All transcript variants in gene ANKH

Information The variants shown are described using the NM_054027.4 transcript reference sequence.

124 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.-49G>A r.(=) p.(=) g.14871605C>T Copied from the Exome Variant Server ANKH_000124 2/12978 1/8592 1/4386
?/? c.-30T>A r.(=) p.(=) g.14871586A>T Copied from the Exome Variant Server ANKH_000123 3/12998 0/8598 3/4400
?/? c.-19T>A r.(=) p.(=) g.14871575A>T Copied from the Exome Variant Server ANKH_000122 3/13002 2/8598 1/4404
?/? c.-15C>T r.(=) p.(=) g.14871571G>A Copied from the Exome Variant Server ANKH_000121 1/13002 1/8598 0/4404
?/? c.-4G>A r.(=) p.(=) g.14871560C>T Copied from the Exome Variant Server ANKH_000120 704/13004 635/8600 69/4404
?/? c.-1T>C r.(=) p.(=) g.14871557A>G Copied from the Exome Variant Server ANKH_000119 1/13004 1/8600 0/4404
?/? c.12C>G r.(?) p.(Phe4Leu) g.14871545G>C Copied from the Exome Variant Server ANKH_000118 1/13002 1/8600 0/4402
?/? c.27C>T r.(=) p.(=) g.14871530G>A Copied from the Exome Variant Server ANKH_000117 1/13006 1/8600 0/4406
?/? c.34C>T r.(?) p.(Pro12Ser) g.14871523G>A Copied from the Exome Variant Server ANKH_000116 1/13006 0/8600 1/4406
?/? c.66C>T r.(=) p.(=) g.14871491G>A Copied from the Exome Variant Server ANKH_000115 1/13006 1/8600 0/4406
?/? c.96+10G>T r.(=) p.(=) g.14871451C>A Copied from the Exome Variant Server ANKH_000114 1/13004 1/8600 0/4404
?/? c.96+20C>G r.(=) p.(=) g.14871441G>C Copied from the Exome Variant Server ANKH_000113 1/12998 1/8598 0/4400
?/? c.96+29G>A r.(=) p.(=) g.14871432C>T Copied from the Exome Variant Server ANKH_000112 1/12996 0/8598 1/4398
?/? c.96+43G>A r.(=) p.(=) g.14871418C>T Copied from the Exome Variant Server ANKH_000111 3/12992 3/8598 0/4394
?/? c.96+46C>A r.(=) p.(=) g.14871415G>T Copied from the Exome Variant Server ANKH_000110 1/12990 1/8596 0/4394
?/? c.102G>A r.(=) p.(=) g.14769295C>T Copied from the Exome Variant Server ANKH_000109 29/13006 1/8600 28/4406
?/? c.139G>A r.(?) p.(Glu47Lys) g.14769258C>T Copied from the Exome Variant Server ANKH_000108 1/13006 0/8600 1/4406
?/? c.150C>T r.(=) p.(=) g.14769247G>A Copied from the Exome Variant Server ANKH_000107 1/13006 1/8600 0/4406
?/? c.255A>G r.(=) p.(=) g.14769142T>C Copied from the Exome Variant Server ANKH_000106 1/13006 0/8600 1/4406
?/? c.258C>T r.(=) p.(=) g.14769139G>A Copied from the Exome Variant Server ANKH_000105 140/13006 0/8600 140/4406
?/? c.294C>T r.(=) p.(=) g.14769103G>A Copied from the Exome Variant Server ANKH_000104 1936/13006 1672/8600 264/4406
?/? c.313+9G>A r.(=) p.(=) g.14769075C>T Copied from the Exome Variant Server ANKH_000103 1096/13006 695/8600 401/4406
?/? c.313+11C>T r.(=) p.(=) g.14769073G>A Copied from the Exome Variant Server ANKH_000102 1/13006 0/8600 1/4406
?/? c.313+15_313+16insCCCGCCC r.(=) p.(=) g.14769068_14769069insGGGCGGG Copied from the Exome Variant Server ANKH_000101 975/12504 587/8244 388/4260
?/? c.313+25G>A r.(=) p.(=) g.14769059C>T Copied from the Exome Variant Server ANKH_000100 3/13006 3/8600 0/4406
?/? c.313+26A>C r.(=) p.(=) g.14769058T>G Copied from the Exome Variant Server ANKH_000099 1/13006 1/8600 0/4406
?/? c.314-13C>T r.(=) p.(=) g.14758720G>A Copied from the Exome Variant Server ANKH_000098 4/13006 3/8600 1/4406
?/? c.314-12G>A r.(=) p.(=) g.14758719C>T Copied from the Exome Variant Server ANKH_000097 1/13006 1/8600 0/4406
?/? c.369G>A r.(=) p.(=) g.14758652C>T Copied from the Exome Variant Server ANKH_000096 3/13006 0/8600 3/4406
?/? c.376A>G r.(?) p.(Ser126Gly) g.14758645T>C Copied from the Exome Variant Server ANKH_000095 1/13006 1/8600 0/4406
?/? c.405C>T r.(=) p.(=) g.14758616G>A Copied from the Exome Variant Server ANKH_000094 135/13006 2/8600 133/4406
?/? c.411C>G r.(=) p.(=) g.14758610G>C Copied from the Exome Variant Server ANKH_000093 1/13006 1/8600 0/4406
?/? c.432+13G>A r.(=) p.(=) g.14758576C>T Copied from the Exome Variant Server ANKH_000092 85/13006 0/8600 85/4406
?/? c.465C>T r.(=) p.(=) g.14756021G>A Copied from the Exome Variant Server ANKH_000091 1/13006 0/8600 1/4406
?/? c.516+31C>T r.(=) p.(=) g.14755939G>A Copied from the Exome Variant Server ANKH_000090 1/13006 0/8600 1/4406
?/? c.516+51G>A r.(=) p.(=) g.14755919C>T Copied from the Exome Variant Server ANKH_000089 90/13006 83/8600 7/4406
?/? c.517-51G>A r.(=) p.(=) g.14751399C>T Copied from the Exome Variant Server ANKH_000088 7622/13006 4429/8600 3193/4406
?/? c.517-48G>A r.(=) p.(=) g.14751396C>T Copied from the Exome Variant Server ANKH_000087 1/13006 1/8600 0/4406
?/? c.517-42C>T r.(=) p.(=) g.14751390G>A Copied from the Exome Variant Server ANKH_000086 7/13006 0/8600 7/4406
?/? c.517-41G>A r.(=) p.(=) g.14751389C>T Copied from the Exome Variant Server ANKH_000085 2/13006 0/8600 2/4406
?/? c.517-18C>T r.(=) p.(=) g.14751366G>A Copied from the Exome Variant Server ANKH_000084 1/13006 1/8600 0/4406
?/? c.560G>A r.(?) p.(Arg187Gln) g.14751305C>T Copied from the Exome Variant Server ANKH_000083 73/13006 70/8600 3/4406
?/? c.579G>A r.(=) p.(=) g.14751286C>T Copied from the Exome Variant Server ANKH_000082 3/13006 2/8600 1/4406
?/? c.600C>T r.(=) p.(=) g.14751265G>A Copied from the Exome Variant Server ANKH_000081 2/13006 1/8600 1/4406
?/? c.611G>A r.(?) p.(Arg204His) g.14751254C>T Copied from the Exome Variant Server ANKH_000080 1/13006 1/8600 0/4406
?/? c.631G>A r.(?) p.(Gly211Ser) g.14751234C>T Copied from the Exome Variant Server ANKH_000079 1/13006 0/8600 1/4406
?/? c.644A>G r.(?) p.(Asn215Ser) g.14751221T>C Copied from the Exome Variant Server ANKH_000078 1/13006 1/8600 0/4406
?/? c.658A>G r.(?) p.(Ile220Val) g.14751207T>C Copied from the Exome Variant Server ANKH_000077 1/13006 0/8600 1/4406
?/? c.668G>T r.(?) p.(Arg223Ile) g.14751197C>A Copied from the Exome Variant Server ANKH_000076 1/13006 0/8600 1/4406
?/? c.674G>T r.(?) p.(Gly225Val) g.14751191C>A Copied from the Exome Variant Server ANKH_000075 1/13006 1/8600 0/4406
?/? c.677C>T r.(?) p.(Pro226Leu) g.14751188G>A Copied from the Exome Variant Server ANKH_000074 2/13006 2/8600 0/4406
?/? c.681G>A r.(=) p.(=) g.14751184C>T Copied from the Exome Variant Server ANKH_000073 16/13006 12/8600 4/4406
?/? c.682C>T r.(=) p.(=) g.14751183G>A Copied from the Exome Variant Server ANKH_000072 1/13006 0/8600 1/4406
?/? c.687+4C>T r.spl? p.? g.14751174G>A Copied from the Exome Variant Server ANKH_000071 1/13006 1/8600 0/4406
?/? c.687+9A>C r.(=) p.(=) g.14751169T>G Copied from the Exome Variant Server ANKH_000070 1/13006 1/8600 0/4406
?/? c.688-39T>C r.(=) p.(=) g.14749454A>G Copied from the Exome Variant Server ANKH_000069 1/13006 1/8600 0/4406
?/? c.688-14G>A r.(=) p.(=) g.14749429C>T Copied from the Exome Variant Server ANKH_000068 12/13006 3/8600 9/4406
?/? c.823-43C>A r.(=) p.(=) g.14746114G>T Copied from the Exome Variant Server ANKH_000067 1/13006 1/8600 0/4406
?/? c.823-26A>G r.(=) p.(=) g.14746097T>C Copied from the Exome Variant Server ANKH_000066 1/13006 0/8600 1/4406
?/? c.823-24C>G r.(=) p.(=) g.14746095G>C Copied from the Exome Variant Server ANKH_000065 1/13006 1/8600 0/4406
?/? c.846A>G r.(=) p.(=) g.14746048T>C Copied from the Exome Variant Server ANKH_000064 2/13006 0/8600 2/4406
?/? c.882G>A r.(=) p.(=) g.14746012C>T Copied from the Exome Variant Server ANKH_000063 3/13006 0/8600 3/4406
?/? c.886A>G r.(?) p.(Ile296Val) g.14746008T>C Copied from the Exome Variant Server ANKH_000062 1/13006 1/8600 0/4406
?/? c.915+5G>C r.spl? p.? g.14745974C>G Copied from the Exome Variant Server ANKH_000061 1/13006 1/8600 0/4406
?/? c.915+14C>T r.(=) p.(=) g.14745965G>A Copied from the Exome Variant Server ANKH_000060 5/13006 4/8600 1/4406
?/? c.915+21G>A r.(=) p.(=) g.14745958C>T Copied from the Exome Variant Server ANKH_000059 2/13006 0/8600 2/4406
?/? c.945G>A r.(=) p.(=) g.14742002C>T Copied from the Exome Variant Server ANKH_000058 1/13006 1/8600 0/4406
?/? c.958A>G r.(?) p.(Thr320Ala) g.14741989T>C Copied from the Exome Variant Server ANKH_000057 1/13006 1/8600 0/4406
?/? c.963A>G r.(=) p.(=) g.14741984T>C Copied from the Exome Variant Server ANKH_000056 758/13006 385/8600 373/4406
?/? c.969C>T r.(=) p.(=) g.14741978G>A Copied from the Exome Variant Server ANKH_000055 1/13006 1/8600 0/4406
?/? c.987C>T r.(=) p.(=) g.14741960G>A Copied from the Exome Variant Server ANKH_000054 27/13006 0/8600 27/4406
?/? c.1000C>G r.(?) p.(Leu334Val) g.14741947G>C Copied from the Exome Variant Server ANKH_000053 3/13006 3/8600 0/4406
?/? c.1011+14C>A r.(=) p.(=) g.14741922G>T Copied from the Exome Variant Server ANKH_000052 1/13006 1/8600 0/4406
?/? c.1011+15T>G r.(=) p.(=) g.14741921A>C Copied from the Exome Variant Server ANKH_000051 2824/13006 1619/8600 1205/4406
?/? c.1011+34T>C r.(=) p.(=) g.14741902A>G Copied from the Exome Variant Server ANKH_000050 2/13006 0/8600 2/4406
?/? c.1012-49C>T r.(=) p.(=) g.14716993G>A Copied from the Exome Variant Server ANKH_000049 1/13006 1/8600 0/4406
?/? c.1012-40_1012-39del r.(=) p.(=) g.14716983_14716984del Copied from the Exome Variant Server ANKH_000048 1/12518 0/8254 1/4264
?/? c.1012-23C>G r.(=) p.(=) g.14716967G>C Copied from the Exome Variant Server ANKH_000047 31/13006 0/8600 31/4406
?/? c.1012-23_1012-22del r.(=) p.(=) g.14716966_14716967del Copied from the Exome Variant Server ANKH_000046 1/12518 0/8254 1/4264
?/? c.1012-22T>A r.(=) p.(=) g.14716966A>T Copied from the Exome Variant Server ANKH_000045 1/13006 0/8600 1/4406
?/? c.1012-14G>A r.(=) p.(=) g.14716958C>T Copied from the Exome Variant Server ANKH_000044 2/13006 2/8600 0/4406
?/? c.1021G>A r.(?) p.(Val341Met) g.14716935C>T Copied from the Exome Variant Server ANKH_000043 9/13006 8/8600 1/4406
?/? c.1031G>A r.(?) p.(Trp344*) g.14716925C>T Copied from the Exome Variant Server ANKH_000042 1/13006 1/8600 0/4406
?/? c.1040A>G r.(?) p.(Asn347Ser) g.14716916T>C Copied from the Exome Variant Server ANKH_000041 1/13006 0/8600 1/4406
?/? c.1042G>A r.(?) p.(Val348Met) g.14716914C>T Copied from the Exome Variant Server ANKH_000040 2/13006 2/8600 0/4406
?/? c.1061T>C r.(?) p.(Ile354Thr) g.14716895A>G Copied from the Exome Variant Server ANKH_000039 1/13006 1/8600 0/4406
?/? c.1085C>A r.(?) p.(Ala362Asp) g.14716871G>T Copied from the Exome Variant Server ANKH_000038 1/13006 0/8600 1/4406
?/? c.1086C>T r.(=) p.(=) g.14716870G>A Copied from the Exome Variant Server ANKH_000037 1/13006 0/8600 1/4406
?/? c.1133C>T r.(?) p.(Pro378Leu) g.14716823G>A Copied from the Exome Variant Server ANKH_000036 1/13006 1/8600 0/4406
?/? c.1141+5A>G r.spl? p.? g.14716810T>C Copied from the Exome Variant Server ANKH_000035 7/13006 0/8600 7/4406
?/? c.1142-47G>A r.(=) p.(=) g.14713823C>T Copied from the Exome Variant Server ANKH_000034 1/13006 0/8600 1/4406
?/? c.1142-32A>G r.(=) p.(=) g.14713808T>C Copied from the Exome Variant Server ANKH_000033 12/13006 0/8600 12/4406
?/? c.1142-30G>A r.(=) p.(=) g.14713806C>T Copied from the Exome Variant Server ANKH_000032 1/13006 0/8600 1/4406
?/? c.1164C>T r.(=) p.(=) g.14713754G>A Copied from the Exome Variant Server ANKH_000031 2/13006 0/8600 2/4406
?/? c.1167G>C r.(=) p.(=) g.14713751C>G Copied from the Exome Variant Server ANKH_000030 1/13006 0/8600 1/4406
?/? c.1190C>T r.(?) p.(Thr397Ile) g.14713728G>A Copied from the Exome Variant Server ANKH_000029 1/13006 0/8600 1/4406
?/? c.1227C>T r.(=) p.(=) g.14713691G>A Copied from the Exome Variant Server ANKH_000028 1/13006 0/8600 1/4406
?/? c.1237G>A r.(?) p.(Ala413Thr) g.14713681C>T Copied from the Exome Variant Server ANKH_000027 33/13006 32/8600 1/4406
?/? c.1265+6T>C r.(=) p.(=) g.14713647A>G Copied from the Exome Variant Server ANKH_000026 224/13006 0/8600 224/4406
?/? c.1265+45C>T r.(=) p.(=) g.14713608G>A Copied from the Exome Variant Server ANKH_000025 1/13006 1/8600 0/4406
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