Full data view for gene ABCA7

Information The variants shown are described using the NM_019112.3 transcript reference sequence.

599 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.-35T>C r.(=) p.(=) g.1041326T>C Copied from the Exome Variant Server ABCA7_000001 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-24T>C r.(=) p.(=) g.1041337T>C Copied from the Exome Variant Server ABCA7_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-14T>C r.(=) p.(=) g.1041347T>C Copied from the Exome Variant Server ABCA7_000003 149/13006 139/8600 10/4406 - - - - - - -
?/? c.-9A>G r.(=) p.(=) g.1041352A>G Copied from the Exome Variant Server ABCA7_000004 451/13006 407/8600 44/4406 - - - - - - -
?/? c.-6C>T r.(=) p.(=) g.1041355C>T Copied from the Exome Variant Server ABCA7_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.52C>A r.(?) p.(Arg18Ser) g.1041412C>A Copied from the Exome Variant Server ABCA7_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.66+18G>C r.(=) p.(=) g.1041444G>C Copied from the Exome Variant Server ABCA7_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.66+32G>A r.(=) p.(=) g.1041458G>A Copied from the Exome Variant Server ABCA7_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.66+37del r.(=) p.(=) g.1041463del Copied from the Exome Variant Server ABCA7_000009 1/12516 0/8252 1/4264 - - - - - - -
?/? c.67-33G>C r.(=) p.(=) g.1041476G>C Copied from the Exome Variant Server ABCA7_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.67-21C>G r.(=) p.(=) g.1041488C>G Copied from the Exome Variant Server ABCA7_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.160+6del r.(=) p.(=) g.1041608del Copied from the Exome Variant Server ABCA7_000012 10/12516 4/8252 6/4264 - - - - - - -
?/? c.160+10C>G r.(=) p.(=) g.1041612C>G Copied from the Exome Variant Server ABCA7_000013 3/13004 3/8598 0/4406 - - - - - - -
?/? c.161-22A>G r.(=) p.(=) g.1041808A>G Copied from the Exome Variant Server ABCA7_000014 2/12910 1/8532 1/4378 - - - - - - -
?/? c.161-4G>T r.spl? p.? g.1041826G>T Copied from the Exome Variant Server ABCA7_000015 1/12878 1/8508 0/4370 - - - - - - -
?/? c.183G>T r.(=) p.(=) g.1041852G>T Copied from the Exome Variant Server ABCA7_000016 864/12814 332/8498 532/4316 - - - - - - -
?/? c.192G>C r.(=) p.(=) g.1041861G>C Copied from the Exome Variant Server ABCA7_000017 1/12868 1/8518 0/4350 - - - - - - -
?/? c.196A>C r.(?) p.(Thr66Pro) g.1041865A>C Copied from the Exome Variant Server ABCA7_000018 1/12856 0/8514 1/4342 - - - - - - -
?/? c.236A>C r.(?) p.(Asn79Thr) g.1041905A>C Copied from the Exome Variant Server ABCA7_000019 2/12968 0/8580 2/4388 - - - - - - -
?/? c.240C>T r.(=) p.(=) g.1041909C>T Copied from the Exome Variant Server ABCA7_000020 4/12970 4/8578 0/4392 - - - - - - -
?/? c.253C>A r.(?) p.(Leu85Met) g.1041922C>A Copied from the Exome Variant Server ABCA7_000021 12/12962 2/8574 10/4388 - - - - - - -
?/? c.261G>A r.(=) p.(=) g.1041930G>A Copied from the Exome Variant Server ABCA7_000022 1/12954 1/8574 0/4380 - - - - - - -
?/? c.266A>C r.(?) p.(Glu89Ala) g.1041935A>C Copied from the Exome Variant Server ABCA7_000023 1/12926 1/8562 0/4364 - - - - - - -
?/? c.302T>G r.(?) p.(Leu101Arg) g.1041971T>G Copied from the Exome Variant Server ABCA7_000024 8/12752 7/8464 1/4288 - - - - - - -
?/? c.302+26C>T r.(=) p.(=) g.1041997C>T Copied from the Exome Variant Server ABCA7_000025 1/12446 1/8306 0/4140 - - - - - - -
?/? c.303-31A>G r.(=) p.(=) g.1042032A>G Copied from the Exome Variant Server ABCA7_000026 3/12472 0/8292 3/4180 - - - - - - -
?/? c.303-16_303-15del r.(=) p.(=) g.1042047_1042048del Copied from the Exome Variant Server ABCA7_000027 101/12070 18/8010 83/4060 - - - - - - -
?/? c.303-4C>G r.spl? p.? g.1042059C>G Copied from the Exome Variant Server ABCA7_000028 1/12714 0/8438 1/4276 - - - - - - -
?/? c.314T>C r.(?) p.(Leu105Pro) g.1042074T>C Copied from the Exome Variant Server ABCA7_000029 1/12728 0/8424 1/4304 - - - - - - -
?/? c.315G>A r.(=) p.(=) g.1042075G>A Copied from the Exome Variant Server ABCA7_000030 1/12698 1/8408 0/4290 - - - - - - -
?/? c.326C>T r.(?) p.(Ala109Val) g.1042086C>T Copied from the Exome Variant Server ABCA7_000031 2/12676 0/8398 2/4278 - - - - - - -
?/? c.416-27C>T r.(=) p.(=) g.1042287C>T Copied from the Exome Variant Server ABCA7_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.416-18C>T r.(=) p.(=) g.1042296C>T Copied from the Exome Variant Server ABCA7_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.416-13G>T r.(=) p.(=) g.1042301G>T Copied from the Exome Variant Server ABCA7_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.416-3C>G r.spl? p.? g.1042311C>G Copied from the Exome Variant Server ABCA7_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.433A>G r.(?) p.(Lys145Glu) g.1042331A>G Copied from the Exome Variant Server ABCA7_000036 1/13004 1/8598 0/4406 - - - - - - -
?/? c.455C>T r.(?) p.(Pro152Leu) g.1042353C>T Copied from the Exome Variant Server ABCA7_000037 68/13006 0/8600 68/4406 - - - - - - -
?/? c.471G>A r.(=) p.(=) g.1042369G>A Copied from the Exome Variant Server ABCA7_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.481A>G r.(?) p.(Thr161Ala) g.1042379A>G Copied from the Exome Variant Server ABCA7_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.495C>T r.(=) p.(=) g.1042393C>T Copied from the Exome Variant Server ABCA7_000040 6/13002 0/8596 6/4406 - - - - - - -
?/? c.498G>C r.(=) p.(=) g.1042396G>C Copied from the Exome Variant Server ABCA7_000043 1/13002 1/8596 0/4406 - - - - - - -
?/? c.498+4G>C r.spl? p.? g.1042400G>C Copied from the Exome Variant Server ABCA7_000045 2/13002 0/8596 2/4406 - - - - - - -
?/? c.499-57G>T r.(=) p.(=) g.1042688G>T Copied from the Exome Variant Server ABCA7_000041 1/4566 0/3182 1/1384 - - - - - - -
?/? c.534G>T r.(?) p.(Glu178Asp) g.1042780G>T Copied from the Exome Variant Server ABCA7_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.563A>G r.(?) p.(Glu188Gly) g.1042809A>G Copied from the Exome Variant Server ABCA7_000044 5055/13006 4076/8600 979/4406 - - - - - - -
?/? c.567C>T r.(=) p.(=) g.1042813C>T Copied from the Exome Variant Server ABCA7_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.568C>G r.(?) p.(Leu190Val) g.1042814C>G Copied from the Exome Variant Server ABCA7_000047 2/13006 2/8600 0/4406 - - - - - - -
?/? c.579+19C>G r.(=) p.(=) g.1042844C>G Copied from the Exome Variant Server ABCA7_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.579+25C>T r.(=) p.(=) g.1042850C>T Copied from the Exome Variant Server ABCA7_000049 1101/13006 352/8600 749/4406 - - - - - - -
?/? c.579+40C>T r.(=) p.(=) g.1042865C>T Copied from the Exome Variant Server ABCA7_000050 1/13004 0/8600 1/4404 - - - - - - -
?/? c.579+45G>A r.(=) p.(=) g.1042870G>A Copied from the Exome Variant Server ABCA7_000051 1/13004 0/8598 1/4406 - - - - - - -
?/? c.580-20G>A r.(=) p.(=) g.1043020G>A Copied from the Exome Variant Server ABCA7_000052 1/12994 1/8588 0/4406 - - - - - - -
?/? c.580-10C>T r.(=) p.(=) g.1043030C>T Copied from the Exome Variant Server ABCA7_000053 1/12996 1/8590 0/4406 - - - - - - -
?/? c.587C>T r.(?) p.(Ala196Val) g.1043047C>T Copied from the Exome Variant Server ABCA7_000054 2/12996 0/8590 2/4406 - - - - - - -
?/? c.611G>A r.(?) p.(Arg204Gln) g.1043071G>A Copied from the Exome Variant Server ABCA7_000055 1/13002 1/8598 0/4404 - - - - - - -
?/? c.631C>G r.(?) p.(Arg211Gly) g.1043091C>G Copied from the Exome Variant Server ABCA7_000056 1/13002 1/8600 0/4402 - - - - - - -
?/? c.643G>A r.(?) p.(Gly215Ser) g.1043103G>A Copied from the Exome Variant Server ABCA7_000057 602/13002 537/8600 65/4402 - - - - - - -
?/? c.679G>A r.(?) p.(Val227Ile) g.1043139G>A Copied from the Exome Variant Server ABCA7_000058 2/13002 2/8598 0/4404 - - - - - - -
?/? c.692G>A r.(?) p.(Ser231Asn) g.1043152G>A Copied from the Exome Variant Server ABCA7_000059 2/13002 0/8596 2/4406 - - - - - - -
?/? c.723C>T r.(=) p.(=) g.1043183C>T Copied from the Exome Variant Server ABCA7_000060 83/13000 0/8594 83/4406 - - - - - - -
?/? c.733G>T r.(?) p.(Asp245Tyr) g.1043193G>T Copied from the Exome Variant Server ABCA7_000061 1/13004 1/8598 0/4406 - - - - - - -
?/? c.769G>A r.(?) p.(Ala257Thr) g.1043229G>A Copied from the Exome Variant Server ABCA7_000062 1/13000 0/8596 1/4404 - - - - - - -
?/? c.778G>T r.(?) p.(Asp260Tyr) g.1043238G>T Copied from the Exome Variant Server ABCA7_000063 1/13002 1/8598 0/4404 - - - - - - -
?/? c.790+10T>G r.(=) p.(=) g.1043260T>G Copied from the Exome Variant Server ABCA7_000064 512/13004 0/8598 512/4406 - - - - - - -
?/? c.790+40A>C r.(=) p.(=) g.1043290A>C Copied from the Exome Variant Server ABCA7_000065 1/12994 0/8596 1/4398 - - - - - - -
?/? c.791-26A>G r.(=) p.(=) g.1043307A>G Copied from the Exome Variant Server ABCA7_000066 1/13000 0/8596 1/4404 - - - - - - -
?/? c.791-10C>T r.(=) p.(=) g.1043323C>T Copied from the Exome Variant Server ABCA7_000067 1/13004 1/8598 0/4406 - - - - - - -
?/? c.791-9C>G r.(=) p.(=) g.1043324C>G Copied from the Exome Variant Server ABCA7_000068 778/13004 721/8598 57/4406 - - - - - - -
?/? c.795C>T r.(=) p.(=) g.1043337C>T Copied from the Exome Variant Server ABCA7_000069 1/13004 0/8598 1/4406 - - - - - - -
?/? c.796G>A r.(?) p.(Ala266Thr) g.1043338G>A Copied from the Exome Variant Server ABCA7_000070 1/13004 1/8598 0/4406 - - - - - - -
?/? c.804G>A r.(=) p.(=) g.1043346G>A Copied from the Exome Variant Server ABCA7_000071 1/13004 0/8598 1/4406 - - - - - - -
?/? c.805G>T r.(?) p.(Glu269*) g.1043347G>T Copied from the Exome Variant Server ABCA7_000072 1/13004 0/8598 1/4406 - - - - - - -
?/? c.808C>T r.(=) p.(=) g.1043350C>T Copied from the Exome Variant Server ABCA7_000073 12/13004 10/8598 2/4406 - - - - - - -
?/? c.832C>T r.(?) p.(Pro278Ser) g.1043374C>T Copied from the Exome Variant Server ABCA7_000074 1/13004 0/8598 1/4406 - - - - - - -
?/? c.842G>A r.(?) p.(Arg281His) g.1043384G>A Copied from the Exome Variant Server ABCA7_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.853A>T r.(?) p.(Arg285*) g.1043395A>T Copied from the Exome Variant Server ABCA7_000076 5/13006 0/8600 5/4406 - - - - - - -
?/? c.857G>A r.(?) p.(Arg286His) g.1043399G>A Copied from the Exome Variant Server ABCA7_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.876C>T r.(=) p.(=) g.1043418C>T Copied from the Exome Variant Server ABCA7_000078 2/13006 0/8600 2/4406 - - - - - - -
?/? c.926del r.(?) p.(Gln310Argfs*2) g.1043468del Copied from the Exome Variant Server ABCA7_000079 1/12518 0/8254 1/4264 - - - - - - -
?/? c.930+42G>C r.(=) p.(=) g.1043514G>C Copied from the Exome Variant Server ABCA7_000080 1/13002 1/8598 0/4404 - - - - - - -
?/? c.931-35G>A r.(=) p.(=) g.1043689G>A Copied from the Exome Variant Server ABCA7_000081 5/13006 4/8600 1/4406 - - - - - - -
?/? c.931-26A>G r.(=) p.(=) g.1043698A>G Copied from the Exome Variant Server ABCA7_000082 3/13006 3/8600 0/4406 - - - - - - -
?/? c.946G>A r.(?) p.(Glu316Lys) g.1043739G>A Copied from the Exome Variant Server ABCA7_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.954C>T r.(=) p.(=) g.1043747C>T Copied from the Exome Variant Server ABCA7_000084 39/13006 33/8600 6/4406 - - - - - - -
?/? c.955A>G r.(?) p.(Thr319Ala) g.1043748A>G Copied from the Exome Variant Server ABCA7_000085 1470/13006 351/8600 1119/4406 - - - - - - -
?/? c.957C>G r.(=) p.(=) g.1043750C>G Copied from the Exome Variant Server ABCA7_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.973C>T r.(?) p.(Arg325Trp) g.1043766C>T Copied from the Exome Variant Server ABCA7_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1000C>T r.(?) p.(Arg334Trp) g.1043793C>T Copied from the Exome Variant Server ABCA7_000088 4/13006 2/8600 2/4406 - - - - - - -
?/? c.1047+6C>T r.(=) p.(=) g.1043846C>T Copied from the Exome Variant Server ABCA7_000089 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1047+24G>C r.(=) p.(=) g.1043864G>C Copied from the Exome Variant Server ABCA7_000090 4549/13006 3619/8600 930/4406 - - - - - - -
?/? c.1048-35C>A r.(=) p.(=) g.1044541C>A Copied from the Exome Variant Server ABCA7_000092 3/13000 3/8598 0/4402 - - - - - - -
?/? c.1061T>C r.(?) p.(Met354Thr) g.1044589T>C Copied from the Exome Variant Server ABCA7_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1083G>A r.(=) p.(=) g.1044611G>A Copied from the Exome Variant Server ABCA7_000091 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1091C>G r.(?) p.(Pro364Arg) g.1044619C>G Copied from the Exome Variant Server ABCA7_000093 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1144G>A r.(?) p.(Gly382Ser) g.1044672G>A Copied from the Exome Variant Server ABCA7_000095 2/13004 0/8600 2/4404 - - - - - - -
?/? c.1162G>A r.(?) p.(Asp388Asn) g.1044690G>A Copied from the Exome Variant Server ABCA7_000096 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1176T>C r.(=) p.(=) g.1044704T>C Copied from the Exome Variant Server ABCA7_000097 1/12998 1/8598 0/4400 - - - - - - -
?/? c.1180_1190del r.(?) p.(Leu396Alafs*45) g.1044708_1044718del Copied from the Exome Variant Server ABCA7_000098 13/12508 0/8248 13/4260 - - - - - - -
?/? c.1184A>G r.(?) p.(His395Arg) g.1044712A>G Copied from the Exome Variant Server ABCA7_000099 1402/12994 348/8596 1054/4398 - - - - - - -
?/? c.1215+10T>C r.(=) p.(=) g.1044753T>C Copied from the Exome Variant Server ABCA7_000100 9046/12948 5904/8576 3142/4372 - - - - - - -
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