Full data view for gene GSKIP

Information The variants shown are described using the NM_016472.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.-1-18_-1-17del r.(=) p.(=) g.96848566_96848567del Copied from the Exome Variant Server GSKIP_000001 224/12296 156/8164 68/4132 - - - - - - -
?/? c.-1-17del r.(=) p.(=) g.96848567del Copied from the Exome Variant Server GSKIP_000003 2949/12296 2046/8164 903/4132 - - - - - - -
?/? c.-1-17dup r.(=) p.(=) g.96848567dup Copied from the Exome Variant Server GSKIP_000002 975/12296 543/8164 432/4132 - - - - - - -
?/? c.3G>A r.? p.? g.96848587G>A Copied from the Exome Variant Server GSKIP_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.4_5insA r.(?) p.(Thr3Asnfs*4) g.96848588_96848589insA Copied from the Exome Variant Server GSKIP_000005 2/12516 1/8252 1/4264 - - - - - - -
?/? c.51A>G r.(=) p.(=) g.96848635A>G Copied from the Exome Variant Server GSKIP_000006 16/13006 15/8600 1/4406 - - - - - - -
?/? c.85G>T r.(?) p.(Asp29Tyr) g.96848669G>T Copied from the Exome Variant Server GSKIP_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.123A>G r.(=) p.(=) g.96848707A>G Copied from the Exome Variant Server GSKIP_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.173G>A r.(?) p.(Arg58Gln) g.96848757G>A Copied from the Exome Variant Server GSKIP_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.255C>G r.(=) p.(=) g.96848839C>G Copied from the Exome Variant Server GSKIP_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.258+41C>A r.(=) p.(=) g.96848883C>A Copied from the Exome Variant Server GSKIP_000011 1/13002 0/8600 1/4402 - - - - - - -
?/? c.259-42A>G r.(=) p.(=) g.96851818A>G Copied from the Exome Variant Server GSKIP_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.300G>A r.(=) p.(=) g.96851901G>A Copied from the Exome Variant Server GSKIP_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.302C>T r.(?) p.(Thr101Ile) g.96851903C>T Copied from the Exome Variant Server GSKIP_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.328T>C r.(=) p.(=) g.96851929T>C Copied from the Exome Variant Server GSKIP_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.409G>A r.(?) p.(Gly137Arg) g.96852010G>A Copied from the Exome Variant Server GSKIP_000016 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*24G>A r.(=) p.(=) g.96852045G>A Copied from the Exome Variant Server GSKIP_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*50T>C r.(=) p.(=) g.96852071T>C Copied from the Exome Variant Server GSKIP_000018 4550/13002 3760/8598 790/4404 - - - - - - -
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