Full data view for gene RNF113A

Information The variants shown are described using the NM_006978.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-11A>G r.(=) p.(=) g.119005587T>C Copied from the Exome Variant Server RNF113A_000018 845/10398 344/6606 501/3792 - - - - - - -
?/? c.210C>T r.(=) p.(=) g.119005367G>A Copied from the Exome Variant Server RNF113A_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.225A>G r.(=) p.(=) g.119005352T>C Copied from the Exome Variant Server RNF113A_000016 2/10563 2/6728 0/3835 - - - - - - -
?/? c.264A>G r.(=) p.(=) g.119005313T>C Copied from the Exome Variant Server RNF113A_000015 2/10563 2/6728 0/3835 - - - - - - -
?/? c.285T>A r.(?) p.(Ser95Arg) g.119005292A>T Copied from the Exome Variant Server RNF113A_000014 5/10563 5/6728 0/3835 - - - - - - -
?/? c.315G>C r.(=) p.(=) g.119005262C>G Copied from the Exome Variant Server RNF113A_000013 6/10563 0/6728 6/3835 - - - - - - -
?/? c.323C>G r.(?) p.(Pro108Arg) g.119005254G>C Copied from the Exome Variant Server RNF113A_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.375G>C r.(?) p.(Glu125Asp) g.119005202C>G Copied from the Exome Variant Server RNF113A_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.445G>A r.(?) p.(Asp149Asn) g.119005132C>T Copied from the Exome Variant Server RNF113A_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.525C>T r.(=) p.(=) g.119005052G>A Copied from the Exome Variant Server RNF113A_000007 2/10563 0/6728 2/3835 - - - - - - -
?/? c.531G>A r.(?) p.(Met177Ile) g.119005046C>T Copied from the Exome Variant Server RNF113A_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.666C>G r.(?) p.(Asp222Glu) g.119004911G>C Copied from the Exome Variant Server RNF113A_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.725G>A r.(?) p.(Gly242Asp) g.119004852C>T Copied from the Exome Variant Server RNF113A_000004 16/10563 0/6728 16/3835 - - - - - - -
?/? c.735G>T r.(?) p.(Glu245Asp) g.119004842C>A Copied from the Exome Variant Server RNF113A_000003 5/10563 0/6728 5/3835 - - - - - - -
?/? c.763G>A r.(?) p.(Asp255Asn) g.119004814C>T Copied from the Exome Variant Server RNF113A_000002 11/10563 9/6728 2/3835 - - - - - - -
?/? c.801G>C r.(?) p.(Gln267His) g.119004776C>G Copied from the Exome Variant Server RNF113A_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1006G>A r.(?) p.(Asp336Asn) g.119004571C>T Copied from the Exome Variant Server RNF113A_000011 76/10563 71/6728 5/3835 - - - - - - -
?/? c.1011G>A r.(=) p.(=) g.119004566C>T Copied from the Exome Variant Server RNF113A_000009 1/10563 1/6728 0/3835 - - - - - - -
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