Full data view for gene PPIL2

Information The variants shown are described using the NM_014337.3 transcript reference sequence.

199 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-73C>A r.(=) p.(=) g.22020316C>A Copied from the Exome Variant Server PPIL2_000001 24/4528 1/3154 23/1374 - - - - - - -
?/? c.-7C>T r.(=) p.(=) g.22020382C>T Copied from the Exome Variant Server PPIL2_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.25G>C r.(?) p.(Asp9His) g.22020413G>C Copied from the Exome Variant Server PPIL2_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.33-52C>T r.(=) p.(=) g.22024150C>T Copied from the Exome Variant Server PPIL2_000004 2334/10300 1752/7164 582/3136 - - - - - - -
?/? c.33-39A>G r.(=) p.(=) g.22024163A>G Copied from the Exome Variant Server PPIL2_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.82+3A>G r.spl? p.? g.22024254A>G Copied from the Exome Variant Server PPIL2_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.82+21G>A r.(=) p.(=) g.22024272G>A Copied from the Exome Variant Server PPIL2_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.82+28G>A r.(=) p.(=) g.22024279G>A Copied from the Exome Variant Server PPIL2_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.82+30T>C r.(=) p.(=) g.22024281T>C Copied from the Exome Variant Server PPIL2_000009 13/13006 1/8600 12/4406 - - - - - - -
?/? c.115T>C r.(?) p.(Phe39Leu) g.22024887T>C Copied from the Exome Variant Server PPIL2_000010 47/13004 0/8600 47/4404 - - - - - - -
?/? c.128+59_128+60insG r.(=) p.(=) g.22024959_22024960insG Copied from the Exome Variant Server PPIL2_000011 1/12514 0/8254 1/4260 - - - - - - -
?/? c.128+65T>A r.(=) p.(=) g.22024965T>A Copied from the Exome Variant Server PPIL2_000012 1/4566 1/3182 0/1384 - - - - - - -
?/? c.129-49C>G r.(=) p.(=) g.22025237C>G Copied from the Exome Variant Server PPIL2_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.129-41del r.(=) p.(=) g.22025245del Copied from the Exome Variant Server PPIL2_000014 61/12518 43/8254 18/4264 - - - - - - -
?/? c.129-21G>C r.(=) p.(=) g.22025265G>C Copied from the Exome Variant Server PPIL2_000015 2/13006 2/8600 0/4406 - - - - - - -
?/? c.129-12G>C r.(=) p.(=) g.22025274G>C Copied from the Exome Variant Server PPIL2_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.129-1G>T r.spl? p.? g.22025285G>T Copied from the Exome Variant Server PPIL2_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.153C>T r.(=) p.(=) g.22025310C>T Copied from the Exome Variant Server PPIL2_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.168C>T r.(=) p.(=) g.22025325C>T Copied from the Exome Variant Server PPIL2_000019 2/13006 2/8600 0/4406 - - - - - - -
?/? c.191+17A>T r.(=) p.(=) g.22025365A>T Copied from the Exome Variant Server PPIL2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.192-49G>C r.(=) p.(=) g.22026570G>C Copied from the Exome Variant Server PPIL2_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.192-47G>A r.(=) p.(=) g.22026572G>A Copied from the Exome Variant Server PPIL2_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.192-44G>A r.(=) p.(=) g.22026575G>A Copied from the Exome Variant Server PPIL2_000023 2/13006 0/8600 2/4406 - - - - - - -
?/? c.192-35C>T r.(=) p.(=) g.22026584C>T Copied from the Exome Variant Server PPIL2_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.227A>G r.(?) p.(Asn76Ser) g.22026654A>G Copied from the Exome Variant Server PPIL2_000025 15/13006 0/8600 15/4406 - - - - - - -
?/? c.230C>A r.(?) p.(Pro77His) g.22026657C>A Copied from the Exome Variant Server PPIL2_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237T>C r.(=) p.(=) g.22026664T>C Copied from the Exome Variant Server PPIL2_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.243+7G>A r.(=) p.(=) g.22026677G>A Copied from the Exome Variant Server PPIL2_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.243+11G>A r.(=) p.(=) g.22026681G>A Copied from the Exome Variant Server PPIL2_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.243+69G>A r.(=) p.(=) g.22026739G>A Copied from the Exome Variant Server PPIL2_000030 68/4566 44/3182 24/1384 - - - - - - -
?/? c.244-49C>T r.(=) p.(=) g.22029304C>T Copied from the Exome Variant Server PPIL2_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.289A>G r.(?) p.(Ser97Gly) g.22029398A>G Copied from the Exome Variant Server PPIL2_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.295+47A>G r.(=) p.(=) g.22029451A>G Copied from the Exome Variant Server PPIL2_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.295+66G>C r.(=) p.(=) g.22029470G>C Copied from the Exome Variant Server PPIL2_000034 3/4566 3/3182 0/1384 - - - - - - -
?/? c.296-33T>C r.(=) p.(=) g.22035555T>C Copied from the Exome Variant Server PPIL2_000035 103/13006 90/8600 13/4406 - - - - - - -
?/? c.315G>A r.(=) p.(=) g.22035607G>A Copied from the Exome Variant Server PPIL2_000036 2/13006 0/8600 2/4406 - - - - - - -
?/? c.348C>T r.(=) p.(=) g.22035640C>T Copied from the Exome Variant Server PPIL2_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.366C>T r.(=) p.(=) g.22035658C>T Copied from the Exome Variant Server PPIL2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.372C>T r.(=) p.(=) g.22035664C>T Copied from the Exome Variant Server PPIL2_000039 171/13006 0/8600 171/4406 - - - - - - -
?/? c.379G>A r.(?) p.(Ala127Thr) g.22035671G>A Copied from the Exome Variant Server PPIL2_000040 2/13006 2/8600 0/4406 - - - - - - -
?/? c.387+6T>C r.(=) p.(=) g.22035685T>C Copied from the Exome Variant Server PPIL2_000041 12/13006 1/8600 11/4406 - - - - - - -
?/? c.387+15C>T r.(=) p.(=) g.22035694C>T Copied from the Exome Variant Server PPIL2_000042 9/13006 3/8600 6/4406 - - - - - - -
?/? c.387+21G>A r.(=) p.(=) g.22035700G>A Copied from the Exome Variant Server PPIL2_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.388-29A>G r.(=) p.(=) g.22036697A>G Copied from the Exome Variant Server PPIL2_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.388-27C>T r.(=) p.(=) g.22036699C>T Copied from the Exome Variant Server PPIL2_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.388-7G>A r.(=) p.(=) g.22036719G>A Copied from the Exome Variant Server PPIL2_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.416A>G r.(?) p.(Lys139Arg) g.22036754A>G Copied from the Exome Variant Server PPIL2_000047 2/13006 0/8600 2/4406 - - - - - - -
?/? c.425G>A r.(?) p.(Arg142Gln) g.22036763G>A Copied from the Exome Variant Server PPIL2_000048 11/13006 10/8600 1/4406 - - - - - - -
?/? c.430C>T r.(=) p.(=) g.22036768C>T Copied from the Exome Variant Server PPIL2_000049 10/13006 7/8600 3/4406 - - - - - - -
?/? c.438_439insG r.(?) p.(Asp147Glyfs*25) g.22036776_22036777insG Copied from the Exome Variant Server PPIL2_000050 1/12518 1/8254 0/4264 - - - - - - -
?/? c.439G>A r.(?) p.(Asp147Asn) g.22036777G>A Copied from the Exome Variant Server PPIL2_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.442G>A r.(?) p.(Glu148Lys) g.22036780G>A Copied from the Exome Variant Server PPIL2_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.454C>A r.(=) p.(=) g.22036792C>A Copied from the Exome Variant Server PPIL2_000053 4/13006 4/8600 0/4406 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.22036812C>T Copied from the Exome Variant Server PPIL2_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.477+17T>C r.(=) p.(=) g.22036832T>C Copied from the Exome Variant Server PPIL2_000055 7490/13006 5220/8600 2270/4406 - - - - - - -
?/? c.477+40A>G r.(=) p.(=) g.22036855A>G Copied from the Exome Variant Server PPIL2_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.477+48C>A r.(=) p.(=) g.22036863C>A Copied from the Exome Variant Server PPIL2_000057 1/13004 1/8598 0/4406 - - - - - - -
?/? c.478-43G>A r.(=) p.(=) g.22037428G>A Copied from the Exome Variant Server PPIL2_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.505G>A r.(?) p.(Val169Ile) g.22037498G>A Copied from the Exome Variant Server PPIL2_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.531T>C r.(=) p.(=) g.22037524T>C Copied from the Exome Variant Server PPIL2_000060 12/13006 1/8600 11/4406 - - - - - - -
?/? c.553+27G>A r.(=) p.(=) g.22037573G>A Copied from the Exome Variant Server PPIL2_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.553+34G>A r.(=) p.(=) g.22037580G>A Copied from the Exome Variant Server PPIL2_000062 17/13006 0/8600 17/4406 - - - - - - -
?/? c.554-28G>A r.(=) p.(=) g.22039014G>A Copied from the Exome Variant Server PPIL2_000063 1/13000 1/8600 0/4400 - - - - - - -
?/? c.554-9G>A r.(=) p.(=) g.22039033G>A Copied from the Exome Variant Server PPIL2_000064 10/13006 0/8600 10/4406 - - - - - - -
?/? c.598A>G r.(?) p.(Thr200Ala) g.22039086A>G Copied from the Exome Variant Server PPIL2_000065 5/13006 0/8600 5/4406 - - - - - - -
?/? c.609G>A r.(=) p.(=) g.22039097G>A Copied from the Exome Variant Server PPIL2_000066 3/13006 0/8600 3/4406 - - - - - - -
?/? c.614G>T r.(?) p.(Arg205Leu) g.22039102G>T Copied from the Exome Variant Server PPIL2_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.628G>T r.(?) p.(Glu210*) g.22039116G>T Copied from the Exome Variant Server PPIL2_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.22039142C>T Copied from the Exome Variant Server PPIL2_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.655G>A r.(?) p.(Glu219Lys) g.22039143G>A Copied from the Exome Variant Server PPIL2_000070 8/13006 7/8600 1/4406 - - - - - - -
?/? c.683C>G r.(?) p.(Pro228Arg) g.22039171C>G Copied from the Exome Variant Server PPIL2_000071 2/13006 2/8600 0/4406 - - - - - - -
?/? c.711C>T r.(=) p.(=) g.22039199C>T Copied from the Exome Variant Server PPIL2_000072 1530/13004 1394/8600 136/4404 - - - - - - -
?/? c.714+9C>T r.(=) p.(=) g.22039211C>T Copied from the Exome Variant Server PPIL2_000073 9/13006 0/8600 9/4406 - - - - - - -
?/? c.714+10G>A r.(=) p.(=) g.22039212G>A Copied from the Exome Variant Server PPIL2_000074 30/13006 1/8600 29/4406 - - - - - - -
?/? c.714+17A>T r.(=) p.(=) g.22039219A>T Copied from the Exome Variant Server PPIL2_000075 24/13006 24/8600 0/4406 - - - - - - -
?/? c.714+20C>T r.(=) p.(=) g.22039222C>T Copied from the Exome Variant Server PPIL2_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.714+22G>A r.(=) p.(=) g.22039224G>A Copied from the Exome Variant Server PPIL2_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.714+38G>A r.(=) p.(=) g.22039240G>A Copied from the Exome Variant Server PPIL2_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.715-59G>A r.(=) p.(=) g.22040713G>A Copied from the Exome Variant Server PPIL2_000079 532/4566 479/3182 53/1384 - - - - - - -
?/? c.715-52C>T r.(=) p.(=) g.22040720C>T Copied from the Exome Variant Server PPIL2_000080 1/10300 1/7164 0/3136 - - - - - - -
?/? c.715-48A>G r.(=) p.(=) g.22040724A>G Copied from the Exome Variant Server PPIL2_000081 2/13006 2/8600 0/4406 - - - - - - -
?/? c.715-22G>A r.(=) p.(=) g.22040750G>A Copied from the Exome Variant Server PPIL2_000082 7/13006 7/8600 0/4406 - - - - - - -
?/? c.735G>A r.(=) p.(=) g.22040792G>A Copied from the Exome Variant Server PPIL2_000083 70/13006 0/8600 70/4406 - - - - - - -
?/? c.741C>T r.(=) p.(=) g.22040798C>T Copied from the Exome Variant Server PPIL2_000084 3/13006 0/8600 3/4406 - - - - - - -
?/? c.771G>A r.(=) p.(=) g.22040828G>A Copied from the Exome Variant Server PPIL2_000085 3/13006 0/8600 3/4406 - - - - - - -
?/? c.779C>T r.(?) p.(Thr260Ile) g.22040836C>T Copied from the Exome Variant Server PPIL2_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.781C>T r.(?) p.(His261Tyr) g.22040838C>T Copied from the Exome Variant Server PPIL2_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.790+19G>A r.(=) p.(=) g.22040866G>A Copied from the Exome Variant Server PPIL2_000088 2/13006 2/8600 0/4406 - - - - - - -
?/? c.791-15G>A r.(=) p.(=) g.22041166G>A Copied from the Exome Variant Server PPIL2_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.804G>A r.(=) p.(=) g.22041194G>A Copied from the Exome Variant Server PPIL2_000090 2/13006 0/8600 2/4406 - - - - - - -
?/? c.828_830del r.(?) p.(Lys279del) g.22041218_22041220del Copied from the Exome Variant Server PPIL2_000091 1/12518 1/8254 0/4264 - - - - - - -
?/? c.848G>A r.(?) p.(Arg283Gln) g.22041238G>A Copied from the Exome Variant Server PPIL2_000092 2/13006 2/8600 0/4406 - - - - - - -
?/? c.857C>T r.(?) p.(Thr286Ile) g.22041247C>T Copied from the Exome Variant Server PPIL2_000093 2/13006 2/8600 0/4406 - - - - - - -
?/? c.894C>T r.(=) p.(=) g.22041284C>T Copied from the Exome Variant Server PPIL2_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.897+35A>G r.(=) p.(=) g.22041322A>G Copied from the Exome Variant Server PPIL2_000095 2/13004 2/8600 0/4404 - - - - - - -
?/? c.898-50C>T r.(=) p.(=) g.22041882C>T Copied from the Exome Variant Server PPIL2_000096 149/12962 2/8572 147/4390 - - - - - - -
?/? c.898-47C>T r.(=) p.(=) g.22041885C>T Copied from the Exome Variant Server PPIL2_000097 1/12992 1/8594 0/4398 - - - - - - -
?/? c.898-43_898-42insG r.(=) p.(=) g.22041889_22041890insG Copied from the Exome Variant Server PPIL2_000098 34/12492 0/8238 34/4254 - - - - - - -
?/? c.898-40C>T r.(=) p.(=) g.22041892C>T Copied from the Exome Variant Server PPIL2_000099 1/13004 0/8600 1/4404 - - - - - - -
?/? c.898-37C>T r.(=) p.(=) g.22041895C>T Copied from the Exome Variant Server PPIL2_000100 1/13006 1/8600 0/4406 - - - - - - -
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