Unique variants in gene KLHL4

Information The variants shown are described using the NM_019117.4 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.122A>G r.(?) p.(Tyr41Cys) g.86773018A>G Copied from the Exome Variant Server KLHL4_000001 12/10563 11/6728 1/3835
1 c.168T>G r.(=) p.(=) g.86773064T>G Copied from the Exome Variant Server KLHL4_000002 1/10563 0/6728 1/3835
1 c.184C>T r.(=) p.(=) g.86773080C>T Copied from the Exome Variant Server KLHL4_000003 6/10563 0/6728 6/3835
1 c.211C>G r.(?) p.(His71Asp) g.86773107C>G Copied from the Exome Variant Server KLHL4_000004 1/10562 1/6728 0/3834
1 c.214A>G r.(?) p.(Asn72Asp) g.86773110A>G Copied from the Exome Variant Server KLHL4_000005 1/10562 1/6728 0/3834
1 c.259G>A r.(?) p.(Ala87Thr) g.86773155G>A Copied from the Exome Variant Server KLHL4_000006 1/10563 1/6728 0/3835
1 c.404T>A r.(?) p.(Ile135Lys) g.86773300T>A Copied from the Exome Variant Server KLHL4_000007 1/10543 1/6719 0/3824
1 c.423-30A>G r.(=) p.(=) g.86868850A>G Copied from the Exome Variant Server KLHL4_000008 5/10553 0/6718 5/3835
1 c.492C>T r.(=) p.(=) g.86868949C>T Copied from the Exome Variant Server KLHL4_000009 8/10562 7/6727 1/3835
1 c.560T>C r.(?) p.(Ile187Thr) g.86869017T>C Copied from the Exome Variant Server KLHL4_000010 1/10563 0/6728 1/3835
1 c.590+25T>C r.(=) p.(=) g.86869072T>C Copied from the Exome Variant Server KLHL4_000011 4/10562 0/6727 4/3835
1 c.591-8A>G r.(=) p.(=) g.86869429A>G Copied from the Exome Variant Server KLHL4_000012 1/10562 0/6727 1/3835
1 c.591-4C>T r.spl? p.? g.86869433C>T Copied from the Exome Variant Server KLHL4_000013 1/10562 1/6727 0/3835
1 c.659_661del r.(?) p.(Glu222del) g.86869505_86869507del Copied from the Exome Variant Server KLHL4_000014 1/10205 0/6484 1/3721
1 c.662A>T r.(?) p.(Glu221Val) g.86869508A>T Copied from the Exome Variant Server KLHL4_000015 1/10563 1/6728 0/3835
1 c.711G>T r.(=) p.(=) g.86869557G>T Copied from the Exome Variant Server KLHL4_000016 3/10563 0/6728 3/3835
1 c.727+19T>C r.(=) p.(=) g.86869592T>C Copied from the Exome Variant Server KLHL4_000017 1/10563 0/6728 1/3835
1 c.727+38C>A r.(=) p.(=) g.86869611C>A Copied from the Exome Variant Server KLHL4_000018 17/10559 9/6724 8/3835
1 c.728-43T>G r.(=) p.(=) g.86872892T>G Copied from the Exome Variant Server KLHL4_000019 1/10560 1/6725 0/3835
1 c.757G>A r.(?) p.(Glu253Lys) g.86872964G>A Copied from the Exome Variant Server KLHL4_000020 1/10563 0/6728 1/3835
1 c.763T>C r.(=) p.(=) g.86872970T>C Copied from the Exome Variant Server KLHL4_000021 1/10563 1/6728 0/3835
1 c.768G>T r.(=) p.(=) g.86872975G>T Copied from the Exome Variant Server KLHL4_000022 1/10563 0/6728 1/3835
1 c.774A>G r.(=) p.(=) g.86872981A>G Copied from the Exome Variant Server KLHL4_000023 4/10563 0/6728 4/3835
1 c.825C>T r.(=) p.(=) g.86873032C>T Copied from the Exome Variant Server KLHL4_000024 2/10563 2/6728 0/3835
1 c.924+11T>C r.(=) p.(=) g.86873142T>C Copied from the Exome Variant Server KLHL4_000025 7/10563 7/6728 0/3835
1 c.924+49_924+53del r.(=) p.(=) g.86873180_86873184del Copied from the Exome Variant Server KLHL4_000026 3/10177 1/6459 2/3718
1 c.925-33G>A r.(=) p.(=) g.86877178G>A Copied from the Exome Variant Server KLHL4_000027 1/10549 1/6716 0/3833
1 c.925-14C>T r.(=) p.(=) g.86877197C>T Copied from the Exome Variant Server KLHL4_000028 1/10562 1/6728 0/3834
1 c.975T>C r.(=) p.(=) g.86877261T>C Copied from the Exome Variant Server KLHL4_000029 3/10563 0/6728 3/3835
1 c.1029G>A r.(=) p.(=) g.86877315G>A Copied from the Exome Variant Server KLHL4_000030 1/10563 1/6728 0/3835
1 c.1045C>G r.(?) p.(Leu349Val) g.86877331C>G Copied from the Exome Variant Server KLHL4_000031 1/10563 1/6728 0/3835
1 c.1062G>T r.(=) p.(=) g.86877348G>T Copied from the Exome Variant Server KLHL4_000032 2033/10563 1319/6728 714/3835
1 c.1126C>T r.(?) p.(Leu376Phe) g.86877412C>T Copied from the Exome Variant Server KLHL4_000033 1/10563 1/6728 0/3835
1 c.1137+12T>C r.(=) p.(=) g.86877435T>C Copied from the Exome Variant Server KLHL4_000034 1/10563 0/6728 1/3835
1 c.1137+30del r.(=) p.(=) g.86877453del Copied from the Exome Variant Server KLHL4_000035 1/10197 0/6482 1/3715
1 c.1137+31A>G r.(=) p.(=) g.86877454A>G Copied from the Exome Variant Server KLHL4_000036 1/10563 0/6728 1/3835
1 c.1137+35T>C r.(=) p.(=) g.86877458T>C Copied from the Exome Variant Server KLHL4_000037 55/10563 1/6728 54/3835
1 c.1137+48C>G r.(=) p.(=) g.86877471C>G Copied from the Exome Variant Server KLHL4_000038 1/10563 1/6728 0/3835
1 c.1138-19A>G r.(=) p.(=) g.86880591A>G Copied from the Exome Variant Server KLHL4_000039 1/10563 0/6728 1/3835
1 c.1138-9A>T r.(=) p.(=) g.86880601A>T Copied from the Exome Variant Server KLHL4_000040 7/10563 0/6728 7/3835
1 c.1138-8C>T r.(=) p.(=) g.86880602C>T Copied from the Exome Variant Server KLHL4_000041 1/10563 1/6728 0/3835
1 c.1324+41T>C r.(=) p.(=) g.86880837T>C Copied from the Exome Variant Server KLHL4_000042 1/10563 1/6728 0/3835
1 c.1359C>T r.(=) p.(=) g.86887244C>T Copied from the Exome Variant Server KLHL4_000043 6692/10563 5000/6728 1692/3835
1 c.1394G>A r.(?) p.(Arg465His) g.86887279G>A Copied from the Exome Variant Server KLHL4_000044 1/10563 0/6728 1/3835
1 c.1413C>T r.(=) p.(=) g.86887298C>T Copied from the Exome Variant Server KLHL4_000045 1/10563 1/6728 0/3835
1 c.1485T>C r.(=) p.(=) g.86887370T>C Copied from the Exome Variant Server KLHL4_000046 1/10563 0/6728 1/3835
1 c.1549+13C>A r.(=) p.(=) g.86887447C>A Copied from the Exome Variant Server KLHL4_000047 1/10562 1/6727 0/3835
1 c.1549+14G>A r.(=) p.(=) g.86887448G>A Copied from the Exome Variant Server KLHL4_000048 1/10562 1/6727 0/3835
1 c.1550-41G>T r.(=) p.(=) g.86888708G>T Copied from the Exome Variant Server KLHL4_000049 1/10560 0/6725 1/3835
1 c.1555G>A r.(?) p.(Ala519Thr) g.86888754G>A Copied from the Exome Variant Server KLHL4_000050 2/10563 0/6728 2/3835
1 c.1671A>T r.(=) p.(=) g.86888870A>T Copied from the Exome Variant Server KLHL4_000051 2/10563 2/6728 0/3835
1 c.1686A>C r.(=) p.(=) g.86888885A>C Copied from the Exome Variant Server KLHL4_000052 1/10563 0/6728 1/3835
1 c.1709A>G r.(?) p.(Asn570Ser) g.86888908A>G Copied from the Exome Variant Server KLHL4_000053 1/10563 1/6728 0/3835
1 c.1712+33C>A r.(=) p.(=) g.86888944C>A Copied from the Exome Variant Server KLHL4_000054 1/10563 1/6728 0/3835
1 c.1713-51T>A r.(=) p.(=) g.86890512T>A Copied from the Exome Variant Server KLHL4_000055 1/10562 0/6727 1/3835
1 c.1713-17_1713-14del r.(=) p.(=) g.86890546_86890549del Copied from the Exome Variant Server KLHL4_000056 4/10205 2/6484 2/3721
1 c.1713-4C>G r.spl? p.? g.86890559C>G Copied from the Exome Variant Server KLHL4_000057 1/10563 0/6728 1/3835
1 c.1819C>T r.(?) p.(Arg607Cys) g.86890669C>T Copied from the Exome Variant Server KLHL4_000058 1/10563 0/6728 1/3835
1 c.1854C>T r.(=) p.(=) g.86890704C>T Copied from the Exome Variant Server KLHL4_000059 1/10563 0/6728 1/3835
1 c.1916G>A r.(?) p.(Cys639Tyr) g.86890766G>A Copied from the Exome Variant Server KLHL4_000060 1/10563 0/6728 1/3835
1 c.1924C>T r.(?) p.(Arg642Trp) g.86890774C>T Copied from the Exome Variant Server KLHL4_000061 2/10563 1/6728 1/3835
1 c.1956T>C r.(=) p.(=) g.86919794T>C Copied from the Exome Variant Server KLHL4_000062 1/10563 0/6728 1/3835
1 c.2020G>A r.(?) p.(Val674Met) g.86919858G>A Copied from the Exome Variant Server KLHL4_000063 1/10563 1/6728 0/3835
1 c.2037C>T r.(=) p.(=) g.86919875C>T Copied from the Exome Variant Server KLHL4_000064 6/10563 0/6728 6/3835
1 c.2098-38A>G r.(=) p.(=) g.86921437A>G Copied from the Exome Variant Server KLHL4_000065 1/10560 1/6725 0/3835
1 c.*45del r.(=) p.(=) g.86921579del Copied from the Exome Variant Server KLHL4_000066 1/10205 1/6484 0/3721
1 c.*2769T>C r.(=) p.(=) g.86924303T>C Copied from the Exome Variant Server KLHL4_000067 37/10563 35/6728 2/3835
Legend