Full data view for gene ARMCX5-GPRASP2

Information The variants shown are described using the NM_001199818.1 transcript reference sequence.

180 entries on 2 pages. Showing entries 1 - 100.
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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.-652+591C>T r.(=) p.(=) g.101857028C>T Copied from the Exome Variant Server ARMCX5_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+642T>C r.(?) p.(Ser4Pro) g.101857079T>C Copied from the Exome Variant Server ARMCX5_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+658G>A r.(?) p.(Arg9Lys) g.101857095G>A Copied from the Exome Variant Server ARMCX5_000003 10/10563 9/6728 1/3835 - - - - - - -
?/? c.-652+827G>A r.(=) p.(=) g.101857264G>A Copied from the Exome Variant Server ARMCX5_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+883C>T r.(?) p.(Thr84Ile) g.101857320C>T Copied from the Exome Variant Server ARMCX5_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+890T>C r.(=) p.(=) g.101857327T>C Copied from the Exome Variant Server ARMCX5_000006 3/10563 2/6728 1/3835 - - - - - - -
?/? c.-652+931G>A r.(?) p.(Arg100His) g.101857368G>A Copied from the Exome Variant Server ARMCX5_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-652+937T>G r.(?) p.(Ile102Arg) g.101857374T>G Copied from the Exome Variant Server ARMCX5_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1088A>G r.(=) p.(=) g.101857525A>G Copied from the Exome Variant Server ARMCX5_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-652+1098A>G r.(?) p.(Thr156Ala) g.101857535A>G Copied from the Exome Variant Server ARMCX5_000012 148/10563 0/6728 148/3835 - - - - - - -
?/? c.-652+1104A>G r.(?) p.(Ile158Val) g.101857541A>G Copied from the Exome Variant Server ARMCX5_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1109G>A r.(=) p.(=) g.101857546G>A Copied from the Exome Variant Server ARMCX5_000016 2/10563 1/6728 1/3835 - - - - - - -
?/? c.-652+1121T>G r.(?) p.(Ser163Arg) g.101857558T>G Copied from the Exome Variant Server ARMCX5_000018 3/10563 3/6728 0/3835 - - - - - - -
?/? c.-652+1140A>T r.(?) p.(Ile170Leu) g.101857577A>T Copied from the Exome Variant Server ARMCX5_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1222A>G r.(?) p.(Tyr197Cys) g.101857659A>G Copied from the Exome Variant Server ARMCX5_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-652+1241C>T r.(=) p.(=) g.101857678C>T Copied from the Exome Variant Server ARMCX5_000009 107/10563 98/6728 9/3835 - - - - - - -
?/? c.-652+1321T>C r.(?) p.(Ile230Thr) g.101857758T>C Copied from the Exome Variant Server ARMCX5_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-652+1360C>T r.(?) p.(Pro243Leu) g.101857797C>T Copied from the Exome Variant Server ARMCX5_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1378C>T r.(?) p.(Thr249Ile) g.101857815C>T Copied from the Exome Variant Server ARMCX5_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-652+1409G>A r.(=) p.(=) g.101857846G>A Copied from the Exome Variant Server ARMCX5_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1431A>T r.(?) p.(Ile267Phe) g.101857868A>T Copied from the Exome Variant Server ARMCX5_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-652+1516C>T r.(?) p.(Pro295Leu) g.101857953C>T Copied from the Exome Variant Server ARMCX5_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1549G>A r.(?) p.(Ser306Asn) g.101857986G>A Copied from the Exome Variant Server ARMCX5_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1630T>C r.(?) p.(Met333Thr) g.101858067T>C Copied from the Exome Variant Server ARMCX5_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1781C>T r.(=) p.(=) g.101858218C>T Copied from the Exome Variant Server ARMCX5_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1817A>G r.(=) p.(=) g.101858254A>G Copied from the Exome Variant Server ARMCX5_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1858T>G r.(?) p.(Val409Gly) g.101858295T>G Copied from the Exome Variant Server ARMCX5_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-652+1871A>G r.(=) p.(=) g.101858308A>G Copied from the Exome Variant Server ARMCX5_000028 193/10563 177/6728 16/3835 - - - - - - -
?/? c.-651-1953A>G r.(?) p.(His463Arg) g.101858457A>G Copied from the Exome Variant Server ARMCX5_000029 1/10562 1/6727 0/3835 - - - - - - -
?/? c.-651-1785A>G r.(?) p.(Lys519Arg) g.101858625A>G Copied from the Exome Variant Server ARMCX5_000030 1/10440 1/6687 0/3753 - - - - - - -
?/? c.-651-1762C>G r.(?) p.(Gln527Glu) g.101858648C>G Copied from the Exome Variant Server ARMCX5_000031 4/10447 4/6675 0/3772 - - - - - - -
?/? c.-651-1706C>T r.(=) p.(=) g.101858704C>T Copied from the Exome Variant Server ARMCX5_000032 146/10552 0/6720 146/3832 - - - - - - -
?/? c.-651-1652T>C r.(=) p.(=) g.101858758T>C Copied from the Exome Variant Server ARMCX5_000033 1/10532 1/6707 0/3825 - - - - - - -
?/? c.-480+48226G>A r.(=) p.(=) g.101908807G>A Copied from the Exome Variant Server GPRASP1_000001 1/10562 1/6727 0/3835 - - - - - - -
?/? c.-480+48281G>A r.(=) p.(=) g.101908862G>A Copied from the Exome Variant Server GPRASP1_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+48315G>T r.(?) p.(Gly19Trp) g.101908896G>T Copied from the Exome Variant Server GPRASP1_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+48324G>A r.(?) p.(Val22Ile) g.101908905G>A Copied from the Exome Variant Server GPRASP1_000006 3/10563 0/6728 3/3835 - - - - - - -
?/? c.-480+48343T>C r.(?) p.(Ile28Thr) g.101908924T>C Copied from the Exome Variant Server GPRASP1_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+48370G>A r.(?) p.(Arg37Lys) g.101908951G>A Copied from the Exome Variant Server GPRASP1_000011 2/10563 0/6728 2/3835 - - - - - - -
?/? c.-480+48390G>C r.(?) p.(Ala44Pro) g.101908971G>C Copied from the Exome Variant Server GPRASP1_000013 138/10563 0/6728 138/3835 - - - - - - -
?/? c.-480+48401G>A r.(?) p.(Met47Ile) g.101908982G>A Copied from the Exome Variant Server GPRASP1_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+48519C>T r.(?) p.(Arg87*) g.101909100C>T Copied from the Exome Variant Server GPRASP1_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+48605T>C r.(=) p.(=) g.101909186T>C Copied from the Exome Variant Server GPRASP1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+48628G>T r.(?) p.(Ser123Ile) g.101909209G>T Copied from the Exome Variant Server GPRASP1_000008 3/10563 2/6728 1/3835 - - - - - - -
?/? c.-480+48639G>C r.(?) p.(Val127Leu) g.101909220G>C Copied from the Exome Variant Server GPRASP1_000010 3/10563 0/6728 3/3835 - - - - - - -
?/? c.-480+48820C>G r.(?) p.(Ser187Cys) g.101909401C>G Copied from the Exome Variant Server GPRASP1_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+48882G>A r.(?) p.(Glu208Lys) g.101909463G>A Copied from the Exome Variant Server GPRASP1_000014 3/10563 3/6728 0/3835 - - - - - - -
?/? c.-480+48997A>G r.(?) p.(Tyr246Cys) g.101909578A>G Copied from the Exome Variant Server GPRASP1_000015 3/10563 0/6728 3/3835 - - - - - - -
?/? c.-480+49018C>A r.(?) p.(Ser253Tyr) g.101909599C>A Copied from the Exome Variant Server GPRASP1_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+49039C>T r.(?) p.(Thr260Ile) g.101909620C>T Copied from the Exome Variant Server GPRASP1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+49043C>G r.(=) p.(=) g.101909624C>G Copied from the Exome Variant Server GPRASP1_000018 5/10563 5/6728 0/3835 - - - - - - -
?/? c.-480+49067C>T r.(=) p.(=) g.101909648C>T Copied from the Exome Variant Server GPRASP1_000019 11/10563 0/6728 11/3835 - - - - - - -
?/? c.-480+49076G>T r.(?) p.(Trp272Cys) g.101909657G>T Copied from the Exome Variant Server GPRASP1_000020 12/10563 0/6728 12/3835 - - - - - - -
?/? c.-480+49094T>G r.(?) p.(Asp278Glu) g.101909675T>G Copied from the Exome Variant Server GPRASP1_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+49204C>G r.(?) p.(Ala315Gly) g.101909785C>G Copied from the Exome Variant Server GPRASP1_000022 445/10563 412/6728 33/3835 - - - - - - -
?/? c.-480+49205C>T r.(=) p.(=) g.101909786C>T Copied from the Exome Variant Server GPRASP1_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+49232G>A r.(=) p.(=) g.101909813G>A Copied from the Exome Variant Server GPRASP1_000024 2/10563 2/6728 0/3835 - - - - - - -
?/? c.-480+49368A>T r.(?) p.(Met370Leu) g.101909949A>T Copied from the Exome Variant Server GPRASP1_000025 2/10557 2/6724 0/3833 - - - - - - -
?/? c.-480+49429G>A r.(?) p.(Arg390Gln) g.101910010G>A Copied from the Exome Variant Server GPRASP1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+49467G>T r.(?) p.(Ala403Ser) g.101910048G>T Copied from the Exome Variant Server GPRASP1_000027 41/10563 0/6728 41/3835 - - - - - - -
?/? c.-480+49499C>T r.(=) p.(=) g.101910080C>T Copied from the Exome Variant Server GPRASP1_000028 3/10563 0/6728 3/3835 - - - - - - -
?/? c.-480+49591A>G r.(?) p.(Glu444Gly) g.101910172A>G Copied from the Exome Variant Server GPRASP1_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+49807C>G r.(?) p.(Thr516Ser) g.101910388C>G Copied from the Exome Variant Server GPRASP1_000030 4/10563 4/6728 0/3835 - - - - - - -
?/? c.-480+49896G>A r.(?) p.(Glu546Lys) g.101910477G>A Copied from the Exome Variant Server GPRASP1_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+49938G>A r.(?) p.(Val560Ile) g.101910519G>A Copied from the Exome Variant Server GPRASP1_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+49945T>C r.(?) p.(Ile562Thr) g.101910526T>C Copied from the Exome Variant Server GPRASP1_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+49946A>G r.(?) p.(Ile562Met) g.101910527A>G Copied from the Exome Variant Server GPRASP1_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+49958C>T r.(=) p.(=) g.101910539C>T Copied from the Exome Variant Server GPRASP1_000035 3/10563 3/6728 0/3835 - - - - - - -
?/? c.-480+50014G>C r.(?) p.(Trp585Ser) g.101910595G>C Copied from the Exome Variant Server GPRASP1_000036 2/10563 2/6728 0/3835 - - - - - - -
?/? c.-480+50041G>A r.(?) p.(Cys594Tyr) g.101910622G>A Copied from the Exome Variant Server GPRASP1_000037 8/10563 8/6728 0/3835 - - - - - - -
?/? c.-480+50043A>G r.(?) p.(Arg595Gly) g.101910624A>G Copied from the Exome Variant Server GPRASP1_000038 7/10563 1/6728 6/3835 - - - - - - -
?/? c.-480+50112T>C r.(?) p.(Trp618Arg) g.101910693T>C Copied from the Exome Variant Server GPRASP1_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+50168G>A r.(=) p.(=) g.101910749G>A Copied from the Exome Variant Server GPRASP1_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+50188T>C r.(?) p.(Ile643Thr) g.101910769T>C Copied from the Exome Variant Server GPRASP1_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+50218G>A r.(?) p.(Ser653Asn) g.101910799G>A Copied from the Exome Variant Server GPRASP1_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+50236G>A r.(?) p.(Gly659Asp) g.101910817G>A Copied from the Exome Variant Server GPRASP1_000043 27/10563 0/6728 27/3835 - - - - - - -
?/? c.-480+50281A>C r.(?) p.(Lys674Thr) g.101910862A>C Copied from the Exome Variant Server GPRASP1_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+50377C>T r.(?) p.(Ser706Leu) g.101910958C>T Copied from the Exome Variant Server GPRASP1_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+50422G>A r.(?) p.(Gly721Glu) g.101911003G>A Copied from the Exome Variant Server GPRASP1_000046 3/10563 2/6728 1/3835 - - - - - - -
?/? c.-480+50592A>G r.(?) p.(Ile778Val) g.101911173A>G Copied from the Exome Variant Server GPRASP1_000047 2/10563 0/6728 2/3835 - - - - - - -
?/? c.-480+50632T>C r.(?) p.(Leu791Pro) g.101911213T>C Copied from the Exome Variant Server GPRASP1_000048 9/10563 9/6728 0/3835 - - - - - - -
?/? c.-480+50706G>T r.(?) p.(Gly816Trp) g.101911287G>T Copied from the Exome Variant Server GPRASP1_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+50739G>C r.(?) p.(Gly827Arg) g.101911320G>C Copied from the Exome Variant Server GPRASP1_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+50750C>A r.(?) p.(Ser830Arg) g.101911331C>A Copied from the Exome Variant Server GPRASP1_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+50756C>T r.(=) p.(=) g.101911337C>T Copied from the Exome Variant Server GPRASP1_000052 96/10563 81/6728 15/3835 - - - - - - -
?/? c.-480+50813G>A r.(=) p.(=) g.101911394G>A Copied from the Exome Variant Server GPRASP1_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+50923A>C r.(?) p.(Gln888Pro) g.101911504A>C Copied from the Exome Variant Server GPRASP1_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+50975C>A r.(=) p.(=) g.101911556C>A Copied from the Exome Variant Server GPRASP1_000055 2/10563 0/6728 2/3835 - - - - - - -
?/? c.-480+51007A>C r.(?) p.(Glu916Ala) g.101911588A>C Copied from the Exome Variant Server GPRASP1_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+51183G>C r.(?) p.(Ala975Pro) g.101911764G>C Copied from the Exome Variant Server GPRASP1_000057 4/10563 4/6728 0/3835 - - - - - - -
?/? c.-480+51199A>G r.(?) p.(Asp980Gly) g.101911780A>G Copied from the Exome Variant Server GPRASP1_000058 4/10563 3/6728 1/3835 - - - - - - -
?/? c.-480+51320C>G r.(=) p.(=) g.101911901C>G Copied from the Exome Variant Server GPRASP1_000059 3/10563 3/6728 0/3835 - - - - - - -
?/? c.-480+51397A>G r.(?) p.(Glu1046Gly) g.101911978A>G Copied from the Exome Variant Server GPRASP1_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+51414T>G r.(?) p.(Phe1052Val) g.101911995T>G Copied from the Exome Variant Server GPRASP1_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+51438G>C r.(?) p.(Val1060Leu) g.101912019G>C Copied from the Exome Variant Server GPRASP1_000062 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+51473G>A r.(=) p.(=) g.101912054G>A Copied from the Exome Variant Server GPRASP1_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+51525A>G r.(?) p.(Met1089Val) g.101912106A>G Copied from the Exome Variant Server GPRASP1_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-480+51537C>T r.(?) p.(Pro1093Ser) g.101912118C>T Copied from the Exome Variant Server GPRASP1_000065 757/10563 22/6728 735/3835 - - - - - - -
?/? c.-480+51626C>G r.(=) p.(=) g.101912207C>G Copied from the Exome Variant Server GPRASP1_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-480+51683C>T r.(=) p.(=) g.101912264C>T Copied from the Exome Variant Server GPRASP1_000067 1/10563 1/6728 0/3835 - - - - - - -
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