Variant Server ABCC4_000261 76/12548 2/8358 74/4190
1 c.405C>T r.(=) p.(=) g.95886990G>A Copied from the Exome Variant Server ABCC4_000260 2/13006 2/8600 0/4406
1 c.434C>T r.(?) p.(Thr145Met) g.95886961G>A Copied from the Exome Variant Server ABCC4_000259 2/13006 0/8600 2/4406
1 c.450A>C r.(=) p.(=) g.95886945T>G Copied from the Exome Variant Server ABCC4_000258 7/13006 0/8600 7/4406
1 c.526C>T r.(?) p.(Arg176Trp) g.95886869G>A Copied from the Exome Variant Server ABCC4_000257 1/13006 0/8600 1/4406
1 c.531+10A>G r.(=) p.(=) g.95886854T>C Copied from the Exome Variant Server ABCC4_000256 176/13006 33/8600 143/4406
1 c.531+25T>G r.(=) p.(=) g.95886839A>C Copied from the Exome Variant Server ABCC4_000255 1/13006 0/8600 1/4406
1 c.532-24C>T r.(=) p.(=) g.95863059G>A Copied from the Exome Variant Server ABCC4_000254 2/13006 2/8600 0/4406
1 c.532-17T>C r.(=) p.(=) g.95863052A>G Copied from the Exome Variant Server ABCC4_000253 1/13006 1/8600 0/4406
1 c.551T>C r.(?) p.(Met184Thr) g.95863016A>G Copied from the Exome Variant Server ABCC4_000252 15/13006 0/8600 15/4406
1 c.559G>T r.(?) p.(Gly187Trp) g.95863008C>A Copied from the Exome Variant Server ABCC4_000251 224/13006 196/8600 28/4406
1 c.621+5G>A r.spl? p.? g.95862941C>T Copied from the Exome Variant Server ABCC4_000250 1/13006 1/8600 0/4406
1 c.621+26T>C r.(=) p.(=) g.95862920A>G Copied from the Exome Variant Server ABCC4_000249 1/13006 0/8600 1/4406
1 c.621+30T>G r.(=) p.(=) g.95862916A>C Copied from the Exome Variant Server ABCC4_000248 1/13006 0/8600 1/4406
1 c.621+50T>C r.(=) p.(=) g.95862896A>G Copied from the Exome Variant Server ABCC4_000247 9681/13006 6982/8600 2699/4406
1 c.622-36T>C r.(=) p.(=) g.95861887A>G Copied from the Exome Variant Server ABCC4_000246 1/13004 0/8600 1/4404
1 c.622-16_622-13del r.(=) p.(=) g.95861864_95861867del Copied from the Exome Variant Server ABCC4_000245 3/12518 0/8254 3/4264
1 c.629T>C r.(?) p.(Val210Ala) g.95861844A>G Copied from the Exome Variant Server ABCC4_000244 2/13006 2/8600 0/4406
1 c.665C>T r.(?) p.(Ala222Val) g.95861808G>A Copied from the Exome Variant Server ABCC4_000243 1/13006 1/8600 0/4406
1 c.669T>C r.(=) p.(=) g.95861804A>G Copied from the Exome Variant Server ABCC4_000242 10798/13006 7312/8600 3486/4406
1 c.679G>T r.(?) p.(Ala227Ser) g.95861794C>A Copied from the Exome Variant Server ABCC4_000241 1/13006 1/8600 0/4406
1 c.680C>G r.(?) p.(Ala227Gly) g.95861793G>C Copied from the Exome Variant Server ABCC4_000240 2/13006 0/8600 2/4406
1 c.684A>G r.(=) p.(=) g.95861789T>C Copied from the Exome Variant Server ABCC4_000239 1/13006 1/8600 0/4406
1 c.706T>C r.(?) p.(Ser236Pro) g.95861767A>G Copied from the Exome Variant Server ABCC4_000238 2/13006 2/8600 0/4406
1 c.708G>A r.(=) p.(=) g.95861765C>T Copied from the Exome Variant Server ABCC4_000237 1/13006 0/8600 1/4406
1 c.785+32A>G r.(=) p.(=) g.95861656T>C Copied from the Exome Variant Server ABCC4_000236 1/13006 1/8600 0/4406
1 c.786-36C>T r.(=) p.(=) g.95860215G>A Copied from the Exome Variant Server ABCC4_000235 1/13006 0/8600 1/4406
1 c.786-35G>A r.(=) p.(=) g.95860214C>T Copied from the Exome Variant Server ABCC4_000234 951/13006 844/8600 107/4406
1 c.786-26C>T r.(=) p.(=) g.95860205G>A Copied from the Exome Variant Server ABCC4_000233 1/13006 1/8600 0/4406
1 c.786-18G>A r.(=) p.(=) g.95860197C>T Copied from the Exome Variant Server ABCC4_000232 144/13006 130/8600 14/4406
1 c.867C>T r.(=) p.(=) g.95860098G>A Copied from the Exome Variant Server ABCC4_000231 1/13006 1/8600 0/4406
1 c.890A>G r.(?) p.(Asn297Ser) g.95860075T>C Copied from the Exome Variant Server ABCC4_000230 1/13006 0/8600 1/4406
1 c.896T>C r.(?) p.(Ile299Thr) g.95860069A>G Copied from the Exome Variant Server ABCC4_000229 3/13006 0/8600 3/4406
1 c.911+35A>G r.(=) p.(=) g.95860019T>C Copied from the Exome Variant Server ABCC4_000228 1/13006 1/8600 0/4406
1 c.912-23T>A r.(=) p.(=) g.95859058A>T Copied from the Exome Variant Server ABCC4_000227 1221/13006 29/8600 1192/4406
1 c.912G>T r.(?) p.(Lys304Asn) g.95859035C>A Copied from the Exome Variant Server ABCC4_000226 1360/13006 606/8600 754/4406
1 c.951A>G r.(=) p.(=) g.95858996T>C Copied from the Exome Variant Server ABCC4_000225 7295/13006 5573/8600 1722/4406
1 c.968C>T r.(?) p.(Ser323Leu) g.95858979G>A Copied from the Exome Variant Server ABCC4_000224 1/13006 0/8600 1/4406
1 c.969A>G r.(=) p.(=) g.95858978T>C Copied from the Exome Variant Server ABCC4_000223 8637/13006 5606/8600 3031/4406
1 c.994G>A r.(?) p.(Val332Met) g.95858953C>T Copied from the Exome Variant Server ABCC4_000222 2/13006 2/8600 0/4406
1 c.1027G>A r.(?) p.(Gly343Ser) g.95858920C>T Copied from the Exome Variant Server ABCC4_000221 1/13006 1/8600 0/4406
1 c.1035G>A r.(=) p.(=) g.95858912C>T Copied from the Exome Variant Server ABCC4_000220 40/13006 40/8600 0/4406
1 c.1050C>T r.(=) p.(=) g.95858897G>A Copied from the Exome Variant Server ABCC4_000219 1/13006 0/8600 1/4406
1 c.1051G>A r.(?) p.(Val351Met) g.95858896C>T Copied from the Exome Variant Server ABCC4_000218 1/13006 1/8600 0/4406
1 c.1068G>A r.(=) p.(=) g.95858879C>T Copied from the Exome Variant Server ABCC4_000217 1/13006 0/8600 1/4406
1 c.1141G>A r.(?) p.(Val381Ile) g.95858806C>T Copied from the Exome Variant Server ABCC4_000216 24/13006 22/8600 2/4406
1 c.1161+8T>A r.(=) p.(=) g.95858778A>T Copied from the Exome Variant Server ABCC4_000215 181/13006 169/8600 12/4406
1 c.1161+21_1161+22insT r.(=) p.(=) g.95858764_95858765insA Copied from the Exome Variant Server ABCC4_000214 2/12518 0/8254 2/4264
1 c.1161+25G>C r.(=) p.(=) g.95858761C>G Copied from the Exome Variant Server ABCC4_000213 1/13006 1/8600 0/4406
1 c.1161+27T>C r.(=) p.(=) g.95858759A>G Copied from the Exome Variant Server ABCC4_000212 4/13006 0/8600 4/4406
1 c.1162-3T>C r.spl? p.? g.95847194A>G Copied from the Exome Variant Server ABCC4_000211 2/13006 1/8600 1/4406
1 c.1178A>G r.(?) p.(Asp393Gly) g.95847175T>C Copied from the Exome Variant Server ABCC4_000210 1/13006 0/8600 1/4406
1 c.1198C>T r.(?) p.(Arg400Cys) g.95847155G>A Copied from the Exome Variant Server ABCC4_000209 2/13006 2/8600 0/4406
1 c.1208C>T r.(?) p.(Pro403Leu) g.95847145G>A Copied from the Exome Variant Server ABCC4_000208 15/13006 3/8600 12/4406
1 c.1263+20A>G r.(=) p.(=) g.95847070T>C Copied from the Exome Variant Server ABCC4_000207 4/13006 0/8600 4/4406
1 c.1264-53T>C r.(=) p.(=) g.95840849A>G Copied from the Exome Variant Server ABCC4_000206 5/4566 5/3182 0/1384
1 c.1264-41C>T r.(=) p.(=) g.95840837G>A Copied from the Exome Variant Server ABCC4_000205 158/13006 141/8600 17/4406
1 c.1280C>T r.(?) p.(Thr427Ile) g.95840780G>A Copied from the Exome Variant Server ABCC4_000204 1/13006 1/8600 0/4406
1 c.1289G>A r.(?) p.(Gly430Asp) g.95840771C>T Copied from the Exome Variant Server ABCC4_000203 1/13006 1/8600 0/4406
1 c.1296C>A r.(=) p.(=) g.95840764G>T Copied from the Exome Variant Server ABCC4_000202 4/13006 0/8600 4/4406
1 c.1314C>T r.(=) p.(=) g.95840746G>A Copied from the Exome Variant Server ABCC4_000201 2/13006 0/8600 2/4406
1 c.1332C>T r.(=) p.(=) g.95840728G>A Copied from the Exome Variant Server ABCC4_000200 1/13006 0/8600 1/4406
1 c.1333G>A r.(?) p.(Gly445Ser) g.95840727C>T Copied from the Exome Variant Server ABCC4_000199 3/13006 0/8600 3/4406
1 c.1353+21G>A r.(=) p.(=) g.95840686C>T Copied from the Exome Variant Server ABCC4_000198 1/13006 1/8600 0/4406
1 c.1353+33A>T r.(=) p.(=) g.95840674T>A Copied from the Exome Variant Server ABCC4_000197 3/13006 0/8600 3/4406
1 c.1353+37C>T r.(=) p.(=) g.95840670G>A Copied from the Exome Variant Server ABCC4_000196 1/13006 1/8600 0/4406
1 c.1353+44T>G r.(=) p.(=) g.95840663A>C Copied from the Exome Variant Server ABCC4_000195 13/13006 0/8600 13/4406
1 c.1353+47T>C r.(=) p.(=) g.95840660A>G Copied from the Exome Variant Server ABCC4_000194 31/13006 30/8600 1/4406
1 c.1354-25T>C r.(=) p.(=) g.95839171A>G Copied from the Exome Variant Server ABCC4_000193 18/13004 1/8598 17/4406
1 c.1354-19T>A r.(=) p.(=) g.95839165A>T Copied from the Exome Variant Server ABCC4_000192 4/13006 0/8600 4/4406
1 c.1371C>T r.(=) p.(=) g.95839129G>A Copied from the Exome Variant Server ABCC4_000191 1/13006 1/8600 0/4406
1 c.1377C>T r.(=) p.(=) g.95839123G>A Copied from the Exome Variant Server ABCC4_000190 2/13006 1/8600 1/4406
1 c.1389C>T r.(=) p.(=) g.95839111G>A Copied from the Exome Variant Server ABCC4_000189 1/13006 0/8600 1/4406
1 c.1411G>A r.(?) p.(Val471Met) g.95839089C>T Copied from the Exome Variant Server ABCC4_000188 1/13006 1/8600 0/4406
1 c.1458G>A r.(=) p.(=) g.95839042C>T Copied from the Exome Variant Server ABCC4_000187 14/13006 13/8600 1/4406
1 c.1492A>G r.(?) p.(Lys498Glu) g.95839008T>C Copied from the Exome Variant Server ABCC4_000186 56/13006 0/8600 56/4406
1 c.1497C>T r.(=) p.(=) g.95839003G>A Copied from the Exome Variant Server ABCC4_000185 1020/13006 11/8600 1009/4406
1 c.1498G>A r.(?) p.(Glu500Lys) g.95839002C>T Copied from the Exome Variant Server ABCC4_000184 4/13006 0/8600 4/4406
1 c.1545G>A r.(=) p.(=) g.95838955C>T Copied from the Exome Variant Server ABCC4_000183 4/13006 4/8600 0/4406
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