Full data view for gene ABCA8

Information The variants shown are described using the NM_007168.2 transcript reference sequence.

345 entries on 4 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.1A>T r.? p.? g.66938175T>A Copied from the Exome Variant Server ABCA8_000345 1/13004 1/8598 0/4406 - - - - - - -
?/? c.35C>G r.(?) p.(Thr12Ser) g.66938141G>C Copied from the Exome Variant Server ABCA8_000344 298/13002 7/8596 291/4406 - - - - - - -
?/? c.60T>C r.(=) p.(=) g.66938116A>G Copied from the Exome Variant Server ABCA8_000343 1/13004 0/8600 1/4404 - - - - - - -
?/? c.78G>A r.(?) p.(Met26Ile) g.66938098C>T Copied from the Exome Variant Server ABCA8_000342 42/13004 0/8600 42/4404 - - - - - - -
?/? c.96+17G>A r.(=) p.(=) g.66938063C>T Copied from the Exome Variant Server ABCA8_000341 2/13002 0/8598 2/4404 - - - - - - -
?/? c.97-24del r.(=) p.(=) g.66937127del Copied from the Exome Variant Server ABCA8_000340 1/12378 1/8180 0/4198 - - - - - - -
?/? c.97-11G>A r.(=) p.(=) g.66937114C>T Copied from the Exome Variant Server ABCA8_000339 1/12960 1/8578 0/4382 - - - - - - -
?/? c.104T>A r.(?) p.(Leu35Gln) g.66937096A>T Copied from the Exome Variant Server ABCA8_000338 1/13004 1/8598 0/4406 - - - - - - -
?/? c.122T>C r.(?) p.(Leu41Pro) g.66937078A>G Copied from the Exome Variant Server ABCA8_000337 2/13002 2/8598 0/4404 - - - - - - -
?/? c.196C>T r.(?) p.(Arg66Trp) g.66937004G>A Copied from the Exome Variant Server ABCA8_000336 12/13006 10/8600 2/4406 - - - - - - -
?/? c.254C>G r.(?) p.(Thr85Arg) g.66936946G>C Copied from the Exome Variant Server ABCA8_000335 1/13006 1/8600 0/4406 - - - - - - -
?/? c.258C>A r.(=) p.(=) g.66936942G>T Copied from the Exome Variant Server ABCA8_000334 33/13006 0/8600 33/4406 - - - - - - -
?/? c.302-32A>G r.(=) p.(=) g.66933288T>C Copied from the Exome Variant Server ABCA8_000333 1/12990 0/8588 1/4402 - - - - - - -
?/? c.324A>G r.(=) p.(=) g.66933234T>C Copied from the Exome Variant Server ABCA8_000332 2/13006 0/8600 2/4406 - - - - - - -
?/? c.333A>G r.(=) p.(=) g.66933225T>C Copied from the Exome Variant Server ABCA8_000331 5/13006 0/8600 5/4406 - - - - - - -
?/? c.383C>T r.(?) p.(Thr128Ile) g.66933175G>A Copied from the Exome Variant Server ABCA8_000330 6/13006 6/8600 0/4406 - - - - - - -
?/? c.402A>G r.(=) p.(=) g.66933156T>C Copied from the Exome Variant Server ABCA8_000329 32/13006 0/8600 32/4406 - - - - - - -
?/? c.438A>G r.(=) p.(=) g.66933120T>C Copied from the Exome Variant Server ABCA8_000328 1/13006 0/8600 1/4406 - - - - - - -
?/? c.448G>A r.(?) p.(Glu150Lys) g.66933110C>T Copied from the Exome Variant Server ABCA8_000327 1/13006 1/8600 0/4406 - - - - - - -
?/? c.466+10T>C r.(=) p.(=) g.66933082A>G Copied from the Exome Variant Server ABCA8_000326 1/13006 1/8600 0/4406 - - - - - - -
?/? c.466+31C>A r.(=) p.(=) g.66933061G>T Copied from the Exome Variant Server ABCA8_000325 1/13006 0/8600 1/4406 - - - - - - -
?/? c.467-26T>C r.(=) p.(=) g.66929438A>G Copied from the Exome Variant Server ABCA8_000324 1/13000 0/8594 1/4406 - - - - - - -
?/? c.482C>G r.(?) p.(Thr161Arg) g.66929397G>C Copied from the Exome Variant Server ABCA8_000323 3/13002 0/8596 3/4406 - - - - - - -
?/? c.497A>C r.(?) p.(Tyr166Ser) g.66929382T>G Copied from the Exome Variant Server ABCA8_000322 13/13002 0/8596 13/4406 - - - - - - -
?/? c.555T>C r.(=) p.(=) g.66929324A>G Copied from the Exome Variant Server ABCA8_000321 1/13000 1/8594 0/4406 - - - - - - -
?/? c.570+10A>C r.(=) p.(=) g.66929299T>G Copied from the Exome Variant Server ABCA8_000320 1/12998 1/8592 0/4406 - - - - - - -
?/? c.570+33T>C r.(=) p.(=) g.66929276A>G Copied from the Exome Variant Server ABCA8_000319 43/12998 37/8592 6/4406 - - - - - - -
?/? c.571-40C>T r.(=) p.(=) g.66928695G>A Copied from the Exome Variant Server ABCA8_000318 1/12998 1/8600 0/4398 - - - - - - -
?/? c.571-33G>A r.(=) p.(=) g.66928688C>T Copied from the Exome Variant Server ABCA8_000317 1064/13000 17/8600 1047/4400 - - - - - - -
?/? c.573_574insC r.(?) p.(Thr192Hisfs*32) g.66928652_66928653insG Copied from the Exome Variant Server ABCA8_000316 2/12518 2/8254 0/4264 - - - - - - -
?/? c.620A>G r.(?) p.(Lys207Arg) g.66928606T>C Copied from the Exome Variant Server ABCA8_000315 2/13006 0/8600 2/4406 - - - - - - -
?/? c.663A>G r.(?) p.(Ile221Met) g.66928563T>C Copied from the Exome Variant Server ABCA8_000314 1/13006 1/8600 0/4406 - - - - - - -
?/? c.681T>C r.(=) p.(=) g.66928545A>G Copied from the Exome Variant Server ABCA8_000313 843/13006 9/8600 834/4406 - - - - - - -
?/? c.688A>G r.(?) p.(Ile230Val) g.66928538T>C Copied from the Exome Variant Server ABCA8_000312 9/13006 0/8600 9/4406 - - - - - - -
?/? c.748A>G r.(?) p.(Arg250Gly) g.66928478T>C Copied from the Exome Variant Server ABCA8_000311 1/13006 0/8600 1/4406 - - - - - - -
?/? c.753G>A r.(?) p.(Met251Ile) g.66928473C>T Copied from the Exome Variant Server ABCA8_000310 108/13006 12/8600 96/4406 - - - - - - -
?/? c.764T>C r.(?) p.(Met255Thr) g.66928462A>G Copied from the Exome Variant Server ABCA8_000309 1/13006 0/8600 1/4406 - - - - - - -
?/? c.766A>G r.(?) p.(Thr256Ala) g.66928460T>C Copied from the Exome Variant Server ABCA8_000308 1075/13006 17/8600 1058/4406 - - - - - - -
?/? c.778C>A r.(?) p.(Leu260Ile) g.66928448G>T Copied from the Exome Variant Server ABCA8_000307 1/13006 0/8600 1/4406 - - - - - - -
?/? c.788C>T r.(?) p.(Ser263Leu) g.66928438G>A Copied from the Exome Variant Server ABCA8_000306 1/13006 1/8600 0/4406 - - - - - - -
?/? c.792G>A r.(=) p.(=) g.66928434C>T Copied from the Exome Variant Server ABCA8_000305 219/13006 153/8600 66/4406 - - - - - - -
?/? c.797+1G>C r.spl? p.? g.66928428C>G Copied from the Exome Variant Server ABCA8_000304 4/13006 2/8600 2/4406 - - - - - - -
?/? c.797+25A>G r.(=) p.(=) g.66928404T>C Copied from the Exome Variant Server ABCA8_000303 1/13006 1/8600 0/4406 - - - - - - -
?/? c.797+30C>T r.(=) p.(=) g.66928399G>A Copied from the Exome Variant Server ABCA8_000302 1/13006 1/8600 0/4406 - - - - - - -
?/? c.798-50_798-45del r.(=) p.(=) g.66925888_66925893del Copied from the Exome Variant Server ABCA8_000301 33/12518 0/8254 33/4264 - - - - - - -
?/? c.801C>G r.(=) p.(=) g.66925840G>C Copied from the Exome Variant Server ABCA8_000300 18/13006 0/8600 18/4406 - - - - - - -
?/? c.818A>G r.(?) p.(Tyr273Cys) g.66925823T>C Copied from the Exome Variant Server ABCA8_000299 1/13006 1/8600 0/4406 - - - - - - -
?/? c.838A>G r.(?) p.(Met280Val) g.66925803T>C Copied from the Exome Variant Server ABCA8_000298 1/13006 1/8600 0/4406 - - - - - - -
?/? c.841del r.(?) p.(Ala281Profs*8) g.66925800del Copied from the Exome Variant Server ABCA8_000297 1/12518 1/8254 0/4264 - - - - - - -
?/? c.867A>T r.(?) p.(Arg289Ser) g.66925774T>A Copied from the Exome Variant Server ABCA8_000296 1/13006 1/8600 0/4406 - - - - - - -
?/? c.918T>C r.(=) p.(=) g.66925723A>G Copied from the Exome Variant Server ABCA8_000295 1/13006 0/8600 1/4406 - - - - - - -
?/? c.938T>C r.(?) p.(Leu313Ser) g.66925703A>G Copied from the Exome Variant Server ABCA8_000294 3/13006 0/8600 3/4406 - - - - - - -
?/? c.939+18A>G r.(=) p.(=) g.66925684T>C Copied from the Exome Variant Server ABCA8_000293 1/13006 1/8600 0/4406 - - - - - - -
?/? c.939+28A>G r.(=) p.(=) g.66925674T>C Copied from the Exome Variant Server ABCA8_000292 226/13006 152/8600 74/4406 - - - - - - -
?/? c.940-42T>C r.(=) p.(=) g.66925417A>G Copied from the Exome Variant Server ABCA8_000291 2/13000 0/8594 2/4406 - - - - - - -
?/? c.940-41G>A r.(=) p.(=) g.66925416C>T Copied from the Exome Variant Server ABCA8_000290 1/13006 0/8600 1/4406 - - - - - - -
?/? c.940-29T>G r.(=) p.(=) g.66925404A>C Copied from the Exome Variant Server ABCA8_000289 1/13006 1/8600 0/4406 - - - - - - -
?/? c.975G>T r.(?) p.(Lys325Asn) g.66925340C>A Copied from the Exome Variant Server ABCA8_000288 3/13006 0/8600 3/4406 - - - - - - -
?/? c.991G>A r.(?) p.(Gly331Ser) g.66925324C>T Copied from the Exome Variant Server ABCA8_000287 3/13006 2/8600 1/4406 - - - - - - -
?/? c.999C>T r.(=) p.(=) g.66925316G>A Copied from the Exome Variant Server ABCA8_000286 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1000G>A r.(?) p.(Val334Met) g.66925315C>T Copied from the Exome Variant Server ABCA8_000285 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1004T>C r.(?) p.(Phe335Ser) g.66925311A>G Copied from the Exome Variant Server ABCA8_000284 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1026G>A r.(=) p.(=) g.66925289C>T Copied from the Exome Variant Server ABCA8_000283 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1085G>C r.(?) p.(Ser362Thr) g.66925230C>G Copied from the Exome Variant Server ABCA8_000282 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1092T>C r.(=) p.(=) g.66925223A>G Copied from the Exome Variant Server ABCA8_000281 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1125+7T>C r.(=) p.(=) g.66925183A>G Copied from the Exome Variant Server ABCA8_000280 18/13006 0/8600 18/4406 - - - - - - -
?/? c.1125+9C>G r.(=) p.(=) g.66925181G>C Copied from the Exome Variant Server ABCA8_000279 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1125+13C>T r.(=) p.(=) g.66925177G>A Copied from the Exome Variant Server ABCA8_000278 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1126-45A>G r.(=) p.(=) g.66924249T>C Copied from the Exome Variant Server ABCA8_000277 3/12990 3/8592 0/4398 - - - - - - -
?/? c.1126-15C>A r.(=) p.(=) g.66924219G>T Copied from the Exome Variant Server ABCA8_000276 70/13004 67/8598 3/4406 - - - - - - -
?/? c.1175C>T r.(?) p.(Ser392Leu) g.66924155G>A Copied from the Exome Variant Server ABCA8_000275 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1181del r.(?) p.(Gly394Alafs*6) g.66924149del Copied from the Exome Variant Server ABCA8_000274 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1247C>T r.(?) p.(Ala416Val) g.66924083G>A Copied from the Exome Variant Server ABCA8_000273 636/13006 565/8600 71/4406 - - - - - - -
?/? c.1256T>C r.(?) p.(Phe419Ser) g.66924074A>G Copied from the Exome Variant Server ABCA8_000272 117/13004 0/8598 117/4406 - - - - - - -
?/? c.1273+14T>C r.(=) p.(=) g.66924043A>G Copied from the Exome Variant Server ABCA8_000271 2/12968 0/8588 2/4380 - - - - - - -
?/? c.1273+27A>G r.(=) p.(=) g.66924030T>C Copied from the Exome Variant Server ABCA8_000270 1/12874 1/8554 0/4320 - - - - - - -
?/? c.1273+46A>G r.(=) p.(=) g.66924011T>C Copied from the Exome Variant Server ABCA8_000269 5/12464 0/8366 5/4098 - - - - - - -
?/? c.1274-51C>T r.(=) p.(=) g.66921061G>A Copied from the Exome Variant Server ABCA8_000268 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1274-49C>T r.(=) p.(=) g.66921059G>A Copied from the Exome Variant Server ABCA8_000267 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1274-43C>T r.(=) p.(=) g.66921053G>A Copied from the Exome Variant Server ABCA8_000266 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1274-42G>A r.(=) p.(=) g.66921052C>T Copied from the Exome Variant Server ABCA8_000265 20/13006 0/8600 20/4406 - - - - - - -
?/? c.1274-20A>G r.(=) p.(=) g.66921030T>C Copied from the Exome Variant Server ABCA8_000264 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1288C>T r.(?) p.(Arg430*) g.66920996G>A Copied from the Exome Variant Server ABCA8_000263 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1289G>A r.(?) p.(Arg430Gln) g.66920995C>T Copied from the Exome Variant Server ABCA8_000262 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1291C>T r.(?) p.(Arg431Cys) g.66920993G>A Copied from the Exome Variant Server ABCA8_000261 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1292G>A r.(?) p.(Arg431His) g.66920992C>T Copied from the Exome Variant Server ABCA8_000260 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1307T>C r.(?) p.(Phe436Ser) g.66920977A>G Copied from the Exome Variant Server ABCA8_000259 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1377C>T r.(=) p.(=) g.66920907G>A Copied from the Exome Variant Server ABCA8_000258 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1378G>A r.(?) p.(Asp460Asn) g.66920906C>T Copied from the Exome Variant Server ABCA8_000257 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1381C>T r.(?) p.(Pro461Ser) g.66920903G>A Copied from the Exome Variant Server ABCA8_000256 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1391A>G r.(?) p.(His464Arg) g.66920893T>C Copied from the Exome Variant Server ABCA8_000255 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1409C>T r.(?) p.(Ala470Val) g.66920875G>A Copied from the Exome Variant Server ABCA8_000254 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1410G>A r.(=) p.(=) g.66920874C>T Copied from the Exome Variant Server ABCA8_000253 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1427G>A r.(?) p.(Gly476Glu) g.66920857C>T Copied from the Exome Variant Server ABCA8_000252 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1438A>T r.(?) p.(Ile480Phe) g.66920846T>A Copied from the Exome Variant Server ABCA8_000251 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1442+27G>A r.(=) p.(=) g.66920815C>T Copied from the Exome Variant Server ABCA8_000250 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1443-33T>G r.(=) p.(=) g.66918474A>C Copied from the Exome Variant Server ABCA8_000249 1/12834 1/8498 0/4336 - - - - - - -
?/? c.1488A>G r.(?) p.(Ile496Met) g.66918396T>C Copied from the Exome Variant Server ABCA8_000248 1/12938 0/8576 1/4362 - - - - - - -
?/? c.1495T>C r.(=) p.(=) g.66918389A>G Copied from the Exome Variant Server ABCA8_000247 1/12920 1/8564 0/4356 - - - - - - -
?/? c.1501+23_1501+24insCCTTG r.(=) p.(=) g.66918359_66918360insCAAGG Copied from the Exome Variant Server ABCA8_000245 171/5966 131/3990 40/1976 - - - - - - -
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