Unique variants in gene ABCA5

Information The variants shown are described using the NM_018672.3 transcript reference sequence.

320 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.-48C>T r.(=) p.(=) g.67310604G>A Copied from the Exome Variant Server ABCA5_000320 1/13006 1/8600 0/4406
1 c.-47G>A r.(=) p.(=) g.67310603C>T Copied from the Exome Variant Server ABCA5_000319 1/13006 1/8600 0/4406
1 c.-33_-30del r.(=) p.(=) g.67310586_67310589del Copied from the Exome Variant Server ABCA5_000318 7/12516 2/8252 5/4264
1 c.-33_-30dup r.(=) p.(=) g.67310586_67310589dup Copied from the Exome Variant Server ABCA5_000317 19/12516 15/8252 4/4264
1 c.-24C>G r.(=) p.(=) g.67310580G>C Copied from the Exome Variant Server ABCA5_000316 7/13006 2/8600 5/4406
1 c.41C>T r.(?) p.(Thr14Ile) g.67310516G>A Copied from the Exome Variant Server ABCA5_000315 4/13006 0/8600 4/4406
1 c.48A>G r.(=) p.(=) g.67310509T>C Copied from the Exome Variant Server ABCA5_000314 4/13006 0/8600 4/4406
1 c.101A>C r.(?) p.(Gln34Pro) g.67310456T>G Copied from the Exome Variant Server ABCA5_000312 1/13006 1/8600 0/4406
1 c.102+3A>T r.spl? p.? g.67310452T>A Copied from the Exome Variant Server ABCA5_000310 7/13006 0/8600 7/4406
1 c.102+10_102+13del r.(=) p.(=) g.67310442_67310445del Copied from the Exome Variant Server ABCA5_000308 19/12518 14/8254 5/4264
1 c.102+38T>G r.(=) p.(=) g.67310417A>C Copied from the Exome Variant Server ABCA5_000306 3/13000 0/8596 3/4404
1 c.190A>G r.(?) p.(Ile64Val) g.67309350T>C Copied from the Exome Variant Server ABCA5_000313 1/12998 1/8594 0/4404
1 c.212A>G r.(?) p.(Lys71Arg) g.67309328T>C Copied from the Exome Variant Server ABCA5_000311 1/13000 1/8594 0/4406
1 c.232A>G r.(?) p.(Ile78Val) g.67309308T>C Copied from the Exome Variant Server ABCA5_000309 1/12992 1/8586 0/4406
1 c.242A>G r.(?) p.(Tyr81Cys) g.67309298T>C Copied from the Exome Variant Server ABCA5_000307 2/12984 2/8578 0/4406
1 c.248C>T r.(?) p.(Pro83Leu) g.67309292G>A Copied from the Exome Variant Server ABCA5_000305 1/12982 1/8576 0/4406
1 c.269G>A r.(?) p.(Ser90Asn) g.67309271C>T Copied from the Exome Variant Server ABCA5_000304 3/12984 0/8578 3/4406
1 c.296A>G r.(?) p.(His99Arg) g.67309244T>C Copied from the Exome Variant Server ABCA5_000303 7/12994 0/8588 7/4406
1 c.300A>G r.(=) p.(=) g.67309240T>C Copied from the Exome Variant Server ABCA5_000302 1/12994 0/8588 1/4406
1 c.307+18A>G r.(=) p.(=) g.67309215T>C Copied from the Exome Variant Server ABCA5_000301 1/12990 1/8586 0/4404
1 c.307+23_307+24insGT r.(=) p.(=) g.67309209_67309210insAC Copied from the Exome Variant Server ABCA5_000300 2/12490 0/8234 2/4256
1 c.308-45G>A r.(=) p.(=) g.67305609C>T Copied from the Exome Variant Server ABCA5_000299 47/12996 0/8592 47/4404
1 c.308-19T>C r.(=) p.(=) g.67305583A>G Copied from the Exome Variant Server ABCA5_000298 1/12998 1/8592 0/4406
1 c.308-14A>G r.(=) p.(=) g.67305578T>C Copied from the Exome Variant Server ABCA5_000297 20/13000 0/8594 20/4406
1 c.308-13T>C r.(=) p.(=) g.67305577A>G Copied from the Exome Variant Server ABCA5_000296 2/13000 0/8594 2/4406
1 c.308-12_308-10del r.(=) p.(=) g.67305574_67305576del Copied from the Exome Variant Server ABCA5_000295 1/12514 1/8250 0/4264
1 c.308-5T>C r.spl? p.? g.67305569A>G Copied from the Exome Variant Server ABCA5_000294 8/13004 8/8598 0/4406
1 c.327T>C r.(=) p.(=) g.67305545A>G Copied from the Exome Variant Server ABCA5_000293 1/13006 1/8600 0/4406
1 c.360_363del r.(?) p.(Lys122Argfs*5) g.67305509_67305512del Copied from the Exome Variant Server ABCA5_000292 1/12518 0/8254 1/4264
1 c.368C>T r.(?) p.(Pro123Leu) g.67305504G>A Copied from the Exome Variant Server ABCA5_000291 2/13006 0/8600 2/4406
1 c.369G>A r.(=) p.(=) g.67305503C>T Copied from the Exome Variant Server ABCA5_000290 5/13006 0/8600 5/4406
1 c.371G>A r.(?) p.(Ser124Asn) g.67305501C>T Copied from the Exome Variant Server ABCA5_000289 1/13006 0/8600 1/4406
1 c.410A>G r.(?) p.(Tyr137Cys) g.67305462T>C Copied from the Exome Variant Server ABCA5_000288 1/13002 0/8596 1/4406
1 c.433A>G r.(?) p.(Met145Val) g.67305439T>C Copied from the Exome Variant Server ABCA5_000287 2/13004 2/8598 0/4406
1 c.449C>T r.(?) p.(Ser150Phe) g.67305423G>A Copied from the Exome Variant Server ABCA5_000286 1/13006 0/8600 1/4406
1 c.469+37A>G r.(=) p.(=) g.67305366T>C Copied from the Exome Variant Server ABCA5_000285 1/13004 1/8600 0/4404
1 c.469+39G>A r.(=) p.(=) g.67305364C>T Copied from the Exome Variant Server ABCA5_000284 1363/13004 1191/8600 172/4404
1 c.470-3T>C r.spl? p.? g.67304512A>G Copied from the Exome Variant Server ABCA5_000283 1/13004 1/8598 0/4406
1 c.481A>G r.(?) p.(Lys161Glu) g.67304498T>C Copied from the Exome Variant Server ABCA5_000282 2/13006 0/8600 2/4406
1 c.532G>A r.(?) p.(Ala178Thr) g.67304447C>T Copied from the Exome Variant Server ABCA5_000281 1968/13006 1225/8600 743/4406
1 c.558+18A>C r.(=) p.(=) g.67304403T>G Copied from the Exome Variant Server ABCA5_000280 26/13006 23/8600 3/4406
1 c.559-42A>G r.(=) p.(=) g.67303137T>C Copied from the Exome Variant Server ABCA5_000279 1/12804 0/8520 1/4284
1 c.559-38C>G r.(=) p.(=) g.67303133G>C Copied from the Exome Variant Server ABCA5_000278 1/12822 0/8528 1/4294
1 c.569A>G r.(?) p.(Asn190Ser) g.67303085T>C Copied from the Exome Variant Server ABCA5_000277 13/12976 6/8584 7/4392
1 c.706T>C r.(=) p.(=) g.67302948A>G Copied from the Exome Variant Server ABCA5_000276 1/12992 1/8590 0/4402
1 c.742del r.(?) p.(Ile248*) g.67302912del Copied from the Exome Variant Server ABCA5_000275 125/12180 81/8096 44/4084
1 c.781G>T r.(?) p.(Ala261Ser) g.67302873C>A Copied from the Exome Variant Server ABCA5_000274 12/11936 0/8024 12/3912
1 c.789-49G>A r.(=) p.(=) g.67301000C>T Copied from the Exome Variant Server ABCA5_000273 1/12948 0/8554 1/4394
1 c.789-8del r.(=) p.(=) g.67300959del Copied from the Exome Variant Server ABCA5_000272 16/12508 0/8244 16/4264
1 c.815G>C r.(?) p.(Ser272Thr) g.67300925C>G Copied from the Exome Variant Server ABCA5_000271 14/12996 1/8590 13/4406
1 c.854C>T r.(?) p.(Ala285Val) g.67300886G>A Copied from the Exome Variant Server ABCA5_000270 2/12996 1/8590 1/4406
1 c.855G>A r.(=) p.(=) g.67300885C>T Copied from the Exome Variant Server ABCA5_000269 1/12996 1/8590 0/4406
1 c.863C>G r.(?) p.(Ser288Cys) g.67300877G>C Copied from the Exome Variant Server ABCA5_000268 1/12996 1/8590 0/4406
1 c.870A>G r.(=) p.(=) g.67300870T>C Copied from the Exome Variant Server ABCA5_000267 1/12998 1/8592 0/4406
1 c.911del r.(?) p.(Phe304Serfs*12) g.67300829del Copied from the Exome Variant Server ABCA5_000266 60/12508 43/8244 17/4264
1 c.918T>C r.(=) p.(=) g.67300822A>G Copied from the Exome Variant Server ABCA5_000265 1/12996 1/8590 0/4406
1 c.921A>G r.(=) p.(=) g.67300819T>C Copied from the Exome Variant Server ABCA5_000263 1/12996 0/8590 1/4406
1 c.930+10T>G r.(=) p.(=) g.67300800A>C Copied from the Exome Variant Server ABCA5_000261 2/12990 2/8590 0/4400
1 c.931-28C>T r.(=) p.(=) g.67299075G>A Copied from the Exome Variant Server ABCA5_000259 3/12622 3/8438 0/4184
1 c.977_978del r.(?) p.(His326Argfs*5) g.67299000_67299001del Copied from the Exome Variant Server ABCA5_000257 1/12518 0/8254 1/4264
1 c.1062G>A r.(=) p.(=) g.67298916C>T Copied from the Exome Variant Server ABCA5_000255 20/13004 18/8598 2/4406
1 c.1067T>A r.(?) p.(Val356Glu) g.67298911A>T Copied from the Exome Variant Server ABCA5_000264 1/13004 1/8598 0/4406
1 c.1119+11T>C r.(=) p.(=) g.67298848A>G Copied from the Exome Variant Server ABCA5_000262 24/13002 0/8596 24/4406
1 c.1119+33T>G r.(=) p.(=) g.67298826A>C Copied from the Exome Variant Server ABCA5_000260 1/12998 1/8592 0/4406
1 c.1120-31A>G r.(=) p.(=) g.67297458T>C Copied from the Exome Variant Server ABCA5_000258 16/12978 0/8586 16/4392
1 c.1120-26A>G r.(=) p.(=) g.67297453T>C Copied from the Exome Variant Server ABCA5_000256 1/12988 1/8588 0/4400
1 c.1120-9A>G r.(=) p.(=) g.67297436T>C Copied from the Exome Variant Server ABCA5_000254 1/12998 0/8592 1/4406
1 c.1181A>G r.(?) p.(Tyr394Cys) g.67297366T>C Copied from the Exome Variant Server ABCA5_000253 1/13004 1/8598 0/4406
1 c.1268-50G>T r.(=) p.(=) g.67293550C>A Copied from the Exome Variant Server ABCA5_000252 15/12922 14/8550 1/4372
1 c.1268-35T>C r.(=) p.(=) g.67293535A>G Copied from the Exome Variant Server ABCA5_000251 12421/12962 8566/8570 3855/4392
1 c.1268-14T>C r.(=) p.(=) g.67293514A>G Copied from the Exome Variant Server ABCA5_000250 13/12978 0/8580 13/4398
1 c.1283G>A r.(?) p.(Arg428Gln) g.67293485C>T Copied from the Exome Variant Server ABCA5_000249 1/12992 1/8586 0/4406
1 c.1309C>G r.(?) p.(Pro437Ala) g.67293459G>C Copied from the Exome Variant Server ABCA5_000248 5/12994 0/8588 5/4406
1 c.1347G>A r.(=) p.(=) g.67293421C>T Copied from the Exome Variant Server ABCA5_000247 1/12996 0/8590 1/4406
1 c.1405T>G r.(?) p.(Ser469Ala) g.67293363A>C Copied from the Exome Variant Server ABCA5_000246 245/12998 3/8592 242/4406
1 c.1431C>G r.(=) p.(=) g.67293337G>C Copied from the Exome Variant Server ABCA5_000245 2/12992 0/8588 2/4404
1 c.1436+4T>C r.spl? p.? g.67293328A>G Copied from the Exome Variant Server ABCA5_000244 1/12990 0/8588 1/4402
1 c.1442G>A r.(?) p.(Ser481Asn) g.67290849C>T Copied from the Exome Variant Server ABCA5_000243 1/13000 1/8594 0/4406
1 c.1451A>G r.(?) p.(Gln484Arg) g.67290840T>C Copied from the Exome Variant Server ABCA5_000242 2272/13002 1232/8596 1040/4406
1 c.1456A>G r.(?) p.(Thr486Ala) g.67290835T>C Copied from the Exome Variant Server ABCA5_000241 2/13002 2/8596 0/4406
1 c.1479T>C r.(=) p.(=) g.67290812A>G Copied from the Exome Variant Server ABCA5_000240 3/13004 3/8598 0/4406
1 c.1495+17G>T r.(=) p.(=) g.67290779C>A Copied from the Exome Variant Server ABCA5_000239 1/13004 0/8598 1/4406
1 c.1567T>C r.(=) p.(=) g.67287396A>G Copied from the Exome Variant Server ABCA5_000238 1/13006 0/8600 1/4406
1 c.1587A>G r.(=) p.(=) g.67287376T>C Copied from the Exome Variant Server ABCA5_000237 4/13004 0/8600 4/4404
1 c.1605T>C r.(=) p.(=) g.67287358A>G Copied from the Exome Variant Server ABCA5_000236 387/13004 345/8600 42/4404
1 c.1606+27del r.(=) p.(=) g.67287330del Copied from the Exome Variant Server ABCA5_000235 183/12504 93/8246 90/4258
1 c.1606+27dup r.(=) p.(=) g.67287330dup Copied from the Exome Variant Server ABCA5_000234 4666/12504 3739/8246 927/4258
1 c.1606+27_1606+29del r.(=) p.(=) g.67287328_67287330del Copied from the Exome Variant Server ABCA5_000233 7/12504 5/8246 2/4258
1 c.1606+40T>C r.(=) p.(=) g.67287317A>G Copied from the Exome Variant Server ABCA5_000232 1/12934 0/8560 1/4374
1 c.1607-7del r.(=) p.(=) g.67286185del Copied from the Exome Variant Server ABCA5_000231 3/12482 2/8224 1/4258
1 c.1622A>G r.(?) p.(Tyr541Cys) g.67286163T>C Copied from the Exome Variant Server ABCA5_000230 1/12990 1/8586 0/4404
1 c.1663A>C r.(=) p.(=) g.67286122T>G Copied from the Exome Variant Server ABCA5_000229 1/12992 1/8588 0/4404
1 c.1676G>A r.(?) p.(Gly559Asp) g.67286109C>T Copied from the Exome Variant Server ABCA5_000228 1/12988 0/8586 1/4402
1 c.1699C>T r.(?) p.(His567Tyr) g.67286086G>A Copied from the Exome Variant Server ABCA5_000227 1/12988 0/8584 1/4404
1 c.1727A>C r.(?) p.(Asn576Thr) g.67286058T>G Copied from the Exome Variant Server ABCA5_000226 1/12990 0/8588 1/4402
1 c.1748_1751del r.(?) p.(Ile583Lysfs*8) g.67286034_67286037del Copied from the Exome Variant Server ABCA5_000225 46/12500 32/8242 14/4258
1 c.1754G>T r.(?) p.(Gly585Val) g.67286031C>A Copied from the Exome Variant Server ABCA5_000224 1/12992 1/8590 0/4402
1 c.1756A>T r.(?) p.(Ile586Leu) g.67286029T>A Copied from the Exome Variant Server ABCA5_000223 1/12994 1/8592 0/4402
1 c.1781A>C r.(?) p.(Glu594Ala) g.67286004T>G Copied from the Exome Variant Server ABCA5_000222 1/12986 1/8584 0/4402
1 c.1782+4T>C r.spl? p.? g.67285999A>G Copied from the Exome Variant Server ABCA5_000221 1/12988 0/8584 1/4404
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