All transcript variants in gene ANKRD55

Information The variants shown are described using the NM_024669.2 transcript reference sequence.

127 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.-33-11C>A r.(=) p.(=) g.55528784G>T Copied from the Exome Variant Server ANKRD55_000115 1/13006 1/8600 0/4406
?/? c.58+50A>C r.(=) p.(=) g.55528633T>G Copied from the Exome Variant Server ANKRD55_000113 2/13006 2/8600 0/4406
?/? c.59-41T>C r.(=) p.(=) g.55479502A>G Copied from the Exome Variant Server ANKRD55_000127 1/13006 1/8600 0/4406
?/? c.59-38C>A r.(=) p.(=) g.55479499G>T Copied from the Exome Variant Server ANKRD55_000126 1/13006 1/8600 0/4406
?/? c.59-11T>G r.(=) p.(=) g.55479472A>C Copied from the Exome Variant Server ANKRD55_000125 500/13006 14/8600 486/4406
?/? c.77T>C r.(?) p.(Val26Ala) g.55479443A>G Copied from the Exome Variant Server ANKRD55_000124 2/13006 0/8600 2/4406
?/? c.115G>C r.(?) p.(Asp39His) g.55479405C>G Copied from the Exome Variant Server ANKRD55_000123 1/13006 1/8600 0/4406
?/? c.157A>C r.(?) p.(Ile53Leu) g.55479363T>G Copied from the Exome Variant Server ANKRD55_000122 1/13006 0/8600 1/4406
?/? c.159C>T r.(=) p.(=) g.55479361G>A Copied from the Exome Variant Server ANKRD55_000121 13/13006 0/8600 13/4406
?/? c.166T>A r.(?) p.(Cys56Ser) g.55479354A>T Copied from the Exome Variant Server ANKRD55_000120 2/13006 2/8600 0/4406
?/? c.181+9T>C r.(=) p.(=) g.55479330A>G Copied from the Exome Variant Server ANKRD55_000119 1/13006 1/8600 0/4406
?/? c.181+30A>G r.(=) p.(=) g.55479309T>C Copied from the Exome Variant Server ANKRD55_000118 107/13006 4/8600 103/4406
?/? c.181+46T>C r.(=) p.(=) g.55479293A>G Copied from the Exome Variant Server ANKRD55_000117 1267/13006 389/8600 878/4406
?/? c.182-44A>T r.(=) p.(=) g.55472153T>A Copied from the Exome Variant Server ANKRD55_000116 1/13006 1/8600 0/4406
?/? c.182-17G>A r.(=) p.(=) g.55472126C>T Copied from the Exome Variant Server ANKRD55_000114 1/13006 0/8600 1/4406
?/? c.182-16A>C r.(=) p.(=) g.55472125T>G Copied from the Exome Variant Server ANKRD55_000112 2/13006 1/8600 1/4406
?/? c.201T>C r.(=) p.(=) g.55472090A>G Copied from the Exome Variant Server ANKRD55_000111 8/13006 1/8600 7/4406
?/? c.204G>A r.(=) p.(=) g.55472087C>T Copied from the Exome Variant Server ANKRD55_000110 2/13006 0/8600 2/4406
?/? c.214C>T r.(?) p.(Arg72Cys) g.55472077G>A Copied from the Exome Variant Server ANKRD55_000109 3/13006 3/8600 0/4406
?/? c.221C>T r.(?) p.(Ala74Val) g.55472070G>A Copied from the Exome Variant Server ANKRD55_000108 1/13006 1/8600 0/4406
?/? c.236T>C r.(?) p.(Leu79Pro) g.55472055A>G Copied from the Exome Variant Server ANKRD55_000107 2/13006 1/8600 1/4406
?/? c.248T>C r.(?) p.(Met83Thr) g.55472043A>G Copied from the Exome Variant Server ANKRD55_000105 1/13006 0/8600 1/4406
?/? c.264C>T r.(=) p.(=) g.55472027G>A Copied from the Exome Variant Server ANKRD55_000103 1/13006 0/8600 1/4406
?/? c.307T>A r.(?) p.(Tyr103Asn) g.55471984A>T Copied from the Exome Variant Server ANKRD55_000101 8/13006 8/8600 0/4406
?/? c.312+11G>A r.(=) p.(=) g.55471968C>T Copied from the Exome Variant Server ANKRD55_000099 1/13006 0/8600 1/4406
?/? c.312+27G>A r.(=) p.(=) g.55471952C>T Copied from the Exome Variant Server ANKRD55_000097 59/13006 7/8600 52/4406
?/? c.313-44G>A r.(=) p.(=) g.55466674C>T Copied from the Exome Variant Server ANKRD55_000095 1/13006 1/8600 0/4406
?/? c.313-30T>C r.(=) p.(=) g.55466660A>G Copied from the Exome Variant Server ANKRD55_000106 6/13006 6/8600 0/4406
?/? c.313-6T>C r.(=) p.(=) g.55466636A>G Copied from the Exome Variant Server ANKRD55_000104 1/13006 1/8600 0/4406
?/? c.335G>A r.(?) p.(Ser112Asn) g.55466608C>T Copied from the Exome Variant Server ANKRD55_000102 24/13006 0/8600 24/4406
?/? c.422+16del r.(=) p.(=) g.55466505del Copied from the Exome Variant Server ANKRD55_000100 11/12520 11/8254 0/4266
?/? c.422+27C>T r.(=) p.(=) g.55466494G>A Copied from the Exome Variant Server ANKRD55_000098 1/13006 0/8600 1/4406
?/? c.422+50T>C r.(=) p.(=) g.55466471A>G Copied from the Exome Variant Server ANKRD55_000096 14/13006 0/8600 14/4406
?/? c.423-62G>T r.(=) p.(=) g.55455782C>A Copied from the Exome Variant Server ANKRD55_000094 2/4566 0/3182 2/1384
?/? c.423-47G>A r.(=) p.(=) g.55455767C>T Copied from the Exome Variant Server ANKRD55_000093 1/13006 0/8600 1/4406
?/? c.432G>A r.(=) p.(=) g.55455711C>T Copied from the Exome Variant Server ANKRD55_000092 2/13006 2/8600 0/4406
?/? c.447G>T r.(?) p.(Gln149His) g.55455696C>A Copied from the Exome Variant Server ANKRD55_000091 1/13006 0/8600 1/4406
?/? c.449C>T r.(?) p.(Ser150Leu) g.55455694G>A Copied from the Exome Variant Server ANKRD55_000090 1/13006 0/8600 1/4406
?/? c.483+15C>G r.(=) p.(=) g.55455645G>C Copied from the Exome Variant Server ANKRD55_000089 1419/13006 1272/8600 147/4406
?/? c.483+42G>A r.(=) p.(=) g.55455618C>T Copied from the Exome Variant Server ANKRD55_000088 1/13006 0/8600 1/4406
?/? c.483+60G>A r.(=) p.(=) g.55455600C>T Copied from the Exome Variant Server ANKRD55_000087 130/4566 120/3182 10/1384
?/? c.484-27C>A r.(=) p.(=) g.55439783G>T Copied from the Exome Variant Server ANKRD55_000086 1/13006 1/8600 0/4406
?/? c.519C>T r.(=) p.(=) g.55439721G>A Copied from the Exome Variant Server ANKRD55_000085 1/13006 0/8600 1/4406
?/? c.570T>G r.(=) p.(=) g.55439670A>C Copied from the Exome Variant Server ANKRD55_000084 1/13006 0/8600 1/4406
?/? c.591C>T r.(=) p.(=) g.55439649G>A Copied from the Exome Variant Server ANKRD55_000083 1/13006 0/8600 1/4406
?/? c.600C>T r.(=) p.(=) g.55439640G>A Copied from the Exome Variant Server ANKRD55_000082 2/13006 1/8600 1/4406
?/? c.606A>G r.(=) p.(=) g.55439634T>C Copied from the Exome Variant Server ANKRD55_000081 1/13006 1/8600 0/4406
?/? c.607G>T r.(?) p.(Val203Phe) g.55439633C>A Copied from the Exome Variant Server ANKRD55_000080 1/13006 0/8600 1/4406
?/? c.612G>C r.(?) p.(Gln204His) g.55439628C>G Copied from the Exome Variant Server ANKRD55_000079 2/13006 2/8600 0/4406
?/? c.612+30G>C r.(=) p.(=) g.55439598C>G Copied from the Exome Variant Server ANKRD55_000078 2/13006 2/8600 0/4406
?/? c.613-23C>T r.(=) p.(=) g.55422956G>A Copied from the Exome Variant Server ANKRD55_000077 1/13006 0/8600 1/4406
?/? c.623G>A r.(?) p.(Arg208Lys) g.55422923C>T Copied from the Exome Variant Server ANKRD55_000076 2/13006 0/8600 2/4406
?/? c.628C>G r.(?) p.(Leu210Val) g.55422918G>C Copied from the Exome Variant Server ANKRD55_000075 1/13006 1/8600 0/4406
?/? c.667A>T r.(?) p.(Ile223Leu) g.55422879T>A Copied from the Exome Variant Server ANKRD55_000074 1/13006 1/8600 0/4406
?/? c.669A>G r.(?) p.(Ile223Met) g.55422877T>C Copied from the Exome Variant Server ANKRD55_000073 59/13006 0/8600 59/4406
?/? c.699A>G r.(=) p.(=) g.55422847T>C Copied from the Exome Variant Server ANKRD55_000072 1/13006 1/8600 0/4406
?/? c.717G>A r.(=) p.(=) g.55422829C>T Copied from the Exome Variant Server ANKRD55_000071 1/13006 1/8600 0/4406
?/? c.723G>A r.(=) p.(=) g.55422823C>T Copied from the Exome Variant Server ANKRD55_000070 366/13006 4/8600 362/4406
?/? c.732C>A r.(?) p.(Ser244Arg) g.55422814G>T Copied from the Exome Variant Server ANKRD55_000069 1/13006 0/8600 1/4406
?/? c.759C>T r.(=) p.(=) g.55422787G>A Copied from the Exome Variant Server ANKRD55_000068 1/13006 1/8600 0/4406
?/? c.797+39T>C r.(=) p.(=) g.55422710A>G Copied from the Exome Variant Server ANKRD55_000067 1/13006 1/8600 0/4406
?/? c.798-48C>A r.(=) p.(=) g.55412657G>T Copied from the Exome Variant Server ANKRD55_000066 6/12994 5/8590 1/4404
?/? c.798-47A>G r.(=) p.(=) g.55412656T>C Copied from the Exome Variant Server ANKRD55_000065 1/12992 0/8590 1/4402
?/? c.798-31C>T r.(=) p.(=) g.55412640G>A Copied from the Exome Variant Server ANKRD55_000063 11/13004 0/8598 11/4406
?/? c.798-18T>C r.(=) p.(=) g.55412627A>G Copied from the Exome Variant Server ANKRD55_000061 396/13002 357/8596 39/4406
?/? c.823G>T r.(?) p.(Ala275Ser) g.55412584C>A Copied from the Exome Variant Server ANKRD55_000059 1/13006 0/8600 1/4406
?/? c.835G>A r.(?) p.(Glu279Lys) g.55412572C>T Copied from the Exome Variant Server ANKRD55_000057 104/13006 93/8600 11/4406
?/? c.881G>A r.(?) p.(Arg294Gln) g.55412526C>T Copied from the Exome Variant Server ANKRD55_000055 1/13006 0/8600 1/4406
?/? c.921C>G r.(?) p.(Tyr307*) g.55412486G>C Copied from the Exome Variant Server ANKRD55_000053 2/13006 2/8600 0/4406
?/? c.926G>A r.(?) p.(Gly309Asp) g.55412481C>T Copied from the Exome Variant Server ANKRD55_000051 1/13006 1/8600 0/4406
?/? c.933G>A r.(=) p.(=) g.55412474C>T Copied from the Exome Variant Server ANKRD55_000049 1/13006 0/8600 1/4406
?/? c.936G>A r.(=) p.(=) g.55412471C>T Copied from the Exome Variant Server ANKRD55_000047 1428/13006 470/8600 958/4406
?/? c.949C>T r.(?) p.(Leu317Phe) g.55412458G>A Copied from the Exome Variant Server ANKRD55_000045 1/13006 1/8600 0/4406
?/? c.951C>G r.(=) p.(=) g.55412456G>C Copied from the Exome Variant Server ANKRD55_000043 1/13006 0/8600 1/4406
?/? c.954C>G r.(=) p.(=) g.55412453G>C Copied from the Exome Variant Server ANKRD55_000041 3/13006 2/8600 1/4406
?/? c.965+13G>A r.(=) p.(=) g.55412429C>T Copied from the Exome Variant Server ANKRD55_000039 1/13006 0/8600 1/4406
?/? c.965+16G>A r.(=) p.(=) g.55412426C>T Copied from the Exome Variant Server ANKRD55_000037 1/13006 0/8600 1/4406
?/? c.966-12A>G r.(=) p.(=) g.55407621T>C Copied from the Exome Variant Server ANKRD55_000064 1/13006 1/8600 0/4406
?/? c.966-7C>T r.(=) p.(=) g.55407616G>A Copied from the Exome Variant Server ANKRD55_000062 2/13006 0/8600 2/4406
?/? c.1003C>T r.(?) p.(Arg335Trp) g.55407572G>A Copied from the Exome Variant Server ANKRD55_000060 1/13006 0/8600 1/4406
?/? c.1004G>A r.(?) p.(Arg335Gln) g.55407571C>T Copied from the Exome Variant Server ANKRD55_000058 1/13006 1/8600 0/4406
?/? c.1024C>T r.(?) p.(Arg342Trp) g.55407551G>A Copied from the Exome Variant Server ANKRD55_000056 12/13006 12/8600 0/4406
?/? c.1033G>A r.(?) p.(Val345Met) g.55407542C>T Copied from the Exome Variant Server ANKRD55_000054 2741/13006 2313/8600 428/4406
?/? c.1034T>C r.(?) p.(Val345Ala) g.55407541A>G Copied from the Exome Variant Server ANKRD55_000052 1/13006 1/8600 0/4406
?/? c.1040A>G r.(?) p.(Asn347Ser) g.55407535T>C Copied from the Exome Variant Server ANKRD55_000050 1/13006 0/8600 1/4406
?/? c.1052G>T r.(?) p.(Cys351Phe) g.55407523C>A Copied from the Exome Variant Server ANKRD55_000048 53/13006 0/8600 53/4406
?/? c.1065A>G r.(=) p.(=) g.55407510T>C Copied from the Exome Variant Server ANKRD55_000046 1/13006 1/8600 0/4406
?/? c.1078G>A r.(?) p.(Ala360Thr) g.55407497C>T Copied from the Exome Variant Server ANKRD55_000044 1/13006 1/8600 0/4406
?/? c.1126T>C r.(?) p.(Ser376Pro) g.55407449A>G Copied from the Exome Variant Server ANKRD55_000042 77/13006 72/8600 5/4406
?/? c.1195G>A r.(?) p.(Asp399Asn) g.55407380C>T Copied from the Exome Variant Server ANKRD55_000040 2/13006 0/8600 2/4406
?/? c.1277G>A r.(?) p.(Arg426His) g.55407298C>T Copied from the Exome Variant Server ANKRD55_000038 1/13006 0/8600 1/4406
?/? c.1294A>G r.(?) p.(Ile432Val) g.55407281T>C Copied from the Exome Variant Server ANKRD55_000036 1/13006 0/8600 1/4406
?/? c.1302G>A r.(=) p.(=) g.55407273C>T Copied from the Exome Variant Server ANKRD55_000035 1/13006 1/8600 0/4406
?/? c.1307G>A r.(?) p.(Ser436Asn) g.55407268C>T Copied from the Exome Variant Server ANKRD55_000034 4/13006 4/8600 0/4406
?/? c.1358C>A r.(?) p.(Ala453Asp) g.55407217G>T Copied from the Exome Variant Server ANKRD55_000033 2/13006 2/8600 0/4406
?/? c.1367A>G r.(?) p.(His456Arg) g.55407208T>C Copied from the Exome Variant Server ANKRD55_000032 1/13006 0/8600 1/4406
?/? c.1370C>T r.(?) p.(Ala457Val) g.55407205G>A Copied from the Exome Variant Server ANKRD55_000031 1/13006 0/8600 1/4406
?/? c.1392T>C r.(=) p.(=) g.55407183A>G Copied from the Exome Variant Server ANKRD55_000028 1/13006 1/8600 0/4406
?/? c.1411C>G r.(?) p.(Gln471Glu) g.55407164G>C Copied from the Exome Variant Server ANKRD55_000026 1/13006 0/8600 1/4406
?/? c.1459C>T r.(?) p.(Gln487*) g.55407116G>A Copied from the Exome Variant Server ANKRD55_000024 1/13006 0/8600 1/4406
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