Full data view for gene CXorf56

Information The variants shown are described using the NM_022101.3 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-24G>C r.(=) p.(=) g.118699342C>G Copied from the Exome Variant Server CXorf56_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-11T>A r.(=) p.(=) g.118699329A>T Copied from the Exome Variant Server CXorf56_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-10C>T r.(=) p.(=) g.118699328G>A Copied from the Exome Variant Server CXorf56_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-2T>C r.(=) p.(=) g.118699320A>G Copied from the Exome Variant Server CXorf56_000027 9518/10563 5772/6728 3746/3835 - - - - - - -
?/? c.125-7C>T r.(=) p.(=) g.118694355G>A Copied from the Exome Variant Server CXorf56_000026 2/10563 2/6728 0/3835 - - - - - - -
?/? c.163C>T r.(?) p.(Arg55Trp) g.118694310G>A Copied from the Exome Variant Server CXorf56_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.170G>A r.(?) p.(Arg57His) g.118694303C>T Copied from the Exome Variant Server CXorf56_000024 1/10561 1/6726 0/3835 - - - - - - -
?/? c.229A>G r.(?) p.(Met77Val) g.118694244T>C Copied from the Exome Variant Server CXorf56_000023 2/10563 2/6728 0/3835 - - - - - - -
?/? c.231G>T r.(?) p.(Met77Ile) g.118694242C>A Copied from the Exome Variant Server CXorf56_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.242+3A>G r.spl? p.? g.118694228T>C Copied from the Exome Variant Server CXorf56_000021 3/10563 2/6728 1/3835 - - - - - - -
?/? c.242+33C>T r.(=) p.(=) g.118694198G>A Copied from the Exome Variant Server CXorf56_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.242+44G>A r.(=) p.(=) g.118694187C>T Copied from the Exome Variant Server CXorf56_000019 132/10563 0/6728 132/3835 - - - - - - -
?/? c.243-37T>G r.(=) p.(=) g.118679504A>C Copied from the Exome Variant Server CXorf56_000018 9/10563 5/6728 4/3835 - - - - - - -
?/? c.284+29A>G r.(=) p.(=) g.118679397T>C Copied from the Exome Variant Server CXorf56_000017 2/10563 0/6728 2/3835 - - - - - - -
?/? c.284+38A>G r.(=) p.(=) g.118679388T>C Copied from the Exome Variant Server CXorf56_000016 4/10563 0/6728 4/3835 - - - - - - -
?/? c.284+48A>G r.(=) p.(=) g.118679378T>C Copied from the Exome Variant Server CXorf56_000015 2/10563 2/6728 0/3835 - - - - - - -
?/? c.285-36T>C r.(=) p.(=) g.118678490A>G Copied from the Exome Variant Server CXorf56_000014 3/10563 3/6728 0/3835 - - - - - - -
?/? c.375C>T r.(=) p.(=) g.118678364G>A Copied from the Exome Variant Server CXorf56_000013 6057/10563 4235/6728 1822/3835 - - - - - - -
?/? c.424-57G>A r.(=) p.(=) g.118676614C>T Copied from the Exome Variant Server CXorf56_000012 1/3600 0/2391 1/1209 - - - - - - -
?/? c.424-31C>T r.(=) p.(=) g.118676588G>A Copied from the Exome Variant Server CXorf56_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.424-30G>A r.(=) p.(=) g.118676587C>T Copied from the Exome Variant Server CXorf56_000010 3/10563 3/6728 0/3835 - - - - - - -
?/? c.424-17_424-15del r.(=) p.(=) g.118676572_118676574del Copied from the Exome Variant Server CXorf56_000009 1/10204 0/6483 1/3721 - - - - - - -
?/? c.424-8C>T r.(=) p.(=) g.118676565G>A Copied from the Exome Variant Server CXorf56_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.513+4A>G r.spl? p.? g.118676464T>C Copied from the Exome Variant Server CXorf56_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.513+48C>T r.(=) p.(=) g.118676420G>A Copied from the Exome Variant Server CXorf56_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.514-9T>C r.(=) p.(=) g.118675392A>G Copied from the Exome Variant Server CXorf56_000005 2/10563 0/6728 2/3835 - - - - - - -
?/? c.565C>T r.(=) p.(=) g.118675332G>A Copied from the Exome Variant Server CXorf56_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.607-63G>C r.(=) p.(=) g.118673815C>G Copied from the Exome Variant Server CXorf56_000003 1/3600 1/2391 0/1209 - - - - - - -
?/? c.*16A>G r.(=) p.(=) g.118673674T>C Copied from the Exome Variant Server CXorf56_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*42G>T r.(=) p.(=) g.118673648C>A Copied from the Exome Variant Server CXorf56_000001 1/10563 1/6728 0/3835 - - - - - - -
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