Full data view for gene OCSTAMP

Information The variants shown are described using the NM_080721.1 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.3G>A r.? p.? g.45179197C>T Copied from the Exome Variant Server OCSTAMP_000025 4/4566 4/3182 0/1384 - - - - - - -
?/? c.36C>T r.(=) p.(=) g.45179164G>A Copied from the Exome Variant Server OCSTAMP_000024 2/4566 2/3182 0/1384 - - - - - - -
?/? c.42C>T r.(=) p.(=) g.45179158G>A Copied from the Exome Variant Server OCSTAMP_000023 1/4566 1/3182 0/1384 - - - - - - -
?/? c.44+55T>C r.(=) p.(=) g.45179101A>G Copied from the Exome Variant Server OCSTAMP_000022 4/4566 0/3182 4/1384 - - - - - - -
?/? c.44+78A>G r.(=) p.(=) g.45179078T>C Copied from the Exome Variant Server OCSTAMP_000021 1/4566 0/3182 1/1384 - - - - - - -
?/? c.45-22C>G r.(=) p.(=) g.45174990G>C Copied from the Exome Variant Server OCSTAMP_000020 181/4558 2/3178 179/1380 - - - - - - -
?/? c.186_188del r.(?) p.(Ala63del) g.45174825_45174827del Copied from the Exome Variant Server OCSTAMP_000019 35/10056 18/6646 17/3410 - - - - - - -
?/? c.212C>T r.(?) p.(Ala71Val) g.45174801G>A Copied from the Exome Variant Server OCSTAMP_000018 1/4566 0/3182 1/1384 - - - - - - -
?/? c.307C>T r.(?) p.(Arg103Cys) g.45174706G>A Copied from the Exome Variant Server OCSTAMP_000017 1/4566 0/3182 1/1384 - - - - - - -
?/? c.328G>A r.(?) p.(Val110Met) g.45174685C>T Copied from the Exome Variant Server OCSTAMP_000016 1/4566 0/3182 1/1384 - - - - - - -
?/? c.381T>C r.(=) p.(=) g.45174632A>G Copied from the Exome Variant Server OCSTAMP_000015 49/4566 45/3182 4/1384 - - - - - - -
?/? c.382G>A r.(?) p.(Ala128Thr) g.45174631C>T Copied from the Exome Variant Server OCSTAMP_000014 1/4566 0/3182 1/1384 - - - - - - -
?/? c.612T>G r.(=) p.(=) g.45174401A>C Copied from the Exome Variant Server OCSTAMP_000013 13/4566 1/3182 12/1384 - - - - - - -
?/? c.675C>T r.(=) p.(=) g.45174338G>A Copied from the Exome Variant Server OCSTAMP_000012 1/4566 1/3182 0/1384 - - - - - - -
?/? c.723G>A r.(=) p.(=) g.45174290C>T Copied from the Exome Variant Server OCSTAMP_000011 16/4566 0/3182 16/1384 - - - - - - -
?/? c.735C>A r.(=) p.(=) g.45174278G>T Copied from the Exome Variant Server OCSTAMP_000010 2/4566 2/3182 0/1384 - - - - - - -
?/? c.761_762del r.(?) p.(Phe254*) g.45174251_45174252del Copied from the Exome Variant Server OCSTAMP_000009 15/8414 9/5332 6/3082 - - - - - - -
?/? c.775G>A r.(?) p.(Ala259Thr) g.45174238C>T Copied from the Exome Variant Server OCSTAMP_000008 2/4566 2/3182 0/1384 - - - - - - -
?/? c.796C>T r.(?) p.(Arg266Trp) g.45174217G>A Copied from the Exome Variant Server OCSTAMP_000007 1/4566 0/3182 1/1384 - - - - - - -
?/? c.987T>G r.(=) p.(=) g.45174026A>C Copied from the Exome Variant Server OCSTAMP_000006 973/4566 358/3182 615/1384 - - - - - - -
?/? c.1361A>G r.(?) p.(Asp454Gly) g.45170253T>C Copied from the Exome Variant Server OCSTAMP_000005 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1423G>T r.(?) p.(Ala475Ser) g.45170191C>A Copied from the Exome Variant Server OCSTAMP_000004 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1545G>A r.(=) p.(=) g.45170069C>T Copied from the Exome Variant Server OCSTAMP_000003 27/4566 1/3182 26/1384 - - - - - - -
?/? c.1657G>A r.(?) p.(Val553Met) g.45169957C>T Copied from the Exome Variant Server OCSTAMP_000002 18/4566 16/3182 2/1384 - - - - - - -
?/? c.1693C>T r.(?) p.(Pro565Ser) g.45169921G>A Copied from the Exome Variant Server OCSTAMP_000001 16/4566 0/3182 16/1384 - - - - - - -
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