Full data view for gene SAGE1

Information The variants shown are described using the NM_018666.2 transcript reference sequence.

155 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.1-47A>G r.(=) p.(=) g.134978355A>G Copied from the Exome Variant Server SAGE1_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1-24G>A r.(=) p.(=) g.134978378G>A Copied from the Exome Variant Server SAGE1_000076 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1-18T>A r.(=) p.(=) g.134978384T>A Copied from the Exome Variant Server SAGE1_000077 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1-10C>T r.(=) p.(=) g.134978392C>T Copied from the Exome Variant Server SAGE1_000078 2/10563 0/6728 2/3835 - - - - - - -
?/? c.24G>A r.(=) p.(=) g.134978425G>A Copied from the Exome Variant Server SAGE1_000001 2298/10563 1753/6728 545/3835 - - - - - - -
?/? c.53A>G r.(?) p.(His18Arg) g.134978454A>G Copied from the Exome Variant Server SAGE1_000002 2/10563 0/6728 2/3835 - - - - - - -
?/? c.87+13T>C r.(=) p.(=) g.134978501T>C Copied from the Exome Variant Server SAGE1_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.87+44C>T r.(=) p.(=) g.134978532C>T Copied from the Exome Variant Server SAGE1_000004 2/10563 2/6728 0/3835 - - - - - - -
?/? c.88-47G>A r.(=) p.(=) g.134983671G>A Copied from the Exome Variant Server SAGE1_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.93G>T r.(?) p.(Met31Ile) g.134983723G>T Copied from the Exome Variant Server SAGE1_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.191G>A r.(?) p.(Ser64Asn) g.134983821G>A Copied from the Exome Variant Server SAGE1_000007 2/10563 2/6728 0/3835 - - - - - - -
?/? c.200C>T r.(?) p.(Ser67Leu) g.134983830C>T Copied from the Exome Variant Server SAGE1_000008 62/10563 61/6728 1/3835 - - - - - - -
?/? c.221-45A>G r.(=) p.(=) g.134986591A>G Copied from the Exome Variant Server SAGE1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.256A>C r.(?) p.(Ile86Leu) g.134986671A>C Copied from the Exome Variant Server SAGE1_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.281A>G r.(?) p.(Asp94Gly) g.134986696A>G Copied from the Exome Variant Server SAGE1_000011 5/10563 0/6728 5/3835 - - - - - - -
?/? c.285T>C r.(=) p.(=) g.134986700T>C Copied from the Exome Variant Server SAGE1_000012 2312/10563 1755/6728 557/3835 - - - - - - -
?/? c.313+30A>G r.(=) p.(=) g.134986758A>G Copied from the Exome Variant Server SAGE1_000013 2/10563 1/6728 1/3835 - - - - - - -
?/? c.313+39_313+40insG r.(=) p.(=) g.134986767_134986768insG Copied from the Exome Variant Server SAGE1_000014 2082/10192 1578/6472 504/3720 - - - - - - -
?/? c.313+40A>G r.(=) p.(=) g.134986768A>G Copied from the Exome Variant Server SAGE1_000015 69/10524 60/6691 9/3833 - - - - - - -
?/? c.313+41_313+42insGATC r.(=) p.(=) g.134986769_134986770insGATC Copied from the Exome Variant Server SAGE1_000016 100/10023 92/6323 8/3700 - - - - - - -
?/? c.313+42_313+52del r.(=) p.(=) g.134986770_134986780del Copied from the Exome Variant Server SAGE1_000017 1270/10023 923/6323 347/3700 - - - - - - -
?/? c.313+49A>G r.(=) p.(=) g.134986777A>G Copied from the Exome Variant Server SAGE1_000018 2/10364 0/6564 2/3800 - - - - - - -
?/? c.313+52A>T r.(=) p.(=) g.134986780A>T Copied from the Exome Variant Server SAGE1_000019 37/6014 34/3598 3/2416 - - - - - - -
?/? c.314-10C>T r.(=) p.(=) g.134987401C>T Copied from the Exome Variant Server SAGE1_000020 5/10563 4/6728 1/3835 - - - - - - -
?/? c.363A>G r.(=) p.(=) g.134987460A>G Copied from the Exome Variant Server SAGE1_000021 40/10563 0/6728 40/3835 - - - - - - -
?/? c.379G>A r.(?) p.(Val127Ile) g.134987476G>A Copied from the Exome Variant Server SAGE1_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.394C>T r.(?) p.(Pro132Ser) g.134987491C>T Copied from the Exome Variant Server SAGE1_000023 5/10563 0/6728 5/3835 - - - - - - -
?/? c.435C>T r.(=) p.(=) g.134987532C>T Copied from the Exome Variant Server SAGE1_000024 5/10563 4/6728 1/3835 - - - - - - -
?/? c.454+28A>G r.(=) p.(=) g.134987579A>G Copied from the Exome Variant Server SAGE1_000025 2/10563 2/6728 0/3835 - - - - - - -
?/? c.455-45G>A r.(=) p.(=) g.134988138G>A Copied from the Exome Variant Server SAGE1_000079 1/10561 0/6726 1/3835 - - - - - - -
?/? c.467C>G r.(?) p.(Thr156Ser) g.134988195C>G Copied from the Exome Variant Server SAGE1_000080 1/10563 0/6728 1/3835 - - - - - - -
?/? c.469_470insA r.(?) p.(His157Glnfs*5) g.134988197_134988198insA Copied from the Exome Variant Server SAGE1_000081 2/10205 2/6484 0/3721 - - - - - - -
?/? c.515A>T r.(?) p.(Asp172Val) g.134988243A>T Copied from the Exome Variant Server SAGE1_000082 1/10563 1/6728 0/3835 - - - - - - -
?/? c.523T>C r.(=) p.(=) g.134988251T>C Copied from the Exome Variant Server SAGE1_000083 1/10563 0/6728 1/3835 - - - - - - -
?/? c.529A>G r.(?) p.(Thr177Ala) g.134988257A>G Copied from the Exome Variant Server SAGE1_000084 1/10563 1/6728 0/3835 - - - - - - -
?/? c.537C>T r.(=) p.(=) g.134988265C>T Copied from the Exome Variant Server SAGE1_000085 1/10563 0/6728 1/3835 - - - - - - -
?/? c.549T>C r.(=) p.(=) g.134988277T>C Copied from the Exome Variant Server SAGE1_000086 1/10563 1/6728 0/3835 - - - - - - -
?/? c.595+20G>T r.(=) p.(=) g.134988343G>T Copied from the Exome Variant Server SAGE1_000087 1/10563 1/6728 0/3835 - - - - - - -
?/? c.607A>G r.(?) p.(Thr203Ala) g.134988581A>G Copied from the Exome Variant Server SAGE1_000088 5/10563 4/6728 1/3835 - - - - - - -
?/? c.640G>T r.(?) p.(Val214Phe) g.134988614G>T Copied from the Exome Variant Server SAGE1_000089 1/10563 0/6728 1/3835 - - - - - - -
?/? c.645A>G r.(=) p.(=) g.134988619A>G Copied from the Exome Variant Server SAGE1_000090 1/10563 1/6728 0/3835 - - - - - - -
?/? c.664del r.(?) p.(Leu222Cysfs*2) g.134988638del Copied from the Exome Variant Server SAGE1_000091 403/10205 275/6484 128/3721 - - - - - - -
?/? c.689T>C r.(?) p.(Ile230Thr) g.134988663T>C Copied from the Exome Variant Server SAGE1_000092 1/10563 1/6728 0/3835 - - - - - - -
?/? c.707G>A r.(?) p.(Gly236Asp) g.134988681G>A Copied from the Exome Variant Server SAGE1_000093 1/10563 1/6728 0/3835 - - - - - - -
?/? c.736+25G>A r.(=) p.(=) g.134988735G>A Copied from the Exome Variant Server SAGE1_000094 13/10478 0/6677 13/3801 - - - - - - -
?/? c.759C>T r.(=) p.(=) g.134989107C>T Copied from the Exome Variant Server SAGE1_000155 1/10561 1/6726 0/3835 - - - - - - -
?/? c.763G>A r.(?) p.(Glu255Lys) g.134989111G>A Copied from the Exome Variant Server SAGE1_000148 1/10561 1/6726 0/3835 - - - - - - -
?/? c.782G>A r.(?) p.(Gly261Asp) g.134989130G>A Copied from the Exome Variant Server SAGE1_000149 2/10563 0/6728 2/3835 - - - - - - -
?/? c.802A>T r.(?) p.(Ile268Phe) g.134989150A>T Copied from the Exome Variant Server SAGE1_000150 40/10563 0/6728 40/3835 - - - - - - -
?/? c.866C>G r.(?) p.(Thr289Ser) g.134989214C>G Copied from the Exome Variant Server SAGE1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.877+22A>G r.(=) p.(=) g.134989247A>G Copied from the Exome Variant Server SAGE1_000027 2/10563 2/6728 0/3835 - - - - - - -
?/? c.877+24T>C r.(=) p.(=) g.134989249T>C Copied from the Exome Variant Server SAGE1_000028 1/10561 0/6726 1/3835 - - - - - - -
?/? c.878-51G>A r.(=) p.(=) g.134989421G>A Copied from the Exome Variant Server SAGE1_000029 2/10561 0/6726 2/3835 - - - - - - -
?/? c.878-46A>G r.(=) p.(=) g.134989426A>G Copied from the Exome Variant Server SAGE1_000030 1/10561 1/6726 0/3835 - - - - - - -
?/? c.878-39G>A r.(=) p.(=) g.134989433G>A Copied from the Exome Variant Server SAGE1_000031 1/10561 1/6726 0/3835 - - - - - - -
?/? c.878-11_878-9del r.(=) p.(=) g.134989461_134989463del Copied from the Exome Variant Server SAGE1_000032 3/10203 0/6482 3/3721 - - - - - - -
?/? c.902G>A r.(?) p.(Cys301Tyr) g.134989496G>A Copied from the Exome Variant Server SAGE1_000033 2/10561 2/6726 0/3835 - - - - - - -
?/? c.928C>A r.(?) p.(Pro310Thr) g.134989522C>A Copied from the Exome Variant Server SAGE1_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.960A>G r.(=) p.(=) g.134989554A>G Copied from the Exome Variant Server SAGE1_000035 2/10563 2/6728 0/3835 - - - - - - -
?/? c.995C>T r.(?) p.(Pro332Leu) g.134989589C>T Copied from the Exome Variant Server SAGE1_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1018+12T>A r.(=) p.(=) g.134989624T>A Copied from the Exome Variant Server SAGE1_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1018+31G>C r.(=) p.(=) g.134989643G>C Copied from the Exome Variant Server SAGE1_000038 8/10563 0/6728 8/3835 - - - - - - -
?/? c.1019A>G r.(?) p.(Tyr340Cys) g.134989860A>G Copied from the Exome Variant Server SAGE1_000039 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1085C>T r.(?) p.(Ala362Val) g.134989926C>T Copied from the Exome Variant Server SAGE1_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1086C>T r.(=) p.(=) g.134989927C>T Copied from the Exome Variant Server SAGE1_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1096G>A r.(?) p.(Val366Ile) g.134989937G>A Copied from the Exome Variant Server SAGE1_000042 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1106G>A r.(?) p.(Gly369Glu) g.134989947G>A Copied from the Exome Variant Server SAGE1_000043 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1119G>T r.(?) p.(Leu373Phe) g.134989960G>T Copied from the Exome Variant Server SAGE1_000044 41/10563 0/6728 41/3835 - - - - - - -
?/? c.1132A>G r.(?) p.(Met378Val) g.134989973A>G Copied from the Exome Variant Server SAGE1_000045 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1149C>T r.(=) p.(=) g.134989990C>T Copied from the Exome Variant Server SAGE1_000046 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1159C>T r.(?) p.(His387Tyr) g.134990000C>T Copied from the Exome Variant Server SAGE1_000047 721/10561 487/6726 234/3835 - - - - - - -
?/? c.1159+22G>A r.(=) p.(=) g.134990022G>A Copied from the Exome Variant Server SAGE1_000048 12/10561 12/6726 0/3835 - - - - - - -
?/? c.1160-50T>C r.(=) p.(=) g.134990198T>C Copied from the Exome Variant Server SAGE1_000049 54/10561 1/6726 53/3835 - - - - - - -
?/? c.1160-26G>T r.(=) p.(=) g.134990222G>T Copied from the Exome Variant Server SAGE1_000151 14/10560 11/6726 3/3834 - - - - - - -
?/? c.1170C>A r.(=) p.(=) g.134990258C>A Copied from the Exome Variant Server SAGE1_000152 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1176C>T r.(=) p.(=) g.134990264C>T Copied from the Exome Variant Server SAGE1_000153 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1184G>A r.(?) p.(Arg395His) g.134990272G>A Copied from the Exome Variant Server SAGE1_000154 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1191G>A r.(=) p.(=) g.134990279G>A Copied from the Exome Variant Server SAGE1_000143 20/10563 0/6728 20/3835 - - - - - - -
?/? c.1200T>C r.(=) p.(=) g.134990288T>C Copied from the Exome Variant Server SAGE1_000144 19/10563 17/6728 2/3835 - - - - - - -
?/? c.1224C>T r.(=) p.(=) g.134990312C>T Copied from the Exome Variant Server SAGE1_000145 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1260G>T r.(?) p.(Leu420Phe) g.134990348G>T Copied from the Exome Variant Server SAGE1_000146 5/10563 5/6728 0/3835 - - - - - - -
?/? c.1278A>C r.(=) p.(=) g.134990366A>C Copied from the Exome Variant Server SAGE1_000147 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1291A>G r.(?) p.(Arg431Gly) g.134990379A>G Copied from the Exome Variant Server SAGE1_000132 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1292G>C r.(?) p.(Arg431Thr) g.134990380G>C Copied from the Exome Variant Server SAGE1_000133 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1301-51C>T r.(=) p.(=) g.134990585C>T Copied from the Exome Variant Server SAGE1_000134 44/10561 0/6726 44/3835 - - - - - - -
?/? c.1308C>T r.(=) p.(=) g.134990643C>T Copied from the Exome Variant Server SAGE1_000135 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1366G>A r.(?) p.(Val456Ile) g.134990701G>A Copied from the Exome Variant Server SAGE1_000136 8/10563 0/6728 8/3835 - - - - - - -
?/? c.1441+15T>C r.(=) p.(=) g.134990791T>C Copied from the Exome Variant Server SAGE1_000137 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1442-19C>T r.(=) p.(=) g.134991004C>T Copied from the Exome Variant Server SAGE1_000138 10/10563 9/6728 1/3835 - - - - - - -
?/? c.1442-13C>G r.(=) p.(=) g.134991010C>G Copied from the Exome Variant Server SAGE1_000139 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1450A>G r.(?) p.(Ile484Val) g.134991031A>G Copied from the Exome Variant Server SAGE1_000140 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1451T>C r.(?) p.(Ile484Thr) g.134991032T>C Copied from the Exome Variant Server SAGE1_000141 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1497A>G r.(=) p.(=) g.134991078A>G Copied from the Exome Variant Server SAGE1_000142 2314/10563 1754/6728 560/3835 - - - - - - -
?/? c.1582+24T>A r.(=) p.(=) g.134991187T>A Copied from the Exome Variant Server SAGE1_000119 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1582+28A>G r.(=) p.(=) g.134991191A>G Copied from the Exome Variant Server SAGE1_000120 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1582+41A>G r.(=) p.(=) g.134991204A>G Copied from the Exome Variant Server SAGE1_000121 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1583-47A>C r.(=) p.(=) g.134991751A>C Copied from the Exome Variant Server SAGE1_000122 11/10561 0/6726 11/3835 - - - - - - -
?/? c.1583-41T>C r.(=) p.(=) g.134991757T>C Copied from the Exome Variant Server SAGE1_000123 2/10561 2/6726 0/3835 - - - - - - -
?/? c.1583-3C>T r.spl? p.? g.134991795C>T Copied from the Exome Variant Server SAGE1_000124 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1616G>A r.(?) p.(Arg539Lys) g.134991831G>A Copied from the Exome Variant Server SAGE1_000125 1/10563 1/6728 0/3835 - - - - - - -
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