All transcript variants in gene DHRSX

Information The variants shown are described using the NM_145177.2 transcript reference sequence.

227 entries on 3 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.109+162del r.(=) p.(=) g.2418696del Copied from the Exome Variant Server ZBED1_000133 40/68 30/46 10/22
?/? c.109+173del r.(=) p.(=) g.2418685del Copied from the Exome Variant Server ZBED1_000132 120/360 77/236 43/124
?/? c.109+233_109+237del r.(=) p.(=) g.2418621_2418625del Copied from the Exome Variant Server ZBED1_000131 24/1030 0/708 24/322
?/? c.109+330del r.(=) p.(=) g.2418528del Copied from the Exome Variant Server ZBED1_000130 18/2798 17/1936 1/862
?/? c.109+10052C>G r.(=) p.(=) g.2408806G>C Copied from the Exome Variant Server ZBED1_000129 1/12994 0/8588 1/4406
?/? c.109+10055C>T r.(=) p.(=) g.2408803G>A Copied from the Exome Variant Server ZBED1_000128 9/12994 9/8588 0/4406
?/? c.109+10060G>A r.(=) p.(=) g.2408798C>T Copied from the Exome Variant Server ZBED1_000127 1/12998 1/8592 0/4406
?/? c.109+10067C>T r.(=) p.(=) g.2408791G>A Copied from the Exome Variant Server ZBED1_000126 1/12998 0/8592 1/4406
?/? c.109+10078C>T r.(=) p.(=) g.2408780G>A Copied from the Exome Variant Server ZBED1_000125 1/12998 1/8592 0/4406
?/? c.109+10086G>A r.(=) p.(=) g.2408772C>T Copied from the Exome Variant Server ZBED1_000124 1/12998 1/8592 0/4406
?/? c.109+10124C>G r.(=) p.(=) g.2408734G>C Copied from the Exome Variant Server ZBED1_000123 1/12998 1/8592 0/4406
?/? c.109+10154C>G r.(=) p.(=) g.2408704G>C Copied from the Exome Variant Server ZBED1_000122 1/12998 0/8592 1/4406
?/? c.109+10199C>T r.(=) p.(=) g.2408659G>A Copied from the Exome Variant Server ZBED1_000121 56/12998 0/8592 56/4406
?/? c.109+10235C>T r.(=) p.(=) g.2408623G>A Copied from the Exome Variant Server ZBED1_000120 1/12998 0/8592 1/4406
?/? c.109+10259C>T r.(=) p.(=) g.2408599G>A Copied from the Exome Variant Server ZBED1_000119 1/12998 0/8592 1/4406
?/? c.109+10265C>T r.(=) p.(=) g.2408593G>A Copied from the Exome Variant Server ZBED1_000118 51/12998 43/8592 8/4406
?/? c.109+10271A>C r.(=) p.(=) g.2408587T>G Copied from the Exome Variant Server ZBED1_000117 3/12998 0/8592 3/4406
?/? c.109+10310C>T r.(=) p.(=) g.2408548G>A Copied from the Exome Variant Server ZBED1_000116 3/12998 0/8592 3/4406
?/? c.109+10313C>T r.(=) p.(=) g.2408545G>A Copied from the Exome Variant Server ZBED1_000115 312/12998 6/8592 306/4406
?/? c.109+10325C>T r.(=) p.(=) g.2408533G>A Copied from the Exome Variant Server ZBED1_000114 2/12998 2/8592 0/4406
?/? c.109+10332G>A r.(?) p.(Val79Ile) g.2408526C>T Copied from the Exome Variant Server ZBED1_000113 1/12998 1/8592 0/4406
?/? c.109+10352G>C r.(?) p.(Gln85His) g.2408506C>G Copied from the Exome Variant Server ZBED1_000112 1/12998 1/8592 0/4406
?/? c.109+10371A>C r.(?) p.(Thr92Pro) g.2408487T>G Copied from the Exome Variant Server ZBED1_000111 1/12998 1/8592 0/4406
?/? c.109+10373C>T r.(=) p.(=) g.2408485G>A Copied from the Exome Variant Server ZBED1_000110 3/12998 1/8592 2/4406
?/? c.109+10376C>G r.(=) p.(=) g.2408482G>C Copied from the Exome Variant Server ZBED1_000109 2/12998 0/8592 2/4406
?/? c.109+10400G>A r.(=) p.(=) g.2408458C>T Copied from the Exome Variant Server ZBED1_000108 2/12998 1/8592 1/4406
?/? c.109+10412C>T r.(=) p.(=) g.2408446G>A Copied from the Exome Variant Server ZBED1_000107 1/12998 0/8592 1/4406
?/? c.109+10421C>T r.(=) p.(=) g.2408437G>A Copied from the Exome Variant Server ZBED1_000106 2884/12998 2421/8592 463/4406
?/? c.109+10423C>T r.(?) p.(Ala109Val) g.2408435G>A Copied from the Exome Variant Server ZBED1_000105 1/12998 1/8592 0/4406
?/? c.109+10425C>T r.(=) p.(=) g.2408433G>A Copied from the Exome Variant Server ZBED1_000104 1/12998 0/8592 1/4406
?/? c.109+10439C>T r.(=) p.(=) g.2408419G>A Copied from the Exome Variant Server ZBED1_000103 1/12994 1/8590 0/4404
?/? c.109+10445C>T r.(=) p.(=) g.2408413G>A Copied from the Exome Variant Server ZBED1_000102 1/12992 1/8588 0/4404
?/? c.109+10451C>T r.(=) p.(=) g.2408407G>A Copied from the Exome Variant Server ZBED1_000101 3/12992 3/8588 0/4404
?/? c.109+10493C>T r.(=) p.(=) g.2408365G>A Copied from the Exome Variant Server ZBED1_000100 3/12998 0/8592 3/4406
?/? c.109+10503G>A r.(?) p.(Glu136Lys) g.2408355C>T Copied from the Exome Variant Server ZBED1_000099 1/12998 1/8592 0/4406
?/? c.109+10518G>C r.(?) p.(Ala141Pro) g.2408340C>G Copied from the Exome Variant Server ZBED1_000098 1/12998 1/8592 0/4406
?/? c.109+10520C>T r.(=) p.(=) g.2408338G>A Copied from the Exome Variant Server ZBED1_000096 1/12998 1/8592 0/4406
?/? c.109+10539A>G r.(?) p.(Thr148Ala) g.2408319T>C Copied from the Exome Variant Server ZBED1_000094 8/12998 8/8592 0/4406
?/? c.109+10544C>T r.(=) p.(=) g.2408314G>A Copied from the Exome Variant Server ZBED1_000097 1/12998 0/8592 1/4406
?/? c.109+10572C>T r.(?) p.(Arg159Trp) g.2408286G>A Copied from the Exome Variant Server ZBED1_000095 1/12998 0/8592 1/4406
?/? c.109+10601C>T r.(=) p.(=) g.2408257G>A Copied from the Exome Variant Server ZBED1_000093 15/12998 0/8592 15/4406
?/? c.109+10634C>T r.(=) p.(=) g.2408224G>A Copied from the Exome Variant Server ZBED1_000092 1/12998 1/8592 0/4406
?/? c.109+10635G>A r.(?) p.(Val180Ile) g.2408223C>T Copied from the Exome Variant Server ZBED1_000091 2/12998 1/8592 1/4406
?/? c.109+10640G>A r.(=) p.(=) g.2408218C>T Copied from the Exome Variant Server ZBED1_000090 1/12998 1/8592 0/4406
?/? c.109+10641G>A r.(?) p.(Glu182Lys) g.2408217C>T Copied from the Exome Variant Server ZBED1_000089 1/12998 1/8592 0/4406
?/? c.109+10658G>A r.(=) p.(=) g.2408200C>T Copied from the Exome Variant Server ZBED1_000088 15/12998 0/8592 15/4406
?/? c.109+10664C>T r.(=) p.(=) g.2408194G>A Copied from the Exome Variant Server ZBED1_000087 4/12998 4/8592 0/4406
?/? c.109+10691C>T r.(=) p.(=) g.2408167G>A Copied from the Exome Variant Server ZBED1_000086 1/12998 0/8592 1/4406
?/? c.109+10721C>T r.(=) p.(=) g.2408137G>A Copied from the Exome Variant Server ZBED1_000085 10/12998 1/8592 9/4406
?/? c.109+10727C>T r.(=) p.(=) g.2408131G>A Copied from the Exome Variant Server ZBED1_000084 3/12998 0/8592 3/4406
?/? c.109+10728G>A r.(?) p.(Val211Ile) g.2408130C>T Copied from the Exome Variant Server ZBED1_000083 1/12998 0/8592 1/4406
?/? c.109+10732C>T r.(?) p.(Thr212Met) g.2408126G>A Copied from the Exome Variant Server ZBED1_000082 1/12998 1/8592 0/4406
?/? c.109+10739C>T r.(=) p.(=) g.2408119G>A Copied from the Exome Variant Server ZBED1_000081 2/12998 2/8592 0/4406
?/? c.109+10771G>A r.(?) p.(Cys225Tyr) g.2408087C>T Copied from the Exome Variant Server ZBED1_000080 1/12998 1/8592 0/4406
?/? c.109+10814C>T r.(=) p.(=) g.2408044G>A Copied from the Exome Variant Server ZBED1_000079 1/12998 0/8592 1/4406
?/? c.109+10815G>A r.(?) p.(Glu240Lys) g.2408043C>T Copied from the Exome Variant Server ZBED1_000078 1/12998 1/8592 0/4406
?/? c.109+10826G>A r.(=) p.(=) g.2408032C>T Copied from the Exome Variant Server ZBED1_000077 6/12998 0/8592 6/4406
?/? c.109+10831A>G r.(?) p.(Glu245Gly) g.2408027T>C Copied from the Exome Variant Server ZBED1_000076 1/12998 1/8592 0/4406
?/? c.109+10865C>T r.(=) p.(=) g.2407993G>A Copied from the Exome Variant Server ZBED1_000075 1/12998 0/8592 1/4406
?/? c.109+10866G>A r.(?) p.(Glu257Lys) g.2407992C>T Copied from the Exome Variant Server ZBED1_000074 1/12998 1/8592 0/4406
?/? c.109+10881G>A r.(?) p.(Ala262Thr) g.2407977C>T Copied from the Exome Variant Server ZBED1_000073 1/12998 0/8592 1/4406
?/? c.109+10892C>T r.(=) p.(=) g.2407966G>A Copied from the Exome Variant Server ZBED1_000072 2/12998 2/8592 0/4406
?/? c.109+10931G>A r.(=) p.(=) g.2407927C>T Copied from the Exome Variant Server ZBED1_000071 264/12998 4/8592 260/4406
?/? c.109+10933G>A r.(?) p.(Cys279Tyr) g.2407925C>T Copied from the Exome Variant Server ZBED1_000070 1/12998 1/8592 0/4406
?/? c.109+10946C>T r.(=) p.(=) g.2407912G>A Copied from the Exome Variant Server ZBED1_000069 1/12998 1/8592 0/4406
?/? c.109+10949C>T r.(=) p.(=) g.2407909G>A Copied from the Exome Variant Server ZBED1_000068 1/12998 1/8592 0/4406
?/? c.109+10978C>G r.(?) p.(Thr294Ser) g.2407880G>C Copied from the Exome Variant Server ZBED1_000067 1/12998 0/8592 1/4406
?/? c.109+10984A>G r.(?) p.(Asn296Ser) g.2407874T>C Copied from the Exome Variant Server ZBED1_000066 4/12998 0/8592 4/4406
?/? c.109+10988C>T r.(=) p.(=) g.2407870G>A Copied from the Exome Variant Server ZBED1_000065 1/12998 1/8592 0/4406
?/? c.109+10989G>A r.(?) p.(Gly298Ser) g.2407869C>T Copied from the Exome Variant Server ZBED1_000064 3/12998 3/8592 0/4406
?/? c.109+11012C>A r.(=) p.(=) g.2407846G>T Copied from the Exome Variant Server ZBED1_000063 200/12998 2/8592 198/4406
?/? c.109+11036G>A r.(=) p.(=) g.2407822C>T Copied from the Exome Variant Server ZBED1_000062 2/12998 0/8592 2/4406
?/? c.109+11044G>A r.(?) p.(Arg316His) g.2407814C>T Copied from the Exome Variant Server ZBED1_000061 1/12998 1/8592 0/4406
?/? c.109+11075C>T r.(=) p.(=) g.2407783G>A Copied from the Exome Variant Server ZBED1_000060 24/12998 0/8592 24/4406
?/? c.109+11095A>G r.(?) p.(Tyr333Cys) g.2407763T>C Copied from the Exome Variant Server ZBED1_000059 1/12998 0/8592 1/4406
?/? c.109+11118G>A r.(?) p.(Val341Met) g.2407740C>T Copied from the Exome Variant Server ZBED1_000058 1/12998 0/8592 1/4406
?/? c.109+11146G>A r.(?) p.(Arg350His) g.2407712C>T Copied from the Exome Variant Server ZBED1_000057 1/12998 1/8592 0/4406
?/? c.109+11147C>T r.(=) p.(=) g.2407711G>A Copied from the Exome Variant Server ZBED1_000056 5/12998 3/8592 2/4406
?/? c.109+11148G>A r.(?) p.(Val351Ile) g.2407710C>T Copied from the Exome Variant Server ZBED1_000055 1/12998 0/8592 1/4406
?/? c.109+11185G>A r.(?) p.(Arg363His) g.2407673C>T Copied from the Exome Variant Server ZBED1_000054 1/12998 1/8592 0/4406
?/? c.109+11213C>T r.(=) p.(=) g.2407645G>A Copied from the Exome Variant Server ZBED1_000053 1/12998 0/8592 1/4406
?/? c.109+11297C>T r.(=) p.(=) g.2407561G>A Copied from the Exome Variant Server ZBED1_000052 1/12998 1/8592 0/4406
?/? c.109+11321C>T r.(=) p.(=) g.2407537G>A Copied from the Exome Variant Server ZBED1_000051 5/12998 5/8592 0/4406
?/? c.109+11385C>T r.(=) p.(=) g.2407473G>A Copied from the Exome Variant Server ZBED1_000050 1/12998 1/8592 0/4406
?/? c.109+11415G>A r.(?) p.(Asp440Asn) g.2407443C>T Copied from the Exome Variant Server ZBED1_000049 1/12998 0/8592 1/4406
?/? c.109+11445G>A r.(?) p.(Val450Ile) g.2407413C>T Copied from the Exome Variant Server ZBED1_000048 1/12998 1/8592 0/4406
?/? c.109+11451G>A r.(?) p.(Ala452Thr) g.2407407C>T Copied from the Exome Variant Server ZBED1_000047 2/12998 2/8592 0/4406
?/? c.109+11471C>G r.(=) p.(=) g.2407387G>C Copied from the Exome Variant Server ZBED1_000045 1/12998 1/8592 0/4406
?/? c.109+11480G>A r.(=) p.(=) g.2407378C>T Copied from the Exome Variant Server ZBED1_000046 1/12998 1/8592 0/4406
?/? c.109+11482C>T r.(?) p.(Thr462Met) g.2407376G>A Copied from the Exome Variant Server ZBED1_000044 1/12998 1/8592 0/4406
?/? c.109+11507C>T r.(=) p.(=) g.2407351G>A Copied from the Exome Variant Server ZBED1_000043 1/12998 1/8592 0/4406
?/? c.109+11525C>G r.(?) p.(Asp476Glu) g.2407333G>C Copied from the Exome Variant Server ZBED1_000042 1/12998 1/8592 0/4406
?/? c.109+11561C>T r.(=) p.(=) g.2407297G>A Copied from the Exome Variant Server ZBED1_000041 1/12998 1/8592 0/4406
?/? c.109+11579G>A r.(=) p.(=) g.2407279C>T Copied from the Exome Variant Server ZBED1_000040 2/12998 0/8592 2/4406
?/? c.109+11584G>A r.(?) p.(Arg496His) g.2407274C>T Copied from the Exome Variant Server ZBED1_000039 1/12998 1/8592 0/4406
?/? c.109+11630C>T r.(=) p.(=) g.2407228G>A Copied from the Exome Variant Server ZBED1_000038 6/12998 0/8592 6/4406
?/? c.109+11651C>T r.(=) p.(=) g.2407207G>A Copied from the Exome Variant Server ZBED1_000037 109/12998 24/8592 85/4406
?/? c.109+11669C>T r.(=) p.(=) g.2407189G>A Copied from the Exome Variant Server ZBED1_000036 39/12998 0/8592 39/4406
?/? c.109+11681C>T r.(=) p.(=) g.2407177G>A Copied from the Exome Variant Server ZBED1_000035 1/12998 1/8592 0/4406
?/? c.109+11707C>T r.(?) p.(Thr537Met) g.2407151G>A Copied from the Exome Variant Server ZBED1_000034 1/12998 1/8592 0/4406
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