Unique variants in gene PSMG4

Information The variants shown are described using the NM_001128591.1 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.175-44C>T r.(=) p.(=) g.3263874C>T Copied from the Exome Variant Server PSMG4_000001 1/4566 0/3182 1/1384
1 c.175-29C>T r.(=) p.(=) g.3263889C>T Copied from the Exome Variant Server PSMG4_000002 1/4566 1/3182 0/1384
1 c.193A>G r.(?) p.(Thr65Ala) g.3263936A>G Copied from the Exome Variant Server PSMG4_000003 4/4566 0/3182 4/1384
1 c.222G>A r.(=) p.(=) g.3263965G>A Copied from the Exome Variant Server PSMG4_000004 2/4566 0/3182 2/1384
1 c.240C>T r.(=) p.(=) g.3263983C>T Copied from the Exome Variant Server PSMG4_000005 1/4566 1/3182 0/1384
1 c.250+9C>T r.(=) p.(=) g.3264002C>T Copied from the Exome Variant Server PSMG4_000006 1/4566 1/3182 0/1384
1 c.250+108A>G r.(=) p.(=) g.3264101A>G Copied from the Exome Variant Server PSMG4_000007 3078/4566 2558/3182 520/1384
1 c.250+404C>T r.(=) p.(=) g.3264397C>T Copied from the Exome Variant Server PSMG4_000008 13/4566 0/3182 13/1384
1 c.250+409G>A r.(=) p.(=) g.3264402G>A Copied from the Exome Variant Server PSMG4_000009 1/4566 1/3182 0/1384
1 c.250+444G>A r.(=) p.(=) g.3264437G>A Copied from the Exome Variant Server PSMG4_000010 2/4566 2/3182 0/1384
1 c.250+447C>G r.(=) p.(=) g.3264440C>G Copied from the Exome Variant Server PSMG4_000011 34/4566 1/3182 33/1384
1 c.250+463G>C r.(=) p.(=) g.3264456G>C Copied from the Exome Variant Server PSMG4_000012 3/4566 0/3182 3/1384
1 c.250+473G>T r.(=) p.(=) g.3264466G>T Copied from the Exome Variant Server PSMG4_000013 2/4566 0/3182 2/1384
1 c.250+494T>C r.(=) p.(=) g.3264487T>C Copied from the Exome Variant Server PSMG4_000014 3076/4566 2557/3182 519/1384
1 c.250+509G>C r.(=) p.(=) g.3264502G>C Copied from the Exome Variant Server PSMG4_000015 3054/4566 2556/3182 498/1384
1 c.250+531_250+532insT r.(=) p.(=) g.3264524_3264525insT Copied from the Exome Variant Server PSMG4_000016 4949/8316 4310/5320 639/2996
1 c.250+533C>T r.(=) p.(=) g.3264526C>T Copied from the Exome Variant Server PSMG4_000017 1807/4566 1752/3182 55/1384
1 c.250+534del r.(=) p.(=) g.3264527del Copied from the Exome Variant Server PSMG4_000018 4873/8210 4233/5242 640/2968
1 c.250+589G>A r.(=) p.(=) g.3264582G>A Copied from the Exome Variant Server PSMG4_000019 3076/4566 2558/3182 518/1384
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