Unique variants in gene DDX53

Information The variants shown are described using the NM_182699.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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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.-23G>A r.(=) p.(=) g.23018152G>A Copied from the Exome Variant Server DDX53_000001 1/10459 1/6670 0/3789
1 c.-6del r.(=) p.(=) g.23018169del Copied from the Exome Variant Server DDX53_000002 46/10168 45/6461 1/3707
1 c.13G>A r.(?) p.(Ala5Thr) g.23018187G>A Copied from the Exome Variant Server DDX53_000003 9/10551 9/6723 0/3828
1 c.80G>A r.(?) p.(Ser27Asn) g.23018254G>A Copied from the Exome Variant Server DDX53_000004 1/10563 1/6728 0/3835
1 c.113A>G r.(?) p.(His38Arg) g.23018287A>G Copied from the Exome Variant Server DDX53_000005 49/10563 0/6728 49/3835
1 c.185T>C r.(?) p.(Val62Ala) g.23018359T>C Copied from the Exome Variant Server DDX53_000006 723/10563 4/6728 719/3835
1 c.190A>G r.(?) p.(Ile64Val) g.23018364A>G Copied from the Exome Variant Server DDX53_000007 1/10563 0/6728 1/3835
1 c.193G>A r.(?) p.(Gly65Ser) g.23018367G>A Copied from the Exome Variant Server DDX53_000008 1/10563 0/6728 1/3835
1 c.222A>C r.(=) p.(=) g.23018396A>C Copied from the Exome Variant Server DDX53_000009 3/10563 3/6728 0/3835
1 c.287T>C r.(?) p.(Phe96Ser) g.23018461T>C Copied from the Exome Variant Server DDX53_000010 1/10563 0/6728 1/3835
1 c.315C>T r.(=) p.(=) g.23018489C>T Copied from the Exome Variant Server DDX53_000011 37/10563 0/6728 37/3835
1 c.319G>T r.(?) p.(Ala107Ser) g.23018493G>T Copied from the Exome Variant Server DDX53_000012 30/10563 27/6728 3/3835
1 c.346C>G r.(?) p.(Gln116Glu) g.23018520C>G Copied from the Exome Variant Server DDX53_000013 2/10563 2/6728 0/3835
1 c.369C>T r.(=) p.(=) g.23018543C>T Copied from the Exome Variant Server DDX53_000014 1/10563 0/6728 1/3835
1 c.400A>G r.(?) p.(Ile134Val) g.23018574A>G Copied from the Exome Variant Server DDX53_000015 1/10563 1/6728 0/3835
1 c.461A>G r.(?) p.(Asp154Gly) g.23018635A>G Copied from the Exome Variant Server DDX53_000016 1/10563 0/6728 1/3835
1 c.479T>C r.(?) p.(Val160Ala) g.23018653T>C Copied from the Exome Variant Server DDX53_000017 1/10563 1/6728 0/3835
1 c.490G>A r.(?) p.(Glu164Lys) g.23018664G>A Copied from the Exome Variant Server DDX53_000018 14/10563 13/6728 1/3835
1 c.511C>T r.(=) p.(=) g.23018685C>T Copied from the Exome Variant Server DDX53_000019 1/10563 1/6728 0/3835
1 c.536A>C r.(?) p.(Tyr179Ser) g.23018710A>C Copied from the Exome Variant Server DDX53_000020 2/10563 2/6728 0/3835
1 c.561C>T r.(=) p.(=) g.23018735C>T Copied from the Exome Variant Server DDX53_000021 2/10563 0/6728 2/3835
1 c.607_608del r.(?) p.(Ile203Asnfs*3) g.23018781_23018782del Copied from the Exome Variant Server DDX53_000024 3/10205 2/6484 1/3721
1 c.611C>T r.(?) p.(Thr204Met) g.23018785C>T Copied from the Exome Variant Server DDX53_000025 1/10563 0/6728 1/3835
1 c.700C>T r.(=) p.(=) g.23018874C>T Copied from the Exome Variant Server DDX53_000027 1/10563 0/6728 1/3835
1 c.742A>T r.(?) p.(Ile248Phe) g.23018916A>T Copied from the Exome Variant Server DDX53_000029 1/10563 0/6728 1/3835
1 c.754G>A r.(?) p.(Ala252Thr) g.23018928G>A Copied from the Exome Variant Server DDX53_000022 1/10563 1/6728 0/3835
1 c.781G>A r.(?) p.(Asp261Asn) g.23018955G>A Copied from the Exome Variant Server DDX53_000023 1/10563 0/6728 1/3835
1 c.801A>G r.(=) p.(=) g.23018975A>G Copied from the Exome Variant Server DDX53_000026 17/10563 0/6728 17/3835
1 c.861A>G r.(=) p.(=) g.23019035A>G Copied from the Exome Variant Server DDX53_000028 1/10563 0/6728 1/3835
1 c.942T>A r.(=) p.(=) g.23019116T>A Copied from the Exome Variant Server DDX53_000030 1/10563 0/6728 1/3835
1 c.985A>C r.(?) p.(Ile329Leu) g.23019159A>C Copied from the Exome Variant Server DDX53_000031 1/10563 0/6728 1/3835
1 c.1004G>T r.(?) p.(Arg335Ile) g.23019178G>T Copied from the Exome Variant Server DDX53_000032 1/10563 1/6728 0/3835
1 c.1010G>A r.(?) p.(Gly337Glu) g.23019184G>A Copied from the Exome Variant Server DDX53_000033 1/10563 0/6728 1/3835
1 c.1030A>C r.(?) p.(Lys344Gln) g.23019204A>C Copied from the Exome Variant Server DDX53_000034 1/10563 0/6728 1/3835
1 c.1059T>C r.(=) p.(=) g.23019233T>C Copied from the Exome Variant Server DDX53_000035 5/10563 0/6728 5/3835
1 c.1074C>T r.(=) p.(=) g.23019248C>T Copied from the Exome Variant Server DDX53_000036 177/10563 162/6728 15/3835
1 c.1080A>G r.(=) p.(=) g.23019254A>G Copied from the Exome Variant Server DDX53_000037 1/10563 0/6728 1/3835
1 c.1099C>T r.(=) p.(=) g.23019273C>T Copied from the Exome Variant Server DDX53_000038 1/10563 1/6728 0/3835
1 c.1117T>C r.(=) p.(=) g.23019291T>C Copied from the Exome Variant Server DDX53_000039 10/10563 0/6728 10/3835
1 c.1143G>T r.(?) p.(Met381Ile) g.23019317G>T Copied from the Exome Variant Server DDX53_000040 856/10563 789/6728 67/3835
1 c.1172G>T r.(?) p.(Arg391Met) g.23019346G>T Copied from the Exome Variant Server DDX53_000041 2906/10563 818/6728 2088/3835
1 c.1193G>A r.(?) p.(Arg398His) g.23019367G>A Copied from the Exome Variant Server DDX53_000042 1/10563 0/6728 1/3835
1 c.1201C>T r.(?) p.(Arg401*) g.23019375C>T Copied from the Exome Variant Server DDX53_000043 1/10563 1/6728 0/3835
1 c.1202G>A r.(?) p.(Arg401Gln) g.23019376G>A Copied from the Exome Variant Server DDX53_000044 1/10563 0/6728 1/3835
1 c.1244G>A r.(?) p.(Arg415His) g.23019418G>A Copied from the Exome Variant Server DDX53_000045 3/10563 0/6728 3/3835
1 c.1245T>C r.(=) p.(=) g.23019419T>C Copied from the Exome Variant Server DDX53_000046 2/10563 2/6728 0/3835
1 c.1250T>A r.(?) p.(Leu417Gln) g.23019424T>A Copied from the Exome Variant Server DDX53_000047 2/10563 0/6728 2/3835
1 c.1355A>G r.(?) p.(Glu452Gly) g.23019529A>G Copied from the Exome Variant Server DDX53_000048 1/10563 1/6728 0/3835
1 c.1381G>A r.(?) p.(Val461Ile) g.23019555G>A Copied from the Exome Variant Server DDX53_000049 1/10563 0/6728 1/3835
1 c.1455C>T r.(=) p.(=) g.23019629C>T Copied from the Exome Variant Server DDX53_000050 1/10563 0/6728 1/3835
1 c.1456G>A r.(?) p.(Asp486Asn) g.23019630G>A Copied from the Exome Variant Server DDX53_000051 1/10563 1/6728 0/3835
1 c.1496G>T r.(?) p.(Gly499Val) g.23019670G>T Copied from the Exome Variant Server DDX53_000052 328/10563 6/6728 322/3835
1 c.1535A>C r.(?) p.(Asp512Ala) g.23019709A>C Copied from the Exome Variant Server DDX53_000053 4/10563 0/6728 4/3835
1 c.1577T>C r.(?) p.(Ile526Thr) g.23019751T>C Copied from the Exome Variant Server DDX53_000054 3/10563 1/6728 2/3835
1 c.1578A>C r.(=) p.(=) g.23019752A>C Copied from the Exome Variant Server DDX53_000055 1/10563 1/6728 0/3835
1 c.1610C>T r.(?) p.(Thr537Ile) g.23019784C>T Copied from the Exome Variant Server DDX53_000056 1/10563 1/6728 0/3835
1 c.1632C>T r.(=) p.(=) g.23019806C>T Copied from the Exome Variant Server DDX53_000057 3/10563 0/6728 3/3835
1 c.1648G>A r.(?) p.(Val550Ile) g.23019822G>A Copied from the Exome Variant Server DDX53_000058 1/10563 1/6728 0/3835
1 c.1654G>A r.(?) p.(Val552Ile) g.23019828G>A Copied from the Exome Variant Server DDX53_000059 1/10563 1/6728 0/3835
1 c.1702G>A r.(?) p.(Val568Ile) g.23019876G>A Copied from the Exome Variant Server DDX53_000060 1/10563 1/6728 0/3835
1 c.1724A>G r.(?) p.(Asp575Gly) g.23019898A>G Copied from the Exome Variant Server DDX53_000061 1/10563 0/6728 1/3835
1 c.1766C>T r.(?) p.(Ala589Val) g.23019940C>T Copied from the Exome Variant Server DDX53_000062 1/10563 1/6728 0/3835
1 c.1775G>A r.(?) p.(Ser592Asn) g.23019949G>A Copied from the Exome Variant Server DDX53_000063 1/10563 1/6728 0/3835
1 c.1782G>A r.(=) p.(=) g.23019956G>A Copied from the Exome Variant Server DDX53_000064 1/10563 1/6728 0/3835
1 c.1792G>A r.(?) p.(Val598Ile) g.23019966G>A Copied from the Exome Variant Server DDX53_000065 1/10563 1/6728 0/3835
1 c.1795G>A r.(?) p.(Val599Ile) g.23019969G>A Copied from the Exome Variant Server DDX53_000066 2/10563 0/6728 2/3835
1 c.1847G>A r.(?) p.(Arg616Gln) g.23020021G>A Copied from the Exome Variant Server DDX53_000067 2/10556 2/6721 0/3835
1 c.1854A>C r.(?) p.(Arg618Ser) g.23020028A>C Copied from the Exome Variant Server DDX53_000068 1/10556 0/6722 1/3834
1 c.1856A>G r.(?) p.(Lys619Arg) g.23020030A>G Copied from the Exome Variant Server DDX53_000069 1/10556 0/6722 1/3834
1 c.1863A>G r.(=) p.(=) g.23020037A>G Copied from the Exome Variant Server DDX53_000070 3/10552 0/6721 3/3831
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