Unique variants in gene UXT

Information The variants shown are described using the NM_153477.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.74C>A r.(?) p.(Thr25Lys) g.47518289G>T Copied from the Exome Variant Server UXT_000019 1/10563 1/6728 0/3835
1 c.84A>G r.(=) p.(=) g.47518279T>C Copied from the Exome Variant Server UXT_000018 1/10563 1/6728 0/3835
1 c.109A>G r.(?) p.(Ser37Gly) g.47518254T>C Copied from the Exome Variant Server UXT_000017 1/10563 0/6728 1/3835
1 c.121C>A r.(?) p.(Gln41Lys) g.47518242G>T Copied from the Exome Variant Server UXT_000016 2/10562 0/6727 2/3835
1 c.134+24G>A r.(=) p.(=) g.47518205C>T Copied from the Exome Variant Server UXT_000015 1/10560 0/6727 1/3833
1 c.134+28T>C r.(=) p.(=) g.47518201A>G Copied from the Exome Variant Server UXT_000014 9/10560 0/6727 9/3833
1 c.135-15C>T r.(=) p.(=) g.47517277G>A Copied from the Exome Variant Server UXT_000013 4/10563 4/6728 0/3835
1 c.135-10G>A r.(=) p.(=) g.47517272C>T Copied from the Exome Variant Server UXT_000011 1/10563 0/6728 1/3835
1 c.160G>A r.(?) p.(Val54Ile) g.47517237C>T Copied from the Exome Variant Server UXT_000010 1/10563 0/6728 1/3835
1 c.216+23C>T r.(=) p.(=) g.47517158G>A Copied from the Exome Variant Server UXT_000008 1/10563 1/6728 0/3835
1 c.252T>C r.(=) p.(=) g.47517003A>G Copied from the Exome Variant Server UXT_000006 2/10563 2/6728 0/3835
1 c.271G>A r.(?) p.(Val91Ile) g.47516984C>T Copied from the Exome Variant Server UXT_000012 1/10563 0/6728 1/3835
1 c.329T>C r.(?) p.(Phe110Ser) g.47516645A>G Copied from the Exome Variant Server UXT_000009 1/10563 1/6728 0/3835
1 c.404G>A r.(?) p.(Ser135Asn) g.47511532C>T Copied from the Exome Variant Server UXT_000007 1/10563 1/6728 0/3835
1 c.438T>C r.(=) p.(=) g.47511498A>G Copied from the Exome Variant Server UXT_000005 1/10563 1/6728 0/3835
1 c.457-49C>T r.(=) p.(=) g.47511343G>A Copied from the Exome Variant Server UXT_000004 2/10562 0/6727 2/3835
1 c.457-23A>G r.(=) p.(=) g.47511317T>C Copied from the Exome Variant Server UXT_000003 30/10563 0/6728 30/3835
1 c.483G>T r.(?) p.(Gln161His) g.47511268C>A Copied from the Exome Variant Server UXT_000002 1/10563 0/6728 1/3835
1 c.506A>G r.(?) p.(His169Arg) g.47511245T>C Copied from the Exome Variant Server UXT_000001 1/10563 1/6728 0/3835
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