Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108208692T>A | CA484781558 | LIG4 | c.2376A>T (p.Gly792=) c.2577A>T (p.Gly859=) c.2613A>T (p.Gly871=) c.2589A>T (p.Gly863=) | gnomAD v4 |
13 | g.108208692T>C | CA484781556 | LIG4 | c.2376A>G (p.Gly792=) c.2577A>G (p.Gly859=) c.2613A>G (p.Gly871=) c.2589A>G (p.Gly863=) | |
13 | g.108208692T>G | CA484781557 | LIG4 | c.2376A>C (p.Gly792=) c.2577A>C (p.Gly859=) c.2613A>C (p.Gly871=) c.2589A>C (p.Gly863=) | |
13 | g.108208693C>A | CA7043469 | LIG4 | c.2375G>T (p.Gly792Val) c.2576G>T (p.Gly859Val) c.2612G>T (p.Gly871Val) c.2588G>T (p.Gly863Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208693C= | CA2117793871 | LIG4 | c.2375G= (p.Gly792=) c.2576G= (p.Gly859=) c.2612G= (p.Gly871=) c.2588G= (p.Gly863=) | |
13 | g.108208693C>G | CA388610729 | LIG4 | c.2375G>C (p.Gly792Ala) c.2576G>C (p.Gly859Ala) c.2612G>C (p.Gly871Ala) c.2588G>C (p.Gly863Ala) | dbSNP |
13 | g.108208693C>T | CA388610730 | LIG4 | c.2375G>A (p.Gly792Glu) c.2576G>A (p.Gly859Glu) c.2612G>A (p.Gly871Glu) c.2588G>A (p.Gly863Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208694C>A | CA388610731 | LIG4 | c.2374G>T (p.Gly792Ter) c.2575G>T (p.Gly859Ter) c.2611G>T (p.Gly871Ter) c.2587G>T (p.Gly863Ter) | |
13 | g.108208694C= | CA2117793872 | LIG4 | c.2374G= (p.Gly792=) c.2575G= (p.Gly859=) c.2611G= (p.Gly871=) c.2587G= (p.Gly863=) | |
13 | g.108208694C>G | CA388610732 | LIG4 | c.2374G>C (p.Gly792Arg) c.2575G>C (p.Gly859Arg) c.2611G>C (p.Gly871Arg) c.2587G>C (p.Gly863Arg) | dbSNP |
13 | g.108208694C>T | CA388610733 | LIG4 | c.2374G>A (p.Gly792Arg) c.2575G>A (p.Gly859Arg) c.2611G>A (p.Gly871Arg) c.2587G>A (p.Gly863Arg) | dbSNP |
13 | g.108208695C>A | CA388610735 | LIG4 | c.2373G>T (p.Glu791Asp) c.2574G>T (p.Glu858Asp) c.2610G>T (p.Glu870Asp) c.2586G>T (p.Glu862Asp) | |
13 | g.108208695C>G | CA388610734 | LIG4 | c.2373G>C (p.Glu791Asp) c.2574G>C (p.Glu858Asp) c.2610G>C (p.Glu870Asp) c.2586G>C (p.Glu862Asp) | |
13 | g.108208695C>T | CA484781559 | LIG4 | c.2373G>A (p.Glu791=) c.2574G>A (p.Glu858=) c.2610G>A (p.Glu870=) c.2586G>A (p.Glu862=) | |
13 | g.108208696T>A | CA388610736 | LIG4 | c.2372A>T (p.Glu791Val) c.2573A>T (p.Glu858Val) c.2609A>T (p.Glu870Val) c.2585A>T (p.Glu862Val) | |
13 | g.108208696T>C | CA388610737 | LIG4 | c.2372A>G (p.Glu791Gly) c.2573A>G (p.Glu858Gly) c.2609A>G (p.Glu870Gly) c.2585A>G (p.Glu862Gly) | |
13 | g.108208696T>G | CA388610738 | LIG4 | c.2372A>C (p.Glu791Ala) c.2573A>C (p.Glu858Ala) c.2609A>C (p.Glu870Ala) c.2585A>C (p.Glu862Ala) | |
13 | g.108208697C>A | CA388610741 | LIG4 | c.2371G>T (p.Glu791Ter) c.2572G>T (p.Glu858Ter) c.2608G>T (p.Glu870Ter) c.2584G>T (p.Glu862Ter) | gnomAD v4 |
13 | g.108208697C>G | CA388610743 | LIG4 | c.2371G>C (p.Glu791Gln) c.2572G>C (p.Glu858Gln) c.2608G>C (p.Glu870Gln) c.2584G>C (p.Glu862Gln) | |
13 | g.108208697C>T | CA388610744 | LIG4 | c.2371G>A (p.Glu791Lys) c.2572G>A (p.Glu858Lys) c.2608G>A (p.Glu870Lys) c.2584G>A (p.Glu862Lys) | gnomAD v4 |
13 | g.108208698A>C | CA484781562 | LIG4 | c.2370T>G (p.Ala790=) c.2571T>G (p.Ala857=) c.2607T>G (p.Ala869=) c.2583T>G (p.Ala861=) | |
13 | g.108208698A>G | CA484781560 | LIG4 | c.2370T>C (p.Ala790=) c.2571T>C (p.Ala857=) c.2607T>C (p.Ala869=) c.2583T>C (p.Ala861=) | |
13 | g.108208698A>T | CA484781561 | LIG4 | c.2370T>A (p.Ala790=) c.2571T>A (p.Ala857=) c.2607T>A (p.Ala869=) c.2583T>A (p.Ala861=) | |
13 | g.108208699G>A | CA388610747 | LIG4 | c.2369C>T (p.Ala790Val) c.2570C>T (p.Ala857Val) c.2606C>T (p.Ala869Val) c.2582C>T (p.Ala861Val) | |
13 | g.108208699G>C | CA388610748 | LIG4 | c.2369C>G (p.Ala790Gly) c.2570C>G (p.Ala857Gly) c.2606C>G (p.Ala869Gly) c.2582C>G (p.Ala861Gly) | |
13 | g.108208699G>T | CA388610750 | LIG4 | c.2369C>A (p.Ala790Asp) c.2570C>A (p.Ala857Asp) c.2606C>A (p.Ala869Asp) c.2582C>A (p.Ala861Asp) | |
13 | g.108208700C>A | CA388610752 | LIG4 | c.2368G>T (p.Ala790Ser) c.2569G>T (p.Ala857Ser) c.2605G>T (p.Ala869Ser) c.2581G>T (p.Ala861Ser) | |
13 | g.108208700C= | CA2117793873 | LIG4 | c.2368G= (p.Ala790=) c.2569G= (p.Ala857=) c.2605G= (p.Ala869=) c.2581G= (p.Ala861=) | |
13 | g.108208700C>G | CA388610754 | LIG4 | c.2368G>C (p.Ala790Pro) c.2569G>C (p.Ala857Pro) c.2605G>C (p.Ala869Pro) c.2581G>C (p.Ala861Pro) | |
13 | g.108208700C>T | CA7043470 | LIG4 | c.2368G>A (p.Ala790Thr) c.2569G>A (p.Ala857Thr) c.2605G>A (p.Ala869Thr) c.2581G>A (p.Ala861Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208701T>A | CA388610760 | LIG4 | c.2367A>T (p.Leu789Phe) c.2568A>T (p.Leu856Phe) c.2604A>T (p.Leu868Phe) c.2580A>T (p.Leu860Phe) | |
13 | g.108208701T>C | CA484781563 | LIG4 | c.2367A>G (p.Leu789=) c.2568A>G (p.Leu856=) c.2604A>G (p.Leu868=) c.2580A>G (p.Leu860=) | |
13 | g.108208701T>G | CA388610758 | LIG4 | c.2367A>C (p.Leu789Phe) c.2568A>C (p.Leu856Phe) c.2604A>C (p.Leu868Phe) c.2580A>C (p.Leu860Phe) | |
13 | g.108208702A= | CA2117793874 | LIG4 | c.2366T= (p.Leu789=) c.2567T= (p.Leu856=) c.2603T= (p.Leu868=) c.2579T= (p.Leu860=) | |
13 | g.108208702A>C | CA388610762 | LIG4 | c.2366T>G (p.Leu789Ter) c.2567T>G (p.Leu856Ter) c.2603T>G (p.Leu868Ter) c.2579T>G (p.Leu860Ter) | |
13 | g.108208702A>G | CA388610766 | LIG4 | c.2366T>C (p.Leu789Ser) c.2567T>C (p.Leu856Ser) c.2603T>C (p.Leu868Ser) c.2579T>C (p.Leu860Ser) | dbSNP gnomAD v4 |
13 | g.108208702A>T | CA388610764 | LIG4 | c.2366T>A (p.Leu789Ter) c.2567T>A (p.Leu856Ter) c.2603T>A (p.Leu868Ter) c.2579T>A (p.Leu860Ter) | |
13 | g.108208703A>C | CA388610768 | LIG4 | c.2365T>G (p.Leu789Val) c.2566T>G (p.Leu856Val) c.2602T>G (p.Leu868Val) c.2578T>G (p.Leu860Val) | |
13 | g.108208703A>G | CA484781564 | LIG4 | c.2365T>C (p.Leu789=) c.2566T>C (p.Leu856=) c.2602T>C (p.Leu868=) c.2578T>C (p.Leu860=) | |
13 | g.108208703A>T | CA388610770 | LIG4 | c.2365T>A (p.Leu789Ile) c.2566T>A (p.Leu856Ile) c.2602T>A (p.Leu868Ile) c.2578T>A (p.Leu860Ile) | |
13 | g.108208704A>C | CA388610772 | LIG4 | c.2364T>G (p.Cys788Trp) c.2565T>G (p.Cys855Trp) c.2601T>G (p.Cys867Trp) c.2577T>G (p.Cys859Trp) | |
13 | g.108208704A>G | CA484781565 | LIG4 | c.2364T>C (p.Cys788=) c.2565T>C (p.Cys855=) c.2601T>C (p.Cys867=) c.2577T>C (p.Cys859=) | |
13 | g.108208704A>T | CA388610775 | LIG4 | c.2364T>A (p.Cys788Ter) c.2565T>A (p.Cys855Ter) c.2601T>A (p.Cys867Ter) c.2577T>A (p.Cys859Ter) | |
13 | g.108208705C>A | CA388610776 | LIG4 | c.2363G>T (p.Cys788Phe) c.2564G>T (p.Cys855Phe) c.2600G>T (p.Cys867Phe) c.2576G>T (p.Cys859Phe) | |
13 | g.108208705C= | CA2117793875 | LIG4 | c.2363G= (p.Cys788=) c.2564G= (p.Cys855=) c.2600G= (p.Cys867=) c.2576G= (p.Cys859=) | |
13 | g.108208705C>G | CA388610778 | LIG4 | c.2363G>C (p.Cys788Ser) c.2564G>C (p.Cys855Ser) c.2600G>C (p.Cys867Ser) c.2576G>C (p.Cys859Ser) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208705C>T | CA388610780 | LIG4 | c.2363G>A (p.Cys788Tyr) c.2564G>A (p.Cys855Tyr) c.2600G>A (p.Cys867Tyr) c.2576G>A (p.Cys859Tyr) | gnomAD v4 |
13 | g.108208706A>C | CA388610782 | LIG4 | c.2362T>G (p.Cys788Gly) c.2563T>G (p.Cys855Gly) c.2599T>G (p.Cys867Gly) c.2575T>G (p.Cys859Gly) | gnomAD v4 |
13 | g.108208706A>G | CA388610785 | LIG4 | c.2362T>C (p.Cys788Arg) c.2563T>C (p.Cys855Arg) c.2599T>C (p.Cys867Arg) c.2575T>C (p.Cys859Arg) | |
13 | g.108208706A>T | CA388610787 | LIG4 | c.2362T>A (p.Cys788Ser) c.2563T>A (p.Cys855Ser) c.2599T>A (p.Cys867Ser) c.2575T>A (p.Cys859Ser) | |
13 | g.108208707A>C | CA484974927 | LIG4 | c.2361T>G (p.Ser787=) c.2562T>G (p.Ser854=) c.2598T>G (p.Ser866=) c.2574T>G (p.Ser858=) | |
13 | g.108208707A>G | CA484974928 | LIG4 | c.2361T>C (p.Ser787=) c.2562T>C (p.Ser854=) c.2598T>C (p.Ser866=) c.2574T>C (p.Ser858=) | |
13 | g.108208707A>T | CA484974929 | LIG4 | c.2361T>A (p.Ser787=) c.2562T>A (p.Ser854=) c.2598T>A (p.Ser866=) c.2574T>A (p.Ser858=) | |
13 | g.108208708G>A | CA388612478 | LIG4 | c.2360C>T (p.Ser787Phe) c.2561C>T (p.Ser854Phe) c.2597C>T (p.Ser866Phe) c.2573C>T (p.Ser858Phe) | COSMIC |
13 | g.108208708G>C | CA388612479 | LIG4 | c.2360C>G (p.Ser787Cys) c.2561C>G (p.Ser854Cys) c.2597C>G (p.Ser866Cys) c.2573C>G (p.Ser858Cys) | dbSNP |
13 | g.108208708G= | CA2117793876 | LIG4 | c.2360C= (p.Ser787=) c.2561C= (p.Ser854=) c.2597C= (p.Ser866=) c.2573C= (p.Ser858=) | |
13 | g.108208708G>T | CA7043471 | LIG4 | c.2360C>A (p.Ser787Tyr) c.2561C>A (p.Ser854Tyr) c.2597C>A (p.Ser866Tyr) c.2573C>A (p.Ser858Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.108208709A>C | CA388612480 | LIG4 | c.2359T>G (p.Ser787Ala) c.2560T>G (p.Ser854Ala) c.2596T>G (p.Ser866Ala) c.2572T>G (p.Ser858Ala) | |
13 | g.108208709A>G | CA388612482 | LIG4 | c.2359T>C (p.Ser787Pro) c.2560T>C (p.Ser854Pro) c.2596T>C (p.Ser866Pro) c.2572T>C (p.Ser858Pro) | gnomAD v4 |
13 | g.108208709A>T | CA388612481 | LIG4 | c.2359T>A (p.Ser787Thr) c.2560T>A (p.Ser854Thr) c.2596T>A (p.Ser866Thr) c.2572T>A (p.Ser858Thr) | |
13 | g.108208710A>C | CA484974930 | LIG4 | c.2358T>G (p.Val786=) c.2559T>G (p.Val853=) c.2595T>G (p.Val865=) c.2571T>G (p.Val857=) | dbSNP |
13 | g.108208710A>G | CA484974931 | LIG4 | c.2358T>C (p.Val786=) c.2559T>C (p.Val853=) c.2595T>C (p.Val865=) c.2571T>C (p.Val857=) | |
13 | g.108208710A>T | CA484974932 | LIG4 | c.2358T>A (p.Val786=) c.2559T>A (p.Val853=) c.2595T>A (p.Val865=) c.2571T>A (p.Val857=) | |
13 | g.108208711A>C | CA388612485 | LIG4 | c.2357T>G (p.Val786Gly) c.2558T>G (p.Val853Gly) c.2594T>G (p.Val865Gly) c.2570T>G (p.Val857Gly) | |
13 | g.108208711A>G | CA388612487 | LIG4 | c.2357T>C (p.Val786Ala) c.2558T>C (p.Val853Ala) c.2594T>C (p.Val865Ala) c.2570T>C (p.Val857Ala) | |
13 | g.108208711A>T | CA388612489 | LIG4 | c.2357T>A (p.Val786Asp) c.2558T>A (p.Val853Asp) c.2594T>A (p.Val865Asp) c.2570T>A (p.Val857Asp) | |
13 | g.108208712C>A | CA388612492 | LIG4 | c.2356G>T (p.Val786Phe) c.2557G>T (p.Val853Phe) c.2593G>T (p.Val865Phe) c.2569G>T (p.Val857Phe) | |
13 | g.108208712C>G | CA388612495 | LIG4 | c.2356G>C (p.Val786Leu) c.2557G>C (p.Val853Leu) c.2593G>C (p.Val865Leu) c.2569G>C (p.Val857Leu) | |
13 | g.108208712C>T | CA388612497 | LIG4 | c.2356G>A (p.Val786Ile) c.2557G>A (p.Val853Ile) c.2593G>A (p.Val865Ile) c.2569G>A (p.Val857Ile) | |
13 | g.108208713T>A | CA484974933 | LIG4 | c.2355A>T (p.Val785=) c.2556A>T (p.Val852=) c.2592A>T (p.Val864=) c.2568A>T (p.Val856=) | |
13 | g.108208713T>C | CA7043472 | LIG4 | c.2355A>G (p.Val785=) c.2556A>G (p.Val852=) c.2592A>G (p.Val864=) c.2568A>G (p.Val856=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208713T>G | CA484974934 | LIG4 | c.2355A>C (p.Val785=) c.2556A>C (p.Val852=) c.2592A>C (p.Val864=) c.2568A>C (p.Val856=) | |
13 | g.108208713T= | CA2117793877 | LIG4 | c.2355A= (p.Val785=) c.2556A= (p.Val852=) c.2592A= (p.Val864=) c.2568A= (p.Val856=) | |
13 | g.108208714A= | CA2117793878 | LIG4 | c.2354T= (p.Val785=) c.2555T= (p.Val852=) c.2591T= (p.Val864=) c.2567T= (p.Val856=) | |
13 | g.108208714A>C | CA388612500 | LIG4 | c.2354T>G (p.Val785Gly) c.2555T>G (p.Val852Gly) c.2591T>G (p.Val864Gly) c.2567T>G (p.Val856Gly) | |
13 | g.108208714A>G | CA388612502 | LIG4 | c.2354T>C (p.Val785Ala) c.2555T>C (p.Val852Ala) c.2591T>C (p.Val864Ala) c.2567T>C (p.Val856Ala) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208714A>T | CA388612505 | LIG4 | c.2354T>A (p.Val785Glu) c.2555T>A (p.Val852Glu) c.2591T>A (p.Val864Glu) c.2567T>A (p.Val856Glu) | |
13 | g.108208715C>A | CA388612511 | LIG4 | c.2353G>T (p.Val785Leu) c.2554G>T (p.Val852Leu) c.2590G>T (p.Val864Leu) c.2566G>T (p.Val856Leu) | |
13 | g.108208715C>G | CA388612509 | LIG4 | c.2353G>C (p.Val785Leu) c.2554G>C (p.Val852Leu) c.2590G>C (p.Val864Leu) c.2566G>C (p.Val856Leu) | gnomAD v4 |
13 | g.108208715C>T | CA388612507 | LIG4 | c.2353G>A (p.Val785Ile) c.2554G>A (p.Val852Ile) c.2590G>A (p.Val864Ile) c.2566G>A (p.Val856Ile) | COSMIC |
13 | g.108208716T>A | CA388612512 | LIG4 | c.2352A>T (p.Lys784Asn) c.2553A>T (p.Lys851Asn) c.2589A>T (p.Lys863Asn) c.2565A>T (p.Lys855Asn) | |
13 | g.108208716T>C | CA484974936 | LIG4 | c.2352A>G (p.Lys784=) c.2553A>G (p.Lys851=) c.2589A>G (p.Lys863=) c.2565A>G (p.Lys855=) | |
13 | g.108208716T>G | CA388612513 | LIG4 | c.2352A>C (p.Lys784Asn) c.2553A>C (p.Lys851Asn) c.2589A>C (p.Lys863Asn) c.2565A>C (p.Lys855Asn) | |
13 | g.108208719del | CA2623644095 | LIG4 | c.2352del (p.Val785Ter) c.2553del (p.Val852Ter) c.2589del (p.Val864Ter) c.2565del (p.Val856Ter) | gnomAD v4 |
13 | g.108208717T>A | CA388612515 | LIG4 | c.2351A>T (p.Lys784Ile) c.2552A>T (p.Lys851Ile) c.2588A>T (p.Lys863Ile) c.2564A>T (p.Lys855Ile) | |
13 | g.108208717T>C | CA388612519 | LIG4 | c.2351A>G (p.Lys784Arg) c.2552A>G (p.Lys851Arg) c.2588A>G (p.Lys863Arg) c.2564A>G (p.Lys855Arg) | |
13 | g.108208717T>G | CA388612532 | LIG4 | c.2351A>C (p.Lys784Thr) c.2552A>C (p.Lys851Thr) c.2588A>C (p.Lys863Thr) c.2564A>C (p.Lys855Thr) | |
13 | g.108208718T>A | CA388612535 | LIG4 | c.2350A>T (p.Lys784Ter) c.2551A>T (p.Lys851Ter) c.2587A>T (p.Lys863Ter) c.2563A>T (p.Lys855Ter) | |
13 | g.108208718T>C | CA388612534 | LIG4 | c.2350A>G (p.Lys784Glu) c.2551A>G (p.Lys851Glu) c.2587A>G (p.Lys863Glu) c.2563A>G (p.Lys855Glu) | |
13 | g.108208718T>G | CA388612533 | LIG4 | c.2350A>C (p.Lys784Gln) c.2551A>C (p.Lys851Gln) c.2587A>C (p.Lys863Gln) c.2563A>C (p.Lys855Gln) | |
13 | g.108208719T>A | CA484974939 | LIG4 | c.2349A>T (p.Ala783=) c.2550A>T (p.Ala850=) c.2586A>T (p.Ala862=) c.2562A>T (p.Ala854=) | |
13 | g.108208719T>C | CA484974940 | LIG4 | c.2349A>G (p.Ala783=) c.2550A>G (p.Ala850=) c.2586A>G (p.Ala862=) c.2562A>G (p.Ala854=) | |
13 | g.108208719T>G | CA484974941 | LIG4 | c.2349A>C (p.Ala783=) c.2550A>C (p.Ala850=) c.2586A>C (p.Ala862=) c.2562A>C (p.Ala854=) | |
13 | g.108208720G>A | CA7043473 | LIG4 | c.2348C>T (p.Ala783Val) c.2549C>T (p.Ala850Val) c.2585C>T (p.Ala862Val) c.2561C>T (p.Ala854Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208720G>C | CA388612540 | LIG4 | c.2348C>G (p.Ala783Gly) c.2549C>G (p.Ala850Gly) c.2585C>G (p.Ala862Gly) c.2561C>G (p.Ala854Gly) | |
13 | g.108208720G= | CA2117793879 | LIG4 | c.2348C= (p.Ala783=) c.2549C= (p.Ala850=) c.2585C= (p.Ala862=) c.2561C= (p.Ala854=) | |
13 | g.108208720G>T | CA388612541 | LIG4 | c.2348C>A (p.Ala783Glu) c.2549C>A (p.Ala850Glu) c.2585C>A (p.Ala862Glu) c.2561C>A (p.Ala854Glu) | |
13 | g.108208721C>A | CA388612544 | LIG4 | c.2347G>T (p.Ala783Ser) c.2548G>T (p.Ala850Ser) c.2584G>T (p.Ala862Ser) c.2560G>T (p.Ala854Ser) | |
13 | g.108208721C>G | CA388612547 | LIG4 | c.2347G>C (p.Ala783Pro) c.2548G>C (p.Ala850Pro) c.2584G>C (p.Ala862Pro) c.2560G>C (p.Ala854Pro) | |
13 | g.108208721C>T | CA388612549 | LIG4 | c.2347G>A (p.Ala783Thr) c.2548G>A (p.Ala850Thr) c.2584G>A (p.Ala862Thr) c.2560G>A (p.Ala854Thr) | gnomAD v4 |
13 | g.108208722T>A | CA484974943 | LIG4 | c.2346A>T (p.Gly782=) c.2547A>T (p.Gly849=) c.2583A>T (p.Gly861=) c.2559A>T (p.Gly853=) | |
13 | g.108208722T>C | CA484974944 | LIG4 | c.2346A>G (p.Gly782=) c.2547A>G (p.Gly849=) c.2583A>G (p.Gly861=) c.2559A>G (p.Gly853=) | |
13 | g.108208722T>G | CA484974945 | LIG4 | c.2346A>C (p.Gly782=) c.2547A>C (p.Gly849=) c.2583A>C (p.Gly861=) c.2559A>C (p.Gly853=) | |
13 | g.108208723C>A | CA388612551 | LIG4 | c.2345G>T (p.Gly782Val) c.2546G>T (p.Gly849Val) c.2582G>T (p.Gly861Val) c.2558G>T (p.Gly853Val) | |
13 | g.108208723C= | CA2117793880 | LIG4 | c.2345G= (p.Gly782=) c.2546G= (p.Gly849=) c.2582G= (p.Gly861=) c.2558G= (p.Gly853=) | |
13 | g.108208723C>G | CA388612556 | LIG4 | c.2345G>C (p.Gly782Ala) c.2546G>C (p.Gly849Ala) c.2582G>C (p.Gly861Ala) c.2558G>C (p.Gly853Ala) | |
13 | g.108208723C>T | CA7043474 | LIG4 | c.2345G>A (p.Gly782Glu) c.2546G>A (p.Gly849Glu) c.2582G>A (p.Gly861Glu) c.2558G>A (p.Gly853Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208724C>A | CA388612558 | LIG4 | c.2344G>T (p.Gly782Ter) c.2545G>T (p.Gly849Ter) c.2581G>T (p.Gly861Ter) c.2557G>T (p.Gly853Ter) | |
13 | g.108208724C= | CA2117793881 | LIG4 | c.2344G= (p.Gly782=) c.2545G= (p.Gly849=) c.2581G= (p.Gly861=) c.2557G= (p.Gly853=) | |
13 | g.108208724C>G | CA388612561 | LIG4 | c.2344G>C (p.Gly782Arg) c.2545G>C (p.Gly849Arg) c.2581G>C (p.Gly861Arg) c.2557G>C (p.Gly853Arg) | |
13 | g.108208724C>T | CA388612567 | LIG4 | c.2344G>A (p.Gly782Arg) c.2545G>A (p.Gly849Arg) c.2581G>A (p.Gly861Arg) c.2557G>A (p.Gly853Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.108208725A= | CA2117793882 | LIG4 | c.2343T= (p.His781=) c.2544T= (p.His848=) c.2580T= (p.His860=) c.2556T= (p.His852=) | |
13 | g.108208725A>C | CA388612568 | LIG4 | c.2343T>G (p.His781Gln) c.2544T>G (p.His848Gln) c.2580T>G (p.His860Gln) c.2556T>G (p.His852Gln) | |
13 | g.108208725A>G | CA484974947 | LIG4 | c.2343T>C (p.His781=) c.2544T>C (p.His848=) c.2580T>C (p.His860=) c.2556T>C (p.His852=) | dbSNP |
13 | g.108208725A>T | CA388612569 | LIG4 | c.2343T>A (p.His781Gln) c.2544T>A (p.His848Gln) c.2580T>A (p.His860Gln) c.2556T>A (p.His852Gln) | |
13 | g.108208726T>A | CA388612570 | LIG4 | c.2342A>T (p.His781Leu) c.2543A>T (p.His848Leu) c.2579A>T (p.His860Leu) c.2555A>T (p.His852Leu) | |
13 | g.108208726T>C | CA388612571 | LIG4 | c.2342A>G (p.His781Arg) c.2543A>G (p.His848Arg) c.2579A>G (p.His860Arg) c.2555A>G (p.His852Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.108208726T>G | CA388612573 | LIG4 | c.2342A>C (p.His781Pro) c.2543A>C (p.His848Pro) c.2579A>C (p.His860Pro) c.2555A>C (p.His852Pro) | |
13 | g.108208726T= | CA2117793883 | LIG4 | c.2342A= (p.His781=) c.2543A= (p.His848=) c.2579A= (p.His860=) c.2555A= (p.His852=) | |
13 | g.108208727G>A | CA388612584 | LIG4 | c.2341C>T (p.His781Tyr) c.2542C>T (p.His848Tyr) c.2578C>T (p.His860Tyr) c.2554C>T (p.His852Tyr) | |
13 | g.108208727G>C | CA388612590 | LIG4 | c.2341C>G (p.His781Asp) c.2542C>G (p.His848Asp) c.2578C>G (p.His860Asp) c.2554C>G (p.His852Asp) | |
13 | g.108208727G>T | CA388612593 | LIG4 | c.2341C>A (p.His781Asn) c.2542C>A (p.His848Asn) c.2578C>A (p.His860Asn) c.2554C>A (p.His852Asn) | COSMIC |
13 | g.108208728A= | CA2117793884 | LIG4 | c.2340T= (p.Phe780=) c.2541T= (p.Phe847=) c.2577T= (p.Phe859=) c.2553T= (p.Phe851=) | |
13 | g.108208728A>C | CA388612598 | LIG4 | c.2340T>G (p.Phe780Leu) c.2541T>G (p.Phe847Leu) c.2577T>G (p.Phe859Leu) c.2553T>G (p.Phe851Leu) | dbSNP |
13 | g.108208728A>G | CA484974949 | LIG4 | c.2340T>C (p.Phe780=) c.2541T>C (p.Phe847=) c.2577T>C (p.Phe859=) c.2553T>C (p.Phe851=) | ClinVar gnomAD v4 |
13 | g.108208728A>T | CA388612604 | LIG4 | c.2340T>A (p.Phe780Leu) c.2541T>A (p.Phe847Leu) c.2577T>A (p.Phe859Leu) c.2553T>A (p.Phe851Leu) | |
13 | g.108208729A>C | CA388612607 | LIG4 | c.2339T>G (p.Phe780Cys) c.2540T>G (p.Phe847Cys) c.2576T>G (p.Phe859Cys) c.2552T>G (p.Phe851Cys) | |
13 | g.108208729A>G | CA388612614 | LIG4 | c.2339T>C (p.Phe780Ser) c.2540T>C (p.Phe847Ser) c.2576T>C (p.Phe859Ser) c.2552T>C (p.Phe851Ser) | |
13 | g.108208729A>T | CA388612610 | LIG4 | c.2339T>A (p.Phe780Tyr) c.2540T>A (p.Phe847Tyr) c.2576T>A (p.Phe859Tyr) c.2552T>A (p.Phe851Tyr) | |
13 | g.108208730A>C | CA388612616 | LIG4 | c.2338T>G (p.Phe780Val) c.2539T>G (p.Phe847Val) c.2575T>G (p.Phe859Val) c.2551T>G (p.Phe851Val) | |
13 | g.108208730A>G | CA388612619 | LIG4 | c.2338T>C (p.Phe780Leu) c.2539T>C (p.Phe847Leu) c.2575T>C (p.Phe859Leu) c.2551T>C (p.Phe851Leu) | |
13 | g.108208730A>T | CA388612618 | LIG4 | c.2338T>A (p.Phe780Ile) c.2539T>A (p.Phe847Ile) c.2575T>A (p.Phe859Ile) c.2551T>A (p.Phe851Ile) | |
13 | g.108208731C>A | CA484974951 | LIG4 | c.2337G>T (p.Arg779=) c.2538G>T (p.Arg846=) c.2574G>T (p.Arg858=) c.2550G>T (p.Arg850=) | |
13 | g.108208731C>G | CA484974952 | LIG4 | c.2337G>C (p.Arg779=) c.2538G>C (p.Arg846=) c.2574G>C (p.Arg858=) c.2550G>C (p.Arg850=) | |
13 | g.108208731C>T | CA484974953 | LIG4 | c.2337G>A (p.Arg779=) c.2538G>A (p.Arg846=) c.2574G>A (p.Arg858=) c.2550G>A (p.Arg850=) | |
13 | g.108208732C>A | CA388612620 | LIG4 | c.2336G>T (p.Arg779Leu) c.2537G>T (p.Arg846Leu) c.2573G>T (p.Arg858Leu) c.2549G>T (p.Arg850Leu) | |
13 | g.108208732C= | CA2117793885 | LIG4 | c.2336G= (p.Arg779=) c.2537G= (p.Arg846=) c.2573G= (p.Arg858=) c.2549G= (p.Arg850=) | |
13 | g.108208732C>G | CA388612621 | LIG4 | c.2336G>C (p.Arg779Pro) c.2537G>C (p.Arg846Pro) c.2573G>C (p.Arg858Pro) c.2549G>C (p.Arg850Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208732C>T | CA256179039 | LIG4 | c.2336G>A (p.Arg779Gln) c.2537G>A (p.Arg846Gln) c.2573G>A (p.Arg858Gln) c.2549G>A (p.Arg850Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208733G>A | CA7043475 | LIG4 | c.2335C>T (p.Arg779Trp) c.2536C>T (p.Arg846Trp) c.2572C>T (p.Arg858Trp) c.2548C>T (p.Arg850Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208733G>C | CA388612624 | LIG4 | c.2335C>G (p.Arg779Gly) c.2536C>G (p.Arg846Gly) c.2572C>G (p.Arg858Gly) c.2548C>G (p.Arg850Gly) | |
13 | g.108208733G= | CA2117793886 | LIG4 | c.2335C= (p.Arg779=) c.2536C= (p.Arg846=) c.2572C= (p.Arg858=) c.2548C= (p.Arg850=) | |
13 | g.108208733G>T | CA484974954 | LIG4 | c.2335C>A (p.Arg779=) c.2536C>A (p.Arg846=) c.2572C>A (p.Arg858=) c.2548C>A (p.Arg850=) | |
13 | g.108208734A>C | CA484974956 | LIG4 | c.2334T>G (p.Leu778=) c.2535T>G (p.Leu845=) c.2571T>G (p.Leu857=) c.2547T>G (p.Leu849=) | |
13 | g.108208734A>G | CA484974958 | LIG4 | c.2334T>C (p.Leu778=) c.2535T>C (p.Leu845=) c.2571T>C (p.Leu857=) c.2547T>C (p.Leu849=) | |
13 | g.108208734A>T | CA484974959 | LIG4 | c.2334T>A (p.Leu778=) c.2535T>A (p.Leu845=) c.2571T>A (p.Leu857=) c.2547T>A (p.Leu849=) | |
13 | g.108208735A= | CA2117793887 | LIG4 | c.2333T= (p.Leu778=) c.2534T= (p.Leu845=) c.2570T= (p.Leu857=) c.2546T= (p.Leu849=) | |
13 | g.108208735A>C | CA388612626 | LIG4 | c.2333T>G (p.Leu778Arg) c.2534T>G (p.Leu845Arg) c.2570T>G (p.Leu857Arg) c.2546T>G (p.Leu849Arg) | |
13 | g.108208735A>G | CA388612629 | LIG4 | c.2333T>C (p.Leu778Pro) c.2534T>C (p.Leu845Pro) c.2570T>C (p.Leu857Pro) c.2546T>C (p.Leu849Pro) | dbSNP gnomAD v2 |
13 | g.108208735A>T | CA388612642 | LIG4 | c.2333T>A (p.Leu778His) c.2534T>A (p.Leu845His) c.2570T>A (p.Leu857His) c.2546T>A (p.Leu849His) | |
13 | g.108208736G>A | CA388612643 | LIG4 | c.2332C>T (p.Leu778Phe) c.2533C>T (p.Leu845Phe) c.2569C>T (p.Leu857Phe) c.2545C>T (p.Leu849Phe) | |
13 | g.108208736G>C | CA388612644 | LIG4 | c.2332C>G (p.Leu778Val) c.2533C>G (p.Leu845Val) c.2569C>G (p.Leu857Val) c.2545C>G (p.Leu849Val) | |
13 | g.108208736G>T | CA388612645 | LIG4 | c.2332C>A (p.Leu778Ile) c.2533C>A (p.Leu845Ile) c.2569C>A (p.Leu857Ile) c.2545C>A (p.Leu849Ile) | |
13 | g.108208737C>A | CA388612650 | LIG4 | c.2331G>T (p.Glu777Asp) c.2532G>T (p.Glu844Asp) c.2568G>T (p.Glu856Asp) c.2544G>T (p.Glu848Asp) | |
13 | g.108208737C>G | CA388612648 | LIG4 | c.2331G>C (p.Glu777Asp) c.2532G>C (p.Glu844Asp) c.2568G>C (p.Glu856Asp) c.2544G>C (p.Glu848Asp) | |
13 | g.108208737C>T | CA484974961 | LIG4 | c.2331G>A (p.Glu777=) c.2532G>A (p.Glu844=) c.2568G>A (p.Glu856=) c.2544G>A (p.Glu848=) | gnomAD v4 |
13 | g.108208738T>A | CA388612653 | LIG4 | c.2330A>T (p.Glu777Val) c.2531A>T (p.Glu844Val) c.2567A>T (p.Glu856Val) c.2543A>T (p.Glu848Val) | |
13 | g.108208738T>C | CA388612655 | LIG4 | c.2330A>G (p.Glu777Gly) c.2531A>G (p.Glu844Gly) c.2567A>G (p.Glu856Gly) c.2543A>G (p.Glu848Gly) | |
13 | g.108208738T>G | CA388612657 | LIG4 | c.2330A>C (p.Glu777Ala) c.2531A>C (p.Glu844Ala) c.2567A>C (p.Glu856Ala) c.2543A>C (p.Glu848Ala) | |
13 | g.108208739C>A | CA388612660 | LIG4 | c.2329G>T (p.Glu777Ter) c.2530G>T (p.Glu844Ter) c.2566G>T (p.Glu856Ter) c.2542G>T (p.Glu848Ter) | |
13 | g.108208739C>G | CA388612664 | LIG4 | c.2329G>C (p.Glu777Gln) c.2530G>C (p.Glu844Gln) c.2566G>C (p.Glu856Gln) c.2542G>C (p.Glu848Gln) | |
13 | g.108208739C>T | CA388612666 | LIG4 | c.2329G>A (p.Glu777Lys) c.2530G>A (p.Glu844Lys) c.2566G>A (p.Glu856Lys) c.2542G>A (p.Glu848Lys) | |
13 | g.108208740C>A | CA388612667 | LIG4 | c.2328G>T (p.Leu776Phe) c.2529G>T (p.Leu843Phe) c.2565G>T (p.Leu855Phe) c.2541G>T (p.Leu847Phe) | |
13 | g.108208740C>G | CA388612668 | LIG4 | c.2328G>C (p.Leu776Phe) c.2529G>C (p.Leu843Phe) c.2565G>C (p.Leu855Phe) c.2541G>C (p.Leu847Phe) | |
13 | g.108208740C>T | CA484974963 | LIG4 | c.2328G>A (p.Leu776=) c.2529G>A (p.Leu843=) c.2565G>A (p.Leu855=) c.2541G>A (p.Leu847=) | ClinVar gnomAD v4 |
13 | g.108208741A>C | CA388612671 | LIG4 | c.2327T>G (p.Leu776Trp) c.2528T>G (p.Leu843Trp) c.2564T>G (p.Leu855Trp) c.2540T>G (p.Leu847Trp) | |
13 | g.108208741A>G | CA388612676 | LIG4 | c.2327T>C (p.Leu776Ser) c.2528T>C (p.Leu843Ser) c.2564T>C (p.Leu855Ser) c.2540T>C (p.Leu847Ser) | |
13 | g.108208741A>T | CA388612678 | LIG4 | c.2327T>A (p.Leu776Ter) c.2528T>A (p.Leu843Ter) c.2564T>A (p.Leu855Ter) c.2540T>A (p.Leu847Ter) | |
13 | g.108208742A= | CA2117793888 | LIG4 | c.2326T= (p.Leu776=) c.2527T= (p.Leu843=) c.2563T= (p.Leu855=) c.2539T= (p.Leu847=) | |
13 | g.108208742A>C | CA388612680 | LIG4 | c.2326T>G (p.Leu776Val) c.2527T>G (p.Leu843Val) c.2563T>G (p.Leu855Val) c.2539T>G (p.Leu847Val) | |
13 | g.108208742A>G | CA7043476 | LIG4 | c.2326T>C (p.Leu776=) c.2527T>C (p.Leu843=) c.2563T>C (p.Leu855=) c.2539T>C (p.Leu847=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208742A>T | CA388612679 | LIG4 | c.2326T>A (p.Leu776Met) c.2527T>A (p.Leu843Met) c.2563T>A (p.Leu855Met) c.2539T>A (p.Leu847Met) | |
13 | g.108208743G>A | CA484974964 | LIG4 | c.2325C>T (p.Ala775=) c.2526C>T (p.Ala842=) c.2562C>T (p.Ala854=) c.2538C>T (p.Ala846=) | |
13 | g.108208743G>C | CA484974965 | LIG4 | c.2325C>G (p.Ala775=) c.2526C>G (p.Ala842=) c.2562C>G (p.Ala854=) c.2538C>G (p.Ala846=) | |
13 | g.108208743G>T | CA484974966 | LIG4 | c.2325C>A (p.Ala775=) c.2526C>A (p.Ala842=) c.2562C>A (p.Ala854=) c.2538C>A (p.Ala846=) | |
13 | g.108208744G>A | CA388612681 | LIG4 | c.2324C>T (p.Ala775Val) c.2525C>T (p.Ala842Val) c.2561C>T (p.Ala854Val) c.2537C>T (p.Ala846Val) | |
13 | g.108208744G>C | CA388612682 | LIG4 | c.2324C>G (p.Ala775Gly) c.2525C>G (p.Ala842Gly) c.2561C>G (p.Ala854Gly) c.2537C>G (p.Ala846Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208744G= | CA2117793889 | LIG4 | c.2324C= (p.Ala775=) c.2525C= (p.Ala842=) c.2561C= (p.Ala854=) c.2537C= (p.Ala846=) | |
13 | g.108208744G>T | CA7043477 | LIG4 | c.2324C>A (p.Ala775Asp) c.2525C>A (p.Ala842Asp) c.2561C>A (p.Ala854Asp) c.2537C>A (p.Ala846Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208745C>A | CA388612683 | LIG4 | c.2323G>T (p.Ala775Ser) c.2524G>T (p.Ala842Ser) c.2560G>T (p.Ala854Ser) c.2536G>T (p.Ala846Ser) | |
13 | g.108208745C>G | CA388612685 | LIG4 | c.2323G>C (p.Ala775Pro) c.2524G>C (p.Ala842Pro) c.2560G>C (p.Ala854Pro) c.2536G>C (p.Ala846Pro) | |
13 | g.108208745C>T | CA388612686 | LIG4 | c.2323G>A (p.Ala775Thr) c.2524G>A (p.Ala842Thr) c.2560G>A (p.Ala854Thr) c.2536G>A (p.Ala846Thr) | gnomAD v4 |
13 | g.108208746T>A | CA388612687 | LIG4 | c.2322A>T (p.Lys774Asn) c.2523A>T (p.Lys841Asn) c.2559A>T (p.Lys853Asn) c.2535A>T (p.Lys845Asn) | |
13 | g.108208746T>C | CA484974968 | LIG4 | c.2322A>G (p.Lys774=) c.2523A>G (p.Lys841=) c.2559A>G (p.Lys853=) c.2535A>G (p.Lys845=) | |
13 | g.108208746T>G | CA388612688 | LIG4 | c.2322A>C (p.Lys774Asn) c.2523A>C (p.Lys841Asn) c.2559A>C (p.Lys853Asn) c.2535A>C (p.Lys845Asn) | |
13 | g.108208747T>A | CA388612690 | LIG4 | c.2321A>T (p.Lys774Ile) c.2522A>T (p.Lys841Ile) c.2558A>T (p.Lys853Ile) c.2534A>T (p.Lys845Ile) | |
13 | g.108208747T>C | CA388612692 | LIG4 | c.2321A>G (p.Lys774Arg) c.2522A>G (p.Lys841Arg) c.2558A>G (p.Lys853Arg) c.2534A>G (p.Lys845Arg) | |
13 | g.108208747T>G | CA388612693 | LIG4 | c.2321A>C (p.Lys774Thr) c.2522A>C (p.Lys841Thr) c.2558A>C (p.Lys853Thr) c.2534A>C (p.Lys845Thr) | gnomAD v4 |
13 | g.108208748T>A | CA388612695 | LIG4 | c.2320A>T (p.Lys774Ter) c.2521A>T (p.Lys841Ter) c.2557A>T (p.Lys853Ter) c.2533A>T (p.Lys845Ter) | |
13 | g.108208748T>C | CA388612697 | LIG4 | c.2320A>G (p.Lys774Glu) c.2521A>G (p.Lys841Glu) c.2557A>G (p.Lys853Glu) c.2533A>G (p.Lys845Glu) | dbSNP |
13 | g.108208748T>G | CA388612694 | LIG4 | c.2320A>C (p.Lys774Gln) c.2521A>C (p.Lys841Gln) c.2557A>C (p.Lys853Gln) c.2533A>C (p.Lys845Gln) | |
13 | g.108208748T= | CA2117793890 | LIG4 | c.2320A= (p.Lys774=) c.2521A= (p.Lys841=) c.2557A= (p.Lys853=) c.2533A= (p.Lys845=) | |
13 | g.108208749A= | CA2117793891 | LIG4 | c.2319T= (p.Ile773=) c.2520T= (p.Ile840=) c.2556T= (p.Ile852=) c.2532T= (p.Ile844=) | |
13 | g.108208749A>C | CA388612699 | LIG4 | c.2319T>G (p.Ile773Met) c.2520T>G (p.Ile840Met) c.2556T>G (p.Ile852Met) c.2532T>G (p.Ile844Met) | gnomAD v4 |
13 | g.108208749A>G | CA256179076 | LIG4 | c.2319T>C (p.Ile773=) c.2520T>C (p.Ile840=) c.2556T>C (p.Ile852=) c.2532T>C (p.Ile844=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208749A>T | CA484974969 | LIG4 | c.2319T>A (p.Ile773=) c.2520T>A (p.Ile840=) c.2556T>A (p.Ile852=) c.2532T>A (p.Ile844=) | |
13 | g.108208750A>C | CA388612704 | LIG4 | c.2318T>G (p.Ile773Ser) c.2519T>G (p.Ile840Ser) c.2555T>G (p.Ile852Ser) c.2531T>G (p.Ile844Ser) | |
13 | g.108208750A>G | CA388612715 | LIG4 | c.2318T>C (p.Ile773Thr) c.2519T>C (p.Ile840Thr) c.2555T>C (p.Ile852Thr) c.2531T>C (p.Ile844Thr) | ClinVar dbSNP |
13 | g.108208750A>T | CA388612720 | LIG4 | c.2318T>A (p.Ile773Asn) c.2519T>A (p.Ile840Asn) c.2555T>A (p.Ile852Asn) c.2531T>A (p.Ile844Asn) | |
13 | g.108208751T>A | CA388612725 | LIG4 | c.2317A>T (p.Ile773Phe) c.2518A>T (p.Ile840Phe) c.2554A>T (p.Ile852Phe) c.2530A>T (p.Ile844Phe) | |
13 | g.108208751T>C | CA7043478 | LIG4 | c.2317A>G (p.Ile773Val) c.2518A>G (p.Ile840Val) c.2554A>G (p.Ile852Val) c.2530A>G (p.Ile844Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208751T>G | CA388612723 | LIG4 | c.2317A>C (p.Ile773Leu) c.2518A>C (p.Ile840Leu) c.2554A>C (p.Ile852Leu) c.2530A>C (p.Ile844Leu) | |
13 | g.108208751T= | CA2117793892 | LIG4 | c.2317A= (p.Ile773=) c.2518A= (p.Ile840=) c.2554A= (p.Ile852=) c.2530A= (p.Ile844=) | |
13 | g.108208752A>C | CA484974971 | LIG4 | c.2316T>G (p.Ala772=) c.2517T>G (p.Ala839=) c.2553T>G (p.Ala851=) c.2529T>G (p.Ala843=) | |
13 | g.108208752A>G | CA484974972 | LIG4 | c.2316T>C (p.Ala772=) c.2517T>C (p.Ala839=) c.2553T>C (p.Ala851=) c.2529T>C (p.Ala843=) | ClinVar |
13 | g.108208752A>T | CA484974974 | LIG4 | c.2316T>A (p.Ala772=) c.2517T>A (p.Ala839=) c.2553T>A (p.Ala851=) c.2529T>A (p.Ala843=) | |
13 | g.108208753G>A | CA388612728 | LIG4 | c.2315C>T (p.Ala772Val) c.2516C>T (p.Ala839Val) c.2552C>T (p.Ala851Val) c.2528C>T (p.Ala843Val) | |
13 | g.108208753G>C | CA388612729 | LIG4 | c.2315C>G (p.Ala772Gly) c.2516C>G (p.Ala839Gly) c.2552C>G (p.Ala851Gly) c.2528C>G (p.Ala843Gly) | |
13 | g.108208753G>T | CA388612736 | LIG4 | c.2315C>A (p.Ala772Asp) c.2516C>A (p.Ala839Asp) c.2552C>A (p.Ala851Asp) c.2528C>A (p.Ala843Asp) | |
13 | g.108208754C>A | CA388612738 | LIG4 | c.2314G>T (p.Ala772Ser) c.2515G>T (p.Ala839Ser) c.2551G>T (p.Ala851Ser) c.2527G>T (p.Ala843Ser) | |
13 | g.108208754C= | CA2117793893 | LIG4 | c.2314G= (p.Ala772=) c.2515G= (p.Ala839=) c.2551G= (p.Ala851=) c.2527G= (p.Ala843=) | |
13 | g.108208754C>G | CA388612739 | LIG4 | c.2314G>C (p.Ala772Pro) c.2515G>C (p.Ala839Pro) c.2551G>C (p.Ala851Pro) c.2527G>C (p.Ala843Pro) | |
13 | g.108208754C>T | CA388612740 | LIG4 | c.2314G>A (p.Ala772Thr) c.2515G>A (p.Ala839Thr) c.2551G>A (p.Ala851Thr) c.2527G>A (p.Ala843Thr) | dbSNP |
13 | g.108208755T>A | CA388612745 | LIG4 | c.2313A>T (p.Leu771Phe) c.2514A>T (p.Leu838Phe) c.2550A>T (p.Leu850Phe) c.2526A>T (p.Leu842Phe) | |
13 | g.108208755T>C | CA484974977 | LIG4 | c.2313A>G (p.Leu771=) c.2514A>G (p.Leu838=) c.2550A>G (p.Leu850=) c.2526A>G (p.Leu842=) | |
13 | g.108208755T>G | CA388612742 | LIG4 | c.2313A>C (p.Leu771Phe) c.2514A>C (p.Leu838Phe) c.2550A>C (p.Leu850Phe) c.2526A>C (p.Leu842Phe) | |
13 | g.108208756A>C | CA388612749 | LIG4 | c.2312T>G (p.Leu771Ter) c.2513T>G (p.Leu838Ter) c.2549T>G (p.Leu850Ter) c.2525T>G (p.Leu842Ter) | |
13 | g.108208756A>G | CA388612753 | LIG4 | c.2312T>C (p.Leu771Ser) c.2513T>C (p.Leu838Ser) c.2549T>C (p.Leu850Ser) c.2525T>C (p.Leu842Ser) | |
13 | g.108208756A>T | CA388612751 | LIG4 | c.2312T>A (p.Leu771Ter) c.2513T>A (p.Leu838Ter) c.2549T>A (p.Leu850Ter) c.2525T>A (p.Leu842Ter) | |
13 | g.108208757A>C | CA388612757 | LIG4 | c.2311T>G (p.Leu771Val) c.2512T>G (p.Leu838Val) c.2548T>G (p.Leu850Val) c.2524T>G (p.Leu842Val) | |
13 | g.108208757A>G | CA484974981 | LIG4 | c.2311T>C (p.Leu771=) c.2512T>C (p.Leu838=) c.2548T>C (p.Leu850=) c.2524T>C (p.Leu842=) | |
13 | g.108208757A>T | CA388612759 | LIG4 | c.2311T>A (p.Leu771Ile) c.2512T>A (p.Leu838Ile) c.2548T>A (p.Leu850Ile) c.2524T>A (p.Leu842Ile) | |
13 | g.108208758C>A | CA256179091 | LIG4 | c.2310G>T (p.Arg770Ser) c.2511G>T (p.Arg837Ser) c.2547G>T (p.Arg849Ser) c.2523G>T (p.Arg841Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208758C= | CA2117793894 | LIG4 | c.2310G= (p.Arg770=) c.2511G= (p.Arg837=) c.2547G= (p.Arg849=) c.2523G= (p.Arg841=) | |
13 | g.108208758C>G | CA388612761 | LIG4 | c.2310G>C (p.Arg770Ser) c.2511G>C (p.Arg837Ser) c.2547G>C (p.Arg849Ser) c.2523G>C (p.Arg841Ser) | gnomAD v4 |
13 | g.108208758C>T | CA484974982 | LIG4 | c.2310G>A (p.Arg770=) c.2511G>A (p.Arg837=) c.2547G>A (p.Arg849=) c.2523G>A (p.Arg841=) | ClinVar dbSNP |
13 | g.108208759C>A | CA388612763 | LIG4 | c.2309G>T (p.Arg770Met) c.2510G>T (p.Arg837Met) c.2546G>T (p.Arg849Met) c.2522G>T (p.Arg841Met) | |
13 | g.108208759C= | CA2117793895 | LIG4 | c.2309G= (p.Arg770=) c.2510G= (p.Arg837=) c.2546G= (p.Arg849=) c.2522G= (p.Arg841=) | |
13 | g.108208759C>G | CA388612766 | LIG4 | c.2309G>C (p.Arg770Thr) c.2510G>C (p.Arg837Thr) c.2546G>C (p.Arg849Thr) c.2522G>C (p.Arg841Thr) | dbSNP |
13 | g.108208759C>T | CA388612769 | LIG4 | c.2309G>A (p.Arg770Lys) c.2510G>A (p.Arg837Lys) c.2546G>A (p.Arg849Lys) c.2522G>A (p.Arg841Lys) | gnomAD v4 |
13 | g.108208760T>A | CA388612772 | LIG4 | c.2308A>T (p.Arg770Trp) c.2509A>T (p.Arg837Trp) c.2545A>T (p.Arg849Trp) c.2521A>T (p.Arg841Trp) | |
13 | g.108208760T>C | CA388612775 | LIG4 | c.2308A>G (p.Arg770Gly) c.2509A>G (p.Arg837Gly) c.2545A>G (p.Arg849Gly) c.2521A>G (p.Arg841Gly) | |
13 | g.108208760T>G | CA484974984 | LIG4 | c.2308A>C (p.Arg770=) c.2509A>C (p.Arg837=) c.2545A>C (p.Arg849=) c.2521A>C (p.Arg841=) | |
13 | g.108208761del | CA2695218918 | LIG4 | c.2308del (p.Arg770GlyfsTer2) c.2509del (p.Arg837GlyfsTer2) c.2545del (p.Arg849GlyfsTer2) c.2521del (p.Arg841GlyfsTer2) | |
13 | g.108208761T>A | CA484974985 | LIG4 | c.2307A>T (p.Thr769=) c.2508A>T (p.Thr836=) c.2544A>T (p.Thr848=) c.2520A>T (p.Thr840=) | |
13 | g.108208761T>C | CA484974986 | LIG4 | c.2307A>G (p.Thr769=) c.2508A>G (p.Thr836=) c.2544A>G (p.Thr848=) c.2520A>G (p.Thr840=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208761T>G | CA484974987 | LIG4 | c.2307A>C (p.Thr769=) c.2508A>C (p.Thr836=) c.2544A>C (p.Thr848=) c.2520A>C (p.Thr840=) | |
13 | g.108208761T= | CA2117793896 | LIG4 | c.2307A= (p.Thr769=) c.2508A= (p.Thr836=) c.2544A= (p.Thr848=) c.2520A= (p.Thr840=) | |
13 | g.108208762G>A | CA7043479 | LIG4 | c.2306C>T (p.Thr769Ile) c.2507C>T (p.Thr836Ile) c.2543C>T (p.Thr848Ile) c.2519C>T (p.Thr840Ile) | dbSNP ExAC gnomAD v2 |
13 | g.108208762G>C | CA388612779 | LIG4 | c.2306C>G (p.Thr769Arg) c.2507C>G (p.Thr836Arg) c.2543C>G (p.Thr848Arg) c.2519C>G (p.Thr840Arg) | gnomAD v4 |
13 | g.108208762G= | CA2117793897 | LIG4 | c.2306C= (p.Thr769=) c.2507C= (p.Thr836=) c.2543C= (p.Thr848=) c.2519C= (p.Thr840=) | |
13 | g.108208762G>T | CA388612781 | LIG4 | c.2306C>A (p.Thr769Lys) c.2507C>A (p.Thr836Lys) c.2543C>A (p.Thr848Lys) c.2519C>A (p.Thr840Lys) | gnomAD v4 |
13 | g.108208763T>A | CA388612790 | LIG4 | c.2305A>T (p.Thr769Ser) c.2506A>T (p.Thr836Ser) c.2542A>T (p.Thr848Ser) c.2518A>T (p.Thr840Ser) | |
13 | g.108208763T>C | CA388612784 | LIG4 | c.2305A>G (p.Thr769Ala) c.2506A>G (p.Thr836Ala) c.2542A>G (p.Thr848Ala) c.2518A>G (p.Thr840Ala) | |
13 | g.108208763T>G | CA388612787 | LIG4 | c.2305A>C (p.Thr769Pro) c.2506A>C (p.Thr836Pro) c.2542A>C (p.Thr848Pro) c.2518A>C (p.Thr840Pro) | |
13 | g.108208764C>A | CA484974989 | LIG4 | c.2304G>T (p.Gly768=) c.2505G>T (p.Gly835=) c.2541G>T (p.Gly847=) c.2517G>T (p.Gly839=) | |
13 | g.108208764C>G | CA484974990 | LIG4 | c.2304G>C (p.Gly768=) c.2505G>C (p.Gly835=) c.2541G>C (p.Gly847=) c.2517G>C (p.Gly839=) | |
13 | g.108208764C>T | CA484974991 | LIG4 | c.2304G>A (p.Gly768=) c.2505G>A (p.Gly835=) c.2541G>A (p.Gly847=) c.2517G>A (p.Gly839=) | ClinVar |
13 | g.108208765C>A | CA388612795 | LIG4 | c.2303G>T (p.Gly768Val) c.2504G>T (p.Gly835Val) c.2540G>T (p.Gly847Val) c.2516G>T (p.Gly839Val) | |
13 | g.108208765C= | CA2117793898 | LIG4 | c.2303G= (p.Gly768=) c.2504G= (p.Gly835=) c.2540G= (p.Gly847=) c.2516G= (p.Gly839=) | |
13 | g.108208765C>G | CA388612796 | LIG4 | c.2303G>C (p.Gly768Ala) c.2504G>C (p.Gly835Ala) c.2540G>C (p.Gly847Ala) c.2516G>C (p.Gly839Ala) | dbSNP gnomAD v4 |
13 | g.108208765C>T | CA388612799 | LIG4 | c.2303G>A (p.Gly768Glu) c.2504G>A (p.Gly835Glu) c.2540G>A (p.Gly847Glu) c.2516G>A (p.Gly839Glu) | |
13 | g.108208766C>A | CA388612802 | LIG4 | c.2302G>T (p.Gly768Trp) c.2503G>T (p.Gly835Trp) c.2539G>T (p.Gly847Trp) c.2515G>T (p.Gly839Trp) | |
13 | g.108208766C= | CA2117793899 | LIG4 | c.2302G= (p.Gly768=) c.2503G= (p.Gly835=) c.2539G= (p.Gly847=) c.2515G= (p.Gly839=) | |
13 | g.108208766C>G | CA388612804 | LIG4 | c.2302G>C (p.Gly768Arg) c.2503G>C (p.Gly835Arg) c.2539G>C (p.Gly847Arg) c.2515G>C (p.Gly839Arg) | gnomAD v4 |
13 | g.108208766C>T | CA388612806 | LIG4 | c.2302G>A (p.Gly768Arg) c.2503G>A (p.Gly835Arg) c.2539G>A (p.Gly847Arg) c.2515G>A (p.Gly839Arg) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208767C>A | CA388612809 | LIG4 | c.2301G>T (p.Glu767Asp) c.2502G>T (p.Glu834Asp) c.2538G>T (p.Glu846Asp) c.2514G>T (p.Glu838Asp) | |
13 | g.108208767C>G | CA388612810 | LIG4 | c.2301G>C (p.Glu767Asp) c.2502G>C (p.Glu834Asp) c.2538G>C (p.Glu846Asp) c.2514G>C (p.Glu838Asp) | |
13 | g.108208767C>T | CA484974992 | LIG4 | c.2301G>A (p.Glu767=) c.2502G>A (p.Glu834=) c.2538G>A (p.Glu846=) c.2514G>A (p.Glu838=) | |
13 | g.108208768T>A | CA388612813 | LIG4 | c.2300A>T (p.Glu767Val) c.2501A>T (p.Glu834Val) c.2537A>T (p.Glu846Val) c.2513A>T (p.Glu838Val) | COSMIC |
13 | g.108208768T>C | CA388612814 | LIG4 | c.2300A>G (p.Glu767Gly) c.2501A>G (p.Glu834Gly) c.2537A>G (p.Glu846Gly) c.2513A>G (p.Glu838Gly) | |
13 | g.108208768T>G | CA388612817 | LIG4 | c.2300A>C (p.Glu767Ala) c.2501A>C (p.Glu834Ala) c.2537A>C (p.Glu846Ala) c.2513A>C (p.Glu838Ala) | |
13 | g.108208769C>A | CA388612824 | LIG4 | c.2299G>T (p.Glu767Ter) c.2500G>T (p.Glu834Ter) c.2536G>T (p.Glu846Ter) c.2512G>T (p.Glu838Ter) | |
13 | g.108208769C>G | CA388612823 | LIG4 | c.2299G>C (p.Glu767Gln) c.2500G>C (p.Glu834Gln) c.2536G>C (p.Glu846Gln) c.2512G>C (p.Glu838Gln) | |
13 | g.108208769C>T | CA388612822 | LIG4 | c.2299G>A (p.Glu767Lys) c.2500G>A (p.Glu834Lys) c.2536G>A (p.Glu846Lys) c.2512G>A (p.Glu838Lys) | |
13 | g.108208770A= | CA2117793900 | LIG4 | c.2298T= (p.Asn766=) c.2499T= (p.Asn833=) c.2535T= (p.Asn845=) c.2511T= (p.Asn837=) | |
13 | g.108208770A>C | CA388612825 | LIG4 | c.2298T>G (p.Asn766Lys) c.2499T>G (p.Asn833Lys) c.2535T>G (p.Asn845Lys) c.2511T>G (p.Asn837Lys) | |
13 | g.108208770A>G | CA7043480 | LIG4 | c.2298T>C (p.Asn766=) c.2499T>C (p.Asn833=) c.2535T>C (p.Asn845=) c.2511T>C (p.Asn837=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208770A>T | CA388612827 | LIG4 | c.2298T>A (p.Asn766Lys) c.2499T>A (p.Asn833Lys) c.2535T>A (p.Asn845Lys) c.2511T>A (p.Asn837Lys) | |
13 | g.108208771T>A | CA388612834 | LIG4 | c.2297A>T (p.Asn766Ile) c.2498A>T (p.Asn833Ile) c.2534A>T (p.Asn845Ile) c.2510A>T (p.Asn837Ile) | |
13 | g.108208771T>C | CA388612835 | LIG4 | c.2297A>G (p.Asn766Ser) c.2498A>G (p.Asn833Ser) c.2534A>G (p.Asn845Ser) c.2510A>G (p.Asn837Ser) | |
13 | g.108208771T>G | CA388612838 | LIG4 | c.2297A>C (p.Asn766Thr) c.2498A>C (p.Asn833Thr) c.2534A>C (p.Asn845Thr) c.2510A>C (p.Asn837Thr) | |
13 | g.108208772T>A | CA388612847 | LIG4 | c.2296A>T (p.Asn766Tyr) c.2497A>T (p.Asn833Tyr) c.2533A>T (p.Asn845Tyr) c.2509A>T (p.Asn837Tyr) | |
13 | g.108208772T>C | CA388612842 | LIG4 | c.2296A>G (p.Asn766Asp) c.2497A>G (p.Asn833Asp) c.2533A>G (p.Asn845Asp) c.2509A>G (p.Asn837Asp) | |
13 | g.108208772T>G | CA388612845 | LIG4 | c.2296A>C (p.Asn766His) c.2497A>C (p.Asn833His) c.2533A>C (p.Asn845His) c.2509A>C (p.Asn837His) | |
13 | g.108208773T>A | CA388612850 | LIG4 | c.2295A>T (p.Lys765Asn) c.2496A>T (p.Lys832Asn) c.2532A>T (p.Lys844Asn) c.2508A>T (p.Lys836Asn) | |
13 | g.108208773T>C | CA484974997 | LIG4 | c.2295A>G (p.Lys765=) c.2496A>G (p.Lys832=) c.2532A>G (p.Lys844=) c.2508A>G (p.Lys836=) | COSMIC |
13 | g.108208773T>G | CA388612851 | LIG4 | c.2295A>C (p.Lys765Asn) c.2496A>C (p.Lys832Asn) c.2532A>C (p.Lys844Asn) c.2508A>C (p.Lys836Asn) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208773T= | CA2117793901 | LIG4 | c.2295A= (p.Lys765=) c.2496A= (p.Lys832=) c.2532A= (p.Lys844=) c.2508A= (p.Lys836=) | |
13 | g.108208774T>A | CA388612854 | LIG4 | c.2294A>T (p.Lys765Ile) c.2495A>T (p.Lys832Ile) c.2531A>T (p.Lys844Ile) c.2507A>T (p.Lys836Ile) | |
13 | g.108208774T>C | CA388612856 | LIG4 | c.2294A>G (p.Lys765Arg) c.2495A>G (p.Lys832Arg) c.2531A>G (p.Lys844Arg) c.2507A>G (p.Lys836Arg) | |
13 | g.108208774T>G | CA388612860 | LIG4 | c.2294A>C (p.Lys765Thr) c.2495A>C (p.Lys832Thr) c.2531A>C (p.Lys844Thr) c.2507A>C (p.Lys836Thr) | |
13 | g.108208775T>A | CA388612863 | LIG4 | c.2293A>T (p.Lys765Ter) c.2494A>T (p.Lys832Ter) c.2530A>T (p.Lys844Ter) c.2506A>T (p.Lys836Ter) | |
13 | g.108208775T>C | CA388612866 | LIG4 | c.2293A>G (p.Lys765Glu) c.2494A>G (p.Lys832Glu) c.2530A>G (p.Lys844Glu) c.2506A>G (p.Lys836Glu) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208775T>G | CA388612865 | LIG4 | c.2293A>C (p.Lys765Gln) c.2494A>C (p.Lys832Gln) c.2530A>C (p.Lys844Gln) c.2506A>C (p.Lys836Gln) | |
13 | g.108208775T= | CA2117793902 | LIG4 | c.2293A= (p.Lys765=) c.2494A= (p.Lys832=) c.2530A= (p.Lys844=) c.2506A= (p.Lys836=) | |
13 | g.108208776G>A | CA484975001 | LIG4 | c.2292C>T (p.Thr764=) c.2493C>T (p.Thr831=) c.2529C>T (p.Thr843=) c.2505C>T (p.Thr835=) | |
13 | g.108208776G>C | CA484975002 | LIG4 | c.2292C>G (p.Thr764=) c.2493C>G (p.Thr831=) c.2529C>G (p.Thr843=) c.2505C>G (p.Thr835=) | |
13 | g.108208776G>T | CA484975003 | LIG4 | c.2292C>A (p.Thr764=) c.2493C>A (p.Thr831=) c.2529C>A (p.Thr843=) c.2505C>A (p.Thr835=) | |
13 | g.108208777G>A | CA256179093 | LIG4 | c.2291C>T (p.Thr764Ile) c.2492C>T (p.Thr831Ile) c.2528C>T (p.Thr843Ile) c.2504C>T (p.Thr835Ile) | dbSNP gnomAD v4 |
13 | g.108208777G>C | CA388612867 | LIG4 | c.2291C>G (p.Thr764Ser) c.2492C>G (p.Thr831Ser) c.2528C>G (p.Thr843Ser) c.2504C>G (p.Thr835Ser) | |
13 | g.108208777G= | CA2117793903 | LIG4 | c.2291C= (p.Thr764=) c.2492C= (p.Thr831=) c.2528C= (p.Thr843=) c.2504C= (p.Thr835=) | |
13 | g.108208777G>T | CA388612868 | LIG4 | c.2291C>A (p.Thr764Asn) c.2492C>A (p.Thr831Asn) c.2528C>A (p.Thr843Asn) c.2504C>A (p.Thr835Asn) | ClinVar dbSNP |
13 | g.108208778T>A | CA388612870 | LIG4 | c.2290A>T (p.Thr764Ser) c.2491A>T (p.Thr831Ser) c.2527A>T (p.Thr843Ser) c.2503A>T (p.Thr835Ser) | |
13 | g.108208778T>C | CA388612872 | LIG4 | c.2290A>G (p.Thr764Ala) c.2491A>G (p.Thr831Ala) c.2527A>G (p.Thr843Ala) c.2503A>G (p.Thr835Ala) | |
13 | g.108208778T>G | CA388612875 | LIG4 | c.2290A>C (p.Thr764Pro) c.2491A>C (p.Thr831Pro) c.2527A>C (p.Thr843Pro) c.2503A>C (p.Thr835Pro) | |
13 | g.108208779A>C | CA388612877 | LIG4 | c.2289T>G (p.Ser763Arg) c.2490T>G (p.Ser830Arg) c.2526T>G (p.Ser842Arg) c.2502T>G (p.Ser834Arg) | |
13 | g.108208779A>G | CA484975006 | LIG4 | c.2289T>C (p.Ser763=) c.2490T>C (p.Ser830=) c.2526T>C (p.Ser842=) c.2502T>C (p.Ser834=) | |
13 | g.108208779A>T | CA388612878 | LIG4 | c.2289T>A (p.Ser763Arg) c.2490T>A (p.Ser830Arg) c.2526T>A (p.Ser842Arg) c.2502T>A (p.Ser834Arg) | |
13 | g.108208780C>A | CA388612880 | LIG4 | c.2288G>T (p.Ser763Ile) c.2489G>T (p.Ser830Ile) c.2525G>T (p.Ser842Ile) c.2501G>T (p.Ser834Ile) | dbSNP gnomAD v4 |
13 | g.108208780C= | CA2117793904 | LIG4 | c.2288G= (p.Ser763=) c.2489G= (p.Ser830=) c.2525G= (p.Ser842=) c.2501G= (p.Ser834=) | |
13 | g.108208780C>G | CA388612883 | LIG4 | c.2288G>C (p.Ser763Thr) c.2489G>C (p.Ser830Thr) c.2525G>C (p.Ser842Thr) c.2501G>C (p.Ser834Thr) | |
13 | g.108208780C>T | CA388612885 | LIG4 | c.2288G>A (p.Ser763Asn) c.2489G>A (p.Ser830Asn) c.2525G>A (p.Ser842Asn) c.2501G>A (p.Ser834Asn) | |
13 | g.108208781T>A | CA388612889 | LIG4 | c.2287A>T (p.Ser763Cys) c.2488A>T (p.Ser830Cys) c.2524A>T (p.Ser842Cys) c.2500A>T (p.Ser834Cys) | |
13 | g.108208781T>C | CA388612887 | LIG4 | c.2287A>G (p.Ser763Gly) c.2488A>G (p.Ser830Gly) c.2524A>G (p.Ser842Gly) c.2500A>G (p.Ser834Gly) | |
13 | g.108208781T>G | CA388612886 | LIG4 | c.2287A>C (p.Ser763Arg) c.2488A>C (p.Ser830Arg) c.2524A>C (p.Ser842Arg) c.2500A>C (p.Ser834Arg) | |
13 | g.108208782C>A | CA484975007 | LIG4 | c.2286G>T (p.Leu762=) c.2487G>T (p.Leu829=) c.2523G>T (p.Leu841=) c.2499G>T (p.Leu833=) | |
13 | g.108208782C>G | CA484975009 | LIG4 | c.2286G>C (p.Leu762=) c.2487G>C (p.Leu829=) c.2523G>C (p.Leu841=) c.2499G>C (p.Leu833=) | |
13 | g.108208782C>T | CA484975008 | LIG4 | c.2286G>A (p.Leu762=) c.2487G>A (p.Leu829=) c.2523G>A (p.Leu841=) c.2499G>A (p.Leu833=) | gnomAD v4 |
13 | g.108208783A= | CA2117793905 | LIG4 | c.2285T= (p.Leu762=) c.2486T= (p.Leu829=) c.2522T= (p.Leu841=) c.2498T= (p.Leu833=) | |
13 | g.108208783A>C | CA7043481 | LIG4 | c.2285T>G (p.Leu762Arg) c.2486T>G (p.Leu829Arg) c.2522T>G (p.Leu841Arg) c.2498T>G (p.Leu833Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208783A>G | CA7043482 | LIG4 | c.2285T>C (p.Leu762Pro) c.2486T>C (p.Leu829Pro) c.2522T>C (p.Leu841Pro) c.2498T>C (p.Leu833Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208783A>T | CA388612896 | LIG4 | c.2285T>A (p.Leu762Gln) c.2486T>A (p.Leu829Gln) c.2522T>A (p.Leu841Gln) c.2498T>A (p.Leu833Gln) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208784G>A | CA7043483 | LIG4 | c.2284C>T (p.Leu762=) c.2485C>T (p.Leu829=) c.2521C>T (p.Leu841=) c.2497C>T (p.Leu833=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.108208784G>C | CA388612901 | LIG4 | c.2284C>G (p.Leu762Val) c.2485C>G (p.Leu829Val) c.2521C>G (p.Leu841Val) c.2497C>G (p.Leu833Val) | |
13 | g.108208784G= | CA2117793906 | LIG4 | c.2284C= (p.Leu762=) c.2485C= (p.Leu829=) c.2521C= (p.Leu841=) c.2497C= (p.Leu833=) | |
13 | g.108208784G>T | CA388612902 | LIG4 | c.2284C>A (p.Leu762Met) c.2485C>A (p.Leu829Met) c.2521C>A (p.Leu841Met) c.2497C>A (p.Leu833Met) | |
13 | g.108208785G>A | CA484975010 | LIG4 | c.2283C>T (p.Asp761=) c.2484C>T (p.Asp828=) c.2520C>T (p.Asp840=) c.2496C>T (p.Asp832=) | dbSNP gnomAD v4 |
13 | g.108208785G>C | CA388612907 | LIG4 | c.2283C>G (p.Asp761Glu) c.2484C>G (p.Asp828Glu) c.2520C>G (p.Asp840Glu) c.2496C>G (p.Asp832Glu) | |
13 | g.108208785G= | CA2117793907 | LIG4 | c.2283C= (p.Asp761=) c.2484C= (p.Asp828=) c.2520C= (p.Asp840=) c.2496C= (p.Asp832=) | |
13 | g.108208785G>T | CA388612904 | LIG4 | c.2283C>A (p.Asp761Glu) c.2484C>A (p.Asp828Glu) c.2520C>A (p.Asp840Glu) c.2496C>A (p.Asp832Glu) | |
13 | g.108208786T>A | CA388612910 | LIG4 | c.2282A>T (p.Asp761Val) c.2483A>T (p.Asp828Val) c.2519A>T (p.Asp840Val) c.2495A>T (p.Asp832Val) | |
13 | g.108208786T>C | CA388612912 | LIG4 | c.2282A>G (p.Asp761Gly) c.2483A>G (p.Asp828Gly) c.2519A>G (p.Asp840Gly) c.2495A>G (p.Asp832Gly) | dbSNP |
13 | g.108208786T>G | CA388612913 | LIG4 | c.2282A>C (p.Asp761Ala) c.2483A>C (p.Asp828Ala) c.2519A>C (p.Asp840Ala) c.2495A>C (p.Asp832Ala) | |
13 | g.108208786T= | CA2117793908 | LIG4 | c.2282A= (p.Asp761=) c.2483A= (p.Asp828=) c.2519A= (p.Asp840=) c.2495A= (p.Asp832=) | |
13 | g.108208787C>A | CA7043484 | LIG4 | c.2281G>T (p.Asp761Tyr) c.2482G>T (p.Asp828Tyr) c.2518G>T (p.Asp840Tyr) c.2494G>T (p.Asp832Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208787C= | CA2117793910 | LIG4 | c.2281G= (p.Asp761=) c.2482G= (p.Asp828=) c.2518G= (p.Asp840=) c.2494G= (p.Asp832=) | |
13 | g.108208787C>G | CA388612918 | LIG4 | c.2281G>C (p.Asp761His) c.2482G>C (p.Asp828His) c.2518G>C (p.Asp840His) c.2494G>C (p.Asp832His) | |
13 | g.108208787C>T | CA388612921 | LIG4 | c.2281G>A (p.Asp761Asn) c.2482G>A (p.Asp828Asn) c.2518G>A (p.Asp840Asn) c.2494G>A (p.Asp832Asn) | ClinVar |
13 | g.108208787_108208790delinsCATT | CA2117793909 | LIG4 | c.2278_2281delinsAATG (p.Asn760=) c.2479_2482delinsAATG (p.Asn827=) c.2515_2518delinsAATG (p.Asn839=) c.2491_2494delinsAATG (p.Asn831=) | |
13 | g.108208788A>C | CA388612929 | LIG4 | c.2280T>G (p.Asn760Lys) c.2481T>G (p.Asn827Lys) c.2517T>G (p.Asn839Lys) c.2493T>G (p.Asn831Lys) | |
13 | g.108208788A>G | CA484975012 | LIG4 | c.2280T>C (p.Asn760=) c.2481T>C (p.Asn827=) c.2517T>C (p.Asn839=) c.2493T>C (p.Asn831=) | |
13 | g.108208788A>T | CA388612927 | LIG4 | c.2280T>A (p.Asn760Lys) c.2481T>A (p.Asn827Lys) c.2517T>A (p.Asn839Lys) c.2493T>A (p.Asn831Lys) | |
13 | g.108208789_108208791del | CA7043485 | LIG4 | c.2278_2280del (p.Asn760del) c.2479_2481del (p.Asn827del) c.2515_2517del (p.Asn839del) c.2491_2493del (p.Asn831del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208789T>A | CA388612932 | LIG4 | c.2279A>T (p.Asn760Ile) c.2480A>T (p.Asn827Ile) c.2516A>T (p.Asn839Ile) c.2492A>T (p.Asn831Ile) | |
13 | g.108208789T>C | CA388612934 | LIG4 | c.2279A>G (p.Asn760Ser) c.2480A>G (p.Asn827Ser) c.2516A>G (p.Asn839Ser) c.2492A>G (p.Asn831Ser) | ClinVar dbSNP |
13 | g.108208789T>G | CA388612937 | LIG4 | c.2279A>C (p.Asn760Thr) c.2480A>C (p.Asn827Thr) c.2516A>C (p.Asn839Thr) c.2492A>C (p.Asn831Thr) | |
13 | g.108208789T= | CA2117793911 | LIG4 | c.2279A= (p.Asn760=) c.2480A= (p.Asn827=) c.2516A= (p.Asn839=) c.2492A= (p.Asn831=) | |
13 | g.108208790T>A | CA388612938 | LIG4 | c.2278A>T (p.Asn760Tyr) c.2479A>T (p.Asn827Tyr) c.2515A>T (p.Asn839Tyr) c.2491A>T (p.Asn831Tyr) | |
13 | g.108208790T>C | CA388612940 | LIG4 | c.2278A>G (p.Asn760Asp) c.2479A>G (p.Asn827Asp) c.2515A>G (p.Asn839Asp) c.2491A>G (p.Asn831Asp) | dbSNP |
13 | g.108208790T>G | CA388612941 | LIG4 | c.2278A>C (p.Asn760His) c.2479A>C (p.Asn827His) c.2515A>C (p.Asn839His) c.2491A>C (p.Asn831His) | |
13 | g.108208790T= | CA2117793912 | LIG4 | c.2278A= (p.Asn760=) c.2479A= (p.Asn827=) c.2515A= (p.Asn839=) c.2491A= (p.Asn831=) | |
13 | g.108208793_108208795del | CA2575452310 | LIG4 | c.2276_2278del (p.Ile759del) c.2477_2479del (p.Ile826del) c.2513_2515del (p.Ile838del) c.2489_2491del (p.Ile830del) | gnomAD v4 |
13 | g.108208791A= | CA2117793913 | LIG4 | c.2277T= (p.Ile759=) c.2478T= (p.Ile826=) c.2514T= (p.Ile838=) c.2490T= (p.Ile830=) | |
13 | g.108208791A>C | CA388612942 | LIG4 | c.2277T>G (p.Ile759Met) c.2478T>G (p.Ile826Met) c.2514T>G (p.Ile838Met) c.2490T>G (p.Ile830Met) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208791A>G | CA484975015 | LIG4 | c.2277T>C (p.Ile759=) c.2478T>C (p.Ile826=) c.2514T>C (p.Ile838=) c.2490T>C (p.Ile830=) | gnomAD v4 |
13 | g.108208791A>T | CA484975016 | LIG4 | c.2277T>A (p.Ile759=) c.2478T>A (p.Ile826=) c.2514T>A (p.Ile838=) c.2490T>A (p.Ile830=) | gnomAD v4 |
13 | g.108208792A>C | CA388612943 | LIG4 | c.2276T>G (p.Ile759Ser) c.2477T>G (p.Ile826Ser) c.2513T>G (p.Ile838Ser) c.2489T>G (p.Ile830Ser) | gnomAD v4 |
13 | g.108208792A>G | CA388612945 | LIG4 | c.2276T>C (p.Ile759Thr) c.2477T>C (p.Ile826Thr) c.2513T>C (p.Ile838Thr) c.2489T>C (p.Ile830Thr) | gnomAD v4 |
13 | g.108208792A>T | CA388612947 | LIG4 | c.2276T>A (p.Ile759Asn) c.2477T>A (p.Ile826Asn) c.2513T>A (p.Ile838Asn) c.2489T>A (p.Ile830Asn) |