All transcript variants in gene GJB1

Information The variants shown are described using the NM_000166.5 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-16-27G>C r.(=) p.(=) g.70443515G>C Copied from the Exome Variant Server GJB1_000001 1/10563 0/6728 1/3835
?/? c.-16-22C>T r.(=) p.(=) g.70443520C>T Copied from the Exome Variant Server GJB1_000002 1/10563 0/6728 1/3835
?/? c.-6G>A r.(=) p.(=) g.70443552G>A Copied from the Exome Variant Server GJB1_000003 3/10563 3/6728 0/3835
?/? c.108G>C r.(=) p.(=) g.70443665G>C Copied from the Exome Variant Server GJB1_000004 1/10563 1/6728 0/3835
?/? c.235C>T r.(=) p.(=) g.70443792C>T Copied from the Exome Variant Server GJB1_000005 20/10561 19/6726 1/3835
?/? c.261A>G r.(=) p.(=) g.70443818A>G Copied from the Exome Variant Server GJB1_000006 1/10563 1/6728 0/3835
?/? c.274G>T r.(?) p.(Ala92Ser) g.70443831G>T Copied from the Exome Variant Server GJB1_000007 1/10563 1/6728 0/3835
?/? c.490C>T r.(?) p.(Arg164Trp) g.70444047C>T Copied from the Exome Variant Server GJB1_000008 1/10562 1/6727 0/3835
?/? c.507C>T r.(=) p.(=) g.70444064C>T Copied from the Exome Variant Server GJB1_000009 3/10563 3/6728 0/3835
?/? c.642C>T r.(=) p.(=) g.70444199C>T Copied from the Exome Variant Server GJB1_000010 1/10563 0/6728 1/3835
?/? c.655C>A r.(?) p.(Arg219Ser) g.70444212C>A Copied from the Exome Variant Server GJB1_000011 1/10562 0/6728 1/3834
?/? c.671G>A r.(?) p.(Arg224His) g.70444228G>A Copied from the Exome Variant Server GJB1_000012 1/10557 1/6724 0/3833
?/? c.704T>G r.(?) p.(Phe235Cys) g.70444261T>G Copied from the Exome Variant Server GJB1_000013 32/10559 0/6724 32/3835
?/? c.835C>T r.(?) p.(Arg279Cys) g.70444392C>T Copied from the Exome Variant Server GJB1_000014 1/10240 0/6513 1/3727
?/? c.*34C>A r.(=) p.(=) g.70444443C>A Copied from the Exome Variant Server GJB1_000015 150/8758 3/5718 147/3040
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