All transcript variants in gene AKAP7

Information The variants shown are described using the NM_004842.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-59A>G r.(=) p.(=) g.131571649A>G Copied from the Exome Variant Server AKAP7_000015 22/4566 0/3182 22/1384
?/? c.-46G>A r.(=) p.(=) g.131571662G>A Copied from the Exome Variant Server AKAP7_000017 1/13006 0/8600 1/4406
?/? c.-45T>A r.(=) p.(=) g.131571663T>A Copied from the Exome Variant Server AKAP7_000019 197/13006 180/8600 17/4406
?/? c.-25A>G r.(=) p.(=) g.131571683A>G Copied from the Exome Variant Server AKAP7_000021 2/13006 0/8600 2/4406
?/? c.-20A>G r.(=) p.(=) g.131571688A>G Copied from the Exome Variant Server AKAP7_000001 113/13006 1/8600 112/4406
?/? c.-17C>A r.(=) p.(=) g.131571691C>A Copied from the Exome Variant Server AKAP7_000002 16/13006 15/8600 1/4406
?/? c.24T>C r.(=) p.(=) g.131571731T>C Copied from the Exome Variant Server AKAP7_000003 11/13006 0/8600 11/4406
?/? c.49+29C>T r.(=) p.(=) g.131571785C>T Copied from the Exome Variant Server AKAP7_000004 1/13006 1/8600 0/4406
?/? c.49+51C>T r.(=) p.(=) g.131571807C>T Copied from the Exome Variant Server AKAP7_000005 2/13006 2/8600 0/4406
?/? c.49+78_49+79insT r.(=) p.(=) g.131571834_131571835insT Copied from the Exome Variant Server AKAP7_000006 3/12510 1/8250 2/4260
?/? c.49+2436C>T r.(=) p.(=) g.131574192C>T Copied from the Exome Variant Server AKAP7_000007 3/13006 0/8600 3/4406
?/? c.49+2442C>A r.(=) p.(=) g.131574198C>A Copied from the Exome Variant Server AKAP7_000008 1/13006 1/8600 0/4406
?/? c.49+2474C>T r.(=) p.(=) g.131574230C>T Copied from the Exome Variant Server AKAP7_000009 1/13006 0/8600 1/4406
?/? c.49+2512C>T r.(=) p.(=) g.131574268C>T Copied from the Exome Variant Server AKAP7_000010 1/13006 1/8600 0/4406
?/? c.49+2531A>G r.(=) p.(=) g.131574287A>G Copied from the Exome Variant Server AKAP7_000011 1/13006 1/8600 0/4406
?/? c.60C>T r.(=) p.(=) g.131602680C>T Copied from the Exome Variant Server AKAP7_000012 1/13006 1/8600 0/4406
?/? c.78C>T r.(=) p.(=) g.131602698C>T Copied from the Exome Variant Server AKAP7_000013 2/13006 0/8600 2/4406
?/? c.117C>T r.(=) p.(=) g.131602737C>T Copied from the Exome Variant Server AKAP7_000014 1/13006 0/8600 1/4406
?/? c.122T>C r.(?) p.(Val41Ala) g.131602742T>C Copied from the Exome Variant Server AKAP7_000016 1/13006 1/8600 0/4406
?/? c.172C>G r.(?) p.(Pro58Ala) g.131602792C>G Copied from the Exome Variant Server AKAP7_000018 1/13006 1/8600 0/4406
?/? c.178G>A r.(?) p.(Glu60Lys) g.131602798G>A Copied from the Exome Variant Server AKAP7_000020 3/13006 1/8600 2/4406
?/? c.180G>A r.(=) p.(=) g.131602800G>A Copied from the Exome Variant Server AKAP7_000022 3/13006 1/8600 2/4406
?/? c.198C>T r.(=) p.(=) g.131602818C>T Copied from the Exome Variant Server AKAP7_000023 2/13006 2/8600 0/4406
?/? c.199G>A r.(?) p.(Glu67Lys) g.131602819G>A Copied from the Exome Variant Server AKAP7_000024 30/13006 28/8600 2/4406
?/? c.211C>G r.(?) p.(Gln71Glu) g.131602831C>G Copied from the Exome Variant Server AKAP7_000025 2/13006 2/8600 0/4406
?/? c.234C>T r.(=) p.(=) g.131602854C>T Copied from the Exome Variant Server AKAP7_000026 3/13006 3/8600 0/4406
?/? c.*1_*9del r.(=) p.(=) g.131602867_131602875del Copied from the Exome Variant Server AKAP7_000027 1/12518 1/8254 0/4264
?/? c.*4C>T r.(=) p.(=) g.131602870C>T Copied from the Exome Variant Server AKAP7_000028 1/13006 0/8600 1/4406
?/? c.*9C>T r.(=) p.(=) g.131602875C>T Copied from the Exome Variant Server AKAP7_000029 1/13006 1/8600 0/4406
?/? c.*26C>T r.(=) p.(=) g.131602892C>T Copied from the Exome Variant Server AKAP7_000030 1/13006 0/8600 1/4406
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