Unique variants in gene PFKFB4

Information The variants shown are described using the NM_004567.2 transcript reference sequence.

112 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.10C>T r.(?) p.(Pro4Ser) g.48594201G>A Copied from the Exome Variant Server PFKFB4_000112 2/13006 0/8600 2/4406
1 c.67C>A r.(=) p.(=) g.48594144G>T Copied from the Exome Variant Server PFKFB4_000111 1/13006 0/8600 1/4406
1 c.97+19G>C r.(=) p.(=) g.48594095C>G Copied from the Exome Variant Server PFKFB4_000110 1/13000 0/8598 1/4402
1 c.97+39C>A r.(=) p.(=) g.48594075G>T Copied from the Exome Variant Server PFKFB4_000109 1/12992 0/8596 1/4396
1 c.97+51G>C r.(=) p.(=) g.48594063C>G Copied from the Exome Variant Server PFKFB4_000108 2/12972 0/8582 2/4390
1 c.109A>C r.(?) p.(Asn37His) g.48587656T>G Copied from the Exome Variant Server PFKFB4_000107 1/13006 0/8600 1/4406
1 c.131T>C r.(?) p.(Met44Thr) g.48587634A>G Copied from the Exome Variant Server PFKFB4_000106 2/13006 2/8600 0/4406
1 c.132G>T r.(?) p.(Met44Ile) g.48587633C>A Copied from the Exome Variant Server PFKFB4_000105 2/13006 0/8600 2/4406
1 c.182G>C r.(?) p.(Arg61Pro) g.48587583C>G Copied from the Exome Variant Server PFKFB4_000104 1/13006 1/8600 0/4406
1 c.214+28G>A r.(=) p.(=) g.48587523C>T Copied from the Exome Variant Server PFKFB4_000103 56/13006 0/8600 56/4406
1 c.214+31G>A r.(=) p.(=) g.48587520C>T Copied from the Exome Variant Server PFKFB4_000102 1/13006 0/8600 1/4406
1 c.215-41G>A r.(=) p.(=) g.48587434C>T Copied from the Exome Variant Server PFKFB4_000101 1/13006 1/8600 0/4406
1 c.215-27G>C r.(=) p.(=) g.48587420C>G Copied from the Exome Variant Server PFKFB4_000100 3/13006 3/8600 0/4406
1 c.215-15T>G r.(=) p.(=) g.48587408A>C Copied from the Exome Variant Server PFKFB4_000099 986/13006 877/8600 109/4406
1 c.247G>C r.(?) p.(Val83Leu) g.48587361C>G Copied from the Exome Variant Server PFKFB4_000098 6/13006 0/8600 6/4406
1 c.276_277insT r.(?) p.(Leu93Serfs*5) g.48587331_48587332insA Copied from the Exome Variant Server PFKFB4_000097 2/12520 2/8254 0/4266
1 c.282C>T r.(=) p.(=) g.48587326G>A Copied from the Exome Variant Server PFKFB4_000096 4/13006 0/8600 4/4406
1 c.311+7A>G r.(=) p.(=) g.48587290T>C Copied from the Exome Variant Server PFKFB4_000095 1/13006 1/8600 0/4406
1 c.311+19T>A r.(=) p.(=) g.48587278A>T Copied from the Exome Variant Server PFKFB4_000094 2/13006 2/8600 0/4406
1 c.311+22G>T r.(=) p.(=) g.48587275C>A Copied from the Exome Variant Server PFKFB4_000093 1/13006 1/8600 0/4406
1 c.311+24G>A r.(=) p.(=) g.48587273C>T Copied from the Exome Variant Server PFKFB4_000092 1/13006 1/8600 0/4406
1 c.311+40G>A r.(=) p.(=) g.48587257C>T Copied from the Exome Variant Server PFKFB4_000091 1/13006 1/8600 0/4406
1 c.312-50C>T r.(=) p.(=) g.48581129G>A Copied from the Exome Variant Server PFKFB4_000090 6/12986 4/8588 2/4398
1 c.334C>T r.(?) p.(Arg112Cys) g.48581057G>A Copied from the Exome Variant Server PFKFB4_000089 1/13004 1/8600 0/4404
1 c.335G>A r.(?) p.(Arg112His) g.48581056C>T Copied from the Exome Variant Server PFKFB4_000088 2/13006 0/8600 2/4406
1 c.339C>T r.(=) p.(=) g.48581052G>A Copied from the Exome Variant Server PFKFB4_000087 1/13006 1/8600 0/4406
1 c.344G>A r.(?) p.(Arg115Gln) g.48581047C>T Copied from the Exome Variant Server PFKFB4_000085 1/13006 1/8600 0/4406
1 c.346C>T r.(?) p.(Arg116Trp) g.48581045G>A Copied from the Exome Variant Server PFKFB4_000083 2/13006 1/8600 1/4406
1 c.394A>G r.(?) p.(Asn132Asp) g.48577189T>C Copied from the Exome Variant Server PFKFB4_000081 1/13006 0/8600 1/4406
1 c.446G>C r.(?) p.(Gly149Ala) g.48577137C>G Copied from the Exome Variant Server PFKFB4_000079 1/13006 1/8600 0/4406
1 c.453+29C>T r.(=) p.(=) g.48577101G>A Copied from the Exome Variant Server PFKFB4_000077 1/13006 1/8600 0/4406
1 c.454-51A>G r.(=) p.(=) g.48576794T>C Copied from the Exome Variant Server PFKFB4_000075 460/13006 8/8600 452/4406
1 c.454-20C>T r.(=) p.(=) g.48576763G>A Copied from the Exome Variant Server PFKFB4_000074 1/13006 1/8600 0/4406
1 c.454-5C>T r.spl? p.? g.48576748G>A Copied from the Exome Variant Server PFKFB4_000071 1/13006 0/8600 1/4406
1 c.463G>A r.(?) p.(Val155Ile) g.48576734C>T Copied from the Exome Variant Server PFKFB4_000069 1/13006 0/8600 1/4406
1 c.503A>G r.(?) p.(Asn168Ser) g.48576694T>C Copied from the Exome Variant Server PFKFB4_000067 1/13006 1/8600 0/4406
1 c.508G>A r.(?) p.(Val170Met) g.48576689C>T Copied from the Exome Variant Server PFKFB4_000066 1/13006 1/8600 0/4406
1 c.511-50G>A r.(=) p.(=) g.48576102C>T Copied from the Exome Variant Server PFKFB4_000086 1/13006 1/8600 0/4406
1 c.511-45G>A r.(=) p.(=) g.48576097C>T Copied from the Exome Variant Server PFKFB4_000084 1/13006 0/8600 1/4406
1 c.511-34T>C r.(=) p.(=) g.48576086A>G Copied from the Exome Variant Server PFKFB4_000082 20/13006 0/8600 20/4406
1 c.532_533insTC r.(?) p.(Asp178Valfs*16) g.48576030_48576031insGA Copied from the Exome Variant Server PFKFB4_000080 1/12520 1/8254 0/4266
1 c.536A>G r.(?) p.(Tyr179Cys) g.48576027T>C Copied from the Exome Variant Server PFKFB4_000078 1/13006 1/8600 0/4406
1 c.542A>G r.(?) p.(Asn181Ser) g.48576021T>C Copied from the Exome Variant Server PFKFB4_000076 1/13006 0/8600 1/4406
1 c.563C>T r.(?) p.(Thr188Met) g.48576000G>A Copied from the Exome Variant Server PFKFB4_000073 1/13006 1/8600 0/4406
1 c.590G>A r.(?) p.(Cys197Tyr) g.48575973C>T Copied from the Exome Variant Server PFKFB4_000072 1/13006 1/8600 0/4406
1 c.593A>T r.(?) p.(Tyr198Phe) g.48575970T>A Copied from the Exome Variant Server PFKFB4_000070 2/13006 0/8600 2/4406
1 c.612G>A r.(=) p.(=) g.48575951C>T Copied from the Exome Variant Server PFKFB4_000068 2/13006 2/8600 0/4406
1 c.632+6T>A r.(=) p.(=) g.48575925A>T Copied from the Exome Variant Server PFKFB4_000065 1/13006 1/8600 0/4406
1 c.632+9G>A r.(=) p.(=) g.48575922C>T Copied from the Exome Variant Server PFKFB4_000064 1/13006 0/8600 1/4406
1 c.632+10G>A r.(=) p.(=) g.48575921C>T Copied from the Exome Variant Server PFKFB4_000063 1/13006 0/8600 1/4406
1 c.632+16G>A r.(=) p.(=) g.48575915C>T Copied from the Exome Variant Server PFKFB4_000062 7/13006 0/8600 7/4406
1 c.632+16_632+17insG r.(=) p.(=) g.48575914_48575915insC Copied from the Exome Variant Server PFKFB4_000061 3/12520 3/8254 0/4266
1 c.632+45G>A r.(=) p.(=) g.48575886C>T Copied from the Exome Variant Server PFKFB4_000060 1/13006 0/8600 1/4406
1 c.633-45C>T r.(=) p.(=) g.48573941G>A Copied from the Exome Variant Server PFKFB4_000059 1/13006 0/8600 1/4406
1 c.633-36C>T r.(=) p.(=) g.48573932G>A Copied from the Exome Variant Server PFKFB4_000058 1/13006 0/8600 1/4406
1 c.633-19C>A r.(=) p.(=) g.48573915G>T Copied from the Exome Variant Server PFKFB4_000057 6/13006 0/8600 6/4406
1 c.633-5G>C r.spl? p.? g.48573901C>G Copied from the Exome Variant Server PFKFB4_000056 15/13006 15/8600 0/4406
1 c.676G>A r.(?) p.(Val226Met) g.48573853C>T Copied from the Exome Variant Server PFKFB4_000055 1/13006 1/8600 0/4406
1 c.685C>T r.(?) p.(Arg229Cys) g.48573844G>A Copied from the Exome Variant Server PFKFB4_000054 2/13006 2/8600 0/4406
1 c.709C>T r.(?) p.(Arg237Cys) g.48573820G>A Copied from the Exome Variant Server PFKFB4_000053 1/13006 1/8600 0/4406
1 c.710G>A r.(?) p.(Arg237His) g.48573819C>T Copied from the Exome Variant Server PFKFB4_000052 1/13006 1/8600 0/4406
1 c.744C>G r.(=) p.(=) g.48573785G>C Copied from the Exome Variant Server PFKFB4_000051 1/13006 1/8600 0/4406
1 c.748C>G r.(?) p.(Arg250Gly) g.48573781G>C Copied from the Exome Variant Server PFKFB4_000050 1/13006 0/8600 1/4406
1 c.766C>T r.(?) p.(Arg256Trp) g.48573763G>A Copied from the Exome Variant Server PFKFB4_000049 1/13006 1/8600 0/4406
1 c.772G>A r.(?) p.(Gly258Arg) g.48573757C>T Copied from the Exome Variant Server PFKFB4_000048 2/13006 2/8600 0/4406
1 c.786C>A r.(=) p.(=) g.48573743G>T Copied from the Exome Variant Server PFKFB4_000047 1/13006 1/8600 0/4406
1 c.799C>T r.(?) p.(Arg267Trp) g.48573730G>A Copied from the Exome Variant Server PFKFB4_000046 1/13006 0/8600 1/4406
1 c.807C>T r.(=) p.(=) g.48573722G>A Copied from the Exome Variant Server PFKFB4_000045 1/13006 0/8600 1/4406
1 c.830G>A r.(?) p.(Arg277Gln) g.48573699C>T Copied from the Exome Variant Server PFKFB4_000044 2/13006 0/8600 2/4406
1 c.840+24C>T r.(=) p.(=) g.48573665G>A Copied from the Exome Variant Server PFKFB4_000043 1/13006 1/8600 0/4406
1 c.840+31G>A r.(=) p.(=) g.48573658C>T Copied from the Exome Variant Server PFKFB4_000042 1/13006 0/8600 1/4406
1 c.840+52G>A r.(=) p.(=) g.48573637C>T Copied from the Exome Variant Server PFKFB4_000041 1/5734 1/3982 0/1752
1 c.841-26C>G r.(=) p.(=) g.48573117G>C Copied from the Exome Variant Server PFKFB4_000040 1/13006 1/8600 0/4406
1 c.930G>A r.(=) p.(=) g.48573002C>T Copied from the Exome Variant Server PFKFB4_000039 1/13006 1/8600 0/4406
1 c.975C>T r.(=) p.(=) g.48572957G>A Copied from the Exome Variant Server PFKFB4_000038 2/13006 0/8600 2/4406
1 c.987+1G>A r.spl? p.? g.48572944C>T Copied from the Exome Variant Server PFKFB4_000037 1/13006 0/8600 1/4406
1 c.987+9C>T r.(=) p.(=) g.48572936G>A Copied from the Exome Variant Server PFKFB4_000036 227/13006 1/8600 226/4406
1 c.987+23T>C r.(=) p.(=) g.48572922A>G Copied from the Exome Variant Server PFKFB4_000035 1/13006 1/8600 0/4406
1 c.987+41C>T r.(=) p.(=) g.48572904G>A Copied from the Exome Variant Server PFKFB4_000034 2/13006 2/8600 0/4406
1 c.987+42G>A r.(=) p.(=) g.48572903C>T Copied from the Exome Variant Server PFKFB4_000032 4/13006 3/8600 1/4406
1 c.988-30G>A r.(=) p.(=) g.48563132C>T Copied from the Exome Variant Server PFKFB4_000030 2/13002 0/8598 2/4404
1 c.1011C>T r.(=) p.(=) g.48563079G>A Copied from the Exome Variant Server PFKFB4_000028 5/13006 1/8600 4/4406
1 c.1012G>A r.(?) p.(Glu338Lys) g.48563078C>T Copied from the Exome Variant Server PFKFB4_000026 1/13006 1/8600 0/4406
1 c.1045G>A r.(?) p.(Ala349Thr) g.48563045C>T Copied from the Exome Variant Server PFKFB4_000024 1/13006 1/8600 0/4406
1 c.1093-35A>T r.(=) p.(=) g.48561298T>A Copied from the Exome Variant Server PFKFB4_000022 1/13006 1/8600 0/4406
1 c.1093-7C>T r.(=) p.(=) g.48561270G>A Copied from the Exome Variant Server PFKFB4_000020 1/13006 1/8600 0/4406
1 c.1097A>G r.(?) p.(Tyr366Cys) g.48561259T>C Copied from the Exome Variant Server PFKFB4_000018 1/13006 0/8600 1/4406
1 c.1119G>A r.(=) p.(=) g.48561237C>T Copied from the Exome Variant Server PFKFB4_000033 2/13006 0/8600 2/4406
1 c.1146G>A r.(=) p.(=) g.48561210C>T Copied from the Exome Variant Server PFKFB4_000031 7/13006 0/8600 7/4406
1 c.1210G>A r.(?) p.(Asp404Asn) g.48561146C>T Copied from the Exome Variant Server PFKFB4_000029 1/13006 0/8600 1/4406
1 c.1223-32G>C r.(=) p.(=) g.48561064C>G Copied from the Exome Variant Server PFKFB4_000027 4/13006 4/8600 0/4406
1 c.1223-19T>C r.(=) p.(=) g.48561051A>G Copied from the Exome Variant Server PFKFB4_000025 1/13006 0/8600 1/4406
1 c.1223-14C>G r.(=) p.(=) g.48561046G>C Copied from the Exome Variant Server PFKFB4_000023 1/13006 1/8600 0/4406
1 c.1223-4A>G r.spl? p.? g.48561036T>C Copied from the Exome Variant Server PFKFB4_000021 2/13006 0/8600 2/4406
1 c.1233C>G r.(=) p.(=) g.48561022G>C Copied from the Exome Variant Server PFKFB4_000019 1/13006 1/8600 0/4406
1 c.1285+52T>C r.(=) p.(=) g.48560918A>G Copied from the Exome Variant Server PFKFB4_000017 1/10300 0/7164 1/3136
1 c.1286-31T>G r.(=) p.(=) g.48559514A>C Copied from the Exome Variant Server PFKFB4_000016 1/13006 0/8600 1/4406
1 c.1286-23G>C r.(=) p.(=) g.48559506C>G Copied from the Exome Variant Server PFKFB4_000015 3/13006 0/8600 3/4406
1 c.1286-14C>G r.(=) p.(=) g.48559497G>C Copied from the Exome Variant Server PFKFB4_000014 1/13006 1/8600 0/4406
1 c.1286-11C>A r.(=) p.(=) g.48559494G>T Copied from the Exome Variant Server PFKFB4_000013 1/13006 0/8600 1/4406
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