Full data view for gene ABCA4

Information The variants shown are described using the NM_000350.2 transcript reference sequence.

600 entries on 6 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.-41G>A r.(=) p.(=) g.94586642C>T Copied from the Exome Variant Server ABCA4_000576 3/13006 0/8600 3/4406 - - - - - - -
?/? c.-34C>T r.(=) p.(=) g.94586635G>A Copied from the Exome Variant Server ABCA4_000575 6/13006 0/8600 6/4406 - - - - - - -
?/? c.-27C>T r.(=) p.(=) g.94586628G>A Copied from the Exome Variant Server ABCA4_000574 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-11T>A r.(=) p.(=) g.94586612A>T Copied from the Exome Variant Server ABCA4_000573 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-6A>C r.(=) p.(=) g.94586607T>G Copied from the Exome Variant Server ABCA4_000572 1/13006 1/8600 0/4406 - - - - - - -
?/? c.10G>A r.(?) p.(Val4Met) g.94586592C>T Copied from the Exome Variant Server ABCA4_000571 1/13006 0/8600 1/4406 - - - - - - -
?/? c.22C>A r.(?) p.(Gln8Lys) g.94586580G>T Copied from the Exome Variant Server ABCA4_000570 1/13006 1/8600 0/4406 - - - - - - -
?/? c.38A>G r.(?) p.(Lys13Arg) g.94586564T>C Copied from the Exome Variant Server ABCA4_000569 1/13006 1/8600 0/4406 - - - - - - -
?/? c.48C>A r.(=) p.(=) g.94586554G>T Copied from the Exome Variant Server ABCA4_000568 1/13006 1/8600 0/4406 - - - - - - -
?/? c.52C>T r.(?) p.(Arg18Trp) g.94586550G>A Copied from the Exome Variant Server ABCA4_000566 2/13006 2/8600 0/4406 - - - - - - -
?/? c.70C>T r.(?) p.(Arg24Cys) g.94578619G>A Copied from the Exome Variant Server ABCA4_000564 1/13006 1/8600 0/4406 - - - - - - -
?/? c.81G>A r.(=) p.(=) g.94578608C>T Copied from the Exome Variant Server ABCA4_000562 1/13006 1/8600 0/4406 - - - - - - -
?/? c.85C>T r.(?) p.(Leu29Phe) g.94578604G>A Copied from the Exome Variant Server ABCA4_000560 1/13006 1/8600 0/4406 - - - - - - -
?/? c.134C>G r.(?) p.(Ala45Gly) g.94578555G>C Copied from the Exome Variant Server ABCA4_000558 1/13006 1/8600 0/4406 - - - - - - -
?/? c.140C>T r.(?) p.(Pro47Leu) g.94578549G>A Copied from the Exome Variant Server ABCA4_000556 4/13006 0/8600 4/4406 - - - - - - -
?/? c.141A>G N/A N/A g.94578548T>C Copied from the Exome Variant Server ABCA4_000583 12846/13006 8599/8600 4247/4406 - - - - - - -
?/? c.160+41T>C r.(=) p.(=) g.94578488A>G Copied from the Exome Variant Server ABCA4_000553 15/13006 0/8600 15/4406 - - - - - - -
?/? c.161-43C>G r.(=) p.(=) g.94577178G>C Copied from the Exome Variant Server ABCA4_000551 1/13006 1/8600 0/4406 - - - - - - -
?/? c.161-28C>T r.(=) p.(=) g.94577163G>A Copied from the Exome Variant Server ABCA4_000549 1/13006 1/8600 0/4406 - - - - - - -
?/? c.161-19C>G r.(=) p.(=) g.94577154G>C Copied from the Exome Variant Server ABCA4_000547 1/13006 0/8600 1/4406 - - - - - - -
?/? c.161G>A r.(?) p.(Cys54Tyr) g.94577135C>T Copied from the Exome Variant Server ABCA4_000545 1/13006 1/8600 0/4406 - - - - - - -
?/? c.177G>A r.(=) p.(=) g.94577119C>T Copied from the Exome Variant Server ABCA4_000567 1/13006 0/8600 1/4406 - - - - - - -
?/? c.214G>A r.(?) p.(Gly72Arg) g.94577082C>T Copied from the Exome Variant Server ABCA4_000565 1/13006 1/8600 0/4406 - - - - - - -
?/? c.232A>C r.(?) p.(Asn78His) g.94577064T>G Copied from the Exome Variant Server ABCA4_000563 1/13006 0/8600 1/4406 - - - - - - -
?/? c.237T>C r.(=) p.(=) g.94577059A>G Copied from the Exome Variant Server ABCA4_000561 46/13006 0/8600 46/4406 - - - - - - -
?/? c.250_251insCAAA r.(?) p.(Ser84Thrfs*16) g.94577045_94577046insTTTG Copied from the Exome Variant Server ABCA4_000559 1/12520 1/8254 0/4266 - - - - - - -
?/? c.286A>G r.(?) p.(Asn96Asp) g.94577010T>C Copied from the Exome Variant Server ABCA4_000557 1/13006 1/8600 0/4406 - - - - - - -
?/? c.294C>G r.(?) p.(Asn98Lys) g.94577002G>C Copied from the Exome Variant Server ABCA4_000555 5/13006 0/8600 5/4406 - - - - - - -
?/? c.302+20C>T r.(=) p.(=) g.94576974G>A Copied from the Exome Variant Server ABCA4_000554 60/13006 0/8600 60/4406 - - - - - - -
?/? c.302+21C>G r.(=) p.(=) g.94576973G>C Copied from the Exome Variant Server ABCA4_000552 5/13006 0/8600 5/4406 - - - - - - -
?/? c.302+26A>G r.(=) p.(=) g.94576968T>C Copied from the Exome Variant Server ABCA4_000550 6153/13006 4145/8600 2008/4406 - - - - - - -
?/? c.302+37T>A r.(=) p.(=) g.94576957A>T Copied from the Exome Variant Server ABCA4_000548 1/13006 0/8600 1/4406 - - - - - - -
?/? c.302+38T>A r.(=) p.(=) g.94576956A>T Copied from the Exome Variant Server ABCA4_000546 1/13006 0/8600 1/4406 - - - - - - -
?/? c.304T>C r.(=) p.(=) g.94574271A>G Copied from the Exome Variant Server ABCA4_000544 1/13006 0/8600 1/4406 - - - - - - -
?/? c.331_332del r.(?) p.(Glu111Thrfs*49) g.94574243_94574244del Copied from the Exome Variant Server ABCA4_000543 1/12520 1/8254 0/4266 - - - - - - -
?/? c.419G>A r.(?) p.(Arg140Gln) g.94574156C>T Copied from the Exome Variant Server ABCA4_000542 1/13006 1/8600 0/4406 - - - - - - -
?/? c.429G>A r.(=) p.(=) g.94574146C>T Copied from the Exome Variant Server ABCA4_000541 2/13006 0/8600 2/4406 - - - - - - -
?/? c.443-3T>C r.spl? p.? g.94568701A>G Copied from the Exome Variant Server ABCA4_000540 1/13006 0/8600 1/4406 - - - - - - -
?/? c.455G>A r.(?) p.(Arg152Gln) g.94568686C>T Copied from the Exome Variant Server ABCA4_000539 39/13006 34/8600 5/4406 - - - - - - -
?/? c.459A>G r.(?) p.(Ile153Met) g.94568682T>C Copied from the Exome Variant Server ABCA4_000538 1/13006 1/8600 0/4406 - - - - - - -
?/? c.466A>G r.(?) p.(Ile156Val) g.94568675T>C Copied from the Exome Variant Server ABCA4_000537 14/13006 13/8600 1/4406 - - - - - - -
?/? c.468C>T r.(=) p.(=) g.94568673G>A Copied from the Exome Variant Server ABCA4_000536 20/13006 1/8600 19/4406 - - - - - - -
?/? c.514G>A r.(?) p.(Gly172Ser) g.94568627C>T Copied from the Exome Variant Server ABCA4_000535 9/13006 9/8600 0/4406 - - - - - - -
?/? c.560G>A r.(?) p.(Arg187His) g.94568581C>T Copied from the Exome Variant Server ABCA4_000534 2/13006 0/8600 2/4406 - - - - - - -
?/? c.570+7G>T r.(=) p.(=) g.94568564C>A Copied from the Exome Variant Server ABCA4_000533 3/13006 0/8600 3/4406 - - - - - - -
?/? c.570+20C>T r.(=) p.(=) g.94568551G>A Copied from the Exome Variant Server ABCA4_000532 80/13006 0/8600 80/4406 - - - - - - -
?/? c.571T>A r.(?) p.(Phe191Ile) g.94564547A>T Copied from the Exome Variant Server ABCA4_000531 1/13006 0/8600 1/4406 - - - - - - -
?/? c.573C>T r.(=) p.(=) g.94564545G>A Copied from the Exome Variant Server ABCA4_000530 2/13006 0/8600 2/4406 - - - - - - -
?/? c.574G>A r.(?) p.(Ala192Thr) g.94564544C>T Copied from the Exome Variant Server ABCA4_000529 19/13006 1/8600 18/4406 - - - - - - -
?/? c.578A>T r.(?) p.(His193Leu) g.94564540T>A Copied from the Exome Variant Server ABCA4_000528 1/13006 0/8600 1/4406 - - - - - - -
?/? c.589G>C r.(?) p.(Asp197His) g.94564529C>G Copied from the Exome Variant Server ABCA4_000527 3/13006 3/8600 0/4406 - - - - - - -
?/? c.596C>T r.(?) p.(Ala199Val) g.94564522G>A Copied from the Exome Variant Server ABCA4_000526 9/13006 1/8600 8/4406 - - - - - - -
?/? c.609C>T r.(=) p.(=) g.94564509G>A Copied from the Exome Variant Server ABCA4_000525 1/13006 1/8600 0/4406 - - - - - - -
?/? c.618C>T r.(=) p.(=) g.94564500G>A Copied from the Exome Variant Server ABCA4_000524 42/13006 0/8600 42/4406 - - - - - - -
?/? c.619G>A r.(?) p.(Glu207Lys) g.94564499C>T Copied from the Exome Variant Server ABCA4_000523 1/13006 1/8600 0/4406 - - - - - - -
?/? c.634C>T r.(?) p.(Arg212Cys) g.94564484G>A Copied from the Exome Variant Server ABCA4_000522 2/13006 1/8600 1/4406 - - - - - - -
?/? c.635G>A r.(?) p.(Arg212His) g.94564483C>T Copied from the Exome Variant Server ABCA4_000520 604/13006 293/8600 311/4406 - - - - - - -
?/? c.660C>T r.(=) p.(=) g.94564458G>A Copied from the Exome Variant Server ABCA4_000518 2/13006 2/8600 0/4406 - - - - - - -
?/? c.662G>A r.(?) p.(Gly221Glu) g.94564456C>T Copied from the Exome Variant Server ABCA4_000516 1/13006 1/8600 0/4406 - - - - - - -
?/? c.667A>C r.(?) p.(Lys223Gln) g.94564451T>G Copied from the Exome Variant Server ABCA4_000514 5/13006 1/8600 4/4406 - - - - - - -
?/? c.671C>T r.(?) p.(Thr224Met) g.94564447G>A Copied from the Exome Variant Server ABCA4_000582 1/13006 1/8600 0/4406 - - - - - - -
?/? c.672G>A r.(=) p.(=) g.94564446C>T Copied from the Exome Variant Server ABCA4_000581 36/13006 0/8600 36/4406 - - - - - - -
?/? c.676C>T r.(?) p.(Arg226Cys) g.94564442G>A Copied from the Exome Variant Server ABCA4_000580 3/13006 0/8600 3/4406 - - - - - - -
?/? c.677G>T r.(?) p.(Arg226Leu) g.94564441C>A Copied from the Exome Variant Server ABCA4_000579 9/13006 0/8600 9/4406 - - - - - - -
?/? c.682G>T r.(?) p.(Ala228Ser) g.94564436C>A Copied from the Exome Variant Server ABCA4_000578 1/13006 1/8600 0/4406 - - - - - - -
?/? c.741C>T r.(=) p.(=) g.94564377G>A Copied from the Exome Variant Server ABCA4_000577 2/13006 2/8600 0/4406 - - - - - - -
?/? c.742G>A r.(?) p.(Val248Met) g.94564376C>T Copied from the Exome Variant Server ABCA4_000594 1/13006 1/8600 0/4406 - - - - - - -
?/? c.751T>C r.(?) p.(Phe251Leu) g.94564367A>G Copied from the Exome Variant Server ABCA4_000506 2/13006 0/8600 2/4406 - - - - - - -
?/? c.764G>A r.(?) p.(Arg255His) g.94564354C>T Copied from the Exome Variant Server ABCA4_000504 1/13006 0/8600 1/4406 - - - - - - -
?/? c.766G>T r.(?) p.(Val256Leu) g.94564352C>A Copied from the Exome Variant Server ABCA4_000593 1/13006 1/8600 0/4406 - - - - - - -
?/? c.768+14T>A r.(=) p.(=) g.94564336A>T Copied from the Exome Variant Server ABCA4_000501 1/13006 0/8600 1/4406 - - - - - - -
?/? c.768+31G>T r.(=) p.(=) g.94564319C>A Copied from the Exome Variant Server ABCA4_000521 1/13006 0/8600 1/4406 - - - - - - -
?/? c.768+32C>T r.(=) p.(=) g.94564318G>A Copied from the Exome Variant Server ABCA4_000519 1/13006 0/8600 1/4406 - - - - - - -
?/? c.769-32T>C r.(=) p.(=) g.94549029A>G Copied from the Exome Variant Server ABCA4_000517 3181/12990 2640/8596 541/4394 - - - - - - -
?/? c.769-32_769-31insGT r.(=) p.(=) g.94549028_94549029insAC Copied from the Exome Variant Server ABCA4_000515 6/12504 0/8250 6/4254 - - - - - - -
?/? c.769-4A>G r.spl? p.? g.94549001T>C Copied from the Exome Variant Server ABCA4_000513 1/13006 0/8600 1/4406 - - - - - - -
?/? c.769-3C>T r.spl? p.? g.94549000G>A Copied from the Exome Variant Server ABCA4_000512 2/13006 1/8600 1/4406 - - - - - - -
?/? c.805A>C r.(?) p.(Asn269His) g.94548961T>G Copied from the Exome Variant Server ABCA4_000511 1/13006 0/8600 1/4406 - - - - - - -
?/? c.838A>T r.(?) p.(Met280Leu) g.94548928T>A Copied from the Exome Variant Server ABCA4_000510 21/13006 1/8600 20/4406 - - - - - - -
?/? c.857A>T r.(?) p.(Glu286Val) g.94548909T>A Copied from the Exome Variant Server ABCA4_000509 1/13006 0/8600 1/4406 - - - - - - -
?/? c.858+14T>C r.(=) p.(=) g.94548894A>G Copied from the Exome Variant Server ABCA4_000508 1/13006 0/8600 1/4406 - - - - - - -
?/? c.858+16G>A r.(=) p.(=) g.94548892C>T Copied from the Exome Variant Server ABCA4_000507 1/13006 1/8600 0/4406 - - - - - - -
?/? c.859-51A>T r.(=) p.(=) g.94546325T>A Copied from the Exome Variant Server ABCA4_000505 1/13006 1/8600 0/4406 - - - - - - -
?/? c.903G>A r.(=) p.(=) g.94546230C>T Copied from the Exome Variant Server ABCA4_000503 7/13006 0/8600 7/4406 - - - - - - -
?/? c.926C>G r.(?) p.(Pro309Arg) g.94546207G>C Copied from the Exome Variant Server ABCA4_000502 7/13006 0/8600 7/4406 - - - - - - -
?/? c.969G>A r.(=) p.(=) g.94546164C>T Copied from the Exome Variant Server ABCA4_000592 3/13006 0/8600 3/4406 - - - - - - -
?/? c.981C>T r.(=) p.(=) g.94546152G>A Copied from the Exome Variant Server ABCA4_000591 7/13006 6/8600 1/4406 - - - - - - -
?/? c.998G>A r.(?) p.(Arg333Gln) g.94546135C>T Copied from the Exome Variant Server ABCA4_000590 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1029T>C r.(=) p.(=) g.94546104A>G Copied from the Exome Variant Server ABCA4_000497 22/13006 21/8600 1/4406 - - - - - - -
?/? c.1040C>T r.(?) p.(Ala347Val) g.94546093G>A Copied from the Exome Variant Server ABCA4_000495 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1080T>C r.(=) p.(=) g.94546053A>G Copied from the Exome Variant Server ABCA4_000493 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1099+37C>T r.(=) p.(=) g.94545997G>A Copied from the Exome Variant Server ABCA4_000491 14/13006 0/8600 14/4406 - - - - - - -
?/? c.1100-22T>C r.(=) p.(=) g.94545039A>G Copied from the Exome Variant Server ABCA4_000489 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1127G>A r.(?) p.(Ser376Asn) g.94544990C>T Copied from the Exome Variant Server ABCA4_000487 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1140T>A r.(?) p.(Asn380Lys) g.94544977A>T Copied from the Exome Variant Server ABCA4_000485 9/13006 9/8600 0/4406 - - - - - - -
?/? c.1155C>T r.(=) p.(=) g.94544962G>A Copied from the Exome Variant Server ABCA4_000483 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1167G>A r.(=) p.(=) g.94544950C>T Copied from the Exome Variant Server ABCA4_000500 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1185G>T r.(?) p.(Met395Ile) g.94544932C>A Copied from the Exome Variant Server ABCA4_000499 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1197G>C r.(=) p.(=) g.94544920C>G Copied from the Exome Variant Server ABCA4_000498 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1211C>G r.(?) p.(Ser404*) g.94544906G>C Copied from the Exome Variant Server ABCA4_000496 1/13006 1/8600 0/4406 - - - - - - -
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