Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
13 | g.108208793T>A | CA388612949 | LIG4 | c.2275A>T (p.Ile759Phe) c.2476A>T (p.Ile826Phe) c.2512A>T (p.Ile838Phe) c.2488A>T (p.Ile830Phe) | |
13 | g.108208793T>C | CA388612951 | LIG4 | c.2275A>G (p.Ile759Val) c.2476A>G (p.Ile826Val) c.2512A>G (p.Ile838Val) c.2488A>G (p.Ile830Val) | |
13 | g.108208793T>G | CA388612953 | LIG4 | c.2275A>C (p.Ile759Leu) c.2476A>C (p.Ile826Leu) c.2512A>C (p.Ile838Leu) c.2488A>C (p.Ile830Leu) | |
13 | g.108208794A>C | CA484975018 | LIG4 | c.2274T>G (p.Val758=) c.2475T>G (p.Val825=) c.2511T>G (p.Val837=) c.2487T>G (p.Val829=) | |
13 | g.108208794A>G | CA484975019 | LIG4 | c.2274T>C (p.Val758=) c.2475T>C (p.Val825=) c.2511T>C (p.Val837=) c.2487T>C (p.Val829=) | |
13 | g.108208794A>T | CA484975020 | LIG4 | c.2274T>A (p.Val758=) c.2475T>A (p.Val825=) c.2511T>A (p.Val837=) c.2487T>A (p.Val829=) | gnomAD v4 |
13 | g.108208795A>C | CA388612961 | LIG4 | c.2273T>G (p.Val758Gly) c.2474T>G (p.Val825Gly) c.2510T>G (p.Val837Gly) c.2486T>G (p.Val829Gly) | |
13 | g.108208795A>G | CA388612957 | LIG4 | c.2273T>C (p.Val758Ala) c.2474T>C (p.Val825Ala) c.2510T>C (p.Val837Ala) c.2486T>C (p.Val829Ala) | |
13 | g.108208795A>T | CA388612958 | LIG4 | c.2273T>A (p.Val758Asp) c.2474T>A (p.Val825Asp) c.2510T>A (p.Val837Asp) c.2486T>A (p.Val829Asp) | gnomAD v4 |
13 | g.108208796C>A | CA388612965 | LIG4 | c.2272G>T (p.Val758Phe) c.2473G>T (p.Val825Phe) c.2509G>T (p.Val837Phe) c.2485G>T (p.Val829Phe) | |
13 | g.108208796C= | CA2117793914 | LIG4 | c.2272G= (p.Val758=) c.2473G= (p.Val825=) c.2509G= (p.Val837=) c.2485G= (p.Val829=) | |
13 | g.108208796C>G | CA388612968 | LIG4 | c.2272G>C (p.Val758Leu) c.2473G>C (p.Val825Leu) c.2509G>C (p.Val837Leu) c.2485G>C (p.Val829Leu) | |
13 | g.108208796C>T | CA388612971 | LIG4 | c.2272G>A (p.Val758Ile) c.2473G>A (p.Val825Ile) c.2509G>A (p.Val837Ile) c.2485G>A (p.Val829Ile) | gnomAD v4 |
13 | g.108208797A>C | CA484975023 | LIG4 | c.2271T>G (p.Ala757=) c.2472T>G (p.Ala824=) c.2508T>G (p.Ala836=) c.2484T>G (p.Ala828=) | |
13 | g.108208797A>G | CA484975025 | LIG4 | c.2271T>C (p.Ala757=) c.2472T>C (p.Ala824=) c.2508T>C (p.Ala836=) c.2484T>C (p.Ala828=) | |
13 | g.108208797A>T | CA484975027 | LIG4 | c.2271T>A (p.Ala757=) c.2472T>A (p.Ala824=) c.2508T>A (p.Ala836=) c.2484T>A (p.Ala828=) | |
13 | g.108208798_108208802dup | CA960044907 | LIG4 | c.2267_2271dup (p.Val758MetfsTer7) c.2468_2472dup (p.Val825MetfsTer7) c.2504_2508dup (p.Val837MetfsTer7) c.2480_2484dup (p.Val829MetfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208798G>A | CA388612972 | LIG4 | c.2270C>T (p.Ala757Val) c.2471C>T (p.Ala824Val) c.2507C>T (p.Ala836Val) c.2483C>T (p.Ala828Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208798G>C | CA388612975 | LIG4 | c.2270C>G (p.Ala757Gly) c.2471C>G (p.Ala824Gly) c.2507C>G (p.Ala836Gly) c.2483C>G (p.Ala828Gly) | |
13 | g.108208798G= | CA2117793915 | LIG4 | c.2270C= (p.Ala757=) c.2471C= (p.Ala824=) c.2507C= (p.Ala836=) c.2483C= (p.Ala828=) | |
13 | g.108208798G>T | CA388612977 | LIG4 | c.2270C>A (p.Ala757Asp) c.2471C>A (p.Ala824Asp) c.2507C>A (p.Ala836Asp) c.2483C>A (p.Ala828Asp) | |
13 | g.108208799C>A | CA256179151 | LIG4 | c.2269G>T (p.Ala757Ser) c.2470G>T (p.Ala824Ser) c.2506G>T (p.Ala836Ser) c.2482G>T (p.Ala828Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208799C= | CA2117793916 | LIG4 | c.2269G= (p.Ala757=) c.2470G= (p.Ala824=) c.2506G= (p.Ala836=) c.2482G= (p.Ala828=) | |
13 | g.108208799C>G | CA388612979 | LIG4 | c.2269G>C (p.Ala757Pro) c.2470G>C (p.Ala824Pro) c.2506G>C (p.Ala836Pro) c.2482G>C (p.Ala828Pro) | |
13 | g.108208799C>T | CA388612981 | LIG4 | c.2269G>A (p.Ala757Thr) c.2470G>A (p.Ala824Thr) c.2506G>A (p.Ala836Thr) c.2482G>A (p.Ala828Thr) | gnomAD v4 |
13 | g.108208800A>C | CA388612986 | LIG4 | c.2268T>G (p.Tyr756Ter) c.2469T>G (p.Tyr823Ter) c.2505T>G (p.Tyr835Ter) c.2481T>G (p.Tyr827Ter) | |
13 | g.108208800A>G | CA484975032 | LIG4 | c.2268T>C (p.Tyr756=) c.2469T>C (p.Tyr823=) c.2505T>C (p.Tyr835=) c.2481T>C (p.Tyr827=) | gnomAD v4 |
13 | g.108208800A>T | CA388612987 | LIG4 | c.2268T>A (p.Tyr756Ter) c.2469T>A (p.Tyr823Ter) c.2505T>A (p.Tyr835Ter) c.2481T>A (p.Tyr827Ter) | |
13 | g.108208801T>A | CA388612989 | LIG4 | c.2267A>T (p.Tyr756Phe) c.2468A>T (p.Tyr823Phe) c.2504A>T (p.Tyr835Phe) c.2480A>T (p.Tyr827Phe) | |
13 | g.108208801T>C | CA7043486 | LIG4 | c.2267A>G (p.Tyr756Cys) c.2468A>G (p.Tyr823Cys) c.2504A>G (p.Tyr835Cys) c.2480A>G (p.Tyr827Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208801T>G | CA388612992 | LIG4 | c.2267A>C (p.Tyr756Ser) c.2468A>C (p.Tyr823Ser) c.2504A>C (p.Tyr835Ser) c.2480A>C (p.Tyr827Ser) | |
13 | g.108208801T= | CA2117793917 | LIG4 | c.2267A= (p.Tyr756=) c.2468A= (p.Tyr823=) c.2504A= (p.Tyr835=) c.2480A= (p.Tyr827=) | |
13 | g.108208802A= | CA2117793918 | LIG4 | c.2266T= (p.Tyr756=) c.2467T= (p.Tyr823=) c.2503T= (p.Tyr835=) c.2479T= (p.Tyr827=) | |
13 | g.108208802A>C | CA7043488 | LIG4 | c.2266T>G (p.Tyr756Asp) c.2467T>G (p.Tyr823Asp) c.2503T>G (p.Tyr835Asp) c.2479T>G (p.Tyr827Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208802A>G | CA7043487 | LIG4 | c.2266T>C (p.Tyr756His) c.2467T>C (p.Tyr823His) c.2503T>C (p.Tyr835His) c.2479T>C (p.Tyr827His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208802A>T | CA388612997 | LIG4 | c.2266T>A (p.Tyr756Asn) c.2467T>A (p.Tyr823Asn) c.2503T>A (p.Tyr835Asn) c.2479T>A (p.Tyr827Asn) | |
13 | g.108208803C>A | CA484975036 | LIG4 | c.2265G>T (p.Ser755=) c.2466G>T (p.Ser822=) c.2502G>T (p.Ser834=) c.2478G>T (p.Ser826=) | ClinVar gnomAD v4 |
13 | g.108208803C= | CA2117793919 | LIG4 | c.2265G= (p.Ser755=) c.2466G= (p.Ser822=) c.2502G= (p.Ser834=) c.2478G= (p.Ser826=) | |
13 | g.108208803C>G | CA484975038 | LIG4 | c.2265G>C (p.Ser755=) c.2466G>C (p.Ser822=) c.2502G>C (p.Ser834=) c.2478G>C (p.Ser826=) | gnomAD v4 |
13 | g.108208803C>T | CA7043489 | LIG4 | c.2265G>A (p.Ser755=) c.2466G>A (p.Ser822=) c.2502G>A (p.Ser834=) c.2478G>A (p.Ser826=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208804G>A | CA7043490 | LIG4 | c.2264C>T (p.Ser755Leu) c.2465C>T (p.Ser822Leu) c.2501C>T (p.Ser834Leu) c.2477C>T (p.Ser826Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208804G>C | CA388613002 | LIG4 | c.2264C>G (p.Ser755Trp) c.2465C>G (p.Ser822Trp) c.2501C>G (p.Ser834Trp) c.2477C>G (p.Ser826Trp) | ClinVar gnomAD v4 |
13 | g.108208804G= | CA2117793920 | LIG4 | c.2264C= (p.Ser755=) c.2465C= (p.Ser822=) c.2501C= (p.Ser834=) c.2477C= (p.Ser826=) | |
13 | g.108208804G>T | CA388613005 | LIG4 | c.2264C>A (p.Ser755Ter) c.2465C>A (p.Ser822Ter) c.2501C>A (p.Ser834Ter) c.2477C>A (p.Ser826Ter) | |
13 | g.108208805A>C | CA388613008 | LIG4 | c.2263T>G (p.Ser755Ala) c.2464T>G (p.Ser822Ala) c.2500T>G (p.Ser834Ala) c.2476T>G (p.Ser826Ala) | |
13 | g.108208805A>G | CA388613011 | LIG4 | c.2263T>C (p.Ser755Pro) c.2464T>C (p.Ser822Pro) c.2500T>C (p.Ser834Pro) c.2476T>C (p.Ser826Pro) | |
13 | g.108208805A>T | CA388613013 | LIG4 | c.2263T>A (p.Ser755Thr) c.2464T>A (p.Ser822Thr) c.2500T>A (p.Ser834Thr) c.2476T>A (p.Ser826Thr) | |
13 | g.108208806G>A | CA484975041 | LIG4 | c.2262C>T (p.Asp754=) c.2463C>T (p.Asp821=) c.2499C>T (p.Asp833=) c.2475C>T (p.Asp825=) | gnomAD v4 |
13 | g.108208806G>C | CA388613014 | LIG4 | c.2262C>G (p.Asp754Glu) c.2463C>G (p.Asp821Glu) c.2499C>G (p.Asp833Glu) c.2475C>G (p.Asp825Glu) | |
13 | g.108208806G>T | CA388613015 | LIG4 | c.2262C>A (p.Asp754Glu) c.2463C>A (p.Asp821Glu) c.2499C>A (p.Asp833Glu) c.2475C>A (p.Asp825Glu) | |
13 | g.108208807T>A | CA388613019 | LIG4 | c.2261A>T (p.Asp754Val) c.2462A>T (p.Asp821Val) c.2498A>T (p.Asp833Val) c.2474A>T (p.Asp825Val) | COSMIC |
13 | g.108208807T>C | CA388613023 | LIG4 | c.2261A>G (p.Asp754Gly) c.2462A>G (p.Asp821Gly) c.2498A>G (p.Asp833Gly) c.2474A>G (p.Asp825Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.108208807T>G | CA388613025 | LIG4 | c.2261A>C (p.Asp754Ala) c.2462A>C (p.Asp821Ala) c.2498A>C (p.Asp833Ala) c.2474A>C (p.Asp825Ala) | |
13 | g.108208807T= | CA2117793921 | LIG4 | c.2261A= (p.Asp754=) c.2462A= (p.Asp821=) c.2498A= (p.Asp833=) c.2474A= (p.Asp825=) | |
13 | g.108208808C>A | CA388613030 | LIG4 | c.2260G>T (p.Asp754Tyr) c.2461G>T (p.Asp821Tyr) c.2497G>T (p.Asp833Tyr) c.2473G>T (p.Asp825Tyr) | |
13 | g.108208808C>G | CA388613036 | LIG4 | c.2260G>C (p.Asp754His) c.2461G>C (p.Asp821His) c.2497G>C (p.Asp833His) c.2473G>C (p.Asp825His) | gnomAD v4 |
13 | g.108208808C>T | CA388613033 | LIG4 | c.2260G>A (p.Asp754Asn) c.2461G>A (p.Asp821Asn) c.2497G>A (p.Asp833Asn) c.2473G>A (p.Asp825Asn) | |
13 | g.108208809C>A | CA388613042 | LIG4 | c.2259G>T (p.Leu753Phe) c.2460G>T (p.Leu820Phe) c.2496G>T (p.Leu832Phe) c.2472G>T (p.Leu824Phe) | |
13 | g.108208809C= | CA2117793922 | LIG4 | c.2259G= (p.Leu753=) c.2460G= (p.Leu820=) c.2496G= (p.Leu832=) c.2472G= (p.Leu824=) | |
13 | g.108208809C>G | CA7043491 | LIG4 | c.2259G>C (p.Leu753Phe) c.2460G>C (p.Leu820Phe) c.2496G>C (p.Leu832Phe) c.2472G>C (p.Leu824Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208809C>T | CA484975043 | LIG4 | c.2259G>A (p.Leu753=) c.2460G>A (p.Leu820=) c.2496G>A (p.Leu832=) c.2472G>A (p.Leu824=) | |
13 | g.108208810A>C | CA388613045 | LIG4 | c.2258T>G (p.Leu753Trp) c.2459T>G (p.Leu820Trp) c.2495T>G (p.Leu832Trp) c.2471T>G (p.Leu824Trp) | |
13 | g.108208810A>G | CA388613048 | LIG4 | c.2258T>C (p.Leu753Ser) c.2459T>C (p.Leu820Ser) c.2495T>C (p.Leu832Ser) c.2471T>C (p.Leu824Ser) | |
13 | g.108208810A>T | CA388613051 | LIG4 | c.2258T>A (p.Leu753Ter) c.2459T>A (p.Leu820Ter) c.2495T>A (p.Leu832Ter) c.2471T>A (p.Leu824Ter) | |
13 | g.108208811A= | CA2117793923 | LIG4 | c.2257T= (p.Leu753=) c.2458T= (p.Leu820=) c.2494T= (p.Leu832=) c.2470T= (p.Leu824=) | |
13 | g.108208811A>C | CA388613054 | LIG4 | c.2257T>G (p.Leu753Val) c.2458T>G (p.Leu820Val) c.2494T>G (p.Leu832Val) c.2470T>G (p.Leu824Val) | |
13 | g.108208811A>G | CA484975049 | LIG4 | c.2257T>C (p.Leu753=) c.2458T>C (p.Leu820=) c.2494T>C (p.Leu832=) c.2470T>C (p.Leu824=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208811A>T | CA388613056 | LIG4 | c.2257T>A (p.Leu753Met) c.2458T>A (p.Leu820Met) c.2494T>A (p.Leu832Met) c.2470T>A (p.Leu824Met) | |
13 | g.108208812A>C | CA388613063 | LIG4 | c.2256T>G (p.Tyr752Ter) c.2457T>G (p.Tyr819Ter) c.2493T>G (p.Tyr831Ter) c.2469T>G (p.Tyr823Ter) | |
13 | g.108208812A>G | CA484975051 | LIG4 | c.2256T>C (p.Tyr752=) c.2457T>C (p.Tyr819=) c.2493T>C (p.Tyr831=) c.2469T>C (p.Tyr823=) | |
13 | g.108208812A>T | CA388613065 | LIG4 | c.2256T>A (p.Tyr752Ter) c.2457T>A (p.Tyr819Ter) c.2493T>A (p.Tyr831Ter) c.2469T>A (p.Tyr823Ter) | |
13 | g.108208813T>A | CA388613067 | LIG4 | c.2255A>T (p.Tyr752Phe) c.2456A>T (p.Tyr819Phe) c.2492A>T (p.Tyr831Phe) c.2468A>T (p.Tyr823Phe) | |
13 | g.108208813T>C | CA388613070 | LIG4 | c.2255A>G (p.Tyr752Cys) c.2456A>G (p.Tyr819Cys) c.2492A>G (p.Tyr831Cys) c.2468A>G (p.Tyr823Cys) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208813T>G | CA388613073 | LIG4 | c.2255A>C (p.Tyr752Ser) c.2456A>C (p.Tyr819Ser) c.2492A>C (p.Tyr831Ser) c.2468A>C (p.Tyr823Ser) | |
13 | g.108208813T= | CA2117793924 | LIG4 | c.2255A= (p.Tyr752=) c.2456A= (p.Tyr819=) c.2492A= (p.Tyr831=) c.2468A= (p.Tyr823=) | |
13 | g.108208814A>C | CA388613075 | LIG4 | c.2254T>G (p.Tyr752Asp) c.2455T>G (p.Tyr819Asp) c.2491T>G (p.Tyr831Asp) c.2467T>G (p.Tyr823Asp) | |
13 | g.108208814A>G | CA388613078 | LIG4 | c.2254T>C (p.Tyr752His) c.2455T>C (p.Tyr819His) c.2491T>C (p.Tyr831His) c.2467T>C (p.Tyr823His) | |
13 | g.108208814A>T | CA388613079 | LIG4 | c.2254T>A (p.Tyr752Asn) c.2455T>A (p.Tyr819Asn) c.2491T>A (p.Tyr831Asn) c.2467T>A (p.Tyr823Asn) | |
13 | g.108208815_108208816dup | CA2575452311 | LIG4 | c.2253_2254dup (p.Tyr752PhefsTer12) c.2454_2455dup (p.Tyr819PhefsTer12) c.2490_2491dup (p.Tyr831PhefsTer12) c.2466_2467dup (p.Tyr823PhefsTer12) | |
13 | g.108208815A>C | CA484975057 | LIG4 | c.2253T>G (p.Val751=) c.2454T>G (p.Val818=) c.2490T>G (p.Val830=) c.2466T>G (p.Val822=) | |
13 | g.108208815A>G | CA484975060 | LIG4 | c.2253T>C (p.Val751=) c.2454T>C (p.Val818=) c.2490T>C (p.Val830=) c.2466T>C (p.Val822=) | |
13 | g.108208815A>T | CA484975061 | LIG4 | c.2253T>A (p.Val751=) c.2454T>A (p.Val818=) c.2490T>A (p.Val830=) c.2466T>A (p.Val822=) | |
13 | g.108208816A>C | CA388613080 | LIG4 | c.2252T>G (p.Val751Gly) c.2453T>G (p.Val818Gly) c.2489T>G (p.Val830Gly) c.2465T>G (p.Val822Gly) | |
13 | g.108208816A>G | CA388613082 | LIG4 | c.2252T>C (p.Val751Ala) c.2453T>C (p.Val818Ala) c.2489T>C (p.Val830Ala) c.2465T>C (p.Val822Ala) | |
13 | g.108208816A>T | CA388613081 | LIG4 | c.2252T>A (p.Val751Asp) c.2453T>A (p.Val818Asp) c.2489T>A (p.Val830Asp) c.2465T>A (p.Val822Asp) | |
13 | g.108208817C>A | CA388613084 | LIG4 | c.2251G>T (p.Val751Phe) c.2452G>T (p.Val818Phe) c.2488G>T (p.Val830Phe) c.2464G>T (p.Val822Phe) | |
13 | g.108208817C= | CA2117793925 | LIG4 | c.2251G= (p.Val751=) c.2452G= (p.Val818=) c.2488G= (p.Val830=) c.2464G= (p.Val822=) | |
13 | g.108208817C>G | CA388613087 | LIG4 | c.2251G>C (p.Val751Leu) c.2452G>C (p.Val818Leu) c.2488G>C (p.Val830Leu) c.2464G>C (p.Val822Leu) | |
13 | g.108208817C>T | CA7043492 | LIG4 | c.2251G>A (p.Val751Ile) c.2452G>A (p.Val818Ile) c.2488G>A (p.Val830Ile) c.2464G>A (p.Val822Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208818G>A | CA7043493 | LIG4 | c.2250C>T (p.Thr750=) c.2451C>T (p.Thr817=) c.2487C>T (p.Thr829=) c.2463C>T (p.Thr821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208818G>C | CA484975063 | LIG4 | c.2250C>G (p.Thr750=) c.2451C>G (p.Thr817=) c.2487C>G (p.Thr829=) c.2463C>G (p.Thr821=) | |
13 | g.108208818G= | CA2117793926 | LIG4 | c.2250C= (p.Thr750=) c.2451C= (p.Thr817=) c.2487C= (p.Thr829=) c.2463C= (p.Thr821=) | |
13 | g.108208818G>T | CA484975064 | LIG4 | c.2250C>A (p.Thr750=) c.2451C>A (p.Thr817=) c.2487C>A (p.Thr829=) c.2463C>A (p.Thr821=) | gnomAD v4 |
13 | g.108208819G>A | CA388613093 | LIG4 | c.2249C>T (p.Thr750Ile) c.2450C>T (p.Thr817Ile) c.2486C>T (p.Thr829Ile) c.2462C>T (p.Thr821Ile) | COSMIC |
13 | g.108208819G>C | CA388613096 | LIG4 | c.2249C>G (p.Thr750Ser) c.2450C>G (p.Thr817Ser) c.2486C>G (p.Thr829Ser) c.2462C>G (p.Thr821Ser) | |
13 | g.108208819G>T | CA388613100 | LIG4 | c.2249C>A (p.Thr750Asn) c.2450C>A (p.Thr817Asn) c.2486C>A (p.Thr829Asn) c.2462C>A (p.Thr821Asn) | gnomAD v4 |
13 | g.108208819_108208820delinsGT | CA2117793927 | LIG4 | c.2248_2249delinsAC (p.Thr750=) c.2449_2450delinsAC (p.Thr817=) c.2485_2486delinsAC (p.Thr829=) c.2461_2462delinsAC (p.Thr821=) | |
13 | g.108208822_108208823del | CA2539358168 | LIG4 | c.2248_2249del (p.Thr750ArgfsTer10) c.2449_2450del (p.Thr817ArgfsTer10) c.2485_2486del (p.Thr829ArgfsTer10) c.2461_2462del (p.Thr821ArgfsTer10) | |
13 | g.108208820del | CA694833143 | LIG4 | c.2248del (p.Thr750ProfsTer13) c.2449del (p.Thr817ProfsTer13) c.2485del (p.Thr829ProfsTer13) c.2461del (p.Thr821ProfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208820T>A | CA388613103 | LIG4 | c.2248A>T (p.Thr750Ser) c.2449A>T (p.Thr817Ser) c.2485A>T (p.Thr829Ser) c.2461A>T (p.Thr821Ser) | |
13 | g.108208820T>C | CA7043494 | LIG4 | c.2248A>G (p.Thr750Ala) c.2449A>G (p.Thr817Ala) c.2485A>G (p.Thr829Ala) c.2461A>G (p.Thr821Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208820T>G | CA7043495 | LIG4 | c.2248A>C (p.Thr750Pro) c.2449A>C (p.Thr817Pro) c.2485A>C (p.Thr829Pro) c.2461A>C (p.Thr821Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208820T= | CA2117793928 | LIG4 | c.2248A= (p.Thr750=) c.2449A= (p.Thr817=) c.2485A= (p.Thr829=) c.2461A= (p.Thr821=) | |
13 | g.108208821G>A | CA7043496 | LIG4 | c.2247C>T (p.His749=) c.2448C>T (p.His816=) c.2484C>T (p.His828=) c.2460C>T (p.His820=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208821G>C | CA388613112 | LIG4 | c.2247C>G (p.His749Gln) c.2448C>G (p.His816Gln) c.2484C>G (p.His828Gln) c.2460C>G (p.His820Gln) | COSMIC |
13 | g.108208821G= | CA2117793929 | LIG4 | c.2247C= (p.His749=) c.2448C= (p.His816=) c.2484C= (p.His828=) c.2460C= (p.His820=) | |
13 | g.108208821G>T | CA388613107 | LIG4 | c.2247C>A (p.His749Gln) c.2448C>A (p.His816Gln) c.2484C>A (p.His828Gln) c.2460C>A (p.His820Gln) | |
13 | g.108208822T>A | CA388613115 | LIG4 | c.2246A>T (p.His749Leu) c.2447A>T (p.His816Leu) c.2483A>T (p.His828Leu) c.2459A>T (p.His820Leu) | |
13 | g.108208822T>C | CA388613118 | LIG4 | c.2246A>G (p.His749Arg) c.2447A>G (p.His816Arg) c.2483A>G (p.His828Arg) c.2459A>G (p.His820Arg) | COSMIC |
13 | g.108208822T>G | CA388613120 | LIG4 | c.2246A>C (p.His749Pro) c.2447A>C (p.His816Pro) c.2483A>C (p.His828Pro) c.2459A>C (p.His820Pro) | |
13 | g.108208823G>A | CA388613122 | LIG4 | c.2245C>T (p.His749Tyr) c.2446C>T (p.His816Tyr) c.2482C>T (p.His828Tyr) c.2458C>T (p.His820Tyr) | |
13 | g.108208823G>C | CA388613123 | LIG4 | c.2245C>G (p.His749Asp) c.2446C>G (p.His816Asp) c.2482C>G (p.His828Asp) c.2458C>G (p.His820Asp) | |
13 | g.108208823G>T | CA388613124 | LIG4 | c.2245C>A (p.His749Asn) c.2446C>A (p.His816Asn) c.2482C>A (p.His828Asn) c.2458C>A (p.His820Asn) | |
13 | g.108208824G>A | CA484975073 | LIG4 | c.2244C>T (p.Arg748=) c.2445C>T (p.Arg815=) c.2481C>T (p.Arg827=) c.2457C>T (p.Arg819=) | |
13 | g.108208824G>C | CA484975071 | LIG4 | c.2244C>G (p.Arg748=) c.2445C>G (p.Arg815=) c.2481C>G (p.Arg827=) c.2457C>G (p.Arg819=) | |
13 | g.108208824G= | CA2117793930 | LIG4 | c.2244C= (p.Arg748=) c.2445C= (p.Arg815=) c.2481C= (p.Arg827=) c.2457C= (p.Arg819=) | |
13 | g.108208824G>T | CA256179228 | LIG4 | c.2244C>A (p.Arg748=) c.2445C>A (p.Arg815=) c.2481C>A (p.Arg827=) c.2457C>A (p.Arg819=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208825C>A | CA7043498 | LIG4 | c.2243G>T (p.Arg748Leu) c.2444G>T (p.Arg815Leu) c.2480G>T (p.Arg827Leu) c.2456G>T (p.Arg819Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208825C= | CA2117793931 | LIG4 | c.2243G= (p.Arg748=) c.2444G= (p.Arg815=) c.2480G= (p.Arg827=) c.2456G= (p.Arg819=) | |
13 | g.108208825C>G | CA388613127 | LIG4 | c.2243G>C (p.Arg748Pro) c.2444G>C (p.Arg815Pro) c.2480G>C (p.Arg827Pro) c.2456G>C (p.Arg819Pro) | |
13 | g.108208825C>T | CA7043497 | LIG4 | c.2243G>A (p.Arg748His) c.2444G>A (p.Arg815His) c.2480G>A (p.Arg827His) c.2456G>A (p.Arg819His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208826G>A | CA7043499 | LIG4 | c.2242C>T (p.Arg748Cys) c.2443C>T (p.Arg815Cys) c.2479C>T (p.Arg827Cys) c.2455C>T (p.Arg819Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208826G>C | CA388613130 | LIG4 | c.2242C>G (p.Arg748Gly) c.2443C>G (p.Arg815Gly) c.2479C>G (p.Arg827Gly) c.2455C>G (p.Arg819Gly) | |
13 | g.108208826G= | CA2117793932 | LIG4 | c.2242C= (p.Arg748=) c.2443C= (p.Arg815=) c.2479C= (p.Arg827=) c.2455C= (p.Arg819=) | |
13 | g.108208826G>T | CA388613132 | LIG4 | c.2242C>A (p.Arg748Ser) c.2443C>A (p.Arg815Ser) c.2479C>A (p.Arg827Ser) c.2455C>A (p.Arg819Ser) | |
13 | g.108208827T>A | CA484975075 | LIG4 | c.2241A>T (p.Arg747=) c.2442A>T (p.Arg814=) c.2478A>T (p.Arg826=) c.2454A>T (p.Arg818=) | COSMIC |
13 | g.108208827T>C | CA484975076 | LIG4 | c.2241A>G (p.Arg747=) c.2442A>G (p.Arg814=) c.2478A>G (p.Arg826=) c.2454A>G (p.Arg818=) | |
13 | g.108208827T>G | CA484975077 | LIG4 | c.2241A>C (p.Arg747=) c.2442A>C (p.Arg814=) c.2478A>C (p.Arg826=) c.2454A>C (p.Arg818=) | |
13 | g.108208828C>A | CA388613137 | LIG4 | c.2240G>T (p.Arg747Leu) c.2441G>T (p.Arg814Leu) c.2477G>T (p.Arg826Leu) c.2453G>T (p.Arg818Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208828C= | CA2117793933 | LIG4 | c.2240G= (p.Arg747=) c.2441G= (p.Arg814=) c.2477G= (p.Arg826=) c.2453G= (p.Arg818=) | |
13 | g.108208828C>G | CA388613136 | LIG4 | c.2240G>C (p.Arg747Pro) c.2441G>C (p.Arg814Pro) c.2477G>C (p.Arg826Pro) c.2453G>C (p.Arg818Pro) | |
13 | g.108208828C>T | CA388613134 | LIG4 | c.2240G>A (p.Arg747Gln) c.2441G>A (p.Arg814Gln) c.2477G>A (p.Arg826Gln) c.2453G>A (p.Arg818Gln) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208829G>A | CA118975 | LIG4 | c.2239C>T (p.Arg747Ter) c.2440C>T (p.Arg814Ter) c.2476C>T (p.Arg826Ter) c.2452C>T (p.Arg818Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208829G>C | CA388613139 | LIG4 | c.2239C>G (p.Arg747Gly) c.2440C>G (p.Arg814Gly) c.2476C>G (p.Arg826Gly) c.2452C>G (p.Arg818Gly) | gnomAD v4 |
13 | g.108208829G= | CA2117793934 | LIG4 | c.2239C= (p.Arg747=) c.2440C= (p.Arg814=) c.2476C= (p.Arg826=) c.2452C= (p.Arg818=) | |
13 | g.108208829G>T | CA484975078 | LIG4 | c.2239C>A (p.Arg747=) c.2440C>A (p.Arg814=) c.2476C>A (p.Arg826=) c.2452C>A (p.Arg818=) | ClinVar gnomAD v4 |
13 | g.108208830A>C | CA388613141 | LIG4 | c.2238T>G (p.Phe746Leu) c.2439T>G (p.Phe813Leu) c.2475T>G (p.Phe825Leu) c.2451T>G (p.Phe817Leu) | |
13 | g.108208830A>G | CA484975083 | LIG4 | c.2238T>C (p.Phe746=) c.2439T>C (p.Phe813=) c.2475T>C (p.Phe825=) c.2451T>C (p.Phe817=) | |
13 | g.108208830A>T | CA388613143 | LIG4 | c.2238T>A (p.Phe746Leu) c.2439T>A (p.Phe813Leu) c.2475T>A (p.Phe825Leu) c.2451T>A (p.Phe817Leu) | |
13 | g.108208831A>C | CA388613144 | LIG4 | c.2237T>G (p.Phe746Cys) c.2438T>G (p.Phe813Cys) c.2474T>G (p.Phe825Cys) c.2450T>G (p.Phe817Cys) | |
13 | g.108208831A>G | CA388613146 | LIG4 | c.2237T>C (p.Phe746Ser) c.2438T>C (p.Phe813Ser) c.2474T>C (p.Phe825Ser) c.2450T>C (p.Phe817Ser) | |
13 | g.108208831A>T | CA388613148 | LIG4 | c.2237T>A (p.Phe746Tyr) c.2438T>A (p.Phe813Tyr) c.2474T>A (p.Phe825Tyr) c.2450T>A (p.Phe817Tyr) | |
13 | g.108208832A= | CA2117793935 | LIG4 | c.2236T= (p.Phe746=) c.2437T= (p.Phe813=) c.2473T= (p.Phe825=) c.2449T= (p.Phe817=) | |
13 | g.108208832A>C | CA388613150 | LIG4 | c.2236T>G (p.Phe746Val) c.2437T>G (p.Phe813Val) c.2473T>G (p.Phe825Val) c.2449T>G (p.Phe817Val) | |
13 | g.108208832A>G | CA388613151 | LIG4 | c.2236T>C (p.Phe746Leu) c.2437T>C (p.Phe813Leu) c.2473T>C (p.Phe825Leu) c.2449T>C (p.Phe817Leu) | dbSNP |
13 | g.108208832A>T | CA388613153 | LIG4 | c.2236T>A (p.Phe746Ile) c.2437T>A (p.Phe813Ile) c.2473T>A (p.Phe825Ile) c.2449T>A (p.Phe817Ile) | |
13 | g.108208833C>A | CA388613154 | LIG4 | c.2235G>T (p.Met745Ile) c.2436G>T (p.Met812Ile) c.2472G>T (p.Met824Ile) c.2448G>T (p.Met816Ile) | |
13 | g.108208833C= | CA2117793936 | LIG4 | c.2235G= (p.Met745=) c.2436G= (p.Met812=) c.2472G= (p.Met824=) c.2448G= (p.Met816=) | |
13 | g.108208833C>G | CA388613156 | LIG4 | c.2235G>C (p.Met745Ile) c.2436G>C (p.Met812Ile) c.2472G>C (p.Met824Ile) c.2448G>C (p.Met816Ile) | |
13 | g.108208833C>T | CA7043500 | LIG4 | c.2235G>A (p.Met745Ile) c.2436G>A (p.Met812Ile) c.2472G>A (p.Met824Ile) c.2448G>A (p.Met816Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208834A= | CA2117793937 | LIG4 | c.2234T= (p.Met745=) c.2435T= (p.Met812=) c.2471T= (p.Met824=) c.2447T= (p.Met816=) | |
13 | g.108208834A>C | CA7043501 | LIG4 | c.2234T>G (p.Met745Arg) c.2435T>G (p.Met812Arg) c.2471T>G (p.Met824Arg) c.2447T>G (p.Met816Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208834A>G | CA388613160 | LIG4 | c.2234T>C (p.Met745Thr) c.2435T>C (p.Met812Thr) c.2471T>C (p.Met824Thr) c.2447T>C (p.Met816Thr) | gnomAD v4 |
13 | g.108208834A>T | CA388613159 | LIG4 | c.2234T>A (p.Met745Lys) c.2435T>A (p.Met812Lys) c.2471T>A (p.Met824Lys) c.2447T>A (p.Met816Lys) | |
13 | g.108208835T>A | CA388613161 | LIG4 | c.2233A>T (p.Met745Leu) c.2434A>T (p.Met812Leu) c.2470A>T (p.Met824Leu) c.2446A>T (p.Met816Leu) | |
13 | g.108208835T>C | CA7043502 | LIG4 | c.2233A>G (p.Met745Val) c.2434A>G (p.Met812Val) c.2470A>G (p.Met824Val) c.2446A>G (p.Met816Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208835T>G | CA388613163 | LIG4 | c.2233A>C (p.Met745Leu) c.2434A>C (p.Met812Leu) c.2470A>C (p.Met824Leu) c.2446A>C (p.Met816Leu) | |
13 | g.108208835T= | CA2117793938 | LIG4 | c.2233A= (p.Met745=) c.2434A= (p.Met812=) c.2470A= (p.Met824=) c.2446A= (p.Met816=) | |
13 | g.108208836A>C | CA388613165 | LIG4 | c.2232T>G (p.Ser744Arg) c.2433T>G (p.Ser811Arg) c.2469T>G (p.Ser823Arg) c.2445T>G (p.Ser815Arg) | |
13 | g.108208836A>G | CA484975192 | LIG4 | c.2232T>C (p.Ser744=) c.2433T>C (p.Ser811=) c.2469T>C (p.Ser823=) c.2445T>C (p.Ser815=) | gnomAD v4 |
13 | g.108208836A>T | CA388613166 | LIG4 | c.2232T>A (p.Ser744Arg) c.2433T>A (p.Ser811Arg) c.2469T>A (p.Ser823Arg) c.2445T>A (p.Ser815Arg) | |
13 | g.108208837C>A | CA388613168 | LIG4 | c.2231G>T (p.Ser744Ile) c.2432G>T (p.Ser811Ile) c.2468G>T (p.Ser823Ile) c.2444G>T (p.Ser815Ile) | |
13 | g.108208837C>G | CA388613170 | LIG4 | c.2231G>C (p.Ser744Thr) c.2432G>C (p.Ser811Thr) c.2468G>C (p.Ser823Thr) c.2444G>C (p.Ser815Thr) | |
13 | g.108208837C>T | CA388613172 | LIG4 | c.2231G>A (p.Ser744Asn) c.2432G>A (p.Ser811Asn) c.2468G>A (p.Ser823Asn) c.2444G>A (p.Ser815Asn) | |
13 | g.108208838T>A | CA388613173 | LIG4 | c.2230A>T (p.Ser744Cys) c.2431A>T (p.Ser811Cys) c.2467A>T (p.Ser823Cys) c.2443A>T (p.Ser815Cys) | |
13 | g.108208838T>C | CA388613175 | LIG4 | c.2230A>G (p.Ser744Gly) c.2431A>G (p.Ser811Gly) c.2467A>G (p.Ser823Gly) c.2443A>G (p.Ser815Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208838T>G | CA388613176 | LIG4 | c.2230A>C (p.Ser744Arg) c.2431A>C (p.Ser811Arg) c.2467A>C (p.Ser823Arg) c.2443A>C (p.Ser815Arg) | |
13 | g.108208838T= | CA2117793939 | LIG4 | c.2230A= (p.Ser744=) c.2431A= (p.Ser811=) c.2467A= (p.Ser823=) c.2443A= (p.Ser815=) | |
13 | g.108208838_108208843delinsTGAGAG | CA2117793940 | LIG4 | c.2225_2230delinsCTCTCA (p.Pro742=) c.2426_2431delinsCTCTCA (p.Pro809=) c.2462_2467delinsCTCTCA (p.Pro821=) c.2438_2443delinsCTCTCA (p.Pro813=) | |
13 | g.108208839G>A | CA7043503 | LIG4 | c.2229C>T (p.Leu743=) c.2430C>T (p.Leu810=) c.2466C>T (p.Leu822=) c.2442C>T (p.Leu814=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208839G>C | CA484975199 | LIG4 | c.2229C>G (p.Leu743=) c.2430C>G (p.Leu810=) c.2466C>G (p.Leu822=) c.2442C>G (p.Leu814=) | dbSNP |
13 | g.108208839G= | CA2117793941 | LIG4 | c.2229C= (p.Leu743=) c.2430C= (p.Leu810=) c.2466C= (p.Leu822=) c.2442C= (p.Leu814=) | |
13 | g.108208839G>T | CA484975197 | LIG4 | c.2229C>A (p.Leu743=) c.2430C>A (p.Leu810=) c.2466C>A (p.Leu822=) c.2442C>A (p.Leu814=) | |
13 | g.108208844_108208848del | CA960044961 | LIG4 | c.2225_2229del (p.Pro742GlnfsTer17) c.2426_2430del (p.Pro809GlnfsTer17) c.2462_2466del (p.Pro821GlnfsTer17) c.2438_2442del (p.Pro813GlnfsTer17) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208840A>C | CA388613179 | LIG4 | c.2228T>G (p.Leu743Arg) c.2429T>G (p.Leu810Arg) c.2465T>G (p.Leu822Arg) c.2441T>G (p.Leu814Arg) | |
13 | g.108208840A>G | CA388613180 | LIG4 | c.2228T>C (p.Leu743Pro) c.2429T>C (p.Leu810Pro) c.2465T>C (p.Leu822Pro) c.2441T>C (p.Leu814Pro) | |
13 | g.108208840A>T | CA388613182 | LIG4 | c.2228T>A (p.Leu743His) c.2429T>A (p.Leu810His) c.2465T>A (p.Leu822His) c.2441T>A (p.Leu814His) | |
13 | g.108208841G>A | CA7043504 | LIG4 | c.2227C>T (p.Leu743Phe) c.2428C>T (p.Leu810Phe) c.2464C>T (p.Leu822Phe) c.2440C>T (p.Leu814Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208841G>C | CA388613185 | LIG4 | c.2227C>G (p.Leu743Val) c.2428C>G (p.Leu810Val) c.2464C>G (p.Leu822Val) c.2440C>G (p.Leu814Val) | COSMIC |
13 | g.108208841G= | CA2117793942 | LIG4 | c.2227C= (p.Leu743=) c.2428C= (p.Leu810=) c.2464C= (p.Leu822=) c.2440C= (p.Leu814=) | |
13 | g.108208841G>T | CA388613186 | LIG4 | c.2227C>A (p.Leu743Ile) c.2428C>A (p.Leu810Ile) c.2464C>A (p.Leu822Ile) c.2440C>A (p.Leu814Ile) | |
13 | g.108208842A= | CA2117793943 | LIG4 | c.2226T= (p.Pro742=) c.2427T= (p.Pro809=) c.2463T= (p.Pro821=) c.2439T= (p.Pro813=) | |
13 | g.108208842A>C | CA484975204 | LIG4 | c.2226T>G (p.Pro742=) c.2427T>G (p.Pro809=) c.2463T>G (p.Pro821=) c.2439T>G (p.Pro813=) | |
13 | g.108208842A>G | CA484975205 | LIG4 | c.2226T>C (p.Pro742=) c.2427T>C (p.Pro809=) c.2463T>C (p.Pro821=) c.2439T>C (p.Pro813=) | dbSNP gnomAD v2 |
13 | g.108208842A>T | CA484975207 | LIG4 | c.2226T>A (p.Pro742=) c.2427T>A (p.Pro809=) c.2463T>A (p.Pro821=) c.2439T>A (p.Pro813=) | ClinVar |
13 | g.108208842dup | CA2739277735 | LIG4 | c.2226dup (p.Leu743SerfsTer18) c.2427dup (p.Leu810SerfsTer18) c.2463dup (p.Leu822SerfsTer18) c.2439dup (p.Leu814SerfsTer18) | ClinVar |
13 | g.108208843G>A | CA388613188 | LIG4 | c.2225C>T (p.Pro742Leu) c.2426C>T (p.Pro809Leu) c.2462C>T (p.Pro821Leu) c.2438C>T (p.Pro813Leu) | ClinVar gnomAD v4 |
13 | g.108208843G>C | CA388613190 | LIG4 | c.2225C>G (p.Pro742Arg) c.2426C>G (p.Pro809Arg) c.2462C>G (p.Pro821Arg) c.2438C>G (p.Pro813Arg) | |
13 | g.108208843G>T | CA388613189 | LIG4 | c.2225C>A (p.Pro742His) c.2426C>A (p.Pro809His) c.2462C>A (p.Pro821His) c.2438C>A (p.Pro813His) |