All transcript variants in gene OTUD6A

Information The variants shown are described using the NM_207320.1 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-20del r.(=) p.(=) g.69282355del Copied from the Exome Variant Server OTUD6A_000001 6/10200 6/6479 0/3721
?/? c.80G>A r.(?) p.(Arg27Gln) g.69282454G>A Copied from the Exome Variant Server OTUD6A_000002 1/10563 1/6728 0/3835
?/? c.159C>A r.(=) p.(=) g.69282533C>A Copied from the Exome Variant Server OTUD6A_000003 1/10563 0/6728 1/3835
?/? c.180G>A r.(=) p.(=) g.69282554G>A Copied from the Exome Variant Server OTUD6A_000004 1/10562 0/6728 1/3834
?/? c.189G>T r.(=) p.(=) g.69282563G>T Copied from the Exome Variant Server OTUD6A_000005 2/10562 0/6728 2/3834
?/? c.229G>A r.(?) p.(Glu77Lys) g.69282603G>A Copied from the Exome Variant Server OTUD6A_000006 1/10563 1/6728 0/3835
?/? c.269G>A r.(?) p.(Arg90His) g.69282643G>A Copied from the Exome Variant Server OTUD6A_000007 1/10562 0/6728 1/3834
?/? c.278A>G r.(?) p.(Lys93Arg) g.69282652A>G Copied from the Exome Variant Server OTUD6A_000008 326/10559 16/6726 310/3833
?/? c.310G>C r.(?) p.(Glu104Gln) g.69282684G>C Copied from the Exome Variant Server OTUD6A_000009 1/10556 1/6726 0/3830
?/? c.379_381del r.(?) p.(Glu130del) g.69282753_69282755del Copied from the Exome Variant Server OTUD6A_000010 165/10125 116/6438 49/3687
?/? c.493G>A r.(?) p.(Val165Met) g.69282867G>A Copied from the Exome Variant Server OTUD6A_000011 171/10563 2/6728 169/3835
?/? c.504G>C r.(?) p.(Glu168Asp) g.69282878G>C Copied from the Exome Variant Server OTUD6A_000012 1/10563 0/6728 1/3835
?/? c.576C>T r.(=) p.(=) g.69282950C>T Copied from the Exome Variant Server OTUD6A_000013 1/10563 0/6728 1/3835
?/? c.594C>T r.(=) p.(=) g.69282968C>T Copied from the Exome Variant Server OTUD6A_000014 63/10563 48/6728 15/3835
?/? c.611T>C r.(?) p.(Met204Thr) g.69282985T>C Copied from the Exome Variant Server OTUD6A_000015 1/10563 0/6728 1/3835
?/? c.634C>T r.(?) p.(Arg212Cys) g.69283008C>T Copied from the Exome Variant Server OTUD6A_000016 1/10563 1/6728 0/3835
?/? c.702G>A r.(=) p.(=) g.69283076G>A Copied from the Exome Variant Server OTUD6A_000017 22/10563 20/6728 2/3835
?/? c.715G>A r.(?) p.(Asp239Asn) g.69283089G>A Copied from the Exome Variant Server OTUD6A_000018 2/10563 1/6728 1/3835
?/? c.776T>G r.(?) p.(Leu259Arg) g.69283150T>G Copied from the Exome Variant Server OTUD6A_000019 1/10563 1/6728 0/3835
?/? c.826G>C r.(?) p.(Glu276Gln) g.69283200G>C Copied from the Exome Variant Server OTUD6A_000020 8/10547 0/6713 8/3834
?/? c.834C>T r.(=) p.(=) g.69283208C>T Copied from the Exome Variant Server OTUD6A_000021 2/10514 2/6697 0/3817
?/? c.841G>T r.(?) p.(Gly281Trp) g.69283215G>T Copied from the Exome Variant Server OTUD6A_000022 1/10402 1/6635 0/3767
?/? c.862C>T r.(=) p.(=) g.69283236C>T Copied from the Exome Variant Server OTUD6A_000023 6/9972 0/6370 6/3602
Legend