All transcript variants in gene PRKX

Information The variants shown are described using the NM_005044.4 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.128T>C r.(?) p.(Val43Ala) g.3631167A>G Copied from the Exome Variant Server PRKX_000064 5594/10109 2368/6447 3226/3662
?/? c.166+9G>A r.(=) p.(=) g.3631120C>T Copied from the Exome Variant Server PRKX_000063 1/10080 0/6412 1/3668
?/? c.167-40G>A r.(=) p.(=) g.3592847C>T Copied from the Exome Variant Server PRKX_000062 9713/10563 5983/6728 3730/3835
?/? c.167-24T>C r.(=) p.(=) g.3592831A>G Copied from the Exome Variant Server PRKX_000061 1/10563 1/6728 0/3835
?/? c.167-20T>C r.(=) p.(=) g.3592827A>G Copied from the Exome Variant Server PRKX_000060 4/10563 3/6728 1/3835
?/? c.167-16T>G r.(=) p.(=) g.3592823A>C Copied from the Exome Variant Server PRKX_000059 30/10563 1/6728 29/3835
?/? c.171T>C r.(=) p.(=) g.3592803A>G Copied from the Exome Variant Server PRKX_000058 2/10558 1/6723 1/3835
?/? c.177G>T r.(=) p.(=) g.3592797C>A Copied from the Exome Variant Server PRKX_000057 79/10558 73/6723 6/3835
?/? c.226G>A r.(?) p.(Ala76Thr) g.3592748C>T Copied from the Exome Variant Server PRKX_000056 1/10563 1/6728 0/3835
?/? c.249C>T r.(=) p.(=) g.3592725G>A Copied from the Exome Variant Server PRKX_000055 5331/10563 3862/6728 1469/3835
?/? c.252C>T r.(=) p.(=) g.3592722G>A Copied from the Exome Variant Server PRKX_000054 2/10563 2/6728 0/3835
?/? c.335+29C>T r.(=) p.(=) g.3592610G>A Copied from the Exome Variant Server PRKX_000053 1/10563 1/6728 0/3835
?/? c.336-33G>A r.(=) p.(=) g.3573486C>T Copied from the Exome Variant Server PRKX_000052 2/10560 0/6727 2/3833
?/? c.336-4G>A r.spl? p.? g.3573457C>T Copied from the Exome Variant Server PRKX_000051 1/10563 1/6728 0/3835
?/? c.355G>A r.(?) p.(Glu119Lys) g.3573434C>T Copied from the Exome Variant Server PRKX_000050 1/10563 1/6728 0/3835
?/? c.358C>T r.(?) p.(Arg120Cys) g.3573431G>A Copied from the Exome Variant Server PRKX_000049 1/10563 1/6728 0/3835
?/? c.376A>G r.(?) p.(Met126Val) g.3573413T>C Copied from the Exome Variant Server PRKX_000048 1/10563 1/6728 0/3835
?/? c.390G>A r.(=) p.(=) g.3573399C>T Copied from the Exome Variant Server PRKX_000047 4/10563 3/6728 1/3835
?/? c.393C>T r.(=) p.(=) g.3573396G>A Copied from the Exome Variant Server PRKX_000046 22/10563 3/6728 19/3835
?/? c.416G>A r.(?) p.(Arg139His) g.3573373C>T Copied from the Exome Variant Server PRKX_000045 1/10563 0/6728 1/3835
?/? c.464A>G r.(?) p.(Glu155Gly) g.3573325T>C Copied from the Exome Variant Server PRKX_000044 1/10563 0/6728 1/3835
?/? c.524C>G r.(?) p.(Pro175Arg) g.3573265G>C Copied from the Exome Variant Server PRKX_000043 1/10563 1/6728 0/3835
?/? c.579C>T r.(=) p.(=) g.3573210G>A Copied from the Exome Variant Server PRKX_000042 1/10563 1/6728 0/3835
?/? c.599+7G>A r.(=) p.(=) g.3573183C>T Copied from the Exome Variant Server PRKX_000041 1/10563 0/6728 1/3835
?/? c.599+11C>T r.(=) p.(=) g.3573179G>A Copied from the Exome Variant Server PRKX_000040 1/10563 1/6728 0/3835
?/? c.599+41G>T r.(=) p.(=) g.3573149C>A Copied from the Exome Variant Server PRKX_000039 1/10558 0/6723 1/3835
?/? c.599+45T>A r.(=) p.(=) g.3573145A>T Copied from the Exome Variant Server PRKX_000038 61/10558 0/6723 61/3835
?/? c.600-13_600-12del r.(=) p.(=) g.3560024_3560025del Copied from the Exome Variant Server PRKX_000037 1/8682 1/5447 0/3235
?/? c.600-11C>T r.(=) p.(=) g.3560023G>A Copied from the Exome Variant Server PRKX_000036 3/10422 1/6630 2/3792
?/? c.720-33C>G r.(=) p.(=) g.3544588G>C Copied from the Exome Variant Server PRKX_000035 15/10559 0/6724 15/3835
?/? c.815+21A>G r.(=) p.(=) g.3544439T>C Copied from the Exome Variant Server PRKX_000034 4/10561 0/6726 4/3835
?/? c.815+24A>T r.(=) p.(=) g.3544436T>A Copied from the Exome Variant Server PRKX_000033 5/10560 0/6726 5/3834
?/? c.816-21del r.(=) p.(=) g.3539378del Copied from the Exome Variant Server PRKX_000032 2640/10205 1674/6484 966/3721
?/? c.816-21dup r.(=) p.(=) g.3539378dup Copied from the Exome Variant Server PRKX_000031 1829/10205 1223/6484 606/3721
?/? c.816-21_816-20del r.(=) p.(=) g.3539377_3539378del Copied from the Exome Variant Server PRKX_000030 85/10205 55/6484 30/3721
?/? c.837C>T r.(=) p.(=) g.3539336G>A Copied from the Exome Variant Server PRKX_000029 5/10563 0/6728 5/3835
?/? c.873+16C>T r.(=) p.(=) g.3539284G>A Copied from the Exome Variant Server PRKX_000028 1/10563 1/6728 0/3835
?/? c.873+52C>T r.(=) p.(=) g.3539248G>A Copied from the Exome Variant Server PRKX_000027 591/8124 333/5497 258/2627
?/? c.874-57T>C r.(=) p.(=) g.3533990A>G Copied from the Exome Variant Server PRKX_000026 6/3600 0/2391 6/1209
?/? c.874-40A>G r.(=) p.(=) g.3533973T>C Copied from the Exome Variant Server PRKX_000025 3/10562 3/6728 0/3834
?/? c.874-29A>G r.(=) p.(=) g.3533962T>C Copied from the Exome Variant Server PRKX_000024 4993/10560 2662/6726 2331/3834
?/? c.902G>A r.(?) p.(Arg301Gln) g.3533905C>T Copied from the Exome Variant Server PRKX_000023 2/10562 2/6728 0/3834
?/? c.910C>T r.(?) p.(Arg304Cys) g.3533897G>A Copied from the Exome Variant Server PRKX_000022 2/10563 0/6728 2/3835
?/? c.912C>T r.(=) p.(=) g.3533895G>A Copied from the Exome Variant Server PRKX_000021 1/10563 1/6728 0/3835
?/? c.916G>A r.(?) p.(Val306Met) g.3533891C>T Copied from the Exome Variant Server PRKX_000020 1/10563 1/6728 0/3835
?/? c.935C>T r.(?) p.(Pro312Leu) g.3533872G>A Copied from the Exome Variant Server PRKX_000019 2/10561 2/6726 0/3835
?/? c.942A>G r.(=) p.(=) g.3533865T>C Copied from the Exome Variant Server PRKX_000018 4/10561 0/6726 4/3835
?/? c.948G>C r.(=) p.(=) g.3533859C>G Copied from the Exome Variant Server PRKX_000017 1/10562 1/6727 0/3835
?/? c.951+10A>T r.(=) p.(=) g.3533846T>A Copied from the Exome Variant Server PRKX_000016 172/10562 2/6727 170/3835
?/? c.951+35C>T r.(=) p.(=) g.3533821G>A Copied from the Exome Variant Server PRKX_000015 1/10558 0/6726 1/3832
?/? c.951+36G>C r.(=) p.(=) g.3533820C>G Copied from the Exome Variant Server PRKX_000014 1/10558 1/6726 0/3832
?/? c.951+59G>A r.(=) p.(=) g.3533797C>T Copied from the Exome Variant Server PRKX_000013 1/3600 0/2391 1/1209
?/? c.952-9G>A r.(=) p.(=) g.3530375C>T Copied from the Exome Variant Server PRKX_000012 20/10563 16/6728 4/3835
?/? c.960C>T r.(=) p.(=) g.3530358G>A Copied from the Exome Variant Server PRKX_000011 2/10563 2/6728 0/3835
?/? c.961G>A r.(?) p.(Val321Met) g.3530357C>T Copied from the Exome Variant Server PRKX_000010 6/10563 0/6728 6/3835
?/? c.981C>T r.(=) p.(=) g.3530337G>A Copied from the Exome Variant Server PRKX_000009 33/10563 1/6728 32/3835
?/? c.1017T>A r.(?) p.(Asn339Lys) g.3530301A>T Copied from the Exome Variant Server PRKX_000008 1/10563 0/6728 1/3835
?/? c.1032C>T r.(=) p.(=) g.3530286G>A Copied from the Exome Variant Server PRKX_000007 1/10563 0/6728 1/3835
?/? c.1034C>T r.(?) p.(Ala345Val) g.3530284G>A Copied from the Exome Variant Server PRKX_000006 1/10563 1/6728 0/3835
?/? c.1038C>T r.(=) p.(=) g.3530280G>A Copied from the Exome Variant Server PRKX_000005 9/10563 0/6728 9/3835
?/? c.1043C>T r.(?) p.(Pro348Leu) g.3530275G>A Copied from the Exome Variant Server PRKX_000004 1/10563 0/6728 1/3835
?/? c.*23+13A>G r.(=) p.(=) g.3530205T>C Copied from the Exome Variant Server PRKX_000003 53/10563 2/6728 51/3835
?/? c.*23+24C>A r.(=) p.(=) g.3530194G>T Copied from the Exome Variant Server PRKX_000002 6297/10563 3682/6728 2615/3835
?/? c.*23+28A>G r.(=) p.(=) g.3530190T>C Copied from the Exome Variant Server PRKX_000001 71/10563 0/6728 71/3835
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