Unique variants in gene NKAP

Information The variants shown are described using the NM_024528.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.16G>T r.(?) p.(Gly6Cys) g.119077553C>A Copied from the Exome Variant Server NKAP_000043 1/10286 1/6543 0/3743
1 c.181G>C r.(?) p.(Gly61Arg) g.119077388C>G Copied from the Exome Variant Server NKAP_000042 1/10556 1/6724 0/3832
1 c.192C>T r.(=) p.(=) g.119077377G>A Copied from the Exome Variant Server NKAP_000041 5/10555 0/6722 5/3833
1 c.243A>G r.(=) p.(=) g.119077326T>C Copied from the Exome Variant Server NKAP_000040 2/10562 0/6728 2/3834
1 c.268A>G r.(?) p.(Ile90Val) g.119077301T>C Copied from the Exome Variant Server NKAP_000039 1/10563 1/6728 0/3835
1 c.295G>A r.(?) p.(Val99Ile) g.119077274C>T Copied from the Exome Variant Server NKAP_000038 1/10562 1/6727 0/3835
1 c.321C>T r.(=) p.(=) g.119077248G>A Copied from the Exome Variant Server NKAP_000037 170/10547 0/6714 170/3833
1 c.387-25T>C r.(=) p.(=) g.119072798A>G Copied from the Exome Variant Server NKAP_000036 6/10558 0/6723 6/3835
1 c.387-24_387-22del r.(=) p.(=) g.119072795_119072797del Copied from the Exome Variant Server NKAP_000035 2/10200 0/6479 2/3721
1 c.396T>C r.(=) p.(=) g.119072764A>G Copied from the Exome Variant Server NKAP_000034 1/10561 1/6726 0/3835
1 c.467+19T>C r.(=) p.(=) g.119072674A>G Copied from the Exome Variant Server NKAP_000033 1/10538 1/6717 0/3821
1 c.468-44C>G r.(=) p.(=) g.119070689G>C Copied from the Exome Variant Server NKAP_000032 3/10560 1/6725 2/3835
1 c.477A>G r.(=) p.(=) g.119070636T>C Copied from the Exome Variant Server NKAP_000031 2/10561 2/6726 0/3835
1 c.480T>C r.(=) p.(=) g.119070633A>G Copied from the Exome Variant Server NKAP_000030 1/10562 1/6727 0/3835
1 c.527C>T r.(?) p.(Ser176Phe) g.119070586G>A Copied from the Exome Variant Server NKAP_000029 1/10559 1/6726 0/3833
1 c.538+8T>A r.(=) p.(=) g.119070567A>T Copied from the Exome Variant Server NKAP_000028 5829/10551 3387/6718 2442/3833
1 c.539-41T>C r.(=) p.(=) g.119070435A>G Copied from the Exome Variant Server NKAP_000027 2/10302 2/6608 0/3694
1 c.539-36T>A r.(=) p.(=) g.119070430A>T Copied from the Exome Variant Server NKAP_000026 1/10344 1/6629 0/3715
1 c.539-17A>T r.(=) p.(=) g.119070411T>A Copied from the Exome Variant Server NKAP_000025 6080/10494 3558/6692 2522/3802
1 c.550A>G r.(?) p.(Lys184Glu) g.119070383T>C Copied from the Exome Variant Server NKAP_000024 1/10563 1/6728 0/3835
1 c.553_555del r.(?) p.(Lys185del) g.119070378_119070380del Copied from the Exome Variant Server NKAP_000023 2/10205 1/6484 1/3721
1 c.563G>A r.(?) p.(Arg188His) g.119070370C>T Copied from the Exome Variant Server NKAP_000022 10/10563 0/6728 10/3835
1 c.603_605del r.(?) p.(Ser202del) g.119070328_119070330del Copied from the Exome Variant Server NKAP_000021 1164/10205 341/6484 823/3721
1 c.673+7A>G r.(=) p.(=) g.119070253T>C Copied from the Exome Variant Server NKAP_000020 3/10563 3/6728 0/3835
1 c.673+8C>T r.(=) p.(=) g.119070252G>A Copied from the Exome Variant Server NKAP_000019 1/10563 1/6728 0/3835
1 c.673+12A>G r.(=) p.(=) g.119070248T>C Copied from the Exome Variant Server NKAP_000018 5/10563 5/6728 0/3835
1 c.686A>C r.(?) p.(Lys229Thr) g.119068508T>G Copied from the Exome Variant Server NKAP_000017 1/10558 0/6725 1/3833
1 c.737+23T>C r.(=) p.(=) g.119068434A>G Copied from the Exome Variant Server NKAP_000016 1/10497 0/6670 1/3827
1 c.738-23G>A r.(=) p.(=) g.119066202C>T Copied from the Exome Variant Server NKAP_000015 92/10558 89/6725 3/3833
1 c.747T>C r.(=) p.(=) g.119066170A>G Copied from the Exome Variant Server NKAP_000014 2/10561 2/6726 0/3835
1 c.768G>T r.(?) p.(Lys256Asn) g.119066149C>A Copied from the Exome Variant Server NKAP_000013 1/10562 1/6727 0/3835
1 c.794G>A r.(?) p.(Ser265Asn) g.119066123C>T Copied from the Exome Variant Server NKAP_000012 1/10563 1/6728 0/3835
1 c.812A>T r.(?) p.(Glu271Val) g.119066105T>A Copied from the Exome Variant Server NKAP_000011 1/10563 0/6728 1/3835
1 c.847+12T>G r.(=) p.(=) g.119066058A>C Copied from the Exome Variant Server NKAP_000010 1/10563 1/6728 0/3835
1 c.848-26T>C r.(=) p.(=) g.119066000A>G Copied from the Exome Variant Server NKAP_000008 1/10563 1/6728 0/3835
1 c.848-15_848-9del r.(=) p.(=) g.119065983_119065989del Copied from the Exome Variant Server NKAP_000006 2/10205 2/6484 0/3721
1 c.923+6C>T r.(=) p.(=) g.119065893G>A Copied from the Exome Variant Server NKAP_000005 7140/10507 3632/6687 3508/3820
1 c.924-36T>C r.(=) p.(=) g.119064164A>G Copied from the Exome Variant Server NKAP_000009 10/10563 0/6728 10/3835
1 c.924-9A>C r.(=) p.(=) g.119064137T>G Copied from the Exome Variant Server NKAP_000007 1/10563 1/6728 0/3835
1 c.939G>A r.(=) p.(=) g.119064113C>T Copied from the Exome Variant Server NKAP_000004 3/10563 3/6728 0/3835
1 c.1074-36A>C r.(=) p.(=) g.119059393T>G Copied from the Exome Variant Server NKAP_000003 1/10563 1/6728 0/3835
1 c.1205G>A r.(?) p.(Arg402Gln) g.119059226C>T Copied from the Exome Variant Server NKAP_000002 1/10563 0/6728 1/3835
1 c.*51G>A r.(=) p.(=) g.119059132C>T Copied from the Exome Variant Server NKAP_000001 3/10561 3/6726 0/3835
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