Full data view for gene ESX1

Information The variants shown are described using the NM_153448.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-48C>T r.(=) p.(=) g.103499578G>A Copied from the Exome Variant Server ESX1_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-11G>C r.(=) p.(=) g.103499541C>G Copied from the Exome Variant Server ESX1_000056 2/10563 0/6728 2/3835 - - - - - - -
?/? c.-10C>T r.(=) p.(=) g.103499540G>A Copied from the Exome Variant Server ESX1_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.18G>C r.(=) p.(=) g.103499513C>G Copied from the Exome Variant Server ESX1_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.82+20C>T r.(=) p.(=) g.103499429G>A Copied from the Exome Variant Server ESX1_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.82+21G>C r.(=) p.(=) g.103499428C>G Copied from the Exome Variant Server ESX1_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.82+39C>T r.(=) p.(=) g.103499410G>A Copied from the Exome Variant Server ESX1_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.82+42_82+43del r.(=) p.(=) g.103499406_103499407del Copied from the Exome Variant Server ESX1_000050 19/10205 12/6484 7/3721 - - - - - - -
?/? c.82+48A>C r.(=) p.(=) g.103499401T>G Copied from the Exome Variant Server ESX1_000049 2/10563 0/6728 2/3835 - - - - - - -
?/? c.83-13C>T r.(=) p.(=) g.103499271G>A Copied from the Exome Variant Server ESX1_000048 2/10563 2/6728 0/3835 - - - - - - -
?/? c.91C>T r.(?) p.(Leu31Phe) g.103499250G>A Copied from the Exome Variant Server ESX1_000047 1/10562 0/6727 1/3835 - - - - - - -
?/? c.101C>T r.(?) p.(Thr34Ile) g.103499240G>A Copied from the Exome Variant Server ESX1_000046 2/10563 2/6728 0/3835 - - - - - - -
?/? c.132G>T r.(?) p.(Glu44Asp) g.103499209C>A Copied from the Exome Variant Server ESX1_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.161G>T r.(?) p.(Gly54Val) g.103499180C>A Copied from the Exome Variant Server ESX1_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.202C>A r.(?) p.(Pro68Thr) g.103499139G>T Copied from the Exome Variant Server ESX1_000043 1/10562 0/6727 1/3835 - - - - - - -
?/? c.210C>G r.(?) p.(Asp70Glu) g.103499131G>C Copied from the Exome Variant Server ESX1_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.225G>A r.(=) p.(=) g.103499116C>T Copied from the Exome Variant Server ESX1_000041 29/10562 23/6727 6/3835 - - - - - - -
?/? c.228T>C r.(=) p.(=) g.103499113A>G Copied from the Exome Variant Server ESX1_000040 5/10562 5/6727 0/3835 - - - - - - -
?/? c.312C>T r.(=) p.(=) g.103499029G>A Copied from the Exome Variant Server ESX1_000039 1/10513 1/6694 0/3819 - - - - - - -
?/? c.348G>A r.(=) p.(=) g.103498993C>T Copied from the Exome Variant Server ESX1_000038 1/10522 1/6698 0/3824 - - - - - - -
?/? c.368C>A r.(?) p.(Pro123Gln) g.103498973G>T Copied from the Exome Variant Server ESX1_000037 1/10536 1/6710 0/3826 - - - - - - -
?/? c.391G>A r.(?) p.(Glu131Lys) g.103498950C>T Copied from the Exome Variant Server ESX1_000036 1/10561 1/6726 0/3835 - - - - - - -
?/? c.406C>G r.(?) p.(Pro136Ala) g.103498935G>C Copied from the Exome Variant Server ESX1_000035 1/10561 0/6726 1/3835 - - - - - - -
?/? c.408A>C r.(=) p.(=) g.103498933T>G Copied from the Exome Variant Server ESX1_000034 1/10561 1/6726 0/3835 - - - - - - -
?/? c.426C>T r.(=) p.(=) g.103498915G>A Copied from the Exome Variant Server ESX1_000033 9/10549 0/6719 9/3830 - - - - - - -
?/? c.475G>C r.(?) p.(Asp159His) g.103498866C>G Copied from the Exome Variant Server ESX1_000032 6/10561 0/6726 6/3835 - - - - - - -
?/? c.498T>G r.(=) p.(=) g.103498843A>C Copied from the Exome Variant Server ESX1_000031 1/10559 1/6726 0/3833 - - - - - - -
?/? c.507-50A>G r.(=) p.(=) g.103497559T>C Copied from the Exome Variant Server ESX1_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.508G>C r.(?) p.(Glu170Gln) g.103497508C>G Copied from the Exome Variant Server ESX1_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.536C>G r.(?) p.(Thr179Ser) g.103497480G>C Copied from the Exome Variant Server ESX1_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.542A>G r.(?) p.(Asp181Gly) g.103497474T>C Copied from the Exome Variant Server ESX1_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.553-51A>G r.(=) p.(=) g.103495628T>C Copied from the Exome Variant Server ESX1_000026 1/10559 0/6725 1/3834 - - - - - - -
?/? c.578A>G r.(?) p.(Lys193Arg) g.103495552T>C Copied from the Exome Variant Server ESX1_000025 635/10563 588/6728 47/3835 - - - - - - -
?/? c.587G>A r.(?) p.(Arg196Gln) g.103495543C>T Copied from the Exome Variant Server ESX1_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.640C>T r.(?) p.(Pro214Ser) g.103495490G>A Copied from the Exome Variant Server ESX1_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.653T>A r.(?) p.(Phe218Tyr) g.103495477A>T Copied from the Exome Variant Server ESX1_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.721C>T r.(=) p.(=) g.103495409G>A Copied from the Exome Variant Server ESX1_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.725C>G r.(?) p.(Pro242Arg) g.103495405G>C Copied from the Exome Variant Server ESX1_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.754A>G r.(?) p.(Met252Val) g.103495376T>C Copied from the Exome Variant Server ESX1_000019 2/10563 2/6728 0/3835 - - - - - - -
?/? c.801A>G r.(?) p.(Ile267Met) g.103495329T>C Copied from the Exome Variant Server ESX1_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.808A>G r.(?) p.(Met270Val) g.103495322T>C Copied from the Exome Variant Server ESX1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.834C>T r.(=) p.(=) g.103495296G>A Copied from the Exome Variant Server ESX1_000016 1/10559 0/6725 1/3834 - - - - - - -
?/? c.841C>T r.(?) p.(Arg281Cys) g.103495289G>A Copied from the Exome Variant Server ESX1_000015 262/10559 3/6725 259/3834 - - - - - - -
?/? c.868C>T r.(?) p.(Arg290Cys) g.103495262G>A Copied from the Exome Variant Server ESX1_000014 8/10491 7/6684 1/3807 - - - - - - -
?/? c.871A>G r.(?) p.(Met291Val) g.103495259T>C Copied from the Exome Variant Server ESX1_000013 1/10474 1/6670 0/3804 - - - - - - -
?/? c.939_947del r.(?) p.(Thr314_Pro316del) g.103495183_103495191del Copied from the Exome Variant Server ESX1_000012 77/5138 42/3470 35/1668 - - - - - - -
?/? c.940_948del r.(?) p.(Thr314_Pro316del) g.103495182_103495190del Copied from the Exome Variant Server ESX1_000010 77/5205 41/3509 36/1696 - - - - - - -
?/? c.959C>G r.(?) p.(Pro320Arg) g.103495171G>C Copied from the Exome Variant Server ESX1_000008 184/4750 94/3206 90/1544 - - - - - - -
?/? c.1121C>G r.(?) p.(Pro374Arg) g.103495009G>C Copied from the Exome Variant Server ESX1_000006 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1123C>G r.(?) p.(Leu375Val) g.103495007G>C Copied from the Exome Variant Server ESX1_000011 560/10563 7/6728 553/3835 - - - - - - -
?/? c.1132A>G r.(?) p.(Arg378Gly) g.103494998T>C Copied from the Exome Variant Server ESX1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1183C>G r.(?) p.(Pro395Ala) g.103494947G>C Copied from the Exome Variant Server ESX1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1212C>T r.(=) p.(=) g.103494918G>A Copied from the Exome Variant Server ESX1_000005 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1217T>C r.(?) p.(Phe406Ser) g.103494913A>G Copied from the Exome Variant Server ESX1_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*12C>A r.(=) p.(=) g.103494897G>T Copied from the Exome Variant Server ESX1_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*15A>G r.(=) p.(=) g.103494894T>C Copied from the Exome Variant Server ESX1_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*27A>G r.(=) p.(=) g.103494882T>C Copied from the Exome Variant Server ESX1_000001 1/10563 1/6728 0/3835 - - - - - - -
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