Unique variants in gene CD52

Information The variants shown are described using the NM_001803.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-64C>T r.(=) p.(=) g.26644445C>T Copied from the Exome Variant Server CD52_000009 2/4566 0/3182 2/1384
1 c.-44A>G r.(=) p.(=) g.26644465A>G Copied from the Exome Variant Server CD52_000001 1/13006 0/8600 1/4406
1 c.7C>T r.(?) p.(Arg3Cys) g.26644515C>T Copied from the Exome Variant Server CD52_000002 4/13006 0/8600 4/4406
1 c.29C>A r.(?) p.(Thr10Asn) g.26644537C>A Copied from the Exome Variant Server CD52_000003 58/13006 33/8600 25/4406
1 c.43G>C r.(=) p.(=) g.26644551G>C Copied from the Exome Variant Server CD52_000004 1/13006 0/8600 1/4406
1 c.54+6A>G r.(=) p.(=) g.26644568A>G Copied from the Exome Variant Server CD52_000005 1/13006 1/8600 0/4406
1 c.54+11C>T r.(=) p.(=) g.26644573C>T Copied from the Exome Variant Server CD52_000006 1/13006 0/8600 1/4406
1 c.54+35C>T r.(=) p.(=) g.26644597C>T Copied from the Exome Variant Server CD52_000007 1/13006 1/8600 0/4406
1 c.54+51A>G r.(=) p.(=) g.26644613A>G Copied from the Exome Variant Server CD52_000008 2/13006 2/8600 0/4406
1 c.55-22T>C r.(=) p.(=) g.26646640T>C Copied from the Exome Variant Server CD52_000010 2/13006 0/8600 2/4406
1 c.55-12_55-10del r.(=) p.(=) g.26646650_26646652del Copied from the Exome Variant Server CD52_000011 18/12520 1/8254 17/4266
1 c.74G>A r.(?) p.(Gly25Glu) g.26646681G>A Copied from the Exome Variant Server CD52_000012 6/13006 0/8600 6/4406
1 c.119A>G r.(?) p.(Asn40Ser) g.26646726A>G Copied from the Exome Variant Server CD52_000013 9521/13006 6583/8600 2938/4406
1 c.123A>G r.(?) p.(Ile41Met) g.26646730A>G Copied from the Exome Variant Server CD52_000014 9521/13006 6583/8600 2938/4406
1 c.127G>A r.(?) p.(Gly43Arg) g.26646734G>A Copied from the Exome Variant Server CD52_000015 1/13006 1/8600 0/4406
1 c.148G>A r.(?) p.(Val50Met) g.26646755G>A Copied from the Exome Variant Server CD52_000016 2/13006 1/8600 1/4406
1 c.176G>A r.(?) p.(Cys59Tyr) g.26646783G>A Copied from the Exome Variant Server CD52_000017 2/13006 2/8600 0/4406
1 c.*7A>G r.(=) p.(=) g.26646800A>G Copied from the Exome Variant Server CD52_000018 1/13006 1/8600 0/4406
1 c.*48C>A r.(=) p.(=) g.26646841C>A Copied from the Exome Variant Server CD52_000019 1/13006 0/8600 1/4406
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