Unique variants in gene PFKFB1

Information The variants shown are described using the NM_002625.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-24A>G r.(=) p.(=) g.55020464T>C Copied from the Exome Variant Server PFKFB1_000084 2/10558 1/6723 1/3835
1 c.-19A>C r.(=) p.(=) g.55020459T>G Copied from the Exome Variant Server PFKFB1_000083 1/10560 0/6725 1/3835
1 c.-11C>T r.(=) p.(=) g.55020451G>A Copied from the Exome Variant Server PFKFB1_000082 1/10563 0/6728 1/3835
1 c.48C>T r.(=) p.(=) g.55020393G>A Copied from the Exome Variant Server PFKFB1_000081 7/10562 0/6727 7/3835
1 c.67G>A r.(?) p.(Gly23Ser) g.55020374C>T Copied from the Exome Variant Server PFKFB1_000080 2/10562 0/6727 2/3835
1 c.85C>T r.(?) p.(Arg29Trp) g.55020356G>A Copied from the Exome Variant Server PFKFB1_000079 1/10562 1/6727 0/3835
1 c.86G>A r.(?) p.(Arg29Gln) g.55020355C>T Copied from the Exome Variant Server PFKFB1_000078 1/10562 0/6727 1/3835
1 c.97+19C>T r.(=) p.(=) g.55020325G>A Copied from the Exome Variant Server PFKFB1_000077 1/10559 1/6726 0/3833
1 c.119A>G r.(?) p.(Asn40Ser) g.54989794T>C Copied from the Exome Variant Server PFKFB1_000076 1/10563 0/6728 1/3835
1 c.122C>T r.(?) p.(Ser41Phe) g.54989791G>A Copied from the Exome Variant Server PFKFB1_000075 1/10563 1/6728 0/3835
1 c.174C>T r.(=) p.(=) g.54989739G>A Copied from the Exome Variant Server PFKFB1_000074 1/10563 0/6728 1/3835
1 c.190C>T r.(?) p.(Arg64*) g.54989723G>A Copied from the Exome Variant Server PFKFB1_000073 1/10563 1/6728 0/3835
1 c.223+19T>A r.(=) p.(=) g.54989671A>T Copied from the Exome Variant Server PFKFB1_000072 1/10563 0/6728 1/3835
1 c.223+29A>G r.(=) p.(=) g.54989661T>C Copied from the Exome Variant Server PFKFB1_000071 1/10563 1/6728 0/3835
1 c.224-41G>A r.(=) p.(=) g.54987391C>T Copied from the Exome Variant Server PFKFB1_000070 1/10563 0/6728 1/3835
1 c.224-26T>C r.(=) p.(=) g.54987376A>G Copied from the Exome Variant Server PFKFB1_000069 1/10563 0/6728 1/3835
1 c.224-18G>A r.(=) p.(=) g.54987368C>T Copied from the Exome Variant Server PFKFB1_000068 4/10563 0/6728 4/3835
1 c.247C>T r.(?) p.(Arg83*) g.54987327G>A Copied from the Exome Variant Server PFKFB1_000067 2/10563 1/6728 1/3835
1 c.252G>A r.(=) p.(=) g.54987322C>T Copied from the Exome Variant Server PFKFB1_000066 54/10563 50/6728 4/3835
1 c.272A>G r.(?) p.(Tyr91Cys) g.54987302T>C Copied from the Exome Variant Server PFKFB1_000065 1/10563 0/6728 1/3835
1 c.293A>T r.(?) p.(Asn98Ile) g.54987281T>A Copied from the Exome Variant Server PFKFB1_000064 1/10563 1/6728 0/3835
1 c.324C>T r.(=) p.(=) g.54986320G>A Copied from the Exome Variant Server PFKFB1_000063 1/10563 1/6728 0/3835
1 c.353A>G r.(?) p.(Asn118Ser) g.54986291T>C Copied from the Exome Variant Server PFKFB1_000062 4/10563 2/6728 2/3835
1 c.383C>T r.(?) p.(Ala128Val) g.54986261G>A Copied from the Exome Variant Server PFKFB1_000061 2/10563 1/6728 1/3835
1 c.384+3A>C r.spl? p.? g.54986257T>G Copied from the Exome Variant Server PFKFB1_000060 1/10563 0/6728 1/3835
1 c.384+9A>G r.(=) p.(=) g.54986251T>C Copied from the Exome Variant Server PFKFB1_000059 8/10563 0/6728 8/3835
1 c.441A>G r.(=) p.(=) g.54985302T>C Copied from the Exome Variant Server PFKFB1_000058 18/10563 0/6728 18/3835
1 c.449A>G r.(?) p.(His150Arg) g.54985294T>C Copied from the Exome Variant Server PFKFB1_000057 15/10563 0/6728 15/3835
1 c.459+17A>G r.(=) p.(=) g.54985267T>C Copied from the Exome Variant Server PFKFB1_000056 1/10563 0/6728 1/3835
1 c.459+34A>G r.(=) p.(=) g.54985250T>C Copied from the Exome Variant Server PFKFB1_000055 7/10563 2/6728 5/3835
1 c.460-47C>T r.(=) p.(=) g.54984842G>A Copied from the Exome Variant Server PFKFB1_000054 4/10563 4/6728 0/3835
1 c.516+6G>A r.(=) p.(=) g.54984733C>T Copied from the Exome Variant Server PFKFB1_000053 1/10563 1/6728 0/3835
1 c.517-12C>T r.(=) p.(=) g.54982719G>A Copied from the Exome Variant Server PFKFB1_000052 2/10563 2/6728 0/3835
1 c.532A>G r.(?) p.(Ser178Gly) g.54982692T>C Copied from the Exome Variant Server PFKFB1_000051 1/10563 1/6728 0/3835
1 c.564G>T r.(?) p.(Lys188Asn) g.54982660C>A Copied from the Exome Variant Server PFKFB1_000049 2/10563 2/6728 0/3835
1 c.638+33A>T r.(=) p.(=) g.54982553T>A Copied from the Exome Variant Server PFKFB1_000047 1/10563 0/6728 1/3835
1 c.638+38T>C r.(=) p.(=) g.54982548A>G Copied from the Exome Variant Server PFKFB1_000045 1/10561 1/6728 0/3833
1 c.639-43T>C r.(=) p.(=) g.54978588A>G Copied from the Exome Variant Server PFKFB1_000043 9/10563 9/6728 0/3835
1 c.639-38C>A r.(=) p.(=) g.54978583G>T Copied from the Exome Variant Server PFKFB1_000041 2/10563 2/6728 0/3835
1 c.639-20C>T r.(=) p.(=) g.54978565G>A Copied from the Exome Variant Server PFKFB1_000050 18/10563 0/6728 18/3835
1 c.639-12G>A r.(=) p.(=) g.54978557C>T Copied from the Exome Variant Server PFKFB1_000048 1/10563 0/6728 1/3835
1 c.691C>T r.(?) p.(Arg231*) g.54978493G>A Copied from the Exome Variant Server PFKFB1_000046 1/10563 0/6728 1/3835
1 c.735G>A r.(?) p.(Met245Ile) g.54978449C>T Copied from the Exome Variant Server PFKFB1_000044 1/10563 1/6728 0/3835
1 c.759C>T r.(=) p.(=) g.54978425G>A Copied from the Exome Variant Server PFKFB1_000042 1/10563 1/6728 0/3835
1 c.761T>C r.(?) p.(Ile254Thr) g.54978423A>G Copied from the Exome Variant Server PFKFB1_000040 4/10563 3/6728 1/3835
1 c.780C>T r.(=) p.(=) g.54978404G>A Copied from the Exome Variant Server PFKFB1_000039 15/10563 1/6728 14/3835
1 c.806G>A r.(?) p.(Arg269His) g.54978378C>T Copied from the Exome Variant Server PFKFB1_000038 1/10563 1/6728 0/3835
1 c.810C>T r.(=) p.(=) g.54978374G>A Copied from the Exome Variant Server PFKFB1_000037 1/10563 0/6728 1/3835
1 c.811G>A r.(?) p.(Gly271Arg) g.54978373C>T Copied from the Exome Variant Server PFKFB1_000036 1/10563 1/6728 0/3835
1 c.835C>T r.(?) p.(Arg279Cys) g.54978349G>A Copied from the Exome Variant Server PFKFB1_000035 4/10559 4/6726 0/3833
1 c.838G>A r.(?) p.(Gly280Ser) g.54978346C>T Copied from the Exome Variant Server PFKFB1_000034 2/10559 1/6726 1/3833
1 c.840C>T r.(=) p.(=) g.54978344G>A Copied from the Exome Variant Server PFKFB1_000033 1/10559 1/6726 0/3833
1 c.992C>T r.(?) p.(Ala331Val) g.54975509G>A Copied from the Exome Variant Server PFKFB1_000032 1/10563 1/6728 0/3835
1 c.993+18A>G r.(=) p.(=) g.54975490T>C Copied from the Exome Variant Server PFKFB1_000031 1/10563 1/6728 0/3835
1 c.993+37T>A r.(=) p.(=) g.54975471A>T Copied from the Exome Variant Server PFKFB1_000030 4/10563 0/6728 4/3835
1 c.994-23C>T r.(=) p.(=) g.54971999G>A Copied from the Exome Variant Server PFKFB1_000029 8/10559 0/6726 8/3833
1 c.994-22G>A r.(=) p.(=) g.54971998C>T Copied from the Exome Variant Server PFKFB1_000028 2/10559 1/6726 1/3833
1 c.1032A>G r.(=) p.(=) g.54971938T>C Copied from the Exome Variant Server PFKFB1_000027 1/10563 1/6728 0/3835
1 c.1049T>A r.(?) p.(Phe350Tyr) g.54971921A>T Copied from the Exome Variant Server PFKFB1_000026 1/10563 1/6728 0/3835
1 c.1076G>A r.(?) p.(Arg359His) g.54971894C>T Copied from the Exome Variant Server PFKFB1_000025 1/10563 1/6728 0/3835
1 c.1098+10G>A r.(=) p.(=) g.54971862C>T Copied from the Exome Variant Server PFKFB1_000024 1/10563 0/6728 1/3835
1 c.1098+14G>A r.(=) p.(=) g.54971858C>T Copied from the Exome Variant Server PFKFB1_000023 1/10563 0/6728 1/3835
1 c.1099-13C>G r.(=) p.(=) g.54964170G>C Copied from the Exome Variant Server PFKFB1_000022 1/10563 1/6728 0/3835
1 c.1099-13_1099-10del r.(=) p.(=) g.54964167_54964170del Copied from the Exome Variant Server PFKFB1_000021 1/10205 1/6484 0/3721
1 c.1099-8A>T r.(=) p.(=) g.54964165T>A Copied from the Exome Variant Server PFKFB1_000020 3/10563 2/6728 1/3835
1 c.1099-6G>A r.(=) p.(=) g.54964163C>T Copied from the Exome Variant Server PFKFB1_000019 3/10563 0/6728 3/3835
1 c.1121G>A r.(?) p.(Arg374His) g.54964135C>T Copied from the Exome Variant Server PFKFB1_000018 1/10563 1/6728 0/3835
1 c.1144C>G r.(?) p.(Leu382Val) g.54964112G>C Copied from the Exome Variant Server PFKFB1_000017 1/10563 1/6728 0/3835
1 c.1150C>T r.(?) p.(Arg384*) g.54964106G>A Copied from the Exome Variant Server PFKFB1_000016 2/10563 2/6728 0/3835
1 c.1165C>T r.(=) p.(=) g.54964091G>A Copied from the Exome Variant Server PFKFB1_000015 1/10563 1/6728 0/3835
1 c.1192C>T r.(?) p.(Arg398Trp) g.54964064G>A Copied from the Exome Variant Server PFKFB1_000014 3/10563 3/6728 0/3835
1 c.1193G>A r.(?) p.(Arg398Gln) g.54964063C>T Copied from the Exome Variant Server PFKFB1_000013 6/10563 5/6728 1/3835
1 c.1209T>A r.(?) p.(Tyr403*) g.54964047A>T Copied from the Exome Variant Server PFKFB1_000012 2/10563 0/6728 2/3835
1 c.1214T>C r.(?) p.(Leu405Pro) g.54964042A>G Copied from the Exome Variant Server PFKFB1_000011 5/10563 4/6728 1/3835
1 c.1223G>A r.(?) p.(Ser408Asn) g.54964033C>T Copied from the Exome Variant Server PFKFB1_000010 5/10563 5/6728 0/3835
1 c.1228+15T>C r.(=) p.(=) g.54964013A>G Copied from the Exome Variant Server PFKFB1_000009 1/10563 1/6728 0/3835
1 c.1228+24G>A r.(=) p.(=) g.54964004C>T Copied from the Exome Variant Server PFKFB1_000008 1/10563 1/6728 0/3835
1 c.1229-3T>C r.spl? p.? g.54961445A>G Copied from the Exome Variant Server PFKFB1_000007 1/10563 1/6728 0/3835
1 c.1320T>C r.(=) p.(=) g.54960290A>G Copied from the Exome Variant Server PFKFB1_000006 1/10563 0/6728 1/3835
1 c.1347G>A r.(=) p.(=) g.54960263C>T Copied from the Exome Variant Server PFKFB1_000005 1/10563 1/6728 0/3835
1 c.1356+11G>A r.(=) p.(=) g.54960243C>T Copied from the Exome Variant Server PFKFB1_000004 1/10563 1/6728 0/3835
1 c.1413C>T r.(=) p.(=) g.54959839G>A Copied from the Exome Variant Server PFKFB1_000003 1/10563 1/6728 0/3835
1 c.*3C>G r.(=) p.(=) g.54959833G>C Copied from the Exome Variant Server PFKFB1_000002 42/10563 0/6728 42/3835
1 c.*18A>G r.(=) p.(=) g.54959818T>C Copied from the Exome Variant Server PFKFB1_000001 2/10563 0/6728 2/3835
Legend