All transcript variants in gene DEFB125

Information The variants shown are described using the NM_153325.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.13A>T r.(?) p.(Met5Leu) g.68363A>T Copied from the Exome Variant Server DEFB125_000001 1/13006 1/8600 0/4406
?/? c.46C>T r.(?) p.(Arg16Trp) g.68396C>T Copied from the Exome Variant Server DEFB125_000002 16/13006 14/8600 2/4406
?/? c.58+5T>C r.spl? p.? g.68413T>C Copied from the Exome Variant Server DEFB125_000003 1/13006 1/8600 0/4406
?/? c.59-46G>A r.(=) p.(=) g.76600G>A Copied from the Exome Variant Server DEFB125_000004 1/12998 1/8598 0/4400
?/? c.59-17T>C r.(=) p.(=) g.76629T>C Copied from the Exome Variant Server DEFB125_000005 1/13006 1/8600 0/4406
?/? c.59-6C>T r.(=) p.(=) g.76640C>T Copied from the Exome Variant Server DEFB125_000006 1/13006 0/8600 1/4406
?/? c.102T>C r.(=) p.(=) g.76689T>C Copied from the Exome Variant Server DEFB125_000007 16/13006 0/8600 16/4406
?/? c.116G>A r.(?) p.(Cys39Tyr) g.76703G>A Copied from the Exome Variant Server DEFB125_000008 1/13006 1/8600 0/4406
?/? c.137T>C r.(?) p.(Ile46Thr) g.76724T>C Copied from the Exome Variant Server DEFB125_000009 1/13006 0/8600 1/4406
?/? c.179T>C r.(?) p.(Ile60Thr) g.76766T>C Copied from the Exome Variant Server DEFB125_000010 3/13006 3/8600 0/4406
?/? c.184C>T r.(?) p.(His62Tyr) g.76771C>T Copied from the Exome Variant Server DEFB125_000011 29/13006 29/8600 0/4406
?/? c.199C>T r.(?) p.(Arg67*) g.76786C>T Copied from the Exome Variant Server DEFB125_000012 1/13006 0/8600 1/4406
?/? c.251A>G r.(?) p.(Asp84Gly) g.76838A>G Copied from the Exome Variant Server DEFB125_000013 1/13006 1/8600 0/4406
?/? c.297G>T r.(=) p.(=) g.76884G>T Copied from the Exome Variant Server DEFB125_000014 1/13006 1/8600 0/4406
?/? c.333G>A r.(?) p.(Met111Ile) g.76920G>A Copied from the Exome Variant Server DEFB125_000015 13/13006 0/8600 13/4406
?/? c.347A>G r.(?) p.(Asn116Ser) g.76934A>G Copied from the Exome Variant Server DEFB125_000016 1/13006 0/8600 1/4406
?/? c.375T>C r.(=) p.(=) g.76962T>C Copied from the Exome Variant Server DEFB125_000017 10599/13006 7003/8600 3596/4406
?/? c.391G>A r.(?) p.(Glu131Lys) g.76978G>A Copied from the Exome Variant Server DEFB125_000018 1/13006 1/8600 0/4406
?/? c.426C>T r.(=) p.(=) g.77013C>T Copied from the Exome Variant Server DEFB125_000019 187/13006 175/8600 12/4406
?/? c.438A>G r.(=) p.(=) g.77025A>G Copied from the Exome Variant Server DEFB125_000020 6/13006 6/8600 0/4406
?/? c.*24A>C r.(=) p.(=) g.77082A>C Copied from the Exome Variant Server DEFB125_000021 2/13006 0/8600 2/4406
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