Unique variants in gene ARHGAP18

Information The variants shown are described using the NM_033515.2 transcript reference sequence.

142 entries on 2 pages. 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.-41C>A r.(=) p.(=) g.130031322G>T Copied from the Exome Variant Server ARHGAP18_000142 1/13006 1/8600 0/4406
1 c.-37G>T r.(=) p.(=) g.130031318C>A Copied from the Exome Variant Server ARHGAP18_000141 1/13006 1/8600 0/4406
1 c.-12C>T r.(=) p.(=) g.130031293G>A Copied from the Exome Variant Server ARHGAP18_000140 43/13006 0/8600 43/4406
1 c.16A>G r.(?) p.(Ser6Gly) g.130031266T>C Copied from the Exome Variant Server ARHGAP18_000139 2/13006 0/8600 2/4406
1 c.63C>T r.(=) p.(=) g.130031219G>A Copied from the Exome Variant Server ARHGAP18_000138 7/13006 7/8600 0/4406
1 c.67A>G r.(?) p.(Thr23Ala) g.130031215T>C Copied from the Exome Variant Server ARHGAP18_000137 10960/13006 7318/8600 3642/4406
1 c.71T>C r.(?) p.(Val24Ala) g.130031211A>G Copied from the Exome Variant Server ARHGAP18_000136 8/13006 0/8600 8/4406
1 c.91G>A r.(?) p.(Ala31Thr) g.130031191C>T Copied from the Exome Variant Server ARHGAP18_000135 1/13006 1/8600 0/4406
1 c.94G>A r.(?) p.(Gly32Arg) g.130031188C>T Copied from the Exome Variant Server ARHGAP18_000134 189/13006 0/8600 189/4406
1 c.111G>A r.(=) p.(=) g.130031171C>T Copied from the Exome Variant Server ARHGAP18_000133 1/13006 1/8600 0/4406
1 c.113+33C>A r.(=) p.(=) g.130031136G>T Copied from the Exome Variant Server ARHGAP18_000132 1/13006 0/8600 1/4406
1 c.113+38T>C r.(=) p.(=) g.130031131A>G Copied from the Exome Variant Server ARHGAP18_000131 1/13006 1/8600 0/4406
1 c.116G>A r.(?) p.(Arg39His) g.129963161C>T Copied from the Exome Variant Server ARHGAP18_000130 3/13006 2/8600 1/4406
1 c.117C>T r.(=) p.(=) g.129963160G>A Copied from the Exome Variant Server ARHGAP18_000129 3/13006 3/8600 0/4406
1 c.202G>T r.(?) p.(Asp68Tyr) g.129963075C>A Copied from the Exome Variant Server ARHGAP18_000128 1/13006 1/8600 0/4406
1 c.229G>A r.(?) p.(Asp77Asn) g.129963048C>T Copied from the Exome Variant Server ARHGAP18_000127 5/13006 5/8600 0/4406
1 c.290_291del r.(?) p.(Glu97Glyfs*8) g.129962986_129962987del Copied from the Exome Variant Server ARHGAP18_000126 11/12518 7/8254 4/4264
1 c.298G>A r.(?) p.(Val100Ile) g.129962979C>T Copied from the Exome Variant Server ARHGAP18_000125 1/13006 1/8600 0/4406
1 c.303C>T r.(=) p.(=) g.129962974G>A Copied from the Exome Variant Server ARHGAP18_000124 1/13006 0/8600 1/4406
1 c.304A>G r.(?) p.(Lys102Glu) g.129962973T>C Copied from the Exome Variant Server ARHGAP18_000123 1/13006 0/8600 1/4406
1 c.316+16A>C r.(=) p.(=) g.129962945T>G Copied from the Exome Variant Server ARHGAP18_000121 9/13006 9/8600 0/4406
1 c.316+30G>T r.(=) p.(=) g.129962931C>A Copied from the Exome Variant Server ARHGAP18_000119 1069/13006 455/8600 614/4406
1 c.349G>A r.(?) p.(Ala117Thr) g.129959742C>T Copied from the Exome Variant Server ARHGAP18_000117 1/13006 1/8600 0/4406
1 c.369C>T r.(=) p.(=) g.129959722G>A Copied from the Exome Variant Server ARHGAP18_000115 2/13006 2/8600 0/4406
1 c.370G>A r.(?) p.(Gly124Arg) g.129959721C>T Copied from the Exome Variant Server ARHGAP18_000122 7/13006 7/8600 0/4406
1 c.385G>C r.(?) p.(Asp129His) g.129959706C>G Copied from the Exome Variant Server ARHGAP18_000120 1/13006 1/8600 0/4406
1 c.392A>G r.(?) p.(Gln131Arg) g.129959699T>C Copied from the Exome Variant Server ARHGAP18_000118 1/13006 1/8600 0/4406
1 c.411_412insA r.(?) p.(Ser138Ilefs*33) g.129959679_129959680insT Copied from the Exome Variant Server ARHGAP18_000116 1/12518 0/8254 1/4264
1 c.424C>T r.(?) p.(Arg142Trp) g.129959667G>A Copied from the Exome Variant Server ARHGAP18_000114 1/13006 0/8600 1/4406
1 c.461C>T r.(?) p.(Thr154Met) g.129959630G>A Copied from the Exome Variant Server ARHGAP18_000113 1/13006 0/8600 1/4406
1 c.462G>A r.(=) p.(=) g.129959629C>T Copied from the Exome Variant Server ARHGAP18_000112 79/13006 71/8600 8/4406
1 c.511G>A r.(?) p.(Val171Ile) g.129959580C>T Copied from the Exome Variant Server ARHGAP18_000111 1/13006 1/8600 0/4406
1 c.518A>G r.(?) p.(Asp173Gly) g.129959573T>C Copied from the Exome Variant Server ARHGAP18_000110 1/13006 1/8600 0/4406
1 c.528T>C r.(=) p.(=) g.129959563A>G Copied from the Exome Variant Server ARHGAP18_000109 1/13006 1/8600 0/4406
1 c.552+26G>A r.(=) p.(=) g.129959513C>T Copied from the Exome Variant Server ARHGAP18_000108 1/13006 0/8600 1/4406
1 c.553-61C>G r.(=) p.(=) g.129955311G>C Copied from the Exome Variant Server ARHGAP18_000107 1/4566 0/3182 1/1384
1 c.559G>C r.(?) p.(Gly187Arg) g.129955244C>G Copied from the Exome Variant Server ARHGAP18_000106 3/13006 0/8600 3/4406
1 c.564C>T r.(=) p.(=) g.129955239G>A Copied from the Exome Variant Server ARHGAP18_000105 9/13006 8/8600 1/4406
1 c.572C>T r.(?) p.(Ser191Leu) g.129955231G>A Copied from the Exome Variant Server ARHGAP18_000104 1/13006 0/8600 1/4406
1 c.604C>G r.(?) p.(Gln202Glu) g.129955199G>C Copied from the Exome Variant Server ARHGAP18_000103 2/13006 0/8600 2/4406
1 c.610A>C r.(=) p.(=) g.129955193T>G Copied from the Exome Variant Server ARHGAP18_000102 16/13006 1/8600 15/4406
1 c.616+16T>C r.(=) p.(=) g.129955171A>G Copied from the Exome Variant Server ARHGAP18_000101 948/13006 781/8600 167/4406
1 c.616+34_616+35insTT r.(=) p.(=) g.129955152_129955153insAA Copied from the Exome Variant Server ARHGAP18_000100 345/12518 259/8254 86/4264
1 c.616+35del r.(=) p.(=) g.129955152del Copied from the Exome Variant Server ARHGAP18_000099 975/12518 590/8254 385/4264
1 c.616+35dup r.(=) p.(=) g.129955152dup Copied from the Exome Variant Server ARHGAP18_000098 4431/12518 3045/8254 1386/4264
1 c.616+38G>A r.(=) p.(=) g.129955149C>T Copied from the Exome Variant Server ARHGAP18_000097 1/13006 1/8600 0/4406
1 c.617-11C>T r.(=) p.(=) g.129950678G>A Copied from the Exome Variant Server ARHGAP18_000096 1/13006 0/8600 1/4406
1 c.617-2A>G r.spl? p.? g.129950669T>C Copied from the Exome Variant Server ARHGAP18_000095 1/13006 1/8600 0/4406
1 c.669G>A r.(=) p.(=) g.129950615C>T Copied from the Exome Variant Server ARHGAP18_000094 1/13006 0/8600 1/4406
1 c.670C>A r.(?) p.(Pro224Thr) g.129950614G>T Copied from the Exome Variant Server ARHGAP18_000093 1/13006 1/8600 0/4406
1 c.675C>T r.(=) p.(=) g.129950609G>A Copied from the Exome Variant Server ARHGAP18_000092 1/13006 0/8600 1/4406
1 c.711C>T r.(=) p.(=) g.129950573G>A Copied from the Exome Variant Server ARHGAP18_000091 1/13006 1/8600 0/4406
1 c.729G>T r.(?) p.(Gln243His) g.129950555C>A Copied from the Exome Variant Server ARHGAP18_000090 1/13006 1/8600 0/4406
1 c.743A>G r.(?) p.(Lys248Arg) g.129950541T>C Copied from the Exome Variant Server ARHGAP18_000089 126/13006 1/8600 125/4406
1 c.753C>A r.(=) p.(=) g.129950531G>T Copied from the Exome Variant Server ARHGAP18_000088 1/13006 0/8600 1/4406
1 c.769G>A r.(?) p.(Asp257Asn) g.129950515C>T Copied from the Exome Variant Server ARHGAP18_000087 1/13006 1/8600 0/4406
1 c.786+1G>T r.spl? p.? g.129950497C>A Copied from the Exome Variant Server ARHGAP18_000086 1/13006 1/8600 0/4406
1 c.786+4C>T r.spl? p.? g.129950494G>A Copied from the Exome Variant Server ARHGAP18_000085 2/13006 1/8600 1/4406
1 c.786+11C>A r.(=) p.(=) g.129950487G>T Copied from the Exome Variant Server ARHGAP18_000084 2/13006 0/8600 2/4406
1 c.787-45G>C r.(=) p.(=) g.129940042C>G Copied from the Exome Variant Server ARHGAP18_000083 1/12984 1/8588 0/4396
1 c.801A>G r.(=) p.(=) g.129939983T>C Copied from the Exome Variant Server ARHGAP18_000082 1/13000 1/8596 0/4404
1 c.812C>T r.(?) p.(Thr271Met) g.129939972G>A Copied from the Exome Variant Server ARHGAP18_000081 3/13004 1/8598 2/4406
1 c.837C>T r.(=) p.(=) g.129939947G>A Copied from the Exome Variant Server ARHGAP18_000080 1/13002 1/8598 0/4404
1 c.896A>G r.(?) p.(Tyr299Cys) g.129939888T>C Copied from the Exome Variant Server ARHGAP18_000079 1/12996 0/8594 1/4402
1 c.908G>A r.(?) p.(Gly303Asp) g.129939876C>T Copied from the Exome Variant Server ARHGAP18_000078 1/12996 0/8592 1/4404
1 c.953-8T>C r.(=) p.(=) g.129937456A>G Copied from the Exome Variant Server ARHGAP18_000077 999/13006 907/8600 92/4406
1 c.970G>A r.(?) p.(Val324Ile) g.129937431C>T Copied from the Exome Variant Server ARHGAP18_000076 4/13006 4/8600 0/4406
1 c.975A>G r.(=) p.(=) g.129937426T>C Copied from the Exome Variant Server ARHGAP18_000075 1/13006 0/8600 1/4406
1 c.985C>G r.(?) p.(Leu329Val) g.129937416G>C Copied from the Exome Variant Server ARHGAP18_000073 1/13006 0/8600 1/4406
1 c.1044+21C>T r.(=) p.(=) g.129937336G>A Copied from the Exome Variant Server ARHGAP18_000071 1/13006 1/8600 0/4406
1 c.1045-33C>T r.(=) p.(=) g.129932788G>A Copied from the Exome Variant Server ARHGAP18_000069 238/13006 5/8600 233/4406
1 c.1055G>A r.(?) p.(Arg352Gln) g.129932745C>T Copied from the Exome Variant Server ARHGAP18_000067 10/13006 0/8600 10/4406
1 c.1092A>G r.(=) p.(=) g.129932708T>C Copied from the Exome Variant Server ARHGAP18_000065 21/13006 0/8600 21/4406
1 c.1099C>T r.(?) p.(Pro367Ser) g.129932701G>A Copied from the Exome Variant Server ARHGAP18_000063 1/13006 1/8600 0/4406
1 c.1100C>A r.(?) p.(Pro367His) g.129932700G>T Copied from the Exome Variant Server ARHGAP18_000074 1/13006 1/8600 0/4406
1 c.1122+30T>G r.(=) p.(=) g.129932648A>C Copied from the Exome Variant Server ARHGAP18_000072 1373/13006 1254/8600 119/4406
1 c.1122+39T>C r.(=) p.(=) g.129932639A>G Copied from the Exome Variant Server ARHGAP18_000070 1/13006 0/8600 1/4406
1 c.1122+52T>G r.(=) p.(=) g.129932626A>C Copied from the Exome Variant Server ARHGAP18_000068 1/10300 0/7164 1/3136
1 c.1123-53del r.(=) p.(=) g.129929250del Copied from the Exome Variant Server ARHGAP18_000066 99/12398 71/8204 28/4194
1 c.1123-43A>T r.(=) p.(=) g.129929240T>A Copied from the Exome Variant Server ARHGAP18_000064 1/12970 1/8578 0/4392
1 c.1123-11G>A r.(=) p.(=) g.129929208C>T Copied from the Exome Variant Server ARHGAP18_000062 3/13006 3/8600 0/4406
1 c.1123-8C>T r.(=) p.(=) g.129929205G>A Copied from the Exome Variant Server ARHGAP18_000061 1/13006 1/8600 0/4406
1 c.1123-4T>G r.spl? p.? g.129929201A>C Copied from the Exome Variant Server ARHGAP18_000060 3/13006 0/8600 3/4406
1 c.1140A>G r.(=) p.(=) g.129929180T>C Copied from the Exome Variant Server ARHGAP18_000059 31/13006 0/8600 31/4406
1 c.1162A>G r.(?) p.(Thr388Ala) g.129929158T>C Copied from the Exome Variant Server ARHGAP18_000058 1/13006 1/8600 0/4406
1 c.1165_1166insCTT r.(?) p.(Thr388_Phe389insSer) g.129929154_129929155insAAG Copied from the Exome Variant Server ARHGAP18_000057 1/12518 0/8254 1/4264
1 c.1192G>A r.(?) p.(Asp398Asn) g.129929128C>T Copied from the Exome Variant Server ARHGAP18_000056 1/13006 1/8600 0/4406
1 c.1218C>T r.(=) p.(=) g.129929102G>A Copied from the Exome Variant Server ARHGAP18_000055 1/13006 1/8600 0/4406
1 c.1223G>A r.(?) p.(Arg408Gln) g.129929097C>T Copied from the Exome Variant Server ARHGAP18_000054 1/13006 1/8600 0/4406
1 c.1282+35C>T r.(=) p.(=) g.129929003G>A Copied from the Exome Variant Server ARHGAP18_000053 6/13006 0/8600 6/4406
1 c.1283-61_1283-57del r.(=) p.(=) g.129927161_129927165del Copied from the Exome Variant Server ARHGAP18_000052 6/12512 5/8248 1/4264
1 c.1283-55_1283-51del r.(=) p.(=) g.129927155_129927159del Copied from the Exome Variant Server ARHGAP18_000051 6/12512 5/8248 1/4264
1 c.1302G>A r.(=) p.(=) g.129927085C>T Copied from the Exome Variant Server ARHGAP18_000050 5/13006 0/8600 5/4406
1 c.1320C>T r.(=) p.(=) g.129927067G>A Copied from the Exome Variant Server ARHGAP18_000049 1/13006 0/8600 1/4406
1 c.1365+8T>C r.(=) p.(=) g.129927014A>G Copied from the Exome Variant Server ARHGAP18_000048 6464/13006 3459/8600 3005/4406
1 c.1366-31C>T r.(=) p.(=) g.129922024G>A Copied from the Exome Variant Server ARHGAP18_000047 1/12900 1/8564 0/4336
1 c.1390G>A r.(?) p.(Val464Ile) g.129921969C>T Copied from the Exome Variant Server ARHGAP18_000046 1/13006 0/8600 1/4406
1 c.1438A>G r.(?) p.(Met480Val) g.129921921T>C Copied from the Exome Variant Server ARHGAP18_000045 1/13006 1/8600 0/4406
1 c.1487C>A r.(?) p.(Ser496Tyr) g.129921872G>T Copied from the Exome Variant Server ARHGAP18_000044 3/13006 2/8600 1/4406
1 c.1489A>G r.(?) p.(Ser497Gly) g.129921870T>C Copied from the Exome Variant Server ARHGAP18_000043 1/13006 1/8600 0/4406
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