Full data view for gene GRM8

Information The variants shown are described using the NM_000845.2 transcript reference sequence.

161 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.-12C>T r.(=) p.(=) g.126883270G>A Copied from the Exome Variant Server GRM8_000157 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-6G>A r.(=) p.(=) g.126883264C>T Copied from the Exome Variant Server GRM8_000155 1/13006 1/8600 0/4406 - - - - - - -
?/? c.10G>A r.(?) p.(Glu4Lys) g.126883249C>T Copied from the Exome Variant Server GRM8_000154 3/13006 1/8600 2/4406 - - - - - - -
?/? c.20G>A r.(?) p.(Arg7Gln) g.126883239C>T Copied from the Exome Variant Server GRM8_000161 5/13006 4/8600 1/4406 - - - - - - -
?/? c.35C>A r.(?) p.(Pro12His) g.126883224G>T Copied from the Exome Variant Server GRM8_000160 1/13006 1/8600 0/4406 - - - - - - -
?/? c.54C>T r.(=) p.(=) g.126883205G>A Copied from the Exome Variant Server GRM8_000159 2/13006 2/8600 0/4406 - - - - - - -
?/? c.59A>G r.(?) p.(Lys20Arg) g.126883200T>C Copied from the Exome Variant Server GRM8_000158 2/13006 1/8600 1/4406 - - - - - - -
?/? c.79A>G r.(?) p.(Met27Val) g.126883180T>C Copied from the Exome Variant Server GRM8_000156 2/13006 0/8600 2/4406 - - - - - - -
?/? c.96C>G r.(?) p.(His32Gln) g.126883163G>C Copied from the Exome Variant Server GRM8_000153 66/13006 0/8600 66/4406 - - - - - - -
?/? c.147G>T r.(=) p.(=) g.126883112C>A Copied from the Exome Variant Server GRM8_000152 4/13006 4/8600 0/4406 - - - - - - -
?/? c.151C>A r.(?) p.(Leu51Ile) g.126883108G>T Copied from the Exome Variant Server GRM8_000151 1/13006 1/8600 0/4406 - - - - - - -
?/? c.165C>T r.(=) p.(=) g.126883094G>A Copied from the Exome Variant Server GRM8_000150 1/13006 1/8600 0/4406 - - - - - - -
?/? c.168A>G r.(=) p.(=) g.126883091T>C Copied from the Exome Variant Server GRM8_000149 1/13006 0/8600 1/4406 - - - - - - -
?/? c.222C>T r.(=) p.(=) g.126883037G>A Copied from the Exome Variant Server GRM8_000148 1/13006 0/8600 1/4406 - - - - - - -
?/? c.256A>T r.(?) p.(Ile86Phe) g.126883003T>A Copied from the Exome Variant Server GRM8_000147 1/13006 0/8600 1/4406 - - - - - - -
?/? c.264G>A r.(=) p.(=) g.126882995C>T Copied from the Exome Variant Server GRM8_000146 1/13006 1/8600 0/4406 - - - - - - -
?/? c.269C>T r.(?) p.(Pro90Leu) g.126882990G>A Copied from the Exome Variant Server GRM8_000145 1/13006 0/8600 1/4406 - - - - - - -
?/? c.310G>A r.(?) p.(Asp104Asn) g.126882949C>T Copied from the Exome Variant Server GRM8_000144 1/13006 1/8600 0/4406 - - - - - - -
?/? c.351A>C r.(=) p.(=) g.126882908T>G Copied from the Exome Variant Server GRM8_000143 2/13006 2/8600 0/4406 - - - - - - -
?/? c.353C>T r.(?) p.(Thr118Ile) g.126882906G>A Copied from the Exome Variant Server GRM8_000142 1/13006 0/8600 1/4406 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.126882902G>A Copied from the Exome Variant Server GRM8_000141 212/13006 10/8600 202/4406 - - - - - - -
?/? c.358G>A r.(?) p.(Val120Met) g.126882901C>T Copied from the Exome Variant Server GRM8_000140 2/13006 2/8600 0/4406 - - - - - - -
?/? c.386C>T r.(?) p.(Ser129Leu) g.126882873G>A Copied from the Exome Variant Server GRM8_000139 2/13006 1/8600 1/4406 - - - - - - -
?/? c.433G>A r.(?) p.(Asp145Asn) g.126882826C>T Copied from the Exome Variant Server GRM8_000138 1/13006 1/8600 0/4406 - - - - - - -
?/? c.446G>T r.(?) p.(Gly149Val) g.126882813C>A Copied from the Exome Variant Server GRM8_000137 1/13006 0/8600 1/4406 - - - - - - -
?/? c.471C>T r.(=) p.(=) g.126882788G>A Copied from the Exome Variant Server GRM8_000136 5/13006 0/8600 5/4406 - - - - - - -
?/? c.472G>A r.(?) p.(Val158Met) g.126882787C>T Copied from the Exome Variant Server GRM8_000135 2/13006 2/8600 0/4406 - - - - - - -
?/? c.478A>G r.(?) p.(Ile160Val) g.126882781T>C Copied from the Exome Variant Server GRM8_000134 1/13006 1/8600 0/4406 - - - - - - -
?/? c.511-42A>C r.(=) p.(=) g.126746808T>G Copied from the Exome Variant Server GRM8_000133 1/13006 1/8600 0/4406 - - - - - - -
?/? c.511-27T>A r.(=) p.(=) g.126746793A>T Copied from the Exome Variant Server GRM8_000132 1/13006 1/8600 0/4406 - - - - - - -
?/? c.511-16A>G r.(=) p.(=) g.126746782T>C Copied from the Exome Variant Server GRM8_000131 2/13006 0/8600 2/4406 - - - - - - -
?/? c.583G>A r.(?) p.(Val195Met) g.126746694C>T Copied from the Exome Variant Server GRM8_000130 1/13006 1/8600 0/4406 - - - - - - -
?/? c.585G>T r.(=) p.(=) g.126746692C>A Copied from the Exome Variant Server GRM8_000129 5/13006 0/8600 5/4406 - - - - - - -
?/? c.628G>A r.(?) p.(Val210Met) g.126746649C>T Copied from the Exome Variant Server GRM8_000128 1/13006 1/8600 0/4406 - - - - - - -
?/? c.690C>T r.(=) p.(=) g.126746587G>A Copied from the Exome Variant Server GRM8_000127 1/13006 1/8600 0/4406 - - - - - - -
?/? c.693T>C r.(=) p.(=) g.126746584A>G Copied from the Exome Variant Server GRM8_000126 190/13006 3/8600 187/4406 - - - - - - -
?/? c.727+38G>A r.(=) p.(=) g.126746512C>T Copied from the Exome Variant Server GRM8_000125 1/13006 1/8600 0/4406 - - - - - - -
?/? c.727+48273_727+48274insG r.(=) p.(=) g.126698276_126698277insC Copied from the Exome Variant Server GRM8_000124 1/11546 1/7528 0/4018 - - - - - - -
?/? c.727+48277G>A r.(=) p.(=) g.126698273C>T Copied from the Exome Variant Server GRM8_000123 9/10296 0/7162 9/3134 - - - - - - -
?/? c.727+48322T>C N/A N/A g.126698228A>G Copied from the Exome Variant Server GRM8_000122 1/10300 1/7164 0/3136 - - - - - - -
?/? c.727+48393C>T N/A N/A g.126698157G>A Copied from the Exome Variant Server GRM8_000121 1/10300 1/7164 0/3136 - - - - - - -
?/? c.727+48408C>T N/A N/A g.126698142G>A Copied from the Exome Variant Server GRM8_000120 1/10300 0/7164 1/3136 - - - - - - -
?/? c.728-50A>G r.(=) p.(=) g.126544787T>C Copied from the Exome Variant Server GRM8_000114 3/12998 2/8594 1/4404 - - - - - - -
?/? c.728-38C>T r.(=) p.(=) g.126544775G>A Copied from the Exome Variant Server GRM8_000112 1/12998 1/8596 0/4402 - - - - - - -
?/? c.759C>T r.(=) p.(=) g.126544706G>A Copied from the Exome Variant Server GRM8_000119 1/13006 0/8600 1/4406 - - - - - - -
?/? c.764G>A r.(?) p.(Arg255His) g.126544701C>T Copied from the Exome Variant Server GRM8_000118 1/13006 1/8600 0/4406 - - - - - - -
?/? c.768A>T r.(?) p.(Glu256Asp) g.126544697T>A Copied from the Exome Variant Server GRM8_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.794T>C r.(?) p.(Ile265Thr) g.126544671A>G Copied from the Exome Variant Server GRM8_000116 33/13006 0/8600 33/4406 - - - - - - -
?/? c.846C>T r.(=) p.(=) g.126544619G>A Copied from the Exome Variant Server GRM8_000115 1/13002 0/8596 1/4406 - - - - - - -
?/? c.853G>A r.(?) p.(Asp285Asn) g.126544612C>T Copied from the Exome Variant Server GRM8_000113 2/13006 0/8600 2/4406 - - - - - - -
?/? c.863+39G>C r.(=) p.(=) g.126544563C>G Copied from the Exome Variant Server GRM8_000111 1/13006 0/8600 1/4406 - - - - - - -
?/? c.864-38A>G r.(=) p.(=) g.126544218T>C Copied from the Exome Variant Server GRM8_000110 4/13000 4/8596 0/4404 - - - - - - -
?/? c.864-25G>A r.(=) p.(=) g.126544205C>T Copied from the Exome Variant Server GRM8_000109 1/13004 1/8598 0/4406 - - - - - - -
?/? c.864-13T>C r.(=) p.(=) g.126544193A>G Copied from the Exome Variant Server GRM8_000108 2/13004 0/8598 2/4406 - - - - - - -
?/? c.864-12T>G r.(=) p.(=) g.126544192A>C Copied from the Exome Variant Server GRM8_000107 1/13004 1/8598 0/4406 - - - - - - -
?/? c.877G>A r.(?) p.(Ala293Thr) g.126544167C>T Copied from the Exome Variant Server GRM8_000106 1/13006 1/8600 0/4406 - - - - - - -
?/? c.895C>A r.(?) p.(Gln299Lys) g.126544149G>T Copied from the Exome Variant Server GRM8_000105 1/13006 1/8600 0/4406 - - - - - - -
?/? c.899G>C r.(?) p.(Ser300Thr) g.126544145C>G Copied from the Exome Variant Server GRM8_000104 1/13006 0/8600 1/4406 - - - - - - -
?/? c.905A>G r.(?) p.(His302Arg) g.126544139T>C Copied from the Exome Variant Server GRM8_000103 19/13006 1/8600 18/4406 - - - - - - -
?/? c.924A>G r.(=) p.(=) g.126544120T>C Copied from the Exome Variant Server GRM8_000102 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1003C>T r.(?) p.(Arg335*) g.126544041G>A Copied from the Exome Variant Server GRM8_000101 1/12984 1/8582 0/4402 - - - - - - -
?/? c.1012A>G r.(?) p.(Ile338Val) g.126544032T>C Copied from the Exome Variant Server GRM8_000100 5/12984 0/8582 5/4402 - - - - - - -
?/? c.1013T>A r.(?) p.(Ile338Asn) g.126544031A>T Copied from the Exome Variant Server GRM8_000099 8/12984 0/8582 8/4402 - - - - - - -
?/? c.1019-11C>G r.(=) p.(=) g.126542744G>C Copied from the Exome Variant Server GRM8_000098 7/13000 0/8596 7/4404 - - - - - - -
?/? c.1041C>A r.(?) p.(Ser347Arg) g.126542711G>T Copied from the Exome Variant Server GRM8_000097 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1085T>A r.(?) p.(Phe362Tyr) g.126542667A>T Copied from the Exome Variant Server GRM8_000096 1203/13006 1068/8600 135/4406 - - - - - - -
?/? c.1155A>C r.(=) p.(=) g.126542597T>G Copied from the Exome Variant Server GRM8_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1156+26T>C r.(=) p.(=) g.126542570A>G Copied from the Exome Variant Server GRM8_000094 50/13006 0/8600 50/4406 - - - - - - -
?/? c.1156+47T>C r.(=) p.(=) g.126542549A>G Copied from the Exome Variant Server GRM8_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1157-52C>G r.(=) p.(=) g.126410171G>C Copied from the Exome Variant Server GRM8_000092 2584/7268 2155/4614 429/2654 - - - - - - -
?/? c.1157-39C>G r.(=) p.(=) g.126410158G>C Copied from the Exome Variant Server GRM8_000091 3/12988 3/8588 0/4400 - - - - - - -
?/? c.1157-24G>A r.(=) p.(=) g.126410143C>T Copied from the Exome Variant Server GRM8_000090 3/13004 2/8600 1/4404 - - - - - - -
?/? c.1157-16C>A r.(=) p.(=) g.126410135G>T Copied from the Exome Variant Server GRM8_000089 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1157-3C>A r.spl? p.? g.126410122G>T Copied from the Exome Variant Server GRM8_000088 770/13004 4/8600 766/4404 - - - - - - -
?/? c.1165C>T r.(?) p.(Arg389*) g.126410111G>A Copied from the Exome Variant Server GRM8_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1188T>C r.(=) p.(=) g.126410088A>G Copied from the Exome Variant Server GRM8_000086 8/13006 0/8600 8/4406 - - - - - - -
?/? c.1200A>G r.(=) p.(=) g.126410076T>C Copied from the Exome Variant Server GRM8_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1274C>A r.(?) p.(Pro425His) g.126410002G>T Copied from the Exome Variant Server GRM8_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1282A>G r.(?) p.(Ile428Val) g.126409994T>C Copied from the Exome Variant Server GRM8_000083 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1303A>G r.(?) p.(Ser435Gly) g.126409973T>C Copied from the Exome Variant Server GRM8_000082 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1343C>G r.(?) p.(Ala448Gly) g.126409933G>C Copied from the Exome Variant Server GRM8_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1357+12C>T r.(=) p.(=) g.126409907G>A Copied from the Exome Variant Server GRM8_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1357+27A>G r.(=) p.(=) g.126409892T>C Copied from the Exome Variant Server GRM8_000079 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1358-5T>C r.spl? p.? g.126249557A>G Copied from the Exome Variant Server GRM8_000068 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1358-4A>G r.spl? p.? g.126249556T>C Copied from the Exome Variant Server GRM8_000066 20/13006 20/8600 0/4406 - - - - - - -
?/? c.1386T>C r.(=) p.(=) g.126249524A>G Copied from the Exome Variant Server GRM8_000064 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1409G>A r.(?) p.(Arg470His) g.126249501C>T Copied from the Exome Variant Server GRM8_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1444_1445insA r.(?) p.(Ser482Lysfs*26) g.126249465_126249466insT Copied from the Exome Variant Server GRM8_000077 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1452G>A r.(=) p.(=) g.126249458C>T Copied from the Exome Variant Server GRM8_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1464C>T r.(=) p.(=) g.126249446G>A Copied from the Exome Variant Server GRM8_000075 30/13006 27/8600 3/4406 - - - - - - -
?/? c.1486C>A r.(?) p.(His496Asn) g.126249424G>T Copied from the Exome Variant Server GRM8_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1494+10G>A r.(=) p.(=) g.126249406C>T Copied from the Exome Variant Server GRM8_000073 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1494+13A>G r.(=) p.(=) g.126249403T>C Copied from the Exome Variant Server GRM8_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1494+21A>G r.(=) p.(=) g.126249395T>C Copied from the Exome Variant Server GRM8_000071 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1495-26G>A r.(=) p.(=) g.126173967C>T Copied from the Exome Variant Server GRM8_000070 5/12730 0/8504 5/4226 - - - - - - -
?/? c.1495-9T>C r.(=) p.(=) g.126173950A>G Copied from the Exome Variant Server GRM8_000069 116/12896 0/8570 116/4326 - - - - - - -
?/? c.1534C>G r.(?) p.(Pro512Ala) g.126173902G>C Copied from the Exome Variant Server GRM8_000067 277/13006 3/8600 274/4406 - - - - - - -
?/? c.1538C>T r.(?) p.(Ala513Val) g.126173898G>A Copied from the Exome Variant Server GRM8_000065 19/13006 0/8600 19/4406 - - - - - - -
?/? c.1539G>A r.(=) p.(=) g.126173897C>T Copied from the Exome Variant Server GRM8_000063 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1584G>A r.(=) p.(=) g.126173852C>T Copied from the Exome Variant Server GRM8_000062 3/13006 3/8600 0/4406 - - - - - - -
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