Unique variants in gene NUP62CL

Information The variants shown are described using the NM_017681.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.-29C>T r.(=) p.(=) g.106418405G>A Copied from the Exome Variant Server NUP62CL_000033 15/10563 14/6728 1/3835
1 c.-27G>C r.(=) p.(=) g.106418403C>G Copied from the Exome Variant Server NUP62CL_000031 1/10563 0/6728 1/3835
1 c.20C>G r.(?) p.(Ser7*) g.106418357G>C Copied from the Exome Variant Server NUP62CL_000029 4/10563 3/6728 1/3835
1 c.58+42A>T r.(=) p.(=) g.106418277T>A Copied from the Exome Variant Server NUP62CL_000028 1/10563 0/6728 1/3835
1 c.59-37C>A r.(=) p.(=) g.106411051G>T Copied from the Exome Variant Server NUP62CL_000026 6/10563 6/6728 0/3835
1 c.70A>G r.(?) p.(Thr24Ala) g.106411003T>C Copied from the Exome Variant Server NUP62CL_000024 2/10563 0/6728 2/3835
1 c.160T>C r.(?) p.(Phe54Leu) g.106410913A>G Copied from the Exome Variant Server NUP62CL_000022 98/10563 0/6728 98/3835
1 c.194+3A>G r.spl? p.? g.106410876T>C Copied from the Exome Variant Server NUP62CL_000034 1/10563 1/6728 0/3835
1 c.194+40T>A r.(=) p.(=) g.106410839A>T Copied from the Exome Variant Server NUP62CL_000032 2/10563 1/6728 1/3835
1 c.195-26T>A r.(=) p.(=) g.106397502A>T Copied from the Exome Variant Server NUP62CL_000030 3/10563 2/6728 1/3835
1 c.216G>C r.(?) p.(Met72Ile) g.106397455C>G Copied from the Exome Variant Server NUP62CL_000027 1/10563 1/6728 0/3835
1 c.221A>G r.(?) p.(Tyr74Cys) g.106397450T>C Copied from the Exome Variant Server NUP62CL_000025 10/10563 0/6728 10/3835
1 c.230T>G r.(?) p.(Leu77Arg) g.106397441A>C Copied from the Exome Variant Server NUP62CL_000023 1/10563 1/6728 0/3835
1 c.299C>G r.(?) p.(Thr100Ser) g.106397372G>C Copied from the Exome Variant Server NUP62CL_000021 1/10563 1/6728 0/3835
1 c.317A>G r.(?) p.(Asp106Gly) g.106397354T>C Copied from the Exome Variant Server NUP62CL_000020 1/10563 0/6728 1/3835
1 c.345+25A>G r.(=) p.(=) g.106397301T>C Copied from the Exome Variant Server NUP62CL_000019 1/10563 1/6728 0/3835
1 c.346-29T>C r.(=) p.(=) g.106396762A>G Copied from the Exome Variant Server NUP62CL_000018 28/10418 27/6651 1/3767
1 c.346-11T>A r.(=) p.(=) g.106396744A>T Copied from the Exome Variant Server NUP62CL_000017 1/10493 1/6684 0/3809
1 c.349C>T r.(?) p.(Arg117Cys) g.106396730G>A Copied from the Exome Variant Server NUP62CL_000016 1/10533 1/6704 0/3829
1 c.395+30A>G r.(=) p.(=) g.106396654T>C Copied from the Exome Variant Server NUP62CL_000015 1/10550 0/6718 1/3832
1 c.395+66del r.(=) p.(=) g.106396618del Copied from the Exome Variant Server NUP62CL_000013 416/10196 264/6477 152/3719
1 c.395+66dup r.(=) p.(=) g.106396618dup Copied from the Exome Variant Server NUP62CL_000012 277/10196 168/6477 109/3719
1 c.426A>G r.(=) p.(=) g.106396506T>C Copied from the Exome Variant Server NUP62CL_000010 128/10563 120/6728 8/3835
1 c.437A>T r.(?) p.(Glu146Val) g.106396495T>A Copied from the Exome Variant Server NUP62CL_000009 1/10563 1/6728 0/3835
1 c.475C>T r.(?) p.(Arg159Cys) g.106396457G>A Copied from the Exome Variant Server NUP62CL_000008 1/10563 1/6728 0/3835
1 c.476G>A r.(?) p.(Arg159His) g.106396456C>T Copied from the Exome Variant Server NUP62CL_000007 45/10563 0/6728 45/3835
1 c.477T>C r.(=) p.(=) g.106396455A>G Copied from the Exome Variant Server NUP62CL_000006 4112/10563 1226/6728 2886/3835
1 c.496T>G r.(?) p.(Tyr166Asp) g.106396436A>C Copied from the Exome Variant Server NUP62CL_000005 15/10563 0/6728 15/3835
1 c.530T>C r.(?) p.(Ile177Thr) g.106396402A>G Copied from the Exome Variant Server NUP62CL_000004 4112/10563 1226/6728 2886/3835
1 c.530+42C>T r.(=) p.(=) g.106396360G>A Copied from the Exome Variant Server NUP62CL_000003 1/10563 0/6728 1/3835
1 c.530+43G>A r.(=) p.(=) g.106396359C>T Copied from the Exome Variant Server NUP62CL_000002 1/10563 1/6728 0/3835
1 c.531-90_531-89del r.(=) p.(=) g.106391128_106391129del Copied from the Exome Variant Server NUP62CL_000001 2/10150 1/6452 1/3698
1 c.*21C>T r.(=) p.(=) g.106390994G>A Copied from the Exome Variant Server NUP62CL_000014 1/10562 1/6728 0/3834
1 c.*28T>C r.(=) p.(=) g.106390987A>G Copied from the Exome Variant Server NUP62CL_000011 1/10562 1/6728 0/3834
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