All transcript variants in gene CASP7

Information The variants shown are described using the NM_033338.5 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-8-43G>A r.(=) p.(=) g.115451680G>A Copied from the Exome Variant Server CASP7_000007 38/13002 9/8598 29/4404
?/? c.-8-32C>T r.(=) p.(=) g.115451691C>T Copied from the Exome Variant Server CASP7_000009 1/13006 1/8600 0/4406
?/? c.-8-31C>T r.(=) p.(=) g.115451692C>T Copied from the Exome Variant Server CASP7_000001 3/13006 3/8600 0/4406
?/? c.-8-27C>A r.(=) p.(=) g.115451696C>A Copied from the Exome Variant Server CASP7_000002 1/13006 1/8600 0/4406
?/? c.11T>C r.(?) p.(Val4Ala) g.115451741T>C Copied from the Exome Variant Server CASP7_000003 1/13006 1/8600 0/4406
?/? c.51C>T r.(=) p.(=) g.115451781C>T Copied from the Exome Variant Server CASP7_000004 1152/13006 990/8600 162/4406
?/? c.60C>T r.(=) p.(=) g.115451790C>T Copied from the Exome Variant Server CASP7_000005 1/13006 0/8600 1/4406
?/? c.61G>A r.(?) p.(Gly21Ser) g.115451791G>A Copied from the Exome Variant Server CASP7_000006 1/13006 0/8600 1/4406
?/? c.99+5G>T r.spl? p.? g.115451834G>T Copied from the Exome Variant Server CASP7_000008 2/13006 0/8600 2/4406
?/? c.99+9C>T r.(=) p.(=) g.115451838C>T Copied from the Exome Variant Server CASP7_000010 4/13006 0/8600 4/4406
?/? c.99+29C>T r.(=) p.(=) g.115451858C>T Copied from the Exome Variant Server CASP7_000011 1/13006 1/8600 0/4406
?/? c.100-26T>C r.(=) p.(=) g.115457227T>C Copied from the Exome Variant Server CASP7_000012 2/13006 2/8600 0/4406
?/? c.100-13T>C r.(=) p.(=) g.115457240T>C Copied from the Exome Variant Server CASP7_000013 1/13006 0/8600 1/4406
?/? c.100-10C>G r.(=) p.(=) g.115457243C>G Copied from the Exome Variant Server CASP7_000014 1/13006 1/8600 0/4406
?/? c.111T>G r.(?) p.(Asp37Glu) g.115457264T>G Copied from the Exome Variant Server CASP7_000015 1434/13006 892/8600 542/4406
?/? c.134G>A r.(?) p.(Gly45Glu) g.115457287G>A Copied from the Exome Variant Server CASP7_000016 14/13006 0/8600 14/4406
?/? c.143A>T r.(?) p.(Asp48Val) g.115457296A>T Copied from the Exome Variant Server CASP7_000017 1/13006 1/8600 0/4406
?/? c.181C>T r.(?) p.(Arg61Trp) g.115457334C>T Copied from the Exome Variant Server CASP7_000018 2/13006 2/8600 0/4406
?/? c.182G>A r.(?) p.(Arg61Gln) g.115457335G>A Copied from the Exome Variant Server CASP7_000019 1/13006 1/8600 0/4406
?/? c.209+25T>C r.(=) p.(=) g.115457387T>C Copied from the Exome Variant Server CASP7_000020 6/13006 5/8600 1/4406
?/? c.209+32C>T r.(=) p.(=) g.115457394C>T Copied from the Exome Variant Server CASP7_000021 1/13006 1/8600 0/4406
?/? c.209+33G>A r.(=) p.(=) g.115457395G>A Copied from the Exome Variant Server CASP7_000022 13/13006 11/8600 2/4406
?/? c.210-34C>T r.(=) p.(=) g.115480757C>T Copied from the Exome Variant Server CASP7_000023 359/13006 2/8600 357/4406
?/? c.210-3C>T r.spl? p.? g.115480788C>T Copied from the Exome Variant Server CASP7_000024 41/13006 37/8600 4/4406
?/? c.236G>A r.(?) p.(Arg79Gln) g.115480817G>A Copied from the Exome Variant Server CASP7_000025 2/13006 1/8600 1/4406
?/? c.267T>C r.(=) p.(=) g.115480848T>C Copied from the Exome Variant Server CASP7_000026 1/13006 1/8600 0/4406
?/? c.300G>A r.(=) p.(=) g.115480881G>A Copied from the Exome Variant Server CASP7_000027 1/13006 0/8600 1/4406
?/? c.346+9G>A r.(=) p.(=) g.115480936G>A Copied from the Exome Variant Server CASP7_000028 359/13006 2/8600 357/4406
?/? c.346+22C>T r.(=) p.(=) g.115480949C>T Copied from the Exome Variant Server CASP7_000029 1/13006 0/8600 1/4406
?/? c.346+25C>G r.(=) p.(=) g.115480952C>G Copied from the Exome Variant Server CASP7_000030 1/13006 0/8600 1/4406
?/? c.346+30C>T r.(=) p.(=) g.115480957C>T Copied from the Exome Variant Server CASP7_000031 1/13006 0/8600 1/4406
?/? c.346+31G>A r.(=) p.(=) g.115480958G>A Copied from the Exome Variant Server CASP7_000032 66/13006 59/8600 7/4406
?/? c.346+35C>T r.(=) p.(=) g.115480962C>T Copied from the Exome Variant Server CASP7_000033 1/13006 1/8600 0/4406
?/? c.346+47_346+49del r.(=) p.(=) g.115480974_115480976del Copied from the Exome Variant Server CASP7_000034 1/12518 1/8254 0/4264
?/? c.347-44G>C r.(=) p.(=) g.115481366G>C Copied from the Exome Variant Server CASP7_000035 1/13006 0/8600 1/4406
?/? c.347-14C>T r.(=) p.(=) g.115481396C>T Copied from the Exome Variant Server CASP7_000036 2/13006 1/8600 1/4406
?/? c.355G>A r.(?) p.(Val119Ile) g.115481418G>A Copied from the Exome Variant Server CASP7_000037 2/13006 2/8600 0/4406
?/? c.381C>T r.(=) p.(=) g.115481444C>T Copied from the Exome Variant Server CASP7_000038 1/13006 0/8600 1/4406
?/? c.387G>A r.(=) p.(=) g.115481450G>A Copied from the Exome Variant Server CASP7_000039 1/13006 0/8600 1/4406
?/? c.393C>G r.(?) p.(Phe131Leu) g.115481456C>G Copied from the Exome Variant Server CASP7_000040 1/13006 1/8600 0/4406
?/? c.404G>A r.(?) p.(Arg135Gln) g.115481467G>A Copied from the Exome Variant Server CASP7_000041 8/13006 0/8600 8/4406
?/? c.408C>T r.(=) p.(=) g.115481471C>T Copied from the Exome Variant Server CASP7_000042 103/13006 0/8600 103/4406
?/? c.435T>C r.(=) p.(=) g.115481498T>C Copied from the Exome Variant Server CASP7_000043 1/13006 1/8600 0/4406
?/? c.462T>G r.(?) p.(Asp154Glu) g.115481525T>G Copied from the Exome Variant Server CASP7_000044 1/13006 1/8600 0/4406
?/? c.465G>A r.(=) p.(=) g.115481528G>A Copied from the Exome Variant Server CASP7_000045 73/13006 0/8600 73/4406
?/? c.475+30C>A r.(=) p.(=) g.115481568C>A Copied from the Exome Variant Server CASP7_000046 1/13006 1/8600 0/4406
?/? c.475+40C>G r.(=) p.(=) g.115481578C>G Copied from the Exome Variant Server CASP7_000047 3/13006 3/8600 0/4406
?/? c.476-23A>G r.(=) p.(=) g.115485098A>G Copied from the Exome Variant Server CASP7_000048 2/13006 2/8600 0/4406
?/? c.500C>G r.(?) p.(Ala167Gly) g.115485145C>G Copied from the Exome Variant Server CASP7_000050 1/13006 0/8600 1/4406
?/? c.522C>G r.(=) p.(=) g.115485167C>G Copied from the Exome Variant Server CASP7_000052 1/13006 1/8600 0/4406
?/? c.590C>T r.(?) p.(Ala197Val) g.115485235C>T Copied from the Exome Variant Server CASP7_000054 2/13006 2/8600 0/4406
?/? c.594C>T r.(=) p.(=) g.115485239C>T Copied from the Exome Variant Server CASP7_000056 112/13006 2/8600 110/4406
?/? c.600G>A r.(=) p.(=) g.115485245G>A Copied from the Exome Variant Server CASP7_000049 2/13006 2/8600 0/4406
?/? c.633C>T r.(=) p.(=) g.115485278C>T Copied from the Exome Variant Server CASP7_000051 37/13006 0/8600 37/4406
?/? c.640T>C r.(?) p.(Phe214Leu) g.115485285T>C Copied from the Exome Variant Server CASP7_000053 31/13006 29/8600 2/4406
?/? c.651+40A>G r.(=) p.(=) g.115485336A>G Copied from the Exome Variant Server CASP7_000055 3/13004 2/8600 1/4404
?/? c.651+262del r.(=) p.(=) g.115485558del Copied from the Exome Variant Server CASP7_000058 146/2960 93/1952 53/1008
?/? c.651+262dup r.(=) p.(=) g.115485558dup Copied from the Exome Variant Server CASP7_000057 164/2960 115/1952 49/1008
?/? c.652-50G>A r.(=) p.(=) g.115486014G>A Copied from the Exome Variant Server CASP7_000059 1/13006 1/8600 0/4406
?/? c.652-36C>G r.(=) p.(=) g.115486028C>G Copied from the Exome Variant Server CASP7_000060 25/13006 22/8600 3/4406
?/? c.652-20A>G r.(=) p.(=) g.115486044A>G Copied from the Exome Variant Server CASP7_000061 1/13006 0/8600 1/4406
?/? c.658C>T r.(?) p.(Arg220*) g.115486070C>T Copied from the Exome Variant Server CASP7_000062 1/13006 0/8600 1/4406
?/? c.659G>A r.(?) p.(Arg220Gln) g.115486071G>A Copied from the Exome Variant Server CASP7_000063 1/13006 1/8600 0/4406
?/? c.687G>A r.(=) p.(=) g.115486099G>A Copied from the Exome Variant Server CASP7_000064 1/13006 1/8600 0/4406
?/? c.695C>T r.(?) p.(Ser232Leu) g.115486107C>T Copied from the Exome Variant Server CASP7_000065 1/13006 0/8600 1/4406
?/? c.696G>A r.(=) p.(=) g.115486108G>A Copied from the Exome Variant Server CASP7_000066 1/13006 1/8600 0/4406
?/? c.703A>G r.(?) p.(Ile235Val) g.115486115A>G Copied from the Exome Variant Server CASP7_000067 1/13006 1/8600 0/4406
?/? c.728G>A r.(?) p.(Arg243Gln) g.115486140G>A Copied from the Exome Variant Server CASP7_000068 1/13006 1/8600 0/4406
?/? c.779C>T r.(?) p.(Pro260Leu) g.115486191C>T Copied from the Exome Variant Server CASP7_000069 5/13006 0/8600 5/4406
?/? c.781+19G>A r.(=) p.(=) g.115486212G>A Copied from the Exome Variant Server CASP7_000070 3/13006 3/8600 0/4406
?/? c.781+41C>T r.(=) p.(=) g.115486234C>T Copied from the Exome Variant Server CASP7_000071 3/13006 3/8600 0/4406
?/? c.781+42C>T r.(=) p.(=) g.115486235C>T Copied from the Exome Variant Server CASP7_000072 1/13006 0/8600 1/4406
?/? c.782-23G>A r.(=) p.(=) g.115489047G>A Copied from the Exome Variant Server CASP7_000073 43/13006 0/8600 43/4406
?/? c.782-13T>C r.(=) p.(=) g.115489057T>C Copied from the Exome Variant Server CASP7_000074 34/13006 0/8600 34/4406
?/? c.792G>A r.(=) p.(=) g.115489080G>A Copied from the Exome Variant Server CASP7_000075 172/13006 2/8600 170/4406
?/? c.799A>C r.(?) p.(Ser267Arg) g.115489087A>C Copied from the Exome Variant Server CASP7_000076 3/13006 3/8600 0/4406
?/? c.864C>G r.(?) p.(Asp288Glu) g.115489152C>G Copied from the Exome Variant Server CASP7_000077 2810/13006 2172/8600 638/4406
?/? c.879G>A r.(=) p.(=) g.115489167G>A Copied from the Exome Variant Server CASP7_000078 2825/13006 2173/8600 652/4406
?/? c.889A>G r.(?) p.(Arg297Gly) g.115489177A>G Copied from the Exome Variant Server CASP7_000079 4/13006 4/8600 0/4406
?/? c.899A>C r.(?) p.(Asp300Ala) g.115489187A>C Copied from the Exome Variant Server CASP7_000080 7/13006 7/8600 0/4406
?/? c.927G>A r.(=) p.(=) g.115489215G>A Copied from the Exome Variant Server CASP7_000081 1/13006 0/8600 1/4406
?/? c.939A>G r.(=) p.(=) g.115489227A>G Copied from the Exome Variant Server CASP7_000082 3/13006 2/8600 1/4406
?/? c.947A>G r.(?) p.(His316Arg) g.115489235A>G Copied from the Exome Variant Server CASP7_000083 1/13006 1/8600 0/4406
?/? c.966C>T r.(=) p.(=) g.115489254C>T Copied from the Exome Variant Server CASP7_000084 13/13006 10/8600 3/4406
?/? c.1008A>G r.(=) p.(=) g.115489296A>G Copied from the Exome Variant Server CASP7_000085 3/13006 3/8600 0/4406
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