Full data view for gene AP1S2

Information The variants shown are described using the NM_003916.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.1-33T>C r.(=) p.(=) g.15870680A>G Copied from the Exome Variant Server AP1S2_000009 2/10561 0/6726 2/3835 - - - - - - -
?/? c.66A>G r.(=) p.(=) g.15870582T>C Copied from the Exome Variant Server AP1S2_000007 2/10563 0/6728 2/3835 - - - - - - -
?/? c.111C>G r.(=) p.(=) g.15870537G>C Copied from the Exome Variant Server AP1S2_000005 1/10559 0/6724 1/3835 - - - - - - -
?/? c.112G>A r.(?) p.(Val38Ile) g.15870536C>T Copied from the Exome Variant Server AP1S2_000003 1/10559 1/6724 0/3835 - - - - - - -
?/? c.147T>G r.(=) p.(=) g.15870501A>C Copied from the Exome Variant Server AP1S2_000015 2/10563 2/6728 0/3835 - - - - - - -
?/? c.288T>C r.(=) p.(=) g.15864026A>G Copied from the Exome Variant Server AP1S2_000014 166/10559 5/6724 161/3835 - - - - - - -
?/? c.288+35A>G r.(=) p.(=) g.15863991T>C Copied from the Exome Variant Server AP1S2_000013 5/10551 0/6718 5/3833 - - - - - - -
?/? c.288+36T>C r.(=) p.(=) g.15863990A>G Copied from the Exome Variant Server AP1S2_000012 5/10551 0/6718 5/3833 - - - - - - -
?/? c.289-10del r.(=) p.(=) g.15863649del Copied from the Exome Variant Server AP1S2_000011 617/10018 397/6404 220/3614 - - - - - - -
?/? c.289-10dup r.(=) p.(=) g.15863649dup Copied from the Exome Variant Server AP1S2_000010 265/10018 181/6404 84/3614 - - - - - - -
?/? c.427-23A>G r.(=) p.(=) g.15845518T>C Copied from the Exome Variant Server AP1S2_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.463G>A r.(?) p.(Gly155Arg) g.15845459C>T Copied from the Exome Variant Server AP1S2_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*43T>C r.(=) p.(=) g.15845405A>G Copied from the Exome Variant Server AP1S2_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*46A>G r.(=) p.(=) g.15845402T>C Copied from the Exome Variant Server AP1S2_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*47G>A r.(=) p.(=) g.15845401C>T Copied from the Exome Variant Server AP1S2_000001 4/10563 0/6728 4/3835 - - - - - - -
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