Unique variants in gene ABCA1

Information The variants shown are described using the NM_005502.3 transcript reference sequence.

447 entries on 5 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.-34C>T r.(=) p.(=) g.107665994G>A Copied from the Exome Variant Server ABCA1_000447 1/12972 0/8574 1/4398
1 c.-33G>A r.(=) p.(=) g.107665993C>T Copied from the Exome Variant Server ABCA1_000446 1/12980 0/8582 1/4398
1 c.-26A>C r.(=) p.(=) g.107665986T>G Copied from the Exome Variant Server ABCA1_000445 1/12990 1/8586 0/4404
1 c.-18G>C r.(=) p.(=) g.107665978C>G Copied from the Exome Variant Server ABCA1_000444 1159/12998 1045/8594 114/4404
1 c.-5G>A r.(=) p.(=) g.107665965C>T Copied from the Exome Variant Server ABCA1_000443 2/13002 2/8598 0/4404
1 c.8G>C r.(?) p.(Cys3Ser) g.107665953C>G Copied from the Exome Variant Server ABCA1_000442 1/13000 0/8594 1/4406
1 c.45C>T r.(=) p.(=) g.107665916G>A Copied from the Exome Variant Server ABCA1_000441 1/13006 1/8600 0/4406
1 c.66+23C>T r.(=) p.(=) g.107665872G>A Copied from the Exome Variant Server ABCA1_000440 95/12994 0/8592 95/4402
1 c.67-50T>C r.(=) p.(=) g.107651526A>G Copied from the Exome Variant Server ABCA1_000439 2500/13004 1266/8600 1234/4404
1 c.67-16C>T r.(=) p.(=) g.107651492G>A Copied from the Exome Variant Server ABCA1_000438 2/13006 0/8600 2/4406
1 c.67-9C>T r.(=) p.(=) g.107651485G>A Copied from the Exome Variant Server ABCA1_000437 2/13006 1/8600 1/4406
1 c.75G>C r.(=) p.(=) g.107651468C>G Copied from the Exome Variant Server ABCA1_000436 1/13006 0/8600 1/4406
1 c.99A>G r.(=) p.(=) g.107651444T>C Copied from the Exome Variant Server ABCA1_000435 10/13006 9/8600 1/4406
1 c.103A>G r.(?) p.(Ile35Val) g.107651440T>C Copied from the Exome Variant Server ABCA1_000434 3/13006 2/8600 1/4406
1 c.126T>C r.(=) p.(=) g.107651417A>G Copied from the Exome Variant Server ABCA1_000433 5/13006 1/8600 4/4406
1 c.160+26G>A r.(=) p.(=) g.107651357C>T Copied from the Exome Variant Server ABCA1_000432 162/13006 142/8600 20/4406
1 c.160+35A>G r.(=) p.(=) g.107651348T>C Copied from the Exome Variant Server ABCA1_000431 301/13006 2/8600 299/4406
1 c.161-47_161-46del r.(=) p.(=) g.107646895_107646896del Copied from the Exome Variant Server ABCA1_000430 2/12518 0/8254 2/4264
1 c.254C>T r.(?) p.(Pro85Leu) g.107646756G>A Copied from the Exome Variant Server ABCA1_000429 9/13006 8/8600 1/4406
1 c.302+17G>T r.(=) p.(=) g.107646691C>A Copied from the Exome Variant Server ABCA1_000428 1/13006 1/8600 0/4406
1 c.303-39C>A r.(=) p.(=) g.107645477G>T Copied from the Exome Variant Server ABCA1_000427 956/13006 64/8600 892/4406
1 c.303-23G>A r.(=) p.(=) g.107645461C>T Copied from the Exome Variant Server ABCA1_000426 1/13006 1/8600 0/4406
1 c.303-17T>C r.(=) p.(=) g.107645455A>G Copied from the Exome Variant Server ABCA1_000425 1/13006 1/8600 0/4406
1 c.303-10C>T r.(=) p.(=) g.107645448G>A Copied from the Exome Variant Server ABCA1_000424 1/13006 0/8600 1/4406
1 c.303-9C>G r.(=) p.(=) g.107645447G>C Copied from the Exome Variant Server ABCA1_000423 1/13006 1/8600 0/4406
1 c.310C>T r.(?) p.(Arg104Cys) g.107645431G>A Copied from the Exome Variant Server ABCA1_000422 1/13006 0/8600 1/4406
1 c.319T>G r.(?) p.(Ser107Ala) g.107645422A>C Copied from the Exome Variant Server ABCA1_000421 1/13006 0/8600 1/4406
1 c.377G>A r.(?) p.(Arg126His) g.107645364C>T Copied from the Exome Variant Server ABCA1_000420 1/13006 1/8600 0/4406
1 c.415A>G r.(?) p.(Ser139Gly) g.107645326T>C Copied from the Exome Variant Server ABCA1_000419 1/13006 1/8600 0/4406
1 c.421+25C>T r.(=) p.(=) g.107645295G>A Copied from the Exome Variant Server ABCA1_000418 98/13006 2/8600 96/4406
1 c.421+30A>G r.(=) p.(=) g.107645290T>C Copied from the Exome Variant Server ABCA1_000417 6/13006 0/8600 6/4406
1 c.467G>T r.(?) p.(Gly156Val) g.107624036C>A Copied from the Exome Variant Server ABCA1_000416 1/13006 1/8600 0/4406
1 c.474G>A r.(=) p.(=) g.107624029C>T Copied from the Exome Variant Server ABCA1_000415 4191/13006 2281/8600 1910/4406
1 c.497A>G r.(?) p.(Lys166Arg) g.107624006T>C Copied from the Exome Variant Server ABCA1_000414 1/13006 1/8600 0/4406
1 c.537C>G r.(=) p.(=) g.107623966G>C Copied from the Exome Variant Server ABCA1_000413 1/13006 0/8600 1/4406
1 c.543+24T>C r.(=) p.(=) g.107623936A>G Copied from the Exome Variant Server ABCA1_000412 1/13006 1/8600 0/4406
1 c.543+32G>C r.(=) p.(=) g.107623928C>G Copied from the Exome Variant Server ABCA1_000411 1/13006 1/8600 0/4406
1 c.543+46C>T r.(=) p.(=) g.107623914G>A Copied from the Exome Variant Server ABCA1_000410 1/13006 1/8600 0/4406
1 c.543+49T>G r.(=) p.(=) g.107623911A>C Copied from the Exome Variant Server ABCA1_000409 1/13006 1/8600 0/4406
1 c.544-4C>T r.spl? p.? g.107620983G>A Copied from the Exome Variant Server ABCA1_000408 1/13006 0/8600 1/4406
1 c.551T>C r.(?) p.(Leu184Ser) g.107620972A>G Copied from the Exome Variant Server ABCA1_000407 1/13006 1/8600 0/4406
1 c.613C>G r.(?) p.(Gln205Glu) g.107620910G>C Copied from the Exome Variant Server ABCA1_000406 1/13006 0/8600 1/4406
1 c.614A>G r.(?) p.(Gln205Arg) g.107620909T>C Copied from the Exome Variant Server ABCA1_000405 1/13006 1/8600 0/4406
1 c.634T>A r.(?) p.(Ser212Thr) g.107620889A>T Copied from the Exome Variant Server ABCA1_000404 61/13006 1/8600 60/4406
1 c.651A>G r.(=) p.(=) g.107620872T>C Copied from the Exome Variant Server ABCA1_000402 51/13006 0/8600 51/4406
1 c.656G>A r.(?) p.(Arg219Lys) g.107620867C>T Copied from the Exome Variant Server ABCA1_000400 5092/13006 2420/8600 2672/4406
1 c.677A>G r.(?) p.(Glu226Gly) g.107620846T>C Copied from the Exome Variant Server ABCA1_000398 2/13006 2/8600 0/4406
1 c.688C>T r.(?) p.(Arg230Cys) g.107620835G>A Copied from the Exome Variant Server ABCA1_000396 6/13006 1/8600 5/4406
1 c.708G>T r.(=) p.(=) g.107620815C>A Copied from the Exome Variant Server ABCA1_000394 1/13006 1/8600 0/4406
1 c.720+6T>C r.(=) p.(=) g.107620797A>G Copied from the Exome Variant Server ABCA1_000403 7/13006 7/8600 0/4406
1 c.720+35A>T r.(=) p.(=) g.107620768T>A Copied from the Exome Variant Server ABCA1_000401 1/13006 0/8600 1/4406
1 c.720+2505C>T r.(=) p.(=) g.107618298G>A Copied from the Exome Variant Server ABCA1_000399 50/5734 47/3982 3/1752
1 c.720+2549C>A r.(=) p.(=) g.107618254G>T Copied from the Exome Variant Server ABCA1_000397 2/5734 2/3982 0/1752
1 c.720+2622C>T r.(=) p.(=) g.107618181G>A Copied from the Exome Variant Server ABCA1_000395 1/5734 1/3982 0/1752
1 c.720+2623G>A r.(=) p.(=) g.107618180C>T Copied from the Exome Variant Server ABCA1_000393 1/5734 0/3982 1/1752
1 c.720+2642C>T r.(=) p.(=) g.107618161G>A Copied from the Exome Variant Server ABCA1_000392 7/5734 0/3982 7/1752
1 c.720+2647A>G r.(=) p.(=) g.107618156T>C Copied from the Exome Variant Server ABCA1_000391 1/5734 1/3982 0/1752
1 c.720+2682A>G r.(=) p.(=) g.107618121T>C Copied from the Exome Variant Server ABCA1_000390 1/5734 1/3982 0/1752
1 c.721-44G>A r.(=) p.(=) g.107607894C>T Copied from the Exome Variant Server ABCA1_000389 1/13006 0/8600 1/4406
1 c.721-10del r.(=) p.(=) g.107607860del Copied from the Exome Variant Server ABCA1_000388 14/12518 0/8254 14/4264
1 c.742C>G r.(?) p.(Pro248Ala) g.107607829G>C Copied from the Exome Variant Server ABCA1_000387 13/13006 0/8600 13/4406
1 c.749C>T r.(?) p.(Pro250Leu) g.107607822G>A Copied from the Exome Variant Server ABCA1_000386 2/13006 2/8600 0/4406
1 c.813+17C>T r.(=) p.(=) g.107607741G>A Copied from the Exome Variant Server ABCA1_000385 235/13006 1/8600 234/4406
1 c.813+31G>A r.(=) p.(=) g.107607727C>T Copied from the Exome Variant Server ABCA1_000384 10/13006 1/8600 9/4406
1 c.813+43G>C r.(=) p.(=) g.107607715C>G Copied from the Exome Variant Server ABCA1_000383 3/13006 3/8600 0/4406
1 c.813+51A>G r.(=) p.(=) g.107607707T>C Copied from the Exome Variant Server ABCA1_000382 1/13006 1/8600 0/4406
1 c.814-29C>G r.(=) p.(=) g.107602829G>C Copied from the Exome Variant Server ABCA1_000381 1/13006 1/8600 0/4406
1 c.814-14_814-13insA r.(=) p.(=) g.107602813_107602814insT Copied from the Exome Variant Server ABCA1_000380 1322/12516 555/8254 767/4262
1 c.814-6C>T r.(=) p.(=) g.107602806G>A Copied from the Exome Variant Server ABCA1_000379 2/13006 2/8600 0/4406
1 c.844C>T r.(?) p.(Arg282*) g.107602770G>A Copied from the Exome Variant Server ABCA1_000378 1/13006 1/8600 0/4406
1 c.916C>G r.(?) p.(Arg306Gly) g.107602698G>C Copied from the Exome Variant Server ABCA1_000377 1/13006 0/8600 1/4406
1 c.917G>A r.(?) p.(Arg306His) g.107602697C>T Copied from the Exome Variant Server ABCA1_000376 2/13006 0/8600 2/4406
1 c.936C>T r.(=) p.(=) g.107602678G>A Copied from the Exome Variant Server ABCA1_000375 1287/13006 862/8600 425/4406
1 c.943G>T r.(?) p.(Gly315Trp) g.107602671C>A Copied from the Exome Variant Server ABCA1_000374 1/13006 1/8600 0/4406
1 c.948G>A r.(=) p.(=) g.107602666C>T Copied from the Exome Variant Server ABCA1_000373 1943/13006 965/8600 978/4406
1 c.1028C>T r.(?) p.(Ala343Val) g.107602586G>A Copied from the Exome Variant Server ABCA1_000372 3/13006 3/8600 0/4406
1 c.1038C>G r.(?) p.(Phe346Leu) g.107602576G>C Copied from the Exome Variant Server ABCA1_000371 1/13006 0/8600 1/4406
1 c.1054+14C>G r.(=) p.(=) g.107602546G>C Copied from the Exome Variant Server ABCA1_000370 3/13006 3/8600 0/4406
1 c.1055-35T>C r.(=) p.(=) g.107599883A>G Copied from the Exome Variant Server ABCA1_000369 1/13006 1/8600 0/4406
1 c.1055-18C>T r.(=) p.(=) g.107599866G>A Copied from the Exome Variant Server ABCA1_000368 1/13006 0/8600 1/4406
1 c.1055-7T>C r.(=) p.(=) g.107599855A>G Copied from the Exome Variant Server ABCA1_000367 7/13006 7/8600 0/4406
1 c.1074G>A r.(=) p.(=) g.107599829C>T Copied from the Exome Variant Server ABCA1_000366 1/13006 0/8600 1/4406
1 c.1106G>A r.(?) p.(Arg369His) g.107599797C>T Copied from the Exome Variant Server ABCA1_000365 1/13006 1/8600 0/4406
1 c.1164C>T r.(=) p.(=) g.107599739G>A Copied from the Exome Variant Server ABCA1_000364 1/13006 0/8600 1/4406
1 c.1171G>T r.(?) p.(Ala391Ser) g.107599732C>A Copied from the Exome Variant Server ABCA1_000363 1/13006 0/8600 1/4406
1 c.1194+15G>C r.(=) p.(=) g.107599694C>G Copied from the Exome Variant Server ABCA1_000362 1/13006 0/8600 1/4406
1 c.1194+30C>T r.(=) p.(=) g.107599679G>A Copied from the Exome Variant Server ABCA1_000361 1/13006 1/8600 0/4406
1 c.1195-38_1195-36del r.(=) p.(=) g.107599413_107599415del Copied from the Exome Variant Server ABCA1_000360 1779/12518 887/8254 892/4264
1 c.1195-28C>T r.(=) p.(=) g.107599405G>A Copied from the Exome Variant Server ABCA1_000359 146/13006 2/8600 144/4406
1 c.1195-27G>T r.(=) p.(=) g.107599404C>A Copied from the Exome Variant Server ABCA1_000358 1/13006 1/8600 0/4406
1 c.1195-13C>T r.(=) p.(=) g.107599390G>A Copied from the Exome Variant Server ABCA1_000357 660/13006 563/8600 97/4406
1 c.1195-8G>A r.(=) p.(=) g.107599385C>T Copied from the Exome Variant Server ABCA1_000356 2/13006 2/8600 0/4406
1 c.1196T>C r.(?) p.(Val399Ala) g.107599376A>G Copied from the Exome Variant Server ABCA1_000355 50/13006 47/8600 3/4406
1 c.1201A>C r.(?) p.(Lys401Gln) g.107599371T>G Copied from the Exome Variant Server ABCA1_000354 2/13006 2/8600 0/4406
1 c.1302C>G r.(?) p.(Asp434Glu) g.107599270G>C Copied from the Exome Variant Server ABCA1_000353 2/13006 2/8600 0/4406
1 c.1309C>T r.(?) p.(Arg437Trp) g.107599263G>A Copied from the Exome Variant Server ABCA1_000351 2/13006 2/8600 0/4406
1 c.1310G>A r.(?) p.(Arg437Gln) g.107599262C>T Copied from the Exome Variant Server ABCA1_000349 1/13006 0/8600 1/4406
1 c.1311G>A r.(=) p.(=) g.107599261C>T Copied from the Exome Variant Server ABCA1_000347 1/13006 0/8600 1/4406
1 c.1312-45A>T r.(=) p.(=) g.107595097T>A Copied from the Exome Variant Server ABCA1_000345 1/13006 1/8600 0/4406
1 c.1312-27A>G r.(=) p.(=) g.107595079T>C Copied from the Exome Variant Server ABCA1_000352 1/13006 1/8600 0/4406
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