Full data view for gene NDUFB11

Information The variants shown are described using the NM_019056.6 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.92C>G r.(?) p.(Ser31Cys) g.47003987G>C Copied from the Exome Variant Server NDUFB11_000016 1/10459 1/6669 0/3790 - - - - - - -
?/? c.124G>A r.(?) p.(Ala42Thr) g.47003955C>T Copied from the Exome Variant Server NDUFB11_000014 1/10135 1/6458 0/3677 - - - - - - -
?/? c.152C>A r.(?) p.(Pro51Gln) g.47003927G>T Copied from the Exome Variant Server NDUFB11_000017 1/10348 1/6585 0/3763 - - - - - - -
?/? c.158C>T r.(?) p.(Thr53Ile) g.47003921G>A Copied from the Exome Variant Server NDUFB11_000015 2/10382 2/6600 0/3782 - - - - - - -
?/? c.162G>T r.(=) p.(=) g.47003917C>A Copied from the Exome Variant Server NDUFB11_000013 1/10389 1/6609 0/3780 - - - - - - -
?/? c.207+21del r.(=) p.(=) g.47003851del Copied from the Exome Variant Server NDUFB11_000012 13/2990 9/2084 4/906 - - - - - - -
?/? c.207+21dup r.(=) p.(=) g.47003851dup Copied from the Exome Variant Server NDUFB11_000011 914/2990 684/2084 230/906 - - - - - - -
?/? c.207+21_207+24del r.(=) p.(=) g.47003848_47003851del Copied from the Exome Variant Server NDUFB11_000010 96/2990 33/2084 63/906 - - - - - - -
?/? c.207+21_207+26del r.(=) p.(=) g.47003846_47003851del Copied from the Exome Variant Server NDUFB11_000009 46/2990 36/2084 10/906 - - - - - - -
?/? c.241G>A r.(?) p.(Val81Ile) g.47002110C>T Copied from the Exome Variant Server NDUFB11_000008 2/10563 0/6728 2/3835 - - - - - - -
?/? c.249C>T r.(=) p.(=) g.47002102G>A Copied from the Exome Variant Server NDUFB11_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.250G>A r.(?) p.(Val84Ile) g.47002101C>T Copied from the Exome Variant Server NDUFB11_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.359C>T r.(?) p.(Ala120Val) g.47001992G>A Copied from the Exome Variant Server NDUFB11_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.388C>T r.(?) p.(Arg130Cys) g.47001820G>A Copied from the Exome Variant Server NDUFB11_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.457G>A r.(?) p.(Asp153Asn) g.47001751C>T Copied from the Exome Variant Server NDUFB11_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.459C>T r.(=) p.(=) g.47001749G>A Copied from the Exome Variant Server NDUFB11_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*31G>A r.(=) p.(=) g.47001685C>T Copied from the Exome Variant Server NDUFB11_000001 1/10561 1/6727 0/3834 - - - - - - -
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