All transcript variants in gene IRS1

Information The variants shown are described using the NM_005544.2 transcript reference sequence.

152 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     
?/? c.4G>A r.(?) p.(Ala2Thr) g.227663451C>T Copied from the Exome Variant Server IRS1_000144 1/12938 0/8564 1/4374
?/? c.33G>A r.(=) p.(=) g.227663422C>T Copied from the Exome Variant Server IRS1_000142 1/13004 1/8598 0/4406
?/? c.100G>A r.(?) p.(Ala34Thr) g.227663355C>T Copied from the Exome Variant Server IRS1_000152 1/13004 0/8598 1/4406
?/? c.132C>T r.(=) p.(=) g.227663323G>A Copied from the Exome Variant Server IRS1_000151 67/13006 3/8600 64/4406
?/? c.193C>A r.(?) p.(Pro65Thr) g.227663262G>T Copied from the Exome Variant Server IRS1_000150 8/13006 0/8600 8/4406
?/? c.225G>A r.(=) p.(=) g.227663230C>T Copied from the Exome Variant Server IRS1_000149 1/13006 1/8600 0/4406
?/? c.270C>T r.(=) p.(=) g.227663185G>A Copied from the Exome Variant Server IRS1_000148 738/13006 87/8600 651/4406
?/? c.304G>A r.(?) p.(Glu102Lys) g.227663151C>T Copied from the Exome Variant Server IRS1_000147 1/13006 1/8600 0/4406
?/? c.306G>C r.(?) p.(Glu102Asp) g.227663149C>G Copied from the Exome Variant Server IRS1_000146 4/13006 0/8600 4/4406
?/? c.347G>A r.(?) p.(Arg116His) g.227663108C>T Copied from the Exome Variant Server IRS1_000145 2/13006 1/8600 1/4406
?/? c.356G>C r.(?) p.(Gly119Ala) g.227663099C>G Copied from the Exome Variant Server IRS1_000143 1/13006 1/8600 0/4406
?/? c.368G>A r.(?) p.(Gly123Glu) g.227663087C>T Copied from the Exome Variant Server IRS1_000141 3/13004 3/8600 0/4404
?/? c.412G>A r.(?) p.(Gly138Ser) g.227663043C>T Copied from the Exome Variant Server IRS1_000140 2/13002 0/8596 2/4406
?/? c.433G>T r.(?) p.(Ala145Ser) g.227663022C>A Copied from the Exome Variant Server IRS1_000139 1/13006 0/8600 1/4406
?/? c.453C>A r.(?) p.(Tyr151*) g.227663002G>T Copied from the Exome Variant Server IRS1_000138 1/13006 1/8600 0/4406
?/? c.482A>G r.(?) p.(Lys161Arg) g.227662973T>C Copied from the Exome Variant Server IRS1_000137 1/13006 1/8600 0/4406
?/? c.552C>T r.(=) p.(=) g.227662903G>A Copied from the Exome Variant Server IRS1_000136 2/13006 0/8600 2/4406
?/? c.699C>A r.(=) p.(=) g.227662756G>T Copied from the Exome Variant Server IRS1_000135 1/13006 0/8600 1/4406
?/? c.702G>A r.(=) p.(=) g.227662753C>T Copied from the Exome Variant Server IRS1_000134 832/13006 576/8600 256/4406
?/? c.746T>C r.(?) p.(Met249Thr) g.227662709A>G Copied from the Exome Variant Server IRS1_000133 1/13006 0/8600 1/4406
?/? c.750C>T r.(=) p.(=) g.227662705G>A Copied from the Exome Variant Server IRS1_000132 1/13006 0/8600 1/4406
?/? c.784G>C r.(?) p.(Asp262His) g.227662671C>G Copied from the Exome Variant Server IRS1_000131 1/13006 0/8600 1/4406
?/? c.819G>C r.(=) p.(=) g.227662636C>G Copied from the Exome Variant Server IRS1_000130 1/13006 0/8600 1/4406
?/? c.838A>G r.(?) p.(Ile280Val) g.227662617T>C Copied from the Exome Variant Server IRS1_000129 1/13006 1/8600 0/4406
?/? c.931_933del r.(?) p.(Thr311del) g.227662522_227662524del Copied from the Exome Variant Server IRS1_000128 38/12464 0/8220 38/4244
?/? c.1002C>T r.(=) p.(=) g.227662453G>A Copied from the Exome Variant Server IRS1_000127 1/12988 1/8590 0/4398
?/? c.1020C>T r.(=) p.(=) g.227662435G>A Copied from the Exome Variant Server IRS1_000126 6/12964 4/8570 2/4394
?/? c.1027G>A r.(?) p.(Asp343Asn) g.227662428C>T Copied from the Exome Variant Server IRS1_000125 2/12964 2/8568 0/4396
?/? c.1065C>T r.(=) p.(=) g.227662390G>A Copied from the Exome Variant Server IRS1_000124 1/12938 0/8544 1/4394
?/? c.1117C>T r.(?) p.(Arg373Cys) g.227662338G>A Copied from the Exome Variant Server IRS1_000123 3/12966 2/8576 1/4390
?/? c.1143C>T r.(=) p.(=) g.227662312G>A Copied from the Exome Variant Server IRS1_000122 6/12976 3/8584 3/4392
?/? c.1248G>A r.(=) p.(=) g.227662207C>T Copied from the Exome Variant Server IRS1_000121 1/13006 1/8600 0/4406
?/? c.1266T>C r.(=) p.(=) g.227662189A>G Copied from the Exome Variant Server IRS1_000120 4/13006 4/8600 0/4406
?/? c.1268G>T r.(?) p.(Gly423Val) g.227662187C>A Copied from the Exome Variant Server IRS1_000119 1/13006 1/8600 0/4406
?/? c.1269C>T r.(=) p.(=) g.227662186G>A Copied from the Exome Variant Server IRS1_000118 2/13006 2/8600 0/4406
?/? c.1284G>A r.(=) p.(=) g.227662171C>T Copied from the Exome Variant Server IRS1_000117 2/13006 2/8600 0/4406
?/? c.1298C>G r.(?) p.(Ser433Cys) g.227662157G>C Copied from the Exome Variant Server IRS1_000116 2/13006 2/8600 0/4406
?/? c.1382A>G r.(?) p.(Glu461Gly) g.227662073T>C Copied from the Exome Variant Server IRS1_000115 1/13006 1/8600 0/4406
?/? c.1437_1438insC r.(?) p.(Asn480Glnfs*31) g.227662017_227662018insG Copied from the Exome Variant Server IRS1_000114 1/12506 1/8240 0/4266
?/? c.1440C>T r.(=) p.(=) g.227662015G>A Copied from the Exome Variant Server IRS1_000113 9/13004 9/8600 0/4404
?/? c.1529A>C r.(?) p.(Glu510Ala) g.227661926T>G Copied from the Exome Variant Server IRS1_000112 2/13006 2/8600 0/4406
?/? c.1534G>C r.(?) p.(Ala512Pro) g.227661921C>G Copied from the Exome Variant Server IRS1_000111 196/13006 175/8600 21/4406
?/? c.1565G>A r.(?) p.(Arg522Gln) g.227661890C>T Copied from the Exome Variant Server IRS1_000110 1/13006 0/8600 1/4406
?/? c.1580C>T r.(?) p.(Ser527Leu) g.227661875G>A Copied from the Exome Variant Server IRS1_000109 1/13006 0/8600 1/4406
?/? c.1684G>A r.(?) p.(Gly562Ser) g.227661771C>T Copied from the Exome Variant Server IRS1_000108 1/13004 1/8600 0/4404
?/? c.1723G>A r.(?) p.(Ala575Thr) g.227661732C>T Copied from the Exome Variant Server IRS1_000107 1/13002 0/8600 1/4402
?/? c.1738C>T r.(?) p.(Arg580Cys) g.227661717G>A Copied from the Exome Variant Server IRS1_000106 1/13004 0/8600 1/4404
?/? c.1739G>T r.(?) p.(Arg580Leu) g.227661716C>A Copied from the Exome Variant Server IRS1_000105 1/13004 1/8600 0/4404
?/? c.1761G>C r.(=) p.(=) g.227661694C>G Copied from the Exome Variant Server IRS1_000104 2/13002 0/8598 2/4404
?/? c.1779G>A r.(=) p.(=) g.227661676C>T Copied from the Exome Variant Server IRS1_000103 1/13004 1/8598 0/4406
?/? c.1784G>C r.(?) p.(Arg595Pro) g.227661671C>G Copied from the Exome Variant Server IRS1_000101 1/13002 1/8596 0/4406
?/? c.1785G>A r.(=) p.(=) g.227661670C>T Copied from the Exome Variant Server IRS1_000099 12/13002 1/8596 11/4406
?/? c.1790G>A r.(?) p.(Gly597Glu) g.227661665C>T Copied from the Exome Variant Server IRS1_000102 3/13006 3/8600 0/4406
?/? c.1798C>T r.(?) p.(Arg600Cys) g.227661657G>A Copied from the Exome Variant Server IRS1_000100 1/13006 0/8600 1/4406
?/? c.1802C>T r.(?) p.(Pro601Leu) g.227661653G>A Copied from the Exome Variant Server IRS1_000098 19/13006 0/8600 19/4406
?/? c.1823C>T r.(?) p.(Thr608Met) g.227661632G>A Copied from the Exome Variant Server IRS1_000097 1/13006 1/8600 0/4406
?/? c.1824G>A r.(=) p.(=) g.227661631C>T Copied from the Exome Variant Server IRS1_000096 3/13006 3/8600 0/4406
?/? c.1914G>A r.(=) p.(=) g.227661541C>T Copied from the Exome Variant Server IRS1_000095 1/13006 1/8600 0/4406
?/? c.1977C>T r.(=) p.(=) g.227661478G>A Copied from the Exome Variant Server IRS1_000094 1/13006 0/8600 1/4406
?/? c.1980T>C r.(=) p.(=) g.227661475A>G Copied from the Exome Variant Server IRS1_000093 2/13006 0/8600 2/4406
?/? c.1986C>T r.(=) p.(=) g.227661469G>A Copied from the Exome Variant Server IRS1_000092 2/13006 2/8600 0/4406
?/? c.2004C>T r.(=) p.(=) g.227661451G>A Copied from the Exome Variant Server IRS1_000091 69/13006 4/8600 65/4406
?/? c.2054_2056del r.(?) p.(Ser686del) g.227661399_227661401del Copied from the Exome Variant Server IRS1_000089 637/12514 343/8248 294/4266
?/? c.2054_2056dup r.(?) p.(Ser686dup) g.227661399_227661401dup Copied from the Exome Variant Server IRS1_000090 6/12514 2/8248 4/4266
?/? c.2054_2059del r.(?) p.(Ser685_Ser686del) g.227661396_227661401del Copied from the Exome Variant Server IRS1_000088 22/12514 12/8248 10/4266
?/? c.2065G>A r.(?) p.(Val689Ile) g.227661390C>T Copied from the Exome Variant Server IRS1_000087 3/13006 3/8600 0/4406
?/? c.2074G>A r.(?) p.(Gly692Arg) g.227661381C>T Copied from the Exome Variant Server IRS1_000086 1/13006 1/8600 0/4406
?/? c.2084A>T r.(?) p.(Tyr695Phe) g.227661371T>A Copied from the Exome Variant Server IRS1_000085 30/13006 2/8600 28/4406
?/? c.2157G>A r.(=) p.(=) g.227661298C>T Copied from the Exome Variant Server IRS1_000084 1/13006 1/8600 0/4406
?/? c.2175C>T r.(=) p.(=) g.227661280G>A Copied from the Exome Variant Server IRS1_000083 2/13006 0/8600 2/4406
?/? c.2197A>G r.(?) p.(Met733Val) g.227661258T>C Copied from the Exome Variant Server IRS1_000082 2/13006 1/8600 1/4406
?/? c.2207C>T r.(?) p.(Ser736Leu) g.227661248G>A Copied from the Exome Variant Server IRS1_000081 2/13006 2/8600 0/4406
?/? c.2241C>T r.(=) p.(=) g.227661214G>A Copied from the Exome Variant Server IRS1_000080 1/13004 0/8598 1/4406
?/? c.2242G>A r.(?) p.(Asp748Asn) g.227661213C>T Copied from the Exome Variant Server IRS1_000079 1/13004 1/8598 0/4406
?/? c.2253C>T r.(=) p.(=) g.227661202G>A Copied from the Exome Variant Server IRS1_000078 2/13004 0/8598 2/4406
?/? c.2263G>T r.(?) p.(Asp755Tyr) g.227661192C>A Copied from the Exome Variant Server IRS1_000077 2/12998 2/8596 0/4402
?/? c.2286C>T r.(=) p.(=) g.227661169G>A Copied from the Exome Variant Server IRS1_000076 6/13006 6/8600 0/4406
?/? c.2331C>T r.(=) p.(=) g.227661124G>A Copied from the Exome Variant Server IRS1_000075 1/13006 0/8600 1/4406
?/? c.2339C>T r.(?) p.(Pro780Leu) g.227661116G>A Copied from the Exome Variant Server IRS1_000074 6/13006 0/8600 6/4406
?/? c.2340G>A r.(=) p.(=) g.227661115C>T Copied from the Exome Variant Server IRS1_000073 55/13006 33/8600 22/4406
?/? c.2358T>C r.(=) p.(=) g.227661097A>G Copied from the Exome Variant Server IRS1_000072 82/13006 76/8600 6/4406
?/? c.2386G>A r.(?) p.(Gly796Ser) g.227661069C>T Copied from the Exome Variant Server IRS1_000071 1/13006 1/8600 0/4406
?/? c.2412A>G r.(=) p.(=) g.227661043T>C Copied from the Exome Variant Server IRS1_000070 2586/13006 834/8600 1752/4406
?/? c.2440G>A r.(?) p.(Asp814Asn) g.227661015C>T Copied from the Exome Variant Server IRS1_000069 1/13006 1/8600 0/4406
?/? c.2445C>A r.(?) p.(Ser815Arg) g.227661010G>T Copied from the Exome Variant Server IRS1_000068 1/13006 0/8600 1/4406
?/? c.2452G>C r.(?) p.(Gly818Arg) g.227661003C>G Copied from the Exome Variant Server IRS1_000067 124/13004 110/8600 14/4404
?/? c.2509C>T r.(=) p.(=) g.227660946G>A Copied from the Exome Variant Server IRS1_000066 1/13004 0/8598 1/4406
?/? c.2561G>T r.(?) p.(Arg854Leu) g.227660894C>A Copied from the Exome Variant Server IRS1_000065 1/13006 1/8600 0/4406
?/? c.2617C>T r.(?) p.(Arg873Trp) g.227660838G>A Copied from the Exome Variant Server IRS1_000064 1/13004 0/8600 1/4404
?/? c.2622C>T r.(=) p.(=) g.227660833G>A Copied from the Exome Variant Server IRS1_000063 1/13006 0/8600 1/4406
?/? c.2673G>C r.(?) p.(Lys891Asn) g.227660782C>G Copied from the Exome Variant Server IRS1_000062 1/13006 1/8600 0/4406
?/? c.2674A>G r.(?) p.(Ser892Gly) g.227660781T>C Copied from the Exome Variant Server IRS1_000061 37/13006 32/8600 5/4406
?/? c.2679G>C r.(=) p.(=) g.227660776C>G Copied from the Exome Variant Server IRS1_000060 197/13006 184/8600 13/4406
?/? c.2711A>G r.(?) p.(Asp904Gly) g.227660744T>C Copied from the Exome Variant Server IRS1_000059 1/13006 1/8600 0/4406
?/? c.2736G>A r.(=) p.(=) g.227660719C>T Copied from the Exome Variant Server IRS1_000058 1/13006 1/8600 0/4406
?/? c.2766G>A r.(=) p.(=) g.227660689C>T Copied from the Exome Variant Server IRS1_000056 403/13006 6/8600 397/4406
?/? c.2787A>G r.(=) p.(=) g.227660668T>C Copied from the Exome Variant Server IRS1_000054 1/13006 0/8600 1/4406
?/? c.2795G>C r.(?) p.(Arg932Thr) g.227660660C>G Copied from the Exome Variant Server IRS1_000052 1/13006 1/8600 0/4406
?/? c.2799G>A r.(=) p.(=) g.227660656C>T Copied from the Exome Variant Server IRS1_000050 2/13006 0/8600 2/4406
?/? c.2814T>C r.(=) p.(=) g.227660641A>G Copied from the Exome Variant Server IRS1_000048 25/13006 24/8600 1/4406
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