Unique variants in gene IFIH1

Information The variants shown are described using the NM_022168.3 transcript reference sequence.

201 entries on 3 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.25G>A r.(?) p.(Glu9Lys) g.163174793C>T Copied from the Exome Variant Server IFIH1_000201 1/13006 1/8600 0/4406
1 c.47C>T r.(?) p.(Ser16Leu) g.163174771G>A Copied from the Exome Variant Server IFIH1_000199 1/13006 0/8600 1/4406
1 c.62G>T r.(?) p.(Arg21Met) g.163174756C>A Copied from the Exome Variant Server IFIH1_000197 1/13006 1/8600 0/4406
1 c.97G>T r.(?) p.(Asp33Tyr) g.163174721C>A Copied from the Exome Variant Server IFIH1_000195 1/13006 1/8600 0/4406
1 c.177T>C r.(=) p.(=) g.163174641A>G Copied from the Exome Variant Server IFIH1_000193 109/13006 0/8600 109/4406
1 c.229C>T r.(?) p.(Arg77Trp) g.163174589G>A Copied from the Exome Variant Server IFIH1_000191 5/13006 5/8600 0/4406
1 c.230G>A r.(?) p.(Arg77Gln) g.163174588C>T Copied from the Exome Variant Server IFIH1_000189 1/13006 1/8600 0/4406
1 c.240G>A r.(=) p.(=) g.163174578C>T Copied from the Exome Variant Server IFIH1_000187 1/13006 1/8600 0/4406
1 c.258C>G r.(=) p.(=) g.163174560G>C Copied from the Exome Variant Server IFIH1_000185 64/13006 0/8600 64/4406
1 c.278G>A r.(?) p.(Arg93His) g.163174540C>T Copied from the Exome Variant Server IFIH1_000183 1/13006 1/8600 0/4406
1 c.292G>C r.(?) p.(Glu98Gln) g.163174526C>G Copied from the Exome Variant Server IFIH1_000181 1/13006 0/8600 1/4406
1 c.298A>G r.(?) p.(Thr100Ala) g.163174520T>C Copied from the Exome Variant Server IFIH1_000200 1/13006 1/8600 0/4406
1 c.313C>G r.(?) p.(Pro105Ala) g.163174505G>C Copied from the Exome Variant Server IFIH1_000198 1/13006 1/8600 0/4406
1 c.314C>A r.(?) p.(Pro105Gln) g.163174504G>T Copied from the Exome Variant Server IFIH1_000196 1/13006 1/8600 0/4406
1 c.340T>A r.(?) p.(Tyr114Asn) g.163174478A>T Copied from the Exome Variant Server IFIH1_000194 1/13006 1/8600 0/4406
1 c.373C>A r.(?) p.(Leu125Met) g.163174445G>T Copied from the Exome Variant Server IFIH1_000192 2/13006 2/8600 0/4406
1 c.376G>A r.(?) p.(Val126Met) g.163174442C>T Copied from the Exome Variant Server IFIH1_000190 1/13006 1/8600 0/4406
1 c.384G>C r.(?) p.(Lys128Asn) g.163174434C>G Copied from the Exome Variant Server IFIH1_000188 2/13006 0/8600 2/4406
1 c.420G>A r.(=) p.(=) g.163174398C>T Copied from the Exome Variant Server IFIH1_000186 3/13006 3/8600 0/4406
1 c.427C>T r.(=) p.(=) g.163174391G>A Copied from the Exome Variant Server IFIH1_000184 38/13006 0/8600 38/4406
1 c.436A>G r.(?) p.(Ile146Val) g.163174382T>C Copied from the Exome Variant Server IFIH1_000182 17/13006 0/8600 17/4406
1 c.445A>G r.(?) p.(Arg149Gly) g.163174373T>C Copied from the Exome Variant Server IFIH1_000180 4/13006 2/8600 2/4406
1 c.453+17A>G r.(=) p.(=) g.163174348T>C Copied from the Exome Variant Server IFIH1_000179 3/13006 3/8600 0/4406
1 c.453+37A>C r.(=) p.(=) g.163174328T>G Copied from the Exome Variant Server IFIH1_000178 27/13006 20/8600 7/4406
1 c.453+38G>T r.(=) p.(=) g.163174327C>A Copied from the Exome Variant Server IFIH1_000177 26/13006 19/8600 7/4406
1 c.454-40A>T r.(=) p.(=) g.163167483T>A Copied from the Exome Variant Server IFIH1_000176 1/12988 1/8588 0/4400
1 c.454-25T>G r.(=) p.(=) g.163167468A>C Copied from the Exome Variant Server IFIH1_000175 5/12996 5/8590 0/4406
1 c.454-1G>T r.spl? p.? g.163167444C>A Copied from the Exome Variant Server IFIH1_000173 1/12998 1/8592 0/4406
1 c.460G>C r.(?) p.(Ala154Pro) g.163167437C>G Copied from the Exome Variant Server IFIH1_000171 1/12998 1/8592 0/4406
1 c.461C>T r.(?) p.(Ala154Val) g.163167436G>A Copied from the Exome Variant Server IFIH1_000169 1/12998 1/8592 0/4406
1 c.467A>C r.(?) p.(Glu156Ala) g.163167430T>G Copied from the Exome Variant Server IFIH1_000167 2/13000 0/8594 2/4406
1 c.478A>G r.(?) p.(Asn160Asp) g.163167419T>C Copied from the Exome Variant Server IFIH1_000165 8/13002 8/8596 0/4406
1 c.527A>G r.(?) p.(Asn176Ser) g.163167370T>C Copied from the Exome Variant Server IFIH1_000164 1/13000 1/8598 0/4402
1 c.622+46G>A r.(=) p.(=) g.163167229C>T Copied from the Exome Variant Server IFIH1_000162 1/13002 0/8598 1/4404
1 c.623-19C>G r.(=) p.(=) g.163163384G>C Copied from the Exome Variant Server IFIH1_000160 9/13006 0/8600 9/4406
1 c.660G>C r.(=) p.(=) g.163163328C>G Copied from the Exome Variant Server IFIH1_000158 1/13006 1/8600 0/4406
1 c.698T>C r.(?) p.(Leu233Pro) g.163163290A>G Copied from the Exome Variant Server IFIH1_000174 1/13006 1/8600 0/4406
1 c.736G>T r.(?) p.(Glu246*) g.163163252C>A Copied from the Exome Variant Server IFIH1_000172 1/13006 1/8600 0/4406
1 c.755C>A r.(?) p.(Ser252Tyr) g.163163233G>T Copied from the Exome Variant Server IFIH1_000170 1/13006 0/8600 1/4406
1 c.766T>G r.(?) p.(Ser256Ala) g.163163222A>C Copied from the Exome Variant Server IFIH1_000168 1/13006 0/8600 1/4406
1 c.769+11C>A r.(=) p.(=) g.163163208G>T Copied from the Exome Variant Server IFIH1_000166 1/13006 0/8600 1/4406
1 c.769+28A>T r.(=) p.(=) g.163163191T>A Copied from the Exome Variant Server IFIH1_000163 21/13004 21/8598 0/4406
1 c.769+37A>G r.(=) p.(=) g.163163182T>C Copied from the Exome Variant Server IFIH1_000161 1/13004 1/8598 0/4406
1 c.770-42C>A r.(=) p.(=) g.163150220G>T Copied from the Exome Variant Server IFIH1_000159 1/12982 1/8594 0/4388
1 c.874+25C>G r.(=) p.(=) g.163150049G>C Copied from the Exome Variant Server IFIH1_000157 5/13006 5/8600 0/4406
1 c.874+37G>T r.(=) p.(=) g.163150037C>A Copied from the Exome Variant Server IFIH1_000156 2/13004 0/8598 2/4406
1 c.874+46C>T r.(=) p.(=) g.163150028G>A Copied from the Exome Variant Server IFIH1_000155 15/13004 1/8598 14/4406
1 c.875-40T>C r.(=) p.(=) g.163144905A>G Copied from the Exome Variant Server IFIH1_000154 1/13002 0/8598 1/4404
1 c.875-34C>T r.(=) p.(=) g.163144899G>A Copied from the Exome Variant Server IFIH1_000153 98/13004 87/8600 11/4404
1 c.891A>C r.(=) p.(=) g.163144849T>G Copied from the Exome Variant Server IFIH1_000152 1/13006 0/8600 1/4406
1 c.936A>G r.(=) p.(=) g.163144804T>C Copied from the Exome Variant Server IFIH1_000151 1/13006 1/8600 0/4406
1 c.937del r.(?) p.(Met313Trpfs*35) g.163144803del Copied from the Exome Variant Server IFIH1_000150 1/12516 1/8250 0/4266
1 c.949C>T r.(?) p.(Gln317*) g.163144791G>A Copied from the Exome Variant Server IFIH1_000149 2/13006 2/8600 0/4406
1 c.988C>T r.(?) p.(Pro330Ser) g.163144752G>A Copied from the Exome Variant Server IFIH1_000148 2/13006 2/8600 0/4406
1 c.1046A>G r.(?) p.(Lys349Arg) g.163144694T>C Copied from the Exome Variant Server IFIH1_000147 18/13006 17/8600 1/4406
1 c.1046del r.(?) p.(Lys349Argfs*12) g.163144694del Copied from the Exome Variant Server IFIH1_000146 1/12520 0/8254 1/4266
1 c.1066C>A r.(?) p.(Pro356Thr) g.163144674G>T Copied from the Exome Variant Server IFIH1_000145 11/13006 10/8600 1/4406
1 c.1095+1G>A r.spl? p.? g.163144644C>T Copied from the Exome Variant Server IFIH1_000143 1/13006 1/8600 0/4406
1 c.1095+33T>C r.(=) p.(=) g.163144612A>G Copied from the Exome Variant Server IFIH1_000141 45/13004 0/8600 45/4404
1 c.1095+43A>G r.(=) p.(=) g.163144602T>C Copied from the Exome Variant Server IFIH1_000139 1/12994 1/8592 0/4402
1 c.1096-49G>A r.(=) p.(=) g.163139135C>T Copied from the Exome Variant Server IFIH1_000137 6/12762 6/8504 0/4258
1 c.1096-43G>A r.(=) p.(=) g.163139129C>T Copied from the Exome Variant Server IFIH1_000144 2/12808 1/8532 1/4276
1 c.1096-17C>G r.(=) p.(=) g.163139103G>C Copied from the Exome Variant Server IFIH1_000142 1/12948 0/8578 1/4370
1 c.1096-13A>G r.(=) p.(=) g.163139099T>C Copied from the Exome Variant Server IFIH1_000140 4/12960 4/8580 0/4380
1 c.1097T>A r.(?) p.(Val366Glu) g.163139085A>T Copied from the Exome Variant Server IFIH1_000138 12/12996 0/8598 12/4398
1 c.1121G>A r.(?) p.(Arg374His) g.163139061C>T Copied from the Exome Variant Server IFIH1_000136 6/13000 6/8596 0/4404
1 c.1222G>A r.(?) p.(Asp408Asn) g.163138960C>T Copied from the Exome Variant Server IFIH1_000135 3/13004 3/8598 0/4406
1 c.1275A>G r.(=) p.(=) g.163138907T>C Copied from the Exome Variant Server IFIH1_000134 1/13002 1/8598 0/4404
1 c.1306+17del r.(=) p.(=) g.163138859del Copied from the Exome Variant Server IFIH1_000133 8/12350 5/8196 3/4154
1 c.1306+24_1306+25insT r.(=) p.(=) g.163138851_163138852insA Copied from the Exome Variant Server IFIH1_000132 802/12126 108/8148 694/3978
1 c.1306+25dup r.(=) p.(=) g.163138851dup Copied from the Exome Variant Server IFIH1_000131 562/12126 3/8148 559/3978
1 c.1306+31_1306+32insA r.(=) p.(=) g.163138844_163138845insT Copied from the Exome Variant Server IFIH1_000130 721/12012 10/8112 711/3900
1 c.1307-22A>G r.(=) p.(=) g.163138077T>C Copied from the Exome Variant Server IFIH1_000129 1/12990 1/8592 0/4398
1 c.1357G>C r.(?) p.(Val453Leu) g.163138005C>G Copied from the Exome Variant Server IFIH1_000128 2/13004 2/8598 0/4406
1 c.1379A>G r.(?) p.(His460Arg) g.163137983T>C Copied from the Exome Variant Server IFIH1_000127 1950/13004 122/8598 1828/4406
1 c.1407T>C r.(=) p.(=) g.163137955A>G Copied from the Exome Variant Server IFIH1_000126 2/13006 2/8600 0/4406
1 c.1457G>C r.(?) p.(Gly486Ala) g.163137905C>G Copied from the Exome Variant Server IFIH1_000125 2/13006 0/8600 2/4406
1 c.1481G>T r.(?) p.(Gly494Val) g.163137881C>A Copied from the Exome Variant Server IFIH1_000124 36/13006 0/8600 36/4406
1 c.1491G>C r.(=) p.(=) g.163137871C>G Copied from the Exome Variant Server IFIH1_000123 1509/13006 126/8600 1383/4406
1 c.1515C>T r.(=) p.(=) g.163137847G>A Copied from the Exome Variant Server IFIH1_000122 1/13006 1/8600 0/4406
1 c.1524+19T>C r.(=) p.(=) g.163137819A>G Copied from the Exome Variant Server IFIH1_000121 2/13004 2/8598 0/4406
1 c.1524+24C>G r.(=) p.(=) g.163137814G>C Copied from the Exome Variant Server IFIH1_000120 1/13004 1/8598 0/4406
1 c.1525-10T>C r.(=) p.(=) g.163136632A>G Copied from the Exome Variant Server IFIH1_000119 1/13002 1/8598 0/4404
1 c.1535A>T r.(?) p.(Asn512Ile) g.163136612T>A Copied from the Exome Variant Server IFIH1_000118 1/13004 1/8600 0/4404
1 c.1558A>G r.(?) p.(Thr520Ala) g.163136589T>C Copied from the Exome Variant Server IFIH1_000117 2/13004 2/8600 0/4404
1 c.1583T>G r.(?) p.(Leu528Arg) g.163136564A>C Copied from the Exome Variant Server IFIH1_000116 13/13006 13/8600 0/4406
1 c.1605A>G r.(=) p.(=) g.163136542T>C Copied from the Exome Variant Server IFIH1_000115 1/13006 0/8600 1/4406
1 c.1609A>G r.(?) p.(Lys537Glu) g.163136538T>C Copied from the Exome Variant Server IFIH1_000114 1/13006 1/8600 0/4406
1 c.1641+1G>C r.spl? p.? g.163136505C>G Copied from the Exome Variant Server IFIH1_000113 106/13006 93/8600 13/4406
1 c.1642-23A>G r.(=) p.(=) g.163134861T>C Copied from the Exome Variant Server IFIH1_000112 2/12986 2/8582 0/4404
1 c.1644T>C r.(=) p.(=) g.163134836A>G Copied from the Exome Variant Server IFIH1_000111 1/12996 1/8592 0/4404
1 c.1692T>C r.(=) p.(=) g.163134788A>G Copied from the Exome Variant Server IFIH1_000110 2/13000 0/8596 2/4404
1 c.1723A>G r.(?) p.(Thr575Ala) g.163134757T>C Copied from the Exome Variant Server IFIH1_000109 28/13002 0/8598 28/4404
1 c.1744G>T r.(?) p.(Ala582Ser) g.163134736C>A Copied from the Exome Variant Server IFIH1_000108 1/13002 1/8598 0/4404
1 c.1764_1765insA r.(?) p.(Ala589Serfs*21) g.163134715_163134716insT Copied from the Exome Variant Server IFIH1_000107 30/12516 5/8252 25/4264
1 c.1765G>A r.(?) p.(Ala589Thr) g.163134715C>T Copied from the Exome Variant Server IFIH1_000106 1/13004 0/8598 1/4406
1 c.1765+9G>A r.(=) p.(=) g.163134706C>T Copied from the Exome Variant Server IFIH1_000105 1/13004 1/8598 0/4406
1 c.1765+33T>A r.(=) p.(=) g.163134682A>T Copied from the Exome Variant Server IFIH1_000104 139/13004 113/8598 26/4406
1 c.1765+39G>A r.(=) p.(=) g.163134676C>T Copied from the Exome Variant Server IFIH1_000103 2/13002 0/8596 2/4406
1 c.1765+46C>T r.(=) p.(=) g.163134669G>A Copied from the Exome Variant Server IFIH1_000102 1/13002 1/8596 0/4406
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