Full data view for gene HDAC8

Information The variants shown are described using the NM_018486.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
Legend  

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.-25G>A r.(=) p.(=) g.71792636C>T Copied from the Exome Variant Server HDAC8_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.20C>G r.(?) p.(Pro7Arg) g.71792592G>C Copied from the Exome Variant Server HDAC8_000060 2/10563 2/6728 0/3835 - - - - - - -
?/? c.31G>C r.(?) p.(Gly11Arg) g.71792581C>G Copied from the Exome Variant Server HDAC8_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.57C>T r.(=) p.(=) g.71792555G>A Copied from the Exome Variant Server HDAC8_000058 16/10563 0/6728 16/3835 - - - - - - -
?/? c.111+26A>G r.(=) p.(=) g.71792475T>C Copied from the Exome Variant Server HDAC8_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.111+38G>A r.(=) p.(=) g.71792463C>T Copied from the Exome Variant Server HDAC8_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.111+42G>A r.(=) p.(=) g.71792459C>T Copied from the Exome Variant Server HDAC8_000055 2/10563 0/6728 2/3835 - - - - - - -
?/? c.112-19del r.(=) p.(=) g.71791978del Copied from the Exome Variant Server HDAC8_000054 2501/10197 1782/6479 719/3718 - - - - - - -
?/? c.112-19dup r.(=) p.(=) g.71791978dup Copied from the Exome Variant Server HDAC8_000053 1054/10197 284/6479 770/3718 - - - - - - -
?/? c.112-19_112-18del r.(=) p.(=) g.71791977_71791978del Copied from the Exome Variant Server HDAC8_000052 207/10197 154/6479 53/3718 - - - - - - -
?/? c.112-19_112-17del r.(=) p.(=) g.71791976_71791978del Copied from the Exome Variant Server HDAC8_000051 21/10197 15/6479 6/3718 - - - - - - -
?/? c.159G>A r.(=) p.(=) g.71791912C>T Copied from the Exome Variant Server HDAC8_000050 2440/10563 68/6728 2372/3835 - - - - - - -
?/? c.164+19A>T r.(=) p.(=) g.71791888T>A Copied from the Exome Variant Server HDAC8_000049 2/10562 0/6727 2/3835 - - - - - - -
?/? c.165-49C>T r.(=) p.(=) g.71788783G>A Copied from the Exome Variant Server HDAC8_000048 8/10563 0/6728 8/3835 - - - - - - -
?/? c.165-48G>A r.(=) p.(=) g.71788782C>T Copied from the Exome Variant Server HDAC8_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.198G>T r.(?) p.(Glu66Asp) g.71788701C>A Copied from the Exome Variant Server HDAC8_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.257G>A r.(?) p.(Gly86Asp) g.71788642C>T Copied from the Exome Variant Server HDAC8_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.295+13C>T r.(=) p.(=) g.71788591G>A Copied from the Exome Variant Server HDAC8_000044 2/10563 0/6728 2/3835 - - - - - - -
?/? c.295+45T>G r.(=) p.(=) g.71788559A>C Copied from the Exome Variant Server HDAC8_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.295+50_295+51insT r.(=) p.(=) g.71788553_71788554insA Copied from the Exome Variant Server HDAC8_000042 4/10203 3/6483 1/3720 - - - - - - -
?/? c.296-14A>G r.(=) p.(=) g.71787894T>C Copied from the Exome Variant Server HDAC8_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.351G>T r.(=) p.(=) g.71787825C>A Copied from the Exome Variant Server HDAC8_000040 2/10563 2/6728 0/3835 - - - - - - -
?/? c.372A>G r.(=) p.(=) g.71787804T>C Copied from the Exome Variant Server HDAC8_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.429T>C r.(=) p.(=) g.71787747A>G Copied from the Exome Variant Server HDAC8_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.437+58G>A r.(=) p.(=) g.71787681C>T Copied from the Exome Variant Server HDAC8_000037 1/8125 1/5498 0/2627 - - - - - - -
?/? c.437+82G>A r.(=) p.(=) g.71787657C>T Copied from the Exome Variant Server HDAC8_000036 9/8125 9/5498 0/2627 - - - - - - -
?/? c.437+98C>T r.(=) p.(=) g.71787641G>A Copied from the Exome Variant Server HDAC8_000035 1/8125 0/5498 1/2627 - - - - - - -
?/? c.437+108T>C r.(=) p.(=) g.71787631A>G Copied from the Exome Variant Server HDAC8_000034 1/8125 0/5498 1/2627 - - - - - - -
?/? c.437+157_437+158insA r.(=) p.(=) g.71787581_71787582insT Copied from the Exome Variant Server HDAC8_000033 8/9870 0/6353 8/3517 - - - - - - -
?/? c.437+171A>G r.(=) p.(=) g.71787568T>C Copied from the Exome Variant Server HDAC8_000032 1/8123 1/5498 0/2625 - - - - - - -
?/? c.438-25G>A r.(=) p.(=) g.71715143C>T Copied from the Exome Variant Server HDAC8_000031 1/10561 1/6726 0/3835 - - - - - - -
?/? c.438-15C>T r.(=) p.(=) g.71715133G>A Copied from the Exome Variant Server HDAC8_000030 236/10563 35/6728 201/3835 - - - - - - -
?/? c.443A>G r.(?) p.(Glu148Gly) g.71715113T>C Copied from the Exome Variant Server HDAC8_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.480G>A r.(=) p.(=) g.71715076C>T Copied from the Exome Variant Server HDAC8_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.491G>A r.(?) p.(Arg164Gln) g.71715065C>T Copied from the Exome Variant Server HDAC8_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.522C>T r.(=) p.(=) g.71715034G>A Copied from the Exome Variant Server HDAC8_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.551-17G>A r.(=) p.(=) g.71710873C>T Copied from the Exome Variant Server HDAC8_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.629-263T>C r.(=) p.(=) g.71709154A>G Copied from the Exome Variant Server HDAC8_000024 2/4520 0/3102 2/1418 - - - - - - -
?/? c.629-47G>A r.(=) p.(=) g.71708938C>T Copied from the Exome Variant Server HDAC8_000023 10/10561 9/6726 1/3835 - - - - - - -
?/? c.629-11C>G r.(=) p.(=) g.71708902G>C Copied from the Exome Variant Server HDAC8_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.639C>T r.(=) p.(=) g.71708881G>A Copied from the Exome Variant Server HDAC8_000021 3/10563 2/6728 1/3835 - - - - - - -
?/? c.640G>A r.(?) p.(Val214Met) g.71708880C>T Copied from the Exome Variant Server HDAC8_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.731G>A r.(?) p.(Cys244Tyr) g.71708789C>T Copied from the Exome Variant Server HDAC8_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.737+29G>A r.(=) p.(=) g.71708754C>T Copied from the Exome Variant Server HDAC8_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.738-9994G>A r.(=) p.(=) g.71694575C>T Copied from the Exome Variant Server HDAC8_000017 1/8125 0/5498 1/2627 - - - - - - -
?/? c.738-9981del r.(=) p.(=) g.71694562del Copied from the Exome Variant Server HDAC8_000016 4/8319 0/5481 4/2838 - - - - - - -
?/? c.738-9881C>T r.(=) p.(=) g.71694462G>A Copied from the Exome Variant Server HDAC8_000015 5/8125 4/5498 1/2627 - - - - - - -
?/? c.738-3289C>T r.(=) p.(=) g.71687870G>A Copied from the Exome Variant Server HDAC8_000014 4/4521 0/3103 4/1418 - - - - - - -
?/? c.756C>T r.(=) p.(=) g.71684563G>A Copied from the Exome Variant Server HDAC8_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.911-29C>T r.(=) p.(=) g.71681977G>A Copied from the Exome Variant Server HDAC8_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.933G>A r.(=) p.(=) g.71681926C>T Copied from the Exome Variant Server HDAC8_000011 3/10563 1/6728 2/3835 - - - - - - -
?/? c.1005+38G>C r.(=) p.(=) g.71681816C>G Copied from the Exome Variant Server HDAC8_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1111+6C>T r.(=) p.(=) g.71571577G>A Copied from the Exome Variant Server HDAC8_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1111+9C>T r.(=) p.(=) g.71571574G>A Copied from the Exome Variant Server HDAC8_000008 5/10563 2/6728 3/3835 - - - - - - -
?/? c.1111+10G>T r.(=) p.(=) g.71571573C>A Copied from the Exome Variant Server HDAC8_000007 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1111+45T>C r.(=) p.(=) g.71571538A>G Copied from the Exome Variant Server HDAC8_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1111+49G>T r.(=) p.(=) g.71571534C>A Copied from the Exome Variant Server HDAC8_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1112-42A>G r.(=) p.(=) g.71549968T>C Copied from the Exome Variant Server HDAC8_000004 226/10563 0/6728 226/3835 - - - - - - -
?/? c.*3G>A r.(=) p.(=) g.71549901C>T Copied from the Exome Variant Server HDAC8_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*61G>C r.(=) p.(=) g.71549843C>G Copied from the Exome Variant Server HDAC8_000002 1/3600 1/2391 0/1209 - - - - - - -
?/? c.*392C>G r.(=) p.(=) g.71549512G>C Copied from the Exome Variant Server HDAC8_000001 3597/4503 2538/3089 1059/1414 - - - - - - -
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