| 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 |