Unique variants in gene GAA

Information The variants shown are described using the NM_000152.3 transcript reference sequence.

276 entries on 3 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.-32-17G>A r.(=) p.(=) g.78078337G>A Copied from the Exome Variant Server GAA_000001 1/12960 1/8568 0/4392
1 c.-32-13T>G r.(=) p.(=) g.78078341T>G Copied from the Exome Variant Server GAA_000002 54/12966 49/8574 5/4392
1 c.-18T>A r.(=) p.(=) g.78078368T>A Copied from the Exome Variant Server GAA_000003 1/13000 0/8596 1/4404
1 c.11G>A r.(?) p.(Arg4Lys) g.78078396G>A Copied from the Exome Variant Server GAA_000004 2/13000 2/8596 0/4404
1 c.32G>A r.(?) p.(Arg11Gln) g.78078417G>A Copied from the Exome Variant Server GAA_000005 7/12994 2/8594 5/4400
1 c.42C>G r.(=) p.(=) g.78078427C>G Copied from the Exome Variant Server GAA_000006 1/12996 0/8596 1/4400
1 c.50C>T r.(?) p.(Ala17Val) g.78078435C>T Copied from the Exome Variant Server GAA_000007 1/13002 0/8598 1/4404
1 c.55G>A r.(?) p.(Val19Met) g.78078440G>A Copied from the Exome Variant Server GAA_000008 1/13006 1/8600 0/4406
1 c.70G>A r.(?) p.(Ala24Thr) g.78078455G>A Copied from the Exome Variant Server GAA_000009 2/13004 2/8598 0/4406
1 c.76C>T r.(?) p.(Leu26Phe) g.78078461C>T Copied from the Exome Variant Server GAA_000010 1/13006 0/8600 1/4406
1 c.99T>C r.(=) p.(=) g.78078484T>C Copied from the Exome Variant Server GAA_000011 1/13002 1/8596 0/4406
1 c.109C>G r.(?) p.(Leu37Val) g.78078494C>G Copied from the Exome Variant Server GAA_000012 2/13002 2/8598 0/4404
1 c.119G>A r.(?) p.(Arg40Gln) g.78078504G>A Copied from the Exome Variant Server GAA_000013 1/13002 0/8598 1/4404
1 c.157C>A r.(?) p.(His53Asn) g.78078542C>A Copied from the Exome Variant Server GAA_000014 1/12984 1/8592 0/4392
1 c.197G>A r.(?) p.(Arg66Gln) g.78078582G>A Copied from the Exome Variant Server GAA_000015 1/12982 1/8590 0/4392
1 c.205C>G r.(?) p.(Gln69Glu) g.78078590C>G Copied from the Exome Variant Server GAA_000016 1/12978 1/8592 0/4386
1 c.249C>T r.(=) p.(=) g.78078634C>T Copied from the Exome Variant Server GAA_000017 1/12998 1/8596 0/4402
1 c.250G>A r.(?) p.(Val84Ile) g.78078635G>A Copied from the Exome Variant Server GAA_000018 1/12998 0/8596 1/4402
1 c.257C>A r.(?) p.(Pro86His) g.78078642C>A Copied from the Exome Variant Server GAA_000019 1/13000 0/8596 1/4404
1 c.258C>A r.(=) p.(=) g.78078643C>A Copied from the Exome Variant Server GAA_000020 17/13002 0/8598 17/4404
1 c.266G>A r.(?) p.(Arg89His) g.78078651G>A Copied from the Exome Variant Server GAA_000021 3/13004 3/8598 0/4406
1 c.271G>A r.(?) p.(Asp91Asn) g.78078656G>A Copied from the Exome Variant Server GAA_000022 300/13006 271/8600 29/4406
1 c.277G>A r.(?) p.(Ala93Thr) g.78078662G>A Copied from the Exome Variant Server GAA_000023 4/13004 3/8598 1/4406
1 c.309C>T r.(=) p.(=) g.78078694C>T Copied from the Exome Variant Server GAA_000024 1/13006 1/8600 0/4406
1 c.310G>C r.(?) p.(Glu104Gln) g.78078695G>C Copied from the Exome Variant Server GAA_000025 1/13006 1/8600 0/4406
1 c.319G>T r.(?) p.(Gly107Cys) g.78078704G>T Copied from the Exome Variant Server GAA_000026 1/12998 1/8596 0/4402
1 c.324T>C r.(=) p.(=) g.78078709T>C Copied from the Exome Variant Server GAA_000027 9512/13002 6440/8598 3072/4404
1 c.362A>G r.(?) p.(Gln121Arg) g.78078747A>G Copied from the Exome Variant Server GAA_000028 3/13002 0/8598 3/4404
1 c.368G>A r.(?) p.(Gly123Glu) g.78078753G>A Copied from the Exome Variant Server GAA_000029 1/13004 0/8600 1/4404
1 c.447G>A r.(=) p.(=) g.78078832G>A Copied from the Exome Variant Server GAA_000030 38/12986 33/8582 5/4404
1 c.468C>T r.(=) p.(=) g.78078853C>T Copied from the Exome Variant Server GAA_000031 1/12938 0/8554 1/4384
1 c.525del r.(?) p.(Glu176Argfs*45) g.78078910del Copied from the Exome Variant Server GAA_000032 2/12176 1/8052 1/4124
1 c.526G>A r.(?) p.(Glu176Lys) g.78078911G>A Copied from the Exome Variant Server GAA_000033 1/12696 1/8418 0/4278
1 c.546G>A r.(=) p.(=) g.78078931G>A Copied from the Exome Variant Server GAA_000034 1/12330 0/8196 1/4134
1 c.546+3G>A r.spl? p.? g.78078934G>A Copied from the Exome Variant Server GAA_000035 2/12324 2/8192 0/4132
1 c.546+6C>T r.(=) p.(=) g.78078937C>T Copied from the Exome Variant Server GAA_000036 2/12382 0/8224 2/4158
1 c.546+18G>A r.(=) p.(=) g.78078949G>A Copied from the Exome Variant Server GAA_000037 63/12216 0/8092 63/4124
1 c.546+47G>A r.(=) p.(=) g.78078978G>A Copied from the Exome Variant Server GAA_000038 2/12428 0/8262 2/4166
1 c.547-39T>G r.(=) p.(=) g.78079509T>G Copied from the Exome Variant Server GAA_000039 8703/13006 6323/8600 2380/4406
1 c.547-21A>G r.(=) p.(=) g.78079527A>G Copied from the Exome Variant Server GAA_000040 2/13006 1/8600 1/4406
1 c.547-4C>G r.spl? p.? g.78079544C>G Copied from the Exome Variant Server GAA_000041 8749/13006 6350/8600 2399/4406
1 c.571T>C r.(?) p.(Tyr191His) g.78079572T>C Copied from the Exome Variant Server GAA_000042 1/13006 0/8600 1/4406
1 c.573C>T r.(=) p.(=) g.78079574C>T Copied from the Exome Variant Server GAA_000043 1/13006 1/8600 0/4406
1 c.596A>G r.(?) p.(His199Arg) g.78079597A>G Copied from the Exome Variant Server GAA_000044 8747/13006 6349/8600 2398/4406
1 c.600C>T r.(=) p.(=) g.78079601C>T Copied from the Exome Variant Server GAA_000045 4/13006 0/8600 4/4406
1 c.615G>A r.(=) p.(=) g.78079616G>A Copied from the Exome Variant Server GAA_000046 1/13006 1/8600 0/4406
1 c.618C>T r.(=) p.(=) g.78079619C>T Copied from the Exome Variant Server GAA_000047 2/13006 0/8600 2/4406
1 c.642C>T r.(=) p.(=) g.78079643C>T Copied from the Exome Variant Server GAA_000048 2240/13006 1892/8600 348/4406
1 c.655G>A r.(?) p.(Gly219Arg) g.78079656G>A Copied from the Exome Variant Server GAA_000049 1/13006 1/8600 0/4406
1 c.663C>T r.(=) p.(=) g.78079664C>T Copied from the Exome Variant Server GAA_000050 3/13006 3/8600 0/4406
1 c.664G>A r.(?) p.(Val222Met) g.78079665G>A Copied from the Exome Variant Server GAA_000051 1/13006 1/8600 0/4406
1 c.668G>A r.(?) p.(Arg223His) g.78079669G>A Copied from the Exome Variant Server GAA_000052 8744/13004 6348/8600 2396/4404
1 c.676C>G r.(?) p.(Leu226Val) g.78079677C>G Copied from the Exome Variant Server GAA_000053 30/13004 5/8600 25/4404
1 c.687C>T r.(=) p.(=) g.78079688C>T Copied from the Exome Variant Server GAA_000054 1/13004 1/8600 0/4404
1 c.688G>A r.(?) p.(Val230Met) g.78079689G>A Copied from the Exome Variant Server GAA_000055 9/13004 0/8600 9/4404
1 c.692+9T>C r.(=) p.(=) g.78079702T>C Copied from the Exome Variant Server GAA_000056 1/13002 1/8598 0/4404
1 c.692+17G>C r.(=) p.(=) g.78079710G>C Copied from the Exome Variant Server GAA_000057 11/13004 9/8600 2/4404
1 c.692+38C>T r.(=) p.(=) g.78079731C>T Copied from the Exome Variant Server GAA_000058 73/13000 55/8594 18/4406
1 c.692+44G>A r.(=) p.(=) g.78079737G>A Copied from the Exome Variant Server GAA_000059 1/12998 0/8592 1/4406
1 c.693-49C>T r.(=) p.(=) g.78081307C>T Copied from the Exome Variant Server GAA_000060 1298/13006 618/8600 680/4406
1 c.693-48G>T r.(=) p.(=) g.78081308G>T Copied from the Exome Variant Server GAA_000061 1/13006 1/8600 0/4406
1 c.693-4G>T r.spl? p.? g.78081352G>T Copied from the Exome Variant Server GAA_000062 2/13006 2/8600 0/4406
1 c.711G>A r.(=) p.(=) g.78081374G>A Copied from the Exome Variant Server GAA_000063 1/13006 0/8600 1/4406
1 c.726G>A r.(=) p.(=) g.78081389G>A Copied from the Exome Variant Server GAA_000064 14/13006 0/8600 14/4406
1 c.780C>T r.(=) p.(=) g.78081443C>T Copied from the Exome Variant Server GAA_000065 2/13006 2/8600 0/4406
1 c.841C>T r.(?) p.(Arg281Trp) g.78081504C>T Copied from the Exome Variant Server GAA_000066 5/13006 4/8600 1/4406
1 c.851C>G r.(?) p.(Ala284Gly) g.78081514C>G Copied from the Exome Variant Server GAA_000067 2/13006 0/8600 2/4406
1 c.852G>A r.(=) p.(=) g.78081515G>A Copied from the Exome Variant Server GAA_000068 111/13006 103/8600 8/4406
1 c.858G>A r.(=) p.(=) g.78081521G>A Copied from the Exome Variant Server GAA_000069 1/13002 1/8598 0/4404
1 c.858+17C>T r.(=) p.(=) g.78081538C>T Copied from the Exome Variant Server GAA_000070 2/12982 1/8584 1/4398
1 c.858+30T>C r.(=) p.(=) g.78081551T>C Copied from the Exome Variant Server GAA_000071 8591/12946 6257/8554 2334/4392
1 c.859-31G>A r.(=) p.(=) g.78081568G>A Copied from the Exome Variant Server GAA_000072 1/12980 0/8584 1/4396
1 c.859-21G>A r.(=) p.(=) g.78081578G>A Copied from the Exome Variant Server GAA_000073 62/12984 1/8588 61/4396
1 c.859-18G>A r.(=) p.(=) g.78081581G>A Copied from the Exome Variant Server GAA_000074 9/12986 1/8592 8/4394
1 c.859C>T r.(?) p.(Pro287Ser) g.78081599C>T Copied from the Exome Variant Server GAA_000075 1/12992 1/8594 0/4398
1 c.866C>T r.(?) p.(Ala289Val) g.78081606C>T Copied from the Exome Variant Server GAA_000076 1/13002 0/8600 1/4402
1 c.910G>A r.(?) p.(Gly304Ser) g.78081650G>A Copied from the Exome Variant Server GAA_000077 1/12998 1/8598 0/4400
1 c.912C>T r.(=) p.(=) g.78081652C>T Copied from the Exome Variant Server GAA_000078 1/12998 1/8598 0/4400
1 c.915G>A r.(=) p.(=) g.78081655G>A Copied from the Exome Variant Server GAA_000079 17/13000 13/8598 4/4402
1 c.917C>T r.(?) p.(Ser306Leu) g.78081657C>T Copied from the Exome Variant Server GAA_000080 42/13000 1/8598 41/4402
1 c.918G>A r.(=) p.(=) g.78081658G>A Copied from the Exome Variant Server GAA_000081 1/13000 0/8598 1/4402
1 c.921A>T r.(=) p.(=) g.78081661A>T Copied from the Exome Variant Server GAA_000082 1577/13000 618/8598 959/4402
1 c.922C>T r.(?) p.(His308Tyr) g.78081662C>T Copied from the Exome Variant Server GAA_000083 1/13000 0/8598 1/4402
1 c.924C>A r.(?) p.(His308Gln) g.78081664C>A Copied from the Exome Variant Server GAA_000084 1/13002 0/8600 1/4402
1 c.955+12G>A r.(=) p.(=) g.78081707G>A Copied from the Exome Variant Server GAA_000085 8944/12948 6472/8578 2472/4370
1 c.955+43G>C r.(=) p.(=) g.78081738G>C Copied from the Exome Variant Server GAA_000086 3/12720 3/8460 0/4260
1 c.955+51_955+52insG r.(=) p.(=) g.78081746_78081747insG Copied from the Exome Variant Server GAA_000087 23/12120 9/8028 14/4092
1 c.956-42T>C r.(=) p.(=) g.78082047T>C Copied from the Exome Variant Server GAA_000088 1/13006 1/8600 0/4406
1 c.956-31T>C r.(=) p.(=) g.78082058T>C Copied from the Exome Variant Server GAA_000089 39/13006 0/8600 39/4406
1 c.956-8C>A r.(=) p.(=) g.78082081C>A Copied from the Exome Variant Server GAA_000090 1/13006 0/8600 1/4406
1 c.1019A>G r.(?) p.(Tyr340Cys) g.78082152A>G Copied from the Exome Variant Server GAA_000091 5/13006 0/8600 5/4406
1 c.1047C>T r.(=) p.(=) g.78082180C>T Copied from the Exome Variant Server GAA_000092 1/13006 1/8600 0/4406
1 c.1048G>A r.(?) p.(Val350Met) g.78082181G>A Copied from the Exome Variant Server GAA_000093 1/13006 1/8600 0/4406
1 c.1059G>A r.(=) p.(=) g.78082192G>A Copied from the Exome Variant Server GAA_000094 1/13006 0/8600 1/4406
1 c.1075+12T>G r.(=) p.(=) g.78082220T>G Copied from the Exome Variant Server GAA_000095 1/13004 1/8600 0/4404
1 c.1075+13C>T r.(=) p.(=) g.78082221C>T Copied from the Exome Variant Server GAA_000096 157/13002 143/8600 14/4402
1 c.1075+14C>T r.(=) p.(=) g.78082222C>T Copied from the Exome Variant Server GAA_000097 1/13002 0/8600 1/4402
1 c.1075+20C>T r.(=) p.(=) g.78082228C>T Copied from the Exome Variant Server GAA_000098 1/13002 0/8600 1/4402
1 c.1075+21G>A r.(=) p.(=) g.78082229G>A Copied from the Exome Variant Server GAA_000099 1/13004 1/8600 0/4404
1 c.1076-16C>T r.(=) p.(=) g.78082272C>T Copied from the Exome Variant Server GAA_000100 1/13004 0/8600 1/4404
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