Unique variants in gene OTUD5

Information The variants shown are described using the NM_017602.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.428G>C r.(?) p.(Cys143Ser) g.48814405C>G Copied from the Exome Variant Server OTUD5_000035 1/9921 0/6284 1/3637
1 c.528C>T r.(=) p.(=) g.48814305G>A Copied from the Exome Variant Server OTUD5_000034 1/10561 0/6726 1/3835
1 c.576C>T r.(=) p.(=) g.48814257G>A Copied from the Exome Variant Server OTUD5_000033 1/10560 0/6727 1/3833
1 c.588C>T r.(=) p.(=) g.48814245G>A Copied from the Exome Variant Server OTUD5_000032 1/10562 1/6728 0/3834
1 c.594+35G>T r.(=) p.(=) g.48814204C>A Copied from the Exome Variant Server OTUD5_000031 2/10555 0/6721 2/3834
1 c.595-13C>T r.(=) p.(=) g.48801557G>A Copied from the Exome Variant Server OTUD5_000030 1/10563 1/6728 0/3835
1 c.595-13del r.(=) p.(=) g.48801557del Copied from the Exome Variant Server OTUD5_000029 1/10205 1/6484 0/3721
1 c.615G>C r.(?) p.(Lys205Asn) g.48801524C>G Copied from the Exome Variant Server OTUD5_000028 1/10563 1/6728 0/3835
1 c.699G>A r.(=) p.(=) g.48792281C>T Copied from the Exome Variant Server OTUD5_000027 1/10563 1/6728 0/3835
1 c.711G>A r.(=) p.(=) g.48792269C>T Copied from the Exome Variant Server OTUD5_000026 1/10563 1/6728 0/3835
1 c.904A>G r.(?) p.(Ser302Gly) g.48791990T>C Copied from the Exome Variant Server OTUD5_000025 2/10563 2/6728 0/3835
1 c.925+29C>T r.(=) p.(=) g.48791940G>A Copied from the Exome Variant Server OTUD5_000024 2/10563 1/6728 1/3835
1 c.925+41A>G r.(=) p.(=) g.48791928T>C Copied from the Exome Variant Server OTUD5_000023 2/10563 0/6728 2/3835
1 c.925+42C>G r.(=) p.(=) g.48791927G>C Copied from the Exome Variant Server OTUD5_000022 4/10563 0/6728 4/3835
1 c.1075-20del r.(=) p.(=) g.48783346del Copied from the Exome Variant Server OTUD5_000021 2/10205 0/6484 2/3721
1 c.1116G>A r.(=) p.(=) g.48783285C>T Copied from the Exome Variant Server OTUD5_000020 2/10563 1/6728 1/3835
1 c.1218C>G r.(=) p.(=) g.48783183G>C Copied from the Exome Variant Server OTUD5_000019 31/10563 31/6728 0/3835
1 c.1278+9T>C r.(=) p.(=) g.48783114A>G Copied from the Exome Variant Server OTUD5_000018 1/10560 0/6728 1/3832
1 c.1308G>A r.(=) p.(=) g.48781300C>T Copied from the Exome Variant Server OTUD5_000017 2/10559 0/6727 2/3832
1 c.1425C>T r.(=) p.(=) g.48781183G>A Copied from the Exome Variant Server OTUD5_000016 1/10563 0/6728 1/3835
1 c.1440T>C r.(=) p.(=) g.48781168A>G Copied from the Exome Variant Server OTUD5_000015 1/10563 0/6728 1/3835
1 c.1455C>T r.(=) p.(=) g.48781153G>A Copied from the Exome Variant Server OTUD5_000014 1/10563 0/6728 1/3835
1 c.1475C>T r.(?) p.(Ala492Val) g.48781133G>A Copied from the Exome Variant Server OTUD5_000013 1/10563 0/6728 1/3835
1 c.1480+17C>T r.(=) p.(=) g.48781111G>A Copied from the Exome Variant Server OTUD5_000012 1/10563 1/6728 0/3835
1 c.1480+48C>T r.(=) p.(=) g.48781080G>A Copied from the Exome Variant Server OTUD5_000011 1/10561 1/6727 0/3834
1 c.1481-39_1481-38insGTCCTGG r.(=) p.(=) g.48781061_48781062insCCAGGAC Copied from the Exome Variant Server OTUD5_000010 52/10195 0/6480 52/3715
1 c.1481-11G>A r.(=) p.(=) g.48781034C>T Copied from the Exome Variant Server OTUD5_000009 1/10561 1/6728 0/3833
1 c.1594+8T>G r.(=) p.(=) g.48780902A>C Copied from the Exome Variant Server OTUD5_000008 1/10547 1/6724 0/3823
1 c.1595-43G>A r.(=) p.(=) g.48780615C>T Copied from the Exome Variant Server OTUD5_000007 2/10563 0/6728 2/3835
1 c.1595-30C>T r.(=) p.(=) g.48780602G>A Copied from the Exome Variant Server OTUD5_000006 2/10562 0/6727 2/3835
1 c.1595-26C>T r.(=) p.(=) g.48780598G>A Copied from the Exome Variant Server OTUD5_000005 79/10562 0/6727 79/3835
1 c.1595-12C>T r.(=) p.(=) g.48780584G>A Copied from the Exome Variant Server OTUD5_000004 46/10563 44/6728 2/3835
1 c.1595-9G>A r.(=) p.(=) g.48780581C>T Copied from the Exome Variant Server OTUD5_000003 1/10563 1/6728 0/3835
1 c.1638G>T r.(=) p.(=) g.48780529C>A Copied from the Exome Variant Server OTUD5_000002 1/10563 1/6728 0/3835
1 c.1698G>A r.(=) p.(=) g.48780469C>T Copied from the Exome Variant Server OTUD5_000001 413/10563 0/6728 413/3835
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