Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41966458_41966493dupCA1702661308GLI3c.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
7g.41966450_41966461dupCA2682510252GLI3c.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
7g.41966458_41966460delCA2596327538GLI3c.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
7g.41966460G>ACA454662700GLI3c.2613C>T (p.Phe871=)
c.2439C>T (p.Phe813=)
n.2590C>T
c.2436C>T (p.Phe812=)
c.2610C>T (p.Phe870=)
7g.41966460G>CCA367320711GLI3c.2613C>G (p.Phe871Leu)
c.2439C>G (p.Phe813Leu)
n.2590C>G
c.2436C>G (p.Phe812Leu)
c.2610C>G (p.Phe870Leu)
7g.41966460G>TCA367320712GLI3c.2613C>A (p.Phe871Leu)
c.2439C>A (p.Phe813Leu)
n.2590C>A
c.2436C>A (p.Phe812Leu)
c.2610C>A (p.Phe870Leu)
7g.41966461A=CA1702661319GLI3c.2612T= (p.Phe871=)
c.2438T= (p.Phe813=)
n.2589T=
c.2435T= (p.Phe812=)
c.2609T= (p.Phe870=)
7g.41966461A>CCA367320713GLI3c.2612T>G (p.Phe871Cys)
c.2438T>G (p.Phe813Cys)
n.2589T>G
c.2435T>G (p.Phe812Cys)
c.2609T>G (p.Phe870Cys)
7g.41966461A>GCA367320714GLI3c.2612T>C (p.Phe871Ser)
c.2438T>C (p.Phe813Ser)
n.2589T>C
c.2435T>C (p.Phe812Ser)
c.2609T>C (p.Phe870Ser)
7g.41966461A>TCA367320715GLI3c.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
7g.41966462A>CCA367320718GLI3c.2611T>G (p.Phe871Val)
c.2437T>G (p.Phe813Val)
n.2588T>G
c.2434T>G (p.Phe812Val)
c.2608T>G (p.Phe870Val)
7g.41966462A>GCA367320716GLI3c.2611T>C (p.Phe871Leu)
c.2437T>C (p.Phe813Leu)
n.2588T>C
c.2434T>C (p.Phe812Leu)
c.2608T>C (p.Phe870Leu)
7g.41966462A>TCA367320717GLI3c.2611T>A (p.Phe871Ile)
c.2437T>A (p.Phe813Ile)
n.2588T>A
c.2434T>A (p.Phe812Ile)
c.2608T>A (p.Phe870Ile)
7g.41966463G>ACA454662703GLI3c.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
7g.41966463G>CCA367320719GLI3c.2610C>G (p.Cys870Trp)
c.2436C>G (p.Cys812Trp)
n.2587C>G
c.2433C>G (p.Cys811Trp)
c.2607C>G (p.Cys869Trp)
7g.41966463G=CA1702661320GLI3c.2610C= (p.Cys870=)
c.2436C= (p.Cys812=)
n.2587C=
c.2433C= (p.Cys811=)
c.2607C= (p.Cys869=)
7g.41966463G>TCA367320720GLI3c.2610C>A (p.Cys870Ter)
c.2436C>A (p.Cys812Ter)
n.2587C>A
c.2433C>A (p.Cys811Ter)
c.2607C>A (p.Cys869Ter)
ClinVar
7g.41966464C>ACA367320721GLI3c.2609G>T (p.Cys870Phe)
c.2435G>T (p.Cys812Phe)
n.2586G>T
c.2432G>T (p.Cys811Phe)
c.2606G>T (p.Cys869Phe)
7g.41966464C>GCA367320722GLI3c.2609G>C (p.Cys870Ser)
c.2435G>C (p.Cys812Ser)
n.2586G>C
c.2432G>C (p.Cys811Ser)
c.2606G>C (p.Cys869Ser)
7g.41966464C>TCA367320723GLI3c.2609G>A (p.Cys870Tyr)
c.2435G>A (p.Cys812Tyr)
n.2586G>A
c.2432G>A (p.Cys811Tyr)
c.2606G>A (p.Cys869Tyr)
7g.41966465A>CCA367320724GLI3c.2608T>G (p.Cys870Gly)
c.2434T>G (p.Cys812Gly)
n.2585T>G
c.2431T>G (p.Cys811Gly)
c.2605T>G (p.Cys869Gly)
ClinVar
7g.41966465A>GCA367320726GLI3c.2608T>C (p.Cys870Arg)
c.2434T>C (p.Cys812Arg)
n.2585T>C
c.2431T>C (p.Cys811Arg)
c.2605T>C (p.Cys869Arg)
7g.41966465A>TCA367320725GLI3c.2608T>A (p.Cys870Ser)
c.2434T>A (p.Cys812Ser)
n.2585T>A
c.2431T>A (p.Cys811Ser)
c.2605T>A (p.Cys869Ser)
7g.41966466G>ACA156907566GLI3c.2607C>T (p.Pro869=)
c.2433C>T (p.Pro811=)
n.2584C>T
c.2430C>T (p.Pro810=)
c.2604C>T (p.Pro868=)
dbSNP
7g.41966466G>CCA454662707GLI3c.2607C>G (p.Pro869=)
c.2433C>G (p.Pro811=)
n.2584C>G
c.2430C>G (p.Pro810=)
c.2604C>G (p.Pro868=)
7g.41966466G=CA1702661321GLI3c.2607C= (p.Pro869=)
c.2433C= (p.Pro811=)
n.2584C=
c.2430C= (p.Pro810=)
c.2604C= (p.Pro868=)
7g.41966466G>TCA454662708GLI3c.2607C>A (p.Pro869=)
c.2433C>A (p.Pro811=)
n.2584C>A
c.2430C>A (p.Pro810=)
c.2604C>A (p.Pro868=)
7g.41966467G>ACA367320727GLI3c.2606C>T (p.Pro869Leu)
c.2432C>T (p.Pro811Leu)
n.2583C>T
c.2429C>T (p.Pro810Leu)
c.2603C>T (p.Pro868Leu)
COSMIC
7g.41966467G>CCA367320728GLI3c.2606C>G (p.Pro869Arg)
c.2432C>G (p.Pro811Arg)
n.2583C>G
c.2429C>G (p.Pro810Arg)
c.2603C>G (p.Pro868Arg)
7g.41966467G>TCA367320729GLI3c.2606C>A (p.Pro869His)
c.2432C>A (p.Pro811His)
n.2583C>A
c.2429C>A (p.Pro810His)
c.2603C>A (p.Pro868His)
7g.41966468G>ACA367320730GLI3c.2605C>T (p.Pro869Ser)
c.2431C>T (p.Pro811Ser)
n.2582C>T
c.2428C>T (p.Pro810Ser)
c.2602C>T (p.Pro868Ser)
ClinVar dbSNP
7g.41966468G>CCA367320731GLI3c.2605C>G (p.Pro869Ala)
c.2431C>G (p.Pro811Ala)
n.2582C>G
c.2428C>G (p.Pro810Ala)
c.2602C>G (p.Pro868Ala)
7g.41966468G=CA1702661322GLI3c.2605C= (p.Pro869=)
c.2431C= (p.Pro811=)
n.2582C=
c.2428C= (p.Pro810=)
c.2602C= (p.Pro868=)
7g.41966468G>TCA367320732GLI3c.2605C>A (p.Pro869Thr)
c.2431C>A (p.Pro811Thr)
n.2582C>A
c.2428C>A (p.Pro810Thr)
c.2602C>A (p.Pro868Thr)
7g.41966469C>ACA454662709GLI3c.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
7g.41966469C=CA1702661323GLI3c.2604G= (p.Ser868=)
c.2430G= (p.Ser810=)
n.2581G=
c.2427G= (p.Ser809=)
c.2601G= (p.Ser867=)
7g.41966469C>GCA4230564GLI3c.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
7g.41966469C>TCA156907589GLI3c.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
7g.41966470G>ACA367320733GLI3c.2603C>T (p.Ser868Leu)
c.2429C>T (p.Ser810Leu)
n.2580C>T
c.2426C>T (p.Ser809Leu)
c.2600C>T (p.Ser867Leu)
7g.41966470G>CCA367320735GLI3c.2603C>G (p.Ser868Trp)
c.2429C>G (p.Ser810Trp)
n.2580C>G
c.2426C>G (p.Ser809Trp)
c.2600C>G (p.Ser867Trp)
7g.41966470G>TCA367320734GLI3c.2603C>A (p.Ser868Ter)
c.2429C>A (p.Ser810Ter)
n.2580C>A
c.2426C>A (p.Ser809Ter)
c.2600C>A (p.Ser867Ter)
7g.41966471A>CCA367320736GLI3c.2602T>G (p.Ser868Ala)
c.2428T>G (p.Ser810Ala)
n.2579T>G
c.2425T>G (p.Ser809Ala)
c.2599T>G (p.Ser867Ala)
7g.41966471A>GCA367320737GLI3c.2602T>C (p.Ser868Pro)
c.2428T>C (p.Ser810Pro)
n.2579T>C
c.2425T>C (p.Ser809Pro)
c.2599T>C (p.Ser867Pro)
7g.41966471A>TCA367320738GLI3c.2602T>A (p.Ser868Thr)
c.2428T>A (p.Ser810Thr)
n.2579T>A
c.2425T>A (p.Ser809Thr)
c.2599T>A (p.Ser867Thr)
7g.41966472G>ACA454662710GLI3c.2601C>T (p.Ile867=)
c.2427C>T (p.Ile809=)
n.2578C>T
c.2424C>T (p.Ile808=)
c.2598C>T (p.Ile866=)
gnomAD v4
7g.41966472G>CCA367320739GLI3c.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
7g.41966472G=CA1702661324GLI3c.2601C= (p.Ile867=)
c.2427C= (p.Ile809=)
n.2578C=
c.2424C= (p.Ile808=)
c.2598C= (p.Ile866=)
7g.41966472G>TCA454662712GLI3c.2601C>A (p.Ile867=)
c.2427C>A (p.Ile809=)
n.2578C>A
c.2424C>A (p.Ile808=)
c.2598C>A (p.Ile866=)
gnomAD v4
7g.41966473A>CCA367320742GLI3c.2600T>G (p.Ile867Ser)
c.2426T>G (p.Ile809Ser)
n.2577T>G
c.2423T>G (p.Ile808Ser)
c.2597T>G (p.Ile866Ser)
7g.41966473A>GCA367320740GLI3c.2600T>C (p.Ile867Thr)
c.2426T>C (p.Ile809Thr)
n.2577T>C
c.2423T>C (p.Ile808Thr)
c.2597T>C (p.Ile866Thr)
7g.41966473A>TCA367320741GLI3c.2600T>A (p.Ile867Asn)
c.2426T>A (p.Ile809Asn)
n.2577T>A
c.2423T>A (p.Ile808Asn)
c.2597T>A (p.Ile866Asn)
7g.41966474T>ACA367320743GLI3c.2599A>T (p.Ile867Phe)
c.2425A>T (p.Ile809Phe)
n.2576A>T
c.2422A>T (p.Ile808Phe)
c.2596A>T (p.Ile866Phe)
gnomAD v4
7g.41966474T>CCA367320744GLI3c.2599A>G (p.Ile867Val)
c.2425A>G (p.Ile809Val)
n.2576A>G
c.2422A>G (p.Ile808Val)
c.2596A>G (p.Ile866Val)
7g.41966474T>GCA367320745GLI3c.2599A>C (p.Ile867Leu)
c.2425A>C (p.Ile809Leu)
n.2576A>C
c.2422A>C (p.Ile808Leu)
c.2596A>C (p.Ile866Leu)
7g.41966475C>ACA454662713GLI3c.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
7g.41966475C=CA1702661325GLI3c.2598G= (p.Gly866=)
c.2424G= (p.Gly808=)
n.2575G=
c.2421G= (p.Gly807=)
c.2595G= (p.Gly865=)
7g.41966475C>GCA454662715GLI3c.2598G>C (p.Gly866=)
c.2424G>C (p.Gly808=)
n.2575G>C
c.2421G>C (p.Gly807=)
c.2595G>C (p.Gly865=)
gnomAD v4
7g.41966475C>TCA454662717GLI3c.2598G>A (p.Gly866=)
c.2424G>A (p.Gly808=)
n.2575G>A
c.2421G>A (p.Gly807=)
c.2595G>A (p.Gly865=)
gnomAD v4
7g.41966477delCA2573052874GLI3c.2598del (p.Ile867SerfsTer23)
c.2424del (p.Ile809SerfsTer23)
n.2575del
c.2421del (p.Ile808SerfsTer23)
c.2595del (p.Ile866SerfsTer23)
ClinVar dbSNP
7g.41966476C>ACA367320746GLI3c.2597G>T (p.Gly866Val)
c.2423G>T (p.Gly808Val)
n.2574G>T
c.2420G>T (p.Gly807Val)
c.2594G>T (p.Gly865Val)
7g.41966476C>GCA367320747GLI3c.2597G>C (p.Gly866Ala)
c.2423G>C (p.Gly808Ala)
n.2574G>C
c.2420G>C (p.Gly807Ala)
c.2594G>C (p.Gly865Ala)
7g.41966476C>TCA367320748GLI3c.2597G>A (p.Gly866Glu)
c.2423G>A (p.Gly808Glu)
n.2574G>A
c.2420G>A (p.Gly807Glu)
c.2594G>A (p.Gly865Glu)
7g.41966477C>ACA367320749GLI3c.2596G>T (p.Gly866Trp)
c.2422G>T (p.Gly808Trp)
n.2573G>T
c.2419G>T (p.Gly807Trp)
c.2593G>T (p.Gly865Trp)
7g.41966477C>GCA367320750GLI3c.2596G>C (p.Gly866Arg)
c.2422G>C (p.Gly808Arg)
n.2573G>C
c.2419G>C (p.Gly807Arg)
c.2593G>C (p.Gly865Arg)
7g.41966477C>TCA367320751GLI3c.2596G>A (p.Gly866Arg)
c.2422G>A (p.Gly808Arg)
n.2573G>A
c.2419G>A (p.Gly807Arg)
c.2593G>A (p.Gly865Arg)
7g.41966478T>ACA454662719GLI3c.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
7g.41966478T>CCA4230565GLI3c.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
7g.41966478T>GCA454662720GLI3c.2595A>C (p.Ser865=)
c.2421A>C (p.Ser807=)
n.2572A>C
c.2418A>C (p.Ser806=)
c.2592A>C (p.Ser864=)
7g.41966478T=CA1702661326GLI3c.2595A= (p.Ser865=)
c.2421A= (p.Ser807=)
n.2572A=
c.2418A= (p.Ser806=)
c.2592A= (p.Ser864=)
7g.41966479G>ACA367320752GLI3c.2594C>T (p.Ser865Leu)
c.2420C>T (p.Ser807Leu)
n.2571C>T
c.2417C>T (p.Ser806Leu)
c.2591C>T (p.Ser864Leu)
7g.41966479G>CCA367320753GLI3c.2594C>G (p.Ser865Ter)
c.2420C>G (p.Ser807Ter)
n.2571C>G
c.2417C>G (p.Ser806Ter)
c.2591C>G (p.Ser864Ter)
ClinVar dbSNP
7g.41966479G>TCA367320754GLI3c.2594C>A (p.Ser865Ter)
c.2420C>A (p.Ser807Ter)
n.2571C>A
c.2417C>A (p.Ser806Ter)
c.2591C>A (p.Ser864Ter)
7g.41966480A>CCA367320755GLI3c.2593T>G (p.Ser865Ala)
c.2419T>G (p.Ser807Ala)
n.2570T>G
c.2416T>G (p.Ser806Ala)
c.2590T>G (p.Ser864Ala)
7g.41966480A>GCA367320757GLI3c.2593T>C (p.Ser865Pro)
c.2419T>C (p.Ser807Pro)
n.2570T>C
c.2416T>C (p.Ser806Pro)
c.2590T>C (p.Ser864Pro)
7g.41966480A>TCA367320756GLI3c.2593T>A (p.Ser865Thr)
c.2419T>A (p.Ser807Thr)
n.2570T>A
c.2416T>A (p.Ser806Thr)
c.2590T>A (p.Ser864Thr)
7g.41966481G>ACA454662722GLI3c.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
7g.41966481G>CCA4230566GLI3c.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
7g.41966481G=CA1702661327GLI3c.2592C= (p.Ser864=)
c.2418C= (p.Ser806=)
n.2569C=
c.2415C= (p.Ser805=)
c.2589C= (p.Ser863=)
7g.41966481G>TCA454662723GLI3c.2592C>A (p.Ser864=)
c.2418C>A (p.Ser806=)
n.2569C>A
c.2415C>A (p.Ser805=)
c.2589C>A (p.Ser863=)
7g.41966482G>ACA367320758GLI3c.2591C>T (p.Ser864Phe)
c.2417C>T (p.Ser806Phe)
n.2568C>T
c.2414C>T (p.Ser805Phe)
c.2588C>T (p.Ser863Phe)
COSMIC
7g.41966482G>CCA367320759GLI3c.2591C>G (p.Ser864Cys)
c.2417C>G (p.Ser806Cys)
n.2568C>G
c.2414C>G (p.Ser805Cys)
c.2588C>G (p.Ser863Cys)
7g.41966482G>TCA367320760GLI3c.2591C>A (p.Ser864Tyr)
c.2417C>A (p.Ser806Tyr)
n.2568C>A
c.2414C>A (p.Ser805Tyr)
c.2588C>A (p.Ser863Tyr)
7g.41966483A>CCA367320761GLI3c.2590T>G (p.Ser864Ala)
c.2416T>G (p.Ser806Ala)
n.2567T>G
c.2413T>G (p.Ser805Ala)
c.2587T>G (p.Ser863Ala)
7g.41966483A>GCA367320762GLI3c.2590T>C (p.Ser864Pro)
c.2416T>C (p.Ser806Pro)
n.2567T>C
c.2413T>C (p.Ser805Pro)
c.2587T>C (p.Ser863Pro)
gnomAD v4
7g.41966483A>TCA367320763GLI3c.2590T>A (p.Ser864Thr)
c.2416T>A (p.Ser806Thr)
n.2567T>A
c.2413T>A (p.Ser805Thr)
c.2587T>A (p.Ser863Thr)
7g.41966484G>ACA454662725GLI3c.2589C>T (p.Arg863=)
c.2415C>T (p.Arg805=)
n.2566C>T
c.2412C>T (p.Arg804=)
c.2586C>T (p.Arg862=)
gnomAD v4
7g.41966484G>CCA454662726GLI3c.2589C>G (p.Arg863=)
c.2415C>G (p.Arg805=)
n.2566C>G
c.2412C>G (p.Arg804=)
c.2586C>G (p.Arg862=)
7g.41966484G>TCA454662727GLI3c.2589C>A (p.Arg863=)
c.2415C>A (p.Arg805=)
n.2566C>A
c.2412C>A (p.Arg804=)
c.2586C>A (p.Arg862=)
gnomAD v4
7g.41966485C>ACA367320764GLI3c.2588G>T (p.Arg863Leu)
c.2414G>T (p.Arg805Leu)
n.2565G>T
c.2411G>T (p.Arg804Leu)
c.2585G>T (p.Arg862Leu)
gnomAD v4
7g.41966485C=CA1702661328GLI3c.2588G= (p.Arg863=)
c.2414G= (p.Arg805=)
n.2565G=
c.2411G= (p.Arg804=)
c.2585G= (p.Arg862=)
7g.41966485C>GCA367320765GLI3c.2588G>C (p.Arg863Pro)
c.2414G>C (p.Arg805Pro)
n.2565G>C
c.2411G>C (p.Arg804Pro)
c.2585G>C (p.Arg862Pro)
gnomAD v4
7g.41966485C>TCA367320766GLI3c.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
7g.41966486G>ACA367320767GLI3c.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
7g.41966486G>CCA367320768GLI3c.2587C>G (p.Arg863Gly)
c.2413C>G (p.Arg805Gly)
n.2564C>G
c.2410C>G (p.Arg804Gly)
c.2584C>G (p.Arg862Gly)
gnomAD v4
7g.41966486G=CA1702661329GLI3c.2587C= (p.Arg863=)
c.2413C= (p.Arg805=)
n.2564C=
c.2410C= (p.Arg804=)
c.2584C= (p.Arg862=)
7g.41966486G>TCA367320769GLI3c.2587C>A (p.Arg863Ser)
c.2413C>A (p.Arg805Ser)
n.2564C>A
c.2410C>A (p.Arg804Ser)
c.2584C>A (p.Arg862Ser)
dbSNP
7g.41966487G>ACA454662731GLI3c.2586C>T (p.Arg862=)
c.2412C>T (p.Arg804=)
n.2563C>T
c.2409C>T (p.Arg803=)
c.2583C>T (p.Arg861=)
7g.41966487G>CCA454662732GLI3c.2586C>G (p.Arg862=)
c.2412C>G (p.Arg804=)
n.2563C>G
c.2409C>G (p.Arg803=)
c.2583C>G (p.Arg861=)
7g.41966487G>TCA454662733GLI3c.2586C>A (p.Arg862=)
c.2412C>A (p.Arg804=)
n.2563C>A
c.2409C>A (p.Arg803=)
c.2583C>A (p.Arg861=)
7g.41966488C>ACA367320770GLI3c.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
7g.41966488C=CA1702661330GLI3c.2585G= (p.Arg862=)
c.2411G= (p.Arg804=)
n.2562G=
c.2408G= (p.Arg803=)
c.2582G= (p.Arg861=)
7g.41966488C>GCA367320772GLI3c.2585G>C (p.Arg862Pro)
c.2411G>C (p.Arg804Pro)
n.2562G>C
c.2408G>C (p.Arg803Pro)
c.2582G>C (p.Arg861Pro)
7g.41966488C>TCA367320771GLI3c.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
7g.41966489G>ACA367320773GLI3c.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
7g.41966489G>CCA367320774GLI3c.2584C>G (p.Arg862Gly)
c.2410C>G (p.Arg804Gly)
n.2561C>G
c.2407C>G (p.Arg803Gly)
c.2581C>G (p.Arg861Gly)
7g.41966489G=CA1702661331GLI3c.2584C= (p.Arg862=)
c.2410C= (p.Arg804=)
n.2561C=
c.2407C= (p.Arg803=)
c.2581C= (p.Arg861=)
7g.41966489G>TCA367320775GLI3c.2584C>A (p.Arg862Ser)
c.2410C>A (p.Arg804Ser)
n.2561C>A
c.2407C>A (p.Arg803Ser)
c.2581C>A (p.Arg861Ser)
7g.41966490G>ACA454662734GLI3c.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
7g.41966490G>CCA367320776GLI3c.2583C>G (p.Ser861Arg)
c.2409C>G (p.Ser803Arg)
n.2560C>G
c.2406C>G (p.Ser802Arg)
c.2580C>G (p.Ser860Arg)
7g.41966490G=CA1702661332GLI3c.2583C= (p.Ser861=)
c.2409C= (p.Ser803=)
n.2560C=
c.2406C= (p.Ser802=)
c.2580C= (p.Ser860=)
7g.41966490G>TCA367320777GLI3c.2583C>A (p.Ser861Arg)
c.2409C>A (p.Ser803Arg)
n.2560C>A
c.2406C>A (p.Ser802Arg)
c.2580C>A (p.Ser860Arg)
7g.41966491C>ACA367320778GLI3c.2582G>T (p.Ser861Ile)
c.2408G>T (p.Ser803Ile)
n.2559G>T
c.2405G>T (p.Ser802Ile)
c.2579G>T (p.Ser860Ile)
7g.41966491C>GCA367320779GLI3c.2582G>C (p.Ser861Thr)
c.2408G>C (p.Ser803Thr)
n.2559G>C
c.2405G>C (p.Ser802Thr)
c.2579G>C (p.Ser860Thr)
dbSNP
7g.41966491C>TCA367320780GLI3c.2582G>A (p.Ser861Asn)
c.2408G>A (p.Ser803Asn)
n.2559G>A
c.2405G>A (p.Ser802Asn)
c.2579G>A (p.Ser860Asn)
7g.41966492T>ACA367320781GLI3c.2581A>T (p.Ser861Cys)
c.2407A>T (p.Ser803Cys)
n.2558A>T
c.2404A>T (p.Ser802Cys)
c.2578A>T (p.Ser860Cys)
7g.41966492T>CCA367320782GLI3c.2581A>G (p.Ser861Gly)
c.2407A>G (p.Ser803Gly)
n.2558A>G
c.2404A>G (p.Ser802Gly)
c.2578A>G (p.Ser860Gly)
7g.41966492T>GCA367320783GLI3c.2581A>C (p.Ser861Arg)
c.2407A>C (p.Ser803Arg)
n.2558A>C
c.2404A>C (p.Ser802Arg)
c.2578A>C (p.Ser860Arg)
7g.41966493G>ACA454662738GLI3c.2580C>T (p.Ser860=)
c.2406C>T (p.Ser802=)
n.2557C>T
c.2403C>T (p.Ser801=)
c.2577C>T (p.Ser859=)
7g.41966493G>CCA367320784GLI3c.2580C>G (p.Ser860Arg)
c.2406C>G (p.Ser802Arg)
n.2557C>G
c.2403C>G (p.Ser801Arg)
c.2577C>G (p.Ser859Arg)
7g.41966493G>TCA367320785GLI3c.2580C>A (p.Ser860Arg)
c.2406C>A (p.Ser802Arg)
n.2557C>A
c.2403C>A (p.Ser801Arg)
c.2577C>A (p.Ser859Arg)
7g.41966494C>ACA367320786GLI3c.2579G>T (p.Ser860Ile)
c.2405G>T (p.Ser802Ile)
n.2556G>T
c.2402G>T (p.Ser801Ile)
c.2576G>T (p.Ser859Ile)
7g.41966494C>GCA367320788GLI3c.2579G>C (p.Ser860Thr)
c.2405G>C (p.Ser802Thr)
n.2556G>C
c.2402G>C (p.Ser801Thr)
c.2576G>C (p.Ser859Thr)
7g.41966494C>TCA367320787GLI3c.2579G>A (p.Ser860Asn)
c.2405G>A (p.Ser802Asn)
n.2556G>A
c.2402G>A (p.Ser801Asn)
c.2576G>A (p.Ser859Asn)
7g.41966495T>ACA367320789GLI3c.2578A>T (p.Ser860Cys)
c.2404A>T (p.Ser802Cys)
n.2555A>T
c.2401A>T (p.Ser801Cys)
c.2575A>T (p.Ser859Cys)
7g.41966495T>CCA367320791GLI3c.2578A>G (p.Ser860Gly)
c.2404A>G (p.Ser802Gly)
n.2555A>G
c.2401A>G (p.Ser801Gly)
c.2575A>G (p.Ser859Gly)
7g.41966495T>GCA367320790GLI3c.2578A>C (p.Ser860Arg)
c.2404A>C (p.Ser802Arg)
n.2555A>C
c.2401A>C (p.Ser801Arg)
c.2575A>C (p.Ser859Arg)
7g.41966496C>ACA454662739GLI3c.2577G>T (p.Leu859=)
c.2403G>T (p.Leu801=)
n.2554G>T
c.2400G>T (p.Leu800=)
c.2574G>T (p.Leu858=)
7g.41966496C=CA1702661333GLI3c.2577G= (p.Leu859=)
c.2403G= (p.Leu801=)
n.2554G=
c.2400G= (p.Leu800=)
c.2574G= (p.Leu858=)
7g.41966496C>GCA454662740GLI3c.2577G>C (p.Leu859=)
c.2403G>C (p.Leu801=)
n.2554G>C
c.2400G>C (p.Leu800=)
c.2574G>C (p.Leu858=)
7g.41966496C>TCA454662741GLI3c.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
7g.41966497A>CCA367320792GLI3c.2576T>G (p.Leu859Arg)
c.2402T>G (p.Leu801Arg)
n.2553T>G
c.2399T>G (p.Leu800Arg)
c.2573T>G (p.Leu858Arg)
7g.41966497A>GCA367320793GLI3c.2576T>C (p.Leu859Pro)
c.2402T>C (p.Leu801Pro)
n.2553T>C
c.2399T>C (p.Leu800Pro)
c.2573T>C (p.Leu858Pro)
gnomAD v4
7g.41966497A>TCA367320794GLI3c.2576T>A (p.Leu859Gln)
c.2402T>A (p.Leu801Gln)
n.2553T>A
c.2399T>A (p.Leu800Gln)
c.2573T>A (p.Leu858Gln)
gnomAD v4
7g.41966498G>ACA454662742GLI3c.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
7g.41966498G>CCA367320795GLI3c.2575C>G (p.Leu859Val)
c.2401C>G (p.Leu801Val)
n.2552C>G
c.2398C>G (p.Leu800Val)
c.2572C>G (p.Leu858Val)
dbSNP
7g.41966498G=CA1702661334GLI3c.2575C= (p.Leu859=)
c.2401C= (p.Leu801=)
n.2552C=
c.2398C= (p.Leu800=)
c.2572C= (p.Leu858=)
7g.41966498G>TCA367320796GLI3c.2575C>A (p.Leu859Met)
c.2401C>A (p.Leu801Met)
n.2552C>A
c.2398C>A (p.Leu800Met)
c.2572C>A (p.Leu858Met)
7g.41966499G>ACA454662744GLI3c.2574C>T (p.Tyr858=)
c.2400C>T (p.Tyr800=)
n.2551C>T
c.2397C>T (p.Tyr799=)
c.2571C>T (p.Tyr857=)
7g.41966499G>CCA367320797GLI3c.2574C>G (p.Tyr858Ter)
c.2400C>G (p.Tyr800Ter)
n.2551C>G
c.2397C>G (p.Tyr799Ter)
c.2571C>G (p.Tyr857Ter)
7g.41966499G>TCA367320798GLI3c.2574C>A (p.Tyr858Ter)
c.2400C>A (p.Tyr800Ter)
n.2551C>A
c.2397C>A (p.Tyr799Ter)
c.2571C>A (p.Tyr857Ter)
7g.41966500T>ACA367320799GLI3c.2573A>T (p.Tyr858Phe)
c.2399A>T (p.Tyr800Phe)
n.2550A>T
c.2396A>T (p.Tyr799Phe)
c.2570A>T (p.Tyr857Phe)
7g.41966500T>CCA367320800GLI3c.2573A>G (p.Tyr858Cys)
c.2399A>G (p.Tyr800Cys)
n.2550A>G
c.2396A>G (p.Tyr799Cys)
c.2570A>G (p.Tyr857Cys)
7g.41966500T>GCA367320801GLI3c.2573A>C (p.Tyr858Ser)
c.2399A>C (p.Tyr800Ser)
n.2550A>C
c.2396A>C (p.Tyr799Ser)
c.2570A>C (p.Tyr857Ser)
7g.41966501A=CA1702661335GLI3c.2572T= (p.Tyr858=)
c.2398T= (p.Tyr800=)
n.2549T=
c.2395T= (p.Tyr799=)
c.2569T= (p.Tyr857=)
7g.41966501A>CCA367320802GLI3c.2572T>G (p.Tyr858Asp)
c.2398T>G (p.Tyr800Asp)
n.2549T>G
c.2395T>G (p.Tyr799Asp)
c.2569T>G (p.Tyr857Asp)
7g.41966501A>GCA367320803GLI3c.2572T>C (p.Tyr858His)
c.2398T>C (p.Tyr800His)
n.2549T>C
c.2395T>C (p.Tyr799His)
c.2569T>C (p.Tyr857His)
7g.41966501A>TCA367320804GLI3c.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
7g.41966502G>ACA4230567GLI3c.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
7g.41966502G>CCA454662746GLI3c.2571C>G (p.Ala857=)
c.2397C>G (p.Ala799=)
n.2548C>G
c.2394C>G (p.Ala798=)
c.2568C>G (p.Ala856=)
7g.41966502G=CA1702661336GLI3c.2571C= (p.Ala857=)
c.2397C= (p.Ala799=)
n.2548C=
c.2394C= (p.Ala798=)
c.2568C= (p.Ala856=)
7g.41966502G>TCA454662747GLI3c.2571C>A (p.Ala857=)
c.2397C>A (p.Ala799=)
n.2548C>A
c.2394C>A (p.Ala798=)
c.2568C>A (p.Ala856=)
7g.41966503G>ACA367320805GLI3c.2570C>T (p.Ala857Val)
c.2396C>T (p.Ala799Val)
n.2547C>T
c.2393C>T (p.Ala798Val)
c.2567C>T (p.Ala856Val)
7g.41966503G>CCA367320806GLI3c.2570C>G (p.Ala857Gly)
c.2396C>G (p.Ala799Gly)
n.2547C>G
c.2393C>G (p.Ala798Gly)
c.2567C>G (p.Ala856Gly)
7g.41966503G>TCA367320807GLI3c.2570C>A (p.Ala857Asp)
c.2396C>A (p.Ala799Asp)
n.2547C>A
c.2393C>A (p.Ala798Asp)
c.2567C>A (p.Ala856Asp)
7g.41966504C>ACA367320808GLI3c.2569G>T (p.Ala857Ser)
c.2395G>T (p.Ala799Ser)
n.2546G>T
c.2392G>T (p.Ala798Ser)
c.2566G>T (p.Ala856Ser)
7g.41966504C>GCA367320809GLI3c.2569G>C (p.Ala857Pro)
c.2395G>C (p.Ala799Pro)
n.2546G>C
c.2392G>C (p.Ala798Pro)
c.2566G>C (p.Ala856Pro)
7g.41966504C>TCA367320810GLI3c.2569G>A (p.Ala857Thr)
c.2395G>A (p.Ala799Thr)
n.2546G>A
c.2392G>A (p.Ala798Thr)
c.2566G>A (p.Ala856Thr)
7g.41966505C>ACA4230569GLI3c.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
7g.41966505C=CA1702661337GLI3c.2568G= (p.Ser856=)
c.2394G= (p.Ser798=)
n.2545G=
c.2391G= (p.Ser797=)
c.2565G= (p.Ser855=)
7g.41966505C>GCA4230568GLI3c.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
7g.41966505C>TCA454662751GLI3c.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
7g.41966506G>ACA367320811GLI3c.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
7g.41966506G>CCA367320812GLI3c.2567C>G (p.Ser856Trp)
c.2393C>G (p.Ser798Trp)
n.2544C>G
c.2390C>G (p.Ser797Trp)
c.2564C>G (p.Ser855Trp)
7g.41966506G=CA1702661338GLI3c.2567C= (p.Ser856=)
c.2393C= (p.Ser798=)
n.2544C=
c.2390C= (p.Ser797=)
c.2564C= (p.Ser855=)
7g.41966506G>TCA342932GLI3c.2567C>A (p.Ser856Ter)
c.2393C>A (p.Ser798Ter)
n.2544C>A
c.2390C>A (p.Ser797Ter)
c.2564C>A (p.Ser855Ter)
dbSNP
7g.41966507A>CCA367320815GLI3c.2566T>G (p.Ser856Ala)
c.2392T>G (p.Ser798Ala)
n.2543T>G
c.2389T>G (p.Ser797Ala)
c.2563T>G (p.Ser855Ala)
7g.41966507A>GCA367320814GLI3c.2566T>C (p.Ser856Pro)
c.2392T>C (p.Ser798Pro)
n.2543T>C
c.2389T>C (p.Ser797Pro)
c.2563T>C (p.Ser855Pro)
7g.41966507A>TCA367320813GLI3c.2566T>A (p.Ser856Thr)
c.2392T>A (p.Ser798Thr)
n.2543T>A
c.2389T>A (p.Ser797Thr)
c.2563T>A (p.Ser855Thr)
7g.41966508G>ACA4230570GLI3c.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
7g.41966508G>CCA367320816GLI3c.2565C>G (p.Ser855Arg)
c.2391C>G (p.Ser797Arg)
n.2542C>G
c.2388C>G (p.Ser796Arg)
c.2562C>G (p.Ser854Arg)
7g.41966508G=CA1702661339GLI3c.2565C= (p.Ser855=)
c.2391C= (p.Ser797=)
n.2542C=
c.2388C= (p.Ser796=)
c.2562C= (p.Ser854=)
7g.41966508G>TCA367320817GLI3c.2565C>A (p.Ser855Arg)
c.2391C>A (p.Ser797Arg)
n.2542C>A
c.2388C>A (p.Ser796Arg)
c.2562C>A (p.Ser854Arg)
7g.41966509C>ACA367320818GLI3c.2564G>T (p.Ser855Ile)
c.2390G>T (p.Ser797Ile)
n.2541G>T
c.2387G>T (p.Ser796Ile)
c.2561G>T (p.Ser854Ile)
gnomAD v4
7g.41966509C>GCA367320819GLI3c.2564G>C (p.Ser855Thr)
c.2390G>C (p.Ser797Thr)
n.2541G>C
c.2387G>C (p.Ser796Thr)
c.2561G>C (p.Ser854Thr)
7g.41966509C>TCA367320820GLI3c.2564G>A (p.Ser855Asn)
c.2390G>A (p.Ser797Asn)
n.2541G>A
c.2387G>A (p.Ser796Asn)
c.2561G>A (p.Ser854Asn)
COSMIC
7g.41966510T>ACA367320821GLI3c.2563A>T (p.Ser855Cys)
c.2389A>T (p.Ser797Cys)
n.2540A>T
c.2386A>T (p.Ser796Cys)
c.2560A>T (p.Ser854Cys)
7g.41966510T>CCA367320822GLI3c.2563A>G (p.Ser855Gly)
c.2389A>G (p.Ser797Gly)
n.2540A>G
c.2386A>G (p.Ser796Gly)
c.2560A>G (p.Ser854Gly)
7g.41966510T>GCA367320823GLI3c.2563A>C (p.Ser855Arg)
c.2389A>C (p.Ser797Arg)
n.2540A>C
c.2386A>C (p.Ser796Arg)
c.2560A>C (p.Ser854Arg)
7g.41966512_41966514dupCA2578897302GLI3c.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)
7g.41966511G>ACA454662756GLI3c.2562C>T (p.Ile854=)
c.2388C>T (p.Ile796=)
n.2539C>T
c.2385C>T (p.Ile795=)
c.2559C>T (p.Ile853=)
gnomAD v4
7g.41966511G>CCA367320824GLI3c.2562C>G (p.Ile854Met)
c.2388C>G (p.Ile796Met)
n.2539C>G
c.2385C>G (p.Ile795Met)
c.2559C>G (p.Ile853Met)
7g.41966511G>TCA454662757GLI3c.2562C>A (p.Ile854=)
c.2388C>A (p.Ile796=)
n.2539C>A
c.2385C>A (p.Ile795=)
c.2559C>A (p.Ile853=)
gnomAD v4
7g.41966512A>CCA367320825GLI3c.2561T>G (p.Ile854Ser)
c.2387T>G (p.Ile796Ser)
n.2538T>G
c.2384T>G (p.Ile795Ser)
c.2558T>G (p.Ile853Ser)
7g.41966512A>GCA367320826GLI3c.2561T>C (p.Ile854Thr)
c.2387T>C (p.Ile796Thr)
n.2538T>C
c.2384T>C (p.Ile795Thr)
c.2558T>C (p.Ile853Thr)
7g.41966512A>TCA367320827GLI3c.2561T>A (p.Ile854Asn)
c.2387T>A (p.Ile796Asn)
n.2538T>A
c.2384T>A (p.Ile795Asn)
c.2558T>A (p.Ile853Asn)
7g.41966513T>ACA367320828GLI3c.2560A>T (p.Ile854Phe)
c.2386A>T (p.Ile796Phe)
n.2537A>T
c.2383A>T (p.Ile795Phe)
c.2557A>T (p.Ile853Phe)
7g.41966513T>CCA4230571GLI3c.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
7g.41966513T>GCA367320829GLI3c.2560A>C (p.Ile854Leu)
c.2386A>C (p.Ile796Leu)
n.2537A>C
c.2383A>C (p.Ile795Leu)
c.2557A>C (p.Ile853Leu)
7g.41966513T=CA1702661340GLI3c.2560A= (p.Ile854=)
c.2386A= (p.Ile796=)
n.2537A=
c.2383A= (p.Ile795=)
c.2557A= (p.Ile853=)
7g.41966514G>ACA454662763GLI3c.2559C>T (p.Thr853=)
c.2385C>T (p.Thr795=)
n.2536C>T
c.2382C>T (p.Thr794=)
c.2556C>T (p.Thr852=)
7g.41966514G>CCA454662762GLI3c.2559C>G (p.Thr853=)
c.2385C>G (p.Thr795=)
n.2536C>G
c.2382C>G (p.Thr794=)
c.2556C>G (p.Thr852=)
7g.41966514G>TCA454662761GLI3c.2559C>A (p.Thr853=)
c.2385C>A (p.Thr795=)
n.2536C>A
c.2382C>A (p.Thr794=)
c.2556C>A (p.Thr852=)
7g.41966515G>ACA367320830GLI3c.2558C>T (p.Thr853Ile)
c.2384C>T (p.Thr795Ile)
n.2535C>T
c.2381C>T (p.Thr794Ile)
c.2555C>T (p.Thr852Ile)
gnomAD v4
7g.41966515G>CCA367320831GLI3c.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
7g.41966515G=CA1702661341GLI3c.2558C= (p.Thr853=)
c.2384C= (p.Thr795=)
n.2535C=
c.2381C= (p.Thr794=)
c.2555C= (p.Thr852=)
7g.41966515G>TCA367320832GLI3c.2558C>A (p.Thr853Asn)
c.2384C>A (p.Thr795Asn)
n.2535C>A
c.2381C>A (p.Thr794Asn)
c.2555C>A (p.Thr852Asn)
7g.41966516T>ACA367320833GLI3c.2557A>T (p.Thr853Ser)
c.2383A>T (p.Thr795Ser)
n.2534A>T
c.2380A>T (p.Thr794Ser)
c.2554A>T (p.Thr852Ser)
7g.41966516T>CCA367320834GLI3c.2557A>G (p.Thr853Ala)
c.2383A>G (p.Thr795Ala)
n.2534A>G
c.2380A>G (p.Thr794Ala)
c.2554A>G (p.Thr852Ala)
7g.41966516T>GCA367320835GLI3c.2557A>C (p.Thr853Pro)
c.2383A>C (p.Thr795Pro)
n.2534A>C
c.2380A>C (p.Thr794Pro)
c.2554A>C (p.Thr852Pro)
7g.41966517G>ACA454662767GLI3c.2556C>T (p.Ser852=)
c.2382C>T (p.Ser794=)
n.2533C>T
c.2379C>T (p.Ser793=)
c.2553C>T (p.Ser851=)
7g.41966517G>CCA367320836GLI3c.2556C>G (p.Ser852Arg)
c.2382C>G (p.Ser794Arg)
n.2533C>G
c.2379C>G (p.Ser793Arg)
c.2553C>G (p.Ser851Arg)
7g.41966517G>TCA367320837GLI3c.2556C>A (p.Ser852Arg)
c.2382C>A (p.Ser794Arg)
n.2533C>A
c.2379C>A (p.Ser793Arg)
c.2553C>A (p.Ser851Arg)
7g.41966518C>ACA367320838GLI3c.2555G>T (p.Ser852Ile)
c.2381G>T (p.Ser794Ile)
n.2532G>T
c.2378G>T (p.Ser793Ile)
c.2552G>T (p.Ser851Ile)
7g.41966518C>GCA367320839GLI3c.2555G>C (p.Ser852Thr)
c.2381G>C (p.Ser794Thr)
n.2532G>C
c.2378G>C (p.Ser793Thr)
c.2552G>C (p.Ser851Thr)
7g.41966518C>TCA367320840GLI3c.2555G>A (p.Ser852Asn)
c.2381G>A (p.Ser794Asn)
n.2532G>A
c.2378G>A (p.Ser793Asn)
c.2552G>A (p.Ser851Asn)
7g.41966519T>ACA367320842GLI3c.2554A>T (p.Ser852Cys)
c.2380A>T (p.Ser794Cys)
n.2531A>T
c.2377A>T (p.Ser793Cys)
c.2551A>T (p.Ser851Cys)
7g.41966519T>CCA367320843GLI3c.2554A>G (p.Ser852Gly)
c.2380A>G (p.Ser794Gly)
n.2531A>G
c.2377A>G (p.Ser793Gly)
c.2551A>G (p.Ser851Gly)
7g.41966519T>GCA367320841GLI3c.2554A>C (p.Ser852Arg)
c.2380A>C (p.Ser794Arg)
n.2531A>C
c.2377A>C (p.Ser793Arg)
c.2551A>C (p.Ser851Arg)
7g.41966520G>ACA454662768GLI3c.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
7g.41966520G>CCA454662771GLI3c.2553C>G (p.Ala851=)
c.2379C>G (p.Ala793=)
n.2530C>G
c.2376C>G (p.Ala792=)
c.2550C>G (p.Ala850=)
7g.41966520G=CA1702661342GLI3c.2553C= (p.Ala851=)
c.2379C= (p.Ala793=)
n.2530C=
c.2376C= (p.Ala792=)
c.2550C= (p.Ala850=)
7g.41966520G>TCA454662770GLI3c.2553C>A (p.Ala851=)
c.2379C>A (p.Ala793=)
n.2530C>A
c.2376C>A (p.Ala792=)
c.2550C>A (p.Ala850=)
7g.41966521G>ACA367320846GLI3c.2552C>T (p.Ala851Val)
c.2378C>T (p.Ala793Val)
n.2529C>T
c.2375C>T (p.Ala792Val)
c.2549C>T (p.Ala850Val)
gnomAD v4
7g.41966521G>CCA367320844GLI3c.2552C>G (p.Ala851Gly)
c.2378C>G (p.Ala793Gly)
n.2529C>G
c.2375C>G (p.Ala792Gly)
c.2549C>G (p.Ala850Gly)
7g.41966521G>TCA367320845GLI3c.2552C>A (p.Ala851Asp)
c.2378C>A (p.Ala793Asp)
n.2529C>A
c.2375C>A (p.Ala792Asp)
c.2549C>A (p.Ala850Asp)
COSMIC
7g.41966522C>ACA367320847GLI3c.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
7g.41966522C=CA1702661343GLI3c.2551G= (p.Ala851=)
c.2377G= (p.Ala793=)
n.2528G=
c.2374G= (p.Ala792=)
c.2548G= (p.Ala850=)
7g.41966522C>GCA367320848GLI3c.2551G>C (p.Ala851Pro)
c.2377G>C (p.Ala793Pro)
n.2528G>C
c.2374G>C (p.Ala792Pro)
c.2548G>C (p.Ala850Pro)
7g.41966522C>TCA4230572GLI3c.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
7g.41966523G>ACA454662772GLI3c.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
7g.41966523G>CCA367320849GLI3c.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
7g.41966523G=CA1702661344GLI3c.2550C= (p.Ser850=)
c.2376C= (p.Ser792=)
n.2527C=
c.2373C= (p.Ser791=)
c.2547C= (p.Ser849=)
7g.41966523G>TCA367320850GLI3c.2550C>A (p.Ser850Arg)
c.2376C>A (p.Ser792Arg)
n.2527C>A
c.2373C>A (p.Ser791Arg)
c.2547C>A (p.Ser849Arg)
7g.41966524C>ACA367320851GLI3c.2549G>T (p.Ser850Ile)
c.2375G>T (p.Ser792Ile)
n.2526G>T
c.2372G>T (p.Ser791Ile)
c.2546G>T (p.Ser849Ile)
7g.41966524C>GCA367320852GLI3c.2549G>C (p.Ser850Thr)
c.2375G>C (p.Ser792Thr)
n.2526G>C
c.2372G>C (p.Ser791Thr)
c.2546G>C (p.Ser849Thr)
7g.41966524C>TCA367320853GLI3c.2549G>A (p.Ser850Asn)
c.2375G>A (p.Ser792Asn)
n.2526G>A
c.2372G>A (p.Ser791Asn)
c.2546G>A (p.Ser849Asn)
7g.41966525T>ACA367320854GLI3c.2548A>T (p.Ser850Cys)
c.2374A>T (p.Ser792Cys)
n.2525A>T
c.2371A>T (p.Ser791Cys)
c.2545A>T (p.Ser849Cys)
7g.41966525T>CCA367320855GLI3c.2548A>G (p.Ser850Gly)
c.2374A>G (p.Ser792Gly)
n.2525A>G
c.2371A>G (p.Ser791Gly)
c.2545A>G (p.Ser849Gly)
7g.41966525T>GCA367320856GLI3c.2548A>C (p.Ser850Arg)
c.2374A>C (p.Ser792Arg)
n.2525A>C
c.2371A>C (p.Ser791Arg)
c.2545A>C (p.Ser849Arg)
7g.41966526G>ACA454662775GLI3c.2547C>T (p.Ser849=)
c.2373C>T (p.Ser791=)
n.2524C>T
c.2370C>T (p.Ser790=)
c.2544C>T (p.Ser848=)
7g.41966526G>CCA367320858GLI3c.2547C>G (p.Ser849Arg)
c.2373C>G (p.Ser791Arg)
n.2524C>G
c.2370C>G (p.Ser790Arg)
c.2544C>G (p.Ser848Arg)
7g.41966526G>TCA367320857GLI3c.2547C>A (p.Ser849Arg)
c.2373C>A (p.Ser791Arg)
n.2524C>A
c.2370C>A (p.Ser790Arg)
c.2544C>A (p.Ser848Arg)
7g.41966527C>ACA156907607GLI3c.2546G>T (p.Ser849Ile)
c.2372G>T (p.Ser791Ile)
n.2523G>T
c.2369G>T (p.Ser790Ile)
c.2543G>T (p.Ser848Ile)
dbSNP
7g.41966527C=CA1702661345GLI3c.2546G= (p.Ser849=)
c.2372G= (p.Ser791=)
n.2523G=
c.2369G= (p.Ser790=)
c.2543G= (p.Ser848=)
7g.41966527C>GCA367320859GLI3c.2546G>C (p.Ser849Thr)
c.2372G>C (p.Ser791Thr)
n.2523G>C
c.2369G>C (p.Ser790Thr)
c.2543G>C (p.Ser848Thr)
7g.41966527C>TCA367320860GLI3c.2546G>A (p.Ser849Asn)
c.2372G>A (p.Ser791Asn)
n.2523G>A
c.2369G>A (p.Ser790Asn)
c.2543G>A (p.Ser848Asn)
7g.41966528T>ACA367320861GLI3c.2545A>T (p.Ser849Cys)
c.2371A>T (p.Ser791Cys)
n.2522A>T
c.2368A>T (p.Ser790Cys)
c.2542A>T (p.Ser848Cys)
7g.41966528T>CCA367320862GLI3c.2545A>G (p.Ser849Gly)
c.2371A>G (p.Ser791Gly)
n.2522A>G
c.2368A>G (p.Ser790Gly)
c.2542A>G (p.Ser848Gly)
dbSNP
7g.41966528T>GCA367320863GLI3c.2545A>C (p.Ser849Arg)
c.2371A>C (p.Ser791Arg)
n.2522A>C
c.2368A>C (p.Ser790Arg)
c.2542A>C (p.Ser848Arg)
7g.41966528T=CA1702661346GLI3c.2545A= (p.Ser849=)
c.2371A= (p.Ser791=)
n.2522A=
c.2368A= (p.Ser790=)
c.2542A= (p.Ser848=)
7g.41966529G>ACA454662780GLI3c.2544C>T (p.Asp848=)
c.2370C>T (p.Asp790=)
n.2521C>T
c.2367C>T (p.Asp789=)
c.2541C>T (p.Asp847=)
7g.41966529G>CCA367320864GLI3c.2544C>G (p.Asp848Glu)
c.2370C>G (p.Asp790Glu)
n.2521C>G
c.2367C>G (p.Asp789Glu)
c.2541C>G (p.Asp847Glu)
7g.41966529G>TCA367320865GLI3c.2544C>A (p.Asp848Glu)
c.2370C>A (p.Asp790Glu)
n.2521C>A
c.2367C>A (p.Asp789Glu)
c.2541C>A (p.Asp847Glu)
7g.41966530T>ACA367320866GLI3c.2543A>T (p.Asp848Val)
c.2369A>T (p.Asp790Val)
n.2520A>T
c.2366A>T (p.Asp789Val)
c.2540A>T (p.Asp847Val)
gnomAD v4
7g.41966530T>CCA367320867GLI3c.2543A>G (p.Asp848Gly)
c.2369A>G (p.Asp790Gly)
n.2520A>G
c.2366A>G (p.Asp789Gly)
c.2540A>G (p.Asp847Gly)
7g.41966530T>GCA367320868GLI3c.2543A>C (p.Asp848Ala)
c.2369A>C (p.Asp790Ala)
n.2520A>C
c.2366A>C (p.Asp789Ala)
c.2540A>C (p.Asp847Ala)
7g.41966531C>ACA367320869GLI3c.2542G>T (p.Asp848Tyr)
c.2368G>T (p.Asp790Tyr)
n.2519G>T
c.2365G>T (p.Asp789Tyr)
c.2539G>T (p.Asp847Tyr)
7g.41966531C>GCA367320870GLI3c.2542G>C (p.Asp848His)
c.2368G>C (p.Asp790His)
n.2519G>C
c.2365G>C (p.Asp789His)
c.2539G>C (p.Asp847His)
7g.41966531C>TCA367320871GLI3c.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
7g.41966533delCA2695207666GLI3c.2542del (p.Asp848ThrfsTer12)
c.2368del (p.Asp790ThrfsTer12)
n.2519del
c.2365del (p.Asp789ThrfsTer12)
c.2539del (p.Asp847ThrfsTer12)
7g.41966532C>ACA367320872GLI3c.2541G>T (p.Arg847Ser)
c.2367G>T (p.Arg789Ser)
n.2518G>T
c.2364G>T (p.Arg788Ser)
c.2538G>T (p.Arg846Ser)
7g.41966532C>GCA367320873GLI3c.2541G>C (p.Arg847Ser)
c.2367G>C (p.Arg789Ser)
n.2518G>C
c.2364G>C (p.Arg788Ser)
c.2538G>C (p.Arg846Ser)
7g.41966532C>TCA454662784GLI3c.2541G>A (p.Arg847=)
c.2367G>A (p.Arg789=)
n.2518G>A
c.2364G>A (p.Arg788=)
c.2538G>A (p.Arg846=)
7g.41966533C>ACA367320874GLI3c.2540G>T (p.Arg847Met)
c.2366G>T (p.Arg789Met)
n.2517G>T
c.2363G>T (p.Arg788Met)
c.2537G>T (p.Arg846Met)
7g.41966533C=CA1702661347GLI3c.2540G= (p.Arg847=)
c.2366G= (p.Arg789=)
n.2517G=
c.2363G= (p.Arg788=)
c.2537G= (p.Arg846=)
7g.41966533C>GCA367320875GLI3c.2540G>C (p.Arg847Thr)
c.2366G>C (p.Arg789Thr)
n.2517G>C
c.2363G>C (p.Arg788Thr)
c.2537G>C (p.Arg846Thr)
7g.41966533C>TCA4230573GLI3c.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
7g.41966534T>ACA367320876GLI3c.2539A>T (p.Arg847Trp)
c.2365A>T (p.Arg789Trp)
n.2516A>T
c.2362A>T (p.Arg788Trp)
c.2536A>T (p.Arg846Trp)
7g.41966534T>CCA367320877GLI3c.2539A>G (p.Arg847Gly)
c.2365A>G (p.Arg789Gly)
n.2516A>G
c.2362A>G (p.Arg788Gly)
c.2536A>G (p.Arg846Gly)
7g.41966534T>GCA454662788GLI3c.2539A>C (p.Arg847=)
c.2365A>C (p.Arg789=)
n.2516A>C
c.2362A>C (p.Arg788=)
c.2536A>C (p.Arg846=)
7g.41966535T>ACA367320878GLI3c.2538A>T (p.Arg846Ser)
c.2364A>T (p.Arg788Ser)
n.2515A>T
c.2361A>T (p.Arg787Ser)
c.2535A>T (p.Arg845Ser)
7g.41966535T>CCA454662789GLI3c.2538A>G (p.Arg846=)
c.2364A>G (p.Arg788=)
n.2515A>G
c.2361A>G (p.Arg787=)
c.2535A>G (p.Arg845=)
7g.41966535T>GCA367320879GLI3c.2538A>C (p.Arg846Ser)
c.2364A>C (p.Arg788Ser)
n.2515A>C
c.2361A>C (p.Arg787Ser)
c.2535A>C (p.Arg845Ser)
7g.41966536C>ACA367320880GLI3c.2537G>T (p.Arg846Ile)
c.2363G>T (p.Arg788Ile)
n.2514G>T
c.2360G>T (p.Arg787Ile)
c.2534G>T (p.Arg845Ile)
7g.41966536C>GCA367320881GLI3c.2537G>C (p.Arg846Thr)
c.2363G>C (p.Arg788Thr)
n.2514G>C
c.2360G>C (p.Arg787Thr)
c.2534G>C (p.Arg845Thr)
7g.41966536C>TCA367320882GLI3c.2537G>A (p.Arg846Lys)
c.2363G>A (p.Arg788Lys)
n.2514G>A
c.2360G>A (p.Arg787Lys)
c.2534G>A (p.Arg845Lys)
7g.41966537T>ACA367320883GLI3c.2536A>T (p.Arg846Ter)
c.2362A>T (p.Arg788Ter)
n.2513A>T
c.2359A>T (p.Arg787Ter)
c.2533A>T (p.Arg845Ter)
7g.41966537T>CCA367320884GLI3c.2536A>G (p.Arg846Gly)
c.2362A>G (p.Arg788Gly)
n.2513A>G
c.2359A>G (p.Arg787Gly)
c.2533A>G (p.Arg845Gly)
7g.41966537T>GCA454662792GLI3c.2536A>C (p.Arg846=)
c.2362A>C (p.Arg788=)
n.2513A>C
c.2359A>C (p.Arg787=)
c.2533A>C (p.Arg845=)
7g.41966538G>ACA454662794GLI3c.2535C>T (p.Asn845=)
c.2361C>T (p.Asn787=)
n.2512C>T
c.2358C>T (p.Asn786=)
c.2532C>T (p.Asn844=)
7g.41966538G>CCA367320885GLI3c.2535C>G (p.Asn845Lys)
c.2361C>G (p.Asn787Lys)
n.2512C>G
c.2358C>G (p.Asn786Lys)
c.2532C>G (p.Asn844Lys)
7g.41966538G>TCA367320886GLI3c.2535C>A (p.Asn845Lys)
c.2361C>A (p.Asn787Lys)
n.2512C>A
c.2358C>A (p.Asn786Lys)
c.2532C>A (p.Asn844Lys)
7g.41966539T>ACA367320889GLI3c.2534A>T (p.Asn845Ile)
c.2360A>T (p.Asn787Ile)
n.2511A>T
c.2357A>T (p.Asn786Ile)
c.2531A>T (p.Asn844Ile)
7g.41966539T>CCA367320888GLI3c.2534A>G (p.Asn845Ser)
c.2360A>G (p.Asn787Ser)
n.2511A>G
c.2357A>G (p.Asn786Ser)
c.2531A>G (p.Asn844Ser)
7g.41966539T>GCA367320887GLI3c.2534A>C (p.Asn845Thr)
c.2360A>C (p.Asn787Thr)
n.2511A>C
c.2357A>C (p.Asn786Thr)
c.2531A>C (p.Asn844Thr)
7g.41966540delCA2682510326GLI3c.2534del (p.Asn845ThrfsTer15)
c.2360del (p.Asn787ThrfsTer15)
n.2511del
c.2357del (p.Asn786ThrfsTer15)
c.2531del (p.Asn844ThrfsTer15)
gnomAD v4
7g.41966540T>ACA367320890GLI3c.2533A>T (p.Asn845Tyr)
c.2359A>T (p.Asn787Tyr)
n.2510A>T
c.2356A>T (p.Asn786Tyr)
c.2530A>T (p.Asn844Tyr)
7g.41966540T>CCA367320891GLI3c.2533A>G (p.Asn845Asp)
c.2359A>G (p.Asn787Asp)
n.2510A>G
c.2356A>G (p.Asn786Asp)
c.2530A>G (p.Asn844Asp)
7g.41966540T>GCA367320892GLI3c.2533A>C (p.Asn845His)
c.2359A>C (p.Asn787His)
n.2510A>C
c.2356A>C (p.Asn786His)
c.2530A>C (p.Asn844His)
7g.41966541G>ACA454662797GLI3c.2532C>T (p.Leu844=)
c.2358C>T (p.Leu786=)
n.2509C>T
c.2355C>T (p.Leu785=)
c.2529C>T (p.Leu843=)
gnomAD v4
7g.41966541G>CCA454662799GLI3c.2532C>G (p.Leu844=)
c.2358C>G (p.Leu786=)
n.2509C>G
c.2355C>G (p.Leu785=)
c.2529C>G (p.Leu843=)
7g.41966541G>TCA454662798GLI3c.2532C>A (p.Leu844=)
c.2358C>A (p.Leu786=)
n.2509C>A
c.2355C>A (p.Leu785=)
c.2529C>A (p.Leu843=)
7g.41966542A>CCA367320893GLI3c.2531T>G (p.Leu844Arg)
c.2357T>G (p.Leu786Arg)
n.2508T>G
c.2354T>G (p.Leu785Arg)
c.2528T>G (p.Leu843Arg)
7g.41966542A>GCA367320894GLI3c.2531T>C (p.Leu844Pro)
c.2357T>C (p.Leu786Pro)
n.2508T>C
c.2354T>C (p.Leu785Pro)
c.2528T>C (p.Leu843Pro)
7g.41966542A>TCA367320895GLI3c.2531T>A (p.Leu844His)
c.2357T>A (p.Leu786His)
n.2508T>A
c.2354T>A (p.Leu785His)
c.2528T>A (p.Leu843His)
gnomAD v4
7g.41966543G>ACA367320896GLI3c.2530C>T (p.Leu844Phe)
c.2356C>T (p.Leu786Phe)
n.2507C>T
c.2353C>T (p.Leu785Phe)
c.2527C>T (p.Leu843Phe)
7g.41966543G>CCA367320897GLI3c.2530C>G (p.Leu844Val)
c.2356C>G (p.Leu786Val)
n.2507C>G
c.2353C>G (p.Leu785Val)
c.2527C>G (p.Leu843Val)
7g.41966543G>TCA367320898GLI3c.2530C>A (p.Leu844Ile)
c.2356C>A (p.Leu786Ile)
n.2507C>A
c.2353C>A (p.Leu785Ile)
c.2527C>A (p.Leu843Ile)
7g.41966544C>ACA367320899GLI3c.2529G>T (p.Met843Ile)
c.2355G>T (p.Met785Ile)
n.2506G>T
c.2352G>T (p.Met784Ile)
c.2526G>T (p.Met842Ile)
7g.41966544C>GCA367320900GLI3c.2529G>C (p.Met843Ile)
c.2355G>C (p.Met785Ile)
n.2506G>C
c.2352G>C (p.Met784Ile)
c.2526G>C (p.Met842Ile)
7g.41966544C>TCA367320901GLI3c.2529G>A (p.Met843Ile)
c.2355G>A (p.Met785Ile)
n.2506G>A
c.2352G>A (p.Met784Ile)
c.2526G>A (p.Met842Ile)
gnomAD v4
7g.41966545A>CCA367320902GLI3c.2528T>G (p.Met843Arg)
c.2354T>G (p.Met785Arg)
n.2505T>G
c.2351T>G (p.Met784Arg)
c.2525T>G (p.Met842Arg)
gnomAD v4
7g.41966545A>GCA367320904GLI3c.2528T>C (p.Met843Thr)
c.2354T>C (p.Met785Thr)
n.2505T>C
c.2351T>C (p.Met784Thr)
c.2525T>C (p.Met842Thr)
7g.41966545A>TCA367320903GLI3c.2528T>A (p.Met843Lys)
c.2354T>A (p.Met785Lys)
n.2505T>A
c.2351T>A (p.Met784Lys)
c.2525T>A (p.Met842Lys)
7g.41966546T>ACA367320905GLI3c.2527A>T (p.Met843Leu)
c.2353A>T (p.Met785Leu)
n.2504A>T
c.2350A>T (p.Met784Leu)
c.2524A>T (p.Met842Leu)
7g.41966546T>CCA367320907GLI3c.2527A>G (p.Met843Val)
c.2353A>G (p.Met785Val)
n.2504A>G
c.2350A>G (p.Met784Val)
c.2524A>G (p.Met842Val)
7g.41966546T>GCA367320906GLI3c.2527A>C (p.Met843Leu)
c.2353A>C (p.Met785Leu)
n.2504A>C
c.2350A>C (p.Met784Leu)
c.2524A>C (p.Met842Leu)
7g.41966547G>ACA454662801GLI3c.2526C>T (p.Asn842=)
c.2352C>T (p.Asn784=)
n.2503C>T
c.2349C>T (p.Asn783=)
c.2523C>T (p.Asn841=)
7g.41966547G>CCA367320908GLI3c.2526C>G (p.Asn842Lys)
c.2352C>G (p.Asn784Lys)
n.2503C>G
c.2349C>G (p.Asn783Lys)
c.2523C>G (p.Asn841Lys)
7g.41966547G>TCA367320909GLI3c.2526C>A (p.Asn842Lys)
c.2352C>A (p.Asn784Lys)
n.2503C>A
c.2349C>A (p.Asn783Lys)
c.2523C>A (p.Asn841Lys)
7g.41966548T>ACA367320910GLI3c.2525A>T (p.Asn842Ile)
c.2351A>T (p.Asn784Ile)
n.2502A>T
c.2348A>T (p.Asn783Ile)
c.2522A>T (p.Asn841Ile)
7g.41966548T>CCA367320912GLI3c.2525A>G (p.Asn842Ser)
c.2351A>G (p.Asn784Ser)
n.2502A>G
c.2348A>G (p.Asn783Ser)
c.2522A>G (p.Asn841Ser)
7g.41966548T>GCA367320911GLI3c.2525A>C (p.Asn842Thr)
c.2351A>C (p.Asn784Thr)
n.2502A>C
c.2348A>C (p.Asn783Thr)
c.2522A>C (p.Asn841Thr)
7g.41966549T>ACA367320913GLI3c.2524A>T (p.Asn842Tyr)
c.2350A>T (p.Asn784Tyr)
n.2501A>T
c.2347A>T (p.Asn783Tyr)
c.2521A>T (p.Asn841Tyr)
7g.41966549T>CCA367320915GLI3c.2524A>G (p.Asn842Asp)
c.2350A>G (p.Asn784Asp)
n.2501A>G
c.2347A>G (p.Asn783Asp)
c.2521A>G (p.Asn841Asp)
gnomAD v4
7g.41966549T>GCA367320914GLI3c.2524A>C (p.Asn842His)
c.2350A>C (p.Asn784His)
n.2501A>C
c.2347A>C (p.Asn783His)
c.2521A>C (p.Asn841His)
7g.41966550C>ACA454662803GLI3c.2523G>T (p.Leu841=)
c.2349G>T (p.Leu783=)
n.2500G>T
c.2346G>T (p.Leu782=)
c.2520G>T (p.Leu840=)
7g.41966550C>GCA454662805GLI3c.2523G>C (p.Leu841=)
c.2349G>C (p.Leu783=)
n.2500G>C
c.2346G>C (p.Leu782=)
c.2520G>C (p.Leu840=)
7g.41966550C>TCA454662807GLI3c.2523G>A (p.Leu841=)
c.2349G>A (p.Leu783=)
n.2500G>A
c.2346G>A (p.Leu782=)
c.2520G>A (p.Leu840=)
gnomAD v4
7g.41966551A>CCA367320916GLI3c.2522T>G (p.Leu841Arg)
c.2348T>G (p.Leu783Arg)
n.2499T>G
c.2345T>G (p.Leu782Arg)
c.2519T>G (p.Leu840Arg)
7g.41966551A>GCA367320917GLI3c.2522T>C (p.Leu841Pro)
c.2348T>C (p.Leu783Pro)
n.2499T>C
c.2345T>C (p.Leu782Pro)
c.2519T>C (p.Leu840Pro)
7g.41966551A>TCA367320918GLI3c.2522T>A (p.Leu841Gln)
c.2348T>A (p.Leu783Gln)
n.2499T>A
c.2345T>A (p.Leu782Gln)
c.2519T>A (p.Leu840Gln)
7g.41966552G>ACA454662809GLI3c.2521C>T (p.Leu841=)
c.2347C>T (p.Leu783=)
n.2498C>T
c.2344C>T (p.Leu782=)
c.2518C>T (p.Leu840=)
dbSNP
7g.41966552G>CCA367320919GLI3c.2521C>G (p.Leu841Val)
c.2347C>G (p.Leu783Val)
n.2498C>G
c.2344C>G (p.Leu782Val)
c.2518C>G (p.Leu840Val)
7g.41966552G=CA1702661348GLI3c.2521C= (p.Leu841=)
c.2347C= (p.Leu783=)
n.2498C=
c.2344C= (p.Leu782=)
c.2518C= (p.Leu840=)
7g.41966552G>TCA367320920GLI3c.2521C>A (p.Leu841Met)
c.2347C>A (p.Leu783Met)
n.2498C>A
c.2344C>A (p.Leu782Met)
c.2518C>A (p.Leu840Met)
7g.41966553C>ACA367320923GLI3c.2520G>T (p.Met840Ile)
c.2346G>T (p.Met782Ile)
n.2497G>T
c.2343G>T (p.Met781Ile)
c.2517G>T (p.Met839Ile)
7g.41966553C=CA1702661349GLI3c.2520G= (p.Met840=)
c.2346G= (p.Met782=)
n.2497G=
c.2343G= (p.Met781=)
c.2517G= (p.Met839=)
7g.41966553C>GCA367320922GLI3c.2520G>C (p.Met840Ile)
c.2346G>C (p.Met782Ile)
n.2497G>C
c.2343G>C (p.Met781Ile)
c.2517G>C (p.Met839Ile)
7g.41966553C>TCA367320921GLI3c.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
7g.41966554A>CCA367320924GLI3c.2519T>G (p.Met840Arg)
c.2345T>G (p.Met782Arg)
n.2496T>G
c.2342T>G (p.Met781Arg)
c.2516T>G (p.Met839Arg)
7g.41966554A>GCA367320925GLI3c.2519T>C (p.Met840Thr)
c.2345T>C (p.Met782Thr)
n.2496T>C
c.2342T>C (p.Met781Thr)
c.2516T>C (p.Met839Thr)
COSMIC
7g.41966554A>TCA367320926GLI3c.2519T>A (p.Met840Lys)
c.2345T>A (p.Met782Lys)
n.2496T>A
c.2342T>A (p.Met781Lys)
c.2516T>A (p.Met839Lys)
7g.41966555T>ACA367320927GLI3c.2518A>T (p.Met840Leu)
c.2344A>T (p.Met782Leu)
n.2495A>T
c.2341A>T (p.Met781Leu)
c.2515A>T (p.Met839Leu)
7g.41966555T>CCA367320928GLI3c.2518A>G (p.Met840Val)
c.2344A>G (p.Met782Val)
n.2495A>G
c.2341A>G (p.Met781Val)
c.2515A>G (p.Met839Val)
gnomAD v4
7g.41966555T>GCA367320929GLI3c.2518A>C (p.Met840Leu)
c.2344A>C (p.Met782Leu)
n.2495A>C
c.2341A>C (p.Met781Leu)
c.2515A>C (p.Met839Leu)
7g.41966556A>CCA454662811GLI3c.2517T>G (p.Thr839=)
c.2343T>G (p.Thr781=)
n.2494T>G
c.2340T>G (p.Thr780=)
c.2514T>G (p.Thr838=)
7g.41966556A>GCA454662812GLI3c.2517T>C (p.Thr839=)
c.2343T>C (p.Thr781=)
n.2494T>C
c.2340T>C (p.Thr780=)
c.2514T>C (p.Thr838=)
7g.41966556A>TCA454662813GLI3c.2517T>A (p.Thr839=)
c.2343T>A (p.Thr781=)
n.2494T>A
c.2340T>A (p.Thr780=)
c.2514T>A (p.Thr838=)
gnomAD v4
7g.41966557G>ACA367320930GLI3c.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
7g.41966557G>CCA367320932GLI3c.2516C>G (p.Thr839Ser)
c.2342C>G (p.Thr781Ser)
n.2493C>G
c.2339C>G (p.Thr780Ser)
c.2513C>G (p.Thr838Ser)
7g.41966557G=CA1702661350GLI3c.2516C= (p.Thr839=)
c.2342C= (p.Thr781=)
n.2493C=
c.2339C= (p.Thr780=)
c.2513C= (p.Thr838=)
7g.41966557G>TCA367320931GLI3c.2516C>A (p.Thr839Asn)
c.2342C>A (p.Thr781Asn)
n.2493C>A
c.2339C>A (p.Thr780Asn)
c.2513C>A (p.Thr838Asn)
7g.41966558T>ACA367320933GLI3c.2515A>T (p.Thr839Ser)
c.2341A>T (p.Thr781Ser)
n.2492A>T
c.2338A>T (p.Thr780Ser)
c.2512A>T (p.Thr838Ser)
7g.41966558T>CCA156907618GLI3c.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
7g.41966558T>GCA367320934GLI3c.2515A>C (p.Thr839Pro)
c.2341A>C (p.Thr781Pro)
n.2492A>C
c.2338A>C (p.Thr780Pro)
c.2512A>C (p.Thr838Pro)
7g.41966558T=CA1702661351GLI3c.2515A= (p.Thr839=)
c.2341A= (p.Thr781=)
n.2492A=
c.2338A= (p.Thr780=)
c.2512A= (p.Thr838=)
7g.41966559G>ACA454662817GLI3c.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
7g.41966559G>CCA454662818GLI3c.2514C>G (p.Val838=)
c.2340C>G (p.Val780=)
n.2491C>G
c.2337C>G (p.Val779=)
c.2511C>G (p.Val837=)
7g.41966559G=CA1702661352GLI3c.2514C= (p.Val838=)
c.2340C= (p.Val780=)
n.2491C=
c.2337C= (p.Val779=)
c.2511C= (p.Val837=)
7g.41966559G>TCA454662819GLI3c.2514C>A (p.Val838=)
c.2340C>A (p.Val780=)
n.2491C>A
c.2337C>A (p.Val779=)
c.2511C>A (p.Val837=)
7g.41966560A>CCA367320935GLI3c.2513T>G (p.Val838Gly)
c.2339T>G (p.Val780Gly)
n.2490T>G
c.2336T>G (p.Val779Gly)
c.2510T>G (p.Val837Gly)
7g.41966560A>GCA367320936GLI3c.2513T>C (p.Val838Ala)
c.2339T>C (p.Val780Ala)
n.2490T>C
c.2336T>C (p.Val779Ala)
c.2510T>C (p.Val837Ala)
7g.41966560A>TCA367320937GLI3c.2513T>A (p.Val838Asp)
c.2339T>A (p.Val780Asp)
n.2490T>A
c.2336T>A (p.Val779Asp)
c.2510T>A (p.Val837Asp)

Number of alleles fetched