Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
7 | g.42040162G>A | CA367329671 | GLI3 | c.904C>T (p.His302Tyr) c.727C>T (p.His243Tyr) n.881C>T c.901C>T (p.His301Tyr) | gnomAD v4 |
7 | g.42040162G>C | CA367329672 | GLI3 | c.904C>G (p.His302Asp) c.727C>G (p.His243Asp) n.881C>G c.901C>G (p.His301Asp) | |
7 | g.42040162G>T | CA367329673 | GLI3 | c.904C>A (p.His302Asn) c.727C>A (p.His243Asn) n.881C>A c.901C>A (p.His301Asn) | |
7 | g.42040163A= | CA1702691270 | GLI3 | c.903T= (p.Asp301=) c.726T= (p.Asp242=) n.880T= c.900T= (p.Asp300=) | |
7 | g.42040163A>C | CA367329674 | GLI3 | c.903T>G (p.Asp301Glu) c.726T>G (p.Asp242Glu) n.880T>G c.900T>G (p.Asp300Glu) | |
7 | g.42040163A>G | CA4231022 | GLI3 | c.903T>C (p.Asp301=) c.726T>C (p.Asp242=) n.880T>C c.900T>C (p.Asp300=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040163A>T | CA367329675 | GLI3 | c.903T>A (p.Asp301Glu) c.726T>A (p.Asp242Glu) n.880T>A c.900T>A (p.Asp300Glu) | |
7 | g.42040164T>A | CA367329676 | GLI3 | c.902A>T (p.Asp301Val) c.725A>T (p.Asp242Val) n.879A>T c.899A>T (p.Asp300Val) | |
7 | g.42040164T>C | CA367329677 | GLI3 | c.902A>G (p.Asp301Gly) c.725A>G (p.Asp242Gly) n.879A>G c.899A>G (p.Asp300Gly) | |
7 | g.42040164T>G | CA367329678 | GLI3 | c.902A>C (p.Asp301Ala) c.725A>C (p.Asp242Ala) n.879A>C c.899A>C (p.Asp300Ala) | gnomAD v4 |
7 | g.42040165C>A | CA367329680 | GLI3 | c.901G>T (p.Asp301Tyr) c.724G>T (p.Asp242Tyr) n.878G>T c.898G>T (p.Asp300Tyr) | |
7 | g.42040165C= | CA1702691275 | GLI3 | c.901G= (p.Asp301=) c.724G= (p.Asp242=) n.878G= c.898G= (p.Asp300=) | |
7 | g.42040165C>G | CA367329679 | GLI3 | c.901G>C (p.Asp301His) c.724G>C (p.Asp242His) n.878G>C c.898G>C (p.Asp300His) | |
7 | g.42040165C>T | CA4231023 | GLI3 | c.901G>A (p.Asp301Asn) c.724G>A (p.Asp242Asn) n.878G>A c.898G>A (p.Asp300Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.42040166G>A | CA4231024 | GLI3 | c.900C>T (p.Ser300=) c.723C>T (p.Ser241=) n.877C>T c.897C>T (p.Ser299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040166G>C | CA454533651 | GLI3 | c.900C>G (p.Ser300=) c.723C>G (p.Ser241=) n.877C>G c.897C>G (p.Ser299=) | |
7 | g.42040166G= | CA1702691279 | GLI3 | c.900C= (p.Ser300=) c.723C= (p.Ser241=) n.877C= c.897C= (p.Ser299=) | |
7 | g.42040166G>T | CA454533653 | GLI3 | c.900C>A (p.Ser300=) c.723C>A (p.Ser241=) n.877C>A c.897C>A (p.Ser299=) | |
7 | g.42040167_42040169dup | CA2580077117 | GLI3 | c.898_900dup (p.Ser300_Asp301insSer) c.721_723dup (p.Ser241_Asp242insSer) n.875_877dup c.895_897dup (p.Ser299_Asp300insSer) | ClinVar |
7 | g.42040167G>A | CA367329681 | GLI3 | c.899C>T (p.Ser300Phe) c.722C>T (p.Ser241Phe) n.876C>T c.896C>T (p.Ser299Phe) | |
7 | g.42040167G>C | CA367329682 | GLI3 | c.899C>G (p.Ser300Cys) c.722C>G (p.Ser241Cys) n.876C>G c.896C>G (p.Ser299Cys) | |
7 | g.42040167G>T | CA367329683 | GLI3 | c.899C>A (p.Ser300Tyr) c.722C>A (p.Ser241Tyr) n.876C>A c.896C>A (p.Ser299Tyr) | gnomAD v4 |
7 | g.42040168A>C | CA367329684 | GLI3 | c.898T>G (p.Ser300Ala) c.721T>G (p.Ser241Ala) n.875T>G c.895T>G (p.Ser299Ala) | |
7 | g.42040168A>G | CA367329685 | GLI3 | c.898T>C (p.Ser300Pro) c.721T>C (p.Ser241Pro) n.875T>C c.895T>C (p.Ser299Pro) | gnomAD v4 |
7 | g.42040168A>T | CA367329686 | GLI3 | c.898T>A (p.Ser300Thr) c.721T>A (p.Ser241Thr) n.875T>A c.895T>A (p.Ser299Thr) | |
7 | g.42040169G>A | CA156907476 | GLI3 | c.897C>T (p.Leu299=) c.720C>T (p.Leu240=) n.874C>T c.894C>T (p.Leu298=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040169G>C | CA454533666 | GLI3 | c.897C>G (p.Leu299=) c.720C>G (p.Leu240=) n.874C>G c.894C>G (p.Leu298=) | dbSNP |
7 | g.42040169G= | CA1702691284 | GLI3 | c.897C= (p.Leu299=) c.720C= (p.Leu240=) n.874C= c.894C= (p.Leu298=) | |
7 | g.42040169G>T | CA454533668 | GLI3 | c.897C>A (p.Leu299=) c.720C>A (p.Leu240=) n.874C>A c.894C>A (p.Leu298=) | |
7 | g.42040170A= | CA1702691289 | GLI3 | c.896T= (p.Leu299=) c.719T= (p.Leu240=) n.873T= c.893T= (p.Leu298=) | |
7 | g.42040170A>C | CA367329687 | GLI3 | c.896T>G (p.Leu299Arg) c.719T>G (p.Leu240Arg) n.873T>G c.893T>G (p.Leu298Arg) | |
7 | g.42040170A>G | CA367329688 | GLI3 | c.896T>C (p.Leu299Pro) c.719T>C (p.Leu240Pro) n.873T>C c.893T>C (p.Leu298Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040170A>T | CA367329689 | GLI3 | c.896T>A (p.Leu299His) c.719T>A (p.Leu240His) n.873T>A c.893T>A (p.Leu298His) | |
7 | g.42040171G>A | CA367329690 | GLI3 | c.895C>T (p.Leu299Phe) c.718C>T (p.Leu240Phe) n.872C>T c.892C>T (p.Leu298Phe) | |
7 | g.42040171G>C | CA367329691 | GLI3 | c.895C>G (p.Leu299Val) c.718C>G (p.Leu240Val) n.872C>G c.892C>G (p.Leu298Val) | |
7 | g.42040171G>T | CA367329692 | GLI3 | c.895C>A (p.Leu299Ile) c.718C>A (p.Leu240Ile) n.872C>A c.892C>A (p.Leu298Ile) | |
7 | g.42040172T>A | CA454533675 | GLI3 | c.894A>T (p.Pro298=) c.717A>T (p.Pro239=) n.871A>T c.891A>T (p.Pro297=) | |
7 | g.42040172T>C | CA454533676 | GLI3 | c.894A>G (p.Pro298=) c.717A>G (p.Pro239=) n.871A>G c.891A>G (p.Pro297=) | |
7 | g.42040172T>G | CA4231025 | GLI3 | c.894A>C (p.Pro298=) c.717A>C (p.Pro239=) n.871A>C c.891A>C (p.Pro297=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040172T= | CA1702691296 | GLI3 | c.894A= (p.Pro298=) c.717A= (p.Pro239=) n.871A= c.891A= (p.Pro297=) | |
7 | g.42040173G>A | CA367329695 | GLI3 | c.893C>T (p.Pro298Leu) c.716C>T (p.Pro239Leu) n.870C>T c.890C>T (p.Pro297Leu) | gnomAD v4 |
7 | g.42040173G>C | CA367329693 | GLI3 | c.893C>G (p.Pro298Arg) c.716C>G (p.Pro239Arg) n.870C>G c.890C>G (p.Pro297Arg) | |
7 | g.42040173G>T | CA367329694 | GLI3 | c.893C>A (p.Pro298Gln) c.716C>A (p.Pro239Gln) n.870C>A c.890C>A (p.Pro297Gln) | |
7 | g.42040174G>A | CA367329696 | GLI3 | c.892C>T (p.Pro298Ser) c.715C>T (p.Pro239Ser) n.869C>T c.889C>T (p.Pro297Ser) | |
7 | g.42040174G>C | CA367329697 | GLI3 | c.892C>G (p.Pro298Ala) c.715C>G (p.Pro239Ala) n.869C>G c.889C>G (p.Pro297Ala) | |
7 | g.42040174G>T | CA367329698 | GLI3 | c.892C>A (p.Pro298Thr) c.715C>A (p.Pro239Thr) n.869C>A c.889C>A (p.Pro297Thr) | |
7 | g.42040175T>A | CA454533683 | GLI3 | c.891A>T (p.Ser297=) c.714A>T (p.Ser238=) n.868A>T c.888A>T (p.Ser296=) | |
7 | g.42040175T>C | CA454533684 | GLI3 | c.891A>G (p.Ser297=) c.714A>G (p.Ser238=) n.868A>G c.888A>G (p.Ser296=) | gnomAD v4 |
7 | g.42040175T>G | CA454533686 | GLI3 | c.891A>C (p.Ser297=) c.714A>C (p.Ser238=) n.868A>C c.888A>C (p.Ser296=) | |
7 | g.42040176G>A | CA367329699 | GLI3 | c.890C>T (p.Ser297Leu) c.713C>T (p.Ser238Leu) n.867C>T c.887C>T (p.Ser296Leu) | |
7 | g.42040176G>C | CA367329700 | GLI3 | c.890C>G (p.Ser297Ter) c.713C>G (p.Ser238Ter) n.867C>G c.887C>G (p.Ser296Ter) | |
7 | g.42040176G>T | CA367329701 | GLI3 | c.890C>A (p.Ser297Ter) c.713C>A (p.Ser238Ter) n.867C>A c.887C>A (p.Ser296Ter) | |
7 | g.42040177A= | CA1702691301 | GLI3 | c.889T= (p.Ser297=) c.712T= (p.Ser238=) n.866T= c.886T= (p.Ser296=) | |
7 | g.42040177A>C | CA367329702 | GLI3 | c.889T>G (p.Ser297Ala) c.712T>G (p.Ser238Ala) n.866T>G c.886T>G (p.Ser296Ala) | |
7 | g.42040177A>G | CA367329703 | GLI3 | c.889T>C (p.Ser297Pro) c.712T>C (p.Ser238Pro) n.866T>C c.886T>C (p.Ser296Pro) | |
7 | g.42040177A>T | CA367329704 | GLI3 | c.889T>A (p.Ser297Thr) c.712T>A (p.Ser238Thr) n.866T>A c.886T>A (p.Ser296Thr) | dbSNP gnomAD v4 |
7 | g.42040178T>A | CA454533694 | GLI3 | c.888A>T (p.Ile296=) c.711A>T (p.Ile237=) n.865A>T c.885A>T (p.Ile295=) | |
7 | g.42040178T>C | CA367329705 | GLI3 | c.888A>G (p.Ile296Met) c.711A>G (p.Ile237Met) n.865A>G c.885A>G (p.Ile295Met) | gnomAD v4 |
7 | g.42040178T>G | CA454533697 | GLI3 | c.888A>C (p.Ile296=) c.711A>C (p.Ile237=) n.865A>C c.885A>C (p.Ile295=) | |
7 | g.42040179A>C | CA367329706 | GLI3 | c.887T>G (p.Ile296Arg) c.710T>G (p.Ile237Arg) n.864T>G c.884T>G (p.Ile295Arg) | |
7 | g.42040179A>G | CA367329707 | GLI3 | c.887T>C (p.Ile296Thr) c.710T>C (p.Ile237Thr) n.864T>C c.884T>C (p.Ile295Thr) | |
7 | g.42040179A>T | CA367329708 | GLI3 | c.887T>A (p.Ile296Lys) c.710T>A (p.Ile237Lys) n.864T>A c.884T>A (p.Ile295Lys) | |
7 | g.42040180T>A | CA367329709 | GLI3 | c.886A>T (p.Ile296Leu) c.709A>T (p.Ile237Leu) n.863A>T c.883A>T (p.Ile295Leu) | |
7 | g.42040180T>C | CA367329710 | GLI3 | c.886A>G (p.Ile296Val) c.709A>G (p.Ile237Val) n.863A>G c.883A>G (p.Ile295Val) | dbSNP gnomAD v4 |
7 | g.42040180T>G | CA4231026 | GLI3 | c.886A>C (p.Ile296Leu) c.709A>C (p.Ile237Leu) n.863A>C c.883A>C (p.Ile295Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040180T= | CA1702691309 | GLI3 | c.886A= (p.Ile296=) c.709A= (p.Ile237=) n.863A= c.883A= (p.Ile295=) | |
7 | g.42040180_42040181delinsTG | CA1702691312 | GLI3 | c.885_886delinsCA (p.Ser295=) c.708_709delinsCA (p.Ser236=) n.862_863delinsCA c.882_883delinsCA (p.Ser294=) | |
7 | g.42040181G>A | CA454533705 | GLI3 | c.885C>T (p.Ser295=) c.708C>T (p.Ser236=) n.862C>T c.882C>T (p.Ser294=) | gnomAD v4 |
7 | g.42040181G>C | CA454533707 | GLI3 | c.885C>G (p.Ser295=) c.708C>G (p.Ser236=) n.862C>G c.882C>G (p.Ser294=) | |
7 | g.42040181G>T | CA454533709 | GLI3 | c.885C>A (p.Ser295=) c.708C>A (p.Ser236=) n.862C>A c.882C>A (p.Ser294=) | |
7 | g.42040182del | CA916082926 | GLI3 | c.885del (p.Ile296TyrfsTer14) c.708del (p.Ile237TyrfsTer14) n.862del c.882del (p.Ile295TyrfsTer14) | ClinVar dbSNP |
7 | g.42040182G>A | CA367329711 | GLI3 | c.884C>T (p.Ser295Phe) c.707C>T (p.Ser236Phe) n.861C>T c.881C>T (p.Ser294Phe) | |
7 | g.42040182G>C | CA367329713 | GLI3 | c.884C>G (p.Ser295Cys) c.707C>G (p.Ser236Cys) n.861C>G c.881C>G (p.Ser294Cys) | |
7 | g.42040182G>T | CA367329712 | GLI3 | c.884C>A (p.Ser295Tyr) c.707C>A (p.Ser236Tyr) n.861C>A c.881C>A (p.Ser294Tyr) | |
7 | g.42040183A= | CA1702691323 | GLI3 | c.883T= (p.Ser295=) c.706T= (p.Ser236=) n.860T= c.880T= (p.Ser294=) | |
7 | g.42040183A>C | CA367329714 | GLI3 | c.883T>G (p.Ser295Ala) c.706T>G (p.Ser236Ala) n.860T>G c.880T>G (p.Ser294Ala) | |
7 | g.42040183A>G | CA4231027 | GLI3 | c.883T>C (p.Ser295Pro) c.706T>C (p.Ser236Pro) n.860T>C c.880T>C (p.Ser294Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.42040183A>T | CA367329715 | GLI3 | c.883T>A (p.Ser295Thr) c.706T>A (p.Ser236Thr) n.860T>A c.880T>A (p.Ser294Thr) | |
7 | g.42040184C>A | CA454533720 | GLI3 | c.882G>T (p.Leu294=) c.705G>T (p.Leu235=) n.859G>T c.879G>T (p.Leu293=) | COSMIC |
7 | g.42040184C>G | CA454533722 | GLI3 | c.882G>C (p.Leu294=) c.705G>C (p.Leu235=) n.859G>C c.879G>C (p.Leu293=) | gnomAD v4 |
7 | g.42040184C>T | CA454533717 | GLI3 | c.882G>A (p.Leu294=) c.705G>A (p.Leu235=) n.859G>A c.879G>A (p.Leu293=) | |
7 | g.42040184_42040189delinsCAGTGT | CA1702691326 | GLI3 | c.877_882delinsACACTG (p.Thr293=) c.700_705delinsACACTG (p.Thr234=) n.854_859delinsACACTG c.874_879delinsACACTG (p.Thr292=) | |
7 | g.42040185A>C | CA367329716 | GLI3 | c.881T>G (p.Leu294Arg) c.704T>G (p.Leu235Arg) n.858T>G c.878T>G (p.Leu293Arg) | |
7 | g.42040185A>G | CA367329717 | GLI3 | c.881T>C (p.Leu294Pro) c.704T>C (p.Leu235Pro) n.858T>C c.878T>C (p.Leu293Pro) | |
7 | g.42040185A>T | CA367329718 | GLI3 | c.881T>A (p.Leu294Gln) c.704T>A (p.Leu235Gln) n.858T>A c.878T>A (p.Leu293Gln) | |
7 | g.42040186_42040190del | CA916082927 | GLI3 | c.877_881del (p.Thr293ValfsTer9) c.700_704del (p.Thr234ValfsTer9) n.854_858del c.874_878del (p.Thr292ValfsTer9) | ClinVar dbSNP |
7 | g.42040186G>A | CA454533727 | GLI3 | c.880C>T (p.Leu294=) c.703C>T (p.Leu235=) n.857C>T c.877C>T (p.Leu293=) | dbSNP |
7 | g.42040186G>C | CA367329719 | GLI3 | c.880C>G (p.Leu294Val) c.703C>G (p.Leu235Val) n.857C>G c.877C>G (p.Leu293Val) | |
7 | g.42040186G= | CA1702691334 | GLI3 | c.880C= (p.Leu294=) c.703C= (p.Leu235=) n.857C= c.877C= (p.Leu293=) | |
7 | g.42040186G>T | CA367329720 | GLI3 | c.880C>A (p.Leu294Met) c.703C>A (p.Leu235Met) n.857C>A c.877C>A (p.Leu293Met) | |
7 | g.42040187T>A | CA454533734 | GLI3 | c.879A>T (p.Thr293=) c.702A>T (p.Thr234=) n.856A>T c.876A>T (p.Thr292=) | |
7 | g.42040187T>C | CA454533730 | GLI3 | c.879A>G (p.Thr293=) c.702A>G (p.Thr234=) n.856A>G c.876A>G (p.Thr292=) | gnomAD v4 |
7 | g.42040187T>G | CA454533732 | GLI3 | c.879A>C (p.Thr293=) c.702A>C (p.Thr234=) n.856A>C c.876A>C (p.Thr292=) | |
7 | g.42040188G>A | CA367329721 | GLI3 | c.878C>T (p.Thr293Ile) c.701C>T (p.Thr234Ile) n.855C>T c.875C>T (p.Thr292Ile) | |
7 | g.42040188G>C | CA367329722 | GLI3 | c.878C>G (p.Thr293Arg) c.701C>G (p.Thr234Arg) n.855C>G c.875C>G (p.Thr292Arg) | |
7 | g.42040188G>T | CA367329723 | GLI3 | c.878C>A (p.Thr293Lys) c.701C>A (p.Thr234Lys) n.855C>A c.875C>A (p.Thr292Lys) | |
7 | g.42040189T>A | CA367329726 | GLI3 | c.877A>T (p.Thr293Ser) c.700A>T (p.Thr234Ser) n.854A>T c.874A>T (p.Thr292Ser) | |
7 | g.42040189T>C | CA367329724 | GLI3 | c.877A>G (p.Thr293Ala) c.700A>G (p.Thr234Ala) n.854A>G c.874A>G (p.Thr292Ala) | gnomAD v4 |
7 | g.42040189T>G | CA367329725 | GLI3 | c.877A>C (p.Thr293Pro) c.700A>C (p.Thr234Pro) n.854A>C c.874A>C (p.Thr292Pro) | |
7 | g.42040190A= | CA1702691337 | GLI3 | c.876T= (p.Arg292=) c.699T= (p.Arg233=) n.853T= c.873T= (p.Arg291=) | |
7 | g.42040190A>C | CA454533736 | GLI3 | c.876T>G (p.Arg292=) c.699T>G (p.Arg233=) n.853T>G c.873T>G (p.Arg291=) | |
7 | g.42040190A>G | CA454533738 | GLI3 | c.876T>C (p.Arg292=) c.699T>C (p.Arg233=) n.853T>C c.873T>C (p.Arg291=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040190A>T | CA454533737 | GLI3 | c.876T>A (p.Arg292=) c.699T>A (p.Arg233=) n.853T>A c.873T>A (p.Arg291=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.42040191C>A | CA367329727 | GLI3 | c.875G>T (p.Arg292Leu) c.698G>T (p.Arg233Leu) n.852G>T c.872G>T (p.Arg291Leu) | |
7 | g.42040191C= | CA1702691344 | GLI3 | c.875G= (p.Arg292=) c.698G= (p.Arg233=) n.852G= c.872G= (p.Arg291=) | |
7 | g.42040191C>G | CA367329728 | GLI3 | c.875G>C (p.Arg292Pro) c.698G>C (p.Arg233Pro) n.852G>C c.872G>C (p.Arg291Pro) | |
7 | g.42040191C>T | CA4231028 | GLI3 | c.875G>A (p.Arg292His) c.698G>A (p.Arg233His) n.852G>A c.872G>A (p.Arg291His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.42040192G>A | CA367329729 | GLI3 | c.874C>T (p.Arg292Cys) c.697C>T (p.Arg233Cys) n.851C>T c.871C>T (p.Arg291Cys) | dbSNP gnomAD v4 |
7 | g.42040192G>C | CA367329730 | GLI3 | c.874C>G (p.Arg292Gly) c.697C>G (p.Arg233Gly) n.851C>G c.871C>G (p.Arg291Gly) | |
7 | g.42040192G= | CA1702691349 | GLI3 | c.874C= (p.Arg292=) c.697C= (p.Arg233=) n.851C= c.871C= (p.Arg291=) | |
7 | g.42040192G>T | CA367329731 | GLI3 | c.874C>A (p.Arg292Ser) c.697C>A (p.Arg233Ser) n.851C>A c.871C>A (p.Arg291Ser) | |
7 | g.42040193T>A | CA367329732 | GLI3 | c.873A>T (p.Lys291Asn) c.696A>T (p.Lys232Asn) n.850A>T c.870A>T (p.Lys290Asn) | |
7 | g.42040193T>C | CA454533746 | GLI3 | c.873A>G (p.Lys291=) c.696A>G (p.Lys232=) n.850A>G c.870A>G (p.Lys290=) | dbSNP |
7 | g.42040193T>G | CA367329733 | GLI3 | c.873A>C (p.Lys291Asn) c.696A>C (p.Lys232Asn) n.850A>C c.870A>C (p.Lys290Asn) | |
7 | g.42040196del | CA2682511709 | GLI3 | c.873del (p.Lys291AsnfsTer19) c.696del (p.Lys232AsnfsTer19) n.850del c.870del (p.Lys290AsnfsTer19) | gnomAD v4 |
7 | g.42040194T>A | CA367329734 | GLI3 | c.872A>T (p.Lys291Ile) c.695A>T (p.Lys232Ile) n.849A>T c.869A>T (p.Lys290Ile) | |
7 | g.42040194T>C | CA367329735 | GLI3 | c.872A>G (p.Lys291Arg) c.695A>G (p.Lys232Arg) n.849A>G c.869A>G (p.Lys290Arg) | |
7 | g.42040194T>G | CA367329736 | GLI3 | c.872A>C (p.Lys291Thr) c.695A>C (p.Lys232Thr) n.849A>C c.869A>C (p.Lys290Thr) | |
7 | g.42040195T>A | CA367329738 | GLI3 | c.871A>T (p.Lys291Ter) c.694A>T (p.Lys232Ter) n.848A>T c.868A>T (p.Lys290Ter) | |
7 | g.42040195T>C | CA367329739 | GLI3 | c.871A>G (p.Lys291Glu) c.694A>G (p.Lys232Glu) n.848A>G c.868A>G (p.Lys290Glu) | |
7 | g.42040195T>G | CA367329737 | GLI3 | c.871A>C (p.Lys291Gln) c.694A>C (p.Lys232Gln) n.848A>C c.868A>C (p.Lys290Gln) |