All transcript variants in gene GPC5

Information The variants shown are described using the NM_004466.4 transcript reference sequence.

107 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-27_-26insG r.(=) p.(=) g.92051274_92051275insG Copied from the Exome Variant Server GPC5_000001 826/10754 525/7100 301/3654
?/? c.16T>C r.(?) p.(Trp6Arg) g.92051316T>C Copied from the Exome Variant Server GPC5_000002 2/12876 2/8532 0/4344
?/? c.22G>T r.(?) p.(Val8Leu) g.92051322G>T Copied from the Exome Variant Server GPC5_000003 1/12916 1/8554 0/4362
?/? c.57T>A r.(=) p.(=) g.92051357T>A Copied from the Exome Variant Server GPC5_000004 1/12988 1/8592 0/4396
?/? c.69C>T r.(=) p.(=) g.92051369C>T Copied from the Exome Variant Server GPC5_000005 8/12994 0/8596 8/4398
?/? c.93A>G r.(=) p.(=) g.92051393A>G Copied from the Exome Variant Server GPC5_000006 2/12998 0/8598 2/4400
?/? c.147G>T r.(=) p.(=) g.92051447G>T Copied from the Exome Variant Server GPC5_000007 1/12994 1/8596 0/4398
?/? c.153G>A r.(=) p.(=) g.92051453G>A Copied from the Exome Variant Server GPC5_000008 29/12990 0/8592 29/4398
?/? c.163+9C>T r.(=) p.(=) g.92051472C>T Copied from the Exome Variant Server GPC5_000009 1/12964 0/8572 1/4392
?/? c.163+36G>A r.(=) p.(=) g.92051499G>A Copied from the Exome Variant Server GPC5_000010 3/12876 0/8530 3/4346
?/? c.164-14G>A r.(=) p.(=) g.92101001G>A Copied from the Exome Variant Server GPC5_000011 3/13006 0/8600 3/4406
?/? c.166C>T r.(?) p.(Pro56Ser) g.92101017C>T Copied from the Exome Variant Server GPC5_000012 1/13006 0/8600 1/4406
?/? c.188C>T r.(?) p.(Ser63Phe) g.92101039C>T Copied from the Exome Variant Server GPC5_000013 1/13006 1/8600 0/4406
?/? c.212G>C r.(?) p.(Arg71Thr) g.92101063G>C Copied from the Exome Variant Server GPC5_000014 1/13006 0/8600 1/4406
?/? c.254T>A r.(?) p.(Met85Lys) g.92101105T>A Copied from the Exome Variant Server GPC5_000015 1/13006 1/8600 0/4406
?/? c.272C>T r.(?) p.(Thr91Met) g.92101123C>T Copied from the Exome Variant Server GPC5_000016 6/13006 5/8600 1/4406
?/? c.304C>T r.(?) p.(Arg102*) g.92101155C>T Copied from the Exome Variant Server GPC5_000017 1/13006 1/8600 0/4406
?/? c.320T>G r.(?) p.(Phe107Cys) g.92101171T>G Copied from the Exome Variant Server GPC5_000018 1/13006 0/8600 1/4406
?/? c.325+30G>T r.(=) p.(=) g.92101206G>T Copied from the Exome Variant Server GPC5_000019 105/13006 2/8600 103/4406
?/? c.325+37C>T r.(=) p.(=) g.92101213C>T Copied from the Exome Variant Server GPC5_000020 493/13006 437/8600 56/4406
?/? c.325+38G>A r.(=) p.(=) g.92101214G>A Copied from the Exome Variant Server GPC5_000021 7/13006 7/8600 0/4406
?/? c.325+44T>C r.(=) p.(=) g.92101220T>C Copied from the Exome Variant Server GPC5_000022 1/13006 1/8600 0/4406
?/? c.326-33C>T r.(=) p.(=) g.92345408C>T Copied from the Exome Variant Server GPC5_000023 1/13006 1/8600 0/4406
?/? c.326-9G>A r.(=) p.(=) g.92345432G>A Copied from the Exome Variant Server GPC5_000024 2/13006 0/8600 2/4406
?/? c.364A>G r.(?) p.(Thr122Ala) g.92345479A>G Copied from the Exome Variant Server GPC5_000025 1/13006 1/8600 0/4406
?/? c.377T>G r.(?) p.(Phe126Cys) g.92345492T>G Copied from the Exome Variant Server GPC5_000026 1/13006 1/8600 0/4406
?/? c.415G>C r.(?) p.(Ala139Pro) g.92345530G>C Copied from the Exome Variant Server GPC5_000027 3/13006 3/8600 0/4406
?/? c.420G>A r.(=) p.(=) g.92345535G>A Copied from the Exome Variant Server GPC5_000028 2/13006 2/8600 0/4406
?/? c.441T>C r.(=) p.(=) g.92345556T>C Copied from the Exome Variant Server GPC5_000029 16/13006 0/8600 16/4406
?/? c.445G>A r.(?) p.(Gly149Arg) g.92345560G>A Copied from the Exome Variant Server GPC5_000030 1/13006 1/8600 0/4406
?/? c.451T>C r.(?) p.(Tyr151His) g.92345566T>C Copied from the Exome Variant Server GPC5_000031 12/13006 10/8600 2/4406
?/? c.464C>T r.(?) p.(Ala155Val) g.92345579C>T Copied from the Exome Variant Server GPC5_000032 1792/13006 970/8600 822/4406
?/? c.475C>A r.(?) p.(Pro159Thr) g.92345590C>A Copied from the Exome Variant Server GPC5_000034 3/13006 3/8600 0/4406
?/? c.483A>G r.(=) p.(=) g.92345598A>G Copied from the Exome Variant Server GPC5_000036 68/13006 0/8600 68/4406
?/? c.504C>T r.(=) p.(=) g.92345619C>T Copied from the Exome Variant Server GPC5_000038 1/13006 0/8600 1/4406
?/? c.549G>T r.(=) p.(=) g.92345664G>T Copied from the Exome Variant Server GPC5_000040 1/13006 1/8600 0/4406
?/? c.553G>A r.(?) p.(Asp185Asn) g.92345668G>A Copied from the Exome Variant Server GPC5_000042 1/13006 0/8600 1/4406
?/? c.557G>T r.(?) p.(Ser186Ile) g.92345672G>T Copied from the Exome Variant Server GPC5_000045 10/13006 0/8600 10/4406
?/? c.594C>T r.(=) p.(=) g.92345709C>T Copied from the Exome Variant Server GPC5_000046 2/13006 0/8600 2/4406
?/? c.667C>T r.(?) p.(Arg223Cys) g.92345782C>T Copied from the Exome Variant Server GPC5_000048 1/13006 1/8600 0/4406
?/? c.685C>G r.(?) p.(Leu229Val) g.92345800C>G Copied from the Exome Variant Server GPC5_000050 1/13006 0/8600 1/4406
?/? c.687C>T r.(=) p.(=) g.92345802C>T Copied from the Exome Variant Server GPC5_000052 1/13006 0/8600 1/4406
?/? c.695G>T r.(?) p.(Gly232Val) g.92345810G>T Copied from the Exome Variant Server GPC5_000054 1/13006 1/8600 0/4406
?/? c.704T>C r.(?) p.(Val235Ala) g.92345819T>C Copied from the Exome Variant Server GPC5_000056 1/13006 0/8600 1/4406
?/? c.730T>G r.(?) p.(Phe244Val) g.92345845T>G Copied from the Exome Variant Server GPC5_000058 2/13006 0/8600 2/4406
?/? c.736A>G r.(?) p.(Lys246Glu) g.92345851A>G Copied from the Exome Variant Server GPC5_000061 1/13006 0/8600 1/4406
?/? c.746_752del r.(?) p.(Ser249Thrfs*3) g.92345861_92345867del Copied from the Exome Variant Server GPC5_000063 1/12516 1/8252 0/4264
?/? c.776C>T r.(?) p.(Pro259Leu) g.92345891C>T Copied from the Exome Variant Server GPC5_000033 1/13006 0/8600 1/4406
?/? c.788G>A r.(?) p.(Gly263Asp) g.92345903G>A Copied from the Exome Variant Server GPC5_000035 1/13006 1/8600 0/4406
?/? c.794C>T r.(?) p.(Ala265Val) g.92345909C>T Copied from the Exome Variant Server GPC5_000037 11/13006 0/8600 11/4406
?/? c.827A>G r.(?) p.(Asn276Ser) g.92345942A>G Copied from the Exome Variant Server GPC5_000039 1/13006 0/8600 1/4406
?/? c.848C>T r.(?) p.(Ala283Val) g.92345963C>T Copied from the Exome Variant Server GPC5_000041 1/13006 1/8600 0/4406
?/? c.849G>A r.(=) p.(=) g.92345964G>A Copied from the Exome Variant Server GPC5_000043 3/13006 3/8600 0/4406
?/? c.857C>T r.(?) p.(Ala286Val) g.92345972C>T Copied from the Exome Variant Server GPC5_000044 1/13006 0/8600 1/4406
?/? c.889C>T r.(?) p.(Arg297Trp) g.92346004C>T Copied from the Exome Variant Server GPC5_000047 2/13006 0/8600 2/4406
?/? c.890G>A r.(?) p.(Arg297Gln) g.92346005G>A Copied from the Exome Variant Server GPC5_000049 2/13006 2/8600 0/4406
?/? c.898G>A r.(?) p.(Glu300Lys) g.92346013G>A Copied from the Exome Variant Server GPC5_000051 3/13006 3/8600 0/4406
?/? c.909G>A r.(=) p.(=) g.92346024G>A Copied from the Exome Variant Server GPC5_000053 1/13006 0/8600 1/4406
?/? c.924A>G r.(=) p.(=) g.92346039A>G Copied from the Exome Variant Server GPC5_000055 5/13006 0/8600 5/4406
?/? c.935T>C r.(?) p.(Ile312Thr) g.92346050T>C Copied from the Exome Variant Server GPC5_000057 1/13006 0/8600 1/4406
?/? c.942C>T r.(=) p.(=) g.92346057C>T Copied from the Exome Variant Server GPC5_000059 1/13006 1/8600 0/4406
?/? c.949C>T r.(=) p.(=) g.92346064C>T Copied from the Exome Variant Server GPC5_000060 1/13006 0/8600 1/4406
?/? c.972T>C r.(=) p.(=) g.92346087T>C Copied from the Exome Variant Server GPC5_000062 1/13006 1/8600 0/4406
?/? c.986A>G r.(?) p.(Gln329Arg) g.92346101A>G Copied from the Exome Variant Server GPC5_000064 4/13006 0/8600 4/4406
?/? c.991C>T r.(?) p.(His331Tyr) g.92346106C>T Copied from the Exome Variant Server GPC5_000065 183/13006 2/8600 181/4406
?/? c.994C>G r.(?) p.(Leu332Val) g.92346109C>G Copied from the Exome Variant Server GPC5_000066 1/13006 0/8600 1/4406
?/? c.1008A>G r.(=) p.(=) g.92346123A>G Copied from the Exome Variant Server GPC5_000067 1/13006 1/8600 0/4406
?/? c.1020+4A>G r.spl? p.? g.92346139A>G Copied from the Exome Variant Server GPC5_000068 373/13006 183/8600 190/4406
?/? c.1021-44G>A r.(=) p.(=) g.92380742G>A Copied from the Exome Variant Server GPC5_000069 1/13006 1/8600 0/4406
?/? c.1021-37G>T r.(=) p.(=) g.92380749G>T Copied from the Exome Variant Server GPC5_000070 2/13006 0/8600 2/4406
?/? c.1038C>T r.(=) p.(=) g.92380803C>T Copied from the Exome Variant Server GPC5_000071 1/13006 1/8600 0/4406
?/? c.1052C>T r.(?) p.(Thr351Ile) g.92380817C>T Copied from the Exome Variant Server GPC5_000072 3/13006 3/8600 0/4406
?/? c.1064G>A r.(?) p.(Ser355Asn) g.92380829G>A Copied from the Exome Variant Server GPC5_000073 26/13006 24/8600 2/4406
?/? c.1068C>T r.(=) p.(=) g.92380833C>T Copied from the Exome Variant Server GPC5_000074 1/13006 1/8600 0/4406
?/? c.1099C>A r.(?) p.(His367Asn) g.92380864C>A Copied from the Exome Variant Server GPC5_000075 1/13006 0/8600 1/4406
?/? c.1111A>T r.(?) p.(Thr371Ser) g.92380876A>T Copied from the Exome Variant Server GPC5_000076 1/13006 0/8600 1/4406
?/? c.1118C>G r.(?) p.(Thr373Arg) g.92380883C>G Copied from the Exome Variant Server GPC5_000077 1/13006 0/8600 1/4406
?/? c.1120A>T r.(?) p.(Arg374Trp) g.92380885A>T Copied from the Exome Variant Server GPC5_000078 1/13006 0/8600 1/4406
?/? c.1131A>G r.(=) p.(=) g.92380896A>G Copied from the Exome Variant Server GPC5_000079 1/13006 0/8600 1/4406
?/? c.1136C>T r.(?) p.(Thr379Met) g.92380901C>T Copied from the Exome Variant Server GPC5_000080 2/13006 0/8600 2/4406
?/? c.1137G>A r.(=) p.(=) g.92380902G>A Copied from the Exome Variant Server GPC5_000081 1/13006 0/8600 1/4406
?/? c.1154+50A>C r.(=) p.(=) g.92380969A>C Copied from the Exome Variant Server GPC5_000082 2/13006 0/8600 2/4406
?/? c.1155-44T>G r.(=) p.(=) g.92408505T>G Copied from the Exome Variant Server GPC5_000083 4170/13002 3465/8598 705/4404
?/? c.1155-32G>A r.(=) p.(=) g.92408517G>A Copied from the Exome Variant Server GPC5_000084 3/13002 0/8596 3/4406
?/? c.1155-4T>G r.spl? p.? g.92408545T>G Copied from the Exome Variant Server GPC5_000085 1/13006 1/8600 0/4406
?/? c.1202T>C r.(?) p.(Leu401Pro) g.92408596T>C Copied from the Exome Variant Server GPC5_000087 1/13006 0/8600 1/4406
?/? c.1241A>G r.(?) p.(Asp414Gly) g.92408635A>G Copied from the Exome Variant Server GPC5_000089 1/13006 1/8600 0/4406
?/? c.1269T>C r.(=) p.(=) g.92408663T>C Copied from the Exome Variant Server GPC5_000091 1/13006 1/8600 0/4406
?/? c.1281-38C>G r.(=) p.(=) g.92560153C>G Copied from the Exome Variant Server GPC5_000086 1/7324 1/4612 0/2712
?/? c.1281-14_1281-13insT r.(=) p.(=) g.92560177_92560178insT Copied from the Exome Variant Server GPC5_000088 4/8458 2/5450 2/3008
?/? c.1334_1339del r.(?) p.(Val448_Lys449del) g.92560244_92560249del Copied from the Exome Variant Server GPC5_000090 1/8492 1/5536 0/2956
?/? c.1401+39T>C r.(=) p.(=) g.92560350T>C Copied from the Exome Variant Server GPC5_000092 1/7234 1/4548 0/2686
?/? c.1402-7C>T r.(=) p.(=) g.92797076C>T Copied from the Exome Variant Server GPC5_000093 1/13006 1/8600 0/4406
?/? c.1474G>C r.(?) p.(Glu492Gln) g.92797155G>C Copied from the Exome Variant Server GPC5_000094 1/13006 1/8600 0/4406
?/? c.1512C>T r.(=) p.(=) g.92797193C>T Copied from the Exome Variant Server GPC5_000095 1/13006 1/8600 0/4406
?/? c.1513G>A r.(?) p.(Gly505Arg) g.92797194G>A Copied from the Exome Variant Server GPC5_000096 2/13006 2/8600 0/4406
?/? c.1560C>A r.(?) p.(Asp520Glu) g.92797241C>A Copied from the Exome Variant Server GPC5_000097 2/13006 2/8600 0/4406
?/? c.1561+19C>T r.(=) p.(=) g.92797261C>T Copied from the Exome Variant Server GPC5_000098 4/13006 4/8600 0/4406
?/? c.1561+39G>T r.(=) p.(=) g.92797281G>T Copied from the Exome Variant Server GPC5_000099 28/13006 0/8600 28/4406
?/? c.1577T>C r.(?) p.(Met526Thr) g.93518550T>C Copied from the Exome Variant Server GPC5_000100 1/13006 0/8600 1/4406
Legend   « First ‹ Prev     1 2     Next › Last »