All transcript variants in gene BGN

Information The variants shown are described using the NM_001711.4 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-11-15C>T r.(=) p.(=) g.152770064C>T Copied from the Exome Variant Server BGN_000001 6/10560 0/6726 6/3834
?/? c.-11-11T>C r.(=) p.(=) g.152770068T>C Copied from the Exome Variant Server BGN_000002 11/10560 0/6726 11/3834
?/? c.27T>C r.(=) p.(=) g.152770116T>C Copied from the Exome Variant Server BGN_000003 1/10562 1/6727 0/3835
?/? c.111C>T r.(=) p.(=) g.152770200C>T Copied from the Exome Variant Server BGN_000004 14/10563 14/6728 0/3835
?/? c.117G>A r.(=) p.(=) g.152770206G>A Copied from the Exome Variant Server BGN_000005 1/10563 1/6728 0/3835
?/? c.120A>G r.(=) p.(=) g.152770209A>G Copied from the Exome Variant Server BGN_000006 246/10563 0/6728 246/3835
?/? c.121G>T r.(?) p.(Ala41Ser) g.152770210G>T Copied from the Exome Variant Server BGN_000007 1/10563 0/6728 1/3835
?/? c.126G>A r.(=) p.(=) g.152770215G>A Copied from the Exome Variant Server BGN_000008 1/10563 0/6728 1/3835
?/? c.138C>A r.(=) p.(=) g.152770227C>A Copied from the Exome Variant Server BGN_000009 2/10563 2/6728 0/3835
?/? c.141G>A r.(=) p.(=) g.152770230G>A Copied from the Exome Variant Server BGN_000010 3777/10563 2751/6728 1026/3835
?/? c.144C>A r.(=) p.(=) g.152770233C>A Copied from the Exome Variant Server BGN_000011 1/10563 1/6728 0/3835
?/? c.145G>A r.(?) p.(Val49Ile) g.152770234G>A Copied from the Exome Variant Server BGN_000012 1/10563 0/6728 1/3835
?/? c.156G>A r.(=) p.(=) g.152770245G>A Copied from the Exome Variant Server BGN_000013 1/10563 0/6728 1/3835
?/? c.169C>G r.(?) p.(Pro57Ala) g.152770258C>G Copied from the Exome Variant Server BGN_000014 1/10563 1/6728 0/3835
?/? c.180C>T r.(=) p.(=) g.152770269C>T Copied from the Exome Variant Server BGN_000015 1/10563 1/6728 0/3835
?/? c.186G>A r.(?) p.(Met62Ile) g.152770275G>A Copied from the Exome Variant Server BGN_000016 1/10563 1/6728 0/3835
?/? c.231C>T r.(=) p.(=) g.152770320C>T Copied from the Exome Variant Server BGN_000017 1/10562 0/6727 1/3835
?/? c.238+23G>A r.(=) p.(=) g.152770350G>A Copied from the Exome Variant Server BGN_000018 5/10562 5/6727 0/3835
?/? c.238+24C>T r.(=) p.(=) g.152770351C>T Copied from the Exome Variant Server BGN_000019 1/10561 0/6726 1/3835
?/? c.238+25G>A r.(=) p.(=) g.152770352G>A Copied from the Exome Variant Server BGN_000020 1/10561 1/6726 0/3835
?/? c.238+51G>A r.(=) p.(=) g.152770378G>A Copied from the Exome Variant Server BGN_000021 497/10559 458/6724 39/3835
?/? c.239-48G>A r.(=) p.(=) g.152770648G>A Copied from the Exome Variant Server BGN_000022 1/10563 1/6728 0/3835
?/? c.239-38T>C r.(=) p.(=) g.152770658T>C Copied from the Exome Variant Server BGN_000023 239/10563 0/6728 239/3835
?/? c.257A>G r.(?) p.(Lys86Arg) g.152770714A>G Copied from the Exome Variant Server BGN_000024 133/10563 121/6728 12/3835
?/? c.278C>T r.(?) p.(Thr93Met) g.152770735C>T Copied from the Exome Variant Server BGN_000025 1/10563 0/6728 1/3835
?/? c.310G>A r.(?) p.(Glu104Lys) g.152770767G>A Copied from the Exome Variant Server BGN_000026 26/10563 1/6728 25/3835
?/? c.351+6G>A r.(=) p.(=) g.152770814G>A Copied from the Exome Variant Server BGN_000027 4/10562 4/6728 0/3834
?/? c.351+49C>T r.(=) p.(=) g.152770857C>T Copied from the Exome Variant Server BGN_000028 1/10552 1/6725 0/3827
?/? c.352-24C>T r.(=) p.(=) g.152771297C>T Copied from the Exome Variant Server BGN_000029 1/10561 1/6726 0/3835
?/? c.352-17C>T r.(=) p.(=) g.152771304C>T Copied from the Exome Variant Server BGN_000030 1/10561 1/6726 0/3835
?/? c.352-16G>A r.(=) p.(=) g.152771305G>A Copied from the Exome Variant Server BGN_000031 1/10561 1/6726 0/3835
?/? c.357C>T r.(=) p.(=) g.152771326C>T Copied from the Exome Variant Server BGN_000032 19/10560 15/6725 4/3835
?/? c.461C>A r.(?) p.(Pro154Gln) g.152771430C>A Copied from the Exome Variant Server BGN_000033 1/10563 1/6728 0/3835
?/? c.514C>T r.(?) p.(Arg172Cys) g.152771483C>T Copied from the Exome Variant Server BGN_000034 1/10563 1/6728 0/3835
?/? c.540C>T r.(=) p.(=) g.152771509C>T Copied from the Exome Variant Server BGN_000035 3763/10563 3135/6728 628/3835
?/? c.548G>A r.(?) p.(Arg183Gln) g.152771517G>A Copied from the Exome Variant Server BGN_000036 2/10563 2/6728 0/3835
?/? c.564C>T r.(=) p.(=) g.152771533C>T Copied from the Exome Variant Server BGN_000063 406/10563 98/6728 308/3835
?/? c.565+41C>T r.(=) p.(=) g.152771575C>T Copied from the Exome Variant Server BGN_000064 1/10562 0/6728 1/3834
?/? c.565+42G>A r.(=) p.(=) g.152771576G>A Copied from the Exome Variant Server BGN_000056 55/10561 0/6727 55/3834
?/? c.566-36C>T r.(=) p.(=) g.152771951C>T Copied from the Exome Variant Server BGN_000057 1/10563 1/6728 0/3835
?/? c.566-16G>A r.(=) p.(=) g.152771971G>A Copied from the Exome Variant Server BGN_000058 1/10563 0/6728 1/3835
?/? c.573C>T r.(=) p.(=) g.152771994C>T Copied from the Exome Variant Server BGN_000059 23/10563 1/6728 22/3835
?/? c.612C>T r.(=) p.(=) g.152772033C>T Copied from the Exome Variant Server BGN_000060 1/10563 1/6728 0/3835
?/? c.676+42C>G r.(=) p.(=) g.152772139C>G Copied from the Exome Variant Server BGN_000061 2/10562 0/6727 2/3835
?/? c.766T>C r.(?) p.(Tyr256His) g.152772377T>C Copied from the Exome Variant Server BGN_000062 1/10563 0/6728 1/3835
?/? c.770+20G>A r.(=) p.(=) g.152772401G>A Copied from the Exome Variant Server BGN_000044 1/10563 1/6728 0/3835
?/? c.771-38C>T r.(=) p.(=) g.152772467C>T Copied from the Exome Variant Server BGN_000045 2/10563 0/6728 2/3835
?/? c.771-32C>T r.(=) p.(=) g.152772473C>T Copied from the Exome Variant Server BGN_000046 3610/10563 2636/6728 974/3835
?/? c.771-9C>T r.(=) p.(=) g.152772496C>T Copied from the Exome Variant Server BGN_000047 3/10562 3/6727 0/3835
?/? c.807G>A r.(=) p.(=) g.152772541G>A Copied from the Exome Variant Server BGN_000048 2/10560 2/6726 0/3834
?/? c.810C>T r.(=) p.(=) g.152772544C>T Copied from the Exome Variant Server BGN_000049 1/10560 1/6726 0/3834
?/? c.838C>T r.(?) p.(Arg280Trp) g.152772572C>T Copied from the Exome Variant Server BGN_000050 1/10558 1/6725 0/3833
?/? c.910-18C>T r.(=) p.(=) g.152773688C>T Copied from the Exome Variant Server BGN_000051 312/10563 93/6728 219/3835
?/? c.922C>G r.(?) p.(His308Asp) g.152773718C>G Copied from the Exome Variant Server BGN_000052 1/10563 1/6728 0/3835
?/? c.966C>T r.(=) p.(=) g.152773762C>T Copied from the Exome Variant Server BGN_000053 3/10563 0/6728 3/3835
?/? c.976G>A r.(?) p.(Gly326Arg) g.152773772G>A Copied from the Exome Variant Server BGN_000054 2/10563 2/6728 0/3835
?/? c.1002C>T r.(=) p.(=) g.152773798C>T Copied from the Exome Variant Server BGN_000055 2/10563 0/6728 2/3835
?/? c.1023C>G r.(=) p.(=) g.152773819C>G Copied from the Exome Variant Server BGN_000037 1/10563 1/6728 0/3835
?/? c.1057C>T r.(?) p.(Arg353Cys) g.152773853C>T Copied from the Exome Variant Server BGN_000038 1/10563 1/6728 0/3835
?/? c.1058G>A r.(?) p.(Arg353His) g.152773854G>A Copied from the Exome Variant Server BGN_000039 1/10563 1/6728 0/3835
?/? c.1063G>A r.(?) p.(Val355Ile) g.152773859G>A Copied from the Exome Variant Server BGN_000040 1/10563 1/6728 0/3835
?/? c.*18G>A r.(=) p.(=) g.152773921G>A Copied from the Exome Variant Server BGN_000041 17/10558 0/6724 17/3834
?/? c.*19C>T r.(=) p.(=) g.152773922C>T Copied from the Exome Variant Server BGN_000042 2/10558 2/6724 0/3834
?/? c.*22G>A r.(=) p.(=) g.152773925G>A Copied from the Exome Variant Server BGN_000043 1/10558 0/6724 1/3834
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