Unique variants in gene TYR

Information The variants shown are described using the NM_000372.4 transcript reference sequence.

115 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.-33G>T r.(=) p.(=) g.88911089G>T Copied from the Exome Variant Server TYR_000001 1/13000 0/8598 1/4402
1 c.-10T>C r.(=) p.(=) g.88911112T>C Copied from the Exome Variant Server TYR_000002 1/13000 1/8598 0/4402
1 c.1A>G r.? p.? g.88911122A>G Copied from the Exome Variant Server TYR_000003 2/13000 2/8598 0/4402
1 c.8T>C r.(?) p.(Leu3Pro) g.88911129T>C Copied from the Exome Variant Server TYR_000004 1/13000 1/8598 0/4402
1 c.16T>A r.(?) p.(Leu6Met) g.88911137T>A Copied from the Exome Variant Server TYR_000005 1/13000 1/8598 0/4402
1 c.48C>T r.(=) p.(=) g.88911169C>T Copied from the Exome Variant Server TYR_000006 1/13000 1/8598 0/4402
1 c.71G>A r.(?) p.(Cys24Tyr) g.88911192G>A Copied from the Exome Variant Server TYR_000007 1/13000 1/8598 0/4402
1 c.96G>A r.(=) p.(=) g.88911217G>A Copied from the Exome Variant Server TYR_000008 1/13000 1/8598 0/4402
1 c.114G>A r.(=) p.(=) g.88911235G>A Copied from the Exome Variant Server TYR_000009 224/13000 2/8598 222/4402
1 c.120C>T r.(=) p.(=) g.88911241C>T Copied from the Exome Variant Server TYR_000010 1/13000 1/8598 0/4402
1 c.129G>A r.(=) p.(=) g.88911250G>A Copied from the Exome Variant Server TYR_000011 1/13000 1/8598 0/4402
1 c.134C>T r.(?) p.(Pro45Leu) g.88911255C>T Copied from the Exome Variant Server TYR_000012 1/13000 1/8598 0/4402
1 c.178C>T r.(=) p.(=) g.88911299C>T Copied from the Exome Variant Server TYR_000013 223/13000 1/8598 222/4402
1 c.191C>A r.(?) p.(Pro64Gln) g.88911312C>A Copied from the Exome Variant Server TYR_000014 1/13000 1/8598 0/4402
1 c.220G>A r.(?) p.(Val74Met) g.88911341G>A Copied from the Exome Variant Server TYR_000015 1/13000 0/8598 1/4402
1 c.230G>A r.(?) p.(Arg77Gln) g.88911351G>A Copied from the Exome Variant Server TYR_000016 3/13000 3/8598 0/4402
1 c.234G>T r.(?) p.(Glu78Asp) g.88911355G>T Copied from the Exome Variant Server TYR_000017 1/13000 1/8598 0/4402
1 c.237G>A r.(=) p.(=) g.88911358G>A Copied from the Exome Variant Server TYR_000018 1/13000 0/8598 1/4402
1 c.242C>T r.(?) p.(Pro81Leu) g.88911363C>T Copied from the Exome Variant Server TYR_000019 3/13000 2/8598 1/4402
1 c.246C>T r.(=) p.(=) g.88911367C>T Copied from the Exome Variant Server TYR_000020 1/13000 1/8598 0/4402
1 c.247G>A r.(?) p.(Val83Ile) g.88911368G>A Copied from the Exome Variant Server TYR_000021 1/13000 1/8598 0/4402
1 c.336_337del r.(?) p.(Thr113Argfs*55) g.88911457_88911458del Copied from the Exome Variant Server TYR_000022 1/12518 1/8254 0/4264
1 c.413T>G r.(?) p.(Leu138Arg) g.88911534T>G Copied from the Exome Variant Server TYR_000023 1/13000 0/8598 1/4402
1 c.453C>A r.(=) p.(=) g.88911574C>A Copied from the Exome Variant Server TYR_000024 1/13000 0/8598 1/4402
1 c.454C>T r.(?) p.(Pro152Ser) g.88911575C>T Copied from the Exome Variant Server TYR_000025 3/13000 3/8598 0/4402
1 c.470G>A r.(?) p.(Gly157Asp) g.88911591G>A Copied from the Exome Variant Server TYR_000026 1/13000 0/8598 1/4402
1 c.504C>T r.(=) p.(=) g.88911625C>T Copied from the Exome Variant Server TYR_000027 7/13000 7/8598 0/4402
1 c.573A>G r.(=) p.(=) g.88911694A>G Copied from the Exome Variant Server TYR_000028 1/13000 0/8598 1/4402
1 c.575C>A r.(?) p.(Ser192Tyr) g.88911696C>A Copied from the Exome Variant Server TYR_000029 3572/13000 3239/8598 333/4402
1 c.585G>A r.(?) p.(Trp195*) g.88911706G>A Copied from the Exome Variant Server TYR_000030 1/13000 0/8598 1/4402
1 c.602C>T r.(?) p.(Ala201Val) g.88911723C>T Copied from the Exome Variant Server TYR_000031 1/13000 0/8598 1/4402
1 c.635G>A r.(?) p.(Arg212Lys) g.88911756G>A Copied from the Exome Variant Server TYR_000032 1/13000 1/8598 0/4402
1 c.649C>T r.(?) p.(Arg217Trp) g.88911770C>T Copied from the Exome Variant Server TYR_000033 1/13000 0/8598 1/4402
1 c.650G>A r.(?) p.(Arg217Gln) g.88911771G>A Copied from the Exome Variant Server TYR_000034 4/13000 4/8598 0/4402
1 c.665T>C r.(?) p.(Ile222Thr) g.88911786T>C Copied from the Exome Variant Server TYR_000035 12/13000 0/8598 12/4402
1 c.668A>G r.(?) p.(Gln223Arg) g.88911789A>G Copied from the Exome Variant Server TYR_000036 1/13000 0/8598 1/4402
1 c.690C>A r.(?) p.(Asn230Lys) g.88911811C>A Copied from the Exome Variant Server TYR_000037 1/13000 0/8598 1/4402
1 c.700C>A r.(?) p.(Pro234Thr) g.88911821C>A Copied from the Exome Variant Server TYR_000038 1/13000 0/8598 1/4402
1 c.705T>C r.(=) p.(=) g.88911826T>C Copied from the Exome Variant Server TYR_000039 2/13000 0/8598 2/4402
1 c.716G>A r.(?) p.(Arg239Gln) g.88911837G>A Copied from the Exome Variant Server TYR_000040 2/13000 1/8598 1/4402
1 c.754A>G r.(?) p.(Met252Val) g.88911875A>G Copied from the Exome Variant Server TYR_000041 1/13000 0/8598 1/4402
1 c.759A>T r.(=) p.(=) g.88911880A>T Copied from the Exome Variant Server TYR_000042 1/13000 1/8598 0/4402
1 c.809C>T r.(?) p.(Ser270Phe) g.88911930C>T Copied from the Exome Variant Server TYR_000043 1/13000 1/8598 0/4402
1 c.819+8A>G r.(=) p.(=) g.88911948A>G Copied from the Exome Variant Server TYR_000044 1/13000 1/8598 0/4402
1 c.819+20C>A r.(=) p.(=) g.88911960C>A Copied from the Exome Variant Server TYR_000045 1/13000 1/8598 0/4402
1 c.820-45T>A r.(=) p.(=) g.88924325T>A Copied from the Exome Variant Server TYR_000046 1/13000 0/8598 1/4402
1 c.820-18T>C r.(=) p.(=) g.88924352T>C Copied from the Exome Variant Server TYR_000047 1/13000 0/8598 1/4402
1 c.835T>C r.(=) p.(=) g.88924385T>C Copied from the Exome Variant Server TYR_000048 99/13000 0/8598 99/4402
1 c.840G>A r.(=) p.(=) g.88924390G>A Copied from the Exome Variant Server TYR_000050 1/13000 0/8598 1/4402
1 c.842A>G r.(?) p.(Glu281Gly) g.88924392A>G Copied from the Exome Variant Server TYR_000052 2/13000 0/8598 2/4402
1 c.845A>G r.(?) p.(Tyr282Cys) g.88924395A>G Copied from the Exome Variant Server TYR_000049 1/13000 0/8598 1/4402
1 c.864A>T r.(?) p.(Leu288Phe) g.88924414A>T Copied from the Exome Variant Server TYR_000051 1/13000 1/8598 0/4402
1 c.893G>A r.(?) p.(Arg298Gln) g.88924443G>A Copied from the Exome Variant Server TYR_000053 1/13000 0/8598 1/4402
1 c.913G>A r.(?) p.(Asp305Asn) g.88924463G>A Copied from the Exome Variant Server TYR_000054 1/13000 1/8598 0/4402
1 c.915C>A r.(?) p.(Asp305Glu) g.88924465C>A Copied from the Exome Variant Server TYR_000055 2/13000 2/8598 0/4402
1 c.930A>C r.(=) p.(=) g.88924480A>C Copied from the Exome Variant Server TYR_000056 1/13000 1/8598 0/4402
1 c.983A>T r.(?) p.(Glu328Val) g.88924533A>T Copied from the Exome Variant Server TYR_000057 1/13000 0/8598 1/4402
1 c.992C>G r.(?) p.(Ser331Cys) g.88924542C>G Copied from the Exome Variant Server TYR_000058 1/13000 1/8598 0/4402
1 c.995T>C r.(?) p.(Met332Thr) g.88924545T>C Copied from the Exome Variant Server TYR_000059 1/13000 1/8598 0/4402
1 c.1036+25_1036+26insT r.(=) p.(=) g.88924611_88924612insT Copied from the Exome Variant Server TYR_000060 32/12508 27/8250 5/4258
1 c.1036+27T>C r.(=) p.(=) g.88924613T>C Copied from the Exome Variant Server TYR_000061 31/12996 0/8594 31/4402
1 c.1036+564T>C r.(=) p.(=) g.88925150T>C Copied from the Exome Variant Server TYR_000062 16/5570 16/3858 0/1712
1 c.1036+569T>C r.(=) p.(=) g.88925155T>C Copied from the Exome Variant Server TYR_000063 1/5566 0/3860 1/1706
1 c.1036+597G>A r.(=) p.(=) g.88925183G>A Copied from the Exome Variant Server TYR_000065 1/5626 1/3914 0/1712
1 c.1037-30_1037-29del r.(=) p.(=) g.88960961_88960962del Copied from the Exome Variant Server TYR_000067 10/12514 0/8250 10/4264
1 c.1037-28_1037-27insT r.(=) p.(=) g.88960963_88960964insT Copied from the Exome Variant Server TYR_000069 5/12514 1/8250 4/4264
1 c.1037-19_1037-18insT r.(=) p.(=) g.88960972_88960973insT Copied from the Exome Variant Server TYR_000071 8/12516 6/8252 2/4264
1 c.1037-7T>A r.(=) p.(=) g.88960984T>A Copied from the Exome Variant Server TYR_000073 10/12998 9/8596 1/4402
1 c.1064C>T r.(?) p.(Ala355Val) g.88961018C>T Copied from the Exome Variant Server TYR_000075 2/12998 2/8596 0/4402
1 c.1065G>A r.(=) p.(=) g.88961019G>A Copied from the Exome Variant Server TYR_000077 1/12998 1/8596 0/4402
1 c.1101C>A r.(?) p.(His367Gln) g.88961055C>A Copied from the Exome Variant Server TYR_000079 1/12998 1/8596 0/4402
1 c.1106A>G r.(?) p.(Tyr369Cys) g.88961060A>G Copied from the Exome Variant Server TYR_000081 1/12998 1/8596 0/4402
1 c.1111A>T r.(?) p.(Asn371Tyr) g.88961065A>T Copied from the Exome Variant Server TYR_000083 1/12998 1/8596 0/4402
1 c.1118C>A r.(?) p.(Thr373Lys) g.88961072C>A Copied from the Exome Variant Server TYR_000085 7/12998 7/8596 0/4402
1 c.1146C>T r.(=) p.(=) g.88961100C>T Copied from the Exome Variant Server TYR_000087 1/12998 1/8596 0/4402
1 c.1161T>C r.(=) p.(=) g.88961115T>C Copied from the Exome Variant Server TYR_000064 3/12998 3/8596 0/4402
1 c.1168C>G r.(?) p.(His390Asp) g.88961122C>G Copied from the Exome Variant Server TYR_000066 1/12998 1/8596 0/4402
1 c.1184+20T>C r.(=) p.(=) g.88961158T>C Copied from the Exome Variant Server TYR_000068 2/12998 2/8596 0/4402
1 c.1184+27C>T r.(=) p.(=) g.88961165C>T Copied from the Exome Variant Server TYR_000070 33/12998 31/8596 2/4402
1 c.1184+33C>T r.(=) p.(=) g.88961171C>T Copied from the Exome Variant Server TYR_000072 57/12998 0/8596 57/4402
1 c.1184+50G>A r.(=) p.(=) g.88961188G>A Copied from the Exome Variant Server TYR_000074 2151/12998 899/8596 1252/4402
1 c.1185-6C>T r.(=) p.(=) g.89017935C>T Copied from the Exome Variant Server TYR_000076 6/12992 6/8594 0/4398
1 c.1200G>T r.(?) p.(Trp400Cys) g.89017956G>T Copied from the Exome Variant Server TYR_000078 1/13000 1/8598 0/4402
1 c.1205G>A r.(?) p.(Arg402Gln) g.89017961G>A Copied from the Exome Variant Server TYR_000080 2641/13000 2418/8598 223/4402
1 c.1209G>T r.(?) p.(Arg403Ser) g.89017965G>T Copied from the Exome Variant Server TYR_000082 1/13000 1/8598 0/4402
1 c.1217C>T r.(?) p.(Pro406Leu) g.89017973C>T Copied from the Exome Variant Server TYR_000084 47/13000 42/8598 5/4402
1 c.1260T>C r.(=) p.(=) g.89018016T>C Copied from the Exome Variant Server TYR_000086 1/13000 0/8598 1/4402
1 c.1291C>A r.(?) p.(Pro431Thr) g.89018047C>A Copied from the Exome Variant Server TYR_000088 1/12998 1/8596 0/4402
1 c.1342G>C r.(?) p.(Asp448His) g.89018098G>C Copied from the Exome Variant Server TYR_000089 1/12998 1/8596 0/4402
1 c.1348A>T r.(?) p.(Ser450Cys) g.89018104A>T Copied from the Exome Variant Server TYR_000090 1/12994 0/8592 1/4402
1 c.1352A>G r.(?) p.(Tyr451Cys) g.89018108A>G Copied from the Exome Variant Server TYR_000091 2/12992 2/8590 0/4402
1 c.1357C>A r.(?) p.(Gln453Lys) g.89018113C>A Copied from the Exome Variant Server TYR_000092 1/12994 1/8592 0/4402
1 c.1366+1G>A r.spl? p.? g.89018123G>A Copied from the Exome Variant Server TYR_000093 1/12996 1/8594 0/4402
1 c.1366+4A>G r.spl? p.? g.89018126A>G Copied from the Exome Variant Server TYR_000094 26/12994 23/8592 3/4402
1 c.1366+29G>T r.(=) p.(=) g.89018151G>T Copied from the Exome Variant Server TYR_000095 1/12990 0/8590 1/4400
1 c.1366+42T>C r.(=) p.(=) g.89018164T>C Copied from the Exome Variant Server TYR_000096 1/12976 0/8578 1/4398
1 c.1367-50C>T r.(=) p.(=) g.89028261C>T Copied from the Exome Variant Server TYR_000097 7/12996 0/8594 7/4402
1 c.1367-45C>G r.(=) p.(=) g.89028266C>G Copied from the Exome Variant Server TYR_000098 7/12996 0/8594 7/4402
1 c.1367-39T>C r.(=) p.(=) g.89028272T>C Copied from the Exome Variant Server TYR_000099 6/12996 0/8594 6/4402
1 c.1367-18G>A r.(=) p.(=) g.89028293G>A Copied from the Exome Variant Server TYR_000100 4/12994 2/8592 2/4402
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