Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.41966458_41966493dup | CA1702661308 | GLI3 | c.2593_2628dup (p.Ser876_Ser877insSerGlyIleSerProCysPheSerSerArgArgSer) c.2419_2454dup (p.Ser818_Ser819insSerGlyIleSerProCysPheSerSerArgArgSer) n.2570_2605dup c.2416_2451dup (p.Ser817_Ser818insSerGlyIleSerProCysPheSerSerArgArgSer) c.2590_2625dup (p.Ser875_Ser876insSerGlyIleSerProCysPheSerSerArgArgSer) | ClinVar dbSNP gnomAD v4 |
7 | g.41966450_41966461dup | CA2682510252 | GLI3 | c.2612_2623dup (p.Arg874_Arg875insLeuSerSerArg) c.2438_2449dup (p.Arg816_Arg817insLeuSerSerArg) n.2589_2600dup c.2435_2446dup (p.Arg815_Arg816insLeuSerSerArg) c.2609_2620dup (p.Arg873_Arg874insLeuSerSerArg) | gnomAD v4 |
7 | g.41966458_41966460del | CA2596327538 | GLI3 | c.2614_2616del (p.Ser872del) c.2440_2442del (p.Ser814del) n.2591_2593del c.2437_2439del (p.Ser813del) c.2611_2613del (p.Ser871del) | gnomAD v3 gnomAD v4 |
7 | g.41966460G>A | CA454662700 | GLI3 | c.2613C>T (p.Phe871=) c.2439C>T (p.Phe813=) n.2590C>T c.2436C>T (p.Phe812=) c.2610C>T (p.Phe870=) | |
7 | g.41966460G>C | CA367320711 | GLI3 | c.2613C>G (p.Phe871Leu) c.2439C>G (p.Phe813Leu) n.2590C>G c.2436C>G (p.Phe812Leu) c.2610C>G (p.Phe870Leu) | |
7 | g.41966460G>T | CA367320712 | GLI3 | c.2613C>A (p.Phe871Leu) c.2439C>A (p.Phe813Leu) n.2590C>A c.2436C>A (p.Phe812Leu) c.2610C>A (p.Phe870Leu) | |
7 | g.41966461A= | CA1702661319 | GLI3 | c.2612T= (p.Phe871=) c.2438T= (p.Phe813=) n.2589T= c.2435T= (p.Phe812=) c.2609T= (p.Phe870=) | |
7 | g.41966461A>C | CA367320713 | GLI3 | c.2612T>G (p.Phe871Cys) c.2438T>G (p.Phe813Cys) n.2589T>G c.2435T>G (p.Phe812Cys) c.2609T>G (p.Phe870Cys) | |
7 | g.41966461A>G | CA367320714 | GLI3 | c.2612T>C (p.Phe871Ser) c.2438T>C (p.Phe813Ser) n.2589T>C c.2435T>C (p.Phe812Ser) c.2609T>C (p.Phe870Ser) | |
7 | g.41966461A>T | CA367320715 | GLI3 | c.2612T>A (p.Phe871Tyr) c.2438T>A (p.Phe813Tyr) n.2589T>A c.2435T>A (p.Phe812Tyr) c.2609T>A (p.Phe870Tyr) | dbSNP gnomAD v4 |
7 | g.41966462A>C | CA367320718 | GLI3 | c.2611T>G (p.Phe871Val) c.2437T>G (p.Phe813Val) n.2588T>G c.2434T>G (p.Phe812Val) c.2608T>G (p.Phe870Val) | |
7 | g.41966462A>G | CA367320716 | GLI3 | c.2611T>C (p.Phe871Leu) c.2437T>C (p.Phe813Leu) n.2588T>C c.2434T>C (p.Phe812Leu) c.2608T>C (p.Phe870Leu) | |
7 | g.41966462A>T | CA367320717 | GLI3 | c.2611T>A (p.Phe871Ile) c.2437T>A (p.Phe813Ile) n.2588T>A c.2434T>A (p.Phe812Ile) c.2608T>A (p.Phe870Ile) | |
7 | g.41966463G>A | CA454662703 | GLI3 | c.2610C>T (p.Cys870=) c.2436C>T (p.Cys812=) n.2587C>T c.2433C>T (p.Cys811=) c.2607C>T (p.Cys869=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966463G>C | CA367320719 | GLI3 | c.2610C>G (p.Cys870Trp) c.2436C>G (p.Cys812Trp) n.2587C>G c.2433C>G (p.Cys811Trp) c.2607C>G (p.Cys869Trp) | |
7 | g.41966463G= | CA1702661320 | GLI3 | c.2610C= (p.Cys870=) c.2436C= (p.Cys812=) n.2587C= c.2433C= (p.Cys811=) c.2607C= (p.Cys869=) | |
7 | g.41966463G>T | CA367320720 | GLI3 | c.2610C>A (p.Cys870Ter) c.2436C>A (p.Cys812Ter) n.2587C>A c.2433C>A (p.Cys811Ter) c.2607C>A (p.Cys869Ter) | ClinVar |
7 | g.41966464C>A | CA367320721 | GLI3 | c.2609G>T (p.Cys870Phe) c.2435G>T (p.Cys812Phe) n.2586G>T c.2432G>T (p.Cys811Phe) c.2606G>T (p.Cys869Phe) | |
7 | g.41966464C>G | CA367320722 | GLI3 | c.2609G>C (p.Cys870Ser) c.2435G>C (p.Cys812Ser) n.2586G>C c.2432G>C (p.Cys811Ser) c.2606G>C (p.Cys869Ser) | |
7 | g.41966464C>T | CA367320723 | GLI3 | c.2609G>A (p.Cys870Tyr) c.2435G>A (p.Cys812Tyr) n.2586G>A c.2432G>A (p.Cys811Tyr) c.2606G>A (p.Cys869Tyr) | |
7 | g.41966465A>C | CA367320724 | GLI3 | c.2608T>G (p.Cys870Gly) c.2434T>G (p.Cys812Gly) n.2585T>G c.2431T>G (p.Cys811Gly) c.2605T>G (p.Cys869Gly) | ClinVar |
7 | g.41966465A>G | CA367320726 | GLI3 | c.2608T>C (p.Cys870Arg) c.2434T>C (p.Cys812Arg) n.2585T>C c.2431T>C (p.Cys811Arg) c.2605T>C (p.Cys869Arg) | |
7 | g.41966465A>T | CA367320725 | GLI3 | c.2608T>A (p.Cys870Ser) c.2434T>A (p.Cys812Ser) n.2585T>A c.2431T>A (p.Cys811Ser) c.2605T>A (p.Cys869Ser) | |
7 | g.41966466G>A | CA156907566 | GLI3 | c.2607C>T (p.Pro869=) c.2433C>T (p.Pro811=) n.2584C>T c.2430C>T (p.Pro810=) c.2604C>T (p.Pro868=) | dbSNP |
7 | g.41966466G>C | CA454662707 | GLI3 | c.2607C>G (p.Pro869=) c.2433C>G (p.Pro811=) n.2584C>G c.2430C>G (p.Pro810=) c.2604C>G (p.Pro868=) | |
7 | g.41966466G= | CA1702661321 | GLI3 | c.2607C= (p.Pro869=) c.2433C= (p.Pro811=) n.2584C= c.2430C= (p.Pro810=) c.2604C= (p.Pro868=) | |
7 | g.41966466G>T | CA454662708 | GLI3 | c.2607C>A (p.Pro869=) c.2433C>A (p.Pro811=) n.2584C>A c.2430C>A (p.Pro810=) c.2604C>A (p.Pro868=) | |
7 | g.41966467G>A | CA367320727 | GLI3 | c.2606C>T (p.Pro869Leu) c.2432C>T (p.Pro811Leu) n.2583C>T c.2429C>T (p.Pro810Leu) c.2603C>T (p.Pro868Leu) | COSMIC |
7 | g.41966467G>C | CA367320728 | GLI3 | c.2606C>G (p.Pro869Arg) c.2432C>G (p.Pro811Arg) n.2583C>G c.2429C>G (p.Pro810Arg) c.2603C>G (p.Pro868Arg) | |
7 | g.41966467G>T | CA367320729 | GLI3 | c.2606C>A (p.Pro869His) c.2432C>A (p.Pro811His) n.2583C>A c.2429C>A (p.Pro810His) c.2603C>A (p.Pro868His) | |
7 | g.41966468G>A | CA367320730 | GLI3 | c.2605C>T (p.Pro869Ser) c.2431C>T (p.Pro811Ser) n.2582C>T c.2428C>T (p.Pro810Ser) c.2602C>T (p.Pro868Ser) | ClinVar dbSNP |
7 | g.41966468G>C | CA367320731 | GLI3 | c.2605C>G (p.Pro869Ala) c.2431C>G (p.Pro811Ala) n.2582C>G c.2428C>G (p.Pro810Ala) c.2602C>G (p.Pro868Ala) | |
7 | g.41966468G= | CA1702661322 | GLI3 | c.2605C= (p.Pro869=) c.2431C= (p.Pro811=) n.2582C= c.2428C= (p.Pro810=) c.2602C= (p.Pro868=) | |
7 | g.41966468G>T | CA367320732 | GLI3 | c.2605C>A (p.Pro869Thr) c.2431C>A (p.Pro811Thr) n.2582C>A c.2428C>A (p.Pro810Thr) c.2602C>A (p.Pro868Thr) | |
7 | g.41966469C>A | CA454662709 | GLI3 | c.2604G>T (p.Ser868=) c.2430G>T (p.Ser810=) n.2581G>T c.2427G>T (p.Ser809=) c.2601G>T (p.Ser867=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966469C= | CA1702661323 | GLI3 | c.2604G= (p.Ser868=) c.2430G= (p.Ser810=) n.2581G= c.2427G= (p.Ser809=) c.2601G= (p.Ser867=) | |
7 | g.41966469C>G | CA4230564 | GLI3 | c.2604G>C (p.Ser868=) c.2430G>C (p.Ser810=) n.2581G>C c.2427G>C (p.Ser809=) c.2601G>C (p.Ser867=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966469C>T | CA156907589 | GLI3 | c.2604G>A (p.Ser868=) c.2430G>A (p.Ser810=) n.2581G>A c.2427G>A (p.Ser809=) c.2601G>A (p.Ser867=) | ClinVar dbSNP gnomAD v4 |
7 | g.41966470G>A | CA367320733 | GLI3 | c.2603C>T (p.Ser868Leu) c.2429C>T (p.Ser810Leu) n.2580C>T c.2426C>T (p.Ser809Leu) c.2600C>T (p.Ser867Leu) | |
7 | g.41966470G>C | CA367320735 | GLI3 | c.2603C>G (p.Ser868Trp) c.2429C>G (p.Ser810Trp) n.2580C>G c.2426C>G (p.Ser809Trp) c.2600C>G (p.Ser867Trp) | |
7 | g.41966470G>T | CA367320734 | GLI3 | c.2603C>A (p.Ser868Ter) c.2429C>A (p.Ser810Ter) n.2580C>A c.2426C>A (p.Ser809Ter) c.2600C>A (p.Ser867Ter) | |
7 | g.41966471A>C | CA367320736 | GLI3 | c.2602T>G (p.Ser868Ala) c.2428T>G (p.Ser810Ala) n.2579T>G c.2425T>G (p.Ser809Ala) c.2599T>G (p.Ser867Ala) | |
7 | g.41966471A>G | CA367320737 | GLI3 | c.2602T>C (p.Ser868Pro) c.2428T>C (p.Ser810Pro) n.2579T>C c.2425T>C (p.Ser809Pro) c.2599T>C (p.Ser867Pro) | |
7 | g.41966471A>T | CA367320738 | GLI3 | c.2602T>A (p.Ser868Thr) c.2428T>A (p.Ser810Thr) n.2579T>A c.2425T>A (p.Ser809Thr) c.2599T>A (p.Ser867Thr) | |
7 | g.41966472G>A | CA454662710 | GLI3 | c.2601C>T (p.Ile867=) c.2427C>T (p.Ile809=) n.2578C>T c.2424C>T (p.Ile808=) c.2598C>T (p.Ile866=) | gnomAD v4 |
7 | g.41966472G>C | CA367320739 | GLI3 | c.2601C>G (p.Ile867Met) c.2427C>G (p.Ile809Met) n.2578C>G c.2424C>G (p.Ile808Met) c.2598C>G (p.Ile866Met) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966472G= | CA1702661324 | GLI3 | c.2601C= (p.Ile867=) c.2427C= (p.Ile809=) n.2578C= c.2424C= (p.Ile808=) c.2598C= (p.Ile866=) | |
7 | g.41966472G>T | CA454662712 | GLI3 | c.2601C>A (p.Ile867=) c.2427C>A (p.Ile809=) n.2578C>A c.2424C>A (p.Ile808=) c.2598C>A (p.Ile866=) | gnomAD v4 |
7 | g.41966473A>C | CA367320742 | GLI3 | c.2600T>G (p.Ile867Ser) c.2426T>G (p.Ile809Ser) n.2577T>G c.2423T>G (p.Ile808Ser) c.2597T>G (p.Ile866Ser) | |
7 | g.41966473A>G | CA367320740 | GLI3 | c.2600T>C (p.Ile867Thr) c.2426T>C (p.Ile809Thr) n.2577T>C c.2423T>C (p.Ile808Thr) c.2597T>C (p.Ile866Thr) | |
7 | g.41966473A>T | CA367320741 | GLI3 | c.2600T>A (p.Ile867Asn) c.2426T>A (p.Ile809Asn) n.2577T>A c.2423T>A (p.Ile808Asn) c.2597T>A (p.Ile866Asn) | |
7 | g.41966474T>A | CA367320743 | GLI3 | c.2599A>T (p.Ile867Phe) c.2425A>T (p.Ile809Phe) n.2576A>T c.2422A>T (p.Ile808Phe) c.2596A>T (p.Ile866Phe) | gnomAD v4 |
7 | g.41966474T>C | CA367320744 | GLI3 | c.2599A>G (p.Ile867Val) c.2425A>G (p.Ile809Val) n.2576A>G c.2422A>G (p.Ile808Val) c.2596A>G (p.Ile866Val) | |
7 | g.41966474T>G | CA367320745 | GLI3 | c.2599A>C (p.Ile867Leu) c.2425A>C (p.Ile809Leu) n.2576A>C c.2422A>C (p.Ile808Leu) c.2596A>C (p.Ile866Leu) | |
7 | g.41966475C>A | CA454662713 | GLI3 | c.2598G>T (p.Gly866=) c.2424G>T (p.Gly808=) n.2575G>T c.2421G>T (p.Gly807=) c.2595G>T (p.Gly865=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966475C= | CA1702661325 | GLI3 | c.2598G= (p.Gly866=) c.2424G= (p.Gly808=) n.2575G= c.2421G= (p.Gly807=) c.2595G= (p.Gly865=) | |
7 | g.41966475C>G | CA454662715 | GLI3 | c.2598G>C (p.Gly866=) c.2424G>C (p.Gly808=) n.2575G>C c.2421G>C (p.Gly807=) c.2595G>C (p.Gly865=) | gnomAD v4 |
7 | g.41966475C>T | CA454662717 | GLI3 | c.2598G>A (p.Gly866=) c.2424G>A (p.Gly808=) n.2575G>A c.2421G>A (p.Gly807=) c.2595G>A (p.Gly865=) | gnomAD v4 |
7 | g.41966477del | CA2573052874 | GLI3 | c.2598del (p.Ile867SerfsTer23) c.2424del (p.Ile809SerfsTer23) n.2575del c.2421del (p.Ile808SerfsTer23) c.2595del (p.Ile866SerfsTer23) | ClinVar dbSNP |
7 | g.41966476C>A | CA367320746 | GLI3 | c.2597G>T (p.Gly866Val) c.2423G>T (p.Gly808Val) n.2574G>T c.2420G>T (p.Gly807Val) c.2594G>T (p.Gly865Val) | |
7 | g.41966476C>G | CA367320747 | GLI3 | c.2597G>C (p.Gly866Ala) c.2423G>C (p.Gly808Ala) n.2574G>C c.2420G>C (p.Gly807Ala) c.2594G>C (p.Gly865Ala) | |
7 | g.41966476C>T | CA367320748 | GLI3 | c.2597G>A (p.Gly866Glu) c.2423G>A (p.Gly808Glu) n.2574G>A c.2420G>A (p.Gly807Glu) c.2594G>A (p.Gly865Glu) | |
7 | g.41966477C>A | CA367320749 | GLI3 | c.2596G>T (p.Gly866Trp) c.2422G>T (p.Gly808Trp) n.2573G>T c.2419G>T (p.Gly807Trp) c.2593G>T (p.Gly865Trp) | |
7 | g.41966477C>G | CA367320750 | GLI3 | c.2596G>C (p.Gly866Arg) c.2422G>C (p.Gly808Arg) n.2573G>C c.2419G>C (p.Gly807Arg) c.2593G>C (p.Gly865Arg) | |
7 | g.41966477C>T | CA367320751 | GLI3 | c.2596G>A (p.Gly866Arg) c.2422G>A (p.Gly808Arg) n.2573G>A c.2419G>A (p.Gly807Arg) c.2593G>A (p.Gly865Arg) | |
7 | g.41966478T>A | CA454662719 | GLI3 | c.2595A>T (p.Ser865=) c.2421A>T (p.Ser807=) n.2572A>T c.2418A>T (p.Ser806=) c.2592A>T (p.Ser864=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966478T>C | CA4230565 | GLI3 | c.2595A>G (p.Ser865=) c.2421A>G (p.Ser807=) n.2572A>G c.2418A>G (p.Ser806=) c.2592A>G (p.Ser864=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966478T>G | CA454662720 | GLI3 | c.2595A>C (p.Ser865=) c.2421A>C (p.Ser807=) n.2572A>C c.2418A>C (p.Ser806=) c.2592A>C (p.Ser864=) | |
7 | g.41966478T= | CA1702661326 | GLI3 | c.2595A= (p.Ser865=) c.2421A= (p.Ser807=) n.2572A= c.2418A= (p.Ser806=) c.2592A= (p.Ser864=) | |
7 | g.41966479G>A | CA367320752 | GLI3 | c.2594C>T (p.Ser865Leu) c.2420C>T (p.Ser807Leu) n.2571C>T c.2417C>T (p.Ser806Leu) c.2591C>T (p.Ser864Leu) | |
7 | g.41966479G>C | CA367320753 | GLI3 | c.2594C>G (p.Ser865Ter) c.2420C>G (p.Ser807Ter) n.2571C>G c.2417C>G (p.Ser806Ter) c.2591C>G (p.Ser864Ter) | ClinVar dbSNP |
7 | g.41966479G>T | CA367320754 | GLI3 | c.2594C>A (p.Ser865Ter) c.2420C>A (p.Ser807Ter) n.2571C>A c.2417C>A (p.Ser806Ter) c.2591C>A (p.Ser864Ter) | |
7 | g.41966480A>C | CA367320755 | GLI3 | c.2593T>G (p.Ser865Ala) c.2419T>G (p.Ser807Ala) n.2570T>G c.2416T>G (p.Ser806Ala) c.2590T>G (p.Ser864Ala) | |
7 | g.41966480A>G | CA367320757 | GLI3 | c.2593T>C (p.Ser865Pro) c.2419T>C (p.Ser807Pro) n.2570T>C c.2416T>C (p.Ser806Pro) c.2590T>C (p.Ser864Pro) | |
7 | g.41966480A>T | CA367320756 | GLI3 | c.2593T>A (p.Ser865Thr) c.2419T>A (p.Ser807Thr) n.2570T>A c.2416T>A (p.Ser806Thr) c.2590T>A (p.Ser864Thr) | |
7 | g.41966481G>A | CA454662722 | GLI3 | c.2592C>T (p.Ser864=) c.2418C>T (p.Ser806=) n.2569C>T c.2415C>T (p.Ser805=) c.2589C>T (p.Ser863=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966481G>C | CA4230566 | GLI3 | c.2592C>G (p.Ser864=) c.2418C>G (p.Ser806=) n.2569C>G c.2415C>G (p.Ser805=) c.2589C>G (p.Ser863=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966481G= | CA1702661327 | GLI3 | c.2592C= (p.Ser864=) c.2418C= (p.Ser806=) n.2569C= c.2415C= (p.Ser805=) c.2589C= (p.Ser863=) | |
7 | g.41966481G>T | CA454662723 | GLI3 | c.2592C>A (p.Ser864=) c.2418C>A (p.Ser806=) n.2569C>A c.2415C>A (p.Ser805=) c.2589C>A (p.Ser863=) | |
7 | g.41966482G>A | CA367320758 | GLI3 | c.2591C>T (p.Ser864Phe) c.2417C>T (p.Ser806Phe) n.2568C>T c.2414C>T (p.Ser805Phe) c.2588C>T (p.Ser863Phe) | COSMIC |
7 | g.41966482G>C | CA367320759 | GLI3 | c.2591C>G (p.Ser864Cys) c.2417C>G (p.Ser806Cys) n.2568C>G c.2414C>G (p.Ser805Cys) c.2588C>G (p.Ser863Cys) | |
7 | g.41966482G>T | CA367320760 | GLI3 | c.2591C>A (p.Ser864Tyr) c.2417C>A (p.Ser806Tyr) n.2568C>A c.2414C>A (p.Ser805Tyr) c.2588C>A (p.Ser863Tyr) | |
7 | g.41966483A>C | CA367320761 | GLI3 | c.2590T>G (p.Ser864Ala) c.2416T>G (p.Ser806Ala) n.2567T>G c.2413T>G (p.Ser805Ala) c.2587T>G (p.Ser863Ala) | |
7 | g.41966483A>G | CA367320762 | GLI3 | c.2590T>C (p.Ser864Pro) c.2416T>C (p.Ser806Pro) n.2567T>C c.2413T>C (p.Ser805Pro) c.2587T>C (p.Ser863Pro) | gnomAD v4 |
7 | g.41966483A>T | CA367320763 | GLI3 | c.2590T>A (p.Ser864Thr) c.2416T>A (p.Ser806Thr) n.2567T>A c.2413T>A (p.Ser805Thr) c.2587T>A (p.Ser863Thr) | |
7 | g.41966484G>A | CA454662725 | GLI3 | c.2589C>T (p.Arg863=) c.2415C>T (p.Arg805=) n.2566C>T c.2412C>T (p.Arg804=) c.2586C>T (p.Arg862=) | gnomAD v4 |
7 | g.41966484G>C | CA454662726 | GLI3 | c.2589C>G (p.Arg863=) c.2415C>G (p.Arg805=) n.2566C>G c.2412C>G (p.Arg804=) c.2586C>G (p.Arg862=) | |
7 | g.41966484G>T | CA454662727 | GLI3 | c.2589C>A (p.Arg863=) c.2415C>A (p.Arg805=) n.2566C>A c.2412C>A (p.Arg804=) c.2586C>A (p.Arg862=) | gnomAD v4 |
7 | g.41966485C>A | CA367320764 | GLI3 | c.2588G>T (p.Arg863Leu) c.2414G>T (p.Arg805Leu) n.2565G>T c.2411G>T (p.Arg804Leu) c.2585G>T (p.Arg862Leu) | gnomAD v4 |
7 | g.41966485C= | CA1702661328 | GLI3 | c.2588G= (p.Arg863=) c.2414G= (p.Arg805=) n.2565G= c.2411G= (p.Arg804=) c.2585G= (p.Arg862=) | |
7 | g.41966485C>G | CA367320765 | GLI3 | c.2588G>C (p.Arg863Pro) c.2414G>C (p.Arg805Pro) n.2565G>C c.2411G>C (p.Arg804Pro) c.2585G>C (p.Arg862Pro) | gnomAD v4 |
7 | g.41966485C>T | CA367320766 | GLI3 | c.2588G>A (p.Arg863His) c.2414G>A (p.Arg805His) n.2565G>A c.2411G>A (p.Arg804His) c.2585G>A (p.Arg862His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966486G>A | CA367320767 | GLI3 | c.2587C>T (p.Arg863Cys) c.2413C>T (p.Arg805Cys) n.2564C>T c.2410C>T (p.Arg804Cys) c.2584C>T (p.Arg862Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966486G>C | CA367320768 | GLI3 | c.2587C>G (p.Arg863Gly) c.2413C>G (p.Arg805Gly) n.2564C>G c.2410C>G (p.Arg804Gly) c.2584C>G (p.Arg862Gly) | gnomAD v4 |
7 | g.41966486G= | CA1702661329 | GLI3 | c.2587C= (p.Arg863=) c.2413C= (p.Arg805=) n.2564C= c.2410C= (p.Arg804=) c.2584C= (p.Arg862=) | |
7 | g.41966486G>T | CA367320769 | GLI3 | c.2587C>A (p.Arg863Ser) c.2413C>A (p.Arg805Ser) n.2564C>A c.2410C>A (p.Arg804Ser) c.2584C>A (p.Arg862Ser) | dbSNP |
7 | g.41966487G>A | CA454662731 | GLI3 | c.2586C>T (p.Arg862=) c.2412C>T (p.Arg804=) n.2563C>T c.2409C>T (p.Arg803=) c.2583C>T (p.Arg861=) | |
7 | g.41966487G>C | CA454662732 | GLI3 | c.2586C>G (p.Arg862=) c.2412C>G (p.Arg804=) n.2563C>G c.2409C>G (p.Arg803=) c.2583C>G (p.Arg861=) | |
7 | g.41966487G>T | CA454662733 | GLI3 | c.2586C>A (p.Arg862=) c.2412C>A (p.Arg804=) n.2563C>A c.2409C>A (p.Arg803=) c.2583C>A (p.Arg861=) | |
7 | g.41966488C>A | CA367320770 | GLI3 | c.2585G>T (p.Arg862Leu) c.2411G>T (p.Arg804Leu) n.2562G>T c.2408G>T (p.Arg803Leu) c.2582G>T (p.Arg861Leu) | gnomAD v4 COSMIC |
7 | g.41966488C= | CA1702661330 | GLI3 | c.2585G= (p.Arg862=) c.2411G= (p.Arg804=) n.2562G= c.2408G= (p.Arg803=) c.2582G= (p.Arg861=) | |
7 | g.41966488C>G | CA367320772 | GLI3 | c.2585G>C (p.Arg862Pro) c.2411G>C (p.Arg804Pro) n.2562G>C c.2408G>C (p.Arg803Pro) c.2582G>C (p.Arg861Pro) | |
7 | g.41966488C>T | CA367320771 | GLI3 | c.2585G>A (p.Arg862His) c.2411G>A (p.Arg804His) n.2562G>A c.2408G>A (p.Arg803His) c.2582G>A (p.Arg861His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41966489G>A | CA367320773 | GLI3 | c.2584C>T (p.Arg862Cys) c.2410C>T (p.Arg804Cys) n.2561C>T c.2407C>T (p.Arg803Cys) c.2581C>T (p.Arg861Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.41966489G>C | CA367320774 | GLI3 | c.2584C>G (p.Arg862Gly) c.2410C>G (p.Arg804Gly) n.2561C>G c.2407C>G (p.Arg803Gly) c.2581C>G (p.Arg861Gly) | |
7 | g.41966489G= | CA1702661331 | GLI3 | c.2584C= (p.Arg862=) c.2410C= (p.Arg804=) n.2561C= c.2407C= (p.Arg803=) c.2581C= (p.Arg861=) | |
7 | g.41966489G>T | CA367320775 | GLI3 | c.2584C>A (p.Arg862Ser) c.2410C>A (p.Arg804Ser) n.2561C>A c.2407C>A (p.Arg803Ser) c.2581C>A (p.Arg861Ser) | |
7 | g.41966490G>A | CA454662734 | GLI3 | c.2583C>T (p.Ser861=) c.2409C>T (p.Ser803=) n.2560C>T c.2406C>T (p.Ser802=) c.2580C>T (p.Ser860=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966490G>C | CA367320776 | GLI3 | c.2583C>G (p.Ser861Arg) c.2409C>G (p.Ser803Arg) n.2560C>G c.2406C>G (p.Ser802Arg) c.2580C>G (p.Ser860Arg) | |
7 | g.41966490G= | CA1702661332 | GLI3 | c.2583C= (p.Ser861=) c.2409C= (p.Ser803=) n.2560C= c.2406C= (p.Ser802=) c.2580C= (p.Ser860=) | |
7 | g.41966490G>T | CA367320777 | GLI3 | c.2583C>A (p.Ser861Arg) c.2409C>A (p.Ser803Arg) n.2560C>A c.2406C>A (p.Ser802Arg) c.2580C>A (p.Ser860Arg) | |
7 | g.41966491C>A | CA367320778 | GLI3 | c.2582G>T (p.Ser861Ile) c.2408G>T (p.Ser803Ile) n.2559G>T c.2405G>T (p.Ser802Ile) c.2579G>T (p.Ser860Ile) | |
7 | g.41966491C>G | CA367320779 | GLI3 | c.2582G>C (p.Ser861Thr) c.2408G>C (p.Ser803Thr) n.2559G>C c.2405G>C (p.Ser802Thr) c.2579G>C (p.Ser860Thr) | dbSNP |
7 | g.41966491C>T | CA367320780 | GLI3 | c.2582G>A (p.Ser861Asn) c.2408G>A (p.Ser803Asn) n.2559G>A c.2405G>A (p.Ser802Asn) c.2579G>A (p.Ser860Asn) | |
7 | g.41966492T>A | CA367320781 | GLI3 | c.2581A>T (p.Ser861Cys) c.2407A>T (p.Ser803Cys) n.2558A>T c.2404A>T (p.Ser802Cys) c.2578A>T (p.Ser860Cys) | |
7 | g.41966492T>C | CA367320782 | GLI3 | c.2581A>G (p.Ser861Gly) c.2407A>G (p.Ser803Gly) n.2558A>G c.2404A>G (p.Ser802Gly) c.2578A>G (p.Ser860Gly) | |
7 | g.41966492T>G | CA367320783 | GLI3 | c.2581A>C (p.Ser861Arg) c.2407A>C (p.Ser803Arg) n.2558A>C c.2404A>C (p.Ser802Arg) c.2578A>C (p.Ser860Arg) | |
7 | g.41966493G>A | CA454662738 | GLI3 | c.2580C>T (p.Ser860=) c.2406C>T (p.Ser802=) n.2557C>T c.2403C>T (p.Ser801=) c.2577C>T (p.Ser859=) | |
7 | g.41966493G>C | CA367320784 | GLI3 | c.2580C>G (p.Ser860Arg) c.2406C>G (p.Ser802Arg) n.2557C>G c.2403C>G (p.Ser801Arg) c.2577C>G (p.Ser859Arg) | |
7 | g.41966493G>T | CA367320785 | GLI3 | c.2580C>A (p.Ser860Arg) c.2406C>A (p.Ser802Arg) n.2557C>A c.2403C>A (p.Ser801Arg) c.2577C>A (p.Ser859Arg) | |
7 | g.41966494C>A | CA367320786 | GLI3 | c.2579G>T (p.Ser860Ile) c.2405G>T (p.Ser802Ile) n.2556G>T c.2402G>T (p.Ser801Ile) c.2576G>T (p.Ser859Ile) | |
7 | g.41966494C>G | CA367320788 | GLI3 | c.2579G>C (p.Ser860Thr) c.2405G>C (p.Ser802Thr) n.2556G>C c.2402G>C (p.Ser801Thr) c.2576G>C (p.Ser859Thr) | |
7 | g.41966494C>T | CA367320787 | GLI3 | c.2579G>A (p.Ser860Asn) c.2405G>A (p.Ser802Asn) n.2556G>A c.2402G>A (p.Ser801Asn) c.2576G>A (p.Ser859Asn) | |
7 | g.41966495T>A | CA367320789 | GLI3 | c.2578A>T (p.Ser860Cys) c.2404A>T (p.Ser802Cys) n.2555A>T c.2401A>T (p.Ser801Cys) c.2575A>T (p.Ser859Cys) | |
7 | g.41966495T>C | CA367320791 | GLI3 | c.2578A>G (p.Ser860Gly) c.2404A>G (p.Ser802Gly) n.2555A>G c.2401A>G (p.Ser801Gly) c.2575A>G (p.Ser859Gly) | |
7 | g.41966495T>G | CA367320790 | GLI3 | c.2578A>C (p.Ser860Arg) c.2404A>C (p.Ser802Arg) n.2555A>C c.2401A>C (p.Ser801Arg) c.2575A>C (p.Ser859Arg) | |
7 | g.41966496C>A | CA454662739 | GLI3 | c.2577G>T (p.Leu859=) c.2403G>T (p.Leu801=) n.2554G>T c.2400G>T (p.Leu800=) c.2574G>T (p.Leu858=) | |
7 | g.41966496C= | CA1702661333 | GLI3 | c.2577G= (p.Leu859=) c.2403G= (p.Leu801=) n.2554G= c.2400G= (p.Leu800=) c.2574G= (p.Leu858=) | |
7 | g.41966496C>G | CA454662740 | GLI3 | c.2577G>C (p.Leu859=) c.2403G>C (p.Leu801=) n.2554G>C c.2400G>C (p.Leu800=) c.2574G>C (p.Leu858=) | |
7 | g.41966496C>T | CA454662741 | GLI3 | c.2577G>A (p.Leu859=) c.2403G>A (p.Leu801=) n.2554G>A c.2400G>A (p.Leu800=) c.2574G>A (p.Leu858=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966497A>C | CA367320792 | GLI3 | c.2576T>G (p.Leu859Arg) c.2402T>G (p.Leu801Arg) n.2553T>G c.2399T>G (p.Leu800Arg) c.2573T>G (p.Leu858Arg) | |
7 | g.41966497A>G | CA367320793 | GLI3 | c.2576T>C (p.Leu859Pro) c.2402T>C (p.Leu801Pro) n.2553T>C c.2399T>C (p.Leu800Pro) c.2573T>C (p.Leu858Pro) | gnomAD v4 |
7 | g.41966497A>T | CA367320794 | GLI3 | c.2576T>A (p.Leu859Gln) c.2402T>A (p.Leu801Gln) n.2553T>A c.2399T>A (p.Leu800Gln) c.2573T>A (p.Leu858Gln) | gnomAD v4 |
7 | g.41966498G>A | CA454662742 | GLI3 | c.2575C>T (p.Leu859=) c.2401C>T (p.Leu801=) n.2552C>T c.2398C>T (p.Leu800=) c.2572C>T (p.Leu858=) | dbSNP gnomAD v4 |
7 | g.41966498G>C | CA367320795 | GLI3 | c.2575C>G (p.Leu859Val) c.2401C>G (p.Leu801Val) n.2552C>G c.2398C>G (p.Leu800Val) c.2572C>G (p.Leu858Val) | dbSNP |
7 | g.41966498G= | CA1702661334 | GLI3 | c.2575C= (p.Leu859=) c.2401C= (p.Leu801=) n.2552C= c.2398C= (p.Leu800=) c.2572C= (p.Leu858=) | |
7 | g.41966498G>T | CA367320796 | GLI3 | c.2575C>A (p.Leu859Met) c.2401C>A (p.Leu801Met) n.2552C>A c.2398C>A (p.Leu800Met) c.2572C>A (p.Leu858Met) | |
7 | g.41966499G>A | CA454662744 | GLI3 | c.2574C>T (p.Tyr858=) c.2400C>T (p.Tyr800=) n.2551C>T c.2397C>T (p.Tyr799=) c.2571C>T (p.Tyr857=) | |
7 | g.41966499G>C | CA367320797 | GLI3 | c.2574C>G (p.Tyr858Ter) c.2400C>G (p.Tyr800Ter) n.2551C>G c.2397C>G (p.Tyr799Ter) c.2571C>G (p.Tyr857Ter) | |
7 | g.41966499G>T | CA367320798 | GLI3 | c.2574C>A (p.Tyr858Ter) c.2400C>A (p.Tyr800Ter) n.2551C>A c.2397C>A (p.Tyr799Ter) c.2571C>A (p.Tyr857Ter) | |
7 | g.41966500T>A | CA367320799 | GLI3 | c.2573A>T (p.Tyr858Phe) c.2399A>T (p.Tyr800Phe) n.2550A>T c.2396A>T (p.Tyr799Phe) c.2570A>T (p.Tyr857Phe) | |
7 | g.41966500T>C | CA367320800 | GLI3 | c.2573A>G (p.Tyr858Cys) c.2399A>G (p.Tyr800Cys) n.2550A>G c.2396A>G (p.Tyr799Cys) c.2570A>G (p.Tyr857Cys) | |
7 | g.41966500T>G | CA367320801 | GLI3 | c.2573A>C (p.Tyr858Ser) c.2399A>C (p.Tyr800Ser) n.2550A>C c.2396A>C (p.Tyr799Ser) c.2570A>C (p.Tyr857Ser) | |
7 | g.41966501A= | CA1702661335 | GLI3 | c.2572T= (p.Tyr858=) c.2398T= (p.Tyr800=) n.2549T= c.2395T= (p.Tyr799=) c.2569T= (p.Tyr857=) | |
7 | g.41966501A>C | CA367320802 | GLI3 | c.2572T>G (p.Tyr858Asp) c.2398T>G (p.Tyr800Asp) n.2549T>G c.2395T>G (p.Tyr799Asp) c.2569T>G (p.Tyr857Asp) | |
7 | g.41966501A>G | CA367320803 | GLI3 | c.2572T>C (p.Tyr858His) c.2398T>C (p.Tyr800His) n.2549T>C c.2395T>C (p.Tyr799His) c.2569T>C (p.Tyr857His) | |
7 | g.41966501A>T | CA367320804 | GLI3 | c.2572T>A (p.Tyr858Asn) c.2398T>A (p.Tyr800Asn) n.2549T>A c.2395T>A (p.Tyr799Asn) c.2569T>A (p.Tyr857Asn) | dbSNP gnomAD v4 |
7 | g.41966502G>A | CA4230567 | GLI3 | c.2571C>T (p.Ala857=) c.2397C>T (p.Ala799=) n.2548C>T c.2394C>T (p.Ala798=) c.2568C>T (p.Ala856=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966502G>C | CA454662746 | GLI3 | c.2571C>G (p.Ala857=) c.2397C>G (p.Ala799=) n.2548C>G c.2394C>G (p.Ala798=) c.2568C>G (p.Ala856=) | |
7 | g.41966502G= | CA1702661336 | GLI3 | c.2571C= (p.Ala857=) c.2397C= (p.Ala799=) n.2548C= c.2394C= (p.Ala798=) c.2568C= (p.Ala856=) | |
7 | g.41966502G>T | CA454662747 | GLI3 | c.2571C>A (p.Ala857=) c.2397C>A (p.Ala799=) n.2548C>A c.2394C>A (p.Ala798=) c.2568C>A (p.Ala856=) | |
7 | g.41966503G>A | CA367320805 | GLI3 | c.2570C>T (p.Ala857Val) c.2396C>T (p.Ala799Val) n.2547C>T c.2393C>T (p.Ala798Val) c.2567C>T (p.Ala856Val) | |
7 | g.41966503G>C | CA367320806 | GLI3 | c.2570C>G (p.Ala857Gly) c.2396C>G (p.Ala799Gly) n.2547C>G c.2393C>G (p.Ala798Gly) c.2567C>G (p.Ala856Gly) | |
7 | g.41966503G>T | CA367320807 | GLI3 | c.2570C>A (p.Ala857Asp) c.2396C>A (p.Ala799Asp) n.2547C>A c.2393C>A (p.Ala798Asp) c.2567C>A (p.Ala856Asp) | |
7 | g.41966504C>A | CA367320808 | GLI3 | c.2569G>T (p.Ala857Ser) c.2395G>T (p.Ala799Ser) n.2546G>T c.2392G>T (p.Ala798Ser) c.2566G>T (p.Ala856Ser) | |
7 | g.41966504C>G | CA367320809 | GLI3 | c.2569G>C (p.Ala857Pro) c.2395G>C (p.Ala799Pro) n.2546G>C c.2392G>C (p.Ala798Pro) c.2566G>C (p.Ala856Pro) | |
7 | g.41966504C>T | CA367320810 | GLI3 | c.2569G>A (p.Ala857Thr) c.2395G>A (p.Ala799Thr) n.2546G>A c.2392G>A (p.Ala798Thr) c.2566G>A (p.Ala856Thr) | |
7 | g.41966505C>A | CA4230569 | GLI3 | c.2568G>T (p.Ser856=) c.2394G>T (p.Ser798=) n.2545G>T c.2391G>T (p.Ser797=) c.2565G>T (p.Ser855=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966505C= | CA1702661337 | GLI3 | c.2568G= (p.Ser856=) c.2394G= (p.Ser798=) n.2545G= c.2391G= (p.Ser797=) c.2565G= (p.Ser855=) | |
7 | g.41966505C>G | CA4230568 | GLI3 | c.2568G>C (p.Ser856=) c.2394G>C (p.Ser798=) n.2545G>C c.2391G>C (p.Ser797=) c.2565G>C (p.Ser855=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966505C>T | CA454662751 | GLI3 | c.2568G>A (p.Ser856=) c.2394G>A (p.Ser798=) n.2545G>A c.2391G>A (p.Ser797=) c.2565G>A (p.Ser855=) | gnomAD v4 COSMIC |
7 | g.41966506G>A | CA367320811 | GLI3 | c.2567C>T (p.Ser856Leu) c.2393C>T (p.Ser798Leu) n.2544C>T c.2390C>T (p.Ser797Leu) c.2564C>T (p.Ser855Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966506G>C | CA367320812 | GLI3 | c.2567C>G (p.Ser856Trp) c.2393C>G (p.Ser798Trp) n.2544C>G c.2390C>G (p.Ser797Trp) c.2564C>G (p.Ser855Trp) | |
7 | g.41966506G= | CA1702661338 | GLI3 | c.2567C= (p.Ser856=) c.2393C= (p.Ser798=) n.2544C= c.2390C= (p.Ser797=) c.2564C= (p.Ser855=) | |
7 | g.41966506G>T | CA342932 | GLI3 | c.2567C>A (p.Ser856Ter) c.2393C>A (p.Ser798Ter) n.2544C>A c.2390C>A (p.Ser797Ter) c.2564C>A (p.Ser855Ter) | dbSNP |
7 | g.41966507A>C | CA367320815 | GLI3 | c.2566T>G (p.Ser856Ala) c.2392T>G (p.Ser798Ala) n.2543T>G c.2389T>G (p.Ser797Ala) c.2563T>G (p.Ser855Ala) | |
7 | g.41966507A>G | CA367320814 | GLI3 | c.2566T>C (p.Ser856Pro) c.2392T>C (p.Ser798Pro) n.2543T>C c.2389T>C (p.Ser797Pro) c.2563T>C (p.Ser855Pro) | |
7 | g.41966507A>T | CA367320813 | GLI3 | c.2566T>A (p.Ser856Thr) c.2392T>A (p.Ser798Thr) n.2543T>A c.2389T>A (p.Ser797Thr) c.2563T>A (p.Ser855Thr) | |
7 | g.41966508G>A | CA4230570 | GLI3 | c.2565C>T (p.Ser855=) c.2391C>T (p.Ser797=) n.2542C>T c.2388C>T (p.Ser796=) c.2562C>T (p.Ser854=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966508G>C | CA367320816 | GLI3 | c.2565C>G (p.Ser855Arg) c.2391C>G (p.Ser797Arg) n.2542C>G c.2388C>G (p.Ser796Arg) c.2562C>G (p.Ser854Arg) | |
7 | g.41966508G= | CA1702661339 | GLI3 | c.2565C= (p.Ser855=) c.2391C= (p.Ser797=) n.2542C= c.2388C= (p.Ser796=) c.2562C= (p.Ser854=) | |
7 | g.41966508G>T | CA367320817 | GLI3 | c.2565C>A (p.Ser855Arg) c.2391C>A (p.Ser797Arg) n.2542C>A c.2388C>A (p.Ser796Arg) c.2562C>A (p.Ser854Arg) | |
7 | g.41966509C>A | CA367320818 | GLI3 | c.2564G>T (p.Ser855Ile) c.2390G>T (p.Ser797Ile) n.2541G>T c.2387G>T (p.Ser796Ile) c.2561G>T (p.Ser854Ile) | gnomAD v4 |
7 | g.41966509C>G | CA367320819 | GLI3 | c.2564G>C (p.Ser855Thr) c.2390G>C (p.Ser797Thr) n.2541G>C c.2387G>C (p.Ser796Thr) c.2561G>C (p.Ser854Thr) | |
7 | g.41966509C>T | CA367320820 | GLI3 | c.2564G>A (p.Ser855Asn) c.2390G>A (p.Ser797Asn) n.2541G>A c.2387G>A (p.Ser796Asn) c.2561G>A (p.Ser854Asn) | COSMIC |
7 | g.41966510T>A | CA367320821 | GLI3 | c.2563A>T (p.Ser855Cys) c.2389A>T (p.Ser797Cys) n.2540A>T c.2386A>T (p.Ser796Cys) c.2560A>T (p.Ser854Cys) | |
7 | g.41966510T>C | CA367320822 | GLI3 | c.2563A>G (p.Ser855Gly) c.2389A>G (p.Ser797Gly) n.2540A>G c.2386A>G (p.Ser796Gly) c.2560A>G (p.Ser854Gly) | |
7 | g.41966510T>G | CA367320823 | GLI3 | c.2563A>C (p.Ser855Arg) c.2389A>C (p.Ser797Arg) n.2540A>C c.2386A>C (p.Ser796Arg) c.2560A>C (p.Ser854Arg) | |
7 | g.41966512_41966514dup | CA2578897302 | GLI3 | c.2561_2563dup (p.Ile854_Ser855insIle) c.2387_2389dup (p.Ile796_Ser797insIle) n.2538_2540dup c.2384_2386dup (p.Ile795_Ser796insIle) c.2558_2560dup (p.Ile853_Ser854insIle) | |
7 | g.41966511G>A | CA454662756 | GLI3 | c.2562C>T (p.Ile854=) c.2388C>T (p.Ile796=) n.2539C>T c.2385C>T (p.Ile795=) c.2559C>T (p.Ile853=) | gnomAD v4 |
7 | g.41966511G>C | CA367320824 | GLI3 | c.2562C>G (p.Ile854Met) c.2388C>G (p.Ile796Met) n.2539C>G c.2385C>G (p.Ile795Met) c.2559C>G (p.Ile853Met) | |
7 | g.41966511G>T | CA454662757 | GLI3 | c.2562C>A (p.Ile854=) c.2388C>A (p.Ile796=) n.2539C>A c.2385C>A (p.Ile795=) c.2559C>A (p.Ile853=) | gnomAD v4 |
7 | g.41966512A>C | CA367320825 | GLI3 | c.2561T>G (p.Ile854Ser) c.2387T>G (p.Ile796Ser) n.2538T>G c.2384T>G (p.Ile795Ser) c.2558T>G (p.Ile853Ser) | |
7 | g.41966512A>G | CA367320826 | GLI3 | c.2561T>C (p.Ile854Thr) c.2387T>C (p.Ile796Thr) n.2538T>C c.2384T>C (p.Ile795Thr) c.2558T>C (p.Ile853Thr) | |
7 | g.41966512A>T | CA367320827 | GLI3 | c.2561T>A (p.Ile854Asn) c.2387T>A (p.Ile796Asn) n.2538T>A c.2384T>A (p.Ile795Asn) c.2558T>A (p.Ile853Asn) | |
7 | g.41966513T>A | CA367320828 | GLI3 | c.2560A>T (p.Ile854Phe) c.2386A>T (p.Ile796Phe) n.2537A>T c.2383A>T (p.Ile795Phe) c.2557A>T (p.Ile853Phe) | |
7 | g.41966513T>C | CA4230571 | GLI3 | c.2560A>G (p.Ile854Val) c.2386A>G (p.Ile796Val) n.2537A>G c.2383A>G (p.Ile795Val) c.2557A>G (p.Ile853Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966513T>G | CA367320829 | GLI3 | c.2560A>C (p.Ile854Leu) c.2386A>C (p.Ile796Leu) n.2537A>C c.2383A>C (p.Ile795Leu) c.2557A>C (p.Ile853Leu) | |
7 | g.41966513T= | CA1702661340 | GLI3 | c.2560A= (p.Ile854=) c.2386A= (p.Ile796=) n.2537A= c.2383A= (p.Ile795=) c.2557A= (p.Ile853=) | |
7 | g.41966514G>A | CA454662763 | GLI3 | c.2559C>T (p.Thr853=) c.2385C>T (p.Thr795=) n.2536C>T c.2382C>T (p.Thr794=) c.2556C>T (p.Thr852=) | |
7 | g.41966514G>C | CA454662762 | GLI3 | c.2559C>G (p.Thr853=) c.2385C>G (p.Thr795=) n.2536C>G c.2382C>G (p.Thr794=) c.2556C>G (p.Thr852=) | |
7 | g.41966514G>T | CA454662761 | GLI3 | c.2559C>A (p.Thr853=) c.2385C>A (p.Thr795=) n.2536C>A c.2382C>A (p.Thr794=) c.2556C>A (p.Thr852=) | |
7 | g.41966515G>A | CA367320830 | GLI3 | c.2558C>T (p.Thr853Ile) c.2384C>T (p.Thr795Ile) n.2535C>T c.2381C>T (p.Thr794Ile) c.2555C>T (p.Thr852Ile) | gnomAD v4 |
7 | g.41966515G>C | CA367320831 | GLI3 | c.2558C>G (p.Thr853Ser) c.2384C>G (p.Thr795Ser) n.2535C>G c.2381C>G (p.Thr794Ser) c.2555C>G (p.Thr852Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966515G= | CA1702661341 | GLI3 | c.2558C= (p.Thr853=) c.2384C= (p.Thr795=) n.2535C= c.2381C= (p.Thr794=) c.2555C= (p.Thr852=) | |
7 | g.41966515G>T | CA367320832 | GLI3 | c.2558C>A (p.Thr853Asn) c.2384C>A (p.Thr795Asn) n.2535C>A c.2381C>A (p.Thr794Asn) c.2555C>A (p.Thr852Asn) | |
7 | g.41966516T>A | CA367320833 | GLI3 | c.2557A>T (p.Thr853Ser) c.2383A>T (p.Thr795Ser) n.2534A>T c.2380A>T (p.Thr794Ser) c.2554A>T (p.Thr852Ser) | |
7 | g.41966516T>C | CA367320834 | GLI3 | c.2557A>G (p.Thr853Ala) c.2383A>G (p.Thr795Ala) n.2534A>G c.2380A>G (p.Thr794Ala) c.2554A>G (p.Thr852Ala) | |
7 | g.41966516T>G | CA367320835 | GLI3 | c.2557A>C (p.Thr853Pro) c.2383A>C (p.Thr795Pro) n.2534A>C c.2380A>C (p.Thr794Pro) c.2554A>C (p.Thr852Pro) | |
7 | g.41966517G>A | CA454662767 | GLI3 | c.2556C>T (p.Ser852=) c.2382C>T (p.Ser794=) n.2533C>T c.2379C>T (p.Ser793=) c.2553C>T (p.Ser851=) | |
7 | g.41966517G>C | CA367320836 | GLI3 | c.2556C>G (p.Ser852Arg) c.2382C>G (p.Ser794Arg) n.2533C>G c.2379C>G (p.Ser793Arg) c.2553C>G (p.Ser851Arg) | |
7 | g.41966517G>T | CA367320837 | GLI3 | c.2556C>A (p.Ser852Arg) c.2382C>A (p.Ser794Arg) n.2533C>A c.2379C>A (p.Ser793Arg) c.2553C>A (p.Ser851Arg) | |
7 | g.41966518C>A | CA367320838 | GLI3 | c.2555G>T (p.Ser852Ile) c.2381G>T (p.Ser794Ile) n.2532G>T c.2378G>T (p.Ser793Ile) c.2552G>T (p.Ser851Ile) | |
7 | g.41966518C>G | CA367320839 | GLI3 | c.2555G>C (p.Ser852Thr) c.2381G>C (p.Ser794Thr) n.2532G>C c.2378G>C (p.Ser793Thr) c.2552G>C (p.Ser851Thr) | |
7 | g.41966518C>T | CA367320840 | GLI3 | c.2555G>A (p.Ser852Asn) c.2381G>A (p.Ser794Asn) n.2532G>A c.2378G>A (p.Ser793Asn) c.2552G>A (p.Ser851Asn) | |
7 | g.41966519T>A | CA367320842 | GLI3 | c.2554A>T (p.Ser852Cys) c.2380A>T (p.Ser794Cys) n.2531A>T c.2377A>T (p.Ser793Cys) c.2551A>T (p.Ser851Cys) | |
7 | g.41966519T>C | CA367320843 | GLI3 | c.2554A>G (p.Ser852Gly) c.2380A>G (p.Ser794Gly) n.2531A>G c.2377A>G (p.Ser793Gly) c.2551A>G (p.Ser851Gly) | |
7 | g.41966519T>G | CA367320841 | GLI3 | c.2554A>C (p.Ser852Arg) c.2380A>C (p.Ser794Arg) n.2531A>C c.2377A>C (p.Ser793Arg) c.2551A>C (p.Ser851Arg) | |
7 | g.41966520G>A | CA454662768 | GLI3 | c.2553C>T (p.Ala851=) c.2379C>T (p.Ala793=) n.2530C>T c.2376C>T (p.Ala792=) c.2550C>T (p.Ala850=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41966520G>C | CA454662771 | GLI3 | c.2553C>G (p.Ala851=) c.2379C>G (p.Ala793=) n.2530C>G c.2376C>G (p.Ala792=) c.2550C>G (p.Ala850=) | |
7 | g.41966520G= | CA1702661342 | GLI3 | c.2553C= (p.Ala851=) c.2379C= (p.Ala793=) n.2530C= c.2376C= (p.Ala792=) c.2550C= (p.Ala850=) | |
7 | g.41966520G>T | CA454662770 | GLI3 | c.2553C>A (p.Ala851=) c.2379C>A (p.Ala793=) n.2530C>A c.2376C>A (p.Ala792=) c.2550C>A (p.Ala850=) | |
7 | g.41966521G>A | CA367320846 | GLI3 | c.2552C>T (p.Ala851Val) c.2378C>T (p.Ala793Val) n.2529C>T c.2375C>T (p.Ala792Val) c.2549C>T (p.Ala850Val) | gnomAD v4 |
7 | g.41966521G>C | CA367320844 | GLI3 | c.2552C>G (p.Ala851Gly) c.2378C>G (p.Ala793Gly) n.2529C>G c.2375C>G (p.Ala792Gly) c.2549C>G (p.Ala850Gly) | |
7 | g.41966521G>T | CA367320845 | GLI3 | c.2552C>A (p.Ala851Asp) c.2378C>A (p.Ala793Asp) n.2529C>A c.2375C>A (p.Ala792Asp) c.2549C>A (p.Ala850Asp) | COSMIC |
7 | g.41966522C>A | CA367320847 | GLI3 | c.2551G>T (p.Ala851Ser) c.2377G>T (p.Ala793Ser) n.2528G>T c.2374G>T (p.Ala792Ser) c.2548G>T (p.Ala850Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966522C= | CA1702661343 | GLI3 | c.2551G= (p.Ala851=) c.2377G= (p.Ala793=) n.2528G= c.2374G= (p.Ala792=) c.2548G= (p.Ala850=) | |
7 | g.41966522C>G | CA367320848 | GLI3 | c.2551G>C (p.Ala851Pro) c.2377G>C (p.Ala793Pro) n.2528G>C c.2374G>C (p.Ala792Pro) c.2548G>C (p.Ala850Pro) | |
7 | g.41966522C>T | CA4230572 | GLI3 | c.2551G>A (p.Ala851Thr) c.2377G>A (p.Ala793Thr) n.2528G>A c.2374G>A (p.Ala792Thr) c.2548G>A (p.Ala850Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966523G>A | CA454662772 | GLI3 | c.2550C>T (p.Ser850=) c.2376C>T (p.Ser792=) n.2527C>T c.2373C>T (p.Ser791=) c.2547C>T (p.Ser849=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966523G>C | CA367320849 | GLI3 | c.2550C>G (p.Ser850Arg) c.2376C>G (p.Ser792Arg) n.2527C>G c.2373C>G (p.Ser791Arg) c.2547C>G (p.Ser849Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966523G= | CA1702661344 | GLI3 | c.2550C= (p.Ser850=) c.2376C= (p.Ser792=) n.2527C= c.2373C= (p.Ser791=) c.2547C= (p.Ser849=) | |
7 | g.41966523G>T | CA367320850 | GLI3 | c.2550C>A (p.Ser850Arg) c.2376C>A (p.Ser792Arg) n.2527C>A c.2373C>A (p.Ser791Arg) c.2547C>A (p.Ser849Arg) | |
7 | g.41966524C>A | CA367320851 | GLI3 | c.2549G>T (p.Ser850Ile) c.2375G>T (p.Ser792Ile) n.2526G>T c.2372G>T (p.Ser791Ile) c.2546G>T (p.Ser849Ile) | |
7 | g.41966524C>G | CA367320852 | GLI3 | c.2549G>C (p.Ser850Thr) c.2375G>C (p.Ser792Thr) n.2526G>C c.2372G>C (p.Ser791Thr) c.2546G>C (p.Ser849Thr) | |
7 | g.41966524C>T | CA367320853 | GLI3 | c.2549G>A (p.Ser850Asn) c.2375G>A (p.Ser792Asn) n.2526G>A c.2372G>A (p.Ser791Asn) c.2546G>A (p.Ser849Asn) | |
7 | g.41966525T>A | CA367320854 | GLI3 | c.2548A>T (p.Ser850Cys) c.2374A>T (p.Ser792Cys) n.2525A>T c.2371A>T (p.Ser791Cys) c.2545A>T (p.Ser849Cys) | |
7 | g.41966525T>C | CA367320855 | GLI3 | c.2548A>G (p.Ser850Gly) c.2374A>G (p.Ser792Gly) n.2525A>G c.2371A>G (p.Ser791Gly) c.2545A>G (p.Ser849Gly) | |
7 | g.41966525T>G | CA367320856 | GLI3 | c.2548A>C (p.Ser850Arg) c.2374A>C (p.Ser792Arg) n.2525A>C c.2371A>C (p.Ser791Arg) c.2545A>C (p.Ser849Arg) | |
7 | g.41966526G>A | CA454662775 | GLI3 | c.2547C>T (p.Ser849=) c.2373C>T (p.Ser791=) n.2524C>T c.2370C>T (p.Ser790=) c.2544C>T (p.Ser848=) | |
7 | g.41966526G>C | CA367320858 | GLI3 | c.2547C>G (p.Ser849Arg) c.2373C>G (p.Ser791Arg) n.2524C>G c.2370C>G (p.Ser790Arg) c.2544C>G (p.Ser848Arg) | |
7 | g.41966526G>T | CA367320857 | GLI3 | c.2547C>A (p.Ser849Arg) c.2373C>A (p.Ser791Arg) n.2524C>A c.2370C>A (p.Ser790Arg) c.2544C>A (p.Ser848Arg) | |
7 | g.41966527C>A | CA156907607 | GLI3 | c.2546G>T (p.Ser849Ile) c.2372G>T (p.Ser791Ile) n.2523G>T c.2369G>T (p.Ser790Ile) c.2543G>T (p.Ser848Ile) | dbSNP |
7 | g.41966527C= | CA1702661345 | GLI3 | c.2546G= (p.Ser849=) c.2372G= (p.Ser791=) n.2523G= c.2369G= (p.Ser790=) c.2543G= (p.Ser848=) | |
7 | g.41966527C>G | CA367320859 | GLI3 | c.2546G>C (p.Ser849Thr) c.2372G>C (p.Ser791Thr) n.2523G>C c.2369G>C (p.Ser790Thr) c.2543G>C (p.Ser848Thr) | |
7 | g.41966527C>T | CA367320860 | GLI3 | c.2546G>A (p.Ser849Asn) c.2372G>A (p.Ser791Asn) n.2523G>A c.2369G>A (p.Ser790Asn) c.2543G>A (p.Ser848Asn) | |
7 | g.41966528T>A | CA367320861 | GLI3 | c.2545A>T (p.Ser849Cys) c.2371A>T (p.Ser791Cys) n.2522A>T c.2368A>T (p.Ser790Cys) c.2542A>T (p.Ser848Cys) | |
7 | g.41966528T>C | CA367320862 | GLI3 | c.2545A>G (p.Ser849Gly) c.2371A>G (p.Ser791Gly) n.2522A>G c.2368A>G (p.Ser790Gly) c.2542A>G (p.Ser848Gly) | dbSNP |
7 | g.41966528T>G | CA367320863 | GLI3 | c.2545A>C (p.Ser849Arg) c.2371A>C (p.Ser791Arg) n.2522A>C c.2368A>C (p.Ser790Arg) c.2542A>C (p.Ser848Arg) | |
7 | g.41966528T= | CA1702661346 | GLI3 | c.2545A= (p.Ser849=) c.2371A= (p.Ser791=) n.2522A= c.2368A= (p.Ser790=) c.2542A= (p.Ser848=) | |
7 | g.41966529G>A | CA454662780 | GLI3 | c.2544C>T (p.Asp848=) c.2370C>T (p.Asp790=) n.2521C>T c.2367C>T (p.Asp789=) c.2541C>T (p.Asp847=) | |
7 | g.41966529G>C | CA367320864 | GLI3 | c.2544C>G (p.Asp848Glu) c.2370C>G (p.Asp790Glu) n.2521C>G c.2367C>G (p.Asp789Glu) c.2541C>G (p.Asp847Glu) | |
7 | g.41966529G>T | CA367320865 | GLI3 | c.2544C>A (p.Asp848Glu) c.2370C>A (p.Asp790Glu) n.2521C>A c.2367C>A (p.Asp789Glu) c.2541C>A (p.Asp847Glu) | |
7 | g.41966530T>A | CA367320866 | GLI3 | c.2543A>T (p.Asp848Val) c.2369A>T (p.Asp790Val) n.2520A>T c.2366A>T (p.Asp789Val) c.2540A>T (p.Asp847Val) | gnomAD v4 |
7 | g.41966530T>C | CA367320867 | GLI3 | c.2543A>G (p.Asp848Gly) c.2369A>G (p.Asp790Gly) n.2520A>G c.2366A>G (p.Asp789Gly) c.2540A>G (p.Asp847Gly) | |
7 | g.41966530T>G | CA367320868 | GLI3 | c.2543A>C (p.Asp848Ala) c.2369A>C (p.Asp790Ala) n.2520A>C c.2366A>C (p.Asp789Ala) c.2540A>C (p.Asp847Ala) | |
7 | g.41966531C>A | CA367320869 | GLI3 | c.2542G>T (p.Asp848Tyr) c.2368G>T (p.Asp790Tyr) n.2519G>T c.2365G>T (p.Asp789Tyr) c.2539G>T (p.Asp847Tyr) | |
7 | g.41966531C>G | CA367320870 | GLI3 | c.2542G>C (p.Asp848His) c.2368G>C (p.Asp790His) n.2519G>C c.2365G>C (p.Asp789His) c.2539G>C (p.Asp847His) | |
7 | g.41966531C>T | CA367320871 | GLI3 | c.2542G>A (p.Asp848Asn) c.2368G>A (p.Asp790Asn) n.2519G>A c.2365G>A (p.Asp789Asn) c.2539G>A (p.Asp847Asn) | gnomAD v4 COSMIC |
7 | g.41966533del | CA2695207666 | GLI3 | c.2542del (p.Asp848ThrfsTer12) c.2368del (p.Asp790ThrfsTer12) n.2519del c.2365del (p.Asp789ThrfsTer12) c.2539del (p.Asp847ThrfsTer12) | |
7 | g.41966532C>A | CA367320872 | GLI3 | c.2541G>T (p.Arg847Ser) c.2367G>T (p.Arg789Ser) n.2518G>T c.2364G>T (p.Arg788Ser) c.2538G>T (p.Arg846Ser) | |
7 | g.41966532C>G | CA367320873 | GLI3 | c.2541G>C (p.Arg847Ser) c.2367G>C (p.Arg789Ser) n.2518G>C c.2364G>C (p.Arg788Ser) c.2538G>C (p.Arg846Ser) | |
7 | g.41966532C>T | CA454662784 | GLI3 | c.2541G>A (p.Arg847=) c.2367G>A (p.Arg789=) n.2518G>A c.2364G>A (p.Arg788=) c.2538G>A (p.Arg846=) | |
7 | g.41966533C>A | CA367320874 | GLI3 | c.2540G>T (p.Arg847Met) c.2366G>T (p.Arg789Met) n.2517G>T c.2363G>T (p.Arg788Met) c.2537G>T (p.Arg846Met) | |
7 | g.41966533C= | CA1702661347 | GLI3 | c.2540G= (p.Arg847=) c.2366G= (p.Arg789=) n.2517G= c.2363G= (p.Arg788=) c.2537G= (p.Arg846=) | |
7 | g.41966533C>G | CA367320875 | GLI3 | c.2540G>C (p.Arg847Thr) c.2366G>C (p.Arg789Thr) n.2517G>C c.2363G>C (p.Arg788Thr) c.2537G>C (p.Arg846Thr) | |
7 | g.41966533C>T | CA4230573 | GLI3 | c.2540G>A (p.Arg847Lys) c.2366G>A (p.Arg789Lys) n.2517G>A c.2363G>A (p.Arg788Lys) c.2537G>A (p.Arg846Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966534T>A | CA367320876 | GLI3 | c.2539A>T (p.Arg847Trp) c.2365A>T (p.Arg789Trp) n.2516A>T c.2362A>T (p.Arg788Trp) c.2536A>T (p.Arg846Trp) | |
7 | g.41966534T>C | CA367320877 | GLI3 | c.2539A>G (p.Arg847Gly) c.2365A>G (p.Arg789Gly) n.2516A>G c.2362A>G (p.Arg788Gly) c.2536A>G (p.Arg846Gly) | |
7 | g.41966534T>G | CA454662788 | GLI3 | c.2539A>C (p.Arg847=) c.2365A>C (p.Arg789=) n.2516A>C c.2362A>C (p.Arg788=) c.2536A>C (p.Arg846=) | |
7 | g.41966535T>A | CA367320878 | GLI3 | c.2538A>T (p.Arg846Ser) c.2364A>T (p.Arg788Ser) n.2515A>T c.2361A>T (p.Arg787Ser) c.2535A>T (p.Arg845Ser) | |
7 | g.41966535T>C | CA454662789 | GLI3 | c.2538A>G (p.Arg846=) c.2364A>G (p.Arg788=) n.2515A>G c.2361A>G (p.Arg787=) c.2535A>G (p.Arg845=) | |
7 | g.41966535T>G | CA367320879 | GLI3 | c.2538A>C (p.Arg846Ser) c.2364A>C (p.Arg788Ser) n.2515A>C c.2361A>C (p.Arg787Ser) c.2535A>C (p.Arg845Ser) | |
7 | g.41966536C>A | CA367320880 | GLI3 | c.2537G>T (p.Arg846Ile) c.2363G>T (p.Arg788Ile) n.2514G>T c.2360G>T (p.Arg787Ile) c.2534G>T (p.Arg845Ile) | |
7 | g.41966536C>G | CA367320881 | GLI3 | c.2537G>C (p.Arg846Thr) c.2363G>C (p.Arg788Thr) n.2514G>C c.2360G>C (p.Arg787Thr) c.2534G>C (p.Arg845Thr) | |
7 | g.41966536C>T | CA367320882 | GLI3 | c.2537G>A (p.Arg846Lys) c.2363G>A (p.Arg788Lys) n.2514G>A c.2360G>A (p.Arg787Lys) c.2534G>A (p.Arg845Lys) | |
7 | g.41966537T>A | CA367320883 | GLI3 | c.2536A>T (p.Arg846Ter) c.2362A>T (p.Arg788Ter) n.2513A>T c.2359A>T (p.Arg787Ter) c.2533A>T (p.Arg845Ter) | |
7 | g.41966537T>C | CA367320884 | GLI3 | c.2536A>G (p.Arg846Gly) c.2362A>G (p.Arg788Gly) n.2513A>G c.2359A>G (p.Arg787Gly) c.2533A>G (p.Arg845Gly) | |
7 | g.41966537T>G | CA454662792 | GLI3 | c.2536A>C (p.Arg846=) c.2362A>C (p.Arg788=) n.2513A>C c.2359A>C (p.Arg787=) c.2533A>C (p.Arg845=) | |
7 | g.41966538G>A | CA454662794 | GLI3 | c.2535C>T (p.Asn845=) c.2361C>T (p.Asn787=) n.2512C>T c.2358C>T (p.Asn786=) c.2532C>T (p.Asn844=) | |
7 | g.41966538G>C | CA367320885 | GLI3 | c.2535C>G (p.Asn845Lys) c.2361C>G (p.Asn787Lys) n.2512C>G c.2358C>G (p.Asn786Lys) c.2532C>G (p.Asn844Lys) | |
7 | g.41966538G>T | CA367320886 | GLI3 | c.2535C>A (p.Asn845Lys) c.2361C>A (p.Asn787Lys) n.2512C>A c.2358C>A (p.Asn786Lys) c.2532C>A (p.Asn844Lys) | |
7 | g.41966539T>A | CA367320889 | GLI3 | c.2534A>T (p.Asn845Ile) c.2360A>T (p.Asn787Ile) n.2511A>T c.2357A>T (p.Asn786Ile) c.2531A>T (p.Asn844Ile) | |
7 | g.41966539T>C | CA367320888 | GLI3 | c.2534A>G (p.Asn845Ser) c.2360A>G (p.Asn787Ser) n.2511A>G c.2357A>G (p.Asn786Ser) c.2531A>G (p.Asn844Ser) | |
7 | g.41966539T>G | CA367320887 | GLI3 | c.2534A>C (p.Asn845Thr) c.2360A>C (p.Asn787Thr) n.2511A>C c.2357A>C (p.Asn786Thr) c.2531A>C (p.Asn844Thr) | |
7 | g.41966540del | CA2682510326 | GLI3 | c.2534del (p.Asn845ThrfsTer15) c.2360del (p.Asn787ThrfsTer15) n.2511del c.2357del (p.Asn786ThrfsTer15) c.2531del (p.Asn844ThrfsTer15) | gnomAD v4 |
7 | g.41966540T>A | CA367320890 | GLI3 | c.2533A>T (p.Asn845Tyr) c.2359A>T (p.Asn787Tyr) n.2510A>T c.2356A>T (p.Asn786Tyr) c.2530A>T (p.Asn844Tyr) | |
7 | g.41966540T>C | CA367320891 | GLI3 | c.2533A>G (p.Asn845Asp) c.2359A>G (p.Asn787Asp) n.2510A>G c.2356A>G (p.Asn786Asp) c.2530A>G (p.Asn844Asp) | |
7 | g.41966540T>G | CA367320892 | GLI3 | c.2533A>C (p.Asn845His) c.2359A>C (p.Asn787His) n.2510A>C c.2356A>C (p.Asn786His) c.2530A>C (p.Asn844His) | |
7 | g.41966541G>A | CA454662797 | GLI3 | c.2532C>T (p.Leu844=) c.2358C>T (p.Leu786=) n.2509C>T c.2355C>T (p.Leu785=) c.2529C>T (p.Leu843=) | gnomAD v4 |
7 | g.41966541G>C | CA454662799 | GLI3 | c.2532C>G (p.Leu844=) c.2358C>G (p.Leu786=) n.2509C>G c.2355C>G (p.Leu785=) c.2529C>G (p.Leu843=) | |
7 | g.41966541G>T | CA454662798 | GLI3 | c.2532C>A (p.Leu844=) c.2358C>A (p.Leu786=) n.2509C>A c.2355C>A (p.Leu785=) c.2529C>A (p.Leu843=) | |
7 | g.41966542A>C | CA367320893 | GLI3 | c.2531T>G (p.Leu844Arg) c.2357T>G (p.Leu786Arg) n.2508T>G c.2354T>G (p.Leu785Arg) c.2528T>G (p.Leu843Arg) | |
7 | g.41966542A>G | CA367320894 | GLI3 | c.2531T>C (p.Leu844Pro) c.2357T>C (p.Leu786Pro) n.2508T>C c.2354T>C (p.Leu785Pro) c.2528T>C (p.Leu843Pro) | |
7 | g.41966542A>T | CA367320895 | GLI3 | c.2531T>A (p.Leu844His) c.2357T>A (p.Leu786His) n.2508T>A c.2354T>A (p.Leu785His) c.2528T>A (p.Leu843His) | gnomAD v4 |
7 | g.41966543G>A | CA367320896 | GLI3 | c.2530C>T (p.Leu844Phe) c.2356C>T (p.Leu786Phe) n.2507C>T c.2353C>T (p.Leu785Phe) c.2527C>T (p.Leu843Phe) | |
7 | g.41966543G>C | CA367320897 | GLI3 | c.2530C>G (p.Leu844Val) c.2356C>G (p.Leu786Val) n.2507C>G c.2353C>G (p.Leu785Val) c.2527C>G (p.Leu843Val) | |
7 | g.41966543G>T | CA367320898 | GLI3 | c.2530C>A (p.Leu844Ile) c.2356C>A (p.Leu786Ile) n.2507C>A c.2353C>A (p.Leu785Ile) c.2527C>A (p.Leu843Ile) | |
7 | g.41966544C>A | CA367320899 | GLI3 | c.2529G>T (p.Met843Ile) c.2355G>T (p.Met785Ile) n.2506G>T c.2352G>T (p.Met784Ile) c.2526G>T (p.Met842Ile) | |
7 | g.41966544C>G | CA367320900 | GLI3 | c.2529G>C (p.Met843Ile) c.2355G>C (p.Met785Ile) n.2506G>C c.2352G>C (p.Met784Ile) c.2526G>C (p.Met842Ile) | |
7 | g.41966544C>T | CA367320901 | GLI3 | c.2529G>A (p.Met843Ile) c.2355G>A (p.Met785Ile) n.2506G>A c.2352G>A (p.Met784Ile) c.2526G>A (p.Met842Ile) | gnomAD v4 |
7 | g.41966545A>C | CA367320902 | GLI3 | c.2528T>G (p.Met843Arg) c.2354T>G (p.Met785Arg) n.2505T>G c.2351T>G (p.Met784Arg) c.2525T>G (p.Met842Arg) | gnomAD v4 |
7 | g.41966545A>G | CA367320904 | GLI3 | c.2528T>C (p.Met843Thr) c.2354T>C (p.Met785Thr) n.2505T>C c.2351T>C (p.Met784Thr) c.2525T>C (p.Met842Thr) | |
7 | g.41966545A>T | CA367320903 | GLI3 | c.2528T>A (p.Met843Lys) c.2354T>A (p.Met785Lys) n.2505T>A c.2351T>A (p.Met784Lys) c.2525T>A (p.Met842Lys) | |
7 | g.41966546T>A | CA367320905 | GLI3 | c.2527A>T (p.Met843Leu) c.2353A>T (p.Met785Leu) n.2504A>T c.2350A>T (p.Met784Leu) c.2524A>T (p.Met842Leu) | |
7 | g.41966546T>C | CA367320907 | GLI3 | c.2527A>G (p.Met843Val) c.2353A>G (p.Met785Val) n.2504A>G c.2350A>G (p.Met784Val) c.2524A>G (p.Met842Val) | |
7 | g.41966546T>G | CA367320906 | GLI3 | c.2527A>C (p.Met843Leu) c.2353A>C (p.Met785Leu) n.2504A>C c.2350A>C (p.Met784Leu) c.2524A>C (p.Met842Leu) | |
7 | g.41966547G>A | CA454662801 | GLI3 | c.2526C>T (p.Asn842=) c.2352C>T (p.Asn784=) n.2503C>T c.2349C>T (p.Asn783=) c.2523C>T (p.Asn841=) | |
7 | g.41966547G>C | CA367320908 | GLI3 | c.2526C>G (p.Asn842Lys) c.2352C>G (p.Asn784Lys) n.2503C>G c.2349C>G (p.Asn783Lys) c.2523C>G (p.Asn841Lys) | |
7 | g.41966547G>T | CA367320909 | GLI3 | c.2526C>A (p.Asn842Lys) c.2352C>A (p.Asn784Lys) n.2503C>A c.2349C>A (p.Asn783Lys) c.2523C>A (p.Asn841Lys) | |
7 | g.41966548T>A | CA367320910 | GLI3 | c.2525A>T (p.Asn842Ile) c.2351A>T (p.Asn784Ile) n.2502A>T c.2348A>T (p.Asn783Ile) c.2522A>T (p.Asn841Ile) | |
7 | g.41966548T>C | CA367320912 | GLI3 | c.2525A>G (p.Asn842Ser) c.2351A>G (p.Asn784Ser) n.2502A>G c.2348A>G (p.Asn783Ser) c.2522A>G (p.Asn841Ser) | |
7 | g.41966548T>G | CA367320911 | GLI3 | c.2525A>C (p.Asn842Thr) c.2351A>C (p.Asn784Thr) n.2502A>C c.2348A>C (p.Asn783Thr) c.2522A>C (p.Asn841Thr) | |
7 | g.41966549T>A | CA367320913 | GLI3 | c.2524A>T (p.Asn842Tyr) c.2350A>T (p.Asn784Tyr) n.2501A>T c.2347A>T (p.Asn783Tyr) c.2521A>T (p.Asn841Tyr) | |
7 | g.41966549T>C | CA367320915 | GLI3 | c.2524A>G (p.Asn842Asp) c.2350A>G (p.Asn784Asp) n.2501A>G c.2347A>G (p.Asn783Asp) c.2521A>G (p.Asn841Asp) | gnomAD v4 |
7 | g.41966549T>G | CA367320914 | GLI3 | c.2524A>C (p.Asn842His) c.2350A>C (p.Asn784His) n.2501A>C c.2347A>C (p.Asn783His) c.2521A>C (p.Asn841His) | |
7 | g.41966550C>A | CA454662803 | GLI3 | c.2523G>T (p.Leu841=) c.2349G>T (p.Leu783=) n.2500G>T c.2346G>T (p.Leu782=) c.2520G>T (p.Leu840=) | |
7 | g.41966550C>G | CA454662805 | GLI3 | c.2523G>C (p.Leu841=) c.2349G>C (p.Leu783=) n.2500G>C c.2346G>C (p.Leu782=) c.2520G>C (p.Leu840=) | |
7 | g.41966550C>T | CA454662807 | GLI3 | c.2523G>A (p.Leu841=) c.2349G>A (p.Leu783=) n.2500G>A c.2346G>A (p.Leu782=) c.2520G>A (p.Leu840=) | gnomAD v4 |
7 | g.41966551A>C | CA367320916 | GLI3 | c.2522T>G (p.Leu841Arg) c.2348T>G (p.Leu783Arg) n.2499T>G c.2345T>G (p.Leu782Arg) c.2519T>G (p.Leu840Arg) | |
7 | g.41966551A>G | CA367320917 | GLI3 | c.2522T>C (p.Leu841Pro) c.2348T>C (p.Leu783Pro) n.2499T>C c.2345T>C (p.Leu782Pro) c.2519T>C (p.Leu840Pro) | |
7 | g.41966551A>T | CA367320918 | GLI3 | c.2522T>A (p.Leu841Gln) c.2348T>A (p.Leu783Gln) n.2499T>A c.2345T>A (p.Leu782Gln) c.2519T>A (p.Leu840Gln) | |
7 | g.41966552G>A | CA454662809 | GLI3 | c.2521C>T (p.Leu841=) c.2347C>T (p.Leu783=) n.2498C>T c.2344C>T (p.Leu782=) c.2518C>T (p.Leu840=) | dbSNP |
7 | g.41966552G>C | CA367320919 | GLI3 | c.2521C>G (p.Leu841Val) c.2347C>G (p.Leu783Val) n.2498C>G c.2344C>G (p.Leu782Val) c.2518C>G (p.Leu840Val) | |
7 | g.41966552G= | CA1702661348 | GLI3 | c.2521C= (p.Leu841=) c.2347C= (p.Leu783=) n.2498C= c.2344C= (p.Leu782=) c.2518C= (p.Leu840=) | |
7 | g.41966552G>T | CA367320920 | GLI3 | c.2521C>A (p.Leu841Met) c.2347C>A (p.Leu783Met) n.2498C>A c.2344C>A (p.Leu782Met) c.2518C>A (p.Leu840Met) | |
7 | g.41966553C>A | CA367320923 | GLI3 | c.2520G>T (p.Met840Ile) c.2346G>T (p.Met782Ile) n.2497G>T c.2343G>T (p.Met781Ile) c.2517G>T (p.Met839Ile) | |
7 | g.41966553C= | CA1702661349 | GLI3 | c.2520G= (p.Met840=) c.2346G= (p.Met782=) n.2497G= c.2343G= (p.Met781=) c.2517G= (p.Met839=) | |
7 | g.41966553C>G | CA367320922 | GLI3 | c.2520G>C (p.Met840Ile) c.2346G>C (p.Met782Ile) n.2497G>C c.2343G>C (p.Met781Ile) c.2517G>C (p.Met839Ile) | |
7 | g.41966553C>T | CA367320921 | GLI3 | c.2520G>A (p.Met840Ile) c.2346G>A (p.Met782Ile) n.2497G>A c.2343G>A (p.Met781Ile) c.2517G>A (p.Met839Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966554A>C | CA367320924 | GLI3 | c.2519T>G (p.Met840Arg) c.2345T>G (p.Met782Arg) n.2496T>G c.2342T>G (p.Met781Arg) c.2516T>G (p.Met839Arg) | |
7 | g.41966554A>G | CA367320925 | GLI3 | c.2519T>C (p.Met840Thr) c.2345T>C (p.Met782Thr) n.2496T>C c.2342T>C (p.Met781Thr) c.2516T>C (p.Met839Thr) | COSMIC |
7 | g.41966554A>T | CA367320926 | GLI3 | c.2519T>A (p.Met840Lys) c.2345T>A (p.Met782Lys) n.2496T>A c.2342T>A (p.Met781Lys) c.2516T>A (p.Met839Lys) | |
7 | g.41966555T>A | CA367320927 | GLI3 | c.2518A>T (p.Met840Leu) c.2344A>T (p.Met782Leu) n.2495A>T c.2341A>T (p.Met781Leu) c.2515A>T (p.Met839Leu) | |
7 | g.41966555T>C | CA367320928 | GLI3 | c.2518A>G (p.Met840Val) c.2344A>G (p.Met782Val) n.2495A>G c.2341A>G (p.Met781Val) c.2515A>G (p.Met839Val) | gnomAD v4 |
7 | g.41966555T>G | CA367320929 | GLI3 | c.2518A>C (p.Met840Leu) c.2344A>C (p.Met782Leu) n.2495A>C c.2341A>C (p.Met781Leu) c.2515A>C (p.Met839Leu) | |
7 | g.41966556A>C | CA454662811 | GLI3 | c.2517T>G (p.Thr839=) c.2343T>G (p.Thr781=) n.2494T>G c.2340T>G (p.Thr780=) c.2514T>G (p.Thr838=) | |
7 | g.41966556A>G | CA454662812 | GLI3 | c.2517T>C (p.Thr839=) c.2343T>C (p.Thr781=) n.2494T>C c.2340T>C (p.Thr780=) c.2514T>C (p.Thr838=) | |
7 | g.41966556A>T | CA454662813 | GLI3 | c.2517T>A (p.Thr839=) c.2343T>A (p.Thr781=) n.2494T>A c.2340T>A (p.Thr780=) c.2514T>A (p.Thr838=) | gnomAD v4 |
7 | g.41966557G>A | CA367320930 | GLI3 | c.2516C>T (p.Thr839Ile) c.2342C>T (p.Thr781Ile) n.2493C>T c.2339C>T (p.Thr780Ile) c.2513C>T (p.Thr838Ile) | dbSNP gnomAD v2 |
7 | g.41966557G>C | CA367320932 | GLI3 | c.2516C>G (p.Thr839Ser) c.2342C>G (p.Thr781Ser) n.2493C>G c.2339C>G (p.Thr780Ser) c.2513C>G (p.Thr838Ser) | |
7 | g.41966557G= | CA1702661350 | GLI3 | c.2516C= (p.Thr839=) c.2342C= (p.Thr781=) n.2493C= c.2339C= (p.Thr780=) c.2513C= (p.Thr838=) | |
7 | g.41966557G>T | CA367320931 | GLI3 | c.2516C>A (p.Thr839Asn) c.2342C>A (p.Thr781Asn) n.2493C>A c.2339C>A (p.Thr780Asn) c.2513C>A (p.Thr838Asn) | |
7 | g.41966558T>A | CA367320933 | GLI3 | c.2515A>T (p.Thr839Ser) c.2341A>T (p.Thr781Ser) n.2492A>T c.2338A>T (p.Thr780Ser) c.2512A>T (p.Thr838Ser) | |
7 | g.41966558T>C | CA156907618 | GLI3 | c.2515A>G (p.Thr839Ala) c.2341A>G (p.Thr781Ala) n.2492A>G c.2338A>G (p.Thr780Ala) c.2512A>G (p.Thr838Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966558T>G | CA367320934 | GLI3 | c.2515A>C (p.Thr839Pro) c.2341A>C (p.Thr781Pro) n.2492A>C c.2338A>C (p.Thr780Pro) c.2512A>C (p.Thr838Pro) | |
7 | g.41966558T= | CA1702661351 | GLI3 | c.2515A= (p.Thr839=) c.2341A= (p.Thr781=) n.2492A= c.2338A= (p.Thr780=) c.2512A= (p.Thr838=) | |
7 | g.41966559G>A | CA454662817 | GLI3 | c.2514C>T (p.Val838=) c.2340C>T (p.Val780=) n.2491C>T c.2337C>T (p.Val779=) c.2511C>T (p.Val837=) | dbSNP gnomAD v4 COSMIC |
7 | g.41966559G>C | CA454662818 | GLI3 | c.2514C>G (p.Val838=) c.2340C>G (p.Val780=) n.2491C>G c.2337C>G (p.Val779=) c.2511C>G (p.Val837=) | |
7 | g.41966559G= | CA1702661352 | GLI3 | c.2514C= (p.Val838=) c.2340C= (p.Val780=) n.2491C= c.2337C= (p.Val779=) c.2511C= (p.Val837=) | |
7 | g.41966559G>T | CA454662819 | GLI3 | c.2514C>A (p.Val838=) c.2340C>A (p.Val780=) n.2491C>A c.2337C>A (p.Val779=) c.2511C>A (p.Val837=) | |
7 | g.41966560A>C | CA367320935 | GLI3 | c.2513T>G (p.Val838Gly) c.2339T>G (p.Val780Gly) n.2490T>G c.2336T>G (p.Val779Gly) c.2510T>G (p.Val837Gly) | |
7 | g.41966560A>G | CA367320936 | GLI3 | c.2513T>C (p.Val838Ala) c.2339T>C (p.Val780Ala) n.2490T>C c.2336T>C (p.Val779Ala) c.2510T>C (p.Val837Ala) | |
7 | g.41966560A>T | CA367320937 | GLI3 | c.2513T>A (p.Val838Asp) c.2339T>A (p.Val780Asp) n.2490T>A c.2336T>A (p.Val779Asp) c.2510T>A (p.Val837Asp) |