Unique variants in gene MAFB

Information The variants shown are described using the NM_005461.3 transcript reference sequence.

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

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-5C>G r.(=) p.(=) g.39317495G>C Copied from the Exome Variant Server MAFB_000018 1/12528 0/8252 1/4276
1 c.-1G>T r.(=) p.(=) g.39317491C>A Copied from the Exome Variant Server MAFB_000017 31/12688 0/8368 31/4320
1 c.6C>T r.(=) p.(=) g.39317485G>A Copied from the Exome Variant Server MAFB_000016 1/12802 1/8444 0/4358
1 c.63C>A r.(=) p.(=) g.39317428G>T Copied from the Exome Variant Server MAFB_000015 1/13002 1/8596 0/4406
1 c.72C>T r.(=) p.(=) g.39317419G>A Copied from the Exome Variant Server MAFB_000014 2/13002 0/8596 2/4406
1 c.189G>A r.(=) p.(=) g.39317302C>T Copied from the Exome Variant Server MAFB_000013 1/13006 1/8600 0/4406
1 c.227C>A r.(?) p.(Thr76Asn) g.39317264G>T Copied from the Exome Variant Server MAFB_000012 1/13006 1/8600 0/4406
1 c.340T>C r.(?) p.(Ser114Pro) g.39317151A>G Copied from the Exome Variant Server MAFB_000011 1/13006 1/8600 0/4406
1 c.389C>T r.(?) p.(Ala130Val) g.39317102G>A Copied from the Exome Variant Server MAFB_000010 2/13002 1/8596 1/4406
1 c.405T>A r.(?) p.(His135Gln) g.39317086A>T Copied from the Exome Variant Server MAFB_000009 1/12994 1/8592 0/4402
1 c.423G>C r.(=) p.(=) g.39317068C>G Copied from the Exome Variant Server MAFB_000008 1/12908 0/8534 1/4374
1 c.482_484del r.(?) p.(Pro161del) g.39317007_39317009del Copied from the Exome Variant Server MAFB_000007 36/11742 17/7762 19/3980
1 c.714C>T r.(=) p.(=) g.39316777G>A Copied from the Exome Variant Server MAFB_000006 7/13006 0/8600 7/4406
1 c.878C>T r.(?) p.(Ala293Val) g.39316613G>A Copied from the Exome Variant Server MAFB_000005 1/13006 0/8600 1/4406
1 c.886G>A r.(?) p.(Val296Ile) g.39316605C>T Copied from the Exome Variant Server MAFB_000004 1/13006 0/8600 1/4406
1 c.905C>T r.(?) p.(Ala302Val) g.39316586G>A Copied from the Exome Variant Server MAFB_000003 1/13006 0/8600 1/4406
1 c.911C>G r.(?) p.(Ser304Cys) g.39316580G>C Copied from the Exome Variant Server MAFB_000002 1/13006 0/8600 1/4406
1 c.*38C>T r.(=) p.(=) g.39316481G>A Copied from the Exome Variant Server MAFB_000001 1/12930 0/8572 1/4358
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