UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.41966346G>A | CA454662500 | GLI3 | c.2727C>T (p.Ala909=) c.2553C>T (p.Ala851=) n.2704C>T c.2550C>T (p.Ala850=) c.2724C>T (p.Ala908=) | |
| 7 | g.41966346G>C | CA454662501 | GLI3 | c.2727C>G (p.Ala909=) c.2553C>G (p.Ala851=) n.2704C>G c.2550C>G (p.Ala850=) c.2724C>G (p.Ala908=) | |
| 7 | g.41966346G= | CA1702661257 | GLI3 | c.2727C= (p.Ala909=) c.2553C= (p.Ala851=) n.2704C= c.2550C= (p.Ala850=) c.2724C= (p.Ala908=) | |
| 7 | g.41966346G>T | CA454662502 | GLI3 | c.2727C>A (p.Ala909=) c.2553C>A (p.Ala851=) n.2704C>A c.2550C>A (p.Ala850=) c.2724C>A (p.Ala908=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966347G>A | CA367320473 | GLI3 | c.2726C>T (p.Ala909Val) c.2552C>T (p.Ala851Val) n.2703C>T c.2549C>T (p.Ala850Val) c.2723C>T (p.Ala908Val) | |
| 7 | g.41966347G>C | CA4230541 | GLI3 | c.2726C>G (p.Ala909Gly) c.2552C>G (p.Ala851Gly) n.2703C>G c.2549C>G (p.Ala850Gly) c.2723C>G (p.Ala908Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966347G= | CA1702661258 | GLI3 | c.2726C= (p.Ala909=) c.2552C= (p.Ala851=) n.2703C= c.2549C= (p.Ala850=) c.2723C= (p.Ala908=) | |
| 7 | g.41966347G>T | CA367320474 | GLI3 | c.2726C>A (p.Ala909Asp) c.2552C>A (p.Ala851Asp) n.2703C>A c.2549C>A (p.Ala850Asp) c.2723C>A (p.Ala908Asp) | gnomAD v4 |
| 7 | g.41966348C>A | CA367320475 | GLI3 | c.2725G>T (p.Ala909Ser) c.2551G>T (p.Ala851Ser) n.2702G>T c.2548G>T (p.Ala850Ser) c.2722G>T (p.Ala908Ser) | |
| 7 | g.41966348C>G | CA367320476 | GLI3 | c.2725G>C (p.Ala909Pro) c.2551G>C (p.Ala851Pro) n.2702G>C c.2548G>C (p.Ala850Pro) c.2722G>C (p.Ala908Pro) | |
| 7 | g.41966348C>T | CA367320477 | GLI3 | c.2725G>A (p.Ala909Thr) c.2551G>A (p.Ala851Thr) n.2702G>A c.2548G>A (p.Ala850Thr) c.2722G>A (p.Ala908Thr) | gnomAD v4 |
| 7 | g.41966349T>A | CA367320478 | GLI3 | c.2724A>T (p.Glu908Asp) c.2550A>T (p.Glu850Asp) n.2701A>T c.2547A>T (p.Glu849Asp) c.2721A>T (p.Glu907Asp) | |
| 7 | g.41966349T>C | CA454662512 | GLI3 | c.2724A>G (p.Glu908=) c.2550A>G (p.Glu850=) n.2701A>G c.2547A>G (p.Glu849=) c.2721A>G (p.Glu907=) | |
| 7 | g.41966349T>G | CA367320479 | GLI3 | c.2724A>C (p.Glu908Asp) c.2550A>C (p.Glu850Asp) n.2701A>C c.2547A>C (p.Glu849Asp) c.2721A>C (p.Glu907Asp) | |
| 7 | g.41966350T>A | CA367320480 | GLI3 | c.2723A>T (p.Glu908Val) c.2549A>T (p.Glu850Val) n.2700A>T c.2546A>T (p.Glu849Val) c.2720A>T (p.Glu907Val) | |
| 7 | g.41966350T>C | CA367320481 | GLI3 | c.2723A>G (p.Glu908Gly) c.2549A>G (p.Glu850Gly) n.2700A>G c.2546A>G (p.Glu849Gly) c.2720A>G (p.Glu907Gly) | |
| 7 | g.41966350T>G | CA367320482 | GLI3 | c.2723A>C (p.Glu908Ala) c.2549A>C (p.Glu850Ala) n.2700A>C c.2546A>C (p.Glu849Ala) c.2720A>C (p.Glu907Ala) | |
| 7 | g.41966351C>A | CA367320484 | GLI3 | c.2722G>T (p.Glu908Ter) c.2548G>T (p.Glu850Ter) n.2699G>T c.2545G>T (p.Glu849Ter) c.2719G>T (p.Glu907Ter) | |
| 7 | g.41966351C= | CA1702661259 | GLI3 | c.2722G= (p.Glu908=) c.2548G= (p.Glu850=) n.2699G= c.2545G= (p.Glu849=) c.2719G= (p.Glu907=) | |
| 7 | g.41966351C>G | CA156907495 | GLI3 | c.2722G>C (p.Glu908Gln) c.2548G>C (p.Glu850Gln) n.2699G>C c.2545G>C (p.Glu849Gln) c.2719G>C (p.Glu907Gln) | dbSNP |
| 7 | g.41966351C>T | CA367320483 | GLI3 | c.2722G>A (p.Glu908Lys) c.2548G>A (p.Glu850Lys) n.2699G>A c.2545G>A (p.Glu849Lys) c.2719G>A (p.Glu907Lys) | |
| 7 | g.41966352G>A | CA4230542 | GLI3 | c.2721C>T (p.Ser907=) c.2547C>T (p.Ser849=) n.2698C>T c.2544C>T (p.Ser848=) c.2718C>T (p.Ser906=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966352G>C | CA367320485 | GLI3 | c.2721C>G (p.Ser907Arg) c.2547C>G (p.Ser849Arg) n.2698C>G c.2544C>G (p.Ser848Arg) c.2718C>G (p.Ser906Arg) | |
| 7 | g.41966352G= | CA1702661260 | GLI3 | c.2721C= (p.Ser907=) c.2547C= (p.Ser849=) n.2698C= c.2544C= (p.Ser848=) c.2718C= (p.Ser906=) | |
| 7 | g.41966352G>T | CA367320486 | GLI3 | c.2721C>A (p.Ser907Arg) c.2547C>A (p.Ser849Arg) n.2698C>A c.2544C>A (p.Ser848Arg) c.2718C>A (p.Ser906Arg) | |
| 7 | g.41966352_41966353delinsGC | CA1702661261 | GLI3 | c.2720_2721delinsGC (p.Ser907=) c.2546_2547delinsGC (p.Ser849=) n.2697_2698delinsGC c.2543_2544delinsGC (p.Ser848=) c.2717_2718delinsGC (p.Ser906=) | |
| 7 | g.41966353del | CA1139660048 | GLI3 | c.2720del (p.Ser907ThrfsTer?) c.2546del (p.Ser849ThrfsTer?) n.2697del c.2543del (p.Ser848ThrfsTer?) c.2717del (p.Ser906ThrfsTer?) | ClinVar dbSNP |
| 7 | g.41966353C>A | CA367320487 | GLI3 | c.2720G>T (p.Ser907Ile) c.2546G>T (p.Ser849Ile) n.2697G>T c.2543G>T (p.Ser848Ile) c.2717G>T (p.Ser906Ile) | |
| 7 | g.41966353C>G | CA367320488 | GLI3 | c.2720G>C (p.Ser907Thr) c.2546G>C (p.Ser849Thr) n.2697G>C c.2543G>C (p.Ser848Thr) c.2717G>C (p.Ser906Thr) | |
| 7 | g.41966353C>T | CA367320489 | GLI3 | c.2720G>A (p.Ser907Asn) c.2546G>A (p.Ser849Asn) n.2697G>A c.2543G>A (p.Ser848Asn) c.2717G>A (p.Ser906Asn) | |
| 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=) | |
| 7 | g.41966368G>A | CA367320516 | GLI3 | c.2705C>T (p.Ala902Val) c.2531C>T (p.Ala844Val) n.2682C>T c.2528C>T (p.Ala843Val) c.2702C>T (p.Ala901Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966368G>C | CA367320517 | GLI3 | c.2705C>G (p.Ala902Gly) c.2531C>G (p.Ala844Gly) n.2682C>G c.2528C>G (p.Ala843Gly) c.2702C>G (p.Ala901Gly) | |
| 7 | g.41966368G= | CA1702661268 | GLI3 | c.2705C= (p.Ala902=) c.2531C= (p.Ala844=) n.2682C= c.2528C= (p.Ala843=) c.2702C= (p.Ala901=) | |
| 7 | g.41966368G>T | CA367320518 | GLI3 | c.2705C>A (p.Ala902Asp) c.2531C>A (p.Ala844Asp) n.2682C>A c.2528C>A (p.Ala843Asp) c.2702C>A (p.Ala901Asp) | gnomAD v4 |
| 7 | g.41966369C>A | CA367320519 | GLI3 | c.2704G>T (p.Ala902Ser) c.2530G>T (p.Ala844Ser) n.2681G>T c.2527G>T (p.Ala843Ser) c.2701G>T (p.Ala901Ser) | gnomAD v4 |
| 7 | g.41966369C= | CA1702661269 | GLI3 | c.2704G= (p.Ala902=) c.2530G= (p.Ala844=) n.2681G= c.2527G= (p.Ala843=) c.2701G= (p.Ala901=) | |
| 7 | g.41966369C>G | CA367320520 | GLI3 | c.2704G>C (p.Ala902Pro) c.2530G>C (p.Ala844Pro) n.2681G>C c.2527G>C (p.Ala843Pro) c.2701G>C (p.Ala901Pro) | |
| 7 | g.41966369C>T | CA367320521 | GLI3 | c.2704G>A (p.Ala902Thr) c.2530G>A (p.Ala844Thr) n.2681G>A c.2527G>A (p.Ala843Thr) c.2701G>A (p.Ala901Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966370G>A | CA454662561 | GLI3 | c.2703C>T (p.Asp901=) c.2529C>T (p.Asp843=) n.2680C>T c.2526C>T (p.Asp842=) c.2700C>T (p.Asp900=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966370G>C | CA367320522 | GLI3 | c.2703C>G (p.Asp901Glu) c.2529C>G (p.Asp843Glu) n.2680C>G c.2526C>G (p.Asp842Glu) c.2700C>G (p.Asp900Glu) | |
| 7 | g.41966370G= | CA1702661270 | GLI3 | c.2703C= (p.Asp901=) c.2529C= (p.Asp843=) n.2680C= c.2526C= (p.Asp842=) c.2700C= (p.Asp900=) | |
| 7 | g.41966370G>T | CA367320523 | GLI3 | c.2703C>A (p.Asp901Glu) c.2529C>A (p.Asp843Glu) n.2680C>A c.2526C>A (p.Asp842Glu) c.2700C>A (p.Asp900Glu) | |
| 7 | g.41966371T>A | CA367320524 | GLI3 | c.2702A>T (p.Asp901Val) c.2528A>T (p.Asp843Val) n.2679A>T c.2525A>T (p.Asp842Val) c.2699A>T (p.Asp900Val) | |
| 7 | g.41966371T>C | CA367320525 | GLI3 | c.2702A>G (p.Asp901Gly) c.2528A>G (p.Asp843Gly) n.2679A>G c.2525A>G (p.Asp842Gly) c.2699A>G (p.Asp900Gly) | |
| 7 | g.41966371T>G | CA367320526 | GLI3 | c.2702A>C (p.Asp901Ala) c.2528A>C (p.Asp843Ala) n.2679A>C c.2525A>C (p.Asp842Ala) c.2699A>C (p.Asp900Ala) | |
| 7 | g.41966372C>A | CA367320527 | GLI3 | c.2701G>T (p.Asp901Tyr) c.2527G>T (p.Asp843Tyr) n.2678G>T c.2524G>T (p.Asp842Tyr) c.2698G>T (p.Asp900Tyr) | |
| 7 | g.41966372C>G | CA367320529 | GLI3 | c.2701G>C (p.Asp901His) c.2527G>C (p.Asp843His) n.2678G>C c.2524G>C (p.Asp842His) c.2698G>C (p.Asp900His) | |
| 7 | g.41966372C>T | CA367320528 | GLI3 | c.2701G>A (p.Asp901Asn) c.2527G>A (p.Asp843Asn) n.2678G>A c.2524G>A (p.Asp842Asn) c.2698G>A (p.Asp900Asn) | |
| 7 | g.41966373G>A | CA454662565 | GLI3 | c.2700C>T (p.Thr900=) c.2526C>T (p.Thr842=) n.2677C>T c.2523C>T (p.Thr841=) c.2697C>T (p.Thr899=) | gnomAD v4 |
| 7 | g.41966373G>C | CA454662567 | GLI3 | c.2700C>G (p.Thr900=) c.2526C>G (p.Thr842=) n.2677C>G c.2523C>G (p.Thr841=) c.2697C>G (p.Thr899=) | |
| 7 | g.41966373G= | CA1702661271 | GLI3 | c.2700C= (p.Thr900=) c.2526C= (p.Thr842=) n.2677C= c.2523C= (p.Thr841=) c.2697C= (p.Thr899=) | |
| 7 | g.41966373G>T | CA4230545 | GLI3 | c.2700C>A (p.Thr900=) c.2526C>A (p.Thr842=) n.2677C>A c.2523C>A (p.Thr841=) c.2697C>A (p.Thr899=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966374G>A | CA367320530 | GLI3 | c.2699C>T (p.Thr900Ile) c.2525C>T (p.Thr842Ile) n.2676C>T c.2522C>T (p.Thr841Ile) c.2696C>T (p.Thr899Ile) | gnomAD v4 |
| 7 | g.41966374G>C | CA367320531 | GLI3 | c.2699C>G (p.Thr900Ser) c.2525C>G (p.Thr842Ser) n.2676C>G c.2522C>G (p.Thr841Ser) c.2696C>G (p.Thr899Ser) | |
| 7 | g.41966374G>T | CA367320532 | GLI3 | c.2699C>A (p.Thr900Asn) c.2525C>A (p.Thr842Asn) n.2676C>A c.2522C>A (p.Thr841Asn) c.2696C>A (p.Thr899Asn) | gnomAD v4 |
| 7 | g.41966375T>A | CA367320533 | GLI3 | c.2698A>T (p.Thr900Ser) c.2524A>T (p.Thr842Ser) n.2675A>T c.2521A>T (p.Thr841Ser) c.2695A>T (p.Thr899Ser) | |
| 7 | g.41966375T>C | CA367320534 | GLI3 | c.2698A>G (p.Thr900Ala) c.2524A>G (p.Thr842Ala) n.2675A>G c.2521A>G (p.Thr841Ala) c.2695A>G (p.Thr899Ala) | gnomAD v4 |
| 7 | g.41966375T>G | CA367320535 | GLI3 | c.2698A>C (p.Thr900Pro) c.2524A>C (p.Thr842Pro) n.2675A>C c.2521A>C (p.Thr841Pro) c.2695A>C (p.Thr899Pro) | |
| 7 | g.41966376G>A | CA4230546 | GLI3 | c.2697C>T (p.Ser899=) c.2523C>T (p.Ser841=) n.2674C>T c.2520C>T (p.Ser840=) c.2694C>T (p.Ser898=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966376G>C | CA454662573 | GLI3 | c.2697C>G (p.Ser899=) c.2523C>G (p.Ser841=) n.2674C>G c.2520C>G (p.Ser840=) c.2694C>G (p.Ser898=) | |
| 7 | g.41966376G= | CA1702661272 | GLI3 | c.2697C= (p.Ser899=) c.2523C= (p.Ser841=) n.2674C= c.2520C= (p.Ser840=) c.2694C= (p.Ser898=) | |
| 7 | g.41966376G>T | CA454662574 | GLI3 | c.2697C>A (p.Ser899=) c.2523C>A (p.Ser841=) n.2674C>A c.2520C>A (p.Ser840=) c.2694C>A (p.Ser898=) | |
| 7 | g.41966377del | CA2682510167 | GLI3 | c.2697del (p.Thr900ProfsTer?) c.2523del (p.Thr842ProfsTer?) n.2674del c.2520del (p.Thr841ProfsTer?) c.2694del (p.Thr899ProfsTer?) | gnomAD v4 |
| 7 | g.41966377G>A | CA367320536 | GLI3 | c.2696C>T (p.Ser899Phe) c.2522C>T (p.Ser841Phe) n.2673C>T c.2519C>T (p.Ser840Phe) c.2693C>T (p.Ser898Phe) | |
| 7 | g.41966377G>C | CA367320537 | GLI3 | c.2696C>G (p.Ser899Cys) c.2522C>G (p.Ser841Cys) n.2673C>G c.2519C>G (p.Ser840Cys) c.2693C>G (p.Ser898Cys) | |
| 7 | g.41966377G>T | CA367320538 | GLI3 | c.2696C>A (p.Ser899Tyr) c.2522C>A (p.Ser841Tyr) n.2673C>A c.2519C>A (p.Ser840Tyr) c.2693C>A (p.Ser898Tyr) | |
| 7 | g.41966378A>C | CA367320541 | GLI3 | c.2695T>G (p.Ser899Ala) c.2521T>G (p.Ser841Ala) n.2672T>G c.2518T>G (p.Ser840Ala) c.2692T>G (p.Ser898Ala) | |
| 7 | g.41966378A>G | CA367320540 | GLI3 | c.2695T>C (p.Ser899Pro) c.2521T>C (p.Ser841Pro) n.2672T>C c.2518T>C (p.Ser840Pro) c.2692T>C (p.Ser898Pro) | |
| 7 | g.41966378A>T | CA367320539 | GLI3 | c.2695T>A (p.Ser899Thr) c.2521T>A (p.Ser841Thr) n.2672T>A c.2518T>A (p.Ser840Thr) c.2692T>A (p.Ser898Thr) | gnomAD v4 |
| 7 | g.41966379G>A | CA454662578 | GLI3 | c.2694C>T (p.Ile898=) c.2520C>T (p.Ile840=) n.2671C>T c.2517C>T (p.Ile839=) c.2691C>T (p.Ile897=) | |
| 7 | g.41966379G>C | CA367320542 | GLI3 | c.2694C>G (p.Ile898Met) c.2520C>G (p.Ile840Met) n.2671C>G c.2517C>G (p.Ile839Met) c.2691C>G (p.Ile897Met) | |
| 7 | g.41966379G>T | CA454662581 | GLI3 | c.2694C>A (p.Ile898=) c.2520C>A (p.Ile840=) n.2671C>A c.2517C>A (p.Ile839=) c.2691C>A (p.Ile897=) | gnomAD v4 |
| 7 | g.41966380A>C | CA367320543 | GLI3 | c.2693T>G (p.Ile898Ser) c.2519T>G (p.Ile840Ser) n.2670T>G c.2516T>G (p.Ile839Ser) c.2690T>G (p.Ile897Ser) | |
| 7 | g.41966380A>G | CA367320544 | GLI3 | c.2693T>C (p.Ile898Thr) c.2519T>C (p.Ile840Thr) n.2670T>C c.2516T>C (p.Ile839Thr) c.2690T>C (p.Ile897Thr) | |
| 7 | g.41966380A>T | CA367320545 | GLI3 | c.2693T>A (p.Ile898Asn) c.2519T>A (p.Ile840Asn) n.2670T>A c.2516T>A (p.Ile839Asn) c.2690T>A (p.Ile897Asn) | |
| 7 | g.41966381T>A | CA367320546 | GLI3 | c.2692A>T (p.Ile898Phe) c.2518A>T (p.Ile840Phe) n.2669A>T c.2515A>T (p.Ile839Phe) c.2689A>T (p.Ile897Phe) | |
| 7 | g.41966381T>C | CA367320547 | GLI3 | c.2692A>G (p.Ile898Val) c.2518A>G (p.Ile840Val) n.2669A>G c.2515A>G (p.Ile839Val) c.2689A>G (p.Ile897Val) | ClinVar |
| 7 | g.41966381T>G | CA367320548 | GLI3 | c.2692A>C (p.Ile898Leu) c.2518A>C (p.Ile840Leu) n.2669A>C c.2515A>C (p.Ile839Leu) c.2689A>C (p.Ile897Leu) | |
| 7 | g.41966382G>A | CA454662586 | GLI3 | c.2691C>T (p.Pro897=) c.2517C>T (p.Pro839=) n.2668C>T c.2514C>T (p.Pro838=) c.2688C>T (p.Pro896=) | dbSNP |
| 7 | g.41966382G>C | CA454662587 | GLI3 | c.2691C>G (p.Pro897=) c.2517C>G (p.Pro839=) n.2668C>G c.2514C>G (p.Pro838=) c.2688C>G (p.Pro896=) | |
| 7 | g.41966382G= | CA1702661273 | GLI3 | c.2691C= (p.Pro897=) c.2517C= (p.Pro839=) n.2668C= c.2514C= (p.Pro838=) c.2688C= (p.Pro896=) | |
| 7 | g.41966382G>T | CA454662589 | GLI3 | c.2691C>A (p.Pro897=) c.2517C>A (p.Pro839=) n.2668C>A c.2514C>A (p.Pro838=) c.2688C>A (p.Pro896=) | gnomAD v4 |
| 7 | g.41966383G>A | CA367320549 | GLI3 | c.2690C>T (p.Pro897Leu) c.2516C>T (p.Pro839Leu) n.2667C>T c.2513C>T (p.Pro838Leu) c.2687C>T (p.Pro896Leu) | |
| 7 | g.41966383G>C | CA367320550 | GLI3 | c.2690C>G (p.Pro897Arg) c.2516C>G (p.Pro839Arg) n.2667C>G c.2513C>G (p.Pro838Arg) c.2687C>G (p.Pro896Arg) | ClinVar dbSNP |
| 7 | g.41966383G>T | CA367320551 | GLI3 | c.2690C>A (p.Pro897His) c.2516C>A (p.Pro839His) n.2667C>A c.2513C>A (p.Pro838His) c.2687C>A (p.Pro896His) | |
| 7 | g.41966384G>A | CA367320552 | GLI3 | c.2689C>T (p.Pro897Ser) c.2515C>T (p.Pro839Ser) n.2666C>T c.2512C>T (p.Pro838Ser) c.2686C>T (p.Pro896Ser) | gnomAD v4 |
| 7 | g.41966384G>C | CA367320553 | GLI3 | c.2689C>G (p.Pro897Ala) c.2515C>G (p.Pro839Ala) n.2666C>G c.2512C>G (p.Pro838Ala) c.2686C>G (p.Pro896Ala) | |
| 7 | g.41966384G>T | CA367320554 | GLI3 | c.2689C>A (p.Pro897Thr) c.2515C>A (p.Pro839Thr) n.2666C>A c.2512C>A (p.Pro838Thr) c.2686C>A (p.Pro896Thr) | gnomAD v4 |
| 7 | g.41966385G>A | CA454662594 | GLI3 | c.2688C>T (p.Asp896=) c.2514C>T (p.Asp838=) n.2665C>T c.2511C>T (p.Asp837=) c.2685C>T (p.Asp895=) | |
| 7 | g.41966385G>C | CA367320555 | GLI3 | c.2688C>G (p.Asp896Glu) c.2514C>G (p.Asp838Glu) n.2665C>G c.2511C>G (p.Asp837Glu) c.2685C>G (p.Asp895Glu) | |
| 7 | g.41966385G>T | CA367320556 | GLI3 | c.2688C>A (p.Asp896Glu) c.2514C>A (p.Asp838Glu) n.2665C>A c.2511C>A (p.Asp837Glu) c.2685C>A (p.Asp895Glu) | gnomAD v4 |
| 7 | g.41966386T>A | CA367320557 | GLI3 | c.2687A>T (p.Asp896Val) c.2513A>T (p.Asp838Val) n.2664A>T c.2510A>T (p.Asp837Val) c.2684A>T (p.Asp895Val) | |
| 7 | g.41966386T>C | CA367320559 | GLI3 | c.2687A>G (p.Asp896Gly) c.2513A>G (p.Asp838Gly) n.2664A>G c.2510A>G (p.Asp837Gly) c.2684A>G (p.Asp895Gly) | |
| 7 | g.41966386T>G | CA367320558 | GLI3 | c.2687A>C (p.Asp896Ala) c.2513A>C (p.Asp838Ala) n.2664A>C c.2510A>C (p.Asp837Ala) c.2684A>C (p.Asp895Ala) | |
| 7 | g.41966387C>A | CA367320560 | GLI3 | c.2686G>T (p.Asp896Tyr) c.2512G>T (p.Asp838Tyr) n.2663G>T c.2509G>T (p.Asp837Tyr) c.2683G>T (p.Asp895Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966387C= | CA1702661274 | GLI3 | c.2686G= (p.Asp896=) c.2512G= (p.Asp838=) n.2663G= c.2509G= (p.Asp837=) c.2683G= (p.Asp895=) | |
| 7 | g.41966387C>G | CA367320561 | GLI3 | c.2686G>C (p.Asp896His) c.2512G>C (p.Asp838His) n.2663G>C c.2509G>C (p.Asp837His) c.2683G>C (p.Asp895His) | ClinVar |
| 7 | g.41966387C>T | CA367320562 | GLI3 | c.2686G>A (p.Asp896Asn) c.2512G>A (p.Asp838Asn) n.2663G>A c.2509G>A (p.Asp837Asn) c.2683G>A (p.Asp895Asn) | gnomAD v4 |
| 7 | g.41966388G>A | CA4230547 | GLI3 | c.2685C>T (p.Tyr895=) c.2511C>T (p.Tyr837=) n.2662C>T c.2508C>T (p.Tyr836=) c.2682C>T (p.Tyr894=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966388G>C | CA367320563 | GLI3 | c.2685C>G (p.Tyr895Ter) c.2511C>G (p.Tyr837Ter) n.2662C>G c.2508C>G (p.Tyr836Ter) c.2682C>G (p.Tyr894Ter) | ClinVar dbSNP |
| 7 | g.41966388G= | CA1702661275 | GLI3 | c.2685C= (p.Tyr895=) c.2511C= (p.Tyr837=) n.2662C= c.2508C= (p.Tyr836=) c.2682C= (p.Tyr894=) | |
| 7 | g.41966388G>T | CA367320564 | GLI3 | c.2685C>A (p.Tyr895Ter) c.2511C>A (p.Tyr837Ter) n.2662C>A c.2508C>A (p.Tyr836Ter) c.2682C>A (p.Tyr894Ter) | |
| 7 | g.41966389T>A | CA367320567 | GLI3 | c.2684A>T (p.Tyr895Phe) c.2510A>T (p.Tyr837Phe) n.2661A>T c.2507A>T (p.Tyr836Phe) c.2681A>T (p.Tyr894Phe) | |
| 7 | g.41966389T>C | CA367320566 | GLI3 | c.2684A>G (p.Tyr895Cys) c.2510A>G (p.Tyr837Cys) n.2661A>G c.2507A>G (p.Tyr836Cys) c.2681A>G (p.Tyr894Cys) | |
| 7 | g.41966389T>G | CA367320565 | GLI3 | c.2684A>C (p.Tyr895Ser) c.2510A>C (p.Tyr837Ser) n.2661A>C c.2507A>C (p.Tyr836Ser) c.2681A>C (p.Tyr894Ser) | |
| 7 | g.41966390A>C | CA367320568 | GLI3 | c.2683T>G (p.Tyr895Asp) c.2509T>G (p.Tyr837Asp) n.2660T>G c.2506T>G (p.Tyr836Asp) c.2680T>G (p.Tyr894Asp) | |
| 7 | g.41966390A>G | CA367320569 | GLI3 | c.2683T>C (p.Tyr895His) c.2509T>C (p.Tyr837His) n.2660T>C c.2506T>C (p.Tyr836His) c.2680T>C (p.Tyr894His) | |
| 7 | g.41966390A>T | CA367320570 | GLI3 | c.2683T>A (p.Tyr895Asn) c.2509T>A (p.Tyr837Asn) n.2660T>A c.2506T>A (p.Tyr836Asn) c.2680T>A (p.Tyr894Asn) | |
| 7 | g.41966391G>A | CA454662601 | GLI3 | c.2682C>T (p.Ser894=) c.2508C>T (p.Ser836=) n.2659C>T c.2505C>T (p.Ser835=) c.2679C>T (p.Ser893=) | gnomAD v4 |
| 7 | g.41966391G>C | CA454662606 | GLI3 | c.2682C>G (p.Ser894=) c.2508C>G (p.Ser836=) n.2659C>G c.2505C>G (p.Ser835=) c.2679C>G (p.Ser893=) | |
| 7 | g.41966391G>T | CA454662603 | GLI3 | c.2682C>A (p.Ser894=) c.2508C>A (p.Ser836=) n.2659C>A c.2505C>A (p.Ser835=) c.2679C>A (p.Ser893=) | |
| 7 | g.41966392G>A | CA367320571 | GLI3 | c.2681C>T (p.Ser894Phe) c.2507C>T (p.Ser836Phe) n.2658C>T c.2504C>T (p.Ser835Phe) c.2678C>T (p.Ser893Phe) | |
| 7 | g.41966392G>C | CA367320572 | GLI3 | c.2681C>G (p.Ser894Cys) c.2507C>G (p.Ser836Cys) n.2658C>G c.2504C>G (p.Ser835Cys) c.2678C>G (p.Ser893Cys) | |
| 7 | g.41966392G>T | CA367320573 | GLI3 | c.2681C>A (p.Ser894Tyr) c.2507C>A (p.Ser836Tyr) n.2658C>A c.2504C>A (p.Ser835Tyr) c.2678C>A (p.Ser893Tyr) | |
| 7 | g.41966393A>C | CA367320574 | GLI3 | c.2680T>G (p.Ser894Ala) c.2506T>G (p.Ser836Ala) n.2657T>G c.2503T>G (p.Ser835Ala) c.2677T>G (p.Ser893Ala) | |
| 7 | g.41966393A>G | CA367320576 | GLI3 | c.2680T>C (p.Ser894Pro) c.2506T>C (p.Ser836Pro) n.2657T>C c.2503T>C (p.Ser835Pro) c.2677T>C (p.Ser893Pro) | gnomAD v4 |
| 7 | g.41966393A>T | CA367320575 | GLI3 | c.2680T>A (p.Ser894Thr) c.2506T>A (p.Ser836Thr) n.2657T>A c.2503T>A (p.Ser835Thr) c.2677T>A (p.Ser893Thr) | |
| 7 | g.41966394G>A | CA454662609 | GLI3 | c.2679C>T (p.Asp893=) c.2505C>T (p.Asp835=) n.2656C>T c.2502C>T (p.Asp834=) c.2676C>T (p.Asp892=) | gnomAD v4 |
| 7 | g.41966394G>C | CA367320577 | GLI3 | c.2679C>G (p.Asp893Glu) c.2505C>G (p.Asp835Glu) n.2656C>G c.2502C>G (p.Asp834Glu) c.2676C>G (p.Asp892Glu) | |
| 7 | g.41966394G= | CA1702661276 | GLI3 | c.2679C= (p.Asp893=) c.2505C= (p.Asp835=) n.2656C= c.2502C= (p.Asp834=) c.2676C= (p.Asp892=) | |
| 7 | g.41966394G>T | CA4230548 | GLI3 | c.2679C>A (p.Asp893Glu) c.2505C>A (p.Asp835Glu) n.2656C>A c.2502C>A (p.Asp834Glu) c.2676C>A (p.Asp892Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966395T>A | CA367320578 | GLI3 | c.2678A>T (p.Asp893Val) c.2504A>T (p.Asp835Val) n.2655A>T c.2501A>T (p.Asp834Val) c.2675A>T (p.Asp892Val) | gnomAD v4 |
| 7 | g.41966395T>C | CA367320579 | GLI3 | c.2678A>G (p.Asp893Gly) c.2504A>G (p.Asp835Gly) n.2655A>G c.2501A>G (p.Asp834Gly) c.2675A>G (p.Asp892Gly) | ClinVar dbSNP |
| 7 | g.41966395T>G | CA367320580 | GLI3 | c.2678A>C (p.Asp893Ala) c.2504A>C (p.Asp835Ala) n.2655A>C c.2501A>C (p.Asp834Ala) c.2675A>C (p.Asp892Ala) | |
| 7 | g.41966395T= | CA1702661277 | GLI3 | c.2678A= (p.Asp893=) c.2504A= (p.Asp835=) n.2655A= c.2501A= (p.Asp834=) c.2675A= (p.Asp892=) | |
| 7 | g.41966396C>A | CA367320581 | GLI3 | c.2677G>T (p.Asp893Tyr) c.2503G>T (p.Asp835Tyr) n.2654G>T c.2500G>T (p.Asp834Tyr) c.2674G>T (p.Asp892Tyr) | |
| 7 | g.41966396C>G | CA367320582 | GLI3 | c.2677G>C (p.Asp893His) c.2503G>C (p.Asp835His) n.2654G>C c.2500G>C (p.Asp834His) c.2674G>C (p.Asp892His) | gnomAD v4 |
| 7 | g.41966396C>T | CA367320583 | GLI3 | c.2677G>A (p.Asp893Asn) c.2503G>A (p.Asp835Asn) n.2654G>A c.2500G>A (p.Asp834Asn) c.2674G>A (p.Asp892Asn) | gnomAD v4 |
| 7 | g.41966397G>A | CA454662612 | GLI3 | c.2676C>T (p.Ala892=) c.2502C>T (p.Ala834=) n.2653C>T c.2499C>T (p.Ala833=) c.2673C>T (p.Ala891=) | dbSNP gnomAD v4 |
| 7 | g.41966397G>C | CA454662613 | GLI3 | c.2676C>G (p.Ala892=) c.2502C>G (p.Ala834=) n.2653C>G c.2499C>G (p.Ala833=) c.2673C>G (p.Ala891=) | gnomAD v4 |
| 7 | g.41966397G>T | CA454662615 | GLI3 | c.2676C>A (p.Ala892=) c.2502C>A (p.Ala834=) n.2653C>A c.2499C>A (p.Ala833=) c.2673C>A (p.Ala891=) | |
| 7 | g.41966397_41966409del | CA2695198482 | GLI3 | c.2664_2676del (p.Asn888LysfsTer?) c.2490_2502del (p.Asn830LysfsTer?) n.2641_2653del c.2487_2499del (p.Asn829LysfsTer?) c.2661_2673del (p.Asn887LysfsTer?) | ClinVar |
| 7 | g.41966398G>A | CA4230549 | GLI3 | c.2675C>T (p.Ala892Val) c.2501C>T (p.Ala834Val) n.2652C>T c.2498C>T (p.Ala833Val) c.2672C>T (p.Ala891Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966398G>C | CA367320584 | GLI3 | c.2675C>G (p.Ala892Gly) c.2501C>G (p.Ala834Gly) n.2652C>G c.2498C>G (p.Ala833Gly) c.2672C>G (p.Ala891Gly) | |
| 7 | g.41966398G= | CA1702661278 | GLI3 | c.2675C= (p.Ala892=) c.2501C= (p.Ala834=) n.2652C= c.2498C= (p.Ala833=) c.2672C= (p.Ala891=) | |
| 7 | g.41966398G>T | CA367320585 | GLI3 | c.2675C>A (p.Ala892Asp) c.2501C>A (p.Ala834Asp) n.2652C>A c.2498C>A (p.Ala833Asp) c.2672C>A (p.Ala891Asp) | |
| 7 | g.41966399C>A | CA367320586 | GLI3 | c.2674G>T (p.Ala892Ser) c.2500G>T (p.Ala834Ser) n.2651G>T c.2497G>T (p.Ala833Ser) c.2671G>T (p.Ala891Ser) | |
| 7 | g.41966399C= | CA1702661279 | GLI3 | c.2674G= (p.Ala892=) c.2500G= (p.Ala834=) n.2651G= c.2497G= (p.Ala833=) c.2671G= (p.Ala891=) | |
| 7 | g.41966399C>G | CA367320588 | GLI3 | c.2674G>C (p.Ala892Pro) c.2500G>C (p.Ala834Pro) n.2651G>C c.2497G>C (p.Ala833Pro) c.2671G>C (p.Ala891Pro) | |
| 7 | g.41966399C>T | CA367320587 | GLI3 | c.2674G>A (p.Ala892Thr) c.2500G>A (p.Ala834Thr) n.2651G>A c.2497G>A (p.Ala833Thr) c.2671G>A (p.Ala891Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966400C>A | CA454662622 | GLI3 | c.2673G>T (p.Val891=) c.2499G>T (p.Val833=) n.2650G>T c.2496G>T (p.Val832=) c.2670G>T (p.Val890=) | |
| 7 | g.41966400C= | CA1702661280 | GLI3 | c.2673G= (p.Val891=) c.2499G= (p.Val833=) n.2650G= c.2496G= (p.Val832=) c.2670G= (p.Val890=) | |
| 7 | g.41966400C>G | CA454662623 | GLI3 | c.2673G>C (p.Val891=) c.2499G>C (p.Val833=) n.2650G>C c.2496G>C (p.Val832=) c.2670G>C (p.Val890=) | |
| 7 | g.41966400C>T | CA454662621 | GLI3 | c.2673G>A (p.Val891=) c.2499G>A (p.Val833=) n.2650G>A c.2496G>A (p.Val832=) c.2670G>A (p.Val890=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966401A>C | CA367320589 | GLI3 | c.2672T>G (p.Val891Gly) c.2498T>G (p.Val833Gly) n.2649T>G c.2495T>G (p.Val832Gly) c.2669T>G (p.Val890Gly) | |
| 7 | g.41966401A>G | CA367320590 | GLI3 | c.2672T>C (p.Val891Ala) c.2498T>C (p.Val833Ala) n.2649T>C c.2495T>C (p.Val832Ala) c.2669T>C (p.Val890Ala) | |
| 7 | g.41966401A>T | CA367320591 | GLI3 | c.2672T>A (p.Val891Glu) c.2498T>A (p.Val833Glu) n.2649T>A c.2495T>A (p.Val832Glu) c.2669T>A (p.Val890Glu) | |
| 7 | g.41966402C>A | CA367320592 | GLI3 | c.2671G>T (p.Val891Leu) c.2497G>T (p.Val833Leu) n.2648G>T c.2494G>T (p.Val832Leu) c.2668G>T (p.Val890Leu) | gnomAD v4 |
| 7 | g.41966402C= | CA1702661281 | GLI3 | c.2671G= (p.Val891=) c.2497G= (p.Val833=) n.2648G= c.2494G= (p.Val832=) c.2668G= (p.Val890=) | |
| 7 | g.41966402C>G | CA367320593 | GLI3 | c.2671G>C (p.Val891Leu) c.2497G>C (p.Val833Leu) n.2648G>C c.2494G>C (p.Val832Leu) c.2668G>C (p.Val890Leu) | |
| 7 | g.41966402C>T | CA4230550 | GLI3 | c.2671G>A (p.Val891Met) c.2497G>A (p.Val833Met) n.2648G>A c.2494G>A (p.Val832Met) c.2668G>A (p.Val890Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966403G>A | CA454662627 | GLI3 | c.2670C>T (p.Ser890=) c.2496C>T (p.Ser832=) n.2647C>T c.2493C>T (p.Ser831=) c.2667C>T (p.Ser889=) | gnomAD v4 COSMIC |
| 7 | g.41966403G>C | CA367320594 | GLI3 | c.2670C>G (p.Ser890Arg) c.2496C>G (p.Ser832Arg) n.2647C>G c.2493C>G (p.Ser831Arg) c.2667C>G (p.Ser889Arg) | |
| 7 | g.41966403G>T | CA367320595 | GLI3 | c.2670C>A (p.Ser890Arg) c.2496C>A (p.Ser832Arg) n.2647C>A c.2493C>A (p.Ser831Arg) c.2667C>A (p.Ser889Arg) | |
| 7 | g.41966404C>A | CA367320596 | GLI3 | c.2669G>T (p.Ser890Ile) c.2495G>T (p.Ser832Ile) n.2646G>T c.2492G>T (p.Ser831Ile) c.2666G>T (p.Ser889Ile) | |
| 7 | g.41966404C>G | CA367320597 | GLI3 | c.2669G>C (p.Ser890Thr) c.2495G>C (p.Ser832Thr) n.2646G>C c.2492G>C (p.Ser831Thr) c.2666G>C (p.Ser889Thr) | |
| 7 | g.41966404C>T | CA367320598 | GLI3 | c.2669G>A (p.Ser890Asn) c.2495G>A (p.Ser832Asn) n.2646G>A c.2492G>A (p.Ser831Asn) c.2666G>A (p.Ser889Asn) | |
| 7 | g.41966405T>A | CA367320601 | GLI3 | c.2668A>T (p.Ser890Cys) c.2494A>T (p.Ser832Cys) n.2645A>T c.2491A>T (p.Ser831Cys) c.2665A>T (p.Ser889Cys) | |
| 7 | g.41966405T>C | CA367320600 | GLI3 | c.2668A>G (p.Ser890Gly) c.2494A>G (p.Ser832Gly) n.2645A>G c.2491A>G (p.Ser831Gly) c.2665A>G (p.Ser889Gly) | |
| 7 | g.41966405T>G | CA367320599 | GLI3 | c.2668A>C (p.Ser890Arg) c.2494A>C (p.Ser832Arg) n.2645A>C c.2491A>C (p.Ser831Arg) c.2665A>C (p.Ser889Arg) | |
| 7 | g.41966406C>A | CA454662631 | GLI3 | c.2667G>T (p.Val889=) c.2493G>T (p.Val831=) n.2644G>T c.2490G>T (p.Val830=) c.2664G>T (p.Val888=) | |
| 7 | g.41966406C= | CA1702661282 | GLI3 | c.2667G= (p.Val889=) c.2493G= (p.Val831=) n.2644G= c.2490G= (p.Val830=) c.2664G= (p.Val888=) | |
| 7 | g.41966406C>G | CA454662632 | GLI3 | c.2667G>C (p.Val889=) c.2493G>C (p.Val831=) n.2644G>C c.2490G>C (p.Val830=) c.2664G>C (p.Val888=) | |
| 7 | g.41966406C>T | CA454662633 | GLI3 | c.2667G>A (p.Val889=) c.2493G>A (p.Val831=) n.2644G>A c.2490G>A (p.Val830=) c.2664G>A (p.Val888=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966407A= | CA1702661283 | GLI3 | c.2666T= (p.Val889=) c.2492T= (p.Val831=) n.2643T= c.2489T= (p.Val830=) c.2663T= (p.Val888=) | |
| 7 | g.41966407A>C | CA367320602 | GLI3 | c.2666T>G (p.Val889Gly) c.2492T>G (p.Val831Gly) n.2643T>G c.2489T>G (p.Val830Gly) c.2663T>G (p.Val888Gly) | |
| 7 | g.41966407A>G | CA367320603 | GLI3 | c.2666T>C (p.Val889Ala) c.2492T>C (p.Val831Ala) n.2643T>C c.2489T>C (p.Val830Ala) c.2663T>C (p.Val888Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966407A>T | CA4230551 | GLI3 | c.2666T>A (p.Val889Glu) c.2492T>A (p.Val831Glu) n.2643T>A c.2489T>A (p.Val830Glu) c.2663T>A (p.Val888Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966408C>A | CA367320604 | GLI3 | c.2665G>T (p.Val889Leu) c.2491G>T (p.Val831Leu) n.2642G>T c.2488G>T (p.Val830Leu) c.2662G>T (p.Val888Leu) | |
| 7 | g.41966408C= | CA1702661284 | GLI3 | c.2665G= (p.Val889=) c.2491G= (p.Val831=) n.2642G= c.2488G= (p.Val830=) c.2662G= (p.Val888=) | |
| 7 | g.41966408C>G | CA367320605 | GLI3 | c.2665G>C (p.Val889Leu) c.2491G>C (p.Val831Leu) n.2642G>C c.2488G>C (p.Val830Leu) c.2662G>C (p.Val888Leu) | gnomAD v4 |
| 7 | g.41966408C>T | CA367320606 | GLI3 | c.2665G>A (p.Val889Met) c.2491G>A (p.Val831Met) n.2642G>A c.2488G>A (p.Val830Met) c.2662G>A (p.Val888Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966409G>A | CA454662637 | GLI3 | c.2664C>T (p.Asn888=) c.2490C>T (p.Asn830=) n.2641C>T c.2487C>T (p.Asn829=) c.2661C>T (p.Asn887=) | gnomAD v4 |
| 7 | g.41966409G>C | CA156907522 | GLI3 | c.2664C>G (p.Asn888Lys) c.2490C>G (p.Asn830Lys) n.2641C>G c.2487C>G (p.Asn829Lys) c.2661C>G (p.Asn887Lys) | dbSNP |
| 7 | g.41966409G= | CA1702661285 | GLI3 | c.2664C= (p.Asn888=) c.2490C= (p.Asn830=) n.2641C= c.2487C= (p.Asn829=) c.2661C= (p.Asn887=) | |
| 7 | g.41966409G>T | CA367320607 | GLI3 | c.2664C>A (p.Asn888Lys) c.2490C>A (p.Asn830Lys) n.2641C>A c.2487C>A (p.Asn829Lys) c.2661C>A (p.Asn887Lys) | |
| 7 | g.41966410T>A | CA367320608 | GLI3 | c.2663A>T (p.Asn888Ile) c.2489A>T (p.Asn830Ile) n.2640A>T c.2486A>T (p.Asn829Ile) c.2660A>T (p.Asn887Ile) | gnomAD v4 |
| 7 | g.41966410T>C | CA367320609 | GLI3 | c.2663A>G (p.Asn888Ser) c.2489A>G (p.Asn830Ser) n.2640A>G c.2486A>G (p.Asn829Ser) c.2660A>G (p.Asn887Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966410T>G | CA367320610 | GLI3 | c.2663A>C (p.Asn888Thr) c.2489A>C (p.Asn830Thr) n.2640A>C c.2486A>C (p.Asn829Thr) c.2660A>C (p.Asn887Thr) | |
| 7 | g.41966410T= | CA1702661286 | GLI3 | c.2663A= (p.Asn888=) c.2489A= (p.Asn830=) n.2640A= c.2486A= (p.Asn829=) c.2660A= (p.Asn887=) | |
| 7 | g.41966411T>A | CA367320613 | GLI3 | c.2662A>T (p.Asn888Tyr) c.2488A>T (p.Asn830Tyr) n.2639A>T c.2485A>T (p.Asn829Tyr) c.2659A>T (p.Asn887Tyr) | |
| 7 | g.41966411T>C | CA367320612 | GLI3 | c.2662A>G (p.Asn888Asp) c.2488A>G (p.Asn830Asp) n.2639A>G c.2485A>G (p.Asn829Asp) c.2659A>G (p.Asn887Asp) | dbSNP |
| 7 | g.41966411T>G | CA367320611 | GLI3 | c.2662A>C (p.Asn888His) c.2488A>C (p.Asn830His) n.2639A>C c.2485A>C (p.Asn829His) c.2659A>C (p.Asn887His) | gnomAD v4 |
| 7 | g.41966411T= | CA1702661287 | GLI3 | c.2662A= (p.Asn888=) c.2488A= (p.Asn830=) n.2639A= c.2485A= (p.Asn829=) c.2659A= (p.Asn887=) | |
| 7 | g.41966412C>A | CA367320614 | GLI3 | c.2661G>T (p.Gln887His) c.2487G>T (p.Gln829His) n.2638G>T c.2484G>T (p.Gln828His) c.2658G>T (p.Gln886His) | |
| 7 | g.41966412C>G | CA367320615 | GLI3 | c.2661G>C (p.Gln887His) c.2487G>C (p.Gln829His) n.2638G>C c.2484G>C (p.Gln828His) c.2658G>C (p.Gln886His) | |
| 7 | g.41966412C>T | CA454662638 | GLI3 | c.2661G>A (p.Gln887=) c.2487G>A (p.Gln829=) n.2638G>A c.2484G>A (p.Gln828=) c.2658G>A (p.Gln886=) | COSMIC |
| 7 | g.41966413T>A | CA367320616 | GLI3 | c.2660A>T (p.Gln887Leu) c.2486A>T (p.Gln829Leu) n.2637A>T c.2483A>T (p.Gln828Leu) c.2657A>T (p.Gln886Leu) | gnomAD v4 |
| 7 | g.41966413T>C | CA367320617 | GLI3 | c.2660A>G (p.Gln887Arg) c.2486A>G (p.Gln829Arg) n.2637A>G c.2483A>G (p.Gln828Arg) c.2657A>G (p.Gln886Arg) | |
| 7 | g.41966413T>G | CA367320618 | GLI3 | c.2660A>C (p.Gln887Pro) c.2486A>C (p.Gln829Pro) n.2637A>C c.2483A>C (p.Gln828Pro) c.2657A>C (p.Gln886Pro) | gnomAD v4 |
| 7 | g.41966414G>A | CA367320619 | GLI3 | c.2659C>T (p.Gln887Ter) c.2485C>T (p.Gln829Ter) n.2636C>T c.2482C>T (p.Gln828Ter) c.2656C>T (p.Gln886Ter) | |
| 7 | g.41966414G>C | CA367320620 | GLI3 | c.2659C>G (p.Gln887Glu) c.2485C>G (p.Gln829Glu) n.2636C>G c.2482C>G (p.Gln828Glu) c.2656C>G (p.Gln886Glu) | |
| 7 | g.41966414G= | CA1702661288 | GLI3 | c.2659C= (p.Gln887=) c.2485C= (p.Gln829=) n.2636C= c.2482C= (p.Gln828=) c.2656C= (p.Gln886=) | |
| 7 | g.41966414G>T | CA4230552 | GLI3 | c.2659C>A (p.Gln887Lys) c.2485C>A (p.Gln829Lys) n.2636C>A c.2482C>A (p.Gln828Lys) c.2656C>A (p.Gln886Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966415C>A | CA4230553 | GLI3 | c.2658G>T (p.Pro886=) c.2484G>T (p.Pro828=) n.2635G>T c.2481G>T (p.Pro827=) c.2655G>T (p.Pro885=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966415C= | CA1702661289 | GLI3 | c.2658G= (p.Pro886=) c.2484G= (p.Pro828=) n.2635G= c.2481G= (p.Pro827=) c.2655G= (p.Pro885=) | |
| 7 | g.41966415C>G | CA454662642 | GLI3 | c.2658G>C (p.Pro886=) c.2484G>C (p.Pro828=) n.2635G>C c.2481G>C (p.Pro827=) c.2655G>C (p.Pro885=) | |
| 7 | g.41966415C>T | CA4230554 | GLI3 | c.2658G>A (p.Pro886=) c.2484G>A (p.Pro828=) n.2635G>A c.2481G>A (p.Pro827=) c.2655G>A (p.Pro885=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966416G>A | CA367320621 | GLI3 | c.2657C>T (p.Pro886Leu) c.2483C>T (p.Pro828Leu) n.2634C>T c.2480C>T (p.Pro827Leu) c.2654C>T (p.Pro885Leu) | gnomAD v4 COSMIC |
| 7 | g.41966416G>C | CA367320622 | GLI3 | c.2657C>G (p.Pro886Arg) c.2483C>G (p.Pro828Arg) n.2634C>G c.2480C>G (p.Pro827Arg) c.2654C>G (p.Pro885Arg) | |
| 7 | g.41966416G>T | CA367320623 | GLI3 | c.2657C>A (p.Pro886Gln) c.2483C>A (p.Pro828Gln) n.2634C>A c.2480C>A (p.Pro827Gln) c.2654C>A (p.Pro885Gln) | |
| 7 | g.41966417G>A | CA4230555 | GLI3 | c.2656C>T (p.Pro886Ser) c.2482C>T (p.Pro828Ser) n.2633C>T c.2479C>T (p.Pro827Ser) c.2653C>T (p.Pro885Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966417G>C | CA367320625 | GLI3 | c.2656C>G (p.Pro886Ala) c.2482C>G (p.Pro828Ala) n.2633C>G c.2479C>G (p.Pro827Ala) c.2653C>G (p.Pro885Ala) | |
| 7 | g.41966417G= | CA1702661290 | GLI3 | c.2656C= (p.Pro886=) c.2482C= (p.Pro828=) n.2633C= c.2479C= (p.Pro827=) c.2653C= (p.Pro885=) | |
| 7 | g.41966417G>T | CA367320624 | GLI3 | c.2656C>A (p.Pro886Thr) c.2482C>A (p.Pro828Thr) n.2633C>A c.2479C>A (p.Pro827Thr) c.2653C>A (p.Pro885Thr) | COSMIC |
| 7 | g.41966418C>A | CA454662645 | GLI3 | c.2655G>T (p.Arg885=) c.2481G>T (p.Arg827=) n.2632G>T c.2478G>T (p.Arg826=) c.2652G>T (p.Arg884=) | |
| 7 | g.41966418C= | CA1702661291 | GLI3 | c.2655G= (p.Arg885=) c.2481G= (p.Arg827=) n.2632G= c.2478G= (p.Arg826=) c.2652G= (p.Arg884=) | |
| 7 | g.41966418C>G | CA454662646 | GLI3 | c.2655G>C (p.Arg885=) c.2481G>C (p.Arg827=) n.2632G>C c.2478G>C (p.Arg826=) c.2652G>C (p.Arg884=) | |
| 7 | g.41966418C>T | CA454662648 | GLI3 | c.2655G>A (p.Arg885=) c.2481G>A (p.Arg827=) n.2632G>A c.2478G>A (p.Arg826=) c.2652G>A (p.Arg884=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966419C>A | CA367320626 | GLI3 | c.2654G>T (p.Arg885Leu) c.2480G>T (p.Arg827Leu) n.2631G>T c.2477G>T (p.Arg826Leu) c.2651G>T (p.Arg884Leu) | gnomAD v4 COSMIC |
| 7 | g.41966419C= | CA1702661292 | GLI3 | c.2654G= (p.Arg885=) c.2480G= (p.Arg827=) n.2631G= c.2477G= (p.Arg826=) c.2651G= (p.Arg884=) | |
| 7 | g.41966419C>G | CA367320627 | GLI3 | c.2654G>C (p.Arg885Pro) c.2480G>C (p.Arg827Pro) n.2631G>C c.2477G>C (p.Arg826Pro) c.2651G>C (p.Arg884Pro) | |
| 7 | g.41966419C>T | CA4230556 | GLI3 | c.2654G>A (p.Arg885Gln) c.2480G>A (p.Arg827Gln) n.2631G>A c.2477G>A (p.Arg826Gln) c.2651G>A (p.Arg884Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966420G>A | CA367320628 | GLI3 | c.2653C>T (p.Arg885Trp) c.2479C>T (p.Arg827Trp) n.2630C>T c.2476C>T (p.Arg826Trp) c.2650C>T (p.Arg884Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966420G>C | CA367320629 | GLI3 | c.2653C>G (p.Arg885Gly) c.2479C>G (p.Arg827Gly) n.2630C>G c.2476C>G (p.Arg826Gly) c.2650C>G (p.Arg884Gly) | |
| 7 | g.41966420G= | CA1702661293 | GLI3 | c.2653C= (p.Arg885=) c.2479C= (p.Arg827=) n.2630C= c.2476C= (p.Arg826=) c.2650C= (p.Arg884=) | |
| 7 | g.41966420G>T | CA454662649 | GLI3 | c.2653C>A (p.Arg885=) c.2479C>A (p.Arg827=) n.2630C>A c.2476C>A (p.Arg826=) c.2650C>A (p.Arg884=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966421_41966432del | CA2682510201 | GLI3 | c.2642_2653del (p.Gln881_Gly884del) c.2468_2479del (p.Gln823_Gly826del) n.2619_2630del c.2465_2476del (p.Gln822_Gly825del) c.2639_2650del (p.Gln880_Gly883del) | gnomAD v4 |
| 7 | g.41966421G>A | CA10604298 | GLI3 | c.2652C>T (p.Gly884=) c.2478C>T (p.Gly826=) n.2629C>T c.2475C>T (p.Gly825=) c.2649C>T (p.Gly883=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966421G>C | CA454662651 | GLI3 | c.2652C>G (p.Gly884=) c.2478C>G (p.Gly826=) n.2629C>G c.2475C>G (p.Gly825=) c.2649C>G (p.Gly883=) | gnomAD v4 |
| 7 | g.41966421G= | CA1702661294 | GLI3 | c.2652C= (p.Gly884=) c.2478C= (p.Gly826=) n.2629C= c.2475C= (p.Gly825=) c.2649C= (p.Gly883=) | |
| 7 | g.41966421G>T | CA454662650 | GLI3 | c.2652C>A (p.Gly884=) c.2478C>A (p.Gly826=) n.2629C>A c.2475C>A (p.Gly825=) c.2649C>A (p.Gly883=) | |
| 7 | g.41966422C>A | CA367320630 | GLI3 | c.2651G>T (p.Gly884Val) c.2477G>T (p.Gly826Val) n.2628G>T c.2474G>T (p.Gly825Val) c.2648G>T (p.Gly883Val) | |
| 7 | g.41966422C= | CA1702661295 | GLI3 | c.2651G= (p.Gly884=) c.2477G= (p.Gly826=) n.2628G= c.2474G= (p.Gly825=) c.2648G= (p.Gly883=) | |
| 7 | g.41966422C>G | CA367320631 | GLI3 | c.2651G>C (p.Gly884Ala) c.2477G>C (p.Gly826Ala) n.2628G>C c.2474G>C (p.Gly825Ala) c.2648G>C (p.Gly883Ala) | |
| 7 | g.41966422C>T | CA367320632 | GLI3 | c.2651G>A (p.Gly884Asp) c.2477G>A (p.Gly826Asp) n.2628G>A c.2474G>A (p.Gly825Asp) c.2648G>A (p.Gly883Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966423C>A | CA367320633 | GLI3 | c.2650G>T (p.Gly884Cys) c.2476G>T (p.Gly826Cys) n.2627G>T c.2473G>T (p.Gly825Cys) c.2647G>T (p.Gly883Cys) | |
| 7 | g.41966423C>G | CA367320634 | GLI3 | c.2650G>C (p.Gly884Arg) c.2476G>C (p.Gly826Arg) n.2627G>C c.2473G>C (p.Gly825Arg) c.2647G>C (p.Gly883Arg) | |
| 7 | g.41966423C>T | CA367320635 | GLI3 | c.2650G>A (p.Gly884Ser) c.2476G>A (p.Gly826Ser) n.2627G>A c.2473G>A (p.Gly825Ser) c.2647G>A (p.Gly883Ser) | gnomAD v4 |
| 7 | g.41966424C>A | CA367320636 | GLI3 | c.2649G>T (p.Glu883Asp) c.2475G>T (p.Glu825Asp) n.2626G>T c.2472G>T (p.Glu824Asp) c.2646G>T (p.Glu882Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966424C= | CA1702661296 | GLI3 | c.2649G= (p.Glu883=) c.2475G= (p.Glu825=) n.2626G= c.2472G= (p.Glu824=) c.2646G= (p.Glu882=) | |
| 7 | g.41966424C>G | CA367320637 | GLI3 | c.2649G>C (p.Glu883Asp) c.2475G>C (p.Glu825Asp) n.2626G>C c.2472G>C (p.Glu824Asp) c.2646G>C (p.Glu882Asp) | gnomAD v4 |
| 7 | g.41966424C>T | CA454662653 | GLI3 | c.2649G>A (p.Glu883=) c.2475G>A (p.Glu825=) n.2626G>A c.2472G>A (p.Glu824=) c.2646G>A (p.Glu882=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966425T>A | CA367320639 | GLI3 | c.2648A>T (p.Glu883Val) c.2474A>T (p.Glu825Val) n.2625A>T c.2471A>T (p.Glu824Val) c.2645A>T (p.Glu882Val) | |
| 7 | g.41966425T>C | CA367320640 | GLI3 | c.2648A>G (p.Glu883Gly) c.2474A>G (p.Glu825Gly) n.2625A>G c.2471A>G (p.Glu824Gly) c.2645A>G (p.Glu882Gly) | |
| 7 | g.41966425T>G | CA367320638 | GLI3 | c.2648A>C (p.Glu883Ala) c.2474A>C (p.Glu825Ala) n.2625A>C c.2471A>C (p.Glu824Ala) c.2645A>C (p.Glu882Ala) | |
| 7 | g.41966426C>A | CA367320641 | GLI3 | c.2647G>T (p.Glu883Ter) c.2473G>T (p.Glu825Ter) n.2624G>T c.2470G>T (p.Glu824Ter) c.2644G>T (p.Glu882Ter) | ClinVar dbSNP |
| 7 | g.41966426C= | CA1702661297 | GLI3 | c.2647G= (p.Glu883=) c.2473G= (p.Glu825=) n.2624G= c.2470G= (p.Glu824=) c.2644G= (p.Glu882=) | |
| 7 | g.41966426C>G | CA367320642 | GLI3 | c.2647G>C (p.Glu883Gln) c.2473G>C (p.Glu825Gln) n.2624G>C c.2470G>C (p.Glu824Gln) c.2644G>C (p.Glu882Gln) | |
| 7 | g.41966426C>T | CA367320643 | GLI3 | c.2647G>A (p.Glu883Lys) c.2473G>A (p.Glu825Lys) n.2624G>A c.2470G>A (p.Glu824Lys) c.2644G>A (p.Glu882Lys) | dbSNP gnomAD v4 COSMIC |
| 7 | g.41966427G>A | CA454662654 | GLI3 | c.2646C>T (p.Ala882=) c.2472C>T (p.Ala824=) n.2623C>T c.2469C>T (p.Ala823=) c.2643C>T (p.Ala881=) | gnomAD v4 |
| 7 | g.41966427G>C | CA454662656 | GLI3 | c.2646C>G (p.Ala882=) c.2472C>G (p.Ala824=) n.2623C>G c.2469C>G (p.Ala823=) c.2643C>G (p.Ala881=) | |
| 7 | g.41966427G>T | CA454662657 | GLI3 | c.2646C>A (p.Ala882=) c.2472C>A (p.Ala824=) n.2623C>A c.2469C>A (p.Ala823=) c.2643C>A (p.Ala881=) | |
| 7 | g.41966428G>A | CA367320644 | GLI3 | c.2645C>T (p.Ala882Val) c.2471C>T (p.Ala824Val) n.2622C>T c.2468C>T (p.Ala823Val) c.2642C>T (p.Ala881Val) | gnomAD v4 |
| 7 | g.41966428G>C | CA367320645 | GLI3 | c.2645C>G (p.Ala882Gly) c.2471C>G (p.Ala824Gly) n.2622C>G c.2468C>G (p.Ala823Gly) c.2642C>G (p.Ala881Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966428G= | CA1702661298 | GLI3 | c.2645C= (p.Ala882=) c.2471C= (p.Ala824=) n.2622C= c.2468C= (p.Ala823=) c.2642C= (p.Ala881=) | |
| 7 | g.41966428G>T | CA367320646 | GLI3 | c.2645C>A (p.Ala882Asp) c.2471C>A (p.Ala824Asp) n.2622C>A c.2468C>A (p.Ala823Asp) c.2642C>A (p.Ala881Asp) | |
| 7 | g.41966429C>A | CA367320647 | GLI3 | c.2644G>T (p.Ala882Ser) c.2470G>T (p.Ala824Ser) n.2621G>T c.2467G>T (p.Ala823Ser) c.2641G>T (p.Ala881Ser) | |
| 7 | g.41966429C>G | CA367320648 | GLI3 | c.2644G>C (p.Ala882Pro) c.2470G>C (p.Ala824Pro) n.2621G>C c.2467G>C (p.Ala823Pro) c.2641G>C (p.Ala881Pro) | |
| 7 | g.41966429C>T | CA367320649 | GLI3 | c.2644G>A (p.Ala882Thr) c.2470G>A (p.Ala824Thr) n.2621G>A c.2467G>A (p.Ala823Thr) c.2641G>A (p.Ala881Thr) | |
| 7 | g.41966430C>A | CA367320650 | GLI3 | c.2643G>T (p.Gln881His) c.2469G>T (p.Gln823His) n.2620G>T c.2466G>T (p.Gln822His) c.2640G>T (p.Gln880His) | |
| 7 | g.41966430C= | CA1702661299 | GLI3 | c.2643G= (p.Gln881=) c.2469G= (p.Gln823=) n.2620G= c.2466G= (p.Gln822=) c.2640G= (p.Gln880=) | |
| 7 | g.41966430C>G | CA4230557 | GLI3 | c.2643G>C (p.Gln881His) c.2469G>C (p.Gln823His) n.2620G>C c.2466G>C (p.Gln822His) c.2640G>C (p.Gln880His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966430C>T | CA454662660 | GLI3 | c.2643G>A (p.Gln881=) c.2469G>A (p.Gln823=) n.2620G>A c.2466G>A (p.Gln822=) c.2640G>A (p.Gln880=) | |
| 7 | g.41966431T>A | CA367320652 | GLI3 | c.2642A>T (p.Gln881Leu) c.2468A>T (p.Gln823Leu) n.2619A>T c.2465A>T (p.Gln822Leu) c.2639A>T (p.Gln880Leu) | gnomAD v4 |
| 7 | g.41966431T>C | CA4230558 | GLI3 | c.2642A>G (p.Gln881Arg) c.2468A>G (p.Gln823Arg) n.2619A>G c.2465A>G (p.Gln822Arg) c.2639A>G (p.Gln880Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966431T>G | CA367320651 | GLI3 | c.2642A>C (p.Gln881Pro) c.2468A>C (p.Gln823Pro) n.2619A>C c.2465A>C (p.Gln822Pro) c.2639A>C (p.Gln880Pro) | |
| 7 | g.41966431T= | CA1702661300 | GLI3 | c.2642A= (p.Gln881=) c.2468A= (p.Gln823=) n.2619A= c.2465A= (p.Gln822=) c.2639A= (p.Gln880=) | |
| 7 | g.41966433_41966434dup | CA2695207664 | GLI3 | c.2641_2642dup (p.Gln881HisfsTer10) c.2467_2468dup (p.Gln823HisfsTer10) n.2618_2619dup c.2464_2465dup (p.Gln822HisfsTer10) c.2638_2639dup (p.Gln880HisfsTer10) | |
| 7 | g.41966432G>A | CA367320653 | GLI3 | c.2641C>T (p.Gln881Ter) c.2467C>T (p.Gln823Ter) n.2618C>T c.2464C>T (p.Gln822Ter) c.2638C>T (p.Gln880Ter) | |
| 7 | g.41966432G>C | CA367320654 | GLI3 | c.2641C>G (p.Gln881Glu) c.2467C>G (p.Gln823Glu) n.2618C>G c.2464C>G (p.Gln822Glu) c.2638C>G (p.Gln880Glu) | |
| 7 | g.41966432G>T | CA367320655 | GLI3 | c.2641C>A (p.Gln881Lys) c.2467C>A (p.Gln823Lys) n.2618C>A c.2464C>A (p.Gln822Lys) c.2638C>A (p.Gln880Lys) | |
| 7 | g.41966433T>A | CA454662664 | GLI3 | c.2640A>T (p.Ser880=) c.2466A>T (p.Ser822=) n.2617A>T c.2463A>T (p.Ser821=) c.2637A>T (p.Ser879=) | gnomAD v4 |
| 7 | g.41966433T>C | CA454662665 | GLI3 | c.2640A>G (p.Ser880=) c.2466A>G (p.Ser822=) n.2617A>G c.2463A>G (p.Ser821=) c.2637A>G (p.Ser879=) | |
| 7 | g.41966433T>G | CA454662666 | GLI3 | c.2640A>C (p.Ser880=) c.2466A>C (p.Ser822=) n.2617A>C c.2463A>C (p.Ser821=) c.2637A>C (p.Ser879=) | |
| 7 | g.41966433T= | CA1702661301 | GLI3 | c.2640A= (p.Ser880=) c.2466A= (p.Ser822=) n.2617A= c.2463A= (p.Ser821=) c.2637A= (p.Ser879=) | |
| 7 | g.41966434G>A | CA367320656 | GLI3 | c.2639C>T (p.Ser880Leu) c.2465C>T (p.Ser822Leu) n.2616C>T c.2462C>T (p.Ser821Leu) c.2636C>T (p.Ser879Leu) | |
| 7 | g.41966434G>C | CA367320657 | GLI3 | c.2639C>G (p.Ser880Ter) c.2465C>G (p.Ser822Ter) n.2616C>G c.2462C>G (p.Ser821Ter) c.2636C>G (p.Ser879Ter) | |
| 7 | g.41966434G>T | CA367320658 | GLI3 | c.2639C>A (p.Ser880Ter) c.2465C>A (p.Ser822Ter) n.2616C>A c.2462C>A (p.Ser821Ter) c.2636C>A (p.Ser879Ter) | |
| 7 | g.41966435_41966437dup | CA4230559 | GLI3 | c.2637_2639dup (p.Ser880_Gln881insSer) c.2463_2465dup (p.Ser822_Gln823insSer) n.2614_2616dup c.2460_2462dup (p.Ser821_Gln822insSer) c.2634_2636dup (p.Ser879_Gln880insSer) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966435A>C | CA367320659 | GLI3 | c.2638T>G (p.Ser880Ala) c.2464T>G (p.Ser822Ala) n.2615T>G c.2461T>G (p.Ser821Ala) c.2635T>G (p.Ser879Ala) | |
| 7 | g.41966435A>G | CA367320660 | GLI3 | c.2638T>C (p.Ser880Pro) c.2464T>C (p.Ser822Pro) n.2615T>C c.2461T>C (p.Ser821Pro) c.2635T>C (p.Ser879Pro) | |
| 7 | g.41966435A>T | CA367320661 | GLI3 | c.2638T>A (p.Ser880Thr) c.2464T>A (p.Ser822Thr) n.2615T>A c.2461T>A (p.Ser821Thr) c.2635T>A (p.Ser879Thr) | |
| 7 | g.41966436C>A | CA454662668 | GLI3 | c.2637G>T (p.Ala879=) c.2463G>T (p.Ala821=) n.2614G>T c.2460G>T (p.Ala820=) c.2634G>T (p.Ala878=) | |
| 7 | g.41966436C= | CA1702661302 | GLI3 | c.2637G= (p.Ala879=) c.2463G= (p.Ala821=) n.2614G= c.2460G= (p.Ala820=) c.2634G= (p.Ala878=) | |
| 7 | g.41966436C>G | CA454662669 | GLI3 | c.2637G>C (p.Ala879=) c.2463G>C (p.Ala821=) n.2614G>C c.2460G>C (p.Ala820=) c.2634G>C (p.Ala878=) | |
| 7 | g.41966436C>T | CA454662670 | GLI3 | c.2637G>A (p.Ala879=) c.2463G>A (p.Ala821=) n.2614G>A c.2460G>A (p.Ala820=) c.2634G>A (p.Ala878=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966437G>A | CA367320662 | GLI3 | c.2636C>T (p.Ala879Val) c.2462C>T (p.Ala821Val) n.2613C>T c.2459C>T (p.Ala820Val) c.2633C>T (p.Ala878Val) | gnomAD v4 COSMIC |
| 7 | g.41966437G>C | CA367320663 | GLI3 | c.2636C>G (p.Ala879Gly) c.2462C>G (p.Ala821Gly) n.2613C>G c.2459C>G (p.Ala820Gly) c.2633C>G (p.Ala878Gly) | |
| 7 | g.41966437G>T | CA367320664 | GLI3 | c.2636C>A (p.Ala879Glu) c.2462C>A (p.Ala821Glu) n.2613C>A c.2459C>A (p.Ala820Glu) c.2633C>A (p.Ala878Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966438C>A | CA367320665 | GLI3 | c.2635G>T (p.Ala879Ser) c.2461G>T (p.Ala821Ser) n.2612G>T c.2458G>T (p.Ala820Ser) c.2632G>T (p.Ala878Ser) | dbSNP gnomAD v4 |
| 7 | g.41966438C= | CA1702661303 | GLI3 | c.2635G= (p.Ala879=) c.2461G= (p.Ala821=) n.2612G= c.2458G= (p.Ala820=) c.2632G= (p.Ala878=) | |
| 7 | g.41966438C>G | CA367320666 | GLI3 | c.2635G>C (p.Ala879Pro) c.2461G>C (p.Ala821Pro) n.2612G>C c.2458G>C (p.Ala820Pro) c.2632G>C (p.Ala878Pro) | |
| 7 | g.41966438C>T | CA4230560 | GLI3 | c.2635G>A (p.Ala879Thr) c.2461G>A (p.Ala821Thr) n.2612G>A c.2458G>A (p.Ala820Thr) c.2632G>A (p.Ala878Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966439C>A | CA367320668 | GLI3 | c.2634G>T (p.Glu878Asp) c.2460G>T (p.Glu820Asp) n.2611G>T c.2457G>T (p.Glu819Asp) c.2631G>T (p.Glu877Asp) | |
| 7 | g.41966439C= | CA1702661304 | GLI3 | c.2634G= (p.Glu878=) c.2460G= (p.Glu820=) n.2611G= c.2457G= (p.Glu819=) c.2631G= (p.Glu877=) | |
| 7 | g.41966439C>G | CA367320667 | GLI3 | c.2634G>C (p.Glu878Asp) c.2460G>C (p.Glu820Asp) n.2611G>C c.2457G>C (p.Glu819Asp) c.2631G>C (p.Glu877Asp) | |
| 7 | g.41966439C>T | CA454662672 | GLI3 | c.2634G>A (p.Glu878=) c.2460G>A (p.Glu820=) n.2611G>A c.2457G>A (p.Glu819=) c.2631G>A (p.Glu877=) | dbSNP gnomAD v4 |
| 7 | g.41966440T>A | CA367320669 | GLI3 | c.2633A>T (p.Glu878Val) c.2459A>T (p.Glu820Val) n.2610A>T c.2456A>T (p.Glu819Val) c.2630A>T (p.Glu877Val) | |
| 7 | g.41966440T>C | CA367320670 | GLI3 | c.2633A>G (p.Glu878Gly) c.2459A>G (p.Glu820Gly) n.2610A>G c.2456A>G (p.Glu819Gly) c.2630A>G (p.Glu877Gly) | |
| 7 | g.41966440T>G | CA367320671 | GLI3 | c.2633A>C (p.Glu878Ala) c.2459A>C (p.Glu820Ala) n.2610A>C c.2456A>C (p.Glu819Ala) c.2630A>C (p.Glu877Ala) | |
| 7 | g.41966441del | CA2580077127 | GLI3 | c.2632del (p.Glu878ArgfsTer12) c.2458del (p.Glu820ArgfsTer12) n.2609del c.2455del (p.Glu819ArgfsTer12) c.2629del (p.Glu877ArgfsTer12) | ClinVar |
| 7 | g.41966441C>A | CA367320672 | GLI3 | c.2632G>T (p.Glu878Ter) c.2458G>T (p.Glu820Ter) n.2609G>T c.2455G>T (p.Glu819Ter) c.2629G>T (p.Glu877Ter) | |
| 7 | g.41966441C>G | CA367320673 | GLI3 | c.2632G>C (p.Glu878Gln) c.2458G>C (p.Glu820Gln) n.2609G>C c.2455G>C (p.Glu819Gln) c.2629G>C (p.Glu877Gln) | gnomAD v3 gnomAD v4 |
| 7 | g.41966441C>T | CA367320674 | GLI3 | c.2632G>A (p.Glu878Lys) c.2458G>A (p.Glu820Lys) n.2609G>A c.2455G>A (p.Glu819Lys) c.2629G>A (p.Glu877Lys) | gnomAD v4 COSMIC |
| 7 | g.41966442G>A | CA454662676 | GLI3 | c.2631C>T (p.Ser877=) c.2457C>T (p.Ser819=) n.2608C>T c.2454C>T (p.Ser818=) c.2628C>T (p.Ser876=) | dbSNP |
| 7 | g.41966442G>C | CA367320676 | GLI3 | c.2631C>G (p.Ser877Arg) c.2457C>G (p.Ser819Arg) n.2608C>G c.2454C>G (p.Ser818Arg) c.2628C>G (p.Ser876Arg) | |
| 7 | g.41966442G= | CA1702661305 | GLI3 | c.2631C= (p.Ser877=) c.2457C= (p.Ser819=) n.2608C= c.2454C= (p.Ser818=) c.2628C= (p.Ser876=) | |
| 7 | g.41966442G>T | CA367320675 | GLI3 | c.2631C>A (p.Ser877Arg) c.2457C>A (p.Ser819Arg) n.2608C>A c.2454C>A (p.Ser818Arg) c.2628C>A (p.Ser876Arg) | gnomAD v4 |
| 7 | g.41966443C>A | CA367320677 | GLI3 | c.2630G>T (p.Ser877Ile) c.2456G>T (p.Ser819Ile) n.2607G>T c.2453G>T (p.Ser818Ile) c.2627G>T (p.Ser876Ile) | |
| 7 | g.41966443C>G | CA367320678 | GLI3 | c.2630G>C (p.Ser877Thr) c.2456G>C (p.Ser819Thr) n.2607G>C c.2453G>C (p.Ser818Thr) c.2627G>C (p.Ser876Thr) | |
| 7 | g.41966443C>T | CA367320679 | GLI3 | c.2630G>A (p.Ser877Asn) c.2456G>A (p.Ser819Asn) n.2607G>A c.2453G>A (p.Ser818Asn) c.2627G>A (p.Ser876Asn) | |
| 7 | g.41966444T>A | CA367320680 | GLI3 | c.2629A>T (p.Ser877Cys) c.2455A>T (p.Ser819Cys) n.2606A>T c.2452A>T (p.Ser818Cys) c.2626A>T (p.Ser876Cys) | |
| 7 | g.41966444T>C | CA367320681 | GLI3 | c.2629A>G (p.Ser877Gly) c.2455A>G (p.Ser819Gly) n.2606A>G c.2452A>G (p.Ser818Gly) c.2626A>G (p.Ser876Gly) | |
| 7 | g.41966444T>G | CA367320682 | GLI3 | c.2629A>C (p.Ser877Arg) c.2455A>C (p.Ser819Arg) n.2606A>C c.2452A>C (p.Ser818Arg) c.2626A>C (p.Ser876Arg) | |
| 7 | g.41966444T= | CA1702661307 | GLI3 | c.2629A= (p.Ser877=) c.2455A= (p.Ser819=) n.2606A= c.2452A= (p.Ser818=) c.2626A= (p.Ser876=) | |
| 7 | g.41966444_41966445delinsTG | CA1702661306 | GLI3 | c.2628_2629delinsCA (p.Ser876=) c.2454_2455delinsCA (p.Ser818=) n.2605_2606delinsCA c.2451_2452delinsCA (p.Ser817=) c.2625_2626delinsCA (p.Ser875=) | |
| 7 | g.41966445G>A | CA454662680 | GLI3 | c.2628C>T (p.Ser876=) c.2454C>T (p.Ser818=) n.2605C>T c.2451C>T (p.Ser817=) c.2625C>T (p.Ser875=) | gnomAD v4 |
| 7 | g.41966445G>C | CA454662681 | GLI3 | c.2628C>G (p.Ser876=) c.2454C>G (p.Ser818=) n.2605C>G c.2451C>G (p.Ser817=) c.2625C>G (p.Ser875=) | |
| 7 | g.41966445G>T | CA454662682 | GLI3 | c.2628C>A (p.Ser876=) c.2454C>A (p.Ser818=) n.2605C>A c.2451C>A (p.Ser817=) c.2625C>A (p.Ser875=) | |
| 7 | g.41966446del | CA342935 | GLI3 | c.2628del (p.Ser877AlafsTer13) c.2454del (p.Ser819AlafsTer13) n.2605del c.2451del (p.Ser818AlafsTer13) c.2625del (p.Ser876AlafsTer13) | dbSNP |
| 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.41966446G>A | CA367320683 | GLI3 | c.2627C>T (p.Ser876Phe) c.2453C>T (p.Ser818Phe) n.2604C>T c.2450C>T (p.Ser817Phe) c.2624C>T (p.Ser875Phe) | gnomAD v4 |
| 7 | g.41966446G>C | CA367320685 | GLI3 | c.2627C>G (p.Ser876Cys) c.2453C>G (p.Ser818Cys) n.2604C>G c.2450C>G (p.Ser817Cys) c.2624C>G (p.Ser875Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966446G= | CA1702661309 | GLI3 | c.2627C= (p.Ser876=) c.2453C= (p.Ser818=) n.2604C= c.2450C= (p.Ser817=) c.2624C= (p.Ser875=) | |
| 7 | g.41966446G>T | CA367320684 | GLI3 | c.2627C>A (p.Ser876Tyr) c.2453C>A (p.Ser818Tyr) n.2604C>A c.2450C>A (p.Ser817Tyr) c.2624C>A (p.Ser875Tyr) | gnomAD v4 |