Full data view for gene ABHD4

Information The variants shown are described using the NM_022060.2 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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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.23067218G>A Copied from the Exome Variant Server ABHD4_000001 1/11144 1/7278 0/3866 - - - - - - -
?/? c.23+29_23+30del r.(=) p.(=) g.23067267_23067268del Copied from the Exome Variant Server ABHD4_000002 395/10458 269/6772 126/3686 - - - - - - -
?/? c.23+29_23+30dup r.(=) p.(=) g.23067267_23067268dup Copied from the Exome Variant Server ABHD4_000003 50/10458 10/6772 40/3686 - - - - - - -
?/? c.23+38C>T r.(=) p.(=) g.23067276C>T Copied from the Exome Variant Server ABHD4_000004 62/11244 0/7326 62/3918 - - - - - - -
?/? c.23+58G>A r.(=) p.(=) g.23067296G>A Copied from the Exome Variant Server ABHD4_000005 128/4566 123/3182 5/1384 - - - - - - -
?/? c.24-49A>G r.(=) p.(=) g.23070523A>G Copied from the Exome Variant Server ABHD4_000006 18/13006 0/8600 18/4406 - - - - - - -
?/? c.51G>A r.(=) p.(=) g.23070599G>A Copied from the Exome Variant Server ABHD4_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.62G>A r.(?) p.(Arg21His) g.23070610G>A Copied from the Exome Variant Server ABHD4_000008 2/13006 2/8600 0/4406 - - - - - - -
?/? c.63C>T r.(=) p.(=) g.23070611C>T Copied from the Exome Variant Server ABHD4_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.87G>A r.(=) p.(=) g.23070635G>A Copied from the Exome Variant Server ABHD4_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.112+18C>T r.(=) p.(=) g.23070678C>T Copied from the Exome Variant Server ABHD4_000011 2/13006 0/8600 2/4406 - - - - - - -
?/? c.112+36T>A r.(=) p.(=) g.23070696T>A Copied from the Exome Variant Server ABHD4_000012 3/13006 3/8600 0/4406 - - - - - - -
?/? c.113-46G>A r.(=) p.(=) g.23072249G>A Copied from the Exome Variant Server ABHD4_000013 7/12830 6/8526 1/4304 - - - - - - -
?/? c.113-35del r.(=) p.(=) g.23072260del Copied from the Exome Variant Server ABHD4_000014 3/12406 0/8206 3/4200 - - - - - - -
?/? c.113-33T>G r.(=) p.(=) g.23072262T>G Copied from the Exome Variant Server ABHD4_000015 6/12904 0/8556 6/4348 - - - - - - -
?/? c.113-12T>G r.(=) p.(=) g.23072283T>G Copied from the Exome Variant Server ABHD4_000016 2/12974 2/8592 0/4382 - - - - - - -
?/? c.144A>G r.(=) p.(=) g.23072326A>G Copied from the Exome Variant Server ABHD4_000017 3/13002 3/8596 0/4406 - - - - - - -
?/? c.168C>T r.(=) p.(=) g.23072350C>T Copied from the Exome Variant Server ABHD4_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.173C>T r.(?) p.(Thr58Met) g.23072355C>T Copied from the Exome Variant Server ABHD4_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.189C>T r.(=) p.(=) g.23072371C>T Copied from the Exome Variant Server ABHD4_000020 4/13006 0/8600 4/4406 - - - - - - -
?/? c.190G>A r.(?) p.(Glu64Lys) g.23072372G>A Copied from the Exome Variant Server ABHD4_000021 5/13006 0/8600 5/4406 - - - - - - -
?/? c.191A>G r.(?) p.(Glu64Gly) g.23072373A>G Copied from the Exome Variant Server ABHD4_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.203G>A r.(?) p.(Arg68His) g.23072385G>A Copied from the Exome Variant Server ABHD4_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.213G>A r.(=) p.(=) g.23072395G>A Copied from the Exome Variant Server ABHD4_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237C>T r.(=) p.(=) g.23072419C>T Copied from the Exome Variant Server ABHD4_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.281G>A r.(?) p.(Arg94His) g.23072463G>A Copied from the Exome Variant Server ABHD4_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.288A>G r.(=) p.(=) g.23072470A>G Copied from the Exome Variant Server ABHD4_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.316G>A r.(?) p.(Gly106Arg) g.23072498G>A Copied from the Exome Variant Server ABHD4_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.319C>T r.(?) p.(Arg107*) g.23072501C>T Copied from the Exome Variant Server ABHD4_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.325T>G r.(?) p.(Ser109Ala) g.23072507T>G Copied from the Exome Variant Server ABHD4_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.351G>A r.(=) p.(=) g.23072533G>A Copied from the Exome Variant Server ABHD4_000031 4/13006 3/8600 1/4406 - - - - - - -
?/? c.378A>G r.(=) p.(=) g.23072560A>G Copied from the Exome Variant Server ABHD4_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.381G>A r.(=) p.(=) g.23072563G>A Copied from the Exome Variant Server ABHD4_000033 3/13006 0/8600 3/4406 - - - - - - -
?/? c.403A>G r.(?) p.(Met135Val) g.23072585A>G Copied from the Exome Variant Server ABHD4_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.411C>A r.(=) p.(=) g.23072593C>A Copied from the Exome Variant Server ABHD4_000035 5/13006 5/8600 0/4406 - - - - - - -
?/? c.451C>T r.(=) p.(=) g.23072633C>T Copied from the Exome Variant Server ABHD4_000036 5/13006 5/8600 0/4406 - - - - - - -
?/? c.472A>G r.(?) p.(Lys158Glu) g.23072654A>G Copied from the Exome Variant Server ABHD4_000037 2/13002 2/8596 0/4406 - - - - - - -
?/? c.474G>A r.(=) p.(=) g.23072656G>A Copied from the Exome Variant Server ABHD4_000038 36/13002 0/8596 36/4406 - - - - - - -
?/? c.485+18C>G r.(=) p.(=) g.23072685C>G Copied from the Exome Variant Server ABHD4_000039 61/13006 1/8600 60/4406 - - - - - - -
?/? c.486-13G>A r.(=) p.(=) g.23072817G>A Copied from the Exome Variant Server ABHD4_000040 5/13006 2/8600 3/4406 - - - - - - -
?/? c.530G>A r.(?) p.(Arg177Gln) g.23072874G>A Copied from the Exome Variant Server ABHD4_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.533C>T r.(?) p.(Pro178Leu) g.23072877C>T Copied from the Exome Variant Server ABHD4_000042 2/13006 2/8600 0/4406 - - - - - - -
?/? c.559C>T r.(?) p.(Pro187Ser) g.23072903C>T Copied from the Exome Variant Server ABHD4_000043 4/13006 0/8600 4/4406 - - - - - - -
?/? c.560C>T r.(?) p.(Pro187Leu) g.23072904C>T Copied from the Exome Variant Server ABHD4_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.579C>T r.(=) p.(=) g.23072923C>T Copied from the Exome Variant Server ABHD4_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.583G>A r.(?) p.(Ala195Thr) g.23072927G>A Copied from the Exome Variant Server ABHD4_000046 2/13006 2/8600 0/4406 - - - - - - -
?/? c.610T>C r.(=) p.(=) g.23072954T>C Copied from the Exome Variant Server ABHD4_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.623G>A r.(?) p.(Arg208Gln) g.23072967G>A Copied from the Exome Variant Server ABHD4_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.625G>A r.(?) p.(Val209Ile) g.23072969G>A Copied from the Exome Variant Server ABHD4_000049 4/13006 4/8600 0/4406 - - - - - - -
?/? c.640+23del r.(=) p.(=) g.23073007del Copied from the Exome Variant Server ABHD4_000050 1/12518 0/8254 1/4264 - - - - - - -
?/? c.640+28G>A r.(=) p.(=) g.23073012G>A Copied from the Exome Variant Server ABHD4_000051 86/13006 0/8600 86/4406 - - - - - - -
?/? c.640+41G>A r.(=) p.(=) g.23073025G>A Copied from the Exome Variant Server ABHD4_000052 2/13006 2/8600 0/4406 - - - - - - -
?/? c.640+50G>C r.(=) p.(=) g.23073034G>C Copied from the Exome Variant Server ABHD4_000053 2/13006 2/8600 0/4406 - - - - - - -
?/? c.641-34A>G r.(=) p.(=) g.23075294A>G Copied from the Exome Variant Server ABHD4_000054 11/13002 10/8598 1/4404 - - - - - - -
?/? c.641-33T>C r.(=) p.(=) g.23075295T>C Copied from the Exome Variant Server ABHD4_000055 1/13002 1/8598 0/4404 - - - - - - -
?/? c.679del r.(?) p.(Arg227Alafs*33) g.23075366del Copied from the Exome Variant Server ABHD4_000056 15/12518 13/8254 2/4264 - - - - - - -
?/? c.712A>G r.(?) p.(Ile238Val) g.23075399A>G Copied from the Exome Variant Server ABHD4_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.752+9C>G r.(=) p.(=) g.23075448C>G Copied from the Exome Variant Server ABHD4_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.752+28G>A r.(=) p.(=) g.23075467G>A Copied from the Exome Variant Server ABHD4_000059 3/13006 3/8600 0/4406 - - - - - - -
?/? c.775A>T r.(?) p.(Met259Leu) g.23078652A>T Copied from the Exome Variant Server ABHD4_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.800G>A r.(?) p.(Arg267Gln) g.23078677G>A Copied from the Exome Variant Server ABHD4_000061 2/13006 1/8600 1/4406 - - - - - - -
?/? c.802C>T r.(?) p.(Arg268Cys) g.23078679C>T Copied from the Exome Variant Server ABHD4_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.806C>G r.(?) p.(Pro269Arg) g.23078683C>G Copied from the Exome Variant Server ABHD4_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.818G>A r.(?) p.(Arg273Gln) g.23078695G>A Copied from the Exome Variant Server ABHD4_000064 2/13006 2/8600 0/4406 - - - - - - -
?/? c.841G>A r.(?) p.(Val281Met) g.23078718G>A Copied from the Exome Variant Server ABHD4_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.853A>G r.(?) p.(Met285Val) g.23078730A>G Copied from the Exome Variant Server ABHD4_000066 6/13006 0/8600 6/4406 - - - - - - -
?/? c.861C>T r.(=) p.(=) g.23078738C>T Copied from the Exome Variant Server ABHD4_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.867C>T r.(=) p.(=) g.23078744C>T Copied from the Exome Variant Server ABHD4_000068 14/13006 0/8600 14/4406 - - - - - - -
?/? c.868G>A r.(?) p.(Asp290Asn) g.23078745G>A Copied from the Exome Variant Server ABHD4_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.876G>A r.(?) p.(Trp292*) g.23078753G>A Copied from the Exome Variant Server ABHD4_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.913C>T r.(?) p.(Arg305Trp) g.23078790C>T Copied from the Exome Variant Server ABHD4_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.927T>C r.(=) p.(=) g.23078804T>C Copied from the Exome Variant Server ABHD4_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.933A>T r.(=) p.(=) g.23078810A>T Copied from the Exome Variant Server ABHD4_000073 1606/13006 469/8600 1137/4406 - - - - - - -
?/? c.939+33G>A r.(=) p.(=) g.23078849G>A Copied from the Exome Variant Server ABHD4_000074 829/13006 101/8600 728/4406 - - - - - - -
?/? c.940-47A>C r.(=) p.(=) g.23079718A>C Copied from the Exome Variant Server ABHD4_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.940-35A>G r.(=) p.(=) g.23079730A>G Copied from the Exome Variant Server ABHD4_000076 7825/13006 4175/8600 3650/4406 - - - - - - -
?/? c.940-30A>G r.(=) p.(=) g.23079735A>G Copied from the Exome Variant Server ABHD4_000077 71/13006 2/8600 69/4406 - - - - - - -
?/? c.940-18C>T r.(=) p.(=) g.23079747C>T Copied from the Exome Variant Server ABHD4_000078 3/13006 0/8600 3/4406 - - - - - - -
?/? c.940-13T>C r.(=) p.(=) g.23079752T>C Copied from the Exome Variant Server ABHD4_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1014C>T r.(=) p.(=) g.23079839C>T Copied from the Exome Variant Server ABHD4_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1015G>A r.(?) p.(Asp339Asn) g.23079840G>A Copied from the Exome Variant Server ABHD4_000081 6/13006 6/8600 0/4406 - - - - - - -
?/? c.*57T>G r.(=) p.(=) g.23079911T>G Copied from the Exome Variant Server ABHD4_000082 3/4566 0/3182 3/1384 - - - - - - -
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