All transcript variants in gene EPHA5

Information The variants shown are described using the NM_004439.5 transcript reference sequence.

169 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     
?/? c.78G>C r.(=) p.(=) g.66535383C>G Copied from the Exome Variant Server EPHA5_000169 1/12716 1/8458 0/4258
?/? c.109C>A r.(=) p.(=) g.66535352G>T Copied from the Exome Variant Server EPHA5_000168 3/12956 3/8582 0/4374
?/? c.145G>T r.(?) p.(Ala49Ser) g.66535316C>A Copied from the Exome Variant Server EPHA5_000167 1/12924 1/8556 0/4368
?/? c.177C>T r.(=) p.(=) g.66535284G>A Copied from the Exome Variant Server EPHA5_000166 2152/12860 1687/8526 465/4334
?/? c.181+15G>A r.(=) p.(=) g.66535265C>T Copied from the Exome Variant Server EPHA5_000165 19/12870 17/8514 2/4356
?/? c.182-49A>G r.(=) p.(=) g.66509194T>C Copied from the Exome Variant Server EPHA5_000164 7676/12964 5167/8580 2509/4384
?/? c.182-22T>A r.(=) p.(=) g.66509167A>T Copied from the Exome Variant Server EPHA5_000163 1/12996 0/8594 1/4402
?/? c.193G>T r.(?) p.(Asp65Tyr) g.66509134C>A Copied from the Exome Variant Server EPHA5_000162 3/13004 0/8598 3/4406
?/? c.200G>A r.(?) p.(Arg67His) g.66509127C>T Copied from the Exome Variant Server EPHA5_000161 1/13004 1/8598 0/4406
?/? c.201C>T r.(=) p.(=) g.66509126G>A Copied from the Exome Variant Server EPHA5_000160 1/13004 1/8598 0/4406
?/? c.242A>C r.(?) p.(Asn81Thr) g.66509085T>G Copied from the Exome Variant Server EPHA5_000159 611/13004 550/8598 61/4406
?/? c.246+8T>A r.(=) p.(=) g.66509073A>T Copied from the Exome Variant Server EPHA5_000158 2/13002 2/8598 0/4404
?/? c.246+41C>A r.(=) p.(=) g.66509040G>T Copied from the Exome Variant Server EPHA5_000157 146/13004 1/8598 145/4406
?/? c.247-45T>C r.(=) p.(=) g.66468067A>G Copied from the Exome Variant Server EPHA5_000156 4/12290 0/8362 4/3928
?/? c.247-25del r.(=) p.(=) g.66468047del Copied from the Exome Variant Server EPHA5_000155 10341/11900 7354/8060 2987/3840
?/? c.247-13T>C r.(=) p.(=) g.66468035A>G Copied from the Exome Variant Server EPHA5_000154 2/12810 0/8558 2/4252
?/? c.247-5T>C r.spl? p.? g.66468027A>G Copied from the Exome Variant Server EPHA5_000153 16/12990 0/8598 16/4392
?/? c.285T>C r.(=) p.(=) g.66467984A>G Copied from the Exome Variant Server EPHA5_000152 18/13006 17/8600 1/4406
?/? c.301G>A r.(?) p.(Val101Ile) g.66467968C>T Copied from the Exome Variant Server EPHA5_000151 1/13006 1/8600 0/4406
?/? c.459G>A r.(?) p.(Met153Ile) g.66467810C>T Copied from the Exome Variant Server EPHA5_000150 1/13006 1/8600 0/4406
?/? c.468T>A r.(?) p.(Phe156Leu) g.66467801A>T Copied from the Exome Variant Server EPHA5_000149 2/13006 1/8600 1/4406
?/? c.500A>G r.(?) p.(Lys167Arg) g.66467769T>C Copied from the Exome Variant Server EPHA5_000148 1/13006 0/8600 1/4406
?/? c.537C>T r.(=) p.(=) g.66467732G>A Copied from the Exome Variant Server EPHA5_000147 176/13006 1/8600 175/4406
?/? c.684A>T r.(=) p.(=) g.66467585T>A Copied from the Exome Variant Server EPHA5_000146 1/13006 0/8600 1/4406
?/? c.713G>A r.(?) p.(Arg238Gln) g.66467556C>T Copied from the Exome Variant Server EPHA5_000145 4/13006 4/8600 0/4406
?/? c.762A>G r.(=) p.(=) g.66467507T>C Copied from the Exome Variant Server EPHA5_000144 1/13006 1/8600 0/4406
?/? c.780C>T r.(=) p.(=) g.66467489G>A Copied from the Exome Variant Server EPHA5_000143 8/13006 0/8600 8/4406
?/? c.787G>A r.(?) p.(Val263Ile) g.66467482C>T Copied from the Exome Variant Server EPHA5_000142 1/13006 1/8600 0/4406
?/? c.831C>T r.(=) p.(=) g.66467438G>A Copied from the Exome Variant Server EPHA5_000141 1/13006 1/8600 0/4406
?/? c.835G>A r.(?) p.(Glu279Lys) g.66467434C>T Copied from the Exome Variant Server EPHA5_000140 1/13006 0/8600 1/4406
?/? c.885T>C r.(=) p.(=) g.66467384A>G Copied from the Exome Variant Server EPHA5_000139 8/13006 0/8600 8/4406
?/? c.910+49C>T r.(=) p.(=) g.66467310G>A Copied from the Exome Variant Server EPHA5_000138 1/13006 0/8600 1/4406
?/? c.924G>A r.(=) p.(=) g.66361248C>T Copied from the Exome Variant Server EPHA5_000137 1/13006 1/8600 0/4406
?/? c.947T>C r.(?) p.(Ile316Thr) g.66361225A>G Copied from the Exome Variant Server EPHA5_000136 1/13006 0/8600 1/4406
?/? c.958G>T r.(?) p.(Gly320Cys) g.66361214C>A Copied from the Exome Variant Server EPHA5_000135 1/13006 0/8600 1/4406
?/? c.967C>A r.(?) p.(Pro323Thr) g.66361205G>T Copied from the Exome Variant Server EPHA5_000134 1/13006 0/8600 1/4406
?/? c.1043A>G r.(?) p.(Asp348Gly) g.66361129T>C Copied from the Exome Variant Server EPHA5_000133 1/13006 1/8600 0/4406
?/? c.1054A>G r.(?) p.(Met352Val) g.66361118T>C Copied from the Exome Variant Server EPHA5_000132 1/13006 0/8600 1/4406
?/? c.1066+14C>G r.(=) p.(=) g.66361092G>C Copied from the Exome Variant Server EPHA5_000131 1/13006 1/8600 0/4406
?/? c.1066+15G>A r.(=) p.(=) g.66361091C>T Copied from the Exome Variant Server EPHA5_000130 1/13006 1/8600 0/4406
?/? c.1066+19A>T r.(=) p.(=) g.66361087T>A Copied from the Exome Variant Server EPHA5_000129 2/13006 2/8600 0/4406
?/? c.1066+24G>A r.(=) p.(=) g.66361082C>T Copied from the Exome Variant Server EPHA5_000128 32/13006 0/8600 32/4406
?/? c.1066+33A>G r.(=) p.(=) g.66361073T>C Copied from the Exome Variant Server EPHA5_000127 15/13006 0/8600 15/4406
?/? c.1066+42A>G r.(=) p.(=) g.66361064T>C Copied from the Exome Variant Server EPHA5_000126 5/13006 4/8600 1/4406
?/? c.1066+43G>T r.(=) p.(=) g.66361063C>A Copied from the Exome Variant Server EPHA5_000125 1/13006 0/8600 1/4406
?/? c.1066+51G>T r.(=) p.(=) g.66361055C>A Copied from the Exome Variant Server EPHA5_000124 2/13006 0/8600 2/4406
?/? c.1067-38C>T r.(=) p.(=) g.66356468G>A Copied from the Exome Variant Server EPHA5_000123 2/12976 2/8572 0/4404
?/? c.1093A>G r.(?) p.(Ile365Val) g.66356404T>C Copied from the Exome Variant Server EPHA5_000122 1/13006 1/8600 0/4406
?/? c.1226G>A r.(?) p.(Gly409Asp) g.66356271C>T Copied from the Exome Variant Server EPHA5_000121 2/13006 1/8600 1/4406
?/? c.1250G>A r.(?) p.(Arg417Gln) g.66356247C>T Copied from the Exome Variant Server EPHA5_000120 2/13006 1/8600 1/4406
?/? c.1258G>A r.(?) p.(Gly420Ser) g.66356239C>T Copied from the Exome Variant Server EPHA5_000119 1/13006 1/8600 0/4406
?/? c.1265A>T r.(?) p.(Lys422Ile) g.66356232T>A Copied from the Exome Variant Server EPHA5_000118 1/13006 0/8600 1/4406
?/? c.1296C>T r.(=) p.(=) g.66356201G>A Copied from the Exome Variant Server EPHA5_000117 1/13006 1/8600 0/4406
?/? c.1338A>C r.(=) p.(=) g.66356159T>G Copied from the Exome Variant Server EPHA5_000116 6/13006 0/8600 6/4406
?/? c.1344C>T r.(=) p.(=) g.66356153G>A Copied from the Exome Variant Server EPHA5_000115 1/13006 0/8600 1/4406
?/? c.1345G>A r.(?) p.(Asp449Asn) g.66356152C>T Copied from the Exome Variant Server EPHA5_000114 1/13006 0/8600 1/4406
?/? c.1348T>G r.(?) p.(Leu450Val) g.66356149A>C Copied from the Exome Variant Server EPHA5_000113 1/13006 0/8600 1/4406
?/? c.1389C>G r.(=) p.(=) g.66356108G>C Copied from the Exome Variant Server EPHA5_000112 1/13006 0/8600 1/4406
?/? c.1402+4A>C r.spl? p.? g.66356091T>G Copied from the Exome Variant Server EPHA5_000111 1/13006 0/8600 1/4406
?/? c.1402+10A>G r.(=) p.(=) g.66356085T>C Copied from the Exome Variant Server EPHA5_000110 2/13006 1/8600 1/4406
?/? c.1402+23T>C r.(=) p.(=) g.66356072A>G Copied from the Exome Variant Server EPHA5_000109 1/13004 1/8598 0/4406
?/? c.1403-31C>A r.(=) p.(=) g.66286314G>T Copied from the Exome Variant Server EPHA5_000108 62/13006 0/8600 62/4406
?/? c.1406C>T r.(?) p.(Pro469Leu) g.66286280G>A Copied from the Exome Variant Server EPHA5_000107 1/13006 0/8600 1/4406
?/? c.1412C>T r.(?) p.(Pro471Leu) g.66286274G>A Copied from the Exome Variant Server EPHA5_000106 1/13006 1/8600 0/4406
?/? c.1415T>G r.(?) p.(Val472Gly) g.66286271A>C Copied from the Exome Variant Server EPHA5_000105 1/13006 1/8600 0/4406
?/? c.1466G>A r.(?) p.(Trp489*) g.66286220C>T Copied from the Exome Variant Server EPHA5_000102 1/13006 0/8600 1/4406
?/? c.1480C>T r.(?) p.(Arg494Cys) g.66286206G>A Copied from the Exome Variant Server EPHA5_000101 3/13006 3/8600 0/4406
?/? c.1494C>T r.(=) p.(=) g.66286192G>A Copied from the Exome Variant Server EPHA5_000098 1/13006 1/8600 0/4406
?/? c.1528-20A>G r.(=) p.(=) g.66280181T>C Copied from the Exome Variant Server EPHA5_000097 1/13006 1/8600 0/4406
?/? c.1528-18A>G r.(=) p.(=) g.66280179T>C Copied from the Exome Variant Server EPHA5_000104 1/13006 1/8600 0/4406
?/? c.1528-10G>A r.(=) p.(=) g.66280171C>T Copied from the Exome Variant Server EPHA5_000103 1471/13006 1289/8600 182/4406
?/? c.1548G>A r.(=) p.(=) g.66280141C>T Copied from the Exome Variant Server EPHA5_000100 1/13006 1/8600 0/4406
?/? c.1582G>C r.(?) p.(Glu528Gln) g.66280107C>G Copied from the Exome Variant Server EPHA5_000099 73/13006 0/8600 73/4406
?/? c.1584G>A r.(=) p.(=) g.66280105C>T Copied from the Exome Variant Server EPHA5_000096 2/13006 2/8600 0/4406
?/? c.1602A>G r.(=) p.(=) g.66280087T>C Copied from the Exome Variant Server EPHA5_000095 1/13006 0/8600 1/4406
?/? c.1665T>C r.(=) p.(=) g.66280024A>G Copied from the Exome Variant Server EPHA5_000094 1/13006 0/8600 1/4406
?/? c.1687+16T>G r.(=) p.(=) g.66279986A>C Copied from the Exome Variant Server EPHA5_000093 1/13006 1/8600 0/4406
?/? c.1687+20G>A r.(=) p.(=) g.66279982C>T Copied from the Exome Variant Server EPHA5_000092 3/13006 0/8600 3/4406
?/? c.1688-47T>C r.(=) p.(=) g.66270241A>G Copied from the Exome Variant Server EPHA5_000091 2292/13006 1428/8600 864/4406
?/? c.1688-24A>C r.(=) p.(=) g.66270218T>G Copied from the Exome Variant Server EPHA5_000090 1/13006 0/8600 1/4406
?/? c.1688-15A>G r.(=) p.(=) g.66270209T>C Copied from the Exome Variant Server EPHA5_000089 1/13006 1/8600 0/4406
?/? c.1690G>A r.(?) p.(Ala564Thr) g.66270192C>T Copied from the Exome Variant Server EPHA5_000088 1/13006 1/8600 0/4406
?/? c.1699A>G r.(?) p.(Ser567Gly) g.66270183T>C Copied from the Exome Variant Server EPHA5_000087 1/13006 1/8600 0/4406
?/? c.1726G>T r.(?) p.(Ala576Ser) g.66270156C>A Copied from the Exome Variant Server EPHA5_000086 3/13006 0/8600 3/4406
?/? c.1735G>A r.(?) p.(Val579Met) g.66270147C>T Copied from the Exome Variant Server EPHA5_000085 1/13006 0/8600 1/4406
?/? c.1760C>T r.(?) p.(Ala587Val) g.66270122G>A Copied from the Exome Variant Server EPHA5_000084 1/13006 0/8600 1/4406
?/? c.1790+27G>A r.(=) p.(=) g.66270065C>T Copied from the Exome Variant Server EPHA5_000083 4/13006 4/8600 0/4406
?/? c.1790+32G>T r.(=) p.(=) g.66270060C>A Copied from the Exome Variant Server EPHA5_000082 1/13006 0/8600 1/4406
?/? c.1790+51C>T r.(=) p.(=) g.66270041G>A Copied from the Exome Variant Server EPHA5_000081 1/13006 1/8600 0/4406
?/? c.1798G>A r.(?) p.(Glu600Lys) g.66242774C>T Copied from the Exome Variant Server EPHA5_000080 3/13006 3/8600 0/4406
?/? c.1856+29A>G r.(=) p.(=) g.66242687T>C Copied from the Exome Variant Server EPHA5_000079 1/13006 0/8600 1/4406
?/? c.1856+47T>C r.(=) p.(=) g.66242669A>G Copied from the Exome Variant Server EPHA5_000078 1/13006 1/8600 0/4406
?/? c.1856+55C>T r.(=) p.(=) g.66242661G>A Copied from the Exome Variant Server EPHA5_000077 59/4566 1/3182 58/1384
?/? c.1856+56G>A r.(=) p.(=) g.66242660C>T Copied from the Exome Variant Server EPHA5_000076 1/4566 0/3182 1/1384
?/? c.1857-3C>T r.spl? p.? g.66233145G>A Copied from the Exome Variant Server EPHA5_000075 1/13006 1/8600 0/4406
?/? c.1858C>A r.(=) p.(=) g.66233141G>T Copied from the Exome Variant Server EPHA5_000074 1/13006 0/8600 1/4406
?/? c.1860G>A r.(=) p.(=) g.66233139C>T Copied from the Exome Variant Server EPHA5_000073 1/13006 1/8600 0/4406
?/? c.1866C>A r.(=) p.(=) g.66233133G>T Copied from the Exome Variant Server EPHA5_000072 2/13006 0/8600 2/4406
?/? c.1923C>T r.(=) p.(=) g.66233076G>A Copied from the Exome Variant Server EPHA5_000071 1/13006 1/8600 0/4406
?/? c.1924+20T>A r.(=) p.(=) g.66233055A>T Copied from the Exome Variant Server EPHA5_000070 7/13002 5/8596 2/4406
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