All transcript variants in gene AKAP4

Information The variants shown are described using the NM_003886.2 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-62G>T r.(=) p.(=) g.49965602C>A Copied from the Exome Variant Server AKAP4_000077 22/3600 0/2391 22/1209
?/? c.-43A>G r.(=) p.(=) g.49965583T>C Copied from the Exome Variant Server AKAP4_000076 421/10563 3/6728 418/3835
?/? c.27+36G>C r.(=) p.(=) g.49965478C>G Copied from the Exome Variant Server AKAP4_000074 4/10563 3/6728 1/3835
?/? c.28-7T>G r.(=) p.(=) g.49963410A>C Copied from the Exome Variant Server AKAP4_000075 3/10563 0/6728 3/3835
?/? c.52C>T r.(?) p.(Arg18Cys) g.49963379G>A Copied from the Exome Variant Server AKAP4_000073 1/10563 0/6728 1/3835
?/? c.108T>C r.(=) p.(=) g.49963323A>G Copied from the Exome Variant Server AKAP4_000072 10/10563 10/6728 0/3835
?/? c.124-48C>A r.(=) p.(=) g.49962293G>T Copied from the Exome Variant Server AKAP4_000071 688/10563 6/6728 682/3835
?/? c.124-35A>T r.(=) p.(=) g.49962280T>A Copied from the Exome Variant Server AKAP4_000070 1/10563 1/6728 0/3835
?/? c.140T>C r.(?) p.(Val47Ala) g.49962229A>G Copied from the Exome Variant Server AKAP4_000069 3/10563 0/6728 3/3835
?/? c.174+4C>T r.spl? p.? g.49962191G>A Copied from the Exome Variant Server AKAP4_000068 7/10563 0/6728 7/3835
?/? c.174+29C>T r.(=) p.(=) g.49962166G>A Copied from the Exome Variant Server AKAP4_000067 1/10563 1/6728 0/3835
?/? c.174+48A>G r.(=) p.(=) g.49962147T>C Copied from the Exome Variant Server AKAP4_000066 1/10563 1/6728 0/3835
?/? c.174+71A>G r.(=) p.(=) g.49962124T>C Copied from the Exome Variant Server AKAP4_000065 229/3600 216/2391 13/1209
?/? c.175-32C>T r.(=) p.(=) g.49961675G>A Copied from the Exome Variant Server AKAP4_000064 6/10563 0/6728 6/3835
?/? c.175-4A>G r.spl? p.? g.49961647T>C Copied from the Exome Variant Server AKAP4_000063 5/10563 5/6728 0/3835
?/? c.175-3T>C r.spl? p.? g.49961646A>G Copied from the Exome Variant Server AKAP4_000062 1/10563 0/6728 1/3835
?/? c.190A>T r.(?) p.(Ser64Cys) g.49961628T>A Copied from the Exome Variant Server AKAP4_000061 7/10563 5/6728 2/3835
?/? c.235A>T r.(?) p.(Ile79Phe) g.49961583T>A Copied from the Exome Variant Server AKAP4_000060 1/10563 1/6728 0/3835
?/? c.276+8T>C r.(=) p.(=) g.49961534A>G Copied from the Exome Variant Server AKAP4_000057 1/10563 0/6728 1/3835
?/? c.276+48A>G r.(=) p.(=) g.49961494T>C Copied from the Exome Variant Server AKAP4_000056 2/10563 2/6728 0/3835
?/? c.280G>C r.(?) p.(Glu94Gln) g.49959084C>G Copied from the Exome Variant Server AKAP4_000054 5/10563 3/6728 2/3835
?/? c.302A>G r.(?) p.(Lys101Arg) g.49959062T>C Copied from the Exome Variant Server AKAP4_000052 1/10563 1/6728 0/3835
?/? c.319C>T r.(?) p.(Pro107Ser) g.49959045G>A Copied from the Exome Variant Server AKAP4_000050 1/10563 1/6728 0/3835
?/? c.481G>A r.(?) p.(Asp161Asn) g.49958883C>T Copied from the Exome Variant Server AKAP4_000048 12/10563 0/6728 12/3835
?/? c.529C>T r.(=) p.(=) g.49958835G>A Copied from the Exome Variant Server AKAP4_000046 1/10563 0/6728 1/3835
?/? c.698A>G r.(?) p.(His233Arg) g.49958666T>C Copied from the Exome Variant Server AKAP4_000043 28/10563 1/6728 27/3835
?/? c.800C>T r.(?) p.(Ala267Val) g.49958564G>A Copied from the Exome Variant Server AKAP4_000041 3/10563 2/6728 1/3835
?/? c.809T>C r.(?) p.(Ile270Thr) g.49958555A>G Copied from the Exome Variant Server AKAP4_000059 4/10563 3/6728 1/3835
?/? c.887G>A r.(?) p.(Gly296Asp) g.49958477C>T Copied from the Exome Variant Server AKAP4_000058 46/10563 42/6728 4/3835
?/? c.906A>G r.(=) p.(=) g.49958458T>C Copied from the Exome Variant Server AKAP4_000055 1/10563 1/6728 0/3835
?/? c.997C>G r.(?) p.(Leu333Val) g.49958367G>C Copied from the Exome Variant Server AKAP4_000053 1/10563 1/6728 0/3835
?/? c.1023A>G r.(=) p.(=) g.49958341T>C Copied from the Exome Variant Server AKAP4_000051 1/10563 1/6728 0/3835
?/? c.1140C>T r.(=) p.(=) g.49958224G>A Copied from the Exome Variant Server AKAP4_000049 2/10563 0/6728 2/3835
?/? c.1158C>T r.(=) p.(=) g.49958206G>A Copied from the Exome Variant Server AKAP4_000047 28/10563 1/6728 27/3835
?/? c.1268T>C r.(?) p.(Met423Thr) g.49958096A>G Copied from the Exome Variant Server AKAP4_000045 2/10563 0/6728 2/3835
?/? c.1285C>T r.(?) p.(Arg429Cys) g.49958079G>A Copied from the Exome Variant Server AKAP4_000044 1/10563 0/6728 1/3835
?/? c.1286G>A r.(?) p.(Arg429His) g.49958078C>T Copied from the Exome Variant Server AKAP4_000042 1/10563 0/6728 1/3835
?/? c.1322C>T r.(?) p.(Thr441Ile) g.49958042G>A Copied from the Exome Variant Server AKAP4_000040 1/10563 0/6728 1/3835
?/? c.1323T>A r.(=) p.(=) g.49958041A>T Copied from the Exome Variant Server AKAP4_000039 1/10563 1/6728 0/3835
?/? c.1395T>C r.(=) p.(=) g.49957969A>G Copied from the Exome Variant Server AKAP4_000038 1/10563 0/6728 1/3835
?/? c.1419A>G r.(=) p.(=) g.49957945T>C Copied from the Exome Variant Server AKAP4_000037 1/10563 1/6728 0/3835
?/? c.1472C>T r.(?) p.(Thr491Ile) g.49957892G>A Copied from the Exome Variant Server AKAP4_000036 2/10563 2/6728 0/3835
?/? c.1509G>C r.(?) p.(Glu503Asp) g.49957855C>G Copied from the Exome Variant Server AKAP4_000035 12/10563 0/6728 12/3835
?/? c.1596G>A r.(=) p.(=) g.49957768C>T Copied from the Exome Variant Server AKAP4_000034 28/10563 25/6728 3/3835
?/? c.1634T>G r.(?) p.(Ile545Ser) g.49957730A>C Copied from the Exome Variant Server AKAP4_000033 2/10563 0/6728 2/3835
?/? c.1649A>C r.(?) p.(Lys550Thr) g.49957715T>G Copied from the Exome Variant Server AKAP4_000032 5/10563 5/6728 0/3835
?/? c.1658A>G r.(?) p.(Gln553Arg) g.49957706T>C Copied from the Exome Variant Server AKAP4_000031 35/10563 0/6728 35/3835
?/? c.1696T>C r.(?) p.(Cys566Arg) g.49957668A>G Copied from the Exome Variant Server AKAP4_000030 1/10563 1/6728 0/3835
?/? c.1792G>A r.(?) p.(Val598Met) g.49957572C>T Copied from the Exome Variant Server AKAP4_000029 1/10563 0/6728 1/3835
?/? c.1823G>A r.(?) p.(Gly608Glu) g.49957541C>T Copied from the Exome Variant Server AKAP4_000028 1/10563 0/6728 1/3835
?/? c.1841A>G r.(?) p.(Lys614Arg) g.49957523T>C Copied from the Exome Variant Server AKAP4_000027 2/10563 0/6728 2/3835
?/? c.1888G>A r.(?) p.(Val630Ile) g.49957476C>T Copied from the Exome Variant Server AKAP4_000026 1/10563 1/6728 0/3835
?/? c.1945T>C r.(?) p.(Cys649Arg) g.49957419A>G Copied from the Exome Variant Server AKAP4_000025 1/10563 1/6728 0/3835
?/? c.1991C>T r.(?) p.(Ala664Val) g.49957373G>A Copied from the Exome Variant Server AKAP4_000024 1/10563 0/6728 1/3835
?/? c.2018C>G r.(?) p.(Ala673Gly) g.49957346G>C Copied from the Exome Variant Server AKAP4_000023 761/10563 3/6728 758/3835
?/? c.2025A>T r.(?) p.(Glu675Asp) g.49957339T>A Copied from the Exome Variant Server AKAP4_000022 1/10563 0/6728 1/3835
?/? c.2039A>G r.(?) p.(His680Arg) g.49957325T>C Copied from the Exome Variant Server AKAP4_000021 2/10563 0/6728 2/3835
?/? c.2099T>C r.(?) p.(Leu700Pro) g.49957265A>G Copied from the Exome Variant Server AKAP4_000020 1/10563 0/6728 1/3835
?/? c.2148C>T r.(=) p.(=) g.49957216G>A Copied from the Exome Variant Server AKAP4_000019 421/10563 2/6728 419/3835
?/? c.2156C>A r.(?) p.(Ala719Glu) g.49957208G>T Copied from the Exome Variant Server AKAP4_000018 3/10563 0/6728 3/3835
?/? c.2190G>A r.(=) p.(=) g.49957174C>T Copied from the Exome Variant Server AKAP4_000017 1/10563 1/6728 0/3835
?/? c.2250C>T r.(=) p.(=) g.49957114G>A Copied from the Exome Variant Server AKAP4_000016 1/10563 1/6728 0/3835
?/? c.2270A>G r.(?) p.(His757Arg) g.49957094T>C Copied from the Exome Variant Server AKAP4_000015 2/10563 0/6728 2/3835
?/? c.2292G>C r.(?) p.(Gln764His) g.49957072C>G Copied from the Exome Variant Server AKAP4_000014 1/10563 1/6728 0/3835
?/? c.2377T>C r.(?) p.(Phe793Leu) g.49956987A>G Copied from the Exome Variant Server AKAP4_000013 1/10563 1/6728 0/3835
?/? c.2409+18G>A r.(=) p.(=) g.49956937C>T Copied from the Exome Variant Server AKAP4_000012 303/10561 0/6726 303/3835
?/? c.2409+24G>A r.(=) p.(=) g.49956931C>T Copied from the Exome Variant Server AKAP4_000011 105/10560 1/6725 104/3835
?/? c.2410-25C>A r.(=) p.(=) g.49955783G>T Copied from the Exome Variant Server AKAP4_000010 292/10563 0/6728 292/3835
?/? c.2410-15_2410-14del r.(=) p.(=) g.49955772_49955773del Copied from the Exome Variant Server AKAP4_000009 2/10205 0/6484 2/3721
?/? c.2410-7C>G r.(=) p.(=) g.49955765G>C Copied from the Exome Variant Server AKAP4_000008 1/10563 0/6728 1/3835
?/? c.2439G>A r.(=) p.(=) g.49955729C>T Copied from the Exome Variant Server AKAP4_000007 421/10563 2/6728 419/3835
?/? c.2494C>T r.(?) p.(Arg832Trp) g.49955674G>A Copied from the Exome Variant Server AKAP4_000006 1/10563 0/6728 1/3835
?/? c.2495G>A r.(?) p.(Arg832Gln) g.49955673C>T Copied from the Exome Variant Server AKAP4_000005 1/10563 1/6728 0/3835
?/? c.2542G>A r.(?) p.(Asp848Asn) g.49955626C>T Copied from the Exome Variant Server AKAP4_000004 4/10563 0/6728 4/3835
?/? c.2554G>A r.(?) p.(Ala852Thr) g.49955614C>T Copied from the Exome Variant Server AKAP4_000003 48/10563 0/6728 48/3835
?/? c.*33C>A r.(=) p.(=) g.49955570G>T Copied from the Exome Variant Server AKAP4_000002 2/10563 2/6728 0/3835
?/? c.*34del r.(=) p.(=) g.49955569del Copied from the Exome Variant Server AKAP4_000001 4/10205 0/6484 4/3721
Legend