Full data view for gene ELF4

Information The variants shown are described using the NM_001421.3 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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.-45T>C r.(=) p.(=) g.129215349A>G Copied from the Exome Variant Server ELF4_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.37G>T r.(?) p.(Glu13*) g.129215268C>A Copied from the Exome Variant Server ELF4_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.75+13A>G r.(=) p.(=) g.129215217T>C Copied from the Exome Variant Server ELF4_000061 3/10563 3/6728 0/3835 - - - - - - -
?/? c.75+42A>C r.(=) p.(=) g.129215188T>G Copied from the Exome Variant Server ELF4_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.150G>A r.(=) p.(=) g.129208653C>T Copied from the Exome Variant Server ELF4_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.165C>T r.(=) p.(=) g.129208638G>A Copied from the Exome Variant Server ELF4_000058 1/10563 0/6728 1/3835 - - - - - - -
?/? c.168C>T r.(=) p.(=) g.129208635G>A Copied from the Exome Variant Server ELF4_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.193G>A r.(?) p.(Gly65Arg) g.129208610C>T Copied from the Exome Variant Server ELF4_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.283G>A r.(?) p.(Ala95Thr) g.129208081C>T Copied from the Exome Variant Server ELF4_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.285G>A r.(=) p.(=) g.129208079C>T Copied from the Exome Variant Server ELF4_000054 2/10563 0/6728 2/3835 - - - - - - -
?/? c.321C>T r.(=) p.(=) g.129208043G>A Copied from the Exome Variant Server ELF4_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.340+26C>T r.(=) p.(=) g.129207998G>A Copied from the Exome Variant Server ELF4_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.340+36C>T r.(=) p.(=) g.129207988G>A Copied from the Exome Variant Server ELF4_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.341-46C>G r.(=) p.(=) g.129206438G>C Copied from the Exome Variant Server ELF4_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.341-39T>G r.(=) p.(=) g.129206431A>C Copied from the Exome Variant Server ELF4_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.341-15T>C r.(=) p.(=) g.129206407A>G Copied from the Exome Variant Server ELF4_000048 52/10563 0/6728 52/3835 - - - - - - -
?/? c.352G>A r.(?) p.(Glu118Lys) g.129206381C>T Copied from the Exome Variant Server ELF4_000047 1/10563 0/6728 1/3835 - - - - - - -
?/? c.382G>A r.(?) p.(Ala128Thr) g.129206351C>T Copied from the Exome Variant Server ELF4_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.398A>G r.(?) p.(Asn133Ser) g.129206335T>C Copied from the Exome Variant Server ELF4_000045 1/10563 0/6728 1/3835 - - - - - - -
?/? c.438G>A r.(=) p.(=) g.129206295C>T Copied from the Exome Variant Server ELF4_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.440C>T r.(?) p.(Ala147Val) g.129206293G>A Copied from the Exome Variant Server ELF4_000043 17/10563 0/6728 17/3835 - - - - - - -
?/? c.441G>A r.(=) p.(=) g.129206292C>T Copied from the Exome Variant Server ELF4_000042 2/10563 0/6728 2/3835 - - - - - - -
?/? c.460G>C r.(?) p.(Glu154Gln) g.129206273C>G Copied from the Exome Variant Server ELF4_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.533-51C>T r.(=) p.(=) g.129205445G>A Copied from the Exome Variant Server ELF4_000040 1/10562 1/6728 0/3834 - - - - - - -
?/? c.533-22C>A r.(=) p.(=) g.129205416G>T Copied from the Exome Variant Server ELF4_000039 2/10563 2/6728 0/3835 - - - - - - -
?/? c.533-4_533-3insCCCTCA r.spl? p.? g.129205397_129205398insTGAGGG Copied from the Exome Variant Server ELF4_000038 1/10205 0/6484 1/3721 - - - - - - -
?/? c.535C>T r.(?) p.(Arg179Trp) g.129205392G>A Copied from the Exome Variant Server ELF4_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.554G>A r.(?) p.(Arg185Gln) g.129205373C>T Copied from the Exome Variant Server ELF4_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.560C>A r.(?) p.(Thr187Asn) g.129205367G>T Copied from the Exome Variant Server ELF4_000035 3/10563 2/6728 1/3835 - - - - - - -
?/? c.617-41C>T r.(=) p.(=) g.129205248G>A Copied from the Exome Variant Server ELF4_000034 2/10563 0/6728 2/3835 - - - - - - -
?/? c.617-30G>A r.(=) p.(=) g.129205237C>T Copied from the Exome Variant Server ELF4_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.617-8C>T r.(=) p.(=) g.129205215G>A Copied from the Exome Variant Server ELF4_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.675T>C r.(=) p.(=) g.129205149A>G Copied from the Exome Variant Server ELF4_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.680A>G r.(?) p.(Lys227Arg) g.129205144T>C Copied from the Exome Variant Server ELF4_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.798G>A r.(=) p.(=) g.129205026C>T Copied from the Exome Variant Server ELF4_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.809+51C>T r.(=) p.(=) g.129204964G>A Copied from the Exome Variant Server ELF4_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.810-4C>G r.spl? p.? g.129203656G>C Copied from the Exome Variant Server ELF4_000027 3/10563 3/6728 0/3835 - - - - - - -
?/? c.912T>C r.(=) p.(=) g.129203550A>G Copied from the Exome Variant Server ELF4_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.982C>T r.(?) p.(Arg328Trp) g.129203480G>A Copied from the Exome Variant Server ELF4_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.991A>G r.(?) p.(Ser331Gly) g.129203471T>C Copied from the Exome Variant Server ELF4_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1016C>T r.(?) p.(Ala339Val) g.129203446G>A Copied from the Exome Variant Server ELF4_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1034G>C r.(?) p.(Ser345Thr) g.129203428C>G Copied from the Exome Variant Server ELF4_000022 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1069G>A r.(?) p.(Gly357Ser) g.129203393C>T Copied from the Exome Variant Server ELF4_000021 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1105T>C r.(?) p.(Ser369Pro) g.129203357A>G Copied from the Exome Variant Server ELF4_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1107G>A r.(=) p.(=) g.129203355C>T Copied from the Exome Variant Server ELF4_000019 65/10563 63/6728 2/3835 - - - - - - -
?/? c.1144G>A r.(?) p.(Val382Ile) g.129203318C>T Copied from the Exome Variant Server ELF4_000018 3/10563 1/6728 2/3835 - - - - - - -
?/? c.1206C>A r.(?) p.(Ser402Arg) g.129201482G>T Copied from the Exome Variant Server ELF4_000017 1/10559 0/6726 1/3833 - - - - - - -
?/? c.1222G>A r.(?) p.(Val408Met) g.129201466C>T Copied from the Exome Variant Server ELF4_000016 2/10562 2/6727 0/3835 - - - - - - -
?/? c.1231G>A r.(?) p.(Val411Met) g.129201457C>T Copied from the Exome Variant Server ELF4_000015 12/10562 0/6727 12/3835 - - - - - - -
?/? c.1278G>A r.(=) p.(=) g.129201410C>T Copied from the Exome Variant Server ELF4_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1313C>T r.(?) p.(Ala438Val) g.129201375G>A Copied from the Exome Variant Server ELF4_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1326C>T r.(=) p.(=) g.129201362G>A Copied from the Exome Variant Server ELF4_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1483C>T r.(?) p.(Arg495Cys) g.129201205G>A Copied from the Exome Variant Server ELF4_000011 1/10545 1/6715 0/3830 - - - - - - -
?/? c.1488G>A r.(=) p.(=) g.129201200C>T Copied from the Exome Variant Server ELF4_000010 1/10550 0/6718 1/3832 - - - - - - -
?/? c.1496C>T r.(?) p.(Pro499Leu) g.129201192G>A Copied from the Exome Variant Server ELF4_000009 1/10544 1/6712 0/3832 - - - - - - -
?/? c.1499C>T r.(?) p.(Ala500Val) g.129201189G>A Copied from the Exome Variant Server ELF4_000008 8/10543 0/6710 8/3833 - - - - - - -
?/? c.1509G>A r.(=) p.(=) g.129201179C>T Copied from the Exome Variant Server ELF4_000007 2004/10539 1731/6708 273/3831 - - - - - - -
?/? c.1525C>T r.(?) p.(Pro509Ser) g.129201163G>A Copied from the Exome Variant Server ELF4_000006 2/10545 2/6716 0/3829 - - - - - - -
?/? c.1644G>A r.(=) p.(=) g.129201044C>T Copied from the Exome Variant Server ELF4_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1810C>T r.(?) p.(Arg604Cys) g.129200878G>A Copied from the Exome Variant Server ELF4_000004 27/10563 24/6728 3/3835 - - - - - - -
?/? c.1811G>A r.(?) p.(Arg604His) g.129200877C>T Copied from the Exome Variant Server ELF4_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1858G>T r.(?) p.(Gly620Cys) g.129200830C>A Copied from the Exome Variant Server ELF4_000002 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1934C>G r.(?) p.(Ala645Gly) g.129200754G>C Copied from the Exome Variant Server ELF4_000001 1/10557 1/6724 0/3833 - - - - - - -
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