Unique variants in gene ABCA10

Information The variants shown are described using the NM_080282.3 transcript reference sequence.

306 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.-71G>A r.(=) p.(=) g.67221570C>T Copied from the Exome Variant Server ABCA10_000306 127/4566 2/3182 125/1384
1 c.-7A>G r.(=) p.(=) g.67221506T>C Copied from the Exome Variant Server ABCA10_000305 1/13006 1/8600 0/4406
1 c.28A>G r.(?) p.(Met10Val) g.67221472T>C Copied from the Exome Variant Server ABCA10_000304 1/13006 1/8600 0/4406
1 c.34+19A>G r.(=) p.(=) g.67221447T>C Copied from the Exome Variant Server ABCA10_000303 1/13006 0/8600 1/4406
1 c.34+20A>G r.(=) p.(=) g.67221446T>C Copied from the Exome Variant Server ABCA10_000302 2/13006 0/8600 2/4406
1 c.34+28G>T r.(=) p.(=) g.67221438C>A Copied from the Exome Variant Server ABCA10_000301 408/13006 4/8600 404/4406
1 c.35-41A>C r.(=) p.(=) g.67218879T>G Copied from the Exome Variant Server ABCA10_000300 1/12986 0/8588 1/4398
1 c.74A>G r.(?) p.(Asp25Gly) g.67218799T>C Copied from the Exome Variant Server ABCA10_000299 1/13002 1/8596 0/4406
1 c.110G>C r.(?) p.(Gly37Ala) g.67218763C>G Copied from the Exome Variant Server ABCA10_000298 1/12996 1/8590 0/4406
1 c.111A>G r.(=) p.(=) g.67218762T>C Copied from the Exome Variant Server ABCA10_000297 1/12994 1/8590 0/4404
1 c.127A>G r.(?) p.(Thr43Ala) g.67218746T>C Copied from the Exome Variant Server ABCA10_000296 5/12998 0/8594 5/4404
1 c.140G>A r.(?) p.(Arg47His) g.67218733C>T Copied from the Exome Variant Server ABCA10_000295 3/13002 2/8596 1/4406
1 c.163A>G r.(?) p.(Arg55Gly) g.67218710T>C Copied from the Exome Variant Server ABCA10_000294 1/13000 0/8594 1/4406
1 c.167T>C r.(?) p.(Ile56Thr) g.67218706A>G Copied from the Exome Variant Server ABCA10_000293 1/13002 1/8596 0/4406
1 c.199+2T>C r.spl? p.? g.67218672A>G Copied from the Exome Variant Server ABCA10_000292 4/13002 0/8598 4/4404
1 c.199+15_199+16insA r.(=) p.(=) g.67218658_67218659insT Copied from the Exome Variant Server ABCA10_000290 3/12496 0/8242 3/4254
1 c.199+19A>C r.(=) p.(=) g.67218655T>G Copied from the Exome Variant Server ABCA10_000291 3/12976 2/8588 1/4388
1 c.199+34del r.(=) p.(=) g.67218640del Copied from the Exome Variant Server ABCA10_000289 29/12426 21/8210 8/4216
1 c.199+35del r.(=) p.(=) g.67218639del Copied from the Exome Variant Server ABCA10_000287 43/12430 37/8212 6/4218
1 c.199+35G>T r.(=) p.(=) g.67218639C>A Copied from the Exome Variant Server ABCA10_000288 73/12920 63/8568 10/4352
1 c.199+36A>G r.(=) p.(=) g.67218638T>C Copied from the Exome Variant Server ABCA10_000286 1/12914 0/8562 1/4352
1 c.200-34A>G r.(=) p.(=) g.67218070T>C Copied from the Exome Variant Server ABCA10_000285 2/13004 1/8600 1/4404
1 c.200-29T>C r.(=) p.(=) g.67218065A>G Copied from the Exome Variant Server ABCA10_000284 1/13002 1/8598 0/4404
1 c.200A>G r.(?) p.(Glu67Gly) g.67218036T>C Copied from the Exome Variant Server ABCA10_000283 4/13006 4/8600 0/4406
1 c.218A>C r.(?) p.(His73Pro) g.67218018T>G Copied from the Exome Variant Server ABCA10_000282 5/13006 0/8600 5/4406
1 c.228T>G r.(?) p.(Ile76Met) g.67218008A>C Copied from the Exome Variant Server ABCA10_000281 1/13006 0/8600 1/4406
1 c.237C>G r.(?) p.(Tyr79*) g.67217999G>C Copied from the Exome Variant Server ABCA10_000280 5/13006 0/8600 5/4406
1 c.253C>G r.(?) p.(Leu85Val) g.67217983G>C Copied from the Exome Variant Server ABCA10_000279 171/13006 2/8600 169/4406
1 c.380C>G r.(?) p.(Ser127Cys) g.67215836G>C Copied from the Exome Variant Server ABCA10_000278 4/12994 0/8590 4/4404
1 c.411T>C r.(=) p.(=) g.67215805A>G Copied from the Exome Variant Server ABCA10_000277 1/12992 1/8586 0/4406
1 c.465T>C r.(=) p.(=) g.67215751A>G Copied from the Exome Variant Server ABCA10_000276 1/12998 0/8594 1/4404
1 c.470G>A r.(?) p.(Arg157Lys) g.67215746C>T Copied from the Exome Variant Server ABCA10_000275 6/13000 6/8596 0/4404
1 c.504G>A r.(=) p.(=) g.67215712C>T Copied from the Exome Variant Server ABCA10_000274 8740/12998 5658/8592 3082/4406
1 c.514C>T r.(?) p.(Arg172*) g.67215702G>A Copied from the Exome Variant Server ABCA10_000273 31/12998 1/8592 30/4406
1 c.530+24G>C r.(=) p.(=) g.67215662C>G Copied from the Exome Variant Server ABCA10_000272 1/12990 1/8586 0/4404
1 c.530+35A>G r.(=) p.(=) g.67215651T>C Copied from the Exome Variant Server ABCA10_000271 1/12984 1/8582 0/4402
1 c.531-32A>G r.(=) p.(=) g.67212531T>C Copied from the Exome Variant Server ABCA10_000270 2/13006 2/8600 0/4406
1 c.543A>G r.(=) p.(=) g.67212487T>C Copied from the Exome Variant Server ABCA10_000269 1/13006 1/8600 0/4406
1 c.574T>C r.(?) p.(Ser192Pro) g.67212456A>G Copied from the Exome Variant Server ABCA10_000268 1/13006 1/8600 0/4406
1 c.607C>T r.(?) p.(Pro203Ser) g.67212423G>A Copied from the Exome Variant Server ABCA10_000267 8517/13006 5656/8600 2861/4406
1 c.611T>C r.(?) p.(Ile204Thr) g.67212419A>G Copied from the Exome Variant Server ABCA10_000266 3/13006 3/8600 0/4406
1 c.621T>C r.(=) p.(=) g.67212409A>G Copied from the Exome Variant Server ABCA10_000265 4/13006 4/8600 0/4406
1 c.640T>C r.(?) p.(Phe214Leu) g.67212390A>G Copied from the Exome Variant Server ABCA10_000264 1/13006 1/8600 0/4406
1 c.655_663del r.(?) p.(Tyr220_Leu222del) g.67212367_67212375del Copied from the Exome Variant Server ABCA10_000263 26/12518 18/8254 8/4264
1 c.672+6T>C r.(=) p.(=) g.67212352A>G Copied from the Exome Variant Server ABCA10_000262 4/13006 0/8600 4/4406
1 c.673-28T>C r.(=) p.(=) g.67212169A>G Copied from the Exome Variant Server ABCA10_000261 1/13006 0/8600 1/4406
1 c.673-23A>G r.(=) p.(=) g.67212164T>C Copied from the Exome Variant Server ABCA10_000260 7/13006 0/8600 7/4406
1 c.673-4T>A r.spl? p.? g.67212145A>T Copied from the Exome Variant Server ABCA10_000259 6/13006 0/8600 6/4406
1 c.691A>G r.(?) p.(Met231Val) g.67212123T>C Copied from the Exome Variant Server ABCA10_000258 4/13006 0/8600 4/4406
1 c.716T>C r.(?) p.(Met239Thr) g.67212098A>G Copied from the Exome Variant Server ABCA10_000257 2/13006 0/8600 2/4406
1 c.783T>C r.(=) p.(=) g.67212031A>G Copied from the Exome Variant Server ABCA10_000256 7483/13006 5649/8600 1834/4406
1 c.785G>A r.(?) p.(Arg262Lys) g.67212029C>T Copied from the Exome Variant Server ABCA10_000255 1/13006 1/8600 0/4406
1 c.807A>G r.(=) p.(=) g.67212007T>C Copied from the Exome Variant Server ABCA10_000254 1/13006 0/8600 1/4406
1 c.811G>C r.(?) p.(Val271Leu) g.67212003C>G Copied from the Exome Variant Server ABCA10_000253 2/13006 2/8600 0/4406
1 c.829C>A r.(?) p.(Pro277Thr) g.67211985G>T Copied from the Exome Variant Server ABCA10_000252 81/13006 1/8600 80/4406
1 c.858+9A>T r.(=) p.(=) g.67211947T>A Copied from the Exome Variant Server ABCA10_000251 1/12996 0/8600 1/4396
1 c.859A>G r.(?) p.(Ile287Val) g.67210992T>C Copied from the Exome Variant Server ABCA10_000250 3860/12916 3496/8546 364/4370
1 c.865C>T r.(?) p.(His289Tyr) g.67210986G>A Copied from the Exome Variant Server ABCA10_000249 1/12940 1/8552 0/4388
1 c.874A>G r.(?) p.(Asn292Asp) g.67210977T>C Copied from the Exome Variant Server ABCA10_000248 1/12962 1/8564 0/4398
1 c.981A>C r.(=) p.(=) g.67210870T>G Copied from the Exome Variant Server ABCA10_000247 1/12974 0/8570 1/4404
1 c.995G>A r.(?) p.(Arg332Gln) g.67210856C>T Copied from the Exome Variant Server ABCA10_000246 6/12980 6/8576 0/4404
1 c.1006+1G>C r.spl? p.? g.67210844C>G Copied from the Exome Variant Server ABCA10_000245 1/12978 0/8572 1/4406
1 c.1006+39T>C r.(=) p.(=) g.67210806A>G Copied from the Exome Variant Server ABCA10_000244 1/12946 0/8556 1/4390
1 c.1007-45T>C r.(=) p.(=) g.67197854A>G Copied from the Exome Variant Server ABCA10_000243 139/12838 2/8538 137/4300
1 c.1007-41G>C r.(=) p.(=) g.67197850C>G Copied from the Exome Variant Server ABCA10_000242 1/12874 0/8556 1/4318
1 c.1007-38T>C r.(=) p.(=) g.67197847A>G Copied from the Exome Variant Server ABCA10_000240 4/12880 0/8558 4/4322
1 c.1007-14_1007-11del r.(=) p.(=) g.67197820_67197823del Copied from the Exome Variant Server ABCA10_000241 1/12454 1/8228 0/4226
1 c.1043T>G r.(?) p.(Leu348Arg) g.67197773A>C Copied from the Exome Variant Server ABCA10_000239 1/13000 1/8596 0/4404
1 c.1070A>G r.(?) p.(Gln357Arg) g.67197746T>C Copied from the Exome Variant Server ABCA10_000238 1/13004 1/8598 0/4406
1 c.1084G>A r.(?) p.(Glu362Lys) g.67197732C>T Copied from the Exome Variant Server ABCA10_000237 1/13004 0/8598 1/4406
1 c.1115A>C r.(?) p.(His372Pro) g.67197701T>G Copied from the Exome Variant Server ABCA10_000236 233/13004 3/8598 230/4406
1 c.1148C>T r.(?) p.(Pro383Leu) g.67197668G>A Copied from the Exome Variant Server ABCA10_000235 1/13002 1/8596 0/4406
1 c.1175+6T>A r.(=) p.(=) g.67197635A>T Copied from the Exome Variant Server ABCA10_000234 1/13000 1/8594 0/4406
1 c.1175+10A>G r.(=) p.(=) g.67197631T>C Copied from the Exome Variant Server ABCA10_000233 1/12998 0/8594 1/4404
1 c.1175+23A>G r.(=) p.(=) g.67197618T>C Copied from the Exome Variant Server ABCA10_000232 64/12998 1/8594 63/4404
1 c.1175+46_1175+47insCTT r.(=) p.(=) g.67197594_67197595insAAG Copied from the Exome Variant Server ABCA10_000231 1/12508 1/8248 0/4260
1 c.1234+43C>T r.(=) p.(=) g.67193162G>A Copied from the Exome Variant Server ABCA10_000230 1283/12694 16/8416 1267/4278
1 c.1236C>T r.(=) p.(=) g.67190635G>A Copied from the Exome Variant Server ABCA10_000229 1/13004 1/8598 0/4406
1 c.1237A>G r.(?) p.(Ile413Val) g.67190634T>C Copied from the Exome Variant Server ABCA10_000228 1/13004 1/8598 0/4406
1 c.1252T>C r.(?) p.(Tyr418His) g.67190619A>G Copied from the Exome Variant Server ABCA10_000227 22/13004 0/8598 22/4406
1 c.1303A>G r.(?) p.(Thr435Ala) g.67190568T>C Copied from the Exome Variant Server ABCA10_000226 38/13002 0/8596 38/4406
1 c.1312A>T r.(?) p.(Asn438Tyr) g.67190559T>A Copied from the Exome Variant Server ABCA10_000225 2/13002 0/8596 2/4406
1 c.1328T>G r.(?) p.(Leu443Trp) g.67190543A>C Copied from the Exome Variant Server ABCA10_000224 1/13002 1/8596 0/4406
1 c.1331_1334del r.(?) p.(Ser444Phefs*17) g.67190537_67190540del Copied from the Exome Variant Server ABCA10_000223 915/12512 548/8248 367/4264
1 c.1345+9A>G r.(=) p.(=) g.67190517T>C Copied from the Exome Variant Server ABCA10_000222 20/13002 17/8596 3/4406
1 c.1345+44T>C r.(=) p.(=) g.67190482A>G Copied from the Exome Variant Server ABCA10_000221 1/13000 0/8596 1/4404
1 c.1346-32G>T r.(=) p.(=) g.67190162C>A Copied from the Exome Variant Server ABCA10_000220 1/12916 1/8570 0/4346
1 c.1357_1358del r.(?) p.(Ile453Leufs*2) g.67190118_67190119del Copied from the Exome Variant Server ABCA10_000219 1406/12500 11/8244 1395/4256
1 c.1371A>G r.(=) p.(=) g.67190105T>C Copied from the Exome Variant Server ABCA10_000218 1/12996 0/8594 1/4402
1 c.1376_1377del r.(?) p.(Ser459*) g.67190099_67190100del Copied from the Exome Variant Server ABCA10_000217 2/12502 0/8244 2/4258
1 c.1453A>G r.(?) p.(Thr485Ala) g.67190023T>C Copied from the Exome Variant Server ABCA10_000216 1/13006 1/8600 0/4406
1 c.1476A>G r.(=) p.(=) g.67190000T>C Copied from the Exome Variant Server ABCA10_000215 1/13006 1/8600 0/4406
1 c.1480G>A r.(?) p.(Ala494Thr) g.67189996C>T Copied from the Exome Variant Server ABCA10_000214 1/13006 1/8600 0/4406
1 c.1494G>A r.(=) p.(=) g.67189982C>T Copied from the Exome Variant Server ABCA10_000213 1/13006 0/8600 1/4406
1 c.1499A>G r.(?) p.(Gln500Arg) g.67189977T>C Copied from the Exome Variant Server ABCA10_000212 1/13006 1/8600 0/4406
1 c.1503A>G r.(=) p.(=) g.67189973T>C Copied from the Exome Variant Server ABCA10_000211 10/13006 2/8600 8/4406
1 c.1516C>G r.(?) p.(Gln506Glu) g.67189960G>C Copied from the Exome Variant Server ABCA10_000210 1/13006 1/8600 0/4406
1 c.1521+4C>T r.spl? p.? g.67189951G>A Copied from the Exome Variant Server ABCA10_000209 5/13006 0/8600 5/4406
1 c.1521+21T>C r.(=) p.(=) g.67189934A>G Copied from the Exome Variant Server ABCA10_000208 35/13006 0/8600 35/4406
1 c.1522-37A>C r.(=) p.(=) g.67189790T>G Copied from the Exome Variant Server ABCA10_000207 2/12896 0/8554 2/4342
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