| 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.41966454del | CA342934 | GLI3 | c.2620del (p.Arg874AlafsTer16) c.2446del (p.Arg816AlafsTer16) n.2597del c.2443del (p.Arg815AlafsTer16) c.2617del (p.Arg873AlafsTer16) | dbSNP |
| 7 | g.41966454G>A | CA454662695 | GLI3 | c.2619C>T (p.Ser873=) c.2445C>T (p.Ser815=) n.2596C>T c.2442C>T (p.Ser814=) c.2616C>T (p.Ser872=) | gnomAD v4 |
| 7 | g.41966454G>C | CA367320700 | GLI3 | c.2619C>G (p.Ser873Arg) c.2445C>G (p.Ser815Arg) n.2596C>G c.2442C>G (p.Ser814Arg) c.2616C>G (p.Ser872Arg) | |
| 7 | g.41966454G= | CA1702661315 | GLI3 | c.2619C= (p.Ser873=) c.2445C= (p.Ser815=) n.2596C= c.2442C= (p.Ser814=) c.2616C= (p.Ser872=) | |
| 7 | g.41966454G>T | CA4230562 | GLI3 | c.2619C>A (p.Ser873Arg) c.2445C>A (p.Ser815Arg) n.2596C>A c.2442C>A (p.Ser814Arg) c.2616C>A (p.Ser872Arg) | dbSNP ExAC gnomAD v2 COSMIC |
| 7 | g.41966455C>A | CA367320701 | GLI3 | c.2618G>T (p.Ser873Ile) c.2444G>T (p.Ser815Ile) n.2595G>T c.2441G>T (p.Ser814Ile) c.2615G>T (p.Ser872Ile) | gnomAD v4 |
| 7 | g.41966455C= | CA1702661316 | GLI3 | c.2618G= (p.Ser873=) c.2444G= (p.Ser815=) n.2595G= c.2441G= (p.Ser814=) c.2615G= (p.Ser872=) | |
| 7 | g.41966455C>G | CA367320702 | GLI3 | c.2618G>C (p.Ser873Thr) c.2444G>C (p.Ser815Thr) n.2595G>C c.2441G>C (p.Ser814Thr) c.2615G>C (p.Ser872Thr) | dbSNP |
| 7 | g.41966455C>T | CA4230563 | GLI3 | c.2618G>A (p.Ser873Asn) c.2444G>A (p.Ser815Asn) n.2595G>A c.2441G>A (p.Ser814Asn) c.2615G>A (p.Ser872Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966455_41966456del | CA645566068 | GLI3 | c.2617_2618del (p.Ser873ProfsTer?) c.2443_2444del (p.Ser815ProfsTer?) n.2594_2595del c.2440_2441del (p.Ser814ProfsTer?) c.2614_2615del (p.Ser872ProfsTer?) | COSMIC |
| 7 | g.41966456T>A | CA367320703 | GLI3 | c.2617A>T (p.Ser873Cys) c.2443A>T (p.Ser815Cys) n.2594A>T c.2440A>T (p.Ser814Cys) c.2614A>T (p.Ser872Cys) | |
| 7 | g.41966456T>C | CA367320704 | GLI3 | c.2617A>G (p.Ser873Gly) c.2443A>G (p.Ser815Gly) n.2594A>G c.2440A>G (p.Ser814Gly) c.2614A>G (p.Ser872Gly) | |
| 7 | g.41966456T>G | CA367320705 | GLI3 | c.2617A>C (p.Ser873Arg) c.2443A>C (p.Ser815Arg) n.2594A>C c.2440A>C (p.Ser814Arg) c.2614A>C (p.Ser872Arg) | |
| 7 | g.41966457G>A | CA454662696 | GLI3 | c.2616C>T (p.Ser872=) c.2442C>T (p.Ser814=) n.2593C>T c.2439C>T (p.Ser813=) c.2613C>T (p.Ser871=) | gnomAD v4 |
| 7 | g.41966457G>C | CA454662697 | GLI3 | c.2616C>G (p.Ser872=) c.2442C>G (p.Ser814=) n.2593C>G c.2439C>G (p.Ser813=) c.2613C>G (p.Ser871=) | |
| 7 | g.41966457G>T | CA454662698 | GLI3 | c.2616C>A (p.Ser872=) c.2442C>A (p.Ser814=) n.2593C>A c.2439C>A (p.Ser813=) c.2613C>A (p.Ser871=) | |
| 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.41966458G>A | CA367320706 | GLI3 | c.2615C>T (p.Ser872Phe) c.2441C>T (p.Ser814Phe) n.2592C>T c.2438C>T (p.Ser813Phe) c.2612C>T (p.Ser871Phe) | |
| 7 | g.41966458G>C | CA367320707 | GLI3 | c.2615C>G (p.Ser872Cys) c.2441C>G (p.Ser814Cys) n.2592C>G c.2438C>G (p.Ser813Cys) c.2612C>G (p.Ser871Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966458G= | CA1702661317 | GLI3 | c.2615C= (p.Ser872=) c.2441C= (p.Ser814=) n.2592C= c.2438C= (p.Ser813=) c.2612C= (p.Ser871=) | |
| 7 | g.41966458G>T | CA367320708 | GLI3 | c.2615C>A (p.Ser872Tyr) c.2441C>A (p.Ser814Tyr) n.2592C>A c.2438C>A (p.Ser813Tyr) c.2612C>A (p.Ser871Tyr) | |
| 7 | g.41966459A= | CA1702661318 | GLI3 | c.2614T= (p.Ser872=) c.2440T= (p.Ser814=) n.2591T= c.2437T= (p.Ser813=) c.2611T= (p.Ser871=) | |
| 7 | g.41966459A>C | CA367320710 | GLI3 | c.2614T>G (p.Ser872Ala) c.2440T>G (p.Ser814Ala) n.2591T>G c.2437T>G (p.Ser813Ala) c.2611T>G (p.Ser871Ala) | |
| 7 | g.41966459A>G | CA156907556 | GLI3 | c.2614T>C (p.Ser872Pro) c.2440T>C (p.Ser814Pro) n.2591T>C c.2437T>C (p.Ser813Pro) c.2611T>C (p.Ser871Pro) | dbSNP gnomAD v4 COSMIC |
| 7 | g.41966459A>T | CA367320709 | GLI3 | c.2614T>A (p.Ser872Thr) c.2440T>A (p.Ser814Thr) n.2591T>A c.2437T>A (p.Ser813Thr) c.2611T>A (p.Ser871Thr) | |
| 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=) |