Full data view for gene PHKA1

Information The variants shown are described using the NM_001122670.1 transcript reference sequence.

149 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.78+20_78+21del r.(=) p.(=) g.71933630_71933631del Copied from the Exome Variant Server PHKA1_000141 48/10205 34/6484 14/3721 - - - - - - -
?/? c.79-25T>G r.(=) p.(=) g.71932804A>C Copied from the Exome Variant Server PHKA1_000139 1/10563 1/6728 0/3835 - - - - - - -
?/? c.85G>A r.(?) p.(Val29Met) g.71932773C>T Copied from the Exome Variant Server PHKA1_000137 1/10563 1/6728 0/3835 - - - - - - -
?/? c.126T>C r.(=) p.(=) g.71932732A>G Copied from the Exome Variant Server PHKA1_000135 1/10563 0/6728 1/3835 - - - - - - -
?/? c.199C>T r.(?) p.(Arg67Trp) g.71932659G>A Copied from the Exome Variant Server PHKA1_000149 1/10560 0/6725 1/3835 - - - - - - -
?/? c.237+16A>G r.(=) p.(=) g.71932605T>C Copied from the Exome Variant Server PHKA1_000148 1/10563 0/6728 1/3835 - - - - - - -
?/? c.285+31T>C r.(=) p.(=) g.71925016A>G Copied from the Exome Variant Server PHKA1_000147 2/10563 0/6728 2/3835 - - - - - - -
?/? c.286-47G>A r.(=) p.(=) g.71915773C>T Copied from the Exome Variant Server PHKA1_000146 38/10563 36/6728 2/3835 - - - - - - -
?/? c.322A>G r.(?) p.(Thr108Ala) g.71915690T>C Copied from the Exome Variant Server PHKA1_000145 1/10563 1/6728 0/3835 - - - - - - -
?/? c.429C>T r.(=) p.(=) g.71915583G>A Copied from the Exome Variant Server PHKA1_000144 348/10563 323/6728 25/3835 - - - - - - -
?/? c.455-37T>A r.(=) p.(=) g.71904467A>T Copied from the Exome Variant Server PHKA1_000143 1/10559 0/6726 1/3833 - - - - - - -
?/? c.461A>T r.(?) p.(His154Leu) g.71904424T>A Copied from the Exome Variant Server PHKA1_000142 1/10562 0/6728 1/3834 - - - - - - -
?/? c.492C>T r.(=) p.(=) g.71904393G>A Copied from the Exome Variant Server PHKA1_000140 53/10558 0/6723 53/3835 - - - - - - -
?/? c.536C>T r.(?) p.(Ala179Val) g.71904349G>A Copied from the Exome Variant Server PHKA1_000138 2/10563 2/6728 0/3835 - - - - - - -
?/? c.538-42T>C r.(=) p.(=) g.71896042A>G Copied from the Exome Variant Server PHKA1_000136 1/10563 1/6728 0/3835 - - - - - - -
?/? c.538-36T>C r.(=) p.(=) g.71896036A>G Copied from the Exome Variant Server PHKA1_000134 1/10563 0/6728 1/3835 - - - - - - -
?/? c.538-25T>C r.(=) p.(=) g.71896025A>G Copied from the Exome Variant Server PHKA1_000133 25/10563 9/6728 16/3835 - - - - - - -
?/? c.618+46T>C r.(=) p.(=) g.71895874A>G Copied from the Exome Variant Server PHKA1_000132 2/10563 1/6728 1/3835 - - - - - - -
?/? c.619-48A>G r.(=) p.(=) g.71887371T>C Copied from the Exome Variant Server PHKA1_000131 1/10563 0/6728 1/3835 - - - - - - -
?/? c.619-35G>A r.(=) p.(=) g.71887358C>T Copied from the Exome Variant Server PHKA1_000130 1/10563 0/6728 1/3835 - - - - - - -
?/? c.640G>A r.(?) p.(Glu214Lys) g.71887302C>T Copied from the Exome Variant Server PHKA1_000129 1/10563 0/6728 1/3835 - - - - - - -
?/? c.717+9T>C r.(=) p.(=) g.71887216A>G Copied from the Exome Variant Server PHKA1_000128 1/10563 0/6728 1/3835 - - - - - - -
?/? c.743G>A r.(?) p.(Arg248His) g.71886122C>T Copied from the Exome Variant Server PHKA1_000127 2/10563 2/6728 0/3835 - - - - - - -
?/? c.864+11A>G r.(=) p.(=) g.71885990T>C Copied from the Exome Variant Server PHKA1_000126 11/10563 10/6728 1/3835 - - - - - - -
?/? c.864+12T>C r.(=) p.(=) g.71885989A>G Copied from the Exome Variant Server PHKA1_000125 1/10563 0/6728 1/3835 - - - - - - -
?/? c.864+50A>G r.(=) p.(=) g.71885951T>C Copied from the Exome Variant Server PHKA1_000124 1/10559 0/6724 1/3835 - - - - - - -
?/? c.865-44G>A r.(=) p.(=) g.71877535C>T Copied from the Exome Variant Server PHKA1_000123 1/10563 0/6728 1/3835 - - - - - - -
?/? c.865-36G>A r.(=) p.(=) g.71877527C>T Copied from the Exome Variant Server PHKA1_000122 45/10563 0/6728 45/3835 - - - - - - -
?/? c.865-30G>A r.(=) p.(=) g.71877521C>T Copied from the Exome Variant Server PHKA1_000121 2/10563 0/6728 2/3835 - - - - - - -
?/? c.868C>T r.(?) p.(Arg290Cys) g.71877488G>A Copied from the Exome Variant Server PHKA1_000120 1/10563 1/6728 0/3835 - - - - - - -
?/? c.890T>C r.(?) p.(Leu297Pro) g.71877466A>G Copied from the Exome Variant Server PHKA1_000119 2/10563 2/6728 0/3835 - - - - - - -
?/? c.952C>T r.(=) p.(=) g.71876059G>A Copied from the Exome Variant Server PHKA1_000118 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1041+26del r.(=) p.(=) g.71875944del Copied from the Exome Variant Server PHKA1_000117 1/10205 0/6484 1/3721 - - - - - - -
?/? c.1041+49T>C r.(=) p.(=) g.71875921A>G Copied from the Exome Variant Server PHKA1_000116 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1042-42C>G r.(=) p.(=) g.71873422G>C Copied from the Exome Variant Server PHKA1_000115 3/10541 0/6710 3/3831 - - - - - - -
?/? c.1137+36A>C r.(=) p.(=) g.71873249T>G Copied from the Exome Variant Server PHKA1_000114 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1137+46C>T r.(=) p.(=) g.71873239G>A Copied from the Exome Variant Server PHKA1_000113 3/10562 0/6727 3/3835 - - - - - - -
?/? c.1137+47A>G r.(=) p.(=) g.71873238T>C Copied from the Exome Variant Server PHKA1_000112 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1137+47_1137+48insA r.(=) p.(=) g.71873237_71873238insT Copied from the Exome Variant Server PHKA1_000111 2/10204 0/6483 2/3721 - - - - - - -
?/? c.1141G>A r.(?) p.(Asp381Asn) g.71872498C>T Copied from the Exome Variant Server PHKA1_000110 14/10563 13/6728 1/3835 - - - - - - -
?/? c.1245+7G>A r.(=) p.(=) g.71872387C>T Copied from the Exome Variant Server PHKA1_000109 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1245+20C>A r.(=) p.(=) g.71872374G>T Copied from the Exome Variant Server PHKA1_000108 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1245+39C>T r.(=) p.(=) g.71872355G>A Copied from the Exome Variant Server PHKA1_000107 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1245+46C>T r.(=) p.(=) g.71872348G>A Copied from the Exome Variant Server PHKA1_000106 1/10560 0/6728 1/3832 - - - - - - -
?/? c.1246-55G>A r.(=) p.(=) g.71870373C>T Copied from the Exome Variant Server PHKA1_000105 12/3600 0/2391 12/1209 - - - - - - -
?/? c.1297G>A r.(?) p.(Val433Ile) g.71870267C>T Copied from the Exome Variant Server PHKA1_000104 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1324+27A>G r.(=) p.(=) g.71870213T>C Copied from the Exome Variant Server PHKA1_000103 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1324+43G>A r.(=) p.(=) g.71870197C>T Copied from the Exome Variant Server PHKA1_000102 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1325-46T>C r.(=) p.(=) g.71864392A>G Copied from the Exome Variant Server PHKA1_000101 109/10562 0/6727 109/3835 - - - - - - -
?/? c.1325-26G>A r.(=) p.(=) g.71864372C>T Copied from the Exome Variant Server PHKA1_000100 86/10563 1/6728 85/3835 - - - - - - -
?/? c.1326C>G r.(=) p.(=) g.71864345G>C Copied from the Exome Variant Server PHKA1_000099 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1340A>G r.(?) p.(Glu447Gly) g.71864331T>C Copied from the Exome Variant Server PHKA1_000097 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1360A>G r.(?) p.(Ile454Val) g.71864311T>C Copied from the Exome Variant Server PHKA1_000095 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1361T>C r.(?) p.(Ile454Thr) g.71864310A>G Copied from the Exome Variant Server PHKA1_000093 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1459+6_1459+8del r.(=) p.(=) g.71864204_71864206del Copied from the Exome Variant Server PHKA1_000098 33/10205 11/6484 22/3721 - - - - - - -
?/? c.1460-23A>T r.(=) p.(=) g.71856259T>A Copied from the Exome Variant Server PHKA1_000096 17/10563 0/6728 17/3835 - - - - - - -
?/? c.1460-15T>A r.(=) p.(=) g.71856251A>T Copied from the Exome Variant Server PHKA1_000094 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1540C>T r.(?) p.(Arg514Trp) g.71856156G>A Copied from the Exome Variant Server PHKA1_000092 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1611G>A r.(=) p.(=) g.71855108C>T Copied from the Exome Variant Server PHKA1_000091 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1664G>A r.(?) p.(Arg555Gln) g.71855055C>T Copied from the Exome Variant Server PHKA1_000090 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1698C>A r.(=) p.(=) g.71855021G>T Copied from the Exome Variant Server PHKA1_000089 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1714+25C>T r.(=) p.(=) g.71854980G>A Copied from the Exome Variant Server PHKA1_000088 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1715-51A>G r.(=) p.(=) g.71846950T>C Copied from the Exome Variant Server PHKA1_000087 26/10563 0/6728 26/3835 - - - - - - -
?/? c.1715-35C>T r.(=) p.(=) g.71846934G>A Copied from the Exome Variant Server PHKA1_000086 13/10563 12/6728 1/3835 - - - - - - -
?/? c.1740A>G r.(=) p.(=) g.71846874T>C Copied from the Exome Variant Server PHKA1_000085 7/10563 0/6728 7/3835 - - - - - - -
?/? c.1776G>T r.(=) p.(=) g.71846838C>A Copied from the Exome Variant Server PHKA1_000084 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1787G>A r.(?) p.(Gly596Glu) g.71846827C>T Copied from the Exome Variant Server PHKA1_000083 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1794-7T>A r.(=) p.(=) g.71843132A>T Copied from the Exome Variant Server PHKA1_000082 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1802C>T r.(?) p.(Thr601Ile) g.71843117G>A Copied from the Exome Variant Server PHKA1_000081 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1960+45A>G r.(=) p.(=) g.71842914T>C Copied from the Exome Variant Server PHKA1_000080 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1973A>G r.(?) p.(Asp658Gly) g.71840739T>C Copied from the Exome Variant Server PHKA1_000079 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1998C>T r.(=) p.(=) g.71840714G>A Copied from the Exome Variant Server PHKA1_000078 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2023C>T r.(?) p.(Pro675Ser) g.71840689G>A Copied from the Exome Variant Server PHKA1_000077 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2060A>G r.(?) p.(Asp687Gly) g.71840652T>C Copied from the Exome Variant Server PHKA1_000076 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2063G>A r.(?) p.(Arg688Gln) g.71840649C>T Copied from the Exome Variant Server PHKA1_000075 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2085_2087del r.(?) p.(Thr696del) g.71840625_71840627del Copied from the Exome Variant Server PHKA1_000074 37/10205 21/6484 16/3721 - - - - - - -
?/? c.2093A>T r.(?) p.(Asp698Val) g.71840619T>A Copied from the Exome Variant Server PHKA1_000073 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2138-50A>G r.(=) p.(=) g.71839205T>C Copied from the Exome Variant Server PHKA1_000072 1/10554 0/6719 1/3835 - - - - - - -
?/? c.2138-33C>T r.(=) p.(=) g.71839188G>A Copied from the Exome Variant Server PHKA1_000071 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2160G>A r.(=) p.(=) g.71839133C>T Copied from the Exome Variant Server PHKA1_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2171A>G r.(?) p.(Gln724Arg) g.71839122T>C Copied from the Exome Variant Server PHKA1_000069 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2179C>T r.(?) p.(Arg727Trp) g.71839114G>A Copied from the Exome Variant Server PHKA1_000068 6/10563 5/6728 1/3835 - - - - - - -
?/? c.2229+24C>T r.(=) p.(=) g.71839040G>A Copied from the Exome Variant Server PHKA1_000067 4/10562 0/6727 4/3835 - - - - - - -
?/? c.2229+38A>T r.(=) p.(=) g.71839026T>A Copied from the Exome Variant Server PHKA1_000066 1/10559 0/6725 1/3834 - - - - - - -
?/? c.2229+51T>C r.(=) p.(=) g.71839013A>G Copied from the Exome Variant Server PHKA1_000065 1/10554 1/6721 0/3833 - - - - - - -
?/? c.2230-20C>T r.(=) p.(=) g.71838719G>A Copied from the Exome Variant Server PHKA1_000064 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2329C>G r.(?) p.(Gln777Glu) g.71838600G>C Copied from the Exome Variant Server PHKA1_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2335C>A r.(?) p.(Gln779Lys) g.71838594G>T Copied from the Exome Variant Server PHKA1_000062 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2365A>G r.(?) p.(Met789Val) g.71838564T>C Copied from the Exome Variant Server PHKA1_000061 4/10562 4/6727 0/3835 - - - - - - -
?/? c.2370-19C>T r.(=) p.(=) g.71831053G>A Copied from the Exome Variant Server PHKA1_000060 1/10562 0/6727 1/3835 - - - - - - -
?/? c.2370-13G>A r.(=) p.(=) g.71831047C>T Copied from the Exome Variant Server PHKA1_000059 1/10562 0/6727 1/3835 - - - - - - -
?/? c.2419A>G r.(?) p.(Arg807Gly) g.71830985T>C Copied from the Exome Variant Server PHKA1_000058 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2433C>T r.(=) p.(=) g.71830971G>A Copied from the Exome Variant Server PHKA1_000057 24/10563 0/6728 24/3835 - - - - - - -
?/? c.2462G>A r.(?) p.(Arg821His) g.71830942C>T Copied from the Exome Variant Server PHKA1_000056 32/10563 29/6728 3/3835 - - - - - - -
?/? c.2480G>A r.(?) p.(Arg827Gln) g.71830924C>T Copied from the Exome Variant Server PHKA1_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2483A>G r.(?) p.(Tyr828Cys) g.71830921T>C Copied from the Exome Variant Server PHKA1_000054 3/10563 3/6728 0/3835 - - - - - - -
?/? c.2526+33A>C r.(=) p.(=) g.71830845T>G Copied from the Exome Variant Server PHKA1_000053 3/10559 0/6725 3/3834 - - - - - - -
?/? c.2526+40C>T r.(=) p.(=) g.71830838G>A Copied from the Exome Variant Server PHKA1_000052 38/10553 0/6723 38/3830 - - - - - - -
?/? c.2527-28A>G r.(=) p.(=) g.71829581T>C Copied from the Exome Variant Server PHKA1_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2527-20A>G r.(=) p.(=) g.71829573T>C Copied from the Exome Variant Server PHKA1_000050 1/10563 0/6728 1/3835 - - - - - - -
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