Full data view for gene GUCY2F

Information The variants shown are described using the NM_001522.2 transcript reference sequence.

155 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.-43C>T r.(=) p.(=) g.108719208G>A Copied from the Exome Variant Server GUCY2F_000145 1/10539 1/6710 0/3829 - - - - - - -
?/? c.-23A>G r.(=) p.(=) g.108719188T>C Copied from the Exome Variant Server GUCY2F_000143 1/10554 0/6720 1/3834 - - - - - - -
?/? c.2_3insTAT r.? p.? g.108719163_108719164insATA Copied from the Exome Variant Server GUCY2F_000141 2/10199 2/6482 0/3717 - - - - - - -
?/? c.112C>T r.(?) p.(Leu38Phe) g.108719054G>A Copied from the Exome Variant Server GUCY2F_000155 2/10563 1/6728 1/3835 - - - - - - -
?/? c.119C>G r.(?) p.(Ser40Cys) g.108719047G>C Copied from the Exome Variant Server GUCY2F_000138 82/10563 0/6728 82/3835 - - - - - - -
?/? c.220G>C r.(?) p.(Val74Leu) g.108718946C>G Copied from the Exome Variant Server GUCY2F_000154 66/10563 0/6728 66/3835 - - - - - - -
?/? c.256G>C r.(?) p.(Asp86His) g.108718910C>G Copied from the Exome Variant Server GUCY2F_000153 1/10563 1/6728 0/3835 - - - - - - -
?/? c.309C>T r.(=) p.(=) g.108718857G>A Copied from the Exome Variant Server GUCY2F_000152 1/10563 1/6728 0/3835 - - - - - - -
?/? c.315G>C r.(?) p.(Gln105His) g.108718851C>G Copied from the Exome Variant Server GUCY2F_000151 136/10563 1/6728 135/3835 - - - - - - -
?/? c.479T>A r.(?) p.(Ile160Asn) g.108718687A>T Copied from the Exome Variant Server GUCY2F_000150 59/10563 7/6728 52/3835 - - - - - - -
?/? c.505C>T r.(?) p.(Leu169Phe) g.108718661G>A Copied from the Exome Variant Server GUCY2F_000149 1/10563 1/6728 0/3835 - - - - - - -
?/? c.521G>A r.(?) p.(Arg174Gln) g.108718645C>T Copied from the Exome Variant Server GUCY2F_000148 3/10563 1/6728 2/3835 - - - - - - -
?/? c.542A>G r.(?) p.(Lys181Arg) g.108718624T>C Copied from the Exome Variant Server GUCY2F_000147 4/10563 4/6728 0/3835 - - - - - - -
?/? c.587A>G r.(?) p.(Asp196Gly) g.108718579T>C Copied from the Exome Variant Server GUCY2F_000146 1/10563 1/6728 0/3835 - - - - - - -
?/? c.612A>G r.(=) p.(=) g.108718554T>C Copied from the Exome Variant Server GUCY2F_000144 8/10563 0/6728 8/3835 - - - - - - -
?/? c.628C>T r.(?) p.(Arg210Trp) g.108718538G>A Copied from the Exome Variant Server GUCY2F_000142 1/10563 1/6728 0/3835 - - - - - - -
?/? c.636C>T r.(=) p.(=) g.108718530G>A Copied from the Exome Variant Server GUCY2F_000140 1/10563 1/6728 0/3835 - - - - - - -
?/? c.668G>A r.(?) p.(Gly223Glu) g.108718498C>T Copied from the Exome Variant Server GUCY2F_000139 7/10563 0/6728 7/3835 - - - - - - -
?/? c.688C>T r.(?) p.(Arg230Trp) g.108718478G>A Copied from the Exome Variant Server GUCY2F_000137 58/10563 7/6728 51/3835 - - - - - - -
?/? c.698T>C r.(?) p.(Leu233Pro) g.108718468A>G Copied from the Exome Variant Server GUCY2F_000135 1/10563 0/6728 1/3835 - - - - - - -
?/? c.714G>C r.(?) p.(Gln238His) g.108718452C>G Copied from the Exome Variant Server GUCY2F_000133 2/10563 2/6728 0/3835 - - - - - - -
?/? c.730+13T>C r.(=) p.(=) g.108718423A>G Copied from the Exome Variant Server GUCY2F_000131 8/10563 8/6728 0/3835 - - - - - - -
?/? c.766G>A r.(?) p.(Gly256Arg) g.108708637C>T Copied from the Exome Variant Server GUCY2F_000129 1/10563 0/6728 1/3835 - - - - - - -
?/? c.851T>C r.(?) p.(Leu284Pro) g.108708552A>G Copied from the Exome Variant Server GUCY2F_000127 2743/10563 2470/6728 273/3835 - - - - - - -
?/? c.887G>A r.(?) p.(Arg296Gln) g.108708516C>T Copied from the Exome Variant Server GUCY2F_000125 9337/10563 5598/6728 3739/3835 - - - - - - -
?/? c.913C>T r.(?) p.(Arg305Trp) g.108708490G>A Copied from the Exome Variant Server GUCY2F_000123 1/10563 0/6728 1/3835 - - - - - - -
?/? c.923A>G r.(?) p.(Tyr308Cys) g.108708480T>C Copied from the Exome Variant Server GUCY2F_000121 123/10563 1/6728 122/3835 - - - - - - -
?/? c.930A>G r.(=) p.(=) g.108708473T>C Copied from the Exome Variant Server GUCY2F_000119 44/10563 41/6728 3/3835 - - - - - - -
?/? c.969C>A r.(?) p.(Phe323Leu) g.108708434G>T Copied from the Exome Variant Server GUCY2F_000117 1/10563 0/6728 1/3835 - - - - - - -
?/? c.970T>C r.(?) p.(Tyr324His) g.108708433A>G Copied from the Exome Variant Server GUCY2F_000114 9/10563 9/6728 0/3835 - - - - - - -
?/? c.974A>G r.(?) p.(Gln325Arg) g.108708429T>C Copied from the Exome Variant Server GUCY2F_000136 1/10563 1/6728 0/3835 - - - - - - -
?/? c.994del r.(?) p.(Ala332Glnfs*32) g.108708409del Copied from the Exome Variant Server GUCY2F_000134 1/10205 1/6484 0/3721 - - - - - - -
?/? c.1014G>A r.(=) p.(=) g.108708389C>T Copied from the Exome Variant Server GUCY2F_000132 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1021G>C r.(?) p.(Glu341Gln) g.108708382C>G Copied from the Exome Variant Server GUCY2F_000130 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1026C>T r.(=) p.(=) g.108708377G>A Copied from the Exome Variant Server GUCY2F_000128 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1027G>A r.(?) p.(Asp343Asn) g.108708376C>T Copied from the Exome Variant Server GUCY2F_000126 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1031A>G r.(?) p.(Gln344Arg) g.108708372T>C Copied from the Exome Variant Server GUCY2F_000124 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1032+12T>G r.(=) p.(=) g.108708359A>C Copied from the Exome Variant Server GUCY2F_000122 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1032+23T>C r.(=) p.(=) g.108708348A>G Copied from the Exome Variant Server GUCY2F_000120 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1032+25A>G r.(=) p.(=) g.108708346T>C Copied from the Exome Variant Server GUCY2F_000118 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1033-47G>A r.(=) p.(=) g.108697135C>T Copied from the Exome Variant Server GUCY2F_000116 5/9789 5/6217 0/3572 - - - - - - -
?/? c.1033-40G>A r.(=) p.(=) g.108697128C>T Copied from the Exome Variant Server GUCY2F_000113 1/10022 1/6370 0/3652 - - - - - - -
?/? c.1033-2A>G r.spl? p.? g.108697090T>C Copied from the Exome Variant Server GUCY2F_000111 1/10527 0/6698 1/3829 - - - - - - -
?/? c.1048G>A r.(?) p.(Gly350Arg) g.108697073C>T Copied from the Exome Variant Server GUCY2F_000109 1/10559 1/6724 0/3835 - - - - - - -
?/? c.1077C>T r.(=) p.(=) g.108697044G>A Copied from the Exome Variant Server GUCY2F_000107 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1134G>T r.(=) p.(=) g.108696987C>A Copied from the Exome Variant Server GUCY2F_000105 11/10563 0/6728 11/3835 - - - - - - -
?/? c.1140G>T r.(?) p.(Gln380His) g.108696981C>A Copied from the Exome Variant Server GUCY2F_000103 502/10563 4/6728 498/3835 - - - - - - -
?/? c.1272G>A r.(=) p.(=) g.108696849C>T Copied from the Exome Variant Server GUCY2F_000101 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1294C>T r.(?) p.(Arg432Cys) g.108696827G>A Copied from the Exome Variant Server GUCY2F_000099 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1299C>T r.(=) p.(=) g.108696822G>A Copied from the Exome Variant Server GUCY2F_000097 13/10563 13/6728 0/3835 - - - - - - -
?/? c.1300G>A r.(?) p.(Gly434Arg) g.108696821C>T Copied from the Exome Variant Server GUCY2F_000095 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1308C>T r.(=) p.(=) g.108696813G>A Copied from the Exome Variant Server GUCY2F_000093 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1323T>A r.(=) p.(=) g.108696798A>T Copied from the Exome Variant Server GUCY2F_000091 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1355G>T r.(?) p.(Cys452Phe) g.108696766C>A Copied from the Exome Variant Server GUCY2F_000089 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1383T>C r.(=) p.(=) g.108696738A>G Copied from the Exome Variant Server GUCY2F_000087 148/10563 1/6728 147/3835 - - - - - - -
?/? c.1387+3A>C r.spl? p.? g.108696731T>G Copied from the Exome Variant Server GUCY2F_000115 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1388-34A>G r.(=) p.(=) g.108695370T>C Copied from the Exome Variant Server GUCY2F_000112 1/10555 0/6724 1/3831 - - - - - - -
?/? c.1392C>T r.(=) p.(=) g.108695332G>A Copied from the Exome Variant Server GUCY2F_000110 19/10562 18/6727 1/3835 - - - - - - -
?/? c.1436C>T r.(?) p.(Ala479Val) g.108695288G>A Copied from the Exome Variant Server GUCY2F_000108 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1472G>A r.(?) p.(Arg491Lys) g.108695252C>T Copied from the Exome Variant Server GUCY2F_000106 1/10560 1/6725 0/3835 - - - - - - -
?/? c.1475G>A r.(?) p.(Arg492His) g.108691392C>T Copied from the Exome Variant Server GUCY2F_000104 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1478G>A r.(?) p.(Arg493His) g.108691389C>T Copied from the Exome Variant Server GUCY2F_000102 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1483A>C r.(?) p.(Asn495His) g.108691384T>G Copied from the Exome Variant Server GUCY2F_000100 158/10563 0/6728 158/3835 - - - - - - -
?/? c.1541C>T r.(?) p.(Thr514Met) g.108691326G>A Copied from the Exome Variant Server GUCY2F_000098 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1542G>A r.(=) p.(=) g.108691325C>T Copied from the Exome Variant Server GUCY2F_000096 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1569G>C r.(?) p.(Lys523Asn) g.108691298C>G Copied from the Exome Variant Server GUCY2F_000094 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1569+29C>G r.(=) p.(=) g.108691269G>C Copied from the Exome Variant Server GUCY2F_000092 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1650A>G r.(=) p.(=) g.108684631T>C Copied from the Exome Variant Server GUCY2F_000090 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1692G>A r.(=) p.(=) g.108684589C>T Copied from the Exome Variant Server GUCY2F_000088 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1701+22T>G r.(=) p.(=) g.108684558A>C Copied from the Exome Variant Server GUCY2F_000086 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1702-32A>G r.(=) p.(=) g.108673657T>C Copied from the Exome Variant Server GUCY2F_000084 97/10563 0/6728 97/3835 - - - - - - -
?/? c.1720A>C r.(?) p.(Lys574Gln) g.108673607T>G Copied from the Exome Variant Server GUCY2F_000082 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1791+4T>C r.spl? p.? g.108673532A>G Copied from the Exome Variant Server GUCY2F_000080 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1791+10A>C r.(=) p.(=) g.108673526T>G Copied from the Exome Variant Server GUCY2F_000078 89/10563 1/6728 88/3835 - - - - - - -
?/? c.1791+16G>A r.(=) p.(=) g.108673520C>T Copied from the Exome Variant Server GUCY2F_000076 3/10563 1/6728 2/3835 - - - - - - -
?/? c.1791+40A>G r.(=) p.(=) g.108673496T>C Copied from the Exome Variant Server GUCY2F_000074 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1792-46T>G r.(=) p.(=) g.108652443A>C Copied from the Exome Variant Server GUCY2F_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1838T>A r.(?) p.(Phe613Tyr) g.108652351A>T Copied from the Exome Variant Server GUCY2F_000070 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1848G>C r.(=) p.(=) g.108652341C>G Copied from the Exome Variant Server GUCY2F_000068 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1883G>A r.(?) p.(Arg628Gln) g.108652306C>T Copied from the Exome Variant Server GUCY2F_000066 88/10563 80/6728 8/3835 - - - - - - -
?/? c.1887G>T r.(=) p.(=) g.108652302C>A Copied from the Exome Variant Server GUCY2F_000085 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1932G>T r.(?) p.(Trp644Cys) g.108652257C>A Copied from the Exome Variant Server GUCY2F_000083 6/10563 0/6728 6/3835 - - - - - - -
?/? c.2029G>C r.(?) p.(Val677Leu) g.108647653C>G Copied from the Exome Variant Server GUCY2F_000081 139/10563 1/6728 138/3835 - - - - - - -
?/? c.2041C>T r.(?) p.(Arg681Cys) g.108647641G>A Copied from the Exome Variant Server GUCY2F_000079 4/10563 0/6728 4/3835 - - - - - - -
?/? c.2050C>T r.(=) p.(=) g.108647632G>A Copied from the Exome Variant Server GUCY2F_000077 2/10563 1/6728 1/3835 - - - - - - -
?/? c.2068G>A r.(?) p.(Gly690Ser) g.108647614C>T Copied from the Exome Variant Server GUCY2F_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2119A>G r.(?) p.(Met707Val) g.108647563T>C Copied from the Exome Variant Server GUCY2F_000073 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2126-30T>C r.(=) p.(=) g.108641957A>G Copied from the Exome Variant Server GUCY2F_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2126-29G>T r.(=) p.(=) g.108641956C>A Copied from the Exome Variant Server GUCY2F_000069 44/10563 0/6728 44/3835 - - - - - - -
?/? c.2129T>A r.(?) p.(Leu710Gln) g.108641924A>T Copied from the Exome Variant Server GUCY2F_000067 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2138C>T r.(?) p.(Thr713Met) g.108641915G>A Copied from the Exome Variant Server GUCY2F_000065 4/10563 1/6728 3/3835 - - - - - - -
?/? c.2144C>T r.(?) p.(Pro715Leu) g.108641909G>A Copied from the Exome Variant Server GUCY2F_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2239G>T r.(?) p.(Gly747Cys) g.108641814C>A Copied from the Exome Variant Server GUCY2F_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2275+36A>G r.(=) p.(=) g.108641742T>C Copied from the Exome Variant Server GUCY2F_000062 11/10563 1/6728 10/3835 - - - - - - -
?/? c.2275+41G>A r.(=) p.(=) g.108641737C>T Copied from the Exome Variant Server GUCY2F_000061 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2275+44C>T r.(=) p.(=) g.108641734G>A Copied from the Exome Variant Server GUCY2F_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2275+45G>A r.(=) p.(=) g.108641733C>T Copied from the Exome Variant Server GUCY2F_000059 3/10563 1/6728 2/3835 - - - - - - -
?/? c.2276-40_2276-39insT r.(=) p.(=) g.108638757_108638758insA Copied from the Exome Variant Server GUCY2F_000058 5/10205 0/6484 5/3721 - - - - - - -
?/? c.2276-25C>T r.(=) p.(=) g.108638743G>A Copied from the Exome Variant Server GUCY2F_000057 37/10563 0/6728 37/3835 - - - - - - -
?/? c.2280C>T r.(=) p.(=) g.108638714G>A Copied from the Exome Variant Server GUCY2F_000056 1/10563 0/6728 1/3835 - - - - - - -
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