Unique variants in gene DIRC1

Information The variants shown are described using the NM_052952.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-20C>T r.(=) p.(=) g.189599667G>A Copied from the Exome Variant Server DIRC1_000017 2/13002 0/8598 2/4404
1 c.-19C>T r.(=) p.(=) g.189599666G>A Copied from the Exome Variant Server DIRC1_000016 2/13002 2/8598 0/4404
1 c.-16C>T r.(=) p.(=) g.189599663G>A Copied from the Exome Variant Server DIRC1_000015 1/13002 1/8598 0/4404
1 c.60C>T r.(=) p.(=) g.189599588G>A Copied from the Exome Variant Server DIRC1_000014 6/13006 6/8600 0/4406
1 c.133A>T r.(?) p.(Asn45Tyr) g.189599515T>A Copied from the Exome Variant Server DIRC1_000013 41/13006 36/8600 5/4406
1 c.151T>G r.(?) p.(Ser51Ala) g.189599497A>C Copied from the Exome Variant Server DIRC1_000012 217/13006 197/8600 20/4406
1 c.166T>C r.(=) p.(=) g.189599482A>G Copied from the Exome Variant Server DIRC1_000011 1/13006 1/8600 0/4406
1 c.177C>T r.(=) p.(=) g.189599471G>A Copied from the Exome Variant Server DIRC1_000010 1/13006 1/8600 0/4406
1 c.198T>A r.(?) p.(Phe66Leu) g.189599450A>T Copied from the Exome Variant Server DIRC1_000009 1/13006 0/8600 1/4406
1 c.219T>A r.(?) p.(Asp73Glu) g.189599429A>T Copied from the Exome Variant Server DIRC1_000008 1/13006 0/8600 1/4406
1 c.242T>C r.(?) p.(Leu81Ser) g.189599406A>G Copied from the Exome Variant Server DIRC1_000007 1/13006 1/8600 0/4406
1 c.245A>G r.(?) p.(Asn82Ser) g.189599403T>C Copied from the Exome Variant Server DIRC1_000006 1/13006 1/8600 0/4406
1 c.262T>G r.(?) p.(Cys88Gly) g.189599386A>C Copied from the Exome Variant Server DIRC1_000005 11/13006 11/8600 0/4406
1 c.275T>C r.(?) p.(Leu92Ser) g.189599373A>G Copied from the Exome Variant Server DIRC1_000004 352/13006 2/8600 350/4406
1 c.279G>A r.(=) p.(=) g.189599369C>T Copied from the Exome Variant Server DIRC1_000003 3/13006 3/8600 0/4406
1 c.296A>G r.(?) p.(Asn99Ser) g.189599352T>C Copied from the Exome Variant Server DIRC1_000002 1/13006 0/8600 1/4406
1 c.*42T>C r.(=) p.(=) g.189599291A>G Copied from the Exome Variant Server DIRC1_000001 2/13006 2/8600 0/4406
Legend