Full data view for gene EBP

Information The variants shown are described using the NM_006579.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.-19G>A r.(=) p.(=) g.48382141G>A Copied from the Exome Variant Server EBP_000001 2/10549 2/6717 0/3832 - - - - - - -
?/? c.13G>A r.(?) p.(Ala5Thr) g.48382172G>A Copied from the Exome Variant Server EBP_000002 3/10562 3/6727 0/3835 - - - - - - -
?/? c.15G>T r.(=) p.(=) g.48382174G>T Copied from the Exome Variant Server EBP_000003 3092/10563 2306/6728 786/3835 - - - - - - -
?/? c.38C>G r.(?) p.(Pro13Arg) g.48382197C>G Copied from the Exome Variant Server EBP_000004 2/10563 2/6728 0/3835 - - - - - - -
?/? c.59A>C r.(?) p.(Asn20Thr) g.48382218A>C Copied from the Exome Variant Server EBP_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.184C>A r.(=) p.(=) g.48382343C>A Copied from the Exome Variant Server EBP_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.289T>C r.(=) p.(=) g.48382448T>C Copied from the Exome Variant Server EBP_000007 3/10563 3/6728 0/3835 - - - - - - -
?/? c.301+32A>T r.(=) p.(=) g.48382492A>T Copied from the Exome Variant Server EBP_000008 15/10563 12/6728 3/3835 - - - - - - -
?/? c.302-67C>A r.(=) p.(=) g.48385310C>A Copied from the Exome Variant Server EBP_000009 19/3600 0/2391 19/1209 - - - - - - -
?/? c.338+21A>G r.(=) p.(=) g.48385434A>G Copied from the Exome Variant Server EBP_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.338+44G>T r.(=) p.(=) g.48385457G>T Copied from the Exome Variant Server EBP_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.341G>T r.(?) p.(Gly114Val) g.48385545G>T Copied from the Exome Variant Server EBP_000012 5/10563 5/6728 0/3835 - - - - - - -
?/? c.360C>T r.(=) p.(=) g.48385564C>T Copied from the Exome Variant Server EBP_000013 1/10563 0/6728 1/3835 - - - - - - -
?/? c.382C>T r.(=) p.(=) g.48385586C>T Copied from the Exome Variant Server EBP_000014 29/10563 5/6728 24/3835 - - - - - - -
?/? c.415G>A r.(?) p.(Ala139Thr) g.48385619G>A Copied from the Exome Variant Server EBP_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.469+34T>C r.(=) p.(=) g.48385707T>C Copied from the Exome Variant Server EBP_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.469+39G>T r.(=) p.(=) g.48385712G>T Copied from the Exome Variant Server EBP_000017 19/10563 0/6728 19/3835 - - - - - - -
?/? c.511C>T r.(?) p.(Arg171Cys) g.48386663C>T Copied from the Exome Variant Server EBP_000018 7/10563 7/6728 0/3835 - - - - - - -
?/? c.512G>A r.(?) p.(Arg171His) g.48386664G>A Copied from the Exome Variant Server EBP_000019 6/10563 0/6728 6/3835 - - - - - - -
?/? c.513C>T r.(=) p.(=) g.48386665C>T Copied from the Exome Variant Server EBP_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.564C>T r.(=) p.(=) g.48386716C>T Copied from the Exome Variant Server EBP_000021 2/10563 1/6728 1/3835 - - - - - - -
?/? c.650C>T r.(?) p.(Thr217Met) g.48386802C>T Copied from the Exome Variant Server EBP_000022 5/10537 3/6707 2/3830 - - - - - - -
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