Full data view for gene ABCA6

Information The variants shown are described using the NM_080284.2 transcript reference sequence.

309 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.-5G>A r.(=) p.(=) g.67136849C>T Copied from the Exome Variant Server ABCA6_000308 1/13004 0/8598 1/4406 - - - - - - -
?/? c.15G>A r.(=) p.(=) g.67136830C>T Copied from the Exome Variant Server ABCA6_000307 1/13004 1/8598 0/4406 - - - - - - -
?/? c.27T>G r.(?) p.(Tyr9*) g.67136818A>C Copied from the Exome Variant Server ABCA6_000306 1/13000 1/8594 0/4406 - - - - - - -
?/? c.64A>C r.(?) p.(Lys22Gln) g.67136781T>G Copied from the Exome Variant Server ABCA6_000305 1/13002 0/8598 1/4404 - - - - - - -
?/? c.88_89del r.(?) p.(Ser30Leufs*39) g.67136756_67136757del Copied from the Exome Variant Server ABCA6_000304 41/12514 19/8252 22/4262 - - - - - - -
?/? c.90C>G r.(?) p.(Ser30Arg) g.67136755G>C Copied from the Exome Variant Server ABCA6_000303 1/13002 1/8598 0/4404 - - - - - - -
?/? c.96+47G>C r.(=) p.(=) g.67136702C>G Copied from the Exome Variant Server ABCA6_000302 1/12996 1/8594 0/4402 - - - - - - -
?/? c.121G>A r.(?) p.(Gly41Arg) g.67133617C>T Copied from the Exome Variant Server ABCA6_000301 1/13004 1/8600 0/4404 - - - - - - -
?/? c.138G>A r.(=) p.(=) g.67133600C>T Copied from the Exome Variant Server ABCA6_000300 1/13004 1/8600 0/4404 - - - - - - -
?/? c.150C>T r.(=) p.(=) g.67133588G>A Copied from the Exome Variant Server ABCA6_000299 1/13006 1/8600 0/4406 - - - - - - -
?/? c.300A>G r.(=) p.(=) g.67133438T>C Copied from the Exome Variant Server ABCA6_000298 1/13006 1/8600 0/4406 - - - - - - -
?/? c.301+7G>A r.(=) p.(=) g.67133430C>T Copied from the Exome Variant Server ABCA6_000297 1/13006 0/8600 1/4406 - - - - - - -
?/? c.301+17C>T r.(=) p.(=) g.67133420G>A Copied from the Exome Variant Server ABCA6_000296 230/13006 1/8600 229/4406 - - - - - - -
?/? c.301+44A>G r.(=) p.(=) g.67133393T>C Copied from the Exome Variant Server ABCA6_000295 1/13004 1/8598 0/4406 - - - - - - -
?/? c.321_322del r.(?) p.(Pro108Lysfs*2) g.67132371_67132372del Copied from the Exome Variant Server ABCA6_000294 2/12498 1/8238 1/4260 - - - - - - -
?/? c.327T>C r.(=) p.(=) g.67132366A>G Copied from the Exome Variant Server ABCA6_000293 1/12982 0/8584 1/4398 - - - - - - -
?/? c.339G>A r.(?) p.(Met113Ile) g.67132354C>T Copied from the Exome Variant Server ABCA6_000292 1/12982 0/8584 1/4398 - - - - - - -
?/? c.342C>T r.(=) p.(=) g.67132351G>A Copied from the Exome Variant Server ABCA6_000291 103/12984 2/8586 101/4398 - - - - - - -
?/? c.394A>C r.(?) p.(Thr132Pro) g.67132299T>G Copied from the Exome Variant Server ABCA6_000290 2/12994 2/8592 0/4402 - - - - - - -
?/? c.405T>C r.(=) p.(=) g.67132288A>G Copied from the Exome Variant Server ABCA6_000289 1/12994 1/8592 0/4402 - - - - - - -
?/? c.436C>T r.(?) p.(Pro146Ser) g.67132257G>A Copied from the Exome Variant Server ABCA6_000288 4/12996 0/8594 4/4402 - - - - - - -
?/? c.460+3G>A r.spl? p.? g.67132230C>T Copied from the Exome Variant Server ABCA6_000287 3/12996 0/8590 3/4406 - - - - - - -
?/? c.460+12T>C r.(=) p.(=) g.67132221A>G Copied from the Exome Variant Server ABCA6_000286 2/12994 0/8590 2/4404 - - - - - - -
?/? c.461-48A>G r.(=) p.(=) g.67130931T>C Copied from the Exome Variant Server ABCA6_000285 31/13006 0/8600 31/4406 - - - - - - -
?/? c.461-39G>A r.(=) p.(=) g.67130922C>T Copied from the Exome Variant Server ABCA6_000284 1/13006 0/8600 1/4406 - - - - - - -
?/? c.461-35C>T r.(=) p.(=) g.67130918G>A Copied from the Exome Variant Server ABCA6_000283 13/13006 9/8600 4/4406 - - - - - - -
?/? c.461-3C>T r.spl? p.? g.67130886G>A Copied from the Exome Variant Server ABCA6_000282 1/13006 1/8600 0/4406 - - - - - - -
?/? c.536A>G r.(?) p.(Gln179Arg) g.67130808T>C Copied from the Exome Variant Server ABCA6_000281 1/13006 1/8600 0/4406 - - - - - - -
?/? c.560T>C r.(?) p.(Ile187Thr) g.67130784A>G Copied from the Exome Variant Server ABCA6_000280 1/13006 1/8600 0/4406 - - - - - - -
?/? c.564+47C>T r.(=) p.(=) g.67130733G>A Copied from the Exome Variant Server ABCA6_000279 1/13006 1/8600 0/4406 - - - - - - -
?/? c.585G>A r.(=) p.(=) g.67129988C>T Copied from the Exome Variant Server ABCA6_000278 2/12992 0/8588 2/4404 - - - - - - -
?/? c.586A>G r.(?) p.(Met196Val) g.67129987T>C Copied from the Exome Variant Server ABCA6_000277 1/12992 1/8588 0/4404 - - - - - - -
?/? c.600G>A r.(?) p.(Met200Ile) g.67129973C>T Copied from the Exome Variant Server ABCA6_000276 2/12996 0/8590 2/4406 - - - - - - -
?/? c.640A>G r.(?) p.(Thr214Ala) g.67129933T>C Copied from the Exome Variant Server ABCA6_000275 1/12994 0/8588 1/4406 - - - - - - -
?/? c.664A>G r.(?) p.(Met222Val) g.67129909T>C Copied from the Exome Variant Server ABCA6_000274 2/12998 2/8592 0/4406 - - - - - - -
?/? c.685C>T r.(?) p.(Leu229Phe) g.67129888G>A Copied from the Exome Variant Server ABCA6_000273 5/12998 0/8594 5/4404 - - - - - - -
?/? c.722A>G r.(?) p.(Asn241Ser) g.67129851T>C Copied from the Exome Variant Server ABCA6_000272 33/13004 0/8600 33/4404 - - - - - - -
?/? c.791+21G>A r.(=) p.(=) g.67129761C>T Copied from the Exome Variant Server ABCA6_000271 1/13004 1/8598 0/4406 - - - - - - -
?/? c.792-8T>C r.(=) p.(=) g.67125900A>G Copied from the Exome Variant Server ABCA6_000270 65/12968 63/8572 2/4396 - - - - - - -
?/? c.792-5_792-2del r.spl? p.? g.67125894_67125897del Copied from the Exome Variant Server ABCA6_000269 30/12484 1/8228 29/4256 - - - - - - -
?/? c.844G>A r.(?) p.(Val282Ile) g.67125840C>T Copied from the Exome Variant Server ABCA6_000268 7786/12998 5993/8592 1793/4406 - - - - - - -
?/? c.848C>T r.(?) p.(Thr283Ile) g.67125836G>A Copied from the Exome Variant Server ABCA6_000267 1/13000 1/8594 0/4406 - - - - - - -
?/? c.881T>C r.(?) p.(Met294Thr) g.67125803A>G Copied from the Exome Variant Server ABCA6_000266 1/13000 0/8594 1/4406 - - - - - - -
?/? c.886G>T r.(?) p.(Gly296Cys) g.67125798C>A Copied from the Exome Variant Server ABCA6_000265 1/13000 0/8594 1/4406 - - - - - - -
?/? c.887G>T r.(?) p.(Gly296Val) g.67125797C>A Copied from the Exome Variant Server ABCA6_000264 5/13000 5/8594 0/4406 - - - - - - -
?/? c.894G>C r.(?) p.(Met298Ile) g.67125790C>G Copied from the Exome Variant Server ABCA6_000263 1/12998 0/8592 1/4406 - - - - - - -
?/? c.934-48T>A r.(=) p.(=) g.67124993A>T Copied from the Exome Variant Server ABCA6_000262 1/13004 1/8600 0/4404 - - - - - - -
?/? c.986A>G r.(?) p.(Asn329Ser) g.67124893T>C Copied from the Exome Variant Server ABCA6_000261 1/13006 1/8600 0/4406 - - - - - - -
?/? c.995T>C r.(?) p.(Val332Ala) g.67124884A>G Copied from the Exome Variant Server ABCA6_000260 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1007C>G r.(?) p.(Thr336Ser) g.67124872G>C Copied from the Exome Variant Server ABCA6_000259 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1101T>C r.(=) p.(=) g.67124778A>G Copied from the Exome Variant Server ABCA6_000258 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1119+7G>T r.(=) p.(=) g.67124753C>A Copied from the Exome Variant Server ABCA6_000257 118/13006 102/8600 16/4406 - - - - - - -
?/? c.1119+11A>G r.(=) p.(=) g.67124749T>C Copied from the Exome Variant Server ABCA6_000256 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1119+16A>G r.(=) p.(=) g.67124744T>C Copied from the Exome Variant Server ABCA6_000255 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1186A>G r.(?) p.(Met396Val) g.67121110T>C Copied from the Exome Variant Server ABCA6_000254 2/12996 2/8590 0/4406 - - - - - - -
?/? c.1214del r.(?) p.(Leu405Trpfs*31) g.67121082del Copied from the Exome Variant Server ABCA6_000253 63/12500 48/8238 15/4262 - - - - - - -
?/? c.1236A>G r.(=) p.(=) g.67121060T>C Copied from the Exome Variant Server ABCA6_000252 6/12994 6/8588 0/4406 - - - - - - -
?/? c.1265C>T r.(?) p.(Pro422Leu) g.67121031G>A Copied from the Exome Variant Server ABCA6_000251 1/12992 0/8588 1/4404 - - - - - - -
?/? c.1267+3A>G r.spl? p.? g.67121026T>C Copied from the Exome Variant Server ABCA6_000250 4/12992 0/8588 4/4404 - - - - - - -
?/? c.1267+7A>G r.(=) p.(=) g.67121022T>C Copied from the Exome Variant Server ABCA6_000249 1/12994 1/8590 0/4404 - - - - - - -
?/? c.1267+32A>G r.(=) p.(=) g.67120997T>C Copied from the Exome Variant Server ABCA6_000248 189/12964 180/8574 9/4390 - - - - - - -
?/? c.1267+33C>T r.(=) p.(=) g.67120996G>A Copied from the Exome Variant Server ABCA6_000247 3/12962 3/8574 0/4388 - - - - - - -
?/? c.1268-50G>A r.(=) p.(=) g.67119598C>T Copied from the Exome Variant Server ABCA6_000246 3/13002 2/8600 1/4402 - - - - - - -
?/? c.1268-45C>G r.(=) p.(=) g.67119593G>C Copied from the Exome Variant Server ABCA6_000245 7753/13002 6000/8600 1753/4402 - - - - - - -
?/? c.1268-15C>G r.(=) p.(=) g.67119563G>C Copied from the Exome Variant Server ABCA6_000244 70/13002 2/8600 68/4402 - - - - - - -
?/? c.1268A>T r.(?) p.(Tyr423Phe) g.67119548T>A Copied from the Exome Variant Server ABCA6_000243 4/13004 0/8600 4/4404 - - - - - - -
?/? c.1311A>C r.(=) p.(=) g.67119505T>G Copied from the Exome Variant Server ABCA6_000242 30/13006 23/8600 7/4406 - - - - - - -
?/? c.1323C>T r.(=) p.(=) g.67119493G>A Copied from the Exome Variant Server ABCA6_000241 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1338T>A r.(=) p.(=) g.67119478A>T Copied from the Exome Variant Server ABCA6_000240 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1361A>G r.(?) p.(Glu454Gly) g.67119455T>C Copied from the Exome Variant Server ABCA6_000239 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1365C>G r.(?) p.(Ile455Met) g.67119451G>C Copied from the Exome Variant Server ABCA6_000238 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1368T>A r.(?) p.(Asp456Glu) g.67119448A>T Copied from the Exome Variant Server ABCA6_000237 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1401A>G r.(=) p.(=) g.67119415T>C Copied from the Exome Variant Server ABCA6_000236 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1410T>C r.(=) p.(=) g.67119406A>G Copied from the Exome Variant Server ABCA6_000235 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1436+26A>G r.(=) p.(=) g.67119354T>C Copied from the Exome Variant Server ABCA6_000234 1/13002 1/8600 0/4402 - - - - - - -
?/? c.1469A>G r.(?) p.(Lys490Arg) g.67114065T>C Copied from the Exome Variant Server ABCA6_000233 8/13006 0/8600 8/4406 - - - - - - -
?/? c.1496-16T>C r.(=) p.(=) g.67111643A>G Copied from the Exome Variant Server ABCA6_000232 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1496-13G>A r.(=) p.(=) g.67111640C>T Copied from the Exome Variant Server ABCA6_000231 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1520G>C r.(?) p.(Gly507Ala) g.67111603C>G Copied from the Exome Variant Server ABCA6_000230 86/13006 0/8600 86/4406 - - - - - - -
?/? c.1529C>T r.(?) p.(Thr510Met) g.67111594G>A Copied from the Exome Variant Server ABCA6_000229 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1530G>A r.(=) p.(=) g.67111593C>T Copied from the Exome Variant Server ABCA6_000228 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1544A>G r.(?) p.(His515Arg) g.67111579T>C Copied from the Exome Variant Server ABCA6_000227 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1548T>A r.(?) p.(Ser516Arg) g.67111575A>T Copied from the Exome Variant Server ABCA6_000226 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1606+4A>T r.spl? p.? g.67111513T>A Copied from the Exome Variant Server ABCA6_000225 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1606+42T>C r.(=) p.(=) g.67111475A>G Copied from the Exome Variant Server ABCA6_000224 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1606+44G>C r.(=) p.(=) g.67111473C>G Copied from the Exome Variant Server ABCA6_000223 8/13006 0/8600 8/4406 - - - - - - -
?/? c.1606+51G>A r.(=) p.(=) g.67111466C>T Copied from the Exome Variant Server ABCA6_000222 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1607-43A>G r.(=) p.(=) g.67111121T>C Copied from the Exome Variant Server ABCA6_000221 7/12928 6/8558 1/4370 - - - - - - -
?/? c.1607-42A>G r.(=) p.(=) g.67111120T>C Copied from the Exome Variant Server ABCA6_000220 1/12936 1/8564 0/4372 - - - - - - -
?/? c.1607-8_1607-4del r.spl? p.? g.67111082_67111086del Copied from the Exome Variant Server ABCA6_000219 3/12510 3/8248 0/4262 - - - - - - -
?/? c.1620C>T r.(=) p.(=) g.67111065G>A Copied from the Exome Variant Server ABCA6_000218 63/13006 59/8600 4/4406 - - - - - - -
?/? c.1621T>C r.(?) p.(Tyr541His) g.67111064A>G Copied from the Exome Variant Server ABCA6_000217 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1644G>A r.(?) p.(Met548Ile) g.67111041C>T Copied from the Exome Variant Server ABCA6_000216 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1677C>T r.(=) p.(=) g.67111008G>A Copied from the Exome Variant Server ABCA6_000215 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1678G>A r.(?) p.(Val560Ile) g.67111007C>T Copied from the Exome Variant Server ABCA6_000214 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1694A>G r.(?) p.(Asn565Ser) g.67110991T>C Copied from the Exome Variant Server ABCA6_000213 6/13006 3/8600 3/4406 - - - - - - -
?/? c.1712_1715del r.(?) p.(Leu571Profs*2) g.67110970_67110973del Copied from the Exome Variant Server ABCA6_000212 48/12518 33/8254 15/4264 - - - - - - -
?/? c.1744A>G r.(?) p.(Lys582Glu) g.67110941T>C Copied from the Exome Variant Server ABCA6_000211 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1783-16G>A r.(=) p.(=) g.67109894C>T Copied from the Exome Variant Server ABCA6_000210 6970/13004 5546/8598 1424/4406 - - - - - - -
?/? c.1810A>G r.(?) p.(Met604Val) g.67109851T>C Copied from the Exome Variant Server ABCA6_000209 1/13006 1/8600 0/4406 - - - - - - -
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