Unique variants in gene AKAP14

Information The variants shown are described using the NM_178813.5 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.-10-40G>A r.(=) p.(=) g.119037137G>A Copied from the Exome Variant Server AKAP14_000001 1/10558 0/6723 1/3835
1 c.-10-37C>G r.(=) p.(=) g.119037140C>G Copied from the Exome Variant Server AKAP14_000002 1/10558 1/6723 0/3835
1 c.2T>C r.? p.? g.119037188T>C Copied from the Exome Variant Server AKAP14_000003 1/10563 1/6728 0/3835
1 c.37A>G r.(?) p.(Met13Val) g.119037223A>G Copied from the Exome Variant Server AKAP14_000004 1/10563 1/6728 0/3835
1 c.74C>T r.(?) p.(Pro25Leu) g.119037260C>T Copied from the Exome Variant Server AKAP14_000005 8/10563 0/6728 8/3835
1 c.111T>C r.(=) p.(=) g.119037297T>C Copied from the Exome Variant Server AKAP14_000006 9/10563 8/6728 1/3835
1 c.136G>C r.(?) p.(Asp46His) g.119037322G>C Copied from the Exome Variant Server AKAP14_000007 1/10563 1/6728 0/3835
1 c.169+5T>C r.spl? p.? g.119037360T>C Copied from the Exome Variant Server AKAP14_000008 1/10563 1/6728 0/3835
1 c.169+9C>A r.(=) p.(=) g.119037364C>A Copied from the Exome Variant Server AKAP14_000009 1/10563 1/6728 0/3835
1 c.169+14T>C r.(=) p.(=) g.119037369T>C Copied from the Exome Variant Server AKAP14_000010 1/10563 1/6728 0/3835
1 c.170-14C>G r.(=) p.(=) g.119037444C>G Copied from the Exome Variant Server AKAP14_000011 3/10563 3/6728 0/3835
1 c.170-12del r.(=) p.(=) g.119037446del Copied from the Exome Variant Server AKAP14_000013 48/10205 34/6484 14/3721
1 c.170-12dup r.(=) p.(=) g.119037446dup Copied from the Exome Variant Server AKAP14_000012 94/10205 2/6484 92/3721
1 c.199T>A r.(?) p.(Trp67Arg) g.119037487T>A Copied from the Exome Variant Server AKAP14_000014 1/10563 1/6728 0/3835
1 c.261+13G>A r.(=) p.(=) g.119037562G>A Copied from the Exome Variant Server AKAP14_000015 2/10563 2/6728 0/3835
1 c.261+46C>T r.(=) p.(=) g.119037595C>T Copied from the Exome Variant Server AKAP14_000016 1/10561 1/6728 0/3833
1 c.261+57_261+58del r.(=) p.(=) g.119037606_119037607del Copied from the Exome Variant Server AKAP14_000017 1/10198 0/6480 1/3718
1 c.262-4A>G r.spl? p.? g.119048658A>G Copied from the Exome Variant Server AKAP14_000018 1/10563 0/6728 1/3835
1 c.279A>G r.(=) p.(=) g.119048679A>G Copied from the Exome Variant Server AKAP14_000019 1/10563 0/6728 1/3835
1 c.362T>C r.(?) p.(Ile121Thr) g.119048762T>C Copied from the Exome Variant Server AKAP14_000020 1/10563 1/6728 0/3835
1 c.381C>T r.(=) p.(=) g.119048781C>T Copied from the Exome Variant Server AKAP14_000021 1/10563 1/6728 0/3835
1 c.382G>A r.(?) p.(Val128Ile) g.119048782G>A Copied from the Exome Variant Server AKAP14_000022 1/10563 0/6728 1/3835
1 c.383T>C r.(?) p.(Val128Ala) g.119048783T>C Copied from the Exome Variant Server AKAP14_000023 1/10563 1/6728 0/3835
1 c.386C>G r.(?) p.(Ala129Gly) g.119048786C>G Copied from the Exome Variant Server AKAP14_000024 88/10563 85/6728 3/3835
1 c.398C>T r.(?) p.(Ala133Val) g.119048798C>T Copied from the Exome Variant Server AKAP14_000025 1/10563 1/6728 0/3835
1 c.404C>A r.(?) p.(Thr135Asn) g.119048804C>A Copied from the Exome Variant Server AKAP14_000026 1/10563 0/6728 1/3835
1 c.440C>T r.(?) p.(Pro147Leu) g.119048840C>T Copied from the Exome Variant Server AKAP14_000027 9/10563 0/6728 9/3835
1 c.441+21C>T r.(=) p.(=) g.119048862C>T Copied from the Exome Variant Server AKAP14_000028 1/10563 0/6728 1/3835
1 c.442-7T>G r.(=) p.(=) g.119053867T>G Copied from the Exome Variant Server AKAP14_000029 3/10563 1/6728 2/3835
1 c.494+17G>A r.(=) p.(=) g.119053943G>A Copied from the Exome Variant Server AKAP14_000030 1/10563 0/6728 1/3835
1 c.494+37G>C r.(=) p.(=) g.119053963G>C Copied from the Exome Variant Server AKAP14_000031 3/10563 0/6728 3/3835
1 c.494+74G>A r.(=) p.(=) g.119054000G>A Copied from the Exome Variant Server AKAP14_000032 1/3600 0/2391 1/1209
1 c.494+75C>T r.(=) p.(=) g.119054001C>T Copied from the Exome Variant Server AKAP14_000033 801/3600 648/2391 153/1209
1 c.591C>G r.(=) p.(=) g.119054567C>G Copied from the Exome Variant Server AKAP14_000034 4/10563 0/6728 4/3835
1 c.*24G>A r.(=) p.(=) g.119054594G>A Copied from the Exome Variant Server AKAP14_000035 1/10563 1/6728 0/3835
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