All transcript variants in gene COPS4

Information The variants shown are described using the NM_016129.2 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     
?/? c.-32G>T r.(=) p.(=) g.83956346G>T Copied from the Exome Variant Server COPS4_000001 2/13006 1/8600 1/4406
?/? c.-27C>T r.(=) p.(=) g.83956351C>T Copied from the Exome Variant Server COPS4_000002 1/13006 1/8600 0/4406
?/? c.11C>T r.(?) p.(Ala4Val) g.83956388C>T Copied from the Exome Variant Server COPS4_000003 4/13006 4/8600 0/4406
?/? c.12C>T r.(=) p.(=) g.83956389C>T Copied from the Exome Variant Server COPS4_000004 3/13006 0/8600 3/4406
?/? c.71G>T r.(?) p.(Gly24Val) g.83956448G>T Copied from the Exome Variant Server COPS4_000005 2/13006 0/8600 2/4406
?/? c.72C>A r.(=) p.(=) g.83956449C>A Copied from the Exome Variant Server COPS4_000006 1/13006 0/8600 1/4406
?/? c.74+21C>G r.(=) p.(=) g.83956472C>G Copied from the Exome Variant Server COPS4_000007 2/13004 2/8598 0/4406
?/? c.74+30A>G r.(=) p.(=) g.83956481A>G Copied from the Exome Variant Server COPS4_000008 9/13002 0/8596 9/4406
?/? c.74+37G>A r.(=) p.(=) g.83956488G>A Copied from the Exome Variant Server COPS4_000009 77/13000 0/8596 77/4404
?/? c.75-44A>T r.(=) p.(=) g.83966735A>T Copied from the Exome Variant Server COPS4_000010 1/13006 1/8600 0/4406
?/? c.75-26A>G r.(=) p.(=) g.83966753A>G Copied from the Exome Variant Server COPS4_000011 2/13006 0/8600 2/4406
?/? c.75-17A>G r.(=) p.(=) g.83966762A>G Copied from the Exome Variant Server COPS4_000012 2/13006 2/8600 0/4406
?/? c.154+34A>G r.(=) p.(=) g.83966892A>G Copied from the Exome Variant Server COPS4_000013 1/13006 0/8600 1/4406
?/? c.154+49C>G r.(=) p.(=) g.83966907C>G Copied from the Exome Variant Server COPS4_000014 1/13006 0/8600 1/4406
?/? c.155-34A>G r.(=) p.(=) g.83970285A>G Copied from the Exome Variant Server COPS4_000015 1/13000 1/8596 0/4404
?/? c.155-21_155-19del r.(=) p.(=) g.83970298_83970300del Copied from the Exome Variant Server COPS4_000016 8/12514 7/8248 1/4266
?/? c.155-20_155-19del r.(=) p.(=) g.83970299_83970300del Copied from the Exome Variant Server COPS4_000017 105/12514 30/8248 75/4266
?/? c.155-19del r.(=) p.(=) g.83970300del Copied from the Exome Variant Server COPS4_000019 1284/12514 720/8248 564/4266
?/? c.155-19dup r.(=) p.(=) g.83970300dup Copied from the Exome Variant Server COPS4_000018 1690/12514 1222/8248 468/4266
?/? c.155-16T>G r.(=) p.(=) g.83970303T>G Copied from the Exome Variant Server COPS4_000020 1/13006 0/8600 1/4406
?/? c.219T>C r.(=) p.(=) g.83970383T>C Copied from the Exome Variant Server COPS4_000021 4/13006 3/8600 1/4406
?/? c.306+2_306+3insA r.spl? p.? g.83970472_83970473insA Copied from the Exome Variant Server COPS4_000022 110/12510 97/8248 13/4262
?/? c.306+19G>A r.(=) p.(=) g.83970489G>A Copied from the Exome Variant Server COPS4_000023 1/13006 0/8600 1/4406
?/? c.306+49T>G r.(=) p.(=) g.83970519T>G Copied from the Exome Variant Server COPS4_000024 1/13002 1/8598 0/4404
?/? c.307-47T>A r.(=) p.(=) g.83970987T>A Copied from the Exome Variant Server COPS4_000025 3/12982 3/8596 0/4386
?/? c.410+38G>A r.(=) p.(=) g.83971175G>A Copied from the Exome Variant Server COPS4_000026 1/13000 0/8596 1/4404
?/? c.410+51G>A r.(=) p.(=) g.83971188G>A Copied from the Exome Variant Server COPS4_000027 1/12996 0/8596 1/4400
?/? c.411-8C>A r.(=) p.(=) g.83978071C>A Copied from the Exome Variant Server COPS4_000028 1/13006 1/8600 0/4406
?/? c.525G>A r.(=) p.(=) g.83978193G>A Copied from the Exome Variant Server COPS4_000029 4/13006 4/8600 0/4406
?/? c.565-43_565-42insT r.(=) p.(=) g.83978368_83978369insT Copied from the Exome Variant Server COPS4_000030 3/12506 0/8242 3/4264
?/? c.565-5G>A r.spl? p.? g.83978406G>A Copied from the Exome Variant Server COPS4_000031 1/13006 0/8600 1/4406
?/? c.567A>G r.(=) p.(=) g.83978413A>G Copied from the Exome Variant Server COPS4_000032 1/13006 1/8600 0/4406
?/? c.684T>C r.(=) p.(=) g.83978530T>C Copied from the Exome Variant Server COPS4_000033 1/13006 1/8600 0/4406
?/? c.715+6C>A r.(=) p.(=) g.83978567C>A Copied from the Exome Variant Server COPS4_000034 1/13006 0/8600 1/4406
?/? c.715+9G>A r.(=) p.(=) g.83978570G>A Copied from the Exome Variant Server COPS4_000035 1/13006 1/8600 0/4406
?/? c.715+19A>C r.(=) p.(=) g.83978580A>C Copied from the Exome Variant Server COPS4_000036 56/13004 53/8600 3/4404
?/? c.715+27A>G r.(=) p.(=) g.83978588A>G Copied from the Exome Variant Server COPS4_000037 1/13004 0/8600 1/4404
?/? c.715+31_715+32del r.(=) p.(=) g.83978592_83978593del Copied from the Exome Variant Server COPS4_000038 1/12518 1/8254 0/4264
?/? c.716-3T>C r.spl? p.? g.83984226T>C Copied from the Exome Variant Server COPS4_000039 7/13006 1/8600 6/4406
?/? c.834T>C r.(=) p.(=) g.83984347T>C Copied from the Exome Variant Server COPS4_000040 1/13006 1/8600 0/4406
?/? c.856A>C r.(?) p.(Met286Leu) g.83984369A>C Copied from the Exome Variant Server COPS4_000041 2/13006 0/8600 2/4406
?/? c.873A>G r.(=) p.(=) g.83984386A>G Copied from the Exome Variant Server COPS4_000042 2/13006 0/8600 2/4406
?/? c.886+9C>T r.(=) p.(=) g.83984408C>T Copied from the Exome Variant Server COPS4_000043 1/13006 0/8600 1/4406
?/? c.886+34A>G r.(=) p.(=) g.83984433A>G Copied from the Exome Variant Server COPS4_000044 2285/13006 1637/8600 648/4406
?/? c.886+43G>A r.(=) p.(=) g.83984442G>A Copied from the Exome Variant Server COPS4_000045 5/13006 5/8600 0/4406
?/? c.886+47A>C r.(=) p.(=) g.83984446A>C Copied from the Exome Variant Server COPS4_000046 2/13006 2/8600 0/4406
?/? c.887-38C>G r.(=) p.(=) g.83987553C>G Copied from the Exome Variant Server COPS4_000047 18/12996 0/8590 18/4406
?/? c.897C>T r.(=) p.(=) g.83987601C>T Copied from the Exome Variant Server COPS4_000048 1/12998 0/8592 1/4406
?/? c.964G>C r.(?) p.(Glu322Gln) g.83987668G>C Copied from the Exome Variant Server COPS4_000049 3/12992 3/8592 0/4400
?/? c.1002+23T>C r.(=) p.(=) g.83987729T>C Copied from the Exome Variant Server COPS4_000050 3/12900 3/8560 0/4340
?/? c.1003-41G>T r.(=) p.(=) g.83989550G>T Copied from the Exome Variant Server COPS4_000051 1/12994 1/8594 0/4400
?/? c.1003-37T>A r.(=) p.(=) g.83989554T>A Copied from the Exome Variant Server COPS4_000052 1/12996 0/8594 1/4402
?/? c.1003-19_1003-18del r.(=) p.(=) g.83989572_83989573del Copied from the Exome Variant Server COPS4_000053 18/12512 12/8246 6/4266
?/? c.1003-19_1003-18dup r.(=) p.(=) g.83989572_83989573dup Copied from the Exome Variant Server COPS4_000054 14/12512 10/8246 4/4266
?/? c.1003-18del r.(=) p.(=) g.83989573del Copied from the Exome Variant Server COPS4_000056 35/12512 18/8246 17/4266
?/? c.1003-18dup r.(=) p.(=) g.83989573dup Copied from the Exome Variant Server COPS4_000055 3227/12512 1999/8246 1228/4266
?/? c.1056T>C r.(=) p.(=) g.83989644T>C Copied from the Exome Variant Server COPS4_000057 1/13004 0/8598 1/4406
?/? c.1087+50A>T r.(=) p.(=) g.83989725A>T Copied from the Exome Variant Server COPS4_000058 1/13002 0/8596 1/4406
?/? c.1087+51T>C r.(=) p.(=) g.83989726T>C Copied from the Exome Variant Server COPS4_000059 1/13002 1/8596 0/4406
?/? c.1088-50T>C r.(=) p.(=) g.83996400T>C Copied from the Exome Variant Server COPS4_000060 1/13000 0/8600 1/4400
?/? c.1088-40A>C r.(=) p.(=) g.83996410A>C Copied from the Exome Variant Server COPS4_000061 1/13000 0/8600 1/4400
?/? c.1088-20T>G r.(=) p.(=) g.83996430T>G Copied from the Exome Variant Server COPS4_000062 1/13006 1/8600 0/4406
?/? c.1088-16del r.(=) p.(=) g.83996434del Copied from the Exome Variant Server COPS4_000064 43/12520 21/8254 22/4266
?/? c.1088-16dup r.(=) p.(=) g.83996434dup Copied from the Exome Variant Server COPS4_000063 19/12520 1/8254 18/4266
?/? c.1107G>A r.(=) p.(=) g.83996469G>A Copied from the Exome Variant Server COPS4_000065 56/13006 53/8600 3/4406
?/? c.1203A>G r.(=) p.(=) g.83996565A>G Copied from the Exome Variant Server COPS4_000066 2/13006 0/8600 2/4406
?/? c.*21C>T r.(=) p.(=) g.83996604C>T Copied from the Exome Variant Server COPS4_000067 19/13006 0/8600 19/4406
?/? c.*29A>G r.(=) p.(=) g.83996612A>G Copied from the Exome Variant Server COPS4_000068 1/13006 0/8600 1/4406
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