All transcript variants in gene PHKG2

Information The variants shown are described using the NM_000294.2 transcript reference sequence.

155 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.22G>T r.(?) p.(Glu8*) g.30760163G>T Copied from the Exome Variant Server PHKG2_000001 1/12574 1/8354 0/4220
?/? c.95+40G>A r.(=) p.(=) g.30760276G>A Copied from the Exome Variant Server PHKG2_000002 1/12030 1/7972 0/4058
?/? c.95+42G>A r.(=) p.(=) g.30760278G>A Copied from the Exome Variant Server PHKG2_000003 1/12032 0/7978 1/4054
?/? c.96-12C>T r.(=) p.(=) g.30762415C>T Copied from the Exome Variant Server PHKG2_000004 2/12994 2/8600 0/4394
?/? c.96-10G>T r.(=) p.(=) g.30762417G>T Copied from the Exome Variant Server PHKG2_000005 45/12994 0/8600 45/4394
?/? c.139G>A r.(?) p.(Gly47Ser) g.30762470G>A Copied from the Exome Variant Server PHKG2_000006 1/12994 1/8600 0/4394
?/? c.153G>A r.(=) p.(=) g.30762484G>A Copied from the Exome Variant Server PHKG2_000007 2/12994 2/8600 0/4394
?/? c.174A>T r.(=) p.(=) g.30762505A>T Copied from the Exome Variant Server PHKG2_000008 8/12994 0/8600 8/4394
?/? c.175G>A r.(?) p.(Ala59Thr) g.30762506G>A Copied from the Exome Variant Server PHKG2_000009 1/12994 1/8600 0/4394
?/? c.182G>A r.(?) p.(Arg61Gln) g.30762513G>A Copied from the Exome Variant Server PHKG2_000010 1/12994 1/8600 0/4394
?/? c.192T>C r.(=) p.(=) g.30762523T>C Copied from the Exome Variant Server PHKG2_000011 1/12994 1/8600 0/4394
?/? c.227G>A r.(?) p.(Arg76Gln) g.30762558G>A Copied from the Exome Variant Server PHKG2_000012 1/12994 1/8600 0/4394
?/? c.256G>A r.(?) p.(Gly86Ser) g.30762587G>A Copied from the Exome Variant Server PHKG2_000013 51/12994 1/8600 50/4394
?/? c.271+36C>T r.(=) p.(=) g.30762638C>T Copied from the Exome Variant Server PHKG2_000014 1/12994 1/8600 0/4394
?/? c.271+38C>T r.(=) p.(=) g.30762640C>T Copied from the Exome Variant Server PHKG2_000015 12454/12994 8597/8600 3857/4394
?/? c.271+49G>C r.(=) p.(=) g.30762651G>C Copied from the Exome Variant Server PHKG2_000016 1/12994 1/8600 0/4394
?/? c.272-48C>G r.(=) p.(=) g.30762822C>G Copied from the Exome Variant Server PHKG2_000017 1/12994 1/8600 0/4394
?/? c.272-32C>T r.(=) p.(=) g.30762838C>T Copied from the Exome Variant Server PHKG2_000018 1/12994 0/8600 1/4394
?/? c.272-27T>C r.(=) p.(=) g.30762843T>C Copied from the Exome Variant Server PHKG2_000019 13/12994 9/8600 4/4394
?/? c.272-20C>T r.(=) p.(=) g.30762850C>T Copied from the Exome Variant Server PHKG2_000020 1/12994 1/8600 0/4394
?/? c.288C>T r.(=) p.(=) g.30762886C>T Copied from the Exome Variant Server PHKG2_000021 24/12994 21/8600 3/4394
?/? c.324C>T r.(=) p.(=) g.30762922C>T Copied from the Exome Variant Server PHKG2_000022 16/12994 15/8600 1/4394
?/? c.326+34C>T r.(=) p.(=) g.30762958C>T Copied from the Exome Variant Server PHKG2_000023 1/12994 1/8600 0/4394
?/? c.353A>G r.(?) p.(Tyr118Cys) g.30764579A>G Copied from the Exome Variant Server PHKG2_000024 1/12994 0/8600 1/4394
?/? c.360A>G r.(=) p.(=) g.30764586A>G Copied from the Exome Variant Server PHKG2_000025 1/12994 1/8600 0/4394
?/? c.384G>C r.(?) p.(Lys128Asn) g.30764610G>C Copied from the Exome Variant Server PHKG2_000026 2/12994 0/8600 2/4394
?/? c.392+37G>A r.(=) p.(=) g.30764655G>A Copied from the Exome Variant Server PHKG2_000027 1/12994 1/8600 0/4394
?/? c.393-22C>T r.(=) p.(=) g.30764693C>T Copied from the Exome Variant Server PHKG2_000028 1/12994 0/8600 1/4394
?/? c.393G>A r.(=) p.(=) g.30764715G>A Copied from the Exome Variant Server PHKG2_000029 30/12994 28/8600 2/4394
?/? c.403C>T r.(?) p.(Arg135Trp) g.30764725C>T Copied from the Exome Variant Server PHKG2_000030 2/12994 2/8600 0/4394
?/? c.422T>C r.(?) p.(Val141Ala) g.30764744T>C Copied from the Exome Variant Server PHKG2_000031 1/12994 1/8600 0/4394
?/? c.489C>T r.(=) p.(=) g.30764811C>T Copied from the Exome Variant Server PHKG2_000032 1/12994 0/8600 1/4394
?/? c.495G>T r.(?) p.(Met165Ile) g.30764817G>T Copied from the Exome Variant Server PHKG2_000033 1/12994 1/8600 0/4394
?/? c.529C>G r.(?) p.(His177Asp) g.30764851C>G Copied from the Exome Variant Server PHKG2_000034 1/12994 1/8600 0/4394
?/? c.530A>T r.(?) p.(His177Leu) g.30764852A>T Copied from the Exome Variant Server PHKG2_000035 1/12994 1/8600 0/4394
?/? c.535G>A r.(?) p.(Glu179Lys) g.30764857G>A Copied from the Exome Variant Server PHKG2_000036 1/12994 0/8600 1/4394
?/? c.543C>T r.(=) p.(=) g.30764865C>T Copied from the Exome Variant Server PHKG2_000037 1/12994 0/8600 1/4394
?/? c.554G>T r.(?) p.(Arg185Leu) g.30764876G>T Copied from the Exome Variant Server PHKG2_000038 1/12994 0/8600 1/4394
?/? c.556+2_556+3insGA r.spl? p.? g.30764880_30764881insGA Copied from the Exome Variant Server PHKG2_000039 1/12518 1/8254 0/4264
?/? c.556+5G>T r.spl? p.? g.30764883G>T Copied from the Exome Variant Server PHKG2_000040 1/12994 1/8600 0/4394
?/? c.576G>A r.(=) p.(=) g.30767522G>A Copied from the Exome Variant Server PHKG2_000041 1/12994 1/8600 0/4394
?/? c.585G>A r.(=) p.(=) g.30767531G>A Copied from the Exome Variant Server PHKG2_000042 2/12994 1/8600 1/4394
?/? c.645C>T r.(=) p.(=) g.30767591C>T Copied from the Exome Variant Server PHKG2_000043 1/12994 0/8600 1/4394
?/? c.647+16del r.(=) p.(=) g.30767609del Copied from the Exome Variant Server PHKG2_000044 11/12518 7/8254 4/4264
?/? c.648-38C>T r.(=) p.(=) g.30767650C>T Copied from the Exome Variant Server PHKG2_000045 1/12994 0/8600 1/4394
?/? c.648-37G>A r.(=) p.(=) g.30767651G>A Copied from the Exome Variant Server PHKG2_000046 1/12994 1/8600 0/4394
?/? c.648-31T>C r.(=) p.(=) g.30767657T>C Copied from the Exome Variant Server PHKG2_000047 2/12994 0/8600 2/4394
?/? c.648-24G>A r.(=) p.(=) g.30767664G>A Copied from the Exome Variant Server PHKG2_000048 3/12994 0/8600 3/4394
?/? c.648-13G>A r.(=) p.(=) g.30767675G>A Copied from the Exome Variant Server PHKG2_000049 2/12994 2/8600 0/4394
?/? c.690G>A r.(=) p.(=) g.30767730G>A Copied from the Exome Variant Server PHKG2_000050 1/12994 0/8600 1/4394
?/? c.706C>T r.(?) p.(Arg236Trp) g.30767746C>T Copied from the Exome Variant Server PHKG2_000051 1/12994 1/8600 0/4394
?/? c.707G>A r.(?) p.(Arg236Gln) g.30767747G>A Copied from the Exome Variant Server PHKG2_000052 1/12994 1/8600 0/4394
?/? c.709C>T r.(?) p.(Arg237Trp) g.30767749C>T Copied from the Exome Variant Server PHKG2_000053 1/12994 0/8600 1/4394
?/? c.757A>G r.(?) p.(Ser253Gly) g.30767797A>G Copied from the Exome Variant Server PHKG2_000054 1/12994 1/8600 0/4394
?/? c.761_763del r.(?) p.(Pro255del) g.30767801_30767803del Copied from the Exome Variant Server PHKG2_000055 4/12518 4/8254 0/4264
?/? c.774T>C r.(=) p.(=) g.30767814T>C Copied from the Exome Variant Server PHKG2_000056 1/12994 1/8600 0/4394
?/? c.778C>T r.(?) p.(Arg260Cys) g.30767818C>T Copied from the Exome Variant Server PHKG2_000057 1/12994 1/8600 0/4394
?/? c.782C>G r.(?) p.(Ser261Cys) g.30767822C>G Copied from the Exome Variant Server PHKG2_000058 2/12994 2/8600 0/4394
?/? c.801+19G>A r.(=) p.(=) g.30767860G>A Copied from the Exome Variant Server PHKG2_000059 2/12994 0/8600 2/4394
?/? c.801+20del r.(=) p.(=) g.30767861del Copied from the Exome Variant Server PHKG2_000060 3/12518 0/8254 3/4264
?/? c.801+32G>A r.(=) p.(=) g.30767873G>A Copied from the Exome Variant Server PHKG2_000061 1/12994 1/8600 0/4394
?/? c.802-13G>A r.(=) p.(=) g.30767898G>A Copied from the Exome Variant Server PHKG2_000062 1/12994 0/8600 1/4394
?/? c.802-10T>G r.(=) p.(=) g.30767901T>G Copied from the Exome Variant Server PHKG2_000063 1/12994 0/8600 1/4394
?/? c.807C>A r.(=) p.(=) g.30767916C>A Copied from the Exome Variant Server PHKG2_000064 1/12994 1/8600 0/4394
?/? c.837C>A r.(=) p.(=) g.30767946C>A Copied from the Exome Variant Server PHKG2_000065 1/12994 1/8600 0/4394
?/? c.920G>A r.(?) p.(Arg307Gln) g.30768029G>A Copied from the Exome Variant Server PHKG2_000066 3/12994 1/8600 2/4394
?/? c.927+13G>C r.(=) p.(=) g.30768049G>C Copied from the Exome Variant Server PHKG2_000067 2/12994 0/8600 2/4394
?/? c.927+17C>G r.(=) p.(=) g.30768053C>G Copied from the Exome Variant Server PHKG2_000068 25/12994 17/8600 8/4394
?/? c.927+18A>G r.(=) p.(=) g.30768054A>G Copied from the Exome Variant Server PHKG2_000069 1/12994 0/8600 1/4394
?/? c.927+19G>T r.(=) p.(=) g.30768055G>T Copied from the Exome Variant Server PHKG2_000070 1/12994 0/8600 1/4394
?/? c.927+24T>C r.(=) p.(=) g.30768060T>C Copied from the Exome Variant Server PHKG2_000071 1/12994 1/8600 0/4394
?/? c.927+30C>T r.(=) p.(=) g.30768066C>T Copied from the Exome Variant Server PHKG2_000072 6/12994 0/8600 6/4394
?/? c.927+44A>G r.(=) p.(=) g.30768080A>G Copied from the Exome Variant Server PHKG2_000073 2/12994 2/8600 0/4394
?/? c.928-42A>G r.(=) p.(=) g.30768083A>G Copied from the Exome Variant Server PHKG2_000074 1/12994 0/8600 1/4394
?/? c.942A>G r.(=) p.(=) g.30768139A>G Copied from the Exome Variant Server PHKG2_000075 1/12994 1/8600 0/4394
?/? c.985C>T r.(?) p.(Arg329Trp) g.30768182C>T Copied from the Exome Variant Server PHKG2_000076 1/12994 0/8600 1/4394
?/? c.1015G>A r.(?) p.(Asp339Asn) g.30768212G>A Copied from the Exome Variant Server PHKG2_000077 1/12994 0/8600 1/4394
?/? c.1050C>T r.(=) p.(=) g.30768247C>T Copied from the Exome Variant Server PHKG2_000078 6/12994 6/8600 0/4394
?/? c.1051G>A r.(?) p.(Asp351Asn) g.30768248G>A Copied from the Exome Variant Server PHKG2_000079 2/12994 0/8600 2/4394
?/? c.1066C>T r.(?) p.(Arg356Trp) g.30768263C>T Copied from the Exome Variant Server PHKG2_000080 3/12994 3/8600 0/4394
?/? c.1071C>G r.(=) p.(=) g.30768268C>G Copied from the Exome Variant Server PHKG2_000081 1/12994 1/8600 0/4394
?/? c.1074C>T r.(=) p.(=) g.30768271C>T Copied from the Exome Variant Server PHKG2_000082 1/12994 1/8600 0/4394
?/? c.1075G>A r.(?) p.(Gly359Arg) g.30768272G>A Copied from the Exome Variant Server PHKG2_000083 1/12994 1/8600 0/4394
?/? c.1108C>T r.(?) p.(Arg370Trp) g.30768305C>T Copied from the Exome Variant Server PHKG2_000084 1/12994 1/8600 0/4394
?/? c.1131_1132insC r.(?) p.(Gly380Trpfs*9) g.30768328_30768329insC Copied from the Exome Variant Server PHKG2_000085 8/12518 5/8254 3/4264
?/? c.1137T>C r.(=) p.(=) g.30768334T>C Copied from the Exome Variant Server PHKG2_000086 43/12994 38/8600 5/4394
?/? c.1181C>G r.(?) p.(Ala394Gly) g.30768378C>G Copied from the Exome Variant Server PHKG2_000087 1/12990 0/8600 1/4390
?/? c.1184C>T r.(?) p.(Ala395Val) g.30768381C>T Copied from the Exome Variant Server PHKG2_000088 3/12990 0/8600 3/4390
?/? c.1203C>T r.(=) p.(=) g.30768400C>T Copied from the Exome Variant Server PHKG2_000089 1/12990 0/8598 1/4392
?/? c.*22C>T r.(=) p.(=) g.30768440C>T Copied from the Exome Variant Server PHKG2_000090 7/12968 0/8590 7/4378
?/? c.*352G>A r.(=) p.(=) g.30768770G>A Copied from the Exome Variant Server PHKG2_000091 1/12994 1/8600 0/4394
?/? c.*477G>T r.(=) p.(=) g.30768895G>T Copied from the Exome Variant Server PHKG2_000092 1/12994 1/8600 0/4394
?/? c.*539C>T r.(?) p.(Arg279Gln) g.30768957C>T Copied from the Exome Variant Server PHKG2_000093 1/12994 1/8600 0/4394
?/? c.*540G>A r.(?) p.(Arg279*) g.30768958G>A Copied from the Exome Variant Server PHKG2_000094 1/12994 1/8600 0/4394
?/? c.*547G>A r.(=) p.(=) g.30768965G>A Copied from the Exome Variant Server PHKG2_000095 3/12994 3/8600 0/4394
?/? c.*562A>G r.(=) p.(=) g.30768980A>G Copied from the Exome Variant Server PHKG2_000096 1/12994 1/8600 0/4394
?/? c.*583G>A r.(=) p.(=) g.30769001G>A Copied from the Exome Variant Server PHKG2_000097 181/12994 0/8600 181/4394
?/? c.*587G>A r.(=) p.(=) g.30769005G>A Copied from the Exome Variant Server PHKG2_000098 1/12994 0/8600 1/4394
?/? c.*594G>T r.(=) p.(=) g.30769012G>T Copied from the Exome Variant Server PHKG2_000099 2/12994 0/8600 2/4394
?/? c.*600G>A r.(=) p.(=) g.30769018G>A Copied from the Exome Variant Server PHKG2_000100 12/12994 1/8600 11/4394
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