| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41966309_41966364delinsTGAGGCTGAGCAGGCTGGGCAGGCCGTCGCTCTGGCTGGCTTCGCTGGAGCGGCGC | CA1702661231 | GLI3 | c.2709_2764delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser903=) c.2535_2590delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser845=) n.2686_2741delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA c.2532_2587delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser844=) c.2706_2761delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser902=) | |
| 7 | g.41966315_41966369del | CA1139660047 | GLI3 | c.2709_2763del (p.Arg905ProfsTer?) c.2535_2589del (p.Arg847ProfsTer?) n.2686_2740del c.2532_2586del (p.Arg846ProfsTer?) c.2706_2760del (p.Arg904ProfsTer?) | ClinVar dbSNP |
| 7 | g.41966354T>A | CA367320490 | GLI3 | c.2719A>T (p.Ser907Cys) c.2545A>T (p.Ser849Cys) n.2696A>T c.2542A>T (p.Ser848Cys) c.2716A>T (p.Ser906Cys) | ClinVar |
| 7 | g.41966354T>C | CA367320491 | GLI3 | c.2719A>G (p.Ser907Gly) c.2545A>G (p.Ser849Gly) n.2696A>G c.2542A>G (p.Ser848Gly) c.2716A>G (p.Ser906Gly) | |
| 7 | g.41966354T>G | CA367320492 | GLI3 | c.2719A>C (p.Ser907Arg) c.2545A>C (p.Ser849Arg) n.2696A>C c.2542A>C (p.Ser848Arg) c.2716A>C (p.Ser906Arg) | |
| 7 | g.41966355G>A | CA454662520 | GLI3 | c.2718C>T (p.Ser906=) c.2544C>T (p.Ser848=) n.2695C>T c.2541C>T (p.Ser847=) c.2715C>T (p.Ser905=) | gnomAD v4 |
| 7 | g.41966355G>C | CA454662523 | GLI3 | c.2718C>G (p.Ser906=) c.2544C>G (p.Ser848=) n.2695C>G c.2541C>G (p.Ser847=) c.2715C>G (p.Ser905=) | |
| 7 | g.41966355G>T | CA454662524 | GLI3 | c.2718C>A (p.Ser906=) c.2544C>A (p.Ser848=) n.2695C>A c.2541C>A (p.Ser847=) c.2715C>A (p.Ser905=) | gnomAD v4 |
| 7 | g.41966356G>A | CA367320493 | GLI3 | c.2717C>T (p.Ser906Phe) c.2543C>T (p.Ser848Phe) n.2694C>T c.2540C>T (p.Ser847Phe) c.2714C>T (p.Ser905Phe) | |
| 7 | g.41966356G>C | CA4230543 | GLI3 | c.2717C>G (p.Ser906Cys) c.2543C>G (p.Ser848Cys) n.2694C>G c.2540C>G (p.Ser847Cys) c.2714C>G (p.Ser905Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966356G= | CA1702661262 | GLI3 | c.2717C= (p.Ser906=) c.2543C= (p.Ser848=) n.2694C= c.2540C= (p.Ser847=) c.2714C= (p.Ser905=) | |
| 7 | g.41966356G>T | CA367320494 | GLI3 | c.2717C>A (p.Ser906Tyr) c.2543C>A (p.Ser848Tyr) n.2694C>A c.2540C>A (p.Ser847Tyr) c.2714C>A (p.Ser905Tyr) | gnomAD v4 |
| 7 | g.41966357A>C | CA367320497 | GLI3 | c.2716T>G (p.Ser906Ala) c.2542T>G (p.Ser848Ala) n.2693T>G c.2539T>G (p.Ser847Ala) c.2713T>G (p.Ser905Ala) | |
| 7 | g.41966357A>G | CA367320496 | GLI3 | c.2716T>C (p.Ser906Pro) c.2542T>C (p.Ser848Pro) n.2693T>C c.2539T>C (p.Ser847Pro) c.2713T>C (p.Ser905Pro) | |
| 7 | g.41966357A>T | CA367320495 | GLI3 | c.2716T>A (p.Ser906Thr) c.2542T>A (p.Ser848Thr) n.2693T>A c.2539T>A (p.Ser847Thr) c.2713T>A (p.Ser905Thr) | gnomAD v4 |
| 7 | g.41966358G>A | CA454662533 | GLI3 | c.2715C>T (p.Arg905=) c.2541C>T (p.Arg847=) n.2692C>T c.2538C>T (p.Arg846=) c.2712C>T (p.Arg904=) | |
| 7 | g.41966358G>C | CA454662537 | GLI3 | c.2715C>G (p.Arg905=) c.2541C>G (p.Arg847=) n.2692C>G c.2538C>G (p.Arg846=) c.2712C>G (p.Arg904=) | |
| 7 | g.41966358G>T | CA454662536 | GLI3 | c.2715C>A (p.Arg905=) c.2541C>A (p.Arg847=) n.2692C>A c.2538C>A (p.Arg846=) c.2712C>A (p.Arg904=) | |
| 7 | g.41966359C>A | CA367320498 | GLI3 | c.2714G>T (p.Arg905Leu) c.2540G>T (p.Arg847Leu) n.2691G>T c.2537G>T (p.Arg846Leu) c.2711G>T (p.Arg904Leu) | dbSNP gnomAD v4 |
| 7 | g.41966359C>G | CA367320499 | GLI3 | c.2714G>C (p.Arg905Pro) c.2540G>C (p.Arg847Pro) n.2691G>C c.2537G>C (p.Arg846Pro) c.2711G>C (p.Arg904Pro) | ClinVar |
| 7 | g.41966359C>T | CA367320500 | GLI3 | c.2714G>A (p.Arg905His) c.2540G>A (p.Arg847His) n.2691G>A c.2537G>A (p.Arg846His) c.2711G>A (p.Arg904His) | gnomAD v4 |
| 7 | g.41966360G>A | CA367320501 | GLI3 | c.2713C>T (p.Arg905Cys) c.2539C>T (p.Arg847Cys) n.2690C>T c.2536C>T (p.Arg846Cys) c.2710C>T (p.Arg904Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966360G>C | CA367320502 | GLI3 | c.2713C>G (p.Arg905Gly) c.2539C>G (p.Arg847Gly) n.2690C>G c.2536C>G (p.Arg846Gly) c.2710C>G (p.Arg904Gly) | |
| 7 | g.41966360G= | CA1702661263 | GLI3 | c.2713C= (p.Arg905=) c.2539C= (p.Arg847=) n.2690C= c.2536C= (p.Arg846=) c.2710C= (p.Arg904=) | |
| 7 | g.41966360G>T | CA367320503 | GLI3 | c.2713C>A (p.Arg905Ser) c.2539C>A (p.Arg847Ser) n.2690C>A c.2536C>A (p.Arg846Ser) c.2710C>A (p.Arg904Ser) | gnomAD v4 |
| 7 | g.41966361G>A | CA454662542 | GLI3 | c.2712C>T (p.Arg904=) c.2538C>T (p.Arg846=) n.2689C>T c.2535C>T (p.Arg845=) c.2709C>T (p.Arg903=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966361G>C | CA454662543 | GLI3 | c.2712C>G (p.Arg904=) c.2538C>G (p.Arg846=) n.2689C>G c.2535C>G (p.Arg845=) c.2709C>G (p.Arg903=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966361G= | CA1702661264 | GLI3 | c.2712C= (p.Arg904=) c.2538C= (p.Arg846=) n.2689C= c.2535C= (p.Arg845=) c.2709C= (p.Arg903=) | |
| 7 | g.41966361G>T | CA454662544 | GLI3 | c.2712C>A (p.Arg904=) c.2538C>A (p.Arg846=) n.2689C>A c.2535C>A (p.Arg845=) c.2709C>A (p.Arg903=) | |
| 7 | g.41966362C>A | CA367320506 | GLI3 | c.2711G>T (p.Arg904Leu) c.2537G>T (p.Arg846Leu) n.2688G>T c.2534G>T (p.Arg845Leu) c.2708G>T (p.Arg903Leu) | |
| 7 | g.41966362C>G | CA367320505 | GLI3 | c.2711G>C (p.Arg904Pro) c.2537G>C (p.Arg846Pro) n.2688G>C c.2534G>C (p.Arg845Pro) c.2708G>C (p.Arg903Pro) | |
| 7 | g.41966362C>T | CA367320504 | GLI3 | c.2711G>A (p.Arg904His) c.2537G>A (p.Arg846His) n.2688G>A c.2534G>A (p.Arg845His) c.2708G>A (p.Arg903His) | ClinVar |
| 7 | g.41966363G>A | CA367320507 | GLI3 | c.2710C>T (p.Arg904Cys) c.2536C>T (p.Arg846Cys) n.2687C>T c.2533C>T (p.Arg845Cys) c.2707C>T (p.Arg903Cys) | gnomAD v4 COSMIC |
| 7 | g.41966363G>C | CA367320508 | GLI3 | c.2710C>G (p.Arg904Gly) c.2536C>G (p.Arg846Gly) n.2687C>G c.2533C>G (p.Arg845Gly) c.2707C>G (p.Arg903Gly) | |
| 7 | g.41966363G>T | CA367320509 | GLI3 | c.2710C>A (p.Arg904Ser) c.2536C>A (p.Arg846Ser) n.2687C>A c.2533C>A (p.Arg845Ser) c.2707C>A (p.Arg903Ser) | |
| 7 | g.41966364C>A | CA454662549 | GLI3 | c.2709G>T (p.Ser903=) c.2535G>T (p.Ser845=) n.2686G>T c.2532G>T (p.Ser844=) c.2706G>T (p.Ser902=) | dbSNP |
| 7 | g.41966364C= | CA1702661265 | GLI3 | c.2709G= (p.Ser903=) c.2535G= (p.Ser845=) n.2686G= c.2532G= (p.Ser844=) c.2706G= (p.Ser902=) | |
| 7 | g.41966364C>G | CA454662550 | GLI3 | c.2709G>C (p.Ser903=) c.2535G>C (p.Ser845=) n.2686G>C c.2532G>C (p.Ser844=) c.2706G>C (p.Ser902=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966364C>T | CA454662551 | GLI3 | c.2709G>A (p.Ser903=) c.2535G>A (p.Ser845=) n.2686G>A c.2532G>A (p.Ser844=) c.2706G>A (p.Ser902=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966365G>A | CA367320510 | GLI3 | c.2708C>T (p.Ser903Leu) c.2534C>T (p.Ser845Leu) n.2685C>T c.2531C>T (p.Ser844Leu) c.2705C>T (p.Ser902Leu) | |
| 7 | g.41966365G>C | CA367320511 | GLI3 | c.2708C>G (p.Ser903Trp) c.2534C>G (p.Ser845Trp) n.2685C>G c.2531C>G (p.Ser844Trp) c.2705C>G (p.Ser902Trp) | dbSNP gnomAD v2 |
| 7 | g.41966365G= | CA1702661266 | GLI3 | c.2708C= (p.Ser903=) c.2534C= (p.Ser845=) n.2685C= c.2531C= (p.Ser844=) c.2705C= (p.Ser902=) | |
| 7 | g.41966365G>T | CA367320512 | GLI3 | c.2708C>A (p.Ser903Ter) c.2534C>A (p.Ser845Ter) n.2685C>A c.2531C>A (p.Ser844Ter) c.2705C>A (p.Ser902Ter) | gnomAD v4 |
| 7 | g.41966366A>C | CA367320513 | GLI3 | c.2707T>G (p.Ser903Ala) c.2533T>G (p.Ser845Ala) n.2684T>G c.2530T>G (p.Ser844Ala) c.2704T>G (p.Ser902Ala) | |
| 7 | g.41966366A>G | CA367320515 | GLI3 | c.2707T>C (p.Ser903Pro) c.2533T>C (p.Ser845Pro) n.2684T>C c.2530T>C (p.Ser844Pro) c.2704T>C (p.Ser902Pro) | |
| 7 | g.41966366A>T | CA367320514 | GLI3 | c.2707T>A (p.Ser903Thr) c.2533T>A (p.Ser845Thr) n.2684T>A c.2530T>A (p.Ser844Thr) c.2704T>A (p.Ser902Thr) | |
| 7 | g.41966367G>A | CA4230544 | GLI3 | c.2706C>T (p.Ala902=) c.2532C>T (p.Ala844=) n.2683C>T c.2529C>T (p.Ala843=) c.2703C>T (p.Ala901=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966367G>C | CA454662557 | GLI3 | c.2706C>G (p.Ala902=) c.2532C>G (p.Ala844=) n.2683C>G c.2529C>G (p.Ala843=) c.2703C>G (p.Ala901=) | |
| 7 | g.41966367G= | CA1702661267 | GLI3 | c.2706C= (p.Ala902=) c.2532C= (p.Ala844=) n.2683C= c.2529C= (p.Ala843=) c.2703C= (p.Ala901=) | |
| 7 | g.41966367G>T | CA454662559 | GLI3 | c.2706C>A (p.Ala902=) c.2532C>A (p.Ala844=) n.2683C>A c.2529C>A (p.Ala843=) c.2703C>A (p.Ala901=) |