Full data view for gene ABHD10

Information The variants shown are described using the NM_018394.2 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.-47G>A r.(=) p.(=) g.111697862G>A Copied from the Exome Variant Server ABHD10_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-42T>C r.(=) p.(=) g.111697867T>C Copied from the Exome Variant Server ABHD10_000005 2621/13004 1730/8600 891/4404 - - - - - - -
?/? c.-39C>T r.(=) p.(=) g.111697870C>T Copied from the Exome Variant Server ABHD10_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-25G>C r.(=) p.(=) g.111697884G>C Copied from the Exome Variant Server ABHD10_000009 19/13004 0/8598 19/4406 - - - - - - -
?/? c.-16G>A r.(=) p.(=) g.111697893G>A Copied from the Exome Variant Server ABHD10_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.13C>G r.(?) p.(Arg5Gly) g.111697921C>G Copied from the Exome Variant Server ABHD10_000013 1/13004 1/8598 0/4406 - - - - - - -
?/? c.14G>C r.(?) p.(Arg5Pro) g.111697922G>C Copied from the Exome Variant Server ABHD10_000015 39/13004 0/8598 39/4406 - - - - - - -
?/? c.23C>A r.(?) p.(Ala8Asp) g.111697931C>A Copied from the Exome Variant Server ABHD10_000001 2/13002 2/8600 0/4402 - - - - - - -
?/? c.25G>T r.(?) p.(Val9Leu) g.111697933G>T Copied from the Exome Variant Server ABHD10_000002 2/13002 0/8600 2/4402 - - - - - - -
?/? c.32C>A r.(?) p.(Ala11Asp) g.111697940C>A Copied from the Exome Variant Server ABHD10_000004 2/13004 0/8600 2/4404 - - - - - - -
?/? c.79C>T r.(?) p.(Pro27Ser) g.111697987C>T Copied from the Exome Variant Server ABHD10_000006 15/13004 13/8598 2/4406 - - - - - - -
?/? c.93C>T r.(=) p.(=) g.111698001C>T Copied from the Exome Variant Server ABHD10_000008 1/13004 1/8598 0/4406 - - - - - - -
?/? c.100C>T r.(=) p.(=) g.111698008C>T Copied from the Exome Variant Server ABHD10_000010 1/13004 1/8600 0/4404 - - - - - - -
?/? c.108A>G r.(=) p.(=) g.111698016A>G Copied from the Exome Variant Server ABHD10_000012 31/13004 0/8600 31/4404 - - - - - - -
?/? c.117T>C r.(=) p.(=) g.111698025T>C Copied from the Exome Variant Server ABHD10_000014 4/13000 0/8596 4/4404 - - - - - - -
?/? c.142+20G>A r.(=) p.(=) g.111698070G>A Copied from the Exome Variant Server ABHD10_000016 1/12964 1/8576 0/4388 - - - - - - -
?/? c.142+31G>C r.(=) p.(=) g.111698081G>C Copied from the Exome Variant Server ABHD10_000017 3/12976 0/8584 3/4392 - - - - - - -
?/? c.142+46_142+47insC r.(=) p.(=) g.111698096_111698097insC Copied from the Exome Variant Server ABHD10_000018 2/12416 1/8192 1/4224 - - - - - - -
?/? c.143-44C>G r.(=) p.(=) g.111700587C>G Copied from the Exome Variant Server ABHD10_000019 1/13004 1/8600 0/4404 - - - - - - -
?/? c.143-30C>T r.(=) p.(=) g.111700601C>T Copied from the Exome Variant Server ABHD10_000020 1/13004 1/8600 0/4404 - - - - - - -
?/? c.179G>T r.(?) p.(Arg60Leu) g.111700667G>T Copied from the Exome Variant Server ABHD10_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.252T>C r.(=) p.(=) g.111700740T>C Copied from the Exome Variant Server ABHD10_000022 55/13006 0/8600 55/4406 - - - - - - -
?/? c.266A>C r.(?) p.(Asn89Thr) g.111700754A>C Copied from the Exome Variant Server ABHD10_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.278C>T r.(?) p.(Ala93Val) g.111700766C>T Copied from the Exome Variant Server ABHD10_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.279G>A r.(=) p.(=) g.111700767G>A Copied from the Exome Variant Server ABHD10_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.326+17A>G r.(=) p.(=) g.111700831A>G Copied from the Exome Variant Server ABHD10_000026 2/13006 2/8600 0/4406 - - - - - - -
?/? c.326+28A>G r.(=) p.(=) g.111700842A>G Copied from the Exome Variant Server ABHD10_000027 15/13006 0/8600 15/4406 - - - - - - -
?/? c.326+50T>C r.(=) p.(=) g.111700864T>C Copied from the Exome Variant Server ABHD10_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.327-35A>G r.(=) p.(=) g.111705076A>G Copied from the Exome Variant Server ABHD10_000029 1/13004 0/8600 1/4404 - - - - - - -
?/? c.327-33A>G r.(=) p.(=) g.111705078A>G Copied from the Exome Variant Server ABHD10_000030 2/13002 2/8600 0/4402 - - - - - - -
?/? c.327-12C>G r.(=) p.(=) g.111705099C>G Copied from the Exome Variant Server ABHD10_000031 30/13006 0/8600 30/4406 - - - - - - -
?/? c.367G>T r.(?) p.(Glu123*) g.111705151G>T Copied from the Exome Variant Server ABHD10_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.408T>C r.(=) p.(=) g.111705192T>C Copied from the Exome Variant Server ABHD10_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.438+28A>C r.(=) p.(=) g.111705250A>C Copied from the Exome Variant Server ABHD10_000034 2/13006 1/8600 1/4406 - - - - - - -
?/? c.438+33T>A r.(=) p.(=) g.111705255T>A Copied from the Exome Variant Server ABHD10_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.438+42G>A r.(=) p.(=) g.111705264G>A Copied from the Exome Variant Server ABHD10_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.439-34A>G r.(=) p.(=) g.111705727A>G Copied from the Exome Variant Server ABHD10_000037 1784/13000 927/8598 857/4402 - - - - - - -
?/? c.439-18A>C r.(=) p.(=) g.111705743A>C Copied from the Exome Variant Server ABHD10_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.465G>C r.(=) p.(=) g.111705787G>C Copied from the Exome Variant Server ABHD10_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.543C>G r.(=) p.(=) g.111705865C>G Copied from the Exome Variant Server ABHD10_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.559A>G r.(?) p.(Asn187Asp) g.111705881A>G Copied from the Exome Variant Server ABHD10_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.576+40C>T r.(=) p.(=) g.111705938C>T Copied from the Exome Variant Server ABHD10_000042 196/13006 1/8600 195/4406 - - - - - - -
?/? c.576+48_576+50del r.(=) p.(=) g.111705946_111705948del Copied from the Exome Variant Server ABHD10_000043 1/12520 1/8254 0/4266 - - - - - - -
?/? c.576+50T>A r.(=) p.(=) g.111705948T>A Copied from the Exome Variant Server ABHD10_000044 2/13006 2/8600 0/4406 - - - - - - -
?/? c.577-22del r.(=) p.(=) g.111710202del Copied from the Exome Variant Server ABHD10_000045 6728/12516 4451/8252 2277/4264 - - - - - - -
?/? c.577-18T>C r.(=) p.(=) g.111710206T>C Copied from the Exome Variant Server ABHD10_000046 2832/13004 1905/8598 927/4406 - - - - - - -
?/? c.584A>T r.(?) p.(Lys195Met) g.111710231A>T Copied from the Exome Variant Server ABHD10_000047 2/13006 0/8600 2/4406 - - - - - - -
?/? c.596T>C r.(?) p.(Met199Thr) g.111710243T>C Copied from the Exome Variant Server ABHD10_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.597G>C r.(?) p.(Met199Ile) g.111710244G>C Copied from the Exome Variant Server ABHD10_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.605T>C r.(?) p.(Val202Ala) g.111710252T>C Copied from the Exome Variant Server ABHD10_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.612C>T r.(=) p.(=) g.111710259C>T Copied from the Exome Variant Server ABHD10_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.631_633del r.(?) p.(Glu212del) g.111710278_111710280del Copied from the Exome Variant Server ABHD10_000057 3/12520 3/8254 0/4266 - - - - - - -
?/? c.637G>A r.(?) p.(Gly213Arg) g.111710284G>A Copied from the Exome Variant Server ABHD10_000059 25/13006 1/8600 24/4406 - - - - - - -
?/? c.640G>C r.(?) p.(Val214Leu) g.111710287G>C Copied from the Exome Variant Server ABHD10_000061 5/13006 2/8600 3/4406 - - - - - - -
?/? c.658A>G r.(?) p.(Ser220Gly) g.111710305A>G Copied from the Exome Variant Server ABHD10_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.692_693insA r.(?) p.(His232Thrfs*2) g.111710339_111710340insA Copied from the Exome Variant Server ABHD10_000065 1/12520 0/8254 1/4266 - - - - - - -
?/? c.703A>G r.(?) p.(Ile235Val) g.111710350A>G Copied from the Exome Variant Server ABHD10_000067 7/13006 0/8600 7/4406 - - - - - - -
?/? c.751A>G r.(?) p.(Ile251Val) g.111710398A>G Copied from the Exome Variant Server ABHD10_000049 633/13006 582/8600 51/4406 - - - - - - -
?/? c.752T>C r.(?) p.(Ile251Thr) g.111710399T>C Copied from the Exome Variant Server ABHD10_000051 2/13006 0/8600 2/4406 - - - - - - -
?/? c.777G>C r.(?) p.(Gln259His) g.111710424G>C Copied from the Exome Variant Server ABHD10_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.799A>C r.(?) p.(Thr267Pro) g.111710446A>C Copied from the Exome Variant Server ABHD10_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.800C>G r.(?) p.(Thr267Arg) g.111710447C>G Copied from the Exome Variant Server ABHD10_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.833A>T r.(?) p.(Asp278Val) g.111710480A>T Copied from the Exome Variant Server ABHD10_000058 16/13006 15/8600 1/4406 - - - - - - -
?/? c.885T>C r.(=) p.(=) g.111710532T>C Copied from the Exome Variant Server ABHD10_000060 21/13006 19/8600 2/4406 - - - - - - -
?/? c.906A>G r.(=) p.(=) g.111710553A>G Copied from the Exome Variant Server ABHD10_000062 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*7A>T r.(=) p.(=) g.111710575A>T Copied from the Exome Variant Server ABHD10_000064 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*19T>C r.(=) p.(=) g.111710587T>C Copied from the Exome Variant Server ABHD10_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*37C>T r.(=) p.(=) g.111710605C>T Copied from the Exome Variant Server ABHD10_000068 1/13006 0/8600 1/4406 - - - - - - -
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