Unique variants in gene SETBP1

Information The variants shown are described using the NM_001130110.1 transcript reference sequence.

135 entries on 2 pages. Showing entries 1 - 100.
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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.144C>T r.(=) p.(=) g.42281455C>T Copied from the Exome Variant Server SETBP1_000001 1/13006 1/8600 0/4406
1 c.148G>A r.(?) p.(Val50Met) g.42281459G>A Copied from the Exome Variant Server SETBP1_000002 1/13006 0/8600 1/4406
1 c.153C>T r.(=) p.(=) g.42281464C>T Copied from the Exome Variant Server SETBP1_000003 3/13006 3/8600 0/4406
1 c.155G>A r.(?) p.(Gly52Glu) g.42281466G>A Copied from the Exome Variant Server SETBP1_000004 1/13006 0/8600 1/4406
1 c.161G>A r.(?) p.(Arg54His) g.42281472G>A Copied from the Exome Variant Server SETBP1_000005 3/13006 0/8600 3/4406
1 c.171A>G r.(=) p.(=) g.42281482A>G Copied from the Exome Variant Server SETBP1_000006 1/13006 1/8600 0/4406
1 c.210T>G r.(?) p.(Asp70Glu) g.42281521T>G Copied from the Exome Variant Server SETBP1_000007 1/13006 1/8600 0/4406
1 c.222C>T r.(=) p.(=) g.42281533C>T Copied from the Exome Variant Server SETBP1_000008 1/13006 0/8600 1/4406
1 c.225G>A r.(=) p.(=) g.42281536G>A Copied from the Exome Variant Server SETBP1_000009 1/13006 0/8600 1/4406
1 c.288A>G r.(=) p.(=) g.42281599A>G Copied from the Exome Variant Server SETBP1_000010 1/13006 1/8600 0/4406
1 c.330A>G r.(=) p.(=) g.42281641A>G Copied from the Exome Variant Server SETBP1_000011 1/13006 0/8600 1/4406
1 c.412G>T r.(?) p.(Asp138Tyr) g.42281723G>T Copied from the Exome Variant Server SETBP1_000012 4/13006 0/8600 4/4406
1 c.474C>T r.(=) p.(=) g.42281785C>T Copied from the Exome Variant Server SETBP1_000013 1/12942 0/8560 1/4382
1 c.486+61739A>T r.(=) p.(=) g.42343536A>T Copied from the Exome Variant Server SETBP1_000014 744/4566 640/3182 104/1384
1 c.486+61768G>A r.(=) p.(=) g.42343565G>A Copied from the Exome Variant Server SETBP1_000015 1/4566 1/3182 0/1384
1 c.486+61803C>T r.(=) p.(=) g.42343600C>T Copied from the Exome Variant Server SETBP1_000016 323/4566 215/3182 108/1384
1 c.486+61951G>A r.(=) p.(=) g.42343748G>A Copied from the Exome Variant Server SETBP1_000017 17/4566 14/3182 3/1384
1 c.486+61953C>T r.(=) p.(=) g.42343750C>T Copied from the Exome Variant Server SETBP1_000018 207/4566 93/3182 114/1384
1 c.486+70246A>G r.(=) p.(=) g.42352043A>G Copied from the Exome Variant Server SETBP1_000019 4/4566 0/3182 4/1384
1 c.486+70275G>T r.(=) p.(=) g.42352072G>T Copied from the Exome Variant Server SETBP1_000020 1/4566 1/3182 0/1384
1 c.486+74417C>T r.(=) p.(=) g.42356214C>T Copied from the Exome Variant Server SETBP1_000021 2/4566 1/3182 1/1384
1 c.486+74418G>A r.(=) p.(=) g.42356215G>A Copied from the Exome Variant Server SETBP1_000022 322/4566 213/3182 109/1384
1 c.486+74514C>T r.(=) p.(=) g.42356311C>T Copied from the Exome Variant Server SETBP1_000023 1/4564 0/3182 1/1382
1 c.486+76741T>C r.(=) p.(=) g.42358538T>C Copied from the Exome Variant Server SETBP1_000024 3/4566 0/3182 3/1384
1 c.486+76827T>C r.(=) p.(=) g.42358624T>C Copied from the Exome Variant Server SETBP1_000025 1/4566 1/3182 0/1384
1 c.486+76898_486+76900del r.(=) p.(=) g.42358695_42358697del Copied from the Exome Variant Server SETBP1_000026 12/6524 12/4288 0/2236
1 c.486+76901G>A r.(=) p.(=) g.42358698G>A Copied from the Exome Variant Server SETBP1_000027 508/4566 474/3182 34/1384
1 c.486+76913G>T r.(=) p.(=) g.42358710G>T Copied from the Exome Variant Server SETBP1_000028 63/4566 3/3182 60/1384
1 c.486+76933G>A r.(=) p.(=) g.42358730G>A Copied from the Exome Variant Server SETBP1_000029 1/4566 0/3182 1/1384
1 c.486+76976G>A r.(=) p.(=) g.42358773G>A Copied from the Exome Variant Server SETBP1_000030 1/4566 0/3182 1/1384
1 c.486+77000A>C r.(=) p.(=) g.42358797A>C Copied from the Exome Variant Server SETBP1_000031 3543/4566 2536/3182 1007/1384
1 c.486+77097_486+77103del r.(=) p.(=) g.42358894_42358900del Copied from the Exome Variant Server SETBP1_000032 4714/6370 3188/4128 1526/2242
1 c.486+77101_486+77107del r.(=) p.(=) g.42358898_42358904del Copied from the Exome Variant Server SETBP1_000033 4801/6484 3252/4202 1549/2282
1 c.486+81521T>G r.(=) p.(=) g.42363318T>G Copied from the Exome Variant Server SETBP1_000034 8/4566 0/3182 8/1384
1 c.487-82076A>G r.(=) p.(=) g.42367119A>G Copied from the Exome Variant Server SETBP1_000035 1/4566 0/3182 1/1384
1 c.487-82040G>A r.(=) p.(=) g.42367155G>A Copied from the Exome Variant Server SETBP1_000036 12/4566 12/3182 0/1384
1 c.487-81957A>T r.(=) p.(=) g.42367238A>T Copied from the Exome Variant Server SETBP1_000037 17/4566 0/3182 17/1384
1 c.487-80789G>A r.(=) p.(=) g.42368406G>A Copied from the Exome Variant Server SETBP1_000038 1/4566 1/3182 0/1384
1 c.487-80782A>G r.(=) p.(=) g.42368413A>G Copied from the Exome Variant Server SETBP1_000039 10/4566 9/3182 1/1384
1 c.487-77049A>G r.(=) p.(=) g.42372146A>G Copied from the Exome Variant Server SETBP1_000040 24/4566 1/3182 23/1384
1 c.487-77042G>A r.(=) p.(=) g.42372153G>A Copied from the Exome Variant Server SETBP1_000041 34/4566 1/3182 33/1384
1 c.487-76996G>A r.(=) p.(=) g.42372199G>A Copied from the Exome Variant Server SETBP1_000042 1/4566 0/3182 1/1384
1 c.487-76968G>T r.(=) p.(=) g.42372227G>T Copied from the Exome Variant Server SETBP1_000043 12/4566 0/3182 12/1384
1 c.487-76949G>A r.(=) p.(=) g.42372246G>A Copied from the Exome Variant Server SETBP1_000044 2/4566 0/3182 2/1384
1 c.487-76856A>G r.(=) p.(=) g.42372339A>G Copied from the Exome Variant Server SETBP1_000045 1/4566 1/3182 0/1384
1 c.487-73464G>A r.(=) p.(=) g.42375731G>A Copied from the Exome Variant Server SETBP1_000046 1/4566 0/3182 1/1384
1 c.487-73449A>G r.(=) p.(=) g.42375746A>G Copied from the Exome Variant Server SETBP1_000047 4/4566 4/3182 0/1384
1 c.487-73447A>G r.(=) p.(=) g.42375748A>G Copied from the Exome Variant Server SETBP1_000048 1/4566 1/3182 0/1384
1 c.487-73408del r.(=) p.(=) g.42375787del Copied from the Exome Variant Server SETBP1_000049 53/6150 48/4036 5/2114
1 c.487-73350C>T r.(=) p.(=) g.42375845C>T Copied from the Exome Variant Server SETBP1_000050 3/4566 3/3182 0/1384
1 c.487-73316T>A r.(=) p.(=) g.42375879T>A Copied from the Exome Variant Server SETBP1_000051 2/4566 0/3182 2/1384
1 c.487-72541C>G r.(=) p.(=) g.42376654C>G Copied from the Exome Variant Server SETBP1_000052 1/4566 1/3182 0/1384
1 c.487-72419_487-72418del r.(=) p.(=) g.42376776_42376777del Copied from the Exome Variant Server SETBP1_000053 17/7262 13/4674 4/2588
1 c.487-72409G>A r.(=) p.(=) g.42376786G>A Copied from the Exome Variant Server SETBP1_000054 1/4566 1/3182 0/1384
1 c.487-72408C>T r.(=) p.(=) g.42376787C>T Copied from the Exome Variant Server SETBP1_000055 1/4566 0/3182 1/1384
1 c.487-69888G>A r.(=) p.(=) g.42379307G>A Copied from the Exome Variant Server SETBP1_000056 1/4566 0/3182 1/1384
1 c.487-57914C>T r.(=) p.(=) g.42391281C>T Copied from the Exome Variant Server SETBP1_000057 2/4566 2/3182 0/1384
1 c.487-57906C>T r.(=) p.(=) g.42391289C>T Copied from the Exome Variant Server SETBP1_000058 1/4566 1/3182 0/1384
1 c.487-57883T>C r.(=) p.(=) g.42391312T>C Copied from the Exome Variant Server SETBP1_000059 16/4566 0/3182 16/1384
1 c.487-57871G>A r.(=) p.(=) g.42391324G>A Copied from the Exome Variant Server SETBP1_000060 1/4566 1/3182 0/1384
1 c.487-57844T>C r.(=) p.(=) g.42391351T>C Copied from the Exome Variant Server SETBP1_000061 1/4566 1/3182 0/1384
1 c.487-57746A>T r.(=) p.(=) g.42391449A>T Copied from the Exome Variant Server SETBP1_000062 1/4566 1/3182 0/1384
1 c.487-55657G>A r.(=) p.(=) g.42393538G>A Copied from the Exome Variant Server SETBP1_000063 1/4566 1/3182 0/1384
1 c.487-55642A>G r.(=) p.(=) g.42393553A>G Copied from the Exome Variant Server SETBP1_000064 18/4566 5/3182 13/1384
1 c.487-55607A>G r.(=) p.(=) g.42393588A>G Copied from the Exome Variant Server SETBP1_000065 8/4566 0/3182 8/1384
1 c.487-55586C>T r.(=) p.(=) g.42393609C>T Copied from the Exome Variant Server SETBP1_000066 22/4566 21/3182 1/1384
1 c.487-55177A>G r.(=) p.(=) g.42394018A>G Copied from the Exome Variant Server SETBP1_000067 208/4566 8/3182 200/1384
1 c.487-55107T>C r.(=) p.(=) g.42394088T>C Copied from the Exome Variant Server SETBP1_000068 2/4566 2/3182 0/1384
1 c.487-55083G>A r.(=) p.(=) g.42394112G>A Copied from the Exome Variant Server SETBP1_000069 2/4566 0/3182 2/1384
1 c.487-55061G>A r.(=) p.(=) g.42394134G>A Copied from the Exome Variant Server SETBP1_000070 1/4566 1/3182 0/1384
1 c.487-54962A>G r.(=) p.(=) g.42394233A>G Copied from the Exome Variant Server SETBP1_000071 1/4566 1/3182 0/1384
1 c.487-54943T>C r.(=) p.(=) g.42394252T>C Copied from the Exome Variant Server SETBP1_000072 1/4566 1/3182 0/1384
1 c.487-54936del r.(=) p.(=) g.42394259del Copied from the Exome Variant Server SETBP1_000073 1/6428 1/4274 0/2154
1 c.487-54917G>A r.(=) p.(=) g.42394278G>A Copied from the Exome Variant Server SETBP1_000074 14/4566 13/3182 1/1384
1 c.487-54883A>G r.(=) p.(=) g.42394312A>G Copied from the Exome Variant Server SETBP1_000075 2/4566 2/3182 0/1384
1 c.487-54814A>T r.(=) p.(=) g.42394381A>T Copied from the Exome Variant Server SETBP1_000076 656/4566 210/3182 446/1384
1 c.487-52201C>A r.(=) p.(=) g.42396994C>A Copied from the Exome Variant Server SETBP1_000077 1/4566 1/3182 0/1384
1 c.487-52183C>T r.(=) p.(=) g.42397012C>T Copied from the Exome Variant Server SETBP1_000078 4/4566 0/3182 4/1384
1 c.487-52095T>C r.(=) p.(=) g.42397100T>C Copied from the Exome Variant Server SETBP1_000079 1/4566 1/3182 0/1384
1 c.487-52021G>A r.(=) p.(=) g.42397174G>A Copied from the Exome Variant Server SETBP1_000080 1/4566 1/3182 0/1384
1 c.487-48961_487-48960insT r.(=) p.(=) g.42400234_42400235insT Copied from the Exome Variant Server SETBP1_000081 5/6836 1/4424 4/2412
1 c.487-48952A>G r.(=) p.(=) g.42400243A>G Copied from the Exome Variant Server SETBP1_000082 224/4566 9/3182 215/1384
1 c.487-48929G>A r.(=) p.(=) g.42400266G>A Copied from the Exome Variant Server SETBP1_000083 41/4566 1/3182 40/1384
1 c.487-48919T>C r.(=) p.(=) g.42400276T>C Copied from the Exome Variant Server SETBP1_000084 1/4566 1/3182 0/1384
1 c.487-48886A>C r.(=) p.(=) g.42400309A>C Copied from the Exome Variant Server SETBP1_000085 68/4566 63/3182 5/1384
1 c.487-48851A>G r.(=) p.(=) g.42400344A>G Copied from the Exome Variant Server SETBP1_000086 224/4566 9/3182 215/1384
1 c.487-48768A>G r.(=) p.(=) g.42400427A>G Copied from the Exome Variant Server SETBP1_000087 1/4566 1/3182 0/1384
1 c.487-45825_487-45824insT r.(=) p.(=) g.42403370_42403371insT Copied from the Exome Variant Server SETBP1_000088 1/6038 1/4054 0/1984
1 c.487-45748C>G r.(=) p.(=) g.42403447C>G Copied from the Exome Variant Server SETBP1_000089 4/4566 4/3182 0/1384
1 c.487-45680G>A r.(=) p.(=) g.42403515G>A Copied from the Exome Variant Server SETBP1_000090 3/4566 3/3182 0/1384
1 c.487-43117G>A r.(=) p.(=) g.42406078G>A Copied from the Exome Variant Server SETBP1_000091 440/4566 215/3182 225/1384
1 c.487-37544A>G r.(=) p.(=) g.42411651A>G Copied from the Exome Variant Server SETBP1_000092 242/4566 220/3182 22/1384
1 c.487-37534A>G r.(=) p.(=) g.42411661A>G Copied from the Exome Variant Server SETBP1_000093 195/4566 3/3182 192/1384
1 c.487-37516A>G r.(=) p.(=) g.42411679A>G Copied from the Exome Variant Server SETBP1_000094 1/4566 1/3182 0/1384
1 c.487-37392G>C r.(=) p.(=) g.42411803G>C Copied from the Exome Variant Server SETBP1_000095 658/4566 227/3182 431/1384
1 c.487-35643del r.(=) p.(=) g.42413552del Copied from the Exome Variant Server SETBP1_000096 9/7094 4/4634 5/2460
1 c.487-35628G>T r.(=) p.(=) g.42413567G>T Copied from the Exome Variant Server SETBP1_000097 3/4566 3/3182 0/1384
1 c.487-35615G>A r.(=) p.(=) g.42413580G>A Copied from the Exome Variant Server SETBP1_000098 1/4566 0/3182 1/1384
1 c.487-35588G>T r.(=) p.(=) g.42413607G>T Copied from the Exome Variant Server SETBP1_000099 1/4566 1/3182 0/1384
1 c.487-35465C>A r.(=) p.(=) g.42413730C>A Copied from the Exome Variant Server SETBP1_000100 4/4566 4/3182 0/1384
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