Full data view for gene PGK1

Information The variants shown are described using the NM_000291.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-52G>C r.(=) p.(=) g.77359786G>C Copied from the Exome Variant Server PGK1_000008 1/8123 1/5496 0/2627 - - - - - - -
?/? c.-44C>A r.(=) p.(=) g.77359794C>A Copied from the Exome Variant Server PGK1_000001 2/10558 0/6723 2/3835 - - - - - - -
?/? c.-21C>G r.(=) p.(=) g.77359817C>G Copied from the Exome Variant Server PGK1_000002 2/10558 2/6723 0/3835 - - - - - - -
?/? c.-9A>G r.(=) p.(=) g.77359829A>G Copied from the Exome Variant Server PGK1_000003 1/10558 1/6723 0/3835 - - - - - - -
?/? c.107A>C r.(?) p.(Asn36Thr) g.77365405A>C Copied from the Exome Variant Server PGK1_000004 1/10558 1/6723 0/3835 - - - - - - -
?/? c.116+8C>T r.(=) p.(=) g.77365422C>T Copied from the Exome Variant Server PGK1_000005 2/10558 2/6723 0/3835 - - - - - - -
?/? c.116+49C>T r.(=) p.(=) g.77365463C>T Copied from the Exome Variant Server PGK1_000006 44/10558 0/6723 44/3835 - - - - - - -
?/? c.117-5T>G r.spl? p.? g.77369236T>G Copied from the Exome Variant Server PGK1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.143A>G r.(?) p.(Lys48Arg) g.77369267A>G Copied from the Exome Variant Server PGK1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.171G>A r.(=) p.(=) g.77369295G>A Copied from the Exome Variant Server PGK1_000010 22/10563 0/6728 22/3835 - - - - - - -
?/? c.183G>A r.(?) p.(Met61Ile) g.77369307G>A Copied from the Exome Variant Server PGK1_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.212C>T r.(?) p.(Pro71Leu) g.77369336C>T Copied from the Exome Variant Server PGK1_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.217C>T r.(?) p.(Pro73Ser) g.77369341C>T Copied from the Exome Variant Server PGK1_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.230C>T r.(?) p.(Ser77Phe) g.77369354C>T Copied from the Exome Variant Server PGK1_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.242T>G r.(?) p.(Val81Gly) g.77369366T>G Copied from the Exome Variant Server PGK1_000015 1/10562 1/6727 0/3835 - - - - - - -
?/? c.248T>C r.(?) p.(Val83Ala) g.77369372T>C Copied from the Exome Variant Server PGK1_000016 1/10562 0/6727 1/3835 - - - - - - -
?/? c.272+7G>T r.(=) p.(=) g.77369403G>T Copied from the Exome Variant Server PGK1_000017 1/10562 1/6727 0/3835 - - - - - - -
?/? c.272+33G>T r.(=) p.(=) g.77369429G>T Copied from the Exome Variant Server PGK1_000018 1/10562 1/6727 0/3835 - - - - - - -
?/? c.273-34C>T r.(=) p.(=) g.77369479C>T Copied from the Exome Variant Server PGK1_000019 5/10560 4/6725 1/3835 - - - - - - -
?/? c.273-27A>G r.(=) p.(=) g.77369486A>G Copied from the Exome Variant Server PGK1_000020 58/10560 0/6725 58/3835 - - - - - - -
?/? c.352C>A r.(?) p.(Leu118Met) g.77369592C>A Copied from the Exome Variant Server PGK1_000021 1/10558 1/6723 0/3835 - - - - - - -
?/? c.356T>C r.(?) p.(Leu119Pro) g.77369596T>C Copied from the Exome Variant Server PGK1_000022 1/10558 1/6723 0/3835 - - - - - - -
?/? c.375T>A r.(?) p.(His125Gln) g.77369615T>A Copied from the Exome Variant Server PGK1_000023 1/10558 1/6723 0/3835 - - - - - - -
?/? c.390G>A r.(=) p.(=) g.77369630G>A Copied from the Exome Variant Server PGK1_000024 12/10558 0/6723 12/3835 - - - - - - -
?/? c.417+4G>A r.spl? p.? g.77369661G>A Copied from the Exome Variant Server PGK1_000025 1/10558 1/6723 0/3835 - - - - - - -
?/? c.418-42C>G r.(=) p.(=) g.77372767C>G Copied from the Exome Variant Server PGK1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.418-37G>T r.(=) p.(=) g.77372772G>T Copied from the Exome Variant Server PGK1_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.418-16T>C r.(=) p.(=) g.77372793T>C Copied from the Exome Variant Server PGK1_000028 1/10562 0/6727 1/3835 - - - - - - -
?/? c.441A>G r.(?) p.(Ile147Met) g.77372832A>G Copied from the Exome Variant Server PGK1_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.521+26C>T r.(=) p.(=) g.77372938C>T Copied from the Exome Variant Server PGK1_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.522-24C>T r.(=) p.(=) g.77373524C>T Copied from the Exome Variant Server PGK1_000031 2810/10558 1432/6723 1378/3835 - - - - - - -
?/? c.545C>T r.(?) p.(Pro182Leu) g.77373571C>T Copied from the Exome Variant Server PGK1_000032 1/10558 1/6723 0/3835 - - - - - - -
?/? c.565T>G r.(?) p.(Leu189Val) g.77373591T>G Copied from the Exome Variant Server PGK1_000033 1/10558 0/6723 1/3835 - - - - - - -
?/? c.641+43C>T r.(=) p.(=) g.77373710C>T Copied from the Exome Variant Server PGK1_000034 2/10555 0/6722 2/3833 - - - - - - -
?/? c.641+51A>G r.(=) p.(=) g.77373718A>G Copied from the Exome Variant Server PGK1_000035 42/10548 0/6717 42/3831 - - - - - - -
?/? c.642-39C>T r.(=) p.(=) g.77378293C>T Copied from the Exome Variant Server PGK1_000036 2/10563 0/6728 2/3835 - - - - - - -
?/? c.642-20A>C r.(=) p.(=) g.77378312A>C Copied from the Exome Variant Server PGK1_000037 2/10563 0/6728 2/3835 - - - - - - -
?/? c.642-4G>A r.spl? p.? g.77378328G>A Copied from the Exome Variant Server PGK1_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.653C>T r.(?) p.(Ala218Val) g.77378343C>T Copied from the Exome Variant Server PGK1_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.674A>G r.(?) p.(Asn225Ser) g.77378364A>G Copied from the Exome Variant Server PGK1_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.736A>G r.(?) p.(Lys246Glu) g.77378426A>G Copied from the Exome Variant Server PGK1_000041 3/10563 0/6728 3/3835 - - - - - - -
?/? c.756+40A>G r.(=) p.(=) g.77378486A>G Copied from the Exome Variant Server PGK1_000042 4/10563 4/6728 0/3835 - - - - - - -
?/? c.757-37A>G r.(=) p.(=) g.77378655A>G Copied from the Exome Variant Server PGK1_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.757-31T>C r.(=) p.(=) g.77378661T>C Copied from the Exome Variant Server PGK1_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.761G>C r.(?) p.(Gly254Ala) g.77378696G>C Copied from the Exome Variant Server PGK1_000045 2/10563 0/6728 2/3835 - - - - - - -
?/? c.819T>C r.(=) p.(=) g.77378754T>C Copied from the Exome Variant Server PGK1_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.832G>A r.(?) p.(Val278Met) g.77378767G>A Copied from the Exome Variant Server PGK1_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.909G>C r.(=) p.(=) g.77378844G>C Copied from the Exome Variant Server PGK1_000050 12/10563 0/6728 12/3835 - - - - - - -
?/? c.914C>G r.(?) p.(Ser305Cys) g.77378849C>G Copied from the Exome Variant Server PGK1_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.937-20_937-19insT r.(=) p.(=) g.77380351_77380352insT Copied from the Exome Variant Server PGK1_000054 32/10200 30/6479 2/3721 - - - - - - -
?/? c.937-8C>T r.(=) p.(=) g.77380363C>T Copied from the Exome Variant Server PGK1_000056 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1044T>C r.(=) p.(=) g.77380478T>C Copied from the Exome Variant Server PGK1_000046 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1048C>T r.(?) p.(Arg350Trp) g.77380482C>T Copied from the Exome Variant Server PGK1_000049 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1063C>T r.(?) p.(Leu355Phe) g.77380497C>T Copied from the Exome Variant Server PGK1_000051 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1096G>C r.(?) p.(Gly366Arg) g.77380530G>C Copied from the Exome Variant Server PGK1_000053 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1114+14T>G r.(=) p.(=) g.77380562T>G Copied from the Exome Variant Server PGK1_000055 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1192G>A r.(?) p.(Ala398Thr) g.77380901G>A Copied from the Exome Variant Server PGK1_000057 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1213+32G>A r.(=) p.(=) g.77380954G>A Copied from the Exome Variant Server PGK1_000058 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1214-10_1214-7del r.(=) p.(=) g.77381277_77381280del Copied from the Exome Variant Server PGK1_000059 1/10200 1/6479 0/3721 - - - - - - -
?/? c.*39G>C r.(=) p.(=) g.77381366G>C Copied from the Exome Variant Server PGK1_000060 4/10553 4/6718 0/3835 - - - - - - -
Legend