Unique variants in gene ABHD3

Information The variants shown are described using the NM_138340.4 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-52_-51insTCGCCCGCTC r.(=) p.(=) g.19284677_19284678insGAGCGGGCGA Copied from the Exome Variant Server ABHD3_000070 1743/6976 589/4910 1154/2066
1 c.-49_-48del r.(=) p.(=) g.19284674_19284675del Copied from the Exome Variant Server ABHD3_000069 207/11192 49/7404 158/3788
1 c.-40C>A r.(=) p.(=) g.19284666G>T Copied from the Exome Variant Server ABHD3_000068 1/12244 0/8096 1/4148
1 c.1A>G r.? p.? g.19284626T>C Copied from the Exome Variant Server ABHD3_000067 3/12950 0/8580 3/4370
1 c.7C>T r.(?) p.(Arg3Cys) g.19284620G>A Copied from the Exome Variant Server ABHD3_000066 10/12956 9/8586 1/4370
1 c.22C>T r.(=) p.(=) g.19284605G>A Copied from the Exome Variant Server ABHD3_000065 43/12992 43/8600 0/4392
1 c.35C>A r.(?) p.(Ser12Tyr) g.19284592G>T Copied from the Exome Variant Server ABHD3_000064 23/12990 0/8598 23/4392
1 c.50T>C r.(?) p.(Leu17Pro) g.19284577A>G Copied from the Exome Variant Server ABHD3_000063 1/12996 1/8600 0/4396
1 c.87C>T r.(=) p.(=) g.19284540G>A Copied from the Exome Variant Server ABHD3_000062 1/12978 1/8592 0/4386
1 c.94G>C r.(?) p.(Val32Leu) g.19284533C>G Copied from the Exome Variant Server ABHD3_000061 1/12974 1/8590 0/4384
1 c.162+3G>A r.spl? p.? g.19284462C>T Copied from the Exome Variant Server ABHD3_000060 236/12750 1/8464 235/4286
1 c.162+7C>T r.(=) p.(=) g.19284458G>A Copied from the Exome Variant Server ABHD3_000059 1/12696 0/8424 1/4272
1 c.162+19A>C r.(=) p.(=) g.19284446T>G Copied from the Exome Variant Server ABHD3_000058 1/12570 0/8332 1/4238
1 c.163-6del r.(=) p.(=) g.19283714del Copied from the Exome Variant Server ABHD3_000057 1/12518 0/8254 1/4264
1 c.213C>A r.(?) p.(Asp71Glu) g.19283658G>T Copied from the Exome Variant Server ABHD3_000056 2/13006 0/8600 2/4406
1 c.252C>G r.(=) p.(=) g.19283619G>C Copied from the Exome Variant Server ABHD3_000055 6/13006 6/8600 0/4406
1 c.264G>C r.(?) p.(Glu88Asp) g.19283607C>G Copied from the Exome Variant Server ABHD3_000054 1/13006 1/8600 0/4406
1 c.285T>C r.(=) p.(=) g.19283586A>G Copied from the Exome Variant Server ABHD3_000053 1/13006 0/8600 1/4406
1 c.289C>T r.(?) p.(Pro97Ser) g.19283582G>A Copied from the Exome Variant Server ABHD3_000052 1/13006 0/8600 1/4406
1 c.307C>T r.(?) p.(Pro103Ser) g.19283564G>A Copied from the Exome Variant Server ABHD3_000051 2/13006 2/8600 0/4406
1 c.326+7G>T r.(=) p.(=) g.19283538C>A Copied from the Exome Variant Server ABHD3_000050 1/13006 1/8600 0/4406
1 c.326+42G>C r.(=) p.(=) g.19283503C>G Copied from the Exome Variant Server ABHD3_000049 1/13004 0/8600 1/4404
1 c.326+47T>G r.(=) p.(=) g.19283498A>C Copied from the Exome Variant Server ABHD3_000048 1/13004 0/8600 1/4404
1 c.327-42A>C r.(=) p.(=) g.19282501T>G Copied from the Exome Variant Server ABHD3_000047 3/12966 3/8580 0/4386
1 c.327-37A>T r.(=) p.(=) g.19282496T>A Copied from the Exome Variant Server ABHD3_000046 1/12980 1/8588 0/4392
1 c.327-20T>C r.(=) p.(=) g.19282479A>G Copied from the Exome Variant Server ABHD3_000045 15/13000 0/8596 15/4404
1 c.335T>C r.(?) p.(Ile112Thr) g.19282451A>G Copied from the Exome Variant Server ABHD3_000044 1/13006 1/8600 0/4406
1 c.392C>T r.(?) p.(Thr131Met) g.19282394G>A Copied from the Exome Variant Server ABHD3_000043 25/13006 0/8600 25/4406
1 c.446C>T r.(?) p.(Thr149Met) g.19282340G>A Copied from the Exome Variant Server ABHD3_000042 1/13006 0/8600 1/4406
1 c.447G>A r.(=) p.(=) g.19282339C>T Copied from the Exome Variant Server ABHD3_000041 1/13006 0/8600 1/4406
1 c.476A>G r.(?) p.(His159Arg) g.19282310T>C Copied from the Exome Variant Server ABHD3_000040 1/13006 1/8600 0/4406
1 c.509+26del r.(=) p.(=) g.19282251del Copied from the Exome Variant Server ABHD3_000039 13/12518 7/8254 6/4264
1 c.510-39_510-38del r.(=) p.(=) g.19263964_19263965del Copied from the Exome Variant Server ABHD3_000038 1/12508 1/8244 0/4264
1 c.555+44C>T r.(=) p.(=) g.19263837G>A Copied from the Exome Variant Server ABHD3_000037 1/12986 1/8582 0/4404
1 c.555+296C>T r.(=) p.(=) g.19263585G>A Copied from the Exome Variant Server ABHD3_000036 1/10296 0/7160 1/3136
1 c.555+313T>C r.(=) p.(=) g.19263568A>G Copied from the Exome Variant Server ABHD3_000035 4/10296 3/7160 1/3136
1 c.555+319T>C r.(=) p.(=) g.19263562A>G Copied from the Exome Variant Server ABHD3_000034 1/10296 0/7160 1/3136
1 c.555+456T>C r.(=) p.(=) g.19263425A>G Copied from the Exome Variant Server ABHD3_000033 1/10286 1/7152 0/3134
1 c.556-40C>A r.(=) p.(=) g.19244231G>T Copied from the Exome Variant Server ABHD3_000032 1/13006 1/8600 0/4406
1 c.585T>C r.(=) p.(=) g.19244162A>G Copied from the Exome Variant Server ABHD3_000031 155/13006 1/8600 154/4406
1 c.599C>T r.(?) p.(Thr200Ile) g.19244148G>A Copied from the Exome Variant Server ABHD3_000030 1/13006 1/8600 0/4406
1 c.612del r.(?) p.(His204Glnfs*24) g.19244135del Copied from the Exome Variant Server ABHD3_000029 1/12518 1/8254 0/4264
1 c.642C>T r.(=) p.(=) g.19244105G>A Copied from the Exome Variant Server ABHD3_000028 1/13006 1/8600 0/4406
1 c.654G>A r.(=) p.(=) g.19244093C>T Copied from the Exome Variant Server ABHD3_000027 1/13006 1/8600 0/4406
1 c.668+27C>G r.(=) p.(=) g.19244052G>C Copied from the Exome Variant Server ABHD3_000026 1/13006 1/8600 0/4406
1 c.678T>G r.(=) p.(=) g.19239295A>C Copied from the Exome Variant Server ABHD3_000025 35/13006 0/8600 35/4406
1 c.698T>C r.(?) p.(Ile233Thr) g.19239275A>G Copied from the Exome Variant Server ABHD3_000024 7/13006 0/8600 7/4406
1 c.711G>A r.(=) p.(=) g.19239262C>T Copied from the Exome Variant Server ABHD3_000023 1/13006 0/8600 1/4406
1 c.739G>A r.(?) p.(Val247Ile) g.19239234C>T Copied from the Exome Variant Server ABHD3_000022 1/13006 0/8600 1/4406
1 c.756C>T r.(=) p.(=) g.19239217G>A Copied from the Exome Variant Server ABHD3_000021 2/13006 2/8600 0/4406
1 c.819C>T r.(=) p.(=) g.19239154G>A Copied from the Exome Variant Server ABHD3_000020 226/13006 1/8600 225/4406
1 c.842+42G>A r.(=) p.(=) g.19239089C>T Copied from the Exome Variant Server ABHD3_000019 147/13002 20/8596 127/4406
1 c.843-44T>C r.(=) p.(=) g.19237157A>G Copied from the Exome Variant Server ABHD3_000018 1/13000 1/8596 0/4404
1 c.843-19C>T r.(=) p.(=) g.19237132G>A Copied from the Exome Variant Server ABHD3_000017 155/13002 2/8598 153/4404
1 c.854T>C r.(?) p.(Met285Thr) g.19237102A>G Copied from the Exome Variant Server ABHD3_000016 1/13004 0/8600 1/4404
1 c.864A>G r.(=) p.(=) g.19237092T>C Copied from the Exome Variant Server ABHD3_000015 1/13004 1/8600 0/4404
1 c.884T>C r.(?) p.(Val295Ala) g.19237072A>G Copied from the Exome Variant Server ABHD3_000014 1/13002 1/8598 0/4404
1 c.892-7_892-6del r.(=) p.(=) g.19236993_19236994del Copied from the Exome Variant Server ABHD3_000013 29/12518 18/8254 11/4264
1 c.899C>G r.(?) p.(Ser300Cys) g.19236980G>C Copied from the Exome Variant Server ABHD3_000012 1/13006 1/8600 0/4406
1 c.919C>T r.(?) p.(Arg307*) g.19236960G>A Copied from the Exome Variant Server ABHD3_000011 1/13006 1/8600 0/4406
1 c.956A>G r.(?) p.(Asp319Gly) g.19236923T>C Copied from the Exome Variant Server ABHD3_000010 8/13006 0/8600 8/4406
1 c.980C>T r.(?) p.(Pro327Leu) g.19236899G>A Copied from the Exome Variant Server ABHD3_000009 2/13006 2/8600 0/4406
1 c.981G>A r.(=) p.(=) g.19236898C>T Copied from the Exome Variant Server ABHD3_000008 1/13006 1/8600 0/4406
1 c.1058-38T>G r.(=) p.(=) g.19231762A>C Copied from the Exome Variant Server ABHD3_000007 3/12986 0/8592 3/4394
1 c.1058-34_1058-32del r.(=) p.(=) g.19231756_19231758del Copied from the Exome Variant Server ABHD3_000006 10/12496 8/8246 2/4250
1 c.1058-4G>C r.spl? p.? g.19231728C>G Copied from the Exome Variant Server ABHD3_000005 1/13006 0/8600 1/4406
1 c.1112C>G r.(?) p.(Ser371Cys) g.19231670G>C Copied from the Exome Variant Server ABHD3_000004 2/13006 0/8600 2/4406
1 c.1143A>G r.(=) p.(=) g.19231639T>C Copied from the Exome Variant Server ABHD3_000003 1/13006 1/8600 0/4406
1 c.1169T>C r.(?) p.(Met390Thr) g.19231613A>G Copied from the Exome Variant Server ABHD3_000002 2/13006 1/8600 1/4406
1 c.1220A>T r.(?) p.(Glu407Val) g.19231562T>A Copied from the Exome Variant Server ABHD3_000001 1/13006 1/8600 0/4406
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