Full data view for gene THBS3

Information The variants shown are described using the NM_007112.4 transcript reference sequence.

204 entries on 3 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.-26C>T r.(=) p.(=) g.155177693G>A Copied from the Exome Variant Server THBS3_000200 1/13004 1/8600 0/4404 - - - - - - -
?/? c.10C>A r.(?) p.(Gln4Lys) g.155177658G>T Copied from the Exome Variant Server THBS3_000199 1/13006 0/8600 1/4406 - - - - - - -
?/? c.40C>T r.(?) p.(Leu14Phe) g.155177628G>A Copied from the Exome Variant Server THBS3_000198 1/13006 1/8600 0/4406 - - - - - - -
?/? c.42_44del r.(?) p.(Leu15del) g.155177624_155177626del Copied from the Exome Variant Server THBS3_000197 1/12520 0/8254 1/4266 - - - - - - -
?/? c.46T>C r.(?) p.(Cys16Arg) g.155177622A>G Copied from the Exome Variant Server THBS3_000196 1/13006 1/8600 0/4406 - - - - - - -
?/? c.70G>T r.(?) p.(Asp24Tyr) g.155177598C>A Copied from the Exome Variant Server THBS3_000195 1/13006 1/8600 0/4406 - - - - - - -
?/? c.74T>C r.(?) p.(Leu25Pro) g.155177594A>G Copied from the Exome Variant Server THBS3_000194 1/13006 1/8600 0/4406 - - - - - - -
?/? c.79+5G>A r.spl? p.? g.155177584C>T Copied from the Exome Variant Server THBS3_000193 1/13006 1/8600 0/4406 - - - - - - -
?/? c.79+39C>T r.(=) p.(=) g.155177550G>A Copied from the Exome Variant Server THBS3_000192 1/13006 0/8600 1/4406 - - - - - - -
?/? c.80-50C>T r.(=) p.(=) g.155176247G>A Copied from the Exome Variant Server THBS3_000191 66/13006 1/8600 65/4406 - - - - - - -
?/? c.120A>G r.(=) p.(=) g.155176157T>C Copied from the Exome Variant Server THBS3_000190 1/13006 1/8600 0/4406 - - - - - - -
?/? c.166A>G r.(?) p.(Ile56Val) g.155176111T>C Copied from the Exome Variant Server THBS3_000188 1/13006 0/8600 1/4406 - - - - - - -
?/? c.174C>T r.(=) p.(=) g.155176103G>A Copied from the Exome Variant Server THBS3_000186 1/13006 1/8600 0/4406 - - - - - - -
?/? c.182C>T r.(?) p.(Thr61Ile) g.155176095G>A Copied from the Exome Variant Server THBS3_000184 1/13006 1/8600 0/4406 - - - - - - -
?/? c.188G>A r.(?) p.(Arg63His) g.155176089C>T Copied from the Exome Variant Server THBS3_000182 3/13006 3/8600 0/4406 - - - - - - -
?/? c.193C>T r.(?) p.(Pro65Ser) g.155176084G>A Copied from the Exome Variant Server THBS3_000180 1/13006 0/8600 1/4406 - - - - - - -
?/? c.197C>G r.(?) p.(Pro66Arg) g.155176080G>C Copied from the Exome Variant Server THBS3_000178 4/13006 4/8600 0/4406 - - - - - - -
?/? c.232C>T r.(?) p.(Arg78Cys) g.155176045G>A Copied from the Exome Variant Server THBS3_000176 2/13006 2/8600 0/4406 - - - - - - -
?/? c.233G>A r.(?) p.(Arg78His) g.155176044C>T Copied from the Exome Variant Server THBS3_000174 1/13006 1/8600 0/4406 - - - - - - -
?/? c.285del r.(?) p.(Val96Tyrfs*15) g.155175992del Copied from the Exome Variant Server THBS3_000172 4/12520 4/8254 0/4266 - - - - - - -
?/? c.287-51G>A r.(=) p.(=) g.155175158C>T Copied from the Exome Variant Server THBS3_000170 6/13006 0/8600 6/4406 - - - - - - -
?/? c.287-29C>A r.(=) p.(=) g.155175136G>T Copied from the Exome Variant Server THBS3_000168 2/13006 2/8600 0/4406 - - - - - - -
?/? c.287-28G>A r.(=) p.(=) g.155175135C>T Copied from the Exome Variant Server THBS3_000166 14/13006 11/8600 3/4406 - - - - - - -
?/? c.287-14C>T r.(=) p.(=) g.155175121G>A Copied from the Exome Variant Server THBS3_000164 1/13006 0/8600 1/4406 - - - - - - -
?/? c.295C>T r.(?) p.(Arg99*) g.155175099G>A Copied from the Exome Variant Server THBS3_000189 1/13006 1/8600 0/4406 - - - - - - -
?/? c.305G>A r.(?) p.(Arg102Gln) g.155175089C>T Copied from the Exome Variant Server THBS3_000187 213/13006 191/8600 22/4406 - - - - - - -
?/? c.327C>T r.(=) p.(=) g.155175067G>A Copied from the Exome Variant Server THBS3_000185 2/13006 2/8600 0/4406 - - - - - - -
?/? c.337C>T r.(?) p.(Gln113*) g.155175057G>A Copied from the Exome Variant Server THBS3_000183 1/13006 1/8600 0/4406 - - - - - - -
?/? c.372A>G r.(=) p.(=) g.155175022T>C Copied from the Exome Variant Server THBS3_000181 2/13006 2/8600 0/4406 - - - - - - -
?/? c.454G>A r.(?) p.(Ala152Thr) g.155174940C>T Copied from the Exome Variant Server THBS3_000179 1/13006 1/8600 0/4406 - - - - - - -
?/? c.466G>A r.(?) p.(Ala156Thr) g.155174928C>T Copied from the Exome Variant Server THBS3_000177 1/13006 1/8600 0/4406 - - - - - - -
?/? c.478A>G r.(?) p.(Ile160Val) g.155174916T>C Copied from the Exome Variant Server THBS3_000175 1/13006 1/8600 0/4406 - - - - - - -
?/? c.498T>C r.(=) p.(=) g.155174896A>G Copied from the Exome Variant Server THBS3_000173 1/13006 1/8600 0/4406 - - - - - - -
?/? c.543+18T>C r.(=) p.(=) g.155174833A>G Copied from the Exome Variant Server THBS3_000171 2/13006 2/8600 0/4406 - - - - - - -
?/? c.543+43G>C r.(=) p.(=) g.155174808C>G Copied from the Exome Variant Server THBS3_000169 1/13006 1/8600 0/4406 - - - - - - -
?/? c.543+44C>T r.(=) p.(=) g.155174807G>A Copied from the Exome Variant Server THBS3_000167 1/13006 0/8600 1/4406 - - - - - - -
?/? c.615A>G r.(=) p.(=) g.155174677T>C Copied from the Exome Variant Server THBS3_000165 1/13006 0/8600 1/4406 - - - - - - -
?/? c.627C>T r.(=) p.(=) g.155174665G>A Copied from the Exome Variant Server THBS3_000163 2/13006 1/8600 1/4406 - - - - - - -
?/? c.647-44C>T r.(=) p.(=) g.155173374G>A Copied from the Exome Variant Server THBS3_000161 133/12998 126/8596 7/4402 - - - - - - -
?/? c.647-27C>T r.(=) p.(=) g.155173357G>A Copied from the Exome Variant Server THBS3_000203 27/13000 24/8598 3/4402 - - - - - - -
?/? c.647-8_647-6del r.(=) p.(=) g.155173336_155173338del Copied from the Exome Variant Server THBS3_000159 28/12516 0/8252 28/4264 - - - - - - -
?/? c.670C>G r.(?) p.(Leu224Val) g.155173307G>C Copied from the Exome Variant Server THBS3_000202 1/13004 0/8600 1/4404 - - - - - - -
?/? c.673+11C>T r.(=) p.(=) g.155173293G>A Copied from the Exome Variant Server THBS3_000155 1/13000 0/8596 1/4404 - - - - - - -
?/? c.673+21C>T r.(=) p.(=) g.155173283G>A Copied from the Exome Variant Server THBS3_000153 2/13000 1/8596 1/4404 - - - - - - -
?/? c.673+22G>A r.(=) p.(=) g.155173282C>T Copied from the Exome Variant Server THBS3_000151 1/13000 0/8596 1/4404 - - - - - - -
?/? c.673+28G>T r.(=) p.(=) g.155173276C>A Copied from the Exome Variant Server THBS3_000149 20/13000 0/8596 20/4404 - - - - - - -
?/? c.673+34C>T r.(=) p.(=) g.155173270G>A Copied from the Exome Variant Server THBS3_000147 1/13002 1/8598 0/4404 - - - - - - -
?/? c.673+35G>A r.(=) p.(=) g.155173269C>T Copied from the Exome Variant Server THBS3_000145 3/13004 1/8600 2/4404 - - - - - - -
?/? c.674-15C>A r.(=) p.(=) g.155173111G>T Copied from the Exome Variant Server THBS3_000201 2/13004 2/8600 0/4404 - - - - - - -
?/? c.674-12G>T r.(=) p.(=) g.155173108C>A Copied from the Exome Variant Server THBS3_000162 1/13004 1/8600 0/4404 - - - - - - -
?/? c.674G>A r.(?) p.(Gly225Glu) g.155173096C>T Copied from the Exome Variant Server THBS3_000160 1/13004 1/8600 0/4404 - - - - - - -
?/? c.675G>A r.(=) p.(=) g.155173095C>T Copied from the Exome Variant Server THBS3_000158 4/13004 4/8600 0/4404 - - - - - - -
?/? c.702A>G r.(=) p.(=) g.155173068T>C Copied from the Exome Variant Server THBS3_000157 1/13004 1/8600 0/4404 - - - - - - -
?/? c.742G>A r.(?) p.(Asp248Asn) g.155173028C>T Copied from the Exome Variant Server THBS3_000156 1/13006 1/8600 0/4406 - - - - - - -
?/? c.749G>A r.(?) p.(Arg250Gln) g.155173021C>T Copied from the Exome Variant Server THBS3_000154 1/13006 0/8600 1/4406 - - - - - - -
?/? c.756+3T>C r.spl? p.? g.155173011A>G Copied from the Exome Variant Server THBS3_000152 1/13006 1/8600 0/4406 - - - - - - -
?/? c.757-34T>C r.(=) p.(=) g.155172962A>G Copied from the Exome Variant Server THBS3_000150 1/13006 1/8600 0/4406 - - - - - - -
?/? c.757-24T>A r.(=) p.(=) g.155172952A>T Copied from the Exome Variant Server THBS3_000148 1/13006 1/8600 0/4406 - - - - - - -
?/? c.757-4C>G r.spl? p.? g.155172932G>C Copied from the Exome Variant Server THBS3_000146 5/13006 0/8600 5/4406 - - - - - - -
?/? c.808G>A r.(?) p.(Gly270Ser) g.155172877C>T Copied from the Exome Variant Server THBS3_000144 1/13006 1/8600 0/4406 - - - - - - -
?/? c.808+17G>C r.(=) p.(=) g.155172860C>G Copied from the Exome Variant Server THBS3_000143 1/13006 1/8600 0/4406 - - - - - - -
?/? c.808+34C>T r.(=) p.(=) g.155172843G>A Copied from the Exome Variant Server THBS3_000142 5/13006 5/8600 0/4406 - - - - - - -
?/? c.809-51G>A r.(=) p.(=) g.155172802C>T Copied from the Exome Variant Server THBS3_000141 1/13006 0/8600 1/4406 - - - - - - -
?/? c.809-42_809-39del r.(=) p.(=) g.155172790_155172793del Copied from the Exome Variant Server THBS3_000140 1/12520 1/8254 0/4266 - - - - - - -
?/? c.828C>G r.(=) p.(=) g.155172732G>C Copied from the Exome Variant Server THBS3_000139 1/13006 0/8600 1/4406 - - - - - - -
?/? c.835A>G r.(?) p.(Ser279Gly) g.155172725T>C Copied from the Exome Variant Server THBS3_000138 2014/13006 946/8600 1068/4406 - - - - - - -
?/? c.854G>A r.(?) p.(Arg285Gln) g.155172706C>T Copied from the Exome Variant Server THBS3_000137 3/13006 3/8600 0/4406 - - - - - - -
?/? c.931G>A r.(?) p.(Gly311Ser) g.155172629C>T Copied from the Exome Variant Server THBS3_000136 2/13006 2/8600 0/4406 - - - - - - -
?/? c.957+24G>A r.(=) p.(=) g.155172579C>T Copied from the Exome Variant Server THBS3_000135 7/12998 5/8594 2/4404 - - - - - - -
?/? c.958-34C>T r.(=) p.(=) g.155172226G>A Copied from the Exome Variant Server THBS3_000134 1/13006 1/8600 0/4406 - - - - - - -
?/? c.958-33_958-31del r.(=) p.(=) g.155172223_155172225del Copied from the Exome Variant Server THBS3_000133 1/12518 1/8252 0/4266 - - - - - - -
?/? c.958-21G>A r.(=) p.(=) g.155172213C>T Copied from the Exome Variant Server THBS3_000132 1/13006 1/8600 0/4406 - - - - - - -
?/? c.958-19C>A r.(=) p.(=) g.155172211G>T Copied from the Exome Variant Server THBS3_000131 1/13006 1/8600 0/4406 - - - - - - -
?/? c.966C>T r.(=) p.(=) g.155172184G>A Copied from the Exome Variant Server THBS3_000130 1/13006 1/8600 0/4406 - - - - - - -
?/? c.967G>A r.(?) p.(Ala323Thr) g.155172183C>T Copied from the Exome Variant Server THBS3_000129 1/13006 0/8600 1/4406 - - - - - - -
?/? c.975_976del r.(?) p.(Cys326Phefs*16) g.155172174_155172175del Copied from the Exome Variant Server THBS3_000128 1/12518 1/8252 0/4266 - - - - - - -
?/? c.983C>T r.(?) p.(Pro328Leu) g.155172167G>A Copied from the Exome Variant Server THBS3_000127 1/13006 1/8600 0/4406 - - - - - - -
?/? c.985G>A r.(?) p.(Gly329Ser) g.155172165C>T Copied from the Exome Variant Server THBS3_000126 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1016del r.(?) p.(Phe339Serfs*147) g.155172134del Copied from the Exome Variant Server THBS3_000125 1/12518 1/8252 0/4266 - - - - - - -
?/? c.1029C>T r.(=) p.(=) g.155172121G>A Copied from the Exome Variant Server THBS3_000124 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1063G>C r.(?) p.(Gly355Arg) g.155172087C>G Copied from the Exome Variant Server THBS3_000123 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1084C>T r.(?) p.(Arg362Trp) g.155172066G>A Copied from the Exome Variant Server THBS3_000122 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1098+27A>C r.(=) p.(=) g.155172025T>G Copied from the Exome Variant Server THBS3_000121 173/13006 154/8600 19/4406 - - - - - - -
?/? c.1098+30G>A r.(=) p.(=) g.155172022C>T Copied from the Exome Variant Server THBS3_000120 8/13006 7/8600 1/4406 - - - - - - -
?/? c.1099-40C>T r.(=) p.(=) g.155171865G>A Copied from the Exome Variant Server THBS3_000118 32/13006 28/8600 4/4406 - - - - - - -
?/? c.1099-17A>G r.(=) p.(=) g.155171842T>C Copied from the Exome Variant Server THBS3_000116 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1113C>T r.(=) p.(=) g.155171811G>A Copied from the Exome Variant Server THBS3_000115 211/13006 190/8600 21/4406 - - - - - - -
?/? c.1114G>A r.(?) p.(Asp372Asn) g.155171810C>T Copied from the Exome Variant Server THBS3_000112 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1151C>G r.(?) p.(Pro384Arg) g.155171773G>C Copied from the Exome Variant Server THBS3_000110 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1154A>C r.(?) p.(Asn385Thr) g.155171770T>G Copied from the Exome Variant Server THBS3_000108 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1176+3G>T r.spl? p.? g.155171745C>A Copied from the Exome Variant Server THBS3_000106 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1176+14C>T r.(=) p.(=) g.155171734G>A Copied from the Exome Variant Server THBS3_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1176+44T>C r.(=) p.(=) g.155171704A>G Copied from the Exome Variant Server THBS3_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1176+60G>A r.(=) p.(=) g.155171688C>T Copied from the Exome Variant Server THBS3_000100 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1177-39C>T r.(=) p.(=) g.155171399G>A Copied from the Exome Variant Server THBS3_000098 1/12996 0/8594 1/4402 - - - - - - -
?/? c.1206G>A r.(=) p.(=) g.155171331C>T Copied from the Exome Variant Server THBS3_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1243G>A r.(?) p.(Ala415Thr) g.155171294C>T Copied from the Exome Variant Server THBS3_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1276T>G r.(?) p.(Cys426Gly) g.155171261A>C Copied from the Exome Variant Server THBS3_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1307G>A r.(?) p.(Arg436His) g.155171230C>T Copied from the Exome Variant Server THBS3_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1310A>G r.(?) p.(Asn437Ser) g.155171227T>C Copied from the Exome Variant Server THBS3_000119 1/13006 0/8600 1/4406 - - - - - - -
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