Unique variants in gene BEND2

Information The variants shown are described using the NM_153346.4 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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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.-1G>C r.(=) p.(=) g.18238871C>G Copied from the Exome Variant Server BEND2_000092 189/10563 0/6728 189/3835
1 c.25+8G>A r.(=) p.(=) g.18238838C>T Copied from the Exome Variant Server BEND2_000091 6/10563 0/6728 6/3835
1 c.25+43A>G r.(=) p.(=) g.18238803T>C Copied from the Exome Variant Server BEND2_000090 1/10563 1/6728 0/3835
1 c.45C>T r.(=) p.(=) g.18234834G>A Copied from the Exome Variant Server BEND2_000089 49/10563 0/6728 49/3835
1 c.205G>C r.(?) p.(Asp69His) g.18234674C>G Copied from the Exome Variant Server BEND2_000088 1/10563 1/6728 0/3835
1 c.376+25_376+26insTTTTTA r.(=) p.(=) g.18231868_18231869insTAAAAA Copied from the Exome Variant Server BEND2_000087 28/761 19/444 9/317
1 c.462T>G r.(?) p.(Phe154Leu) g.18230715A>C Copied from the Exome Variant Server BEND2_000086 2031/10563 1295/6728 736/3835
1 c.493-44C>T r.(=) p.(=) g.18222079G>A Copied from the Exome Variant Server BEND2_000085 8/10563 8/6728 0/3835
1 c.497A>G r.(?) p.(Gln166Arg) g.18222031T>C Copied from the Exome Variant Server BEND2_000084 2/10563 2/6728 0/3835
1 c.505A>G r.(?) p.(Ile169Val) g.18222023T>C Copied from the Exome Variant Server BEND2_000083 12/10563 0/6728 12/3835
1 c.548G>T r.(?) p.(Ser183Ile) g.18221980C>A Copied from the Exome Variant Server BEND2_000082 269/10563 1/6728 268/3835
1 c.586G>A r.(?) p.(Glu196Lys) g.18221942C>T Copied from the Exome Variant Server BEND2_000081 50/10563 49/6728 1/3835
1 c.594G>T r.(?) p.(Gln198His) g.18221934C>A Copied from the Exome Variant Server BEND2_000080 107/10563 0/6728 107/3835
1 c.677C>A r.(?) p.(Ser226*) g.18221851G>T Copied from the Exome Variant Server BEND2_000079 1/10563 1/6728 0/3835
1 c.755A>G r.(?) p.(Asn252Ser) g.18221773T>C Copied from the Exome Variant Server BEND2_000078 1/10563 1/6728 0/3835
1 c.782T>G r.(?) p.(Val261Gly) g.18221746A>C Copied from the Exome Variant Server BEND2_000077 267/10563 1/6728 266/3835
1 c.791G>A r.(?) p.(Arg264Gln) g.18221737C>T Copied from the Exome Variant Server BEND2_000076 3/10563 0/6728 3/3835
1 c.811A>G r.(?) p.(Asn271Asp) g.18221717T>C Copied from the Exome Variant Server BEND2_000075 1/10563 0/6728 1/3835
1 c.851A>C r.(?) p.(Asn284Thr) g.18221677T>G Copied from the Exome Variant Server BEND2_000074 2/10563 2/6728 0/3835
1 c.864C>T r.(=) p.(=) g.18221664G>A Copied from the Exome Variant Server BEND2_000073 9/10563 0/6728 9/3835
1 c.884C>T r.(?) p.(Ser295Phe) g.18221644G>A Copied from the Exome Variant Server BEND2_000072 1/10563 1/6728 0/3835
1 c.908-31A>G r.(=) p.(=) g.18220091T>C Copied from the Exome Variant Server BEND2_000071 1/10561 1/6726 0/3835
1 c.908-14C>A r.(=) p.(=) g.18220074G>T Copied from the Exome Variant Server BEND2_000070 9/10563 0/6728 9/3835
1 c.1033+30C>T r.(=) p.(=) g.18219905G>A Copied from the Exome Variant Server BEND2_000069 1/10563 0/6728 1/3835
1 c.1033+31G>A r.(=) p.(=) g.18219904C>T Copied from the Exome Variant Server BEND2_000068 3/10563 1/6728 2/3835
1 c.1034-21A>G r.(=) p.(=) g.18213583T>C Copied from the Exome Variant Server BEND2_000067 1/10563 1/6728 0/3835
1 c.1034-9del r.(=) p.(=) g.18213571del Copied from the Exome Variant Server BEND2_000066 43/10205 30/6484 13/3721
1 c.1061C>T r.(?) p.(Pro354Leu) g.18213535G>A Copied from the Exome Variant Server BEND2_000065 1/10563 1/6728 0/3835
1 c.1081G>A r.(?) p.(Val361Met) g.18213515C>T Copied from the Exome Variant Server BEND2_000064 1/10563 1/6728 0/3835
1 c.1101A>G r.(=) p.(=) g.18213495T>C Copied from the Exome Variant Server BEND2_000063 1/10563 1/6728 0/3835
1 c.1180+34C>T r.(=) p.(=) g.18213382G>A Copied from the Exome Variant Server BEND2_000062 116/10563 0/6728 116/3835
1 c.1181-43G>A r.(=) p.(=) g.18209271C>T Copied from the Exome Variant Server BEND2_000061 1/10562 0/6727 1/3835
1 c.1181-25C>T r.(=) p.(=) g.18209253G>A Copied from the Exome Variant Server BEND2_000060 1/10562 0/6727 1/3835
1 c.1217A>G r.(?) p.(Tyr406Cys) g.18209192T>C Copied from the Exome Variant Server BEND2_000059 9/10563 0/6728 9/3835
1 c.1288+22T>G r.(=) p.(=) g.18209099A>C Copied from the Exome Variant Server BEND2_000058 1/10563 1/6728 0/3835
1 c.1289-33T>C r.(=) p.(=) g.18198803A>G Copied from the Exome Variant Server BEND2_000057 2/10563 2/6728 0/3835
1 c.1289-16A>G r.(=) p.(=) g.18198786T>C Copied from the Exome Variant Server BEND2_000056 36/10563 34/6728 2/3835
1 c.1289-12C>T r.(=) p.(=) g.18198782G>A Copied from the Exome Variant Server BEND2_000055 3/10563 3/6728 0/3835
1 c.1340G>A r.(?) p.(Ser447Asn) g.18198719C>T Copied from the Exome Variant Server BEND2_000054 1/10563 0/6728 1/3835
1 c.1342G>A r.(?) p.(Val448Ile) g.18198717C>T Copied from the Exome Variant Server BEND2_000053 1/10563 1/6728 0/3835
1 c.1381A>G r.(?) p.(Ser461Gly) g.18198678T>C Copied from the Exome Variant Server BEND2_000052 2/10563 2/6728 0/3835
1 c.1429+24A>G r.(=) p.(=) g.18198606T>C Copied from the Exome Variant Server BEND2_000051 1/10563 0/6728 1/3835
1 c.1430-56_1430-45del r.(=) p.(=) g.18195934_18195945del Copied from the Exome Variant Server BEND2_000050 1/10203 0/6484 1/3719
1 c.1430-37A>G r.(=) p.(=) g.18195926T>C Copied from the Exome Variant Server BEND2_000049 1/10563 1/6728 0/3835
1 c.1430-22C>G r.(=) p.(=) g.18195911G>C Copied from the Exome Variant Server BEND2_000048 1/10563 1/6728 0/3835
1 c.1430-5T>G r.spl? p.? g.18195894A>C Copied from the Exome Variant Server BEND2_000047 1/10563 0/6728 1/3835
1 c.1434T>C r.(=) p.(=) g.18195885A>G Copied from the Exome Variant Server BEND2_000046 1/10563 0/6728 1/3835
1 c.1485C>T r.(=) p.(=) g.18195834G>A Copied from the Exome Variant Server BEND2_000045 2/10563 2/6728 0/3835
1 c.1532G>A r.(?) p.(Arg511His) g.18195787C>T Copied from the Exome Variant Server BEND2_000044 1/10563 0/6728 1/3835
1 c.1602C>T r.(=) p.(=) g.18195717G>A Copied from the Exome Variant Server BEND2_000043 3/10563 1/6728 2/3835
1 c.1607C>T r.(?) p.(Pro536Leu) g.18195712G>A Copied from the Exome Variant Server BEND2_000042 1/10563 1/6728 0/3835
1 c.1608G>A r.(=) p.(=) g.18195711C>T Copied from the Exome Variant Server BEND2_000041 7/10563 7/6728 0/3835
1 c.1630+11A>T r.(=) p.(=) g.18195678T>A Copied from the Exome Variant Server BEND2_000040 2/10563 0/6728 2/3835
1 c.1630+39del r.(=) p.(=) g.18195650del Copied from the Exome Variant Server BEND2_000039 1/10205 0/6484 1/3721
1 c.1631-51G>C r.(=) p.(=) g.18194264C>G Copied from the Exome Variant Server BEND2_000038 3/10548 0/6721 3/3827
1 c.1631-24G>A r.(=) p.(=) g.18194237C>T Copied from the Exome Variant Server BEND2_000037 1/10561 0/6728 1/3833
1 c.1631-10C>T r.(=) p.(=) g.18194223G>A Copied from the Exome Variant Server BEND2_000036 1/10563 1/6728 0/3835
1 c.1683C>T r.(=) p.(=) g.18194161G>A Copied from the Exome Variant Server BEND2_000035 1/10563 1/6728 0/3835
1 c.1737A>G r.(=) p.(=) g.18194107T>C Copied from the Exome Variant Server BEND2_000034 1/10563 1/6728 0/3835
1 c.1739G>T r.(?) p.(Gly580Val) g.18194105C>A Copied from the Exome Variant Server BEND2_000033 132/10563 2/6728 130/3835
1 c.1747A>G r.(?) p.(Thr583Ala) g.18194097T>C Copied from the Exome Variant Server BEND2_000032 1/10563 1/6728 0/3835
1 c.1752+51T>G r.(=) p.(=) g.18194041A>C Copied from the Exome Variant Server BEND2_000031 1/10561 0/6728 1/3833
1 c.1753-51A>G r.(=) p.(=) g.18192429T>C Copied from the Exome Variant Server BEND2_000029 1/10560 1/6726 0/3834
1 c.1753-44T>C r.(=) p.(=) g.18192422A>G Copied from the Exome Variant Server BEND2_000027 1/10561 0/6726 1/3835
1 c.1753-41T>C r.(=) p.(=) g.18192419A>G Copied from the Exome Variant Server BEND2_000025 1/10562 1/6727 0/3835
1 c.1753-37G>C r.(=) p.(=) g.18192415C>G Copied from the Exome Variant Server BEND2_000023 1/10563 0/6728 1/3835
1 c.1753-24G>A r.(=) p.(=) g.18192402C>T Copied from the Exome Variant Server BEND2_000021 28/10563 0/6728 28/3835
1 c.1753-13T>C r.(=) p.(=) g.18192391A>G Copied from the Exome Variant Server BEND2_000030 1/10563 1/6728 0/3835
1 c.1776A>G r.(=) p.(=) g.18192355T>C Copied from the Exome Variant Server BEND2_000028 1/10563 1/6728 0/3835
1 c.1778G>A r.(?) p.(Arg593His) g.18192353C>T Copied from the Exome Variant Server BEND2_000026 2/10563 2/6728 0/3835
1 c.1797G>A r.(=) p.(=) g.18192334C>T Copied from the Exome Variant Server BEND2_000024 1/10563 1/6728 0/3835
1 c.1843G>C r.(?) p.(Gly615Arg) g.18192288C>G Copied from the Exome Variant Server BEND2_000022 1/10563 1/6728 0/3835
1 c.1886G>C r.(?) p.(Arg629Thr) g.18192245C>G Copied from the Exome Variant Server BEND2_000020 2/10563 2/6728 0/3835
1 c.1945T>C r.(?) p.(Ser649Pro) g.18192186A>G Copied from the Exome Variant Server BEND2_000019 6/10563 6/6728 0/3835
1 c.1981+12T>A r.(=) p.(=) g.18192138A>T Copied from the Exome Variant Server BEND2_000018 19/10561 19/6727 0/3834
1 c.1981+12_1981+13insT r.(=) p.(=) g.18192137_18192138insA Copied from the Exome Variant Server BEND2_000017 2/10204 2/6483 0/3721
1 c.1982G>A r.(?) p.(Ser661Asn) g.18189324C>T Copied from the Exome Variant Server BEND2_000016 1/10563 1/6728 0/3835
1 c.2121C>T r.(=) p.(=) g.18189185G>A Copied from the Exome Variant Server BEND2_000015 3/10563 3/6728 0/3835
1 c.2137A>G r.(?) p.(Lys713Glu) g.18189169T>C Copied from the Exome Variant Server BEND2_000014 1/10563 1/6728 0/3835
1 c.2185+7T>C r.(=) p.(=) g.18189114A>G Copied from the Exome Variant Server BEND2_000013 1/10563 1/6728 0/3835
1 c.2185+11C>T r.(=) p.(=) g.18189110G>A Copied from the Exome Variant Server BEND2_000012 4/10563 0/6728 4/3835
1 c.2185+13T>A r.(=) p.(=) g.18189108A>T Copied from the Exome Variant Server BEND2_000011 1/10563 0/6728 1/3835
1 c.2186-22T>C r.(=) p.(=) g.18183365A>G Copied from the Exome Variant Server BEND2_000010 5/10563 0/6728 5/3835
1 c.2234G>A r.(?) p.(Arg745Lys) g.18183295C>T Copied from the Exome Variant Server BEND2_000009 1/10563 0/6728 1/3835
1 c.2247G>A r.(=) p.(=) g.18183282C>T Copied from the Exome Variant Server BEND2_000008 8/10563 7/6728 1/3835
1 c.2268C>T r.(=) p.(=) g.18183261G>A Copied from the Exome Variant Server BEND2_000007 2/10563 2/6728 0/3835
1 c.2292C>T r.(=) p.(=) g.18183237G>A Copied from the Exome Variant Server BEND2_000006 1/10563 0/6728 1/3835
1 c.2318A>G r.(?) p.(Gln773Arg) g.18183211T>C Copied from the Exome Variant Server BEND2_000005 1/10563 1/6728 0/3835
1 c.2352G>A r.(=) p.(=) g.18183177C>T Copied from the Exome Variant Server BEND2_000004 51/10563 1/6728 50/3835
1 c.2364G>A r.(=) p.(=) g.18183165C>T Copied from the Exome Variant Server BEND2_000003 1/10563 0/6728 1/3835
1 c.2376C>T r.(=) p.(=) g.18183153G>A Copied from the Exome Variant Server BEND2_000002 1/10563 1/6728 0/3835
1 c.*2C>T r.(=) p.(=) g.18183127G>A Copied from the Exome Variant Server BEND2_000001 2/10563 1/6728 1/3835
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