Unique variants in gene GPA33

Information The variants shown are described using the NM_005814.1 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
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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.-51C>A r.(=) p.(=) g.167059575G>T Copied from the Exome Variant Server GPA33_000100 5661/13006 3679/8600 1982/4406
1 c.-14G>C r.(=) p.(=) g.167059538C>G Copied from the Exome Variant Server GPA33_000099 1/13006 1/8600 0/4406
1 c.14T>C r.(?) p.(Met5Thr) g.167059511A>G Copied from the Exome Variant Server GPA33_000098 2/13006 0/8600 2/4406
1 c.43+8G>A r.(=) p.(=) g.167059474C>T Copied from the Exome Variant Server GPA33_000097 11/13006 0/8600 11/4406
1 c.43+20C>G r.(=) p.(=) g.167059462G>C Copied from the Exome Variant Server GPA33_000096 6639/13006 4267/8600 2372/4406
1 c.43+28C>G r.(=) p.(=) g.167059454G>C Copied from the Exome Variant Server GPA33_000095 1/13006 1/8600 0/4406
1 c.43+38G>A r.(=) p.(=) g.167059444C>T Copied from the Exome Variant Server GPA33_000094 107/13006 98/8600 9/4406
1 c.43+39G>A r.(=) p.(=) g.167059443C>T Copied from the Exome Variant Server GPA33_000093 7/13006 7/8600 0/4406
1 c.43+47T>A r.(=) p.(=) g.167059435A>T Copied from the Exome Variant Server GPA33_000092 4/13006 3/8600 1/4406
1 c.43+49G>A r.(=) p.(=) g.167059433C>T Copied from the Exome Variant Server GPA33_000091 4/13006 0/8600 4/4406
1 c.44-50G>A r.(=) p.(=) g.167042826C>T Copied from the Exome Variant Server GPA33_000089 2/13006 0/8600 2/4406
1 c.44-16C>T r.(=) p.(=) g.167042792G>A Copied from the Exome Variant Server GPA33_000087 5/13006 5/8600 0/4406
1 c.55G>A r.(?) p.(Val19Ile) g.167042765C>T Copied from the Exome Variant Server GPA33_000085 31/13006 1/8600 30/4406
1 c.57C>T r.(=) p.(=) g.167042763G>A Copied from the Exome Variant Server GPA33_000083 1/13006 0/8600 1/4406
1 c.58G>A r.(?) p.(Asp20Asn) g.167042762C>T Copied from the Exome Variant Server GPA33_000081 1192/13006 954/8600 238/4406
1 c.81G>A r.(=) p.(=) g.167042739C>T Copied from the Exome Variant Server GPA33_000079 1/13006 1/8600 0/4406
1 c.131C>T r.(?) p.(Thr44Ile) g.167042689G>A Copied from the Exome Variant Server GPA33_000077 1/13006 1/8600 0/4406
1 c.147C>A r.(=) p.(=) g.167042673G>T Copied from the Exome Variant Server GPA33_000075 1/13006 1/8600 0/4406
1 c.152G>A r.(?) p.(Ser51Asn) g.167042668C>T Copied from the Exome Variant Server GPA33_000073 1/13006 0/8600 1/4406
1 c.191C>T r.(?) p.(Thr64Ile) g.167042629G>A Copied from the Exome Variant Server GPA33_000071 1/13006 1/8600 0/4406
1 c.198G>A r.(=) p.(=) g.167042622C>T Copied from the Exome Variant Server GPA33_000069 1/13006 1/8600 0/4406
1 c.198+14A>G r.(=) p.(=) g.167042608T>C Copied from the Exome Variant Server GPA33_000090 4/13006 0/8600 4/4406
1 c.198+32G>A r.(=) p.(=) g.167042590C>T Copied from the Exome Variant Server GPA33_000088 2776/13006 1957/8600 819/4406
1 c.199-31G>T r.(=) p.(=) g.167038406C>A Copied from the Exome Variant Server GPA33_000086 1/13006 1/8600 0/4406
1 c.210C>T r.(=) p.(=) g.167038364G>A Copied from the Exome Variant Server GPA33_000084 4/13006 3/8600 1/4406
1 c.218C>G r.(?) p.(Pro73Arg) g.167038356G>C Copied from the Exome Variant Server GPA33_000082 2/13006 2/8600 0/4406
1 c.219G>A r.(=) p.(=) g.167038355C>T Copied from the Exome Variant Server GPA33_000080 12/13006 1/8600 11/4406
1 c.234C>G r.(?) p.(Asn78Lys) g.167038340G>C Copied from the Exome Variant Server GPA33_000078 1/13006 1/8600 0/4406
1 c.243T>C r.(=) p.(=) g.167038331A>G Copied from the Exome Variant Server GPA33_000076 1/13006 1/8600 0/4406
1 c.264C>T r.(=) p.(=) g.167038310G>A Copied from the Exome Variant Server GPA33_000074 3/13006 3/8600 0/4406
1 c.265G>A r.(?) p.(Val89Ile) g.167038309C>T Copied from the Exome Variant Server GPA33_000072 2/13006 1/8600 1/4406
1 c.268del r.(?) p.(Ser90Alafs*18) g.167038306del Copied from the Exome Variant Server GPA33_000070 5/12520 0/8254 5/4266
1 c.279C>T r.(=) p.(=) g.167038295G>A Copied from the Exome Variant Server GPA33_000068 1/13006 0/8600 1/4406
1 c.291G>A r.(=) p.(=) g.167038283C>T Copied from the Exome Variant Server GPA33_000067 1/13006 1/8600 0/4406
1 c.294C>T r.(=) p.(=) g.167038280G>A Copied from the Exome Variant Server GPA33_000066 1/13006 1/8600 0/4406
1 c.345C>T r.(=) p.(=) g.167038229G>A Copied from the Exome Variant Server GPA33_000065 2/13006 0/8600 2/4406
1 c.350G>A r.(?) p.(Cys117Tyr) g.167038224C>T Copied from the Exome Variant Server GPA33_000064 1/13006 1/8600 0/4406
1 c.355G>T r.(?) p.(Val119Phe) g.167038219C>A Copied from the Exome Variant Server GPA33_000063 148/13006 135/8600 13/4406
1 c.384C>G r.(?) p.(Asn128Lys) g.167038190G>C Copied from the Exome Variant Server GPA33_000062 1/13006 1/8600 0/4406
1 c.400C>T r.(?) p.(Arg134Cys) g.167038174G>A Copied from the Exome Variant Server GPA33_000061 1/13006 0/8600 1/4406
1 c.401G>A r.(?) p.(Arg134His) g.167038173C>T Copied from the Exome Variant Server GPA33_000060 8/13006 4/8600 4/4406
1 c.415G>A r.(?) p.(Val139Met) g.167038159C>T Copied from the Exome Variant Server GPA33_000059 6/13006 0/8600 6/4406
1 c.415+38G>A r.(=) p.(=) g.167038121C>T Copied from the Exome Variant Server GPA33_000058 139/13006 127/8600 12/4406
1 c.416-30T>C r.(=) p.(=) g.167033004A>G Copied from the Exome Variant Server GPA33_000057 4/13006 0/8600 4/4406
1 c.425C>T r.(?) p.(Ser142Phe) g.167032965G>A Copied from the Exome Variant Server GPA33_000056 1/13006 1/8600 0/4406
1 c.440G>A r.(?) p.(Gly147Asp) g.167032950C>T Copied from the Exome Variant Server GPA33_000055 1/13006 1/8600 0/4406
1 c.457A>T r.(?) p.(Ile153Leu) g.167032933T>A Copied from the Exome Variant Server GPA33_000054 1/13006 1/8600 0/4406
1 c.478C>T r.(=) p.(=) g.167032912G>A Copied from the Exome Variant Server GPA33_000053 1/13006 0/8600 1/4406
1 c.482C>A r.(?) p.(Thr161Asn) g.167032908G>T Copied from the Exome Variant Server GPA33_000052 10/13006 0/8600 10/4406
1 c.489A>G r.(=) p.(=) g.167032901T>C Copied from the Exome Variant Server GPA33_000051 5/13006 0/8600 5/4406
1 c.495G>T r.(?) p.(Lys165Asn) g.167032895C>A Copied from the Exome Variant Server GPA33_000050 250/13006 1/8600 249/4406
1 c.564C>A r.(=) p.(=) g.167032826G>T Copied from the Exome Variant Server GPA33_000049 1/13006 1/8600 0/4406
1 c.571+9_571+10insG r.(=) p.(=) g.167032809_167032810insC Copied from the Exome Variant Server GPA33_000048 1/12520 1/8254 0/4266
1 c.571+15G>C r.(=) p.(=) g.167032804C>G Copied from the Exome Variant Server GPA33_000047 1/13006 1/8600 0/4406
1 c.571+23G>A r.(=) p.(=) g.167032796C>T Copied from the Exome Variant Server GPA33_000046 2001/13006 1607/8600 394/4406
1 c.571+33C>T r.(=) p.(=) g.167032786G>A Copied from the Exome Variant Server GPA33_000045 1/13006 0/8600 1/4406
1 c.571+43C>T r.(=) p.(=) g.167032776G>A Copied from the Exome Variant Server GPA33_000044 1/13006 0/8600 1/4406
1 c.572-14T>C r.(=) p.(=) g.167025100A>G Copied from the Exome Variant Server GPA33_000043 39/13006 35/8600 4/4406
1 c.590C>T r.(?) p.(Ser197Phe) g.167025068G>A Copied from the Exome Variant Server GPA33_000042 1/13006 0/8600 1/4406
1 c.607A>G r.(?) p.(Thr203Ala) g.167025051T>C Copied from the Exome Variant Server GPA33_000041 1/13006 0/8600 1/4406
1 c.608C>T r.(?) p.(Thr203Ile) g.167025050G>A Copied from the Exome Variant Server GPA33_000039 19/13006 18/8600 1/4406
1 c.618G>A r.(=) p.(=) g.167025040C>T Copied from the Exome Variant Server GPA33_000037 6/13006 6/8600 0/4406
1 c.633T>C r.(=) p.(=) g.167025025A>G Copied from the Exome Variant Server GPA33_000034 1/13006 1/8600 0/4406
1 c.656C>T r.(?) p.(Thr219Met) g.167025002G>A Copied from the Exome Variant Server GPA33_000031 1/13006 1/8600 0/4406
1 c.675G>T r.(=) p.(=) g.167024983C>A Copied from the Exome Variant Server GPA33_000028 2/13006 0/8600 2/4406
1 c.681C>T r.(=) p.(=) g.167024977G>A Copied from the Exome Variant Server GPA33_000025 1/13006 1/8600 0/4406
1 c.687A>C r.(?) p.(Arg229Ser) g.167024971T>G Copied from the Exome Variant Server GPA33_000022 2/13006 0/8600 2/4406
1 c.691+11C>T r.(=) p.(=) g.167024956G>A Copied from the Exome Variant Server GPA33_000020 3/13006 3/8600 0/4406
1 c.691+16G>A r.(=) p.(=) g.167024951C>T Copied from the Exome Variant Server GPA33_000016 72/13006 5/8600 67/4406
1 c.691+21del r.(=) p.(=) g.167024946del Copied from the Exome Variant Server GPA33_000014 129/12520 117/8254 12/4266
1 c.691+23G>A r.(=) p.(=) g.167024944C>T Copied from the Exome Variant Server GPA33_000040 46/13006 0/8600 46/4406
1 c.691+34C>T r.(=) p.(=) g.167024933G>A Copied from the Exome Variant Server GPA33_000036 2/13006 2/8600 0/4406
1 c.691+35G>A r.(=) p.(=) g.167024932C>T Copied from the Exome Variant Server GPA33_000032 3/13006 2/8600 1/4406
1 c.692-50del r.(=) p.(=) g.167024398del Copied from the Exome Variant Server GPA33_000029 4/12520 4/8254 0/4266
1 c.692-30G>A r.(=) p.(=) g.167024378C>T Copied from the Exome Variant Server GPA33_000026 1/13006 1/8600 0/4406
1 c.692-15T>C r.(=) p.(=) g.167024363A>G Copied from the Exome Variant Server GPA33_000024 1/13006 1/8600 0/4406
1 c.692-12G>A r.(=) p.(=) g.167024360C>T Copied from the Exome Variant Server GPA33_000023 1/13006 0/8600 1/4406
1 c.724G>A r.(?) p.(Ala242Thr) g.167024316C>T Copied from the Exome Variant Server GPA33_000021 1/13006 1/8600 0/4406
1 c.748A>G r.(?) p.(Ile250Val) g.167024292T>C Copied from the Exome Variant Server GPA33_000019 1/13006 0/8600 1/4406
1 c.793G>A r.(?) p.(Asp265Asn) g.167024247C>T Copied from the Exome Variant Server GPA33_000018 1/13006 1/8600 0/4406
1 c.795C>T r.(=) p.(=) g.167024245G>A Copied from the Exome Variant Server GPA33_000017 1/13006 1/8600 0/4406
1 c.796G>A r.(?) p.(Asp266Asn) g.167024244C>T Copied from the Exome Variant Server GPA33_000015 2/13006 1/8600 1/4406
1 c.798C>T r.(=) p.(=) g.167024242G>A Copied from the Exome Variant Server GPA33_000013 1/13006 1/8600 0/4406
1 c.827+1G>T r.spl? p.? g.167024212C>A Copied from the Exome Variant Server GPA33_000012 2/13006 2/8600 0/4406
1 c.827+15T>C r.(=) p.(=) g.167024198A>G Copied from the Exome Variant Server GPA33_000011 1/13006 0/8600 1/4406
1 c.827+27G>A r.(=) p.(=) g.167024186C>T Copied from the Exome Variant Server GPA33_000010 1/13006 0/8600 1/4406
1 c.827+33G>A r.(=) p.(=) g.167024180C>T Copied from the Exome Variant Server GPA33_000009 1/13006 1/8600 0/4406
1 c.828-8C>T r.(=) p.(=) g.167023711G>A Copied from the Exome Variant Server GPA33_000008 1/13006 0/8600 1/4406
1 c.843T>C r.(=) p.(=) g.167023688A>G Copied from the Exome Variant Server GPA33_000007 1/13006 0/8600 1/4406
1 c.851C>T r.(?) p.(Pro284Leu) g.167023680G>A Copied from the Exome Variant Server GPA33_000006 7/13006 0/8600 7/4406
1 c.886G>A r.(?) p.(Glu296Lys) g.167023645C>T Copied from the Exome Variant Server GPA33_000005 1/13006 1/8600 0/4406
1 c.894G>A r.(=) p.(=) g.167023637C>T Copied from the Exome Variant Server GPA33_000004 2/13006 2/8600 0/4406
1 c.920G>A r.(?) p.(Arg307Lys) g.167023611C>T Copied from the Exome Variant Server GPA33_000003 1/13006 0/8600 1/4406
1 c.931C>T r.(?) p.(Arg311Cys) g.167023600G>A Copied from the Exome Variant Server GPA33_000002 1/13006 0/8600 1/4406
1 c.941C>T r.(?) p.(Pro314Leu) g.167023590G>A Copied from the Exome Variant Server GPA33_000001 11/13006 0/8600 11/4406
1 c.*15A>G r.(=) p.(=) g.167023556T>C Copied from the Exome Variant Server GPA33_000038 7/13006 0/8600 7/4406
1 c.*19C>T r.(=) p.(=) g.167023552G>A Copied from the Exome Variant Server GPA33_000035 1/13006 0/8600 1/4406
1 c.*37G>A r.(=) p.(=) g.167023534C>T Copied from the Exome Variant Server GPA33_000033 1/13006 1/8600 0/4406
1 c.*50C>T r.(=) p.(=) g.167023521G>A Copied from the Exome Variant Server GPA33_000030 1/13006 1/8600 0/4406
1 c.*51G>A r.(=) p.(=) g.167023520C>T Copied from the Exome Variant Server GPA33_000027 1/13006 1/8600 0/4406
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