Full data view for gene SSX5

Information The variants shown are described using the NM_021015.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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.12C>T r.(=) p.(=) g.48054783G>A Copied from the Exome Variant Server SSX5_000062 1/10562 1/6727 0/3835 - - - - - - -
?/? c.13G>A r.(?) p.(Asp5Asn) g.48054782C>T Copied from the Exome Variant Server SSX5_000061 3/10562 0/6727 3/3835 - - - - - - -
?/? c.24A>T r.(=) p.(=) g.48054771T>A Copied from the Exome Variant Server SSX5_000060 1/10562 1/6727 0/3835 - - - - - - -
?/? c.25C>T r.(?) p.(Arg9Trp) g.48054770G>A Copied from the Exome Variant Server SSX5_000059 1/10562 1/6727 0/3835 - - - - - - -
?/? c.55G>C r.(?) p.(Glu19Gln) g.48054740C>G Copied from the Exome Variant Server SSX5_000058 9231/10562 6706/6727 2525/3835 - - - - - - -
?/? c.60G>T r.(?) p.(Lys20Asn) g.48054735C>A Copied from the Exome Variant Server SSX5_000057 13/10562 12/6727 1/3835 - - - - - - -
?/? c.69+10C>T r.(=) p.(=) g.48054716G>A Copied from the Exome Variant Server SSX5_000056 1/10562 1/6727 0/3835 - - - - - - -
?/? c.69+13G>A r.(=) p.(=) g.48054713C>T Copied from the Exome Variant Server SSX5_000055 1/10562 0/6727 1/3835 - - - - - - -
?/? c.69+14C>A r.(=) p.(=) g.48054712G>T Copied from the Exome Variant Server SSX5_000054 9/10562 0/6727 9/3835 - - - - - - -
?/? c.69+15A>T r.(=) p.(=) g.48054711T>A Copied from the Exome Variant Server SSX5_000053 7/10562 7/6727 0/3835 - - - - - - -
?/? c.70-51G>A r.(=) p.(=) g.48054616C>T Copied from the Exome Variant Server SSX5_000052 1/10562 0/6727 1/3835 - - - - - - -
?/? c.122C>T r.(?) p.(Pro41Leu) g.48054513G>A Copied from the Exome Variant Server SSX5_000051 1/10562 1/6727 0/3835 - - - - - - -
?/? c.123G>A r.(=) p.(=) g.48054512C>T Copied from the Exome Variant Server SSX5_000050 29/10562 1/6727 28/3835 - - - - - - -
?/? c.193-43T>G r.(=) p.(=) g.48054333A>C Copied from the Exome Variant Server SSX5_000049 1/10562 1/6727 0/3835 - - - - - - -
?/? c.193-36C>T r.(=) p.(=) g.48054326G>A Copied from the Exome Variant Server SSX5_000048 1/10561 0/6726 1/3835 - - - - - - -
?/? c.193-5del r.spl? p.? g.48054295del Copied from the Exome Variant Server SSX5_000046 1642/10203 1091/6482 551/3721 - - - - - - -
?/? c.193-5dup r.spl? p.? g.48054295dup Copied from the Exome Variant Server SSX5_000045 267/10203 170/6482 97/3721 - - - - - - -
?/? c.193-5T>C r.spl? p.? g.48054295A>G Copied from the Exome Variant Server SSX5_000047 16/10561 0/6726 16/3835 - - - - - - -
?/? c.193-1G>A r.spl? p.? g.48054291C>T Copied from the Exome Variant Server SSX5_000044 27/10561 0/6726 27/3835 - - - - - - -
?/? c.199G>C r.(?) p.(Asp67His) g.48054284C>G Copied from the Exome Variant Server SSX5_000043 1/10562 0/6727 1/3835 - - - - - - -
?/? c.214T>C r.(?) p.(Tyr72His) g.48054269A>G Copied from the Exome Variant Server SSX5_000042 1/10562 1/6727 0/3835 - - - - - - -
?/? c.240G>T r.(?) p.(Lys80Asn) g.48054243C>A Copied from the Exome Variant Server SSX5_000041 31/10562 0/6727 31/3835 - - - - - - -
?/? c.247G>T r.(?) p.(Ala83Ser) g.48054236C>A Copied from the Exome Variant Server SSX5_000039 1/10562 1/6727 0/3835 - - - - - - -
?/? c.248C>T r.(?) p.(Ala83Val) g.48054235G>A Copied from the Exome Variant Server SSX5_000037 1/10562 0/6727 1/3835 - - - - - - -
?/? c.252G>A r.(=) p.(=) g.48054231C>T Copied from the Exome Variant Server SSX5_000040 5/10562 5/6727 0/3835 - - - - - - -
?/? c.282A>G r.(=) p.(=) g.48054201T>C Copied from the Exome Variant Server SSX5_000038 1/10556 0/6721 1/3835 - - - - - - -
?/? c.307+43G>A r.(=) p.(=) g.48054133C>T Copied from the Exome Variant Server SSX5_000036 1/10562 1/6727 0/3835 - - - - - - -
?/? c.327A>C r.(=) p.(=) g.48053641T>G Copied from the Exome Variant Server SSX5_000035 28/10562 0/6727 28/3835 - - - - - - -
?/? c.335T>C r.(?) p.(Met112Thr) g.48053633A>G Copied from the Exome Variant Server SSX5_000034 1/10562 0/6727 1/3835 - - - - - - -
?/? c.337C>T r.(?) p.(Arg113Cys) g.48053631G>A Copied from the Exome Variant Server SSX5_000033 3/10562 3/6727 0/3835 - - - - - - -
?/? c.338G>A r.(?) p.(Arg113His) g.48053630C>T Copied from the Exome Variant Server SSX5_000032 2/10562 1/6727 1/3835 - - - - - - -
?/? c.347G>A r.(?) p.(Arg116Gln) g.48053621C>T Copied from the Exome Variant Server SSX5_000031 1/10562 0/6727 1/3835 - - - - - - -
?/? c.391C>T r.(?) p.(Arg131Cys) g.48053577G>A Copied from the Exome Variant Server SSX5_000030 1/10562 1/6727 0/3835 - - - - - - -
?/? c.403+44A>G r.(=) p.(=) g.48053521T>C Copied from the Exome Variant Server SSX5_000029 9260/10555 6698/6720 2562/3835 - - - - - - -
?/? c.450G>A r.(=) p.(=) g.48051671C>T Copied from the Exome Variant Server SSX5_000028 3/10562 2/6727 1/3835 - - - - - - -
?/? c.453+20A>G r.(=) p.(=) g.48051648T>C Copied from the Exome Variant Server SSX5_000027 1/10562 1/6727 0/3835 - - - - - - -
?/? c.453+36T>C r.(=) p.(=) g.48051632A>G Copied from the Exome Variant Server SSX5_000026 2/10562 2/6727 0/3835 - - - - - - -
?/? c.453+39G>A r.(=) p.(=) g.48051629C>T Copied from the Exome Variant Server SSX5_000025 21/10562 0/6727 21/3835 - - - - - - -
?/? c.453+48C>T r.(=) p.(=) g.48051620G>A Copied from the Exome Variant Server SSX5_000024 59/10562 0/6727 59/3835 - - - - - - -
?/? c.453+49G>A r.(=) p.(=) g.48051619C>T Copied from the Exome Variant Server SSX5_000023 1/10562 1/6727 0/3835 - - - - - - -
?/? c.454-48A>G r.(=) p.(=) g.48049752T>C Copied from the Exome Variant Server SSX5_000022 1/10562 0/6727 1/3835 - - - - - - -
?/? c.458C>T r.(?) p.(Thr153Met) g.48049700G>A Copied from the Exome Variant Server SSX5_000021 1/10562 0/6727 1/3835 - - - - - - -
?/? c.459G>C r.(=) p.(=) g.48049699C>G Copied from the Exome Variant Server SSX5_000020 12/10562 12/6727 0/3835 - - - - - - -
?/? c.463G>A r.(?) p.(Glu155Lys) g.48049695C>T Copied from the Exome Variant Server SSX5_000019 1/10562 1/6727 0/3835 - - - - - - -
?/? c.477G>A r.(=) p.(=) g.48049681C>T Copied from the Exome Variant Server SSX5_000018 1/10562 1/6727 0/3835 - - - - - - -
?/? c.492G>A r.(=) p.(=) g.48049666C>T Copied from the Exome Variant Server SSX5_000017 9440/10562 6721/6727 2719/3835 - - - - - - -
?/? c.508G>A r.(?) p.(Ala170Thr) g.48049650C>T Copied from the Exome Variant Server SSX5_000016 13/10562 0/6727 13/3835 - - - - - - -
?/? c.520C>A r.(?) p.(Gln174Lys) g.48049638G>T Copied from the Exome Variant Server SSX5_000015 1/10562 1/6727 0/3835 - - - - - - -
?/? c.524A>G r.(?) p.(Asn175Ser) g.48049634T>C Copied from the Exome Variant Server SSX5_000014 1/10562 1/6727 0/3835 - - - - - - -
?/? c.526A>G r.(?) p.(Asn176Asp) g.48049632T>C Copied from the Exome Variant Server SSX5_000013 28/10562 0/6727 28/3835 - - - - - - -
?/? c.535C>T r.(?) p.(Gln179*) g.48049623G>A Copied from the Exome Variant Server SSX5_000012 1/10562 1/6727 0/3835 - - - - - - -
?/? c.541C>T r.(?) p.(Arg181Cys) g.48049617G>A Copied from the Exome Variant Server SSX5_000011 28/10562 0/6727 28/3835 - - - - - - -
?/? c.542G>A r.(?) p.(Arg181His) g.48049616C>T Copied from the Exome Variant Server SSX5_000010 5/10562 0/6727 5/3835 - - - - - - -
?/? c.589+26C>A r.(=) p.(=) g.48049543G>T Copied from the Exome Variant Server SSX5_000009 2/10562 0/6727 2/3835 - - - - - - -
?/? c.589+27C>T r.(=) p.(=) g.48049542G>A Copied from the Exome Variant Server SSX5_000008 1/10562 0/6727 1/3835 - - - - - - -
?/? c.590-29C>T r.(=) p.(=) g.48047196G>A Copied from the Exome Variant Server SSX5_000007 5/10562 0/6727 5/3835 - - - - - - -
?/? c.625G>C r.(?) p.(Val209Leu) g.48047132C>G Copied from the Exome Variant Server SSX5_000006 47/10562 1/6727 46/3835 - - - - - - -
?/? c.628C>T r.(?) p.(Arg210Cys) g.48047129G>A Copied from the Exome Variant Server SSX5_000005 1/10562 1/6727 0/3835 - - - - - - -
?/? c.629G>A r.(?) p.(Arg210His) g.48047128C>T Copied from the Exome Variant Server SSX5_000004 1/10562 0/6727 1/3835 - - - - - - -
?/? c.649A>G r.(?) p.(Ile217Val) g.48047108T>C Copied from the Exome Variant Server SSX5_000003 9/10562 0/6727 9/3835 - - - - - - -
?/? c.685G>A r.(?) p.(Glu229Lys) g.48047072C>T Copied from the Exome Variant Server SSX5_000002 28/10562 0/6727 28/3835 - - - - - - -
?/? c.*4C>T r.(=) p.(=) g.48047063G>A Copied from the Exome Variant Server SSX5_000001 2/10562 1/6727 1/3835 - - - - - - -
Legend