Unique variants in gene PYGO2

Information The variants shown are described using the NM_138300.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.104-38G>A r.(=) p.(=) g.154933540C>T Copied from the Exome Variant Server PYGO2_000041 1/13006 1/8600 0/4406
1 c.104-24G>A r.(=) p.(=) g.154933526C>T Copied from the Exome Variant Server PYGO2_000040 1/13006 0/8600 1/4406
1 c.142T>G r.(?) p.(Ser48Ala) g.154933464A>C Copied from the Exome Variant Server PYGO2_000039 1/13006 1/8600 0/4406
1 c.153+34G>A r.(=) p.(=) g.154933419C>T Copied from the Exome Variant Server PYGO2_000038 5/13006 5/8600 0/4406
1 c.154-31G>A r.(=) p.(=) g.154932353C>T Copied from the Exome Variant Server PYGO2_000037 1/13006 1/8600 0/4406
1 c.176C>T r.(?) p.(Thr59Met) g.154932300G>A Copied from the Exome Variant Server PYGO2_000036 1/13006 1/8600 0/4406
1 c.202A>G r.(?) p.(Met68Val) g.154932274T>C Copied from the Exome Variant Server PYGO2_000034 1/13006 0/8600 1/4406
1 c.214C>T r.(=) p.(=) g.154932262G>A Copied from the Exome Variant Server PYGO2_000032 1/13006 1/8600 0/4406
1 c.247G>A r.(?) p.(Gly83Arg) g.154932229C>T Copied from the Exome Variant Server PYGO2_000030 1/13006 1/8600 0/4406
1 c.248G>T r.(?) p.(Gly83Val) g.154932228C>A Copied from the Exome Variant Server PYGO2_000028 1/13006 1/8600 0/4406
1 c.257A>G r.(?) p.(Lys86Arg) g.154932219T>C Copied from the Exome Variant Server PYGO2_000026 1/13006 1/8600 0/4406
1 c.309C>T r.(=) p.(=) g.154932167G>A Copied from the Exome Variant Server PYGO2_000024 1/12998 1/8596 0/4402
1 c.343C>T r.(?) p.(Pro115Ser) g.154932133G>A Copied from the Exome Variant Server PYGO2_000022 2/12934 0/8548 2/4386
1 c.375C>T r.(=) p.(=) g.154932101G>A Copied from the Exome Variant Server PYGO2_000020 13/12966 0/8574 13/4392
1 c.409C>T r.(?) p.(Pro137Ser) g.154932067G>A Copied from the Exome Variant Server PYGO2_000018 1/13002 0/8600 1/4402
1 c.423G>A r.(?) p.(Met141Ile) g.154932053C>T Copied from the Exome Variant Server PYGO2_000016 22/13002 3/8598 19/4404
1 c.427C>T r.(?) p.(Pro143Ser) g.154932049G>A Copied from the Exome Variant Server PYGO2_000014 1/13002 0/8598 1/4404
1 c.451G>C r.(?) p.(Gly151Arg) g.154932025C>G Copied from the Exome Variant Server PYGO2_000012 11/13006 0/8600 11/4406
1 c.503A>G r.(?) p.(Asn168Ser) g.154931973T>C Copied from the Exome Variant Server PYGO2_000035 1/13006 0/8600 1/4406
1 c.551C>T r.(?) p.(Pro184Leu) g.154931925G>A Copied from the Exome Variant Server PYGO2_000033 2/13006 1/8600 1/4406
1 c.552G>A r.(=) p.(=) g.154931924C>T Copied from the Exome Variant Server PYGO2_000031 14/13006 13/8600 1/4406
1 c.620G>C r.(?) p.(Gly207Ala) g.154931856C>G Copied from the Exome Variant Server PYGO2_000029 1/13006 1/8600 0/4406
1 c.629C>T r.(?) p.(Ser210Phe) g.154931847G>A Copied from the Exome Variant Server PYGO2_000027 2/13006 2/8600 0/4406
1 c.658G>T r.(?) p.(Ala220Ser) g.154931818C>A Copied from the Exome Variant Server PYGO2_000025 1/13006 1/8600 0/4406
1 c.684G>A r.(=) p.(=) g.154931792C>T Copied from the Exome Variant Server PYGO2_000023 1/13006 1/8600 0/4406
1 c.705C>T r.(=) p.(=) g.154931771G>A Copied from the Exome Variant Server PYGO2_000021 1/13006 0/8600 1/4406
1 c.713C>T r.(?) p.(Pro238Leu) g.154931763G>A Copied from the Exome Variant Server PYGO2_000019 1/13006 0/8600 1/4406
1 c.719A>T r.(?) p.(Asn240Ile) g.154931757T>A Copied from the Exome Variant Server PYGO2_000017 1/13006 0/8600 1/4406
1 c.740C>T r.(?) p.(Pro247Leu) g.154931736G>A Copied from the Exome Variant Server PYGO2_000015 1/13002 1/8600 0/4402
1 c.744C>G r.(?) p.(Asp248Glu) g.154931732G>C Copied from the Exome Variant Server PYGO2_000013 3/13002 3/8600 0/4402
1 c.828C>G r.(?) p.(His276Gln) g.154931648G>C Copied from the Exome Variant Server PYGO2_000011 1/12962 0/8576 1/4386
1 c.873C>T r.(=) p.(=) g.154931603G>A Copied from the Exome Variant Server PYGO2_000010 23/12950 0/8570 23/4380
1 c.972A>G r.(=) p.(=) g.154931504T>C Copied from the Exome Variant Server PYGO2_000009 1/13006 1/8600 0/4406
1 c.1000C>T r.(?) p.(Arg334Trp) g.154931476G>A Copied from the Exome Variant Server PYGO2_000008 1/13006 1/8600 0/4406
1 c.1066C>T r.(?) p.(Arg356Cys) g.154931410G>A Copied from the Exome Variant Server PYGO2_000007 1/13006 0/8600 1/4406
1 c.1088A>C r.(?) p.(Glu363Ala) g.154931388T>G Copied from the Exome Variant Server PYGO2_000006 3/13006 0/8600 3/4406
1 c.1121C>G r.(?) p.(Ser374Cys) g.154931355G>C Copied from the Exome Variant Server PYGO2_000005 1/13006 1/8600 0/4406
1 c.1189A>G r.(?) p.(Met397Val) g.154931287T>C Copied from the Exome Variant Server PYGO2_000004 2/13006 2/8600 0/4406
1 c.1212C>T r.(=) p.(=) g.154931264G>A Copied from the Exome Variant Server PYGO2_000003 1/13006 0/8600 1/4406
1 c.*9A>C r.(=) p.(=) g.154931246T>G Copied from the Exome Variant Server PYGO2_000002 3/13006 0/8600 3/4406
1 c.*48C>T r.(=) p.(=) g.154931207G>A Copied from the Exome Variant Server PYGO2_000001 5/13006 5/8600 0/4406
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