Full data view for gene AKAP2

Information The variants shown are described using the NM_001004065.4 transcript reference sequence.

147 entries on 2 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.35_52del r.(?) p.(Leu12_Gly18delinsArg) g.112811014_112811031del Copied from the Exome Variant Server AKAP2_000001 17/8058 15/5720 2/2338 - - - - - - -
?/? c.59C>T r.(?) p.(Pro20Leu) g.112811038C>T Copied from the Exome Variant Server AKAP2_000002 703/8732 557/6168 146/2564 - - - - - - -
?/? c.84G>T r.(=) p.(=) g.112811063G>T Copied from the Exome Variant Server AKAP2_000003 5/8280 5/5940 0/2340 - - - - - - -
?/? c.157-28C>G r.(=) p.(=) g.112898379C>G Copied from the Exome Variant Server AKAP2_000004 2/13006 0/8600 2/4406 - - - - - - -
?/? c.182A>G r.(?) p.(Asp61Gly) g.112898432A>G Copied from the Exome Variant Server AKAP2_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.206_208del r.(?) p.(Asn70del) g.112898456_112898458del Copied from the Exome Variant Server AKAP2_000006 2/12518 0/8254 2/4264 - - - - - - -
?/? c.237T>C r.(=) p.(=) g.112898487T>C Copied from the Exome Variant Server AKAP2_000007 4/13006 3/8600 1/4406 - - - - - - -
?/? c.278A>G r.(?) p.(Glu93Gly) g.112898528A>G Copied from the Exome Variant Server AKAP2_000008 3/13006 3/8600 0/4406 - - - - - - -
?/? c.294A>G r.(=) p.(=) g.112898544A>G Copied from the Exome Variant Server AKAP2_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.317C>T r.(?) p.(Thr106Ile) g.112898567C>T Copied from the Exome Variant Server AKAP2_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.318C>T r.(=) p.(=) g.112898568C>T Copied from the Exome Variant Server AKAP2_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.326C>T r.(?) p.(Pro109Leu) g.112898576C>T Copied from the Exome Variant Server AKAP2_000012 107/13006 82/8600 25/4406 - - - - - - -
?/? c.349G>A r.(?) p.(Ala117Thr) g.112898599G>A Copied from the Exome Variant Server AKAP2_000013 8/13006 1/8600 7/4406 - - - - - - -
?/? c.385G>C r.(?) p.(Asp129His) g.112898635G>C Copied from the Exome Variant Server AKAP2_000014 14/13006 0/8600 14/4406 - - - - - - -
?/? c.437A>G r.(?) p.(Asp146Gly) g.112898687A>G Copied from the Exome Variant Server AKAP2_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.451G>A r.(?) p.(Ala151Thr) g.112898701G>A Copied from the Exome Variant Server AKAP2_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.453C>G r.(=) p.(=) g.112898703C>G Copied from the Exome Variant Server AKAP2_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.458G>A r.(?) p.(Cys153Tyr) g.112898708G>A Copied from the Exome Variant Server AKAP2_000019 287/13006 3/8600 284/4406 - - - - - - -
?/? c.469G>A r.(?) p.(Ala157Thr) g.112898719G>A Copied from the Exome Variant Server AKAP2_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.472G>A r.(?) p.(Val158Met) g.112898722G>A Copied from the Exome Variant Server AKAP2_000023 22/13006 0/8600 22/4406 - - - - - - -
?/? c.482C>T r.(?) p.(Thr161Met) g.112898732C>T Copied from the Exome Variant Server AKAP2_000025 3/13006 1/8600 2/4406 - - - - - - -
?/? c.486C>G r.(?) p.(Tyr162*) g.112898736C>G Copied from the Exome Variant Server AKAP2_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.519G>T r.(=) p.(=) g.112898769G>T Copied from the Exome Variant Server AKAP2_000029 2/13006 2/8600 0/4406 - - - - - - -
?/? c.528G>A r.(=) p.(=) g.112898778G>A Copied from the Exome Variant Server AKAP2_000031 14/13006 0/8600 14/4406 - - - - - - -
?/? c.532G>A r.(?) p.(Gly178Ser) g.112898782G>A Copied from the Exome Variant Server AKAP2_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.541C>A r.(?) p.(Pro181Thr) g.112898791C>A Copied from the Exome Variant Server AKAP2_000018 3/13006 1/8600 2/4406 - - - - - - -
?/? c.552C>T r.(=) p.(=) g.112898802C>T Copied from the Exome Variant Server AKAP2_000020 227/13006 3/8600 224/4406 - - - - - - -
?/? c.557C>T r.(?) p.(Ala186Val) g.112898807C>T Copied from the Exome Variant Server AKAP2_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.558G>A r.(=) p.(=) g.112898808G>A Copied from the Exome Variant Server AKAP2_000024 53/13006 1/8600 52/4406 - - - - - - -
?/? c.563A>G r.(?) p.(Gln188Arg) g.112898813A>G Copied from the Exome Variant Server AKAP2_000026 2/13006 0/8600 2/4406 - - - - - - -
?/? c.592C>T r.(?) p.(Arg198Trp) g.112898842C>T Copied from the Exome Variant Server AKAP2_000028 16/13006 12/8600 4/4406 - - - - - - -
?/? c.593G>A r.(?) p.(Arg198Gln) g.112898843G>A Copied from the Exome Variant Server AKAP2_000030 287/13006 3/8600 284/4406 - - - - - - -
?/? c.609C>T r.(=) p.(=) g.112898859C>T Copied from the Exome Variant Server AKAP2_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.610A>G r.(?) p.(Ile204Val) g.112898860A>G Copied from the Exome Variant Server AKAP2_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.615G>A r.(=) p.(=) g.112898865G>A Copied from the Exome Variant Server AKAP2_000035 2/13006 0/8600 2/4406 - - - - - - -
?/? c.692C>T r.(?) p.(Ala231Val) g.112898942C>T Copied from the Exome Variant Server AKAP2_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.703A>G r.(?) p.(Ser235Gly) g.112898953A>G Copied from the Exome Variant Server AKAP2_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.732C>G r.(=) p.(=) g.112898982C>G Copied from the Exome Variant Server AKAP2_000041 3/13006 2/8600 1/4406 - - - - - - -
?/? c.745C>T r.(?) p.(Arg249Trp) g.112898995C>T Copied from the Exome Variant Server AKAP2_000043 3/13006 2/8600 1/4406 - - - - - - -
?/? c.746G>A r.(?) p.(Arg249Gln) g.112898996G>A Copied from the Exome Variant Server AKAP2_000045 13/13006 11/8600 2/4406 - - - - - - -
?/? c.758G>A r.(?) p.(Arg253Gln) g.112899008G>A Copied from the Exome Variant Server AKAP2_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.784C>T r.(=) p.(=) g.112899034C>T Copied from the Exome Variant Server AKAP2_000050 107/13006 82/8600 25/4406 - - - - - - -
?/? c.793G>A r.(?) p.(Glu265Lys) g.112899043G>A Copied from the Exome Variant Server AKAP2_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.858C>G r.(?) p.(Asp286Glu) g.112899108C>G Copied from the Exome Variant Server AKAP2_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.860A>G r.(?) p.(Glu287Gly) g.112899110A>G Copied from the Exome Variant Server AKAP2_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.864T>G r.(?) p.(His288Gln) g.112899114T>G Copied from the Exome Variant Server AKAP2_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.958G>A r.(?) p.(Val320Ile) g.112899208G>A Copied from the Exome Variant Server AKAP2_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.972T>A r.(=) p.(=) g.112899222T>A Copied from the Exome Variant Server AKAP2_000061 5/13006 5/8600 0/4406 - - - - - - -
?/? c.980C>T r.(?) p.(Ala327Val) g.112899230C>T Copied from the Exome Variant Server AKAP2_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.997C>T r.(?) p.(Pro333Ser) g.112899247C>T Copied from the Exome Variant Server AKAP2_000065 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1032C>T r.(=) p.(=) g.112899282C>T Copied from the Exome Variant Server AKAP2_000036 42/13006 1/8600 41/4406 - - - - - - -
?/? c.1067A>T r.(?) p.(Glu356Val) g.112899317A>T Copied from the Exome Variant Server AKAP2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1070G>A r.(?) p.(Arg357His) g.112899320G>A Copied from the Exome Variant Server AKAP2_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1107G>A r.(=) p.(=) g.112899357G>A Copied from the Exome Variant Server AKAP2_000042 7/12998 0/8596 7/4402 - - - - - - -
?/? c.1111A>C r.(?) p.(Lys371Gln) g.112899361A>C Copied from the Exome Variant Server AKAP2_000044 11188/12994 6953/8594 4235/4400 - - - - - - -
?/? c.1115A>C r.(?) p.(Gln372Pro) g.112899365A>C Copied from the Exome Variant Server AKAP2_000046 2/12976 2/8586 0/4390 - - - - - - -
?/? c.1140C>T r.(=) p.(=) g.112899390C>T Copied from the Exome Variant Server AKAP2_000047 1/12796 0/8468 1/4328 - - - - - - -
?/? c.1176T>G r.(?) p.(His392Gln) g.112899426T>G Copied from the Exome Variant Server AKAP2_000049 1/12842 1/8510 0/4332 - - - - - - -
?/? c.1180C>T r.(?) p.(Arg394Cys) g.112899430C>T Copied from the Exome Variant Server AKAP2_000051 118/12868 4/8518 114/4350 - - - - - - -
?/? c.1238C>T r.(?) p.(Ser413Phe) g.112899488C>T Copied from the Exome Variant Server AKAP2_000054 1/12996 0/8590 1/4406 - - - - - - -
?/? c.1240G>A r.(?) p.(Ala414Thr) g.112899490G>A Copied from the Exome Variant Server AKAP2_000056 2/12994 2/8590 0/4404 - - - - - - -
?/? c.1246C>T r.(?) p.(Arg416Cys) g.112899496C>T Copied from the Exome Variant Server AKAP2_000058 1/13002 1/8600 0/4402 - - - - - - -
?/? c.1252C>G r.(?) p.(Gln418Glu) g.112899502C>G Copied from the Exome Variant Server AKAP2_000060 1/13000 0/8600 1/4400 - - - - - - -
?/? c.1282G>A r.(?) p.(Ala428Thr) g.112899532G>A Copied from the Exome Variant Server AKAP2_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1283C>T r.(?) p.(Ala428Val) g.112899533C>T Copied from the Exome Variant Server AKAP2_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1284G>A r.(=) p.(=) g.112899534G>A Copied from the Exome Variant Server AKAP2_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1376A>T r.(?) p.(Asn459Ile) g.112899626A>T Copied from the Exome Variant Server AKAP2_000067 43/13006 1/8600 42/4406 - - - - - - -
?/? c.1379C>T r.(?) p.(Pro460Leu) g.112899629C>T Copied from the Exome Variant Server AKAP2_000068 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1395C>T r.(=) p.(=) g.112899645C>T Copied from the Exome Variant Server AKAP2_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1398G>C r.(=) p.(=) g.112899648G>C Copied from the Exome Variant Server AKAP2_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1408G>C r.(?) p.(Glu470Gln) g.112899658G>C Copied from the Exome Variant Server AKAP2_000071 33/13006 0/8600 33/4406 - - - - - - -
?/? c.1422C>T r.(=) p.(=) g.112899672C>T Copied from the Exome Variant Server AKAP2_000072 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1450G>A r.(?) p.(Gly484Ser) g.112899700G>A Copied from the Exome Variant Server AKAP2_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1465C>A r.(?) p.(Pro489Thr) g.112899715C>A Copied from the Exome Variant Server AKAP2_000074 53/13006 49/8600 4/4406 - - - - - - -
?/? c.1470G>A r.(=) p.(=) g.112899720G>A Copied from the Exome Variant Server AKAP2_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1517C>G r.(?) p.(Pro506Arg) g.112899767C>G Copied from the Exome Variant Server AKAP2_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1537C>T r.(?) p.(Arg513Cys) g.112899787C>T Copied from the Exome Variant Server AKAP2_000077 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1546T>G r.(?) p.(Leu516Val) g.112899796T>G Copied from the Exome Variant Server AKAP2_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1566G>A r.(=) p.(=) g.112899816G>A Copied from the Exome Variant Server AKAP2_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1569T>G r.(?) p.(Asp523Glu) g.112899819T>G Copied from the Exome Variant Server AKAP2_000080 18/13006 0/8600 18/4406 - - - - - - -
?/? c.1583G>A r.(?) p.(Ser528Asn) g.112899833G>A Copied from the Exome Variant Server AKAP2_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1584C>T r.(=) p.(=) g.112899834C>T Copied from the Exome Variant Server AKAP2_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1585G>A r.(?) p.(Ala529Thr) g.112899835G>A Copied from the Exome Variant Server AKAP2_000083 5/13006 4/8600 1/4406 - - - - - - -
?/? c.1704G>A r.(=) p.(=) g.112899954G>A Copied from the Exome Variant Server AKAP2_000084 36/13006 3/8600 33/4406 - - - - - - -
?/? c.1738C>G r.(?) p.(Leu580Val) g.112899988C>G Copied from the Exome Variant Server AKAP2_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1745A>G r.(?) p.(Asn582Ser) g.112899995A>G Copied from the Exome Variant Server AKAP2_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1746T>C r.(=) p.(=) g.112899996T>C Copied from the Exome Variant Server AKAP2_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1777G>A r.(?) p.(Gly593Arg) g.112900027G>A Copied from the Exome Variant Server AKAP2_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1782A>C r.(=) p.(=) g.112900032A>C Copied from the Exome Variant Server AKAP2_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1785C>A r.(=) p.(=) g.112900035C>A Copied from the Exome Variant Server AKAP2_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1799A>G r.(?) p.(Asn600Ser) g.112900049A>G Copied from the Exome Variant Server AKAP2_000095 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1816T>G r.(?) p.(Ser606Ala) g.112900066T>G Copied from the Exome Variant Server AKAP2_000097 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1830T>A r.(?) p.(Phe610Leu) g.112900080T>A Copied from the Exome Variant Server AKAP2_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1860C>T r.(=) p.(=) g.112900110C>T Copied from the Exome Variant Server AKAP2_000101 19/13006 0/8600 19/4406 - - - - - - -
?/? c.1885G>A r.(?) p.(Val629Ile) g.112900135G>A Copied from the Exome Variant Server AKAP2_000103 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1931C>A r.(?) p.(Thr644Lys) g.112900181C>A Copied from the Exome Variant Server AKAP2_000105 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1949T>C r.(?) p.(Leu650Ser) g.112900199T>C Copied from the Exome Variant Server AKAP2_000106 6509/13006 3976/8600 2533/4406 - - - - - - -
?/? c.1979G>A r.(?) p.(Gly660Asp) g.112900229G>A Copied from the Exome Variant Server AKAP2_000108 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2016C>T r.(=) p.(=) g.112900266C>T Copied from the Exome Variant Server AKAP2_000111 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2055T>A r.(?) p.(Asp685Glu) g.112900305T>A Copied from the Exome Variant Server AKAP2_000114 1/13006 1/8600 0/4406 - - - - - - -
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