Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.42040061A>C | CA454533115 | GLI3 | c.1005T>G (p.Gly335=) c.828T>G (p.Gly276=) n.982T>G c.1002T>G (p.Gly334=) | |
7 | g.42040061A>G | CA454533118 | GLI3 | c.1005T>C (p.Gly335=) c.828T>C (p.Gly276=) n.982T>C c.1002T>C (p.Gly334=) | |
7 | g.42040061A>T | CA454533121 | GLI3 | c.1005T>A (p.Gly335=) c.828T>A (p.Gly276=) n.982T>A c.1002T>A (p.Gly334=) | |
7 | g.42040062C>A | CA367329238 | GLI3 | c.1004G>T (p.Gly335Val) c.827G>T (p.Gly276Val) n.981G>T c.1001G>T (p.Gly334Val) | |
7 | g.42040062C>G | CA367329240 | GLI3 | c.1004G>C (p.Gly335Ala) c.827G>C (p.Gly276Ala) n.981G>C c.1001G>C (p.Gly334Ala) | |
7 | g.42040062C>T | CA367329242 | GLI3 | c.1004G>A (p.Gly335Asp) c.827G>A (p.Gly276Asp) n.981G>A c.1001G>A (p.Gly334Asp) | |
7 | g.42040063del | CA2682511708 | GLI3 | c.1004del (p.Gly335ValfsTer12) c.827del (p.Gly276ValfsTer12) n.981del c.1001del (p.Gly334ValfsTer12) | gnomAD v4 |
7 | g.42040063C>A | CA367329245 | GLI3 | c.1003G>T (p.Gly335Cys) c.826G>T (p.Gly276Cys) n.980G>T c.1000G>T (p.Gly334Cys) | |
7 | g.42040063C>G | CA367329247 | GLI3 | c.1003G>C (p.Gly335Arg) c.826G>C (p.Gly276Arg) n.980G>C c.1000G>C (p.Gly334Arg) | |
7 | g.42040063C>T | CA367329249 | GLI3 | c.1003G>A (p.Gly335Ser) c.826G>A (p.Gly276Ser) n.980G>A c.1000G>A (p.Gly334Ser) | |
7 | g.42040064A= | CA1702691078 | GLI3 | c.1002T= (p.Tyr334=) c.825T= (p.Tyr275=) n.979T= c.999T= (p.Tyr333=) | |
7 | g.42040064A>C | CA367329252 | GLI3 | c.1002T>G (p.Tyr334Ter) c.825T>G (p.Tyr275Ter) n.979T>G c.999T>G (p.Tyr333Ter) | |
7 | g.42040064A>G | CA4231001 | GLI3 | c.1002T>C (p.Tyr334=) c.825T>C (p.Tyr275=) n.979T>C c.999T>C (p.Tyr333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040064A>T | CA367329256 | GLI3 | c.1002T>A (p.Tyr334Ter) c.825T>A (p.Tyr275Ter) n.979T>A c.999T>A (p.Tyr333Ter) | ClinVar dbSNP |
7 | g.42040065T>A | CA367329258 | GLI3 | c.1001A>T (p.Tyr334Phe) c.824A>T (p.Tyr275Phe) n.978A>T c.998A>T (p.Tyr333Phe) | |
7 | g.42040065T>C | CA4231002 | GLI3 | c.1001A>G (p.Tyr334Cys) c.824A>G (p.Tyr275Cys) n.978A>G c.998A>G (p.Tyr333Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040065T>G | CA367329262 | GLI3 | c.1001A>C (p.Tyr334Ser) c.824A>C (p.Tyr275Ser) n.978A>C c.998A>C (p.Tyr333Ser) | |
7 | g.42040065T= | CA1702691082 | GLI3 | c.1001A= (p.Tyr334=) c.824A= (p.Tyr275=) n.978A= c.998A= (p.Tyr333=) | |
7 | g.42040066A>C | CA367329269 | GLI3 | c.1000T>G (p.Tyr334Asp) c.823T>G (p.Tyr275Asp) n.977T>G c.997T>G (p.Tyr333Asp) | |
7 | g.42040066A>G | CA367329266 | GLI3 | c.1000T>C (p.Tyr334His) c.823T>C (p.Tyr275His) n.977T>C c.997T>C (p.Tyr333His) | |
7 | g.42040066A>T | CA367329268 | GLI3 | c.1000T>A (p.Tyr334Asn) c.823T>A (p.Tyr275Asn) n.977T>A c.997T>A (p.Tyr333Asn) | |
7 | g.42040067G>A | CA4231003 | GLI3 | c.999C>T (p.Ser333=) c.822C>T (p.Ser274=) n.976C>T c.996C>T (p.Ser332=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040067G>C | CA454533164 | GLI3 | c.999C>G (p.Ser333=) c.822C>G (p.Ser274=) n.976C>G c.996C>G (p.Ser332=) | |
7 | g.42040067G= | CA1702691088 | GLI3 | c.999C= (p.Ser333=) c.822C= (p.Ser274=) n.976C= c.996C= (p.Ser332=) | |
7 | g.42040067G>T | CA454533169 | GLI3 | c.999C>A (p.Ser333=) c.822C>A (p.Ser274=) n.976C>A c.996C>A (p.Ser332=) | |
7 | g.42040068G>A | CA367329279 | GLI3 | c.998C>T (p.Ser333Phe) c.821C>T (p.Ser274Phe) n.975C>T c.995C>T (p.Ser332Phe) | |
7 | g.42040068G>C | CA367329282 | GLI3 | c.998C>G (p.Ser333Cys) c.821C>G (p.Ser274Cys) n.975C>G c.995C>G (p.Ser332Cys) | |
7 | g.42040068G>T | CA367329283 | GLI3 | c.998C>A (p.Ser333Tyr) c.821C>A (p.Ser274Tyr) n.975C>A c.995C>A (p.Ser332Tyr) | |
7 | g.42040069_42040070dup | CA2695207668 | GLI3 | c.997_998dup (p.Tyr334ProfsTer14) c.820_821dup (p.Tyr275ProfsTer14) n.974_975dup c.994_995dup (p.Tyr333ProfsTer14) | |
7 | g.42040069A>C | CA367329286 | GLI3 | c.997T>G (p.Ser333Ala) c.820T>G (p.Ser274Ala) n.974T>G c.994T>G (p.Ser332Ala) | |
7 | g.42040069A>G | CA367329288 | GLI3 | c.997T>C (p.Ser333Pro) c.820T>C (p.Ser274Pro) n.974T>C c.994T>C (p.Ser332Pro) | |
7 | g.42040069A>T | CA367329290 | GLI3 | c.997T>A (p.Ser333Thr) c.820T>A (p.Ser274Thr) n.974T>A c.994T>A (p.Ser332Thr) | |
7 | g.42040070G>A | CA454533188 | GLI3 | c.996C>T (p.Gly332=) c.819C>T (p.Gly273=) n.973C>T c.993C>T (p.Gly331=) | gnomAD v4 |
7 | g.42040070G>C | CA454533191 | GLI3 | c.996C>G (p.Gly332=) c.819C>G (p.Gly273=) n.973C>G c.993C>G (p.Gly331=) | |
7 | g.42040070G>T | CA454533193 | GLI3 | c.996C>A (p.Gly332=) c.819C>A (p.Gly273=) n.973C>A c.993C>A (p.Gly331=) | |
7 | g.42040071C>A | CA367329292 | GLI3 | c.995G>T (p.Gly332Val) c.818G>T (p.Gly273Val) n.972G>T c.992G>T (p.Gly331Val) | COSMIC |
7 | g.42040071C>G | CA367329295 | GLI3 | c.995G>C (p.Gly332Ala) c.818G>C (p.Gly273Ala) n.972G>C c.992G>C (p.Gly331Ala) | gnomAD v4 |
7 | g.42040071C>T | CA367329297 | GLI3 | c.995G>A (p.Gly332Asp) c.818G>A (p.Gly273Asp) n.972G>A c.992G>A (p.Gly331Asp) | |
7 | g.42040072C>A | CA367329308 | GLI3 | c.994G>T (p.Gly332Cys) c.817G>T (p.Gly273Cys) n.971G>T c.991G>T (p.Gly331Cys) | |
7 | g.42040072C>G | CA367329306 | GLI3 | c.994G>C (p.Gly332Arg) c.817G>C (p.Gly273Arg) n.971G>C c.991G>C (p.Gly331Arg) | COSMIC |
7 | g.42040072C>T | CA367329300 | GLI3 | c.994G>A (p.Gly332Ser) c.817G>A (p.Gly273Ser) n.971G>A c.991G>A (p.Gly331Ser) | COSMIC |
7 | g.42040073A>C | CA367329311 | GLI3 | c.993T>G (p.Ser331Arg) c.816T>G (p.Ser272Arg) n.970T>G c.990T>G (p.Ser330Arg) | |
7 | g.42040073A>G | CA454533216 | GLI3 | c.993T>C (p.Ser331=) c.816T>C (p.Ser272=) n.970T>C c.990T>C (p.Ser330=) | |
7 | g.42040073A>T | CA367329312 | GLI3 | c.993T>A (p.Ser331Arg) c.816T>A (p.Ser272Arg) n.970T>A c.990T>A (p.Ser330Arg) | |
7 | g.42040074C>A | CA367329316 | GLI3 | c.992G>T (p.Ser331Ile) c.815G>T (p.Ser272Ile) n.969G>T c.989G>T (p.Ser330Ile) | |
7 | g.42040074C= | CA1702691097 | GLI3 | c.992G= (p.Ser331=) c.815G= (p.Ser272=) n.969G= c.989G= (p.Ser330=) | |
7 | g.42040074C>G | CA367329318 | GLI3 | c.992G>C (p.Ser331Thr) c.815G>C (p.Ser272Thr) n.969G>C c.989G>C (p.Ser330Thr) | |
7 | g.42040074C>T | CA4231004 | GLI3 | c.992G>A (p.Ser331Asn) c.815G>A (p.Ser272Asn) n.969G>A c.989G>A (p.Ser330Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040075T>A | CA367329322 | GLI3 | c.991A>T (p.Ser331Cys) c.814A>T (p.Ser272Cys) n.968A>T c.988A>T (p.Ser330Cys) | |
7 | g.42040075T>C | CA4231005 | GLI3 | c.991A>G (p.Ser331Gly) c.814A>G (p.Ser272Gly) n.968A>G c.988A>G (p.Ser330Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040075T>G | CA367329326 | GLI3 | c.991A>C (p.Ser331Arg) c.814A>C (p.Ser272Arg) n.968A>C c.988A>C (p.Ser330Arg) | |
7 | g.42040075T= | CA1702691102 | GLI3 | c.991A= (p.Ser331=) c.814A= (p.Ser272=) n.968A= c.988A= (p.Ser330=) | |
7 | g.42040076T>A | CA454533240 | GLI3 | c.990A>T (p.Ala330=) c.813A>T (p.Ala271=) n.967A>T c.987A>T (p.Ala329=) | |
7 | g.42040076T>C | CA454533242 | GLI3 | c.990A>G (p.Ala330=) c.813A>G (p.Ala271=) n.967A>G c.987A>G (p.Ala329=) | |
7 | g.42040076T>G | CA454533246 | GLI3 | c.990A>C (p.Ala330=) c.813A>C (p.Ala271=) n.967A>C c.987A>C (p.Ala329=) | |
7 | g.42040077G>A | CA367329328 | GLI3 | c.989C>T (p.Ala330Val) c.812C>T (p.Ala271Val) n.966C>T c.986C>T (p.Ala329Val) | |
7 | g.42040077G>C | CA367329329 | GLI3 | c.989C>G (p.Ala330Gly) c.812C>G (p.Ala271Gly) n.966C>G c.986C>G (p.Ala329Gly) | |
7 | g.42040077G>T | CA367329334 | GLI3 | c.989C>A (p.Ala330Glu) c.812C>A (p.Ala271Glu) n.966C>A c.986C>A (p.Ala329Glu) | |
7 | g.42040078C>A | CA367329337 | GLI3 | c.988G>T (p.Ala330Ser) c.811G>T (p.Ala271Ser) n.965G>T c.985G>T (p.Ala329Ser) | |
7 | g.42040078C>G | CA367329338 | GLI3 | c.988G>C (p.Ala330Pro) c.811G>C (p.Ala271Pro) n.965G>C c.985G>C (p.Ala329Pro) | |
7 | g.42040078C>T | CA367329339 | GLI3 | c.988G>A (p.Ala330Thr) c.811G>A (p.Ala271Thr) n.965G>A c.985G>A (p.Ala329Thr) | |
7 | g.42040079T>A | CA454533266 | GLI3 | c.987A>T (p.Ser329=) c.810A>T (p.Ser270=) n.964A>T c.984A>T (p.Ser328=) | |
7 | g.42040079T>C | CA454533272 | GLI3 | c.987A>G (p.Ser329=) c.810A>G (p.Ser270=) n.964A>G c.984A>G (p.Ser328=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040079T>G | CA454533269 | GLI3 | c.987A>C (p.Ser329=) c.810A>C (p.Ser270=) n.964A>C c.984A>C (p.Ser328=) | gnomAD v4 |
7 | g.42040079T= | CA1702691106 | GLI3 | c.987A= (p.Ser329=) c.810A= (p.Ser270=) n.964A= c.984A= (p.Ser328=) | |
7 | g.42040080G>A | CA367329342 | GLI3 | c.986C>T (p.Ser329Leu) c.809C>T (p.Ser270Leu) n.963C>T c.983C>T (p.Ser328Leu) | |
7 | g.42040080G>C | CA367329340 | GLI3 | c.986C>G (p.Ser329Ter) c.809C>G (p.Ser270Ter) n.963C>G c.983C>G (p.Ser328Ter) | |
7 | g.42040080G>T | CA367329341 | GLI3 | c.986C>A (p.Ser329Ter) c.809C>A (p.Ser270Ter) n.963C>A c.983C>A (p.Ser328Ter) | COSMIC |
7 | g.42040081A>C | CA367329344 | GLI3 | c.985T>G (p.Ser329Ala) c.808T>G (p.Ser270Ala) n.962T>G c.982T>G (p.Ser328Ala) | |
7 | g.42040081A>G | CA367329346 | GLI3 | c.985T>C (p.Ser329Pro) c.808T>C (p.Ser270Pro) n.962T>C c.982T>C (p.Ser328Pro) | |
7 | g.42040081A>T | CA367329348 | GLI3 | c.985T>A (p.Ser329Thr) c.808T>A (p.Ser270Thr) n.962T>A c.982T>A (p.Ser328Thr) | |
7 | g.42040082A= | CA1702691109 | GLI3 | c.984T= (p.Ser328=) c.807T= (p.Ser269=) n.961T= c.981T= (p.Ser327=) | |
7 | g.42040082A>C | CA454533292 | GLI3 | c.984T>G (p.Ser328=) c.807T>G (p.Ser269=) n.961T>G c.981T>G (p.Ser327=) | gnomAD v4 |
7 | g.42040082A>G | CA454533296 | GLI3 | c.984T>C (p.Ser328=) c.807T>C (p.Ser269=) n.961T>C c.981T>C (p.Ser327=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040082A>T | CA454533299 | GLI3 | c.984T>A (p.Ser328=) c.807T>A (p.Ser269=) n.961T>A c.981T>A (p.Ser327=) | |
7 | g.42040083G>A | CA367329352 | GLI3 | c.983C>T (p.Ser328Phe) c.806C>T (p.Ser269Phe) n.960C>T c.980C>T (p.Ser327Phe) | |
7 | g.42040083G>C | CA367329353 | GLI3 | c.983C>G (p.Ser328Cys) c.806C>G (p.Ser269Cys) n.960C>G c.980C>G (p.Ser327Cys) | |
7 | g.42040083G>T | CA367329356 | GLI3 | c.983C>A (p.Ser328Tyr) c.806C>A (p.Ser269Tyr) n.960C>A c.980C>A (p.Ser327Tyr) | |
7 | g.42040084A>C | CA367329358 | GLI3 | c.982T>G (p.Ser328Ala) c.805T>G (p.Ser269Ala) n.959T>G c.979T>G (p.Ser327Ala) | |
7 | g.42040084A>G | CA367329359 | GLI3 | c.982T>C (p.Ser328Pro) c.805T>C (p.Ser269Pro) n.959T>C c.979T>C (p.Ser327Pro) | |
7 | g.42040084A>T | CA367329360 | GLI3 | c.982T>A (p.Ser328Thr) c.805T>A (p.Ser269Thr) n.959T>A c.979T>A (p.Ser327Thr) | |
7 | g.42040085G>A | CA454533316 | GLI3 | c.981C>T (p.Ser327=) c.804C>T (p.Ser268=) n.958C>T c.978C>T (p.Ser326=) | dbSNP |
7 | g.42040085G>C | CA367329363 | GLI3 | c.981C>G (p.Ser327Arg) c.804C>G (p.Ser268Arg) n.958C>G c.978C>G (p.Ser326Arg) | |
7 | g.42040085G= | CA1702691112 | GLI3 | c.981C= (p.Ser327=) c.804C= (p.Ser268=) n.958C= c.978C= (p.Ser326=) | |
7 | g.42040085G>T | CA367329375 | GLI3 | c.981C>A (p.Ser327Arg) c.804C>A (p.Ser268Arg) n.958C>A c.978C>A (p.Ser326Arg) | |
7 | g.42040086C>A | CA367329390 | GLI3 | c.980G>T (p.Ser327Ile) c.803G>T (p.Ser268Ile) n.957G>T c.977G>T (p.Ser326Ile) | |
7 | g.42040086C>G | CA367329386 | GLI3 | c.980G>C (p.Ser327Thr) c.803G>C (p.Ser268Thr) n.957G>C c.977G>C (p.Ser326Thr) | |
7 | g.42040086C>T | CA367329383 | GLI3 | c.980G>A (p.Ser327Asn) c.803G>A (p.Ser268Asn) n.957G>A c.977G>A (p.Ser326Asn) | |
7 | g.42040087T>A | CA367329394 | GLI3 | c.979A>T (p.Ser327Cys) c.802A>T (p.Ser268Cys) n.956A>T c.976A>T (p.Ser326Cys) | |
7 | g.42040087T>C | CA367329396 | GLI3 | c.979A>G (p.Ser327Gly) c.802A>G (p.Ser268Gly) n.956A>G c.976A>G (p.Ser326Gly) | |
7 | g.42040087T>G | CA367329398 | GLI3 | c.979A>C (p.Ser327Arg) c.802A>C (p.Ser268Arg) n.956A>C c.976A>C (p.Ser326Arg) | |
7 | g.42040088G>A | CA454533343 | GLI3 | c.978C>T (p.Ser326=) c.801C>T (p.Ser267=) n.955C>T c.975C>T (p.Ser325=) | |
7 | g.42040088G>C | CA367329401 | GLI3 | c.978C>G (p.Ser326Arg) c.801C>G (p.Ser267Arg) n.955C>G c.975C>G (p.Ser325Arg) | |
7 | g.42040088G>T | CA367329405 | GLI3 | c.978C>A (p.Ser326Arg) c.801C>A (p.Ser267Arg) n.955C>A c.975C>A (p.Ser325Arg) | |
7 | g.42040089C>A | CA367329411 | GLI3 | c.977G>T (p.Ser326Ile) c.800G>T (p.Ser267Ile) n.954G>T c.974G>T (p.Ser325Ile) | |
7 | g.42040089C= | CA1702691115 | GLI3 | c.977G= (p.Ser326=) c.800G= (p.Ser267=) n.954G= c.974G= (p.Ser325=) | |
7 | g.42040089C>G | CA367329409 | GLI3 | c.977G>C (p.Ser326Thr) c.800G>C (p.Ser267Thr) n.954G>C c.974G>C (p.Ser325Thr) | |
7 | g.42040089C>T | CA4231006 | GLI3 | c.977G>A (p.Ser326Asn) c.800G>A (p.Ser267Asn) n.954G>A c.974G>A (p.Ser325Asn) | dbSNP ExAC gnomAD v4 |
7 | g.42040090T>A | CA367329414 | GLI3 | c.976A>T (p.Ser326Cys) c.799A>T (p.Ser267Cys) n.953A>T c.973A>T (p.Ser325Cys) | |
7 | g.42040090T>C | CA367329416 | GLI3 | c.976A>G (p.Ser326Gly) c.799A>G (p.Ser267Gly) n.953A>G c.973A>G (p.Ser325Gly) | gnomAD v4 |
7 | g.42040090T>G | CA367329418 | GLI3 | c.976A>C (p.Ser326Arg) c.799A>C (p.Ser267Arg) n.953A>C c.973A>C (p.Ser325Arg) | |
7 | g.42040091A>C | CA454533364 | GLI3 | c.975T>G (p.Arg325=) c.798T>G (p.Arg266=) n.952T>G c.972T>G (p.Arg324=) | |
7 | g.42040091A>G | CA454533366 | GLI3 | c.975T>C (p.Arg325=) c.798T>C (p.Arg266=) n.952T>C c.972T>C (p.Arg324=) | |
7 | g.42040091A>T | CA454533369 | GLI3 | c.975T>A (p.Arg325=) c.798T>A (p.Arg266=) n.952T>A c.972T>A (p.Arg324=) | |
7 | g.42040092C>A | CA367329421 | GLI3 | c.974G>T (p.Arg325Leu) c.797G>T (p.Arg266Leu) n.951G>T c.971G>T (p.Arg324Leu) | |
7 | g.42040092C= | CA1702691120 | GLI3 | c.974G= (p.Arg325=) c.797G= (p.Arg266=) n.951G= c.971G= (p.Arg324=) | |
7 | g.42040092C>G | CA367329423 | GLI3 | c.974G>C (p.Arg325Pro) c.797G>C (p.Arg266Pro) n.951G>C c.971G>C (p.Arg324Pro) | gnomAD v4 |
7 | g.42040092C>T | CA4231007 | GLI3 | c.974G>A (p.Arg325His) c.797G>A (p.Arg266His) n.951G>A c.971G>A (p.Arg324His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040093G>A | CA156907358 | GLI3 | c.973C>T (p.Arg325Cys) c.796C>T (p.Arg266Cys) n.950C>T c.970C>T (p.Arg324Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040093G>C | CA367329431 | GLI3 | c.973C>G (p.Arg325Gly) c.796C>G (p.Arg266Gly) n.950C>G c.970C>G (p.Arg324Gly) | |
7 | g.42040093G= | CA1702691124 | GLI3 | c.973C= (p.Arg325=) c.796C= (p.Arg266=) n.950C= c.970C= (p.Arg324=) | |
7 | g.42040093G>T | CA367329429 | GLI3 | c.973C>A (p.Arg325Ser) c.796C>A (p.Arg266Ser) n.950C>A c.970C>A (p.Arg324Ser) | dbSNP COSMIC |
7 | g.42040094G>A | CA454533382 | GLI3 | c.972C>T (p.Ser324=) c.795C>T (p.Ser265=) n.949C>T c.969C>T (p.Ser323=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.42040094G>C | CA454533379 | GLI3 | c.972C>G (p.Ser324=) c.795C>G (p.Ser265=) n.949C>G c.969C>G (p.Ser323=) | |
7 | g.42040094G= | CA1702691130 | GLI3 | c.972C= (p.Ser324=) c.795C= (p.Ser265=) n.949C= c.969C= (p.Ser323=) | |
7 | g.42040094G>T | CA454533380 | GLI3 | c.972C>A (p.Ser324=) c.795C>A (p.Ser265=) n.949C>A c.969C>A (p.Ser323=) | |
7 | g.42040095G>A | CA367329434 | GLI3 | c.971C>T (p.Ser324Phe) c.794C>T (p.Ser265Phe) n.948C>T c.968C>T (p.Ser323Phe) | gnomAD v4 COSMIC |
7 | g.42040095G>C | CA367329436 | GLI3 | c.971C>G (p.Ser324Cys) c.794C>G (p.Ser265Cys) n.948C>G c.968C>G (p.Ser323Cys) | |
7 | g.42040095G>T | CA367329438 | GLI3 | c.971C>A (p.Ser324Tyr) c.794C>A (p.Ser265Tyr) n.948C>A c.968C>A (p.Ser323Tyr) | |
7 | g.42040096A>C | CA367329441 | GLI3 | c.970T>G (p.Ser324Ala) c.793T>G (p.Ser265Ala) n.947T>G c.967T>G (p.Ser323Ala) | |
7 | g.42040096A>G | CA367329443 | GLI3 | c.970T>C (p.Ser324Pro) c.793T>C (p.Ser265Pro) n.947T>C c.967T>C (p.Ser323Pro) | |
7 | g.42040096A>T | CA367329445 | GLI3 | c.970T>A (p.Ser324Thr) c.793T>A (p.Ser265Thr) n.947T>A c.967T>A (p.Ser323Thr) | |
7 | g.42040097A>C | CA367329448 | GLI3 | c.969T>G (p.Asn323Lys) c.792T>G (p.Asn264Lys) n.946T>G c.966T>G (p.Asn322Lys) | |
7 | g.42040097A>G | CA454533392 | GLI3 | c.969T>C (p.Asn323=) c.792T>C (p.Asn264=) n.946T>C c.966T>C (p.Asn322=) | gnomAD v4 |
7 | g.42040097A>T | CA367329451 | GLI3 | c.969T>A (p.Asn323Lys) c.792T>A (p.Asn264Lys) n.946T>A c.966T>A (p.Asn322Lys) | |
7 | g.42040098T>A | CA367329454 | GLI3 | c.968A>T (p.Asn323Ile) c.791A>T (p.Asn264Ile) n.945A>T c.965A>T (p.Asn322Ile) | |
7 | g.42040098T>C | CA367329456 | GLI3 | c.968A>G (p.Asn323Ser) c.791A>G (p.Asn264Ser) n.945A>G c.965A>G (p.Asn322Ser) | |
7 | g.42040098T>G | CA367329458 | GLI3 | c.968A>C (p.Asn323Thr) c.791A>C (p.Asn264Thr) n.945A>C c.965A>C (p.Asn322Thr) | |
7 | g.42040099T>A | CA367329464 | GLI3 | c.967A>T (p.Asn323Tyr) c.790A>T (p.Asn264Tyr) n.944A>T c.964A>T (p.Asn322Tyr) | |
7 | g.42040099T>C | CA367329467 | GLI3 | c.967A>G (p.Asn323Asp) c.790A>G (p.Asn264Asp) n.944A>G c.964A>G (p.Asn322Asp) | |
7 | g.42040099T>G | CA367329462 | GLI3 | c.967A>C (p.Asn323His) c.790A>C (p.Asn264His) n.944A>C c.964A>C (p.Asn322His) | |
7 | g.42040100A>C | CA367329472 | GLI3 | c.966T>G (p.Asn322Lys) c.789T>G (p.Asn263Lys) n.943T>G c.963T>G (p.Asn321Lys) | |
7 | g.42040100A>G | CA454533401 | GLI3 | c.966T>C (p.Asn322=) c.789T>C (p.Asn263=) n.943T>C c.963T>C (p.Asn321=) | |
7 | g.42040100A>T | CA367329470 | GLI3 | c.966T>A (p.Asn322Lys) c.789T>A (p.Asn263Lys) n.943T>A c.963T>A (p.Asn321Lys) | |
7 | g.42040101T>A | CA367329475 | GLI3 | c.965A>T (p.Asn322Ile) c.788A>T (p.Asn263Ile) n.942A>T c.962A>T (p.Asn321Ile) | |
7 | g.42040101T>C | CA4231008 | GLI3 | c.965A>G (p.Asn322Ser) c.788A>G (p.Asn263Ser) n.942A>G c.962A>G (p.Asn321Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040101T>G | CA367329479 | GLI3 | c.965A>C (p.Asn322Thr) c.788A>C (p.Asn263Thr) n.942A>C c.962A>C (p.Asn321Thr) | |
7 | g.42040101T= | CA1702691134 | GLI3 | c.965A= (p.Asn322=) c.788A= (p.Asn263=) n.942A= c.962A= (p.Asn321=) | |
7 | g.42040102T>A | CA367329481 | GLI3 | c.964A>T (p.Asn322Tyr) c.787A>T (p.Asn263Tyr) n.941A>T c.961A>T (p.Asn321Tyr) | gnomAD v4 |
7 | g.42040102T>C | CA367329485 | GLI3 | c.964A>G (p.Asn322Asp) c.787A>G (p.Asn263Asp) n.941A>G c.961A>G (p.Asn321Asp) | |
7 | g.42040102T>G | CA367329488 | GLI3 | c.964A>C (p.Asn322His) c.787A>C (p.Asn263His) n.941A>C c.961A>C (p.Asn321His) | dbSNP gnomAD v4 |
7 | g.42040102T= | CA1702691138 | GLI3 | c.964A= (p.Asn322=) c.787A= (p.Asn263=) n.941A= c.961A= (p.Asn321=) | |
7 | g.42040103G>A | CA4231009 | GLI3 | c.963C>T (p.Leu321=) c.786C>T (p.Leu262=) n.940C>T c.960C>T (p.Leu320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040103G>C | CA454533413 | GLI3 | c.963C>G (p.Leu321=) c.786C>G (p.Leu262=) n.940C>G c.960C>G (p.Leu320=) | |
7 | g.42040103G= | CA1702691146 | GLI3 | c.963C= (p.Leu321=) c.786C= (p.Leu262=) n.940C= c.960C= (p.Leu320=) | |
7 | g.42040103G>T | CA454533415 | GLI3 | c.963C>A (p.Leu321=) c.786C>A (p.Leu262=) n.940C>A c.960C>A (p.Leu320=) | |
7 | g.42040104A>C | CA367329493 | GLI3 | c.962T>G (p.Leu321Arg) c.785T>G (p.Leu262Arg) n.939T>G c.959T>G (p.Leu320Arg) | |
7 | g.42040104A>G | CA367329498 | GLI3 | c.962T>C (p.Leu321Pro) c.785T>C (p.Leu262Pro) n.939T>C c.959T>C (p.Leu320Pro) | |
7 | g.42040104A>T | CA367329495 | GLI3 | c.962T>A (p.Leu321His) c.785T>A (p.Leu262His) n.939T>A c.959T>A (p.Leu320His) | |
7 | g.42040105G>A | CA4231010 | GLI3 | c.961C>T (p.Leu321Phe) c.784C>T (p.Leu262Phe) n.938C>T c.958C>T (p.Leu320Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040105G>C | CA367329502 | GLI3 | c.961C>G (p.Leu321Val) c.784C>G (p.Leu262Val) n.938C>G c.958C>G (p.Leu320Val) | gnomAD v4 |
7 | g.42040105G= | CA1702691156 | GLI3 | c.961C= (p.Leu321=) c.784C= (p.Leu262=) n.938C= c.958C= (p.Leu320=) | |
7 | g.42040105G>T | CA367329503 | GLI3 | c.961C>A (p.Leu321Ile) c.784C>A (p.Leu262Ile) n.938C>A c.958C>A (p.Leu320Ile) | |
7 | g.42040106A>C | CA367329507 | GLI3 | c.960T>G (p.Ile320Met) c.783T>G (p.Ile261Met) n.937T>G c.957T>G (p.Ile319Met) | |
7 | g.42040106A>G | CA454533424 | GLI3 | c.960T>C (p.Ile320=) c.783T>C (p.Ile261=) n.937T>C c.957T>C (p.Ile319=) | |
7 | g.42040106A>T | CA454533427 | GLI3 | c.960T>A (p.Ile320=) c.783T>A (p.Ile261=) n.937T>A c.957T>A (p.Ile319=) | |
7 | g.42040107A= | CA1702691159 | GLI3 | c.959T= (p.Ile320=) c.782T= (p.Ile261=) n.936T= c.956T= (p.Ile319=) | |
7 | g.42040107A>C | CA367329511 | GLI3 | c.959T>G (p.Ile320Ser) c.782T>G (p.Ile261Ser) n.936T>G c.956T>G (p.Ile319Ser) | |
7 | g.42040107A>G | CA367329515 | GLI3 | c.959T>C (p.Ile320Thr) c.782T>C (p.Ile261Thr) n.936T>C c.956T>C (p.Ile319Thr) | dbSNP |
7 | g.42040107A>T | CA367329513 | GLI3 | c.959T>A (p.Ile320Asn) c.782T>A (p.Ile261Asn) n.936T>A c.956T>A (p.Ile319Asn) | |
7 | g.42040108T>A | CA367329518 | GLI3 | c.958A>T (p.Ile320Phe) c.781A>T (p.Ile261Phe) n.935A>T c.955A>T (p.Ile319Phe) | |
7 | g.42040108T>C | CA367329520 | GLI3 | c.958A>G (p.Ile320Val) c.781A>G (p.Ile261Val) n.935A>G c.955A>G (p.Ile319Val) | |
7 | g.42040108T>G | CA367329523 | GLI3 | c.958A>C (p.Ile320Leu) c.781A>C (p.Ile261Leu) n.935A>C c.955A>C (p.Ile319Leu) | |
7 | g.42040109C>A | CA454533434 | GLI3 | c.957G>T (p.Thr319=) c.780G>T (p.Thr260=) n.934G>T c.954G>T (p.Thr318=) | |
7 | g.42040109C= | CA1702691164 | GLI3 | c.957G= (p.Thr319=) c.780G= (p.Thr260=) n.934G= c.954G= (p.Thr318=) | |
7 | g.42040109C>G | CA454533435 | GLI3 | c.957G>C (p.Thr319=) c.780G>C (p.Thr260=) n.934G>C c.954G>C (p.Thr318=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040109C>T | CA4231011 | GLI3 | c.957G>A (p.Thr319=) c.780G>A (p.Thr260=) n.934G>A c.954G>A (p.Thr318=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040110G>A | CA4231012 | GLI3 | c.956C>T (p.Thr319Met) c.779C>T (p.Thr260Met) n.933C>T c.953C>T (p.Thr318Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040110G>C | CA367329525 | GLI3 | c.956C>G (p.Thr319Arg) c.779C>G (p.Thr260Arg) n.933C>G c.953C>G (p.Thr318Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040110G= | CA1702691172 | GLI3 | c.956C= (p.Thr319=) c.779C= (p.Thr260=) n.933C= c.953C= (p.Thr318=) | |
7 | g.42040110G>T | CA367329528 | GLI3 | c.956C>A (p.Thr319Lys) c.779C>A (p.Thr260Lys) n.933C>A c.953C>A (p.Thr318Lys) | dbSNP |
7 | g.42040111T>A | CA367329530 | GLI3 | c.955A>T (p.Thr319Ser) c.778A>T (p.Thr260Ser) n.932A>T c.952A>T (p.Thr318Ser) | |
7 | g.42040111T>C | CA367329532 | GLI3 | c.955A>G (p.Thr319Ala) c.778A>G (p.Thr260Ala) n.932A>G c.952A>G (p.Thr318Ala) | |
7 | g.42040111T>G | CA367329534 | GLI3 | c.955A>C (p.Thr319Pro) c.778A>C (p.Thr260Pro) n.932A>C c.952A>C (p.Thr318Pro) | |
7 | g.42040112G>A | CA4231013 | GLI3 | c.954C>T (p.Val318=) c.777C>T (p.Val259=) n.931C>T c.951C>T (p.Val317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040112G>C | CA454533447 | GLI3 | c.954C>G (p.Val318=) c.777C>G (p.Val259=) n.931C>G c.951C>G (p.Val317=) | |
7 | g.42040112G= | CA1702691179 | GLI3 | c.954C= (p.Val318=) c.777C= (p.Val259=) n.931C= c.951C= (p.Val317=) | |
7 | g.42040112G>T | CA454533449 | GLI3 | c.954C>A (p.Val318=) c.777C>A (p.Val259=) n.931C>A c.951C>A (p.Val317=) | |
7 | g.42040113A>C | CA367329539 | GLI3 | c.953T>G (p.Val318Gly) c.776T>G (p.Val259Gly) n.930T>G c.950T>G (p.Val317Gly) | |
7 | g.42040113A>G | CA367329545 | GLI3 | c.953T>C (p.Val318Ala) c.776T>C (p.Val259Ala) n.930T>C c.950T>C (p.Val317Ala) | |
7 | g.42040113A>T | CA367329542 | GLI3 | c.953T>A (p.Val318Asp) c.776T>A (p.Val259Asp) n.930T>A c.950T>A (p.Val317Asp) | |
7 | g.42040114C>A | CA367329548 | GLI3 | c.952G>T (p.Val318Phe) c.775G>T (p.Val259Phe) n.929G>T c.949G>T (p.Val317Phe) | |
7 | g.42040114C>G | CA367329549 | GLI3 | c.952G>C (p.Val318Leu) c.775G>C (p.Val259Leu) n.929G>C c.949G>C (p.Val317Leu) | |
7 | g.42040114C>T | CA367329551 | GLI3 | c.952G>A (p.Val318Ile) c.775G>A (p.Val259Ile) n.929G>A c.949G>A (p.Val317Ile) | |
7 | g.42040115C>A | CA367329555 | GLI3 | c.951G>T (p.Leu317Phe) c.774G>T (p.Leu258Phe) n.928G>T c.948G>T (p.Leu316Phe) | |
7 | g.42040115C>G | CA367329557 | GLI3 | c.951G>C (p.Leu317Phe) c.774G>C (p.Leu258Phe) n.928G>C c.948G>C (p.Leu316Phe) | |
7 | g.42040115C>T | CA454533458 | GLI3 | c.951G>A (p.Leu317=) c.774G>A (p.Leu258=) n.928G>A c.948G>A (p.Leu316=) | |
7 | g.42040116A>C | CA367329560 | GLI3 | c.950T>G (p.Leu317Trp) c.773T>G (p.Leu258Trp) n.927T>G c.947T>G (p.Leu316Trp) | gnomAD v4 |
7 | g.42040116A>G | CA367329563 | GLI3 | c.950T>C (p.Leu317Ser) c.773T>C (p.Leu258Ser) n.927T>C c.947T>C (p.Leu316Ser) | |
7 | g.42040116A>T | CA367329565 | GLI3 | c.950T>A (p.Leu317Ter) c.773T>A (p.Leu258Ter) n.927T>A c.947T>A (p.Leu316Ter) | |
7 | g.42040117A>C | CA367329568 | GLI3 | c.949T>G (p.Leu317Val) c.772T>G (p.Leu258Val) n.926T>G c.946T>G (p.Leu316Val) | |
7 | g.42040117A>G | CA454533466 | GLI3 | c.949T>C (p.Leu317=) c.772T>C (p.Leu258=) n.926T>C c.946T>C (p.Leu316=) | |
7 | g.42040117A>T | CA367329570 | GLI3 | c.949T>A (p.Leu317Met) c.772T>A (p.Leu258Met) n.926T>A c.946T>A (p.Leu316Met) | |
7 | g.42040118G>A | CA454533470 | GLI3 | c.948C>T (p.Ser316=) c.771C>T (p.Ser257=) n.925C>T c.945C>T (p.Ser315=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.42040118G>C | CA454533471 | GLI3 | c.948C>G (p.Ser316=) c.771C>G (p.Ser257=) n.925C>G c.945C>G (p.Ser315=) | |
7 | g.42040118G= | CA1702691185 | GLI3 | c.948C= (p.Ser316=) c.771C= (p.Ser257=) n.925C= c.945C= (p.Ser315=) | |
7 | g.42040118G>T | CA454533473 | GLI3 | c.948C>A (p.Ser316=) c.771C>A (p.Ser257=) n.925C>A c.945C>A (p.Ser315=) | |
7 | g.42040119G>A | CA367329573 | GLI3 | c.947C>T (p.Ser316Phe) c.770C>T (p.Ser257Phe) n.924C>T c.944C>T (p.Ser315Phe) | |
7 | g.42040119G>C | CA367329575 | GLI3 | c.947C>G (p.Ser316Cys) c.770C>G (p.Ser257Cys) n.924C>G c.944C>G (p.Ser315Cys) | |
7 | g.42040119G>T | CA367329576 | GLI3 | c.947C>A (p.Ser316Tyr) c.770C>A (p.Ser257Tyr) n.924C>A c.944C>A (p.Ser315Tyr) | |
7 | g.42040120A>C | CA367329578 | GLI3 | c.946T>G (p.Ser316Ala) c.769T>G (p.Ser257Ala) n.923T>G c.943T>G (p.Ser315Ala) | |
7 | g.42040120A>G | CA367329580 | GLI3 | c.946T>C (p.Ser316Pro) c.769T>C (p.Ser257Pro) n.923T>C c.943T>C (p.Ser315Pro) | |
7 | g.42040120A>T | CA367329579 | GLI3 | c.946T>A (p.Ser316Thr) c.769T>A (p.Ser257Thr) n.923T>A c.943T>A (p.Ser315Thr) | |
7 | g.42040121G>A | CA454533482 | GLI3 | c.945C>T (p.Asn315=) c.768C>T (p.Asn256=) n.922C>T c.942C>T (p.Asn314=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.42040121G>C | CA367329581 | GLI3 | c.945C>G (p.Asn315Lys) c.768C>G (p.Asn256Lys) n.922C>G c.942C>G (p.Asn314Lys) | |
7 | g.42040121G= | CA1702691187 | GLI3 | c.945C= (p.Asn315=) c.768C= (p.Asn256=) n.922C= c.942C= (p.Asn314=) | |
7 | g.42040121G>T | CA4231014 | GLI3 | c.945C>A (p.Asn315Lys) c.768C>A (p.Asn256Lys) n.922C>A c.942C>A (p.Asn314Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040122T>A | CA367329582 | GLI3 | c.944A>T (p.Asn315Ile) c.767A>T (p.Asn256Ile) n.921A>T c.941A>T (p.Asn314Ile) | dbSNP |
7 | g.42040122T>C | CA367329583 | GLI3 | c.944A>G (p.Asn315Ser) c.767A>G (p.Asn256Ser) n.921A>G c.941A>G (p.Asn314Ser) | gnomAD v4 |
7 | g.42040122T>G | CA367329584 | GLI3 | c.944A>C (p.Asn315Thr) c.767A>C (p.Asn256Thr) n.921A>C c.941A>C (p.Asn314Thr) | |
7 | g.42040122T= | CA1702691195 | GLI3 | c.944A= (p.Asn315=) c.767A= (p.Asn256=) n.921A= c.941A= (p.Asn314=) | |
7 | g.42040123T>A | CA367329585 | GLI3 | c.943A>T (p.Asn315Tyr) c.766A>T (p.Asn256Tyr) n.920A>T c.940A>T (p.Asn314Tyr) | |
7 | g.42040123T>C | CA367329586 | GLI3 | c.943A>G (p.Asn315Asp) c.766A>G (p.Asn256Asp) n.920A>G c.940A>G (p.Asn314Asp) | |
7 | g.42040123T>G | CA367329587 | GLI3 | c.943A>C (p.Asn315His) c.766A>C (p.Asn256His) n.920A>C c.940A>C (p.Asn314His) | |
7 | g.42040124G>A | CA454533492 | GLI3 | c.942C>T (p.Pro314=) c.765C>T (p.Pro255=) n.919C>T c.939C>T (p.Pro313=) | |
7 | g.42040124G>C | CA454533494 | GLI3 | c.942C>G (p.Pro314=) c.765C>G (p.Pro255=) n.919C>G c.939C>G (p.Pro313=) | |
7 | g.42040124G>T | CA454533496 | GLI3 | c.942C>A (p.Pro314=) c.765C>A (p.Pro255=) n.919C>A c.939C>A (p.Pro313=) | |
7 | g.42040125G>A | CA156907397 | GLI3 | c.941C>T (p.Pro314Leu) c.764C>T (p.Pro255Leu) n.918C>T c.938C>T (p.Pro313Leu) | dbSNP gnomAD v4 |
7 | g.42040125G>C | CA367329588 | GLI3 | c.941C>G (p.Pro314Arg) c.764C>G (p.Pro255Arg) n.918C>G c.938C>G (p.Pro313Arg) | |
7 | g.42040125G= | CA1702691199 | GLI3 | c.941C= (p.Pro314=) c.764C= (p.Pro255=) n.918C= c.938C= (p.Pro313=) | |
7 | g.42040125G>T | CA367329589 | GLI3 | c.941C>A (p.Pro314His) c.764C>A (p.Pro255His) n.918C>A c.938C>A (p.Pro313His) | |
7 | g.42040126G>A | CA367329591 | GLI3 | c.940C>T (p.Pro314Ser) c.763C>T (p.Pro255Ser) n.917C>T c.937C>T (p.Pro313Ser) | |
7 | g.42040126G>C | CA156907414 | GLI3 | c.940C>G (p.Pro314Ala) c.763C>G (p.Pro255Ala) n.917C>G c.937C>G (p.Pro313Ala) | dbSNP gnomAD v4 |
7 | g.42040126G= | CA1702691207 | GLI3 | c.940C= (p.Pro314=) c.763C= (p.Pro255=) n.917C= c.937C= (p.Pro313=) | |
7 | g.42040126G>T | CA367329590 | GLI3 | c.940C>A (p.Pro314Thr) c.763C>A (p.Pro255Thr) n.917C>A c.937C>A (p.Pro313Thr) | |
7 | g.42040127A>C | CA454533505 | GLI3 | c.939T>G (p.Ser313=) c.762T>G (p.Ser254=) n.916T>G c.936T>G (p.Ser312=) | |
7 | g.42040127A>G | CA454533507 | GLI3 | c.939T>C (p.Ser313=) c.762T>C (p.Ser254=) n.916T>C c.936T>C (p.Ser312=) | |
7 | g.42040127A>T | CA454533509 | GLI3 | c.939T>A (p.Ser313=) c.762T>A (p.Ser254=) n.916T>A c.936T>A (p.Ser312=) | |
7 | g.42040128G>A | CA367329594 | GLI3 | c.938C>T (p.Ser313Phe) c.761C>T (p.Ser254Phe) n.915C>T c.935C>T (p.Ser312Phe) | |
7 | g.42040128G>C | CA367329592 | GLI3 | c.938C>G (p.Ser313Cys) c.761C>G (p.Ser254Cys) n.915C>G c.935C>G (p.Ser312Cys) | |
7 | g.42040128G>T | CA367329593 | GLI3 | c.938C>A (p.Ser313Tyr) c.761C>A (p.Ser254Tyr) n.915C>A c.935C>A (p.Ser312Tyr) | |
7 | g.42040129A>C | CA367329595 | GLI3 | c.937T>G (p.Ser313Ala) c.760T>G (p.Ser254Ala) n.914T>G c.934T>G (p.Ser312Ala) | |
7 | g.42040129A>G | CA367329596 | GLI3 | c.937T>C (p.Ser313Pro) c.760T>C (p.Ser254Pro) n.914T>C c.934T>C (p.Ser312Pro) | |
7 | g.42040129A>T | CA367329597 | GLI3 | c.937T>A (p.Ser313Thr) c.760T>A (p.Ser254Thr) n.914T>A c.934T>A (p.Ser312Thr) | |
7 | g.42040130C>A | CA4231016 | GLI3 | c.936G>T (p.Thr312=) c.759G>T (p.Thr253=) n.913G>T c.933G>T (p.Thr311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040130C= | CA1702691214 | GLI3 | c.936G= (p.Thr312=) c.759G= (p.Thr253=) n.913G= c.933G= (p.Thr311=) | |
7 | g.42040130C>G | CA454533517 | GLI3 | c.936G>C (p.Thr312=) c.759G>C (p.Thr253=) n.913G>C c.933G>C (p.Thr311=) | |
7 | g.42040130C>T | CA4231015 | GLI3 | c.936G>A (p.Thr312=) c.759G>A (p.Thr253=) n.913G>A c.933G>A (p.Thr311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040131G>A | CA4231017 | GLI3 | c.935C>T (p.Thr312Met) c.758C>T (p.Thr253Met) n.912C>T c.932C>T (p.Thr311Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.42040131G>C | CA367329598 | GLI3 | c.935C>G (p.Thr312Arg) c.758C>G (p.Thr253Arg) n.912C>G c.932C>G (p.Thr311Arg) | |
7 | g.42040131G= | CA1702691225 | GLI3 | c.935C= (p.Thr312=) c.758C= (p.Thr253=) n.912C= c.932C= (p.Thr311=) | |
7 | g.42040131G>T | CA367329599 | GLI3 | c.935C>A (p.Thr312Lys) c.758C>A (p.Thr253Lys) n.912C>A c.932C>A (p.Thr311Lys) | |
7 | g.42040132T>A | CA367329600 | GLI3 | c.934A>T (p.Thr312Ser) c.757A>T (p.Thr253Ser) n.911A>T c.931A>T (p.Thr311Ser) | |
7 | g.42040132T>C | CA367329601 | GLI3 | c.934A>G (p.Thr312Ala) c.757A>G (p.Thr253Ala) n.911A>G c.931A>G (p.Thr311Ala) | |
7 | g.42040132T>G | CA367329602 | GLI3 | c.934A>C (p.Thr312Pro) c.757A>C (p.Thr253Pro) n.911A>C c.931A>C (p.Thr311Pro) | |
7 | g.42040133C>A | CA367329603 | GLI3 | c.933G>T (p.Arg311Ser) c.756G>T (p.Arg252Ser) n.910G>T c.930G>T (p.Arg310Ser) | |
7 | g.42040133C>G | CA367329604 | GLI3 | c.933G>C (p.Arg311Ser) c.756G>C (p.Arg252Ser) n.910G>C c.930G>C (p.Arg310Ser) | |
7 | g.42040133C>T | CA454533530 | GLI3 | c.933G>A (p.Arg311=) c.756G>A (p.Arg252=) n.910G>A c.930G>A (p.Arg310=) | |
7 | g.42040134C>A | CA367329605 | GLI3 | c.932G>T (p.Arg311Met) c.755G>T (p.Arg252Met) n.909G>T c.929G>T (p.Arg310Met) | |
7 | g.42040134C>G | CA367329606 | GLI3 | c.932G>C (p.Arg311Thr) c.755G>C (p.Arg252Thr) n.909G>C c.929G>C (p.Arg310Thr) | |
7 | g.42040134C>T | CA367329607 | GLI3 | c.932G>A (p.Arg311Lys) c.755G>A (p.Arg252Lys) n.909G>A c.929G>A (p.Arg310Lys) | |
7 | g.42040135T>A | CA367329608 | GLI3 | c.931A>T (p.Arg311Trp) c.754A>T (p.Arg252Trp) n.908A>T c.928A>T (p.Arg310Trp) | |
7 | g.42040135T>C | CA367329609 | GLI3 | c.931A>G (p.Arg311Gly) c.754A>G (p.Arg252Gly) n.908A>G c.928A>G (p.Arg310Gly) | |
7 | g.42040135T>G | CA454533537 | GLI3 | c.931A>C (p.Arg311=) c.754A>C (p.Arg252=) n.908A>C c.928A>C (p.Arg310=) | |
7 | g.42040136del | CA2695207669 | GLI3 | c.931del (p.Arg311GlyfsTer?) c.754del (p.Arg252GlyfsTer?) n.908del c.928del (p.Arg310GlyfsTer?) | |
7 | g.42040136T>A | CA454533538 | GLI3 | c.930A>T (p.Ile310=) c.753A>T (p.Ile251=) n.907A>T c.927A>T (p.Ile309=) | |
7 | g.42040136T>C | CA367329610 | GLI3 | c.930A>G (p.Ile310Met) c.753A>G (p.Ile251Met) n.907A>G c.927A>G (p.Ile309Met) | |
7 | g.42040136T>G | CA454533541 | GLI3 | c.930A>C (p.Ile310=) c.753A>C (p.Ile251=) n.907A>C c.927A>C (p.Ile309=) | |
7 | g.42040137A>C | CA367329611 | GLI3 | c.929T>G (p.Ile310Arg) c.752T>G (p.Ile251Arg) n.906T>G c.926T>G (p.Ile309Arg) | |
7 | g.42040137A>G | CA367329612 | GLI3 | c.929T>C (p.Ile310Thr) c.752T>C (p.Ile251Thr) n.906T>C c.926T>C (p.Ile309Thr) | |
7 | g.42040137A>T | CA367329613 | GLI3 | c.929T>A (p.Ile310Lys) c.752T>A (p.Ile251Lys) n.906T>A c.926T>A (p.Ile309Lys) | gnomAD v4 |
7 | g.42040138T>A | CA367329614 | GLI3 | c.928A>T (p.Ile310Leu) c.751A>T (p.Ile251Leu) n.905A>T c.925A>T (p.Ile309Leu) | |
7 | g.42040138T>C | CA367329615 | GLI3 | c.928A>G (p.Ile310Val) c.751A>G (p.Ile251Val) n.905A>G c.925A>G (p.Ile309Val) | |
7 | g.42040138T>G | CA156907423 | GLI3 | c.928A>C (p.Ile310Leu) c.751A>C (p.Ile251Leu) n.905A>C c.925A>C (p.Ile309Leu) | dbSNP |
7 | g.42040138T= | CA1702691234 | GLI3 | c.928A= (p.Ile310=) c.751A= (p.Ile251=) n.905A= c.925A= (p.Ile309=) | |
7 | g.42040139C>A | CA367329617 | GLI3 | c.927G>T (p.Met309Ile) c.750G>T (p.Met250Ile) n.904G>T c.924G>T (p.Met308Ile) | |
7 | g.42040139C>G | CA367329618 | GLI3 | c.927G>C (p.Met309Ile) c.750G>C (p.Met250Ile) n.904G>C c.924G>C (p.Met308Ile) | |
7 | g.42040139C>T | CA367329616 | GLI3 | c.927G>A (p.Met309Ile) c.750G>A (p.Met250Ile) n.904G>A c.924G>A (p.Met308Ile) | |
7 | g.42040140A>C | CA367329619 | GLI3 | c.926T>G (p.Met309Arg) c.749T>G (p.Met250Arg) n.903T>G c.923T>G (p.Met308Arg) | |
7 | g.42040140A>G | CA367329620 | GLI3 | c.926T>C (p.Met309Thr) c.749T>C (p.Met250Thr) n.903T>C c.923T>C (p.Met308Thr) | |
7 | g.42040140A>T | CA367329621 | GLI3 | c.926T>A (p.Met309Lys) c.749T>A (p.Met250Lys) n.903T>A c.923T>A (p.Met308Lys) | |
7 | g.42040141T>A | CA367329622 | GLI3 | c.925A>T (p.Met309Leu) c.748A>T (p.Met250Leu) n.902A>T c.922A>T (p.Met308Leu) | |
7 | g.42040141T>C | CA367329623 | GLI3 | c.925A>G (p.Met309Val) c.748A>G (p.Met250Val) n.902A>G c.922A>G (p.Met308Val) | ClinVar gnomAD v4 |
7 | g.42040141T>G | CA367329624 | GLI3 | c.925A>C (p.Met309Leu) c.748A>C (p.Met250Leu) n.902A>C c.922A>C (p.Met308Leu) | |
7 | g.42040142G>A | CA454533562 | GLI3 | c.924C>T (p.Thr308=) c.747C>T (p.Thr249=) n.901C>T c.921C>T (p.Thr307=) | |
7 | g.42040142G>C | CA454533564 | GLI3 | c.924C>G (p.Thr308=) c.747C>G (p.Thr249=) n.901C>G c.921C>G (p.Thr307=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040142G= | CA1702691239 | GLI3 | c.924C= (p.Thr308=) c.747C= (p.Thr249=) n.901C= c.921C= (p.Thr307=) | |
7 | g.42040142G>T | CA4231018 | GLI3 | c.924C>A (p.Thr308=) c.747C>A (p.Thr249=) n.901C>A c.921C>A (p.Thr307=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040143del | CA2695207670 | GLI3 | c.924del (p.Met309Ter) c.747del (p.Met250Ter) n.901del c.921del (p.Met308Ter) | |
7 | g.42040143G>A | CA367329625 | GLI3 | c.923C>T (p.Thr308Ile) c.746C>T (p.Thr249Ile) n.900C>T c.920C>T (p.Thr307Ile) | |
7 | g.42040143G>C | CA367329627 | GLI3 | c.923C>G (p.Thr308Ser) c.746C>G (p.Thr249Ser) n.900C>G c.920C>G (p.Thr307Ser) | |
7 | g.42040143G>T | CA367329626 | GLI3 | c.923C>A (p.Thr308Asn) c.746C>A (p.Thr249Asn) n.900C>A c.920C>A (p.Thr307Asn) | |
7 | g.42040144T>A | CA367329628 | GLI3 | c.922A>T (p.Thr308Ser) c.745A>T (p.Thr249Ser) n.899A>T c.919A>T (p.Thr307Ser) | |
7 | g.42040144T>C | CA156907440 | GLI3 | c.922A>G (p.Thr308Ala) c.745A>G (p.Thr249Ala) n.899A>G c.919A>G (p.Thr307Ala) | dbSNP |
7 | g.42040144T>G | CA367329629 | GLI3 | c.922A>C (p.Thr308Pro) c.745A>C (p.Thr249Pro) n.899A>C c.919A>C (p.Thr307Pro) | |
7 | g.42040144T= | CA1702691244 | GLI3 | c.922A= (p.Thr308=) c.745A= (p.Thr249=) n.899A= c.919A= (p.Thr307=) | |
7 | g.42040145C>A | CA367329630 | GLI3 | c.921G>T (p.Gln307His) c.744G>T (p.Gln248His) n.898G>T c.918G>T (p.Gln306His) | |
7 | g.42040145C>G | CA367329631 | GLI3 | c.921G>C (p.Gln307His) c.744G>C (p.Gln248His) n.898G>C c.918G>C (p.Gln306His) | |
7 | g.42040145C>T | CA454533571 | GLI3 | c.921G>A (p.Gln307=) c.744G>A (p.Gln248=) n.898G>A c.918G>A (p.Gln306=) | |
7 | g.42040146T>A | CA367329632 | GLI3 | c.920A>T (p.Gln307Leu) c.743A>T (p.Gln248Leu) n.897A>T c.917A>T (p.Gln306Leu) | |
7 | g.42040146T>C | CA367329634 | GLI3 | c.920A>G (p.Gln307Arg) c.743A>G (p.Gln248Arg) n.897A>G c.917A>G (p.Gln306Arg) | |
7 | g.42040146T>G | CA367329633 | GLI3 | c.920A>C (p.Gln307Pro) c.743A>C (p.Gln248Pro) n.897A>C c.917A>C (p.Gln306Pro) | |
7 | g.42040147G>A | CA367329635 | GLI3 | c.919C>T (p.Gln307Ter) c.742C>T (p.Gln248Ter) n.896C>T c.916C>T (p.Gln306Ter) | |
7 | g.42040147G>C | CA367329636 | GLI3 | c.919C>G (p.Gln307Glu) c.742C>G (p.Gln248Glu) n.896C>G c.916C>G (p.Gln306Glu) | |
7 | g.42040147G>T | CA367329637 | GLI3 | c.919C>A (p.Gln307Lys) c.742C>A (p.Gln248Lys) n.896C>A c.916C>A (p.Gln306Lys) | |
7 | g.42040148A= | CA1702691251 | GLI3 | c.918T= (p.Leu306=) c.741T= (p.Leu247=) n.895T= c.915T= (p.Leu305=) | |
7 | g.42040148A>C | CA4231019 | GLI3 | c.918T>G (p.Leu306=) c.741T>G (p.Leu247=) n.895T>G c.915T>G (p.Leu305=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040148A>G | CA454533584 | GLI3 | c.918T>C (p.Leu306=) c.741T>C (p.Leu247=) n.895T>C c.915T>C (p.Leu305=) | |
7 | g.42040148A>T | CA454533582 | GLI3 | c.918T>A (p.Leu306=) c.741T>A (p.Leu247=) n.895T>A c.915T>A (p.Leu305=) | |
7 | g.42040149A>C | CA367329638 | GLI3 | c.917T>G (p.Leu306Arg) c.740T>G (p.Leu247Arg) n.894T>G c.914T>G (p.Leu305Arg) | |
7 | g.42040149A>G | CA367329639 | GLI3 | c.917T>C (p.Leu306Pro) c.740T>C (p.Leu247Pro) n.894T>C c.914T>C (p.Leu305Pro) | |
7 | g.42040149A>T | CA367329640 | GLI3 | c.917T>A (p.Leu306His) c.740T>A (p.Leu247His) n.894T>A c.914T>A (p.Leu305His) | |
7 | g.42040150G>A | CA367329641 | GLI3 | c.916C>T (p.Leu306Phe) c.739C>T (p.Leu247Phe) n.893C>T c.913C>T (p.Leu305Phe) | |
7 | g.42040150G>C | CA367329642 | GLI3 | c.916C>G (p.Leu306Val) c.739C>G (p.Leu247Val) n.893C>G c.913C>G (p.Leu305Val) | |
7 | g.42040150G>T | CA367329643 | GLI3 | c.916C>A (p.Leu306Ile) c.739C>A (p.Leu247Ile) n.893C>A c.913C>A (p.Leu305Ile) | gnomAD v4 |
7 | g.42040151G>A | CA454533591 | GLI3 | c.915C>T (p.Asp305=) c.738C>T (p.Asp246=) n.892C>T c.912C>T (p.Asp304=) | gnomAD v4 |
7 | g.42040151G>C | CA367329644 | GLI3 | c.915C>G (p.Asp305Glu) c.738C>G (p.Asp246Glu) n.892C>G c.912C>G (p.Asp304Glu) | |
7 | g.42040151G>T | CA367329645 | GLI3 | c.915C>A (p.Asp305Glu) c.738C>A (p.Asp246Glu) n.892C>A c.912C>A (p.Asp304Glu) | |
7 | g.42040152T>A | CA367329648 | GLI3 | c.914A>T (p.Asp305Val) c.737A>T (p.Asp246Val) n.891A>T c.911A>T (p.Asp304Val) | |
7 | g.42040152T>C | CA367329647 | GLI3 | c.914A>G (p.Asp305Gly) c.737A>G (p.Asp246Gly) n.891A>G c.911A>G (p.Asp304Gly) | |
7 | g.42040152T>G | CA367329646 | GLI3 | c.914A>C (p.Asp305Ala) c.737A>C (p.Asp246Ala) n.891A>C c.911A>C (p.Asp304Ala) | |
7 | g.42040153C>A | CA367329649 | GLI3 | c.913G>T (p.Asp305Tyr) c.736G>T (p.Asp246Tyr) n.890G>T c.910G>T (p.Asp304Tyr) | |
7 | g.42040153C>G | CA367329651 | GLI3 | c.913G>C (p.Asp305His) c.736G>C (p.Asp246His) n.890G>C c.910G>C (p.Asp304His) | |
7 | g.42040153C>T | CA367329650 | GLI3 | c.913G>A (p.Asp305Asn) c.736G>A (p.Asp246Asn) n.890G>A c.910G>A (p.Asp304Asn) | |
7 | g.42040154A>C | CA367329652 | GLI3 | c.912T>G (p.Phe304Leu) c.735T>G (p.Phe245Leu) n.889T>G c.909T>G (p.Phe303Leu) | |
7 | g.42040154A>G | CA454533604 | GLI3 | c.912T>C (p.Phe304=) c.735T>C (p.Phe245=) n.889T>C c.909T>C (p.Phe303=) | |
7 | g.42040154A>T | CA367329653 | GLI3 | c.912T>A (p.Phe304Leu) c.735T>A (p.Phe245Leu) n.889T>A c.909T>A (p.Phe303Leu) | |
7 | g.42040155A>C | CA367329654 | GLI3 | c.911T>G (p.Phe304Cys) c.734T>G (p.Phe245Cys) n.888T>G c.908T>G (p.Phe303Cys) | COSMIC |
7 | g.42040155A>G | CA367329655 | GLI3 | c.911T>C (p.Phe304Ser) c.734T>C (p.Phe245Ser) n.888T>C c.908T>C (p.Phe303Ser) | |
7 | g.42040155A>T | CA367329656 | GLI3 | c.911T>A (p.Phe304Tyr) c.734T>A (p.Phe245Tyr) n.888T>A c.908T>A (p.Phe303Tyr) | |
7 | g.42040156A>C | CA367329657 | GLI3 | c.910T>G (p.Phe304Val) c.733T>G (p.Phe245Val) n.887T>G c.907T>G (p.Phe303Val) | |
7 | g.42040156A>G | CA367329658 | GLI3 | c.910T>C (p.Phe304Leu) c.733T>C (p.Phe245Leu) n.887T>C c.907T>C (p.Phe303Leu) | |
7 | g.42040156A>T | CA367329659 | GLI3 | c.910T>A (p.Phe304Ile) c.733T>A (p.Phe245Ile) n.887T>A c.907T>A (p.Phe303Ile) | |
7 | g.42040157G>A | CA454533621 | GLI3 | c.909C>T (p.Ser303=) c.732C>T (p.Ser244=) n.886C>T c.906C>T (p.Ser302=) | |
7 | g.42040157G>C | CA367329660 | GLI3 | c.909C>G (p.Ser303Arg) c.732C>G (p.Ser244Arg) n.886C>G c.906C>G (p.Ser302Arg) | |
7 | g.42040157G>T | CA367329661 | GLI3 | c.909C>A (p.Ser303Arg) c.732C>A (p.Ser244Arg) n.886C>A c.906C>A (p.Ser302Arg) | |
7 | g.42040158C>A | CA367329662 | GLI3 | c.908G>T (p.Ser303Ile) c.731G>T (p.Ser244Ile) n.885G>T c.905G>T (p.Ser302Ile) | |
7 | g.42040158C= | CA1702691254 | GLI3 | c.908G= (p.Ser303=) c.731G= (p.Ser244=) n.885G= c.905G= (p.Ser302=) | |
7 | g.42040158C>G | CA367329663 | GLI3 | c.908G>C (p.Ser303Thr) c.731G>C (p.Ser244Thr) n.885G>C c.905G>C (p.Ser302Thr) | |
7 | g.42040158C>T | CA4231020 | GLI3 | c.908G>A (p.Ser303Asn) c.731G>A (p.Ser244Asn) n.885G>A c.905G>A (p.Ser302Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040159T>A | CA367329664 | GLI3 | c.907A>T (p.Ser303Cys) c.730A>T (p.Ser244Cys) n.884A>T c.904A>T (p.Ser302Cys) | |
7 | g.42040159T>C | CA367329665 | GLI3 | c.907A>G (p.Ser303Gly) c.730A>G (p.Ser244Gly) n.884A>G c.904A>G (p.Ser302Gly) | |
7 | g.42040159T>G | CA367329666 | GLI3 | c.907A>C (p.Ser303Arg) c.730A>C (p.Ser244Arg) n.884A>C c.904A>C (p.Ser302Arg) | |
7 | g.42040160A= | CA1702691262 | GLI3 | c.906T= (p.His302=) c.729T= (p.His243=) n.883T= c.903T= (p.His301=) | |
7 | g.42040160A>C | CA367329667 | GLI3 | c.906T>G (p.His302Gln) c.729T>G (p.His243Gln) n.883T>G c.903T>G (p.His301Gln) | |
7 | g.42040160A>G | CA454533632 | GLI3 | c.906T>C (p.His302=) c.729T>C (p.His243=) n.883T>C c.903T>C (p.His301=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040160A>T | CA367329668 | GLI3 | c.906T>A (p.His302Gln) c.729T>A (p.His243Gln) n.883T>A c.903T>A (p.His301Gln) | |
7 | g.42040161T>A | CA367329669 | GLI3 | c.905A>T (p.His302Leu) c.728A>T (p.His243Leu) n.882A>T c.902A>T (p.His301Leu) | |
7 | g.42040161T>C | CA4231021 | GLI3 | c.905A>G (p.His302Arg) c.728A>G (p.His243Arg) n.882A>G c.902A>G (p.His301Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040161T>G | CA367329670 | GLI3 | c.905A>C (p.His302Pro) c.728A>C (p.His243Pro) n.882A>C c.902A>C (p.His301Pro) | |
7 | g.42040161T= | CA1702691264 | GLI3 | c.905A= (p.His302=) c.728A= (p.His243=) n.882A= c.902A= (p.His301=) |