All transcript variants in gene DEGS1

Information The variants shown are described using the NM_003676.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-21C>T r.(=) p.(=) g.224371018C>T Copied from the Exome Variant Server DEGS1_000005 2/8894 0/5718 2/3176
?/? c.83-45T>C r.(=) p.(=) g.224377234T>C Copied from the Exome Variant Server DEGS1_000007 1/12600 0/8362 1/4238
?/? c.83-24T>C r.(=) p.(=) g.224377255T>C Copied from the Exome Variant Server DEGS1_000009 1/12916 1/8544 0/4372
?/? c.183A>C r.(=) p.(=) g.224377379A>C Copied from the Exome Variant Server DEGS1_000010 1/13006 1/8600 0/4406
?/? c.193G>A r.(?) p.(Asp65Asn) g.224377389G>A Copied from the Exome Variant Server DEGS1_000012 8/13006 8/8600 0/4406
?/? c.218C>T r.(?) p.(Ala73Val) g.224377414C>T Copied from the Exome Variant Server DEGS1_000014 1/13006 1/8600 0/4406
?/? c.291T>C r.(=) p.(=) g.224377487T>C Copied from the Exome Variant Server DEGS1_000001 2/13006 0/8600 2/4406
?/? c.306A>C r.(=) p.(=) g.224377502A>C Copied from the Exome Variant Server DEGS1_000002 1/13006 0/8600 1/4406
?/? c.319T>C r.(?) p.(Trp107Arg) g.224377515T>C Copied from the Exome Variant Server DEGS1_000003 1/13006 1/8600 0/4406
?/? c.357A>G r.(=) p.(=) g.224377553A>G Copied from the Exome Variant Server DEGS1_000004 1/13006 0/8600 1/4406
?/? c.364A>G r.(?) p.(Ile122Val) g.224377560A>G Copied from the Exome Variant Server DEGS1_000006 1/13006 1/8600 0/4406
?/? c.420C>T r.(=) p.(=) g.224377616C>T Copied from the Exome Variant Server DEGS1_000008 1/13006 1/8600 0/4406
?/? c.456C>T r.(=) p.(=) g.224377652C>T Copied from the Exome Variant Server DEGS1_000011 1/13006 0/8600 1/4406
?/? c.495T>C r.(=) p.(=) g.224377691T>C Copied from the Exome Variant Server DEGS1_000013 1/13006 1/8600 0/4406
?/? c.528C>T r.(=) p.(=) g.224377724C>T Copied from the Exome Variant Server DEGS1_000015 609/13006 366/8600 243/4406
?/? c.544A>G r.(?) p.(Ile182Val) g.224377740A>G Copied from the Exome Variant Server DEGS1_000016 1/13006 0/8600 1/4406
?/? c.548C>T r.(?) p.(Thr183Met) g.224377744C>T Copied from the Exome Variant Server DEGS1_000017 1/13006 1/8600 0/4406
?/? c.549G>A r.(=) p.(=) g.224377745G>A Copied from the Exome Variant Server DEGS1_000018 1/13006 0/8600 1/4406
?/? c.571G>A r.(?) p.(Val191Met) g.224377767G>A Copied from the Exome Variant Server DEGS1_000019 1/13006 1/8600 0/4406
?/? c.641C>G r.(?) p.(Ala214Gly) g.224377837C>G Copied from the Exome Variant Server DEGS1_000020 1/13006 1/8600 0/4406
?/? c.699T>G r.(?) p.(His233Gln) g.224377895T>G Copied from the Exome Variant Server DEGS1_000021 1/13006 1/8600 0/4406
?/? c.708C>G r.(?) p.(Phe236Leu) g.224377904C>G Copied from the Exome Variant Server DEGS1_000022 2/13006 1/8600 1/4406
?/? c.763A>T r.(?) p.(Asn255Tyr) g.224377959A>T Copied from the Exome Variant Server DEGS1_000023 3/13006 0/8600 3/4406
?/? c.800A>G r.(?) p.(Asn267Ser) g.224377996A>G Copied from the Exome Variant Server DEGS1_000024 106/13004 95/8598 11/4406
?/? c.809G>C r.(?) p.(Gly270Ala) g.224378005G>C Copied from the Exome Variant Server DEGS1_000025 1/13004 1/8598 0/4406
?/? c.826-35T>C r.(=) p.(=) g.224379999T>C Copied from the Exome Variant Server DEGS1_000026 1/13006 0/8600 1/4406
?/? c.826-23T>C r.(=) p.(=) g.224380011T>C Copied from the Exome Variant Server DEGS1_000027 1/13006 1/8600 0/4406
?/? c.861C>T r.(=) p.(=) g.224380069C>T Copied from the Exome Variant Server DEGS1_000028 1/13006 1/8600 0/4406
?/? c.874T>A r.(?) p.(Ser292Thr) g.224380082T>A Copied from the Exome Variant Server DEGS1_000029 1/13006 1/8600 0/4406
?/? c.886G>C r.(?) p.(Val296Leu) g.224380094G>C Copied from the Exome Variant Server DEGS1_000030 12/13006 0/8600 12/4406
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