Full data view for gene RIBC1

Information The variants shown are described using the NM_144968.2 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.1-44G>T r.(=) p.(=) g.53453181G>T Copied from the Exome Variant Server RIBC1_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1-24C>T r.(=) p.(=) g.53453201C>T Copied from the Exome Variant Server RIBC1_000002 2589/10563 63/6728 2526/3835 - - - - - - -
?/? c.48C>T r.(=) p.(=) g.53453272C>T Copied from the Exome Variant Server RIBC1_000003 15/10563 9/6728 6/3835 - - - - - - -
?/? c.111C>T r.(=) p.(=) g.53453335C>T Copied from the Exome Variant Server RIBC1_000004 1/10561 1/6726 0/3835 - - - - - - -
?/? c.117+27C>T r.(=) p.(=) g.53453368C>T Copied from the Exome Variant Server RIBC1_000005 32/10554 29/6719 3/3835 - - - - - - -
?/? c.130G>A r.(?) p.(Ala44Thr) g.53454963G>A Copied from the Exome Variant Server RIBC1_000006 1/10562 1/6727 0/3835 - - - - - - -
?/? c.155G>A r.(?) p.(Arg52Gln) g.53454988G>A Copied from the Exome Variant Server RIBC1_000007 1/10562 1/6727 0/3835 - - - - - - -
?/? c.162T>C r.(=) p.(=) g.53454995T>C Copied from the Exome Variant Server RIBC1_000008 1/10562 0/6727 1/3835 - - - - - - -
?/? c.171A>G r.(=) p.(=) g.53455004A>G Copied from the Exome Variant Server RIBC1_000009 1/10562 1/6727 0/3835 - - - - - - -
?/? c.199+38A>G r.(=) p.(=) g.53455070A>G Copied from the Exome Variant Server RIBC1_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.265C>T r.(?) p.(Arg89Cys) g.53455296C>T Copied from the Exome Variant Server RIBC1_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.322G>A r.(?) p.(Gly108Arg) g.53455353G>A Copied from the Exome Variant Server RIBC1_000012 4/10563 0/6728 4/3835 - - - - - - -
?/? c.555C>T r.(=) p.(=) g.53455586C>T Copied from the Exome Variant Server RIBC1_000013 8/10563 0/6728 8/3835 - - - - - - -
?/? c.*1172G>A r.(=) p.(=) g.53456782G>A Copied from the Exome Variant Server RIBC1_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*1196G>A r.(=) p.(=) g.53456806G>A Copied from the Exome Variant Server RIBC1_000015 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*1795C>T r.(=) p.(=) g.53457405C>T Copied from the Exome Variant Server RIBC1_000016 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*1796G>A r.(=) p.(=) g.53457406G>A Copied from the Exome Variant Server RIBC1_000017 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*1802C>G r.(=) p.(=) g.53457412C>G Copied from the Exome Variant Server RIBC1_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*1873G>A r.(=) p.(=) g.53457483G>A Copied from the Exome Variant Server RIBC1_000019 1/10562 0/6727 1/3835 - - - - - - -
?/? c.*1885A>T r.(=) p.(=) g.53457495A>T Copied from the Exome Variant Server RIBC1_000020 1/10562 1/6727 0/3835 - - - - - - -
?/? c.*1943A>G r.(=) p.(=) g.53457553A>G Copied from the Exome Variant Server RIBC1_000021 2/10563 2/6728 0/3835 - - - - - - -
?/? c.*1947C>T r.(=) p.(=) g.53457557C>T Copied from the Exome Variant Server RIBC1_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*1955G>C r.(=) p.(=) g.53457565G>C Copied from the Exome Variant Server RIBC1_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*1967C>T r.(=) p.(=) g.53457577C>T Copied from the Exome Variant Server RIBC1_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*1968C>T r.(=) p.(=) g.53457578C>T Copied from the Exome Variant Server RIBC1_000025 3/10563 2/6728 1/3835 - - - - - - -
?/? c.*1971C>G r.(=) p.(=) g.53457581C>G Copied from the Exome Variant Server RIBC1_000026 1/10561 0/6727 1/3834 - - - - - - -
?/? c.*2012T>C r.(=) p.(=) g.53457622T>C Copied from the Exome Variant Server RIBC1_000027 4743/10563 3950/6728 793/3835 - - - - - - -
?/? c.*2017G>A r.(=) p.(=) g.53457627G>A Copied from the Exome Variant Server RIBC1_000028 2/10563 1/6728 1/3835 - - - - - - -
?/? c.*2063G>T r.(=) p.(=) g.53457673G>T Copied from the Exome Variant Server RIBC1_000029 2/10563 2/6728 0/3835 - - - - - - -
?/? c.*2068C>T r.(=) p.(=) g.53457678C>T Copied from the Exome Variant Server RIBC1_000030 1/10561 1/6726 0/3835 - - - - - - -
?/? c.*2109G>A r.(=) p.(=) g.53457719G>A Copied from the Exome Variant Server RIBC1_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*2281A>G r.(=) p.(=) g.53457891A>G Copied from the Exome Variant Server RIBC1_000032 4/10563 0/6728 4/3835 - - - - - - -
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