Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108208752A>CCA484974971LIG4c.2316T>G (p.Ala772=)
c.2517T>G (p.Ala839=)
c.2553T>G (p.Ala851=)
c.2529T>G (p.Ala843=)
13g.108208752A>GCA484974972LIG4c.2316T>C (p.Ala772=)
c.2517T>C (p.Ala839=)
c.2553T>C (p.Ala851=)
c.2529T>C (p.Ala843=)
 ClinVar
13g.108208752A>TCA484974974LIG4c.2316T>A (p.Ala772=)
c.2517T>A (p.Ala839=)
c.2553T>A (p.Ala851=)
c.2529T>A (p.Ala843=)
13g.108208753G>ACA388612728LIG4c.2315C>T (p.Ala772Val)
c.2516C>T (p.Ala839Val)
c.2552C>T (p.Ala851Val)
c.2528C>T (p.Ala843Val)
13g.108208753G>CCA388612729LIG4c.2315C>G (p.Ala772Gly)
c.2516C>G (p.Ala839Gly)
c.2552C>G (p.Ala851Gly)
c.2528C>G (p.Ala843Gly)
13g.108208753G>TCA388612736LIG4c.2315C>A (p.Ala772Asp)
c.2516C>A (p.Ala839Asp)
c.2552C>A (p.Ala851Asp)
c.2528C>A (p.Ala843Asp)
13g.108208754C>ACA388612738LIG4c.2314G>T (p.Ala772Ser)
c.2515G>T (p.Ala839Ser)
c.2551G>T (p.Ala851Ser)
c.2527G>T (p.Ala843Ser)
13g.108208754C=CA2117793893LIG4c.2314G= (p.Ala772=)
c.2515G= (p.Ala839=)
c.2551G= (p.Ala851=)
c.2527G= (p.Ala843=)
13g.108208754C>GCA388612739LIG4c.2314G>C (p.Ala772Pro)
c.2515G>C (p.Ala839Pro)
c.2551G>C (p.Ala851Pro)
c.2527G>C (p.Ala843Pro)
13g.108208754C>TCA388612740LIG4c.2314G>A (p.Ala772Thr)
c.2515G>A (p.Ala839Thr)
c.2551G>A (p.Ala851Thr)
c.2527G>A (p.Ala843Thr)
 dbSNP
13g.108208755T>ACA388612745LIG4c.2313A>T (p.Leu771Phe)
c.2514A>T (p.Leu838Phe)
c.2550A>T (p.Leu850Phe)
c.2526A>T (p.Leu842Phe)
13g.108208755T>CCA484974977LIG4c.2313A>G (p.Leu771=)
c.2514A>G (p.Leu838=)
c.2550A>G (p.Leu850=)
c.2526A>G (p.Leu842=)
13g.108208755T>GCA388612742LIG4c.2313A>C (p.Leu771Phe)
c.2514A>C (p.Leu838Phe)
c.2550A>C (p.Leu850Phe)
c.2526A>C (p.Leu842Phe)
13g.108208756A>CCA388612749LIG4c.2312T>G (p.Leu771Ter)
c.2513T>G (p.Leu838Ter)
c.2549T>G (p.Leu850Ter)
c.2525T>G (p.Leu842Ter)
13g.108208756A>GCA388612753LIG4c.2312T>C (p.Leu771Ser)
c.2513T>C (p.Leu838Ser)
c.2549T>C (p.Leu850Ser)
c.2525T>C (p.Leu842Ser)
13g.108208756A>TCA388612751LIG4c.2312T>A (p.Leu771Ter)
c.2513T>A (p.Leu838Ter)
c.2549T>A (p.Leu850Ter)
c.2525T>A (p.Leu842Ter)
13g.108208757A>CCA388612757LIG4c.2311T>G (p.Leu771Val)
c.2512T>G (p.Leu838Val)
c.2548T>G (p.Leu850Val)
c.2524T>G (p.Leu842Val)
13g.108208757A>GCA484974981LIG4c.2311T>C (p.Leu771=)
c.2512T>C (p.Leu838=)
c.2548T>C (p.Leu850=)
c.2524T>C (p.Leu842=)
13g.108208757A>TCA388612759LIG4c.2311T>A (p.Leu771Ile)
c.2512T>A (p.Leu838Ile)
c.2548T>A (p.Leu850Ile)
c.2524T>A (p.Leu842Ile)
13g.108208758C>ACA256179091LIG4c.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
13g.108208758C=CA2117793894LIG4c.2310G= (p.Arg770=)
c.2511G= (p.Arg837=)
c.2547G= (p.Arg849=)
c.2523G= (p.Arg841=)
13g.108208758C>GCA388612761LIG4c.2310G>C (p.Arg770Ser)
c.2511G>C (p.Arg837Ser)
c.2547G>C (p.Arg849Ser)
c.2523G>C (p.Arg841Ser)
 gnomAD v4
13g.108208758C>TCA484974982LIG4c.2310G>A (p.Arg770=)
c.2511G>A (p.Arg837=)
c.2547G>A (p.Arg849=)
c.2523G>A (p.Arg841=)
 ClinVar dbSNP
13g.108208759C>ACA388612763LIG4c.2309G>T (p.Arg770Met)
c.2510G>T (p.Arg837Met)
c.2546G>T (p.Arg849Met)
c.2522G>T (p.Arg841Met)
13g.108208759C=CA2117793895LIG4c.2309G= (p.Arg770=)
c.2510G= (p.Arg837=)
c.2546G= (p.Arg849=)
c.2522G= (p.Arg841=)
13g.108208759C>GCA388612766LIG4c.2309G>C (p.Arg770Thr)
c.2510G>C (p.Arg837Thr)
c.2546G>C (p.Arg849Thr)
c.2522G>C (p.Arg841Thr)
 dbSNP
13g.108208759C>TCA388612769LIG4c.2309G>A (p.Arg770Lys)
c.2510G>A (p.Arg837Lys)
c.2546G>A (p.Arg849Lys)
c.2522G>A (p.Arg841Lys)
 gnomAD v4
13g.108208760T>ACA388612772LIG4c.2308A>T (p.Arg770Trp)
c.2509A>T (p.Arg837Trp)
c.2545A>T (p.Arg849Trp)
c.2521A>T (p.Arg841Trp)
13g.108208760T>CCA388612775LIG4c.2308A>G (p.Arg770Gly)
c.2509A>G (p.Arg837Gly)
c.2545A>G (p.Arg849Gly)
c.2521A>G (p.Arg841Gly)
13g.108208760T>GCA484974984LIG4c.2308A>C (p.Arg770=)
c.2509A>C (p.Arg837=)
c.2545A>C (p.Arg849=)
c.2521A>C (p.Arg841=)
13g.108208761delCA2695218918LIG4c.2308del (p.Arg770GlyfsTer2)
c.2509del (p.Arg837GlyfsTer2)
c.2545del (p.Arg849GlyfsTer2)
c.2521del (p.Arg841GlyfsTer2)
13g.108208761T>ACA484974985LIG4c.2307A>T (p.Thr769=)
c.2508A>T (p.Thr836=)
c.2544A>T (p.Thr848=)
c.2520A>T (p.Thr840=)
13g.108208761T>CCA484974986LIG4c.2307A>G (p.Thr769=)
c.2508A>G (p.Thr836=)
c.2544A>G (p.Thr848=)
c.2520A>G (p.Thr840=)
 dbSNP gnomAD v3 gnomAD v4
13g.108208761T>GCA484974987LIG4c.2307A>C (p.Thr769=)
c.2508A>C (p.Thr836=)
c.2544A>C (p.Thr848=)
c.2520A>C (p.Thr840=)
13g.108208761T=CA2117793896LIG4c.2307A= (p.Thr769=)
c.2508A= (p.Thr836=)
c.2544A= (p.Thr848=)
c.2520A= (p.Thr840=)
13g.108208762G>ACA7043479LIG4c.2306C>T (p.Thr769Ile)
c.2507C>T (p.Thr836Ile)
c.2543C>T (p.Thr848Ile)
c.2519C>T (p.Thr840Ile)
 dbSNP ExAC gnomAD v2
13g.108208762G>CCA388612779LIG4c.2306C>G (p.Thr769Arg)
c.2507C>G (p.Thr836Arg)
c.2543C>G (p.Thr848Arg)
c.2519C>G (p.Thr840Arg)
 gnomAD v4
13g.108208762G=CA2117793897LIG4c.2306C= (p.Thr769=)
c.2507C= (p.Thr836=)
c.2543C= (p.Thr848=)
c.2519C= (p.Thr840=)
13g.108208762G>TCA388612781LIG4c.2306C>A (p.Thr769Lys)
c.2507C>A (p.Thr836Lys)
c.2543C>A (p.Thr848Lys)
c.2519C>A (p.Thr840Lys)
 gnomAD v4
13g.108208763T>ACA388612790LIG4c.2305A>T (p.Thr769Ser)
c.2506A>T (p.Thr836Ser)
c.2542A>T (p.Thr848Ser)
c.2518A>T (p.Thr840Ser)
13g.108208763T>CCA388612784LIG4c.2305A>G (p.Thr769Ala)
c.2506A>G (p.Thr836Ala)
c.2542A>G (p.Thr848Ala)
c.2518A>G (p.Thr840Ala)
13g.108208763T>GCA388612787LIG4c.2305A>C (p.Thr769Pro)
c.2506A>C (p.Thr836Pro)
c.2542A>C (p.Thr848Pro)
c.2518A>C (p.Thr840Pro)
13g.108208764C>ACA484974989LIG4c.2304G>T (p.Gly768=)
c.2505G>T (p.Gly835=)
c.2541G>T (p.Gly847=)
c.2517G>T (p.Gly839=)
13g.108208764C>GCA484974990LIG4c.2304G>C (p.Gly768=)
c.2505G>C (p.Gly835=)
c.2541G>C (p.Gly847=)
c.2517G>C (p.Gly839=)
13g.108208764C>TCA484974991LIG4c.2304G>A (p.Gly768=)
c.2505G>A (p.Gly835=)
c.2541G>A (p.Gly847=)
c.2517G>A (p.Gly839=)
 ClinVar
13g.108208765C>ACA388612795LIG4c.2303G>T (p.Gly768Val)
c.2504G>T (p.Gly835Val)
c.2540G>T (p.Gly847Val)
c.2516G>T (p.Gly839Val)
13g.108208765C=CA2117793898LIG4c.2303G= (p.Gly768=)
c.2504G= (p.Gly835=)
c.2540G= (p.Gly847=)
c.2516G= (p.Gly839=)
13g.108208765C>GCA388612796LIG4c.2303G>C (p.Gly768Ala)
c.2504G>C (p.Gly835Ala)
c.2540G>C (p.Gly847Ala)
c.2516G>C (p.Gly839Ala)
 dbSNP gnomAD v4
13g.108208765C>TCA388612799LIG4c.2303G>A (p.Gly768Glu)
c.2504G>A (p.Gly835Glu)
c.2540G>A (p.Gly847Glu)
c.2516G>A (p.Gly839Glu)
13g.108208766C>ACA388612802LIG4c.2302G>T (p.Gly768Trp)
c.2503G>T (p.Gly835Trp)
c.2539G>T (p.Gly847Trp)
c.2515G>T (p.Gly839Trp)
13g.108208766C=CA2117793899LIG4c.2302G= (p.Gly768=)
c.2503G= (p.Gly835=)
c.2539G= (p.Gly847=)
c.2515G= (p.Gly839=)
13g.108208766C>GCA388612804LIG4c.2302G>C (p.Gly768Arg)
c.2503G>C (p.Gly835Arg)
c.2539G>C (p.Gly847Arg)
c.2515G>C (p.Gly839Arg)
 gnomAD v4
13g.108208766C>TCA388612806LIG4c.2302G>A (p.Gly768Arg)
c.2503G>A (p.Gly835Arg)
c.2539G>A (p.Gly847Arg)
c.2515G>A (p.Gly839Arg)
 dbSNP gnomAD v3 gnomAD v4
13g.108208767C>ACA388612809LIG4c.2301G>T (p.Glu767Asp)
c.2502G>T (p.Glu834Asp)
c.2538G>T (p.Glu846Asp)
c.2514G>T (p.Glu838Asp)
13g.108208767C>GCA388612810LIG4c.2301G>C (p.Glu767Asp)
c.2502G>C (p.Glu834Asp)
c.2538G>C (p.Glu846Asp)
c.2514G>C (p.Glu838Asp)
13g.108208767C>TCA484974992LIG4c.2301G>A (p.Glu767=)
c.2502G>A (p.Glu834=)
c.2538G>A (p.Glu846=)
c.2514G>A (p.Glu838=)
13g.108208768T>ACA388612813LIG4c.2300A>T (p.Glu767Val)
c.2501A>T (p.Glu834Val)
c.2537A>T (p.Glu846Val)
c.2513A>T (p.Glu838Val)
 COSMIC
13g.108208768T>CCA388612814LIG4c.2300A>G (p.Glu767Gly)
c.2501A>G (p.Glu834Gly)
c.2537A>G (p.Glu846Gly)
c.2513A>G (p.Glu838Gly)
13g.108208768T>GCA388612817LIG4c.2300A>C (p.Glu767Ala)
c.2501A>C (p.Glu834Ala)
c.2537A>C (p.Glu846Ala)
c.2513A>C (p.Glu838Ala)
13g.108208769C>ACA388612824LIG4c.2299G>T (p.Glu767Ter)
c.2500G>T (p.Glu834Ter)
c.2536G>T (p.Glu846Ter)
c.2512G>T (p.Glu838Ter)
13g.108208769C>GCA388612823LIG4c.2299G>C (p.Glu767Gln)
c.2500G>C (p.Glu834Gln)
c.2536G>C (p.Glu846Gln)
c.2512G>C (p.Glu838Gln)
13g.108208769C>TCA388612822LIG4c.2299G>A (p.Glu767Lys)
c.2500G>A (p.Glu834Lys)
c.2536G>A (p.Glu846Lys)
c.2512G>A (p.Glu838Lys)
13g.108208770A=CA2117793900LIG4c.2298T= (p.Asn766=)
c.2499T= (p.Asn833=)
c.2535T= (p.Asn845=)
c.2511T= (p.Asn837=)
13g.108208770A>CCA388612825LIG4c.2298T>G (p.Asn766Lys)
c.2499T>G (p.Asn833Lys)
c.2535T>G (p.Asn845Lys)
c.2511T>G (p.Asn837Lys)
13g.108208770A>GCA7043480LIG4c.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
13g.108208770A>TCA388612827LIG4c.2298T>A (p.Asn766Lys)
c.2499T>A (p.Asn833Lys)
c.2535T>A (p.Asn845Lys)
c.2511T>A (p.Asn837Lys)
13g.108208771T>ACA388612834LIG4c.2297A>T (p.Asn766Ile)
c.2498A>T (p.Asn833Ile)
c.2534A>T (p.Asn845Ile)
c.2510A>T (p.Asn837Ile)
13g.108208771T>CCA388612835LIG4c.2297A>G (p.Asn766Ser)
c.2498A>G (p.Asn833Ser)
c.2534A>G (p.Asn845Ser)
c.2510A>G (p.Asn837Ser)
13g.108208771T>GCA388612838LIG4c.2297A>C (p.Asn766Thr)
c.2498A>C (p.Asn833Thr)
c.2534A>C (p.Asn845Thr)
c.2510A>C (p.Asn837Thr)
13g.108208772T>ACA388612847LIG4c.2296A>T (p.Asn766Tyr)
c.2497A>T (p.Asn833Tyr)
c.2533A>T (p.Asn845Tyr)
c.2509A>T (p.Asn837Tyr)
13g.108208772T>CCA388612842LIG4c.2296A>G (p.Asn766Asp)
c.2497A>G (p.Asn833Asp)
c.2533A>G (p.Asn845Asp)
c.2509A>G (p.Asn837Asp)
13g.108208772T>GCA388612845LIG4c.2296A>C (p.Asn766His)
c.2497A>C (p.Asn833His)
c.2533A>C (p.Asn845His)
c.2509A>C (p.Asn837His)
13g.108208773T>ACA388612850LIG4c.2295A>T (p.Lys765Asn)
c.2496A>T (p.Lys832Asn)
c.2532A>T (p.Lys844Asn)
c.2508A>T (p.Lys836Asn)
13g.108208773T>CCA484974997LIG4c.2295A>G (p.Lys765=)
c.2496A>G (p.Lys832=)
c.2532A>G (p.Lys844=)
c.2508A>G (p.Lys836=)
 COSMIC
13g.108208773T>GCA388612851LIG4c.2295A>C (p.Lys765Asn)
c.2496A>C (p.Lys832Asn)
c.2532A>C (p.Lys844Asn)
c.2508A>C (p.Lys836Asn)
 dbSNP gnomAD v2 gnomAD v4
13g.108208773T=CA2117793901LIG4c.2295A= (p.Lys765=)
c.2496A= (p.Lys832=)
c.2532A= (p.Lys844=)
c.2508A= (p.Lys836=)
13g.108208774T>ACA388612854LIG4c.2294A>T (p.Lys765Ile)
c.2495A>T (p.Lys832Ile)
c.2531A>T (p.Lys844Ile)
c.2507A>T (p.Lys836Ile)
13g.108208774T>CCA388612856LIG4c.2294A>G (p.Lys765Arg)
c.2495A>G (p.Lys832Arg)
c.2531A>G (p.Lys844Arg)
c.2507A>G (p.Lys836Arg)
13g.108208774T>GCA388612860LIG4c.2294A>C (p.Lys765Thr)
c.2495A>C (p.Lys832Thr)
c.2531A>C (p.Lys844Thr)
c.2507A>C (p.Lys836Thr)
13g.108208775T>ACA388612863LIG4c.2293A>T (p.Lys765Ter)
c.2494A>T (p.Lys832Ter)
c.2530A>T (p.Lys844Ter)
c.2506A>T (p.Lys836Ter)
13g.108208775T>CCA388612866LIG4c.2293A>G (p.Lys765Glu)
c.2494A>G (p.Lys832Glu)
c.2530A>G (p.Lys844Glu)
c.2506A>G (p.Lys836Glu)
 dbSNP gnomAD v3 gnomAD v4
13g.108208775T>GCA388612865LIG4c.2293A>C (p.Lys765Gln)
c.2494A>C (p.Lys832Gln)
c.2530A>C (p.Lys844Gln)
c.2506A>C (p.Lys836Gln)
13g.108208775T=CA2117793902LIG4c.2293A= (p.Lys765=)
c.2494A= (p.Lys832=)
c.2530A= (p.Lys844=)
c.2506A= (p.Lys836=)
13g.108208776G>ACA484975001LIG4c.2292C>T (p.Thr764=)
c.2493C>T (p.Thr831=)
c.2529C>T (p.Thr843=)
c.2505C>T (p.Thr835=)
13g.108208776G>CCA484975002LIG4c.2292C>G (p.Thr764=)
c.2493C>G (p.Thr831=)
c.2529C>G (p.Thr843=)
c.2505C>G (p.Thr835=)
13g.108208776G>TCA484975003LIG4c.2292C>A (p.Thr764=)
c.2493C>A (p.Thr831=)
c.2529C>A (p.Thr843=)
c.2505C>A (p.Thr835=)
13g.108208777G>ACA256179093LIG4c.2291C>T (p.Thr764Ile)
c.2492C>T (p.Thr831Ile)
c.2528C>T (p.Thr843Ile)
c.2504C>T (p.Thr835Ile)
 dbSNP gnomAD v4
13g.108208777G>CCA388612867LIG4c.2291C>G (p.Thr764Ser)
c.2492C>G (p.Thr831Ser)
c.2528C>G (p.Thr843Ser)
c.2504C>G (p.Thr835Ser)
13g.108208777G=CA2117793903LIG4c.2291C= (p.Thr764=)
c.2492C= (p.Thr831=)
c.2528C= (p.Thr843=)
c.2504C= (p.Thr835=)
13g.108208777G>TCA388612868LIG4c.2291C>A (p.Thr764Asn)
c.2492C>A (p.Thr831Asn)
c.2528C>A (p.Thr843Asn)
c.2504C>A (p.Thr835Asn)
 ClinVar dbSNP
13g.108208778T>ACA388612870LIG4c.2290A>T (p.Thr764Ser)
c.2491A>T (p.Thr831Ser)
c.2527A>T (p.Thr843Ser)
c.2503A>T (p.Thr835Ser)
13g.108208778T>CCA388612872LIG4c.2290A>G (p.Thr764Ala)
c.2491A>G (p.Thr831Ala)
c.2527A>G (p.Thr843Ala)
c.2503A>G (p.Thr835Ala)
13g.108208778T>GCA388612875LIG4c.2290A>C (p.Thr764Pro)
c.2491A>C (p.Thr831Pro)
c.2527A>C (p.Thr843Pro)
c.2503A>C (p.Thr835Pro)
13g.108208779A>CCA388612877LIG4c.2289T>G (p.Ser763Arg)
c.2490T>G (p.Ser830Arg)
c.2526T>G (p.Ser842Arg)
c.2502T>G (p.Ser834Arg)
13g.108208779A>GCA484975006LIG4c.2289T>C (p.Ser763=)
c.2490T>C (p.Ser830=)
c.2526T>C (p.Ser842=)
c.2502T>C (p.Ser834=)
13g.108208779A>TCA388612878LIG4c.2289T>A (p.Ser763Arg)
c.2490T>A (p.Ser830Arg)
c.2526T>A (p.Ser842Arg)
c.2502T>A (p.Ser834Arg)
13g.108208780C>ACA388612880LIG4c.2288G>T (p.Ser763Ile)
c.2489G>T (p.Ser830Ile)
c.2525G>T (p.Ser842Ile)
c.2501G>T (p.Ser834Ile)
 dbSNP gnomAD v4
13g.108208780C=CA2117793904LIG4c.2288G= (p.Ser763=)
c.2489G= (p.Ser830=)
c.2525G= (p.Ser842=)
c.2501G= (p.Ser834=)
13g.108208780C>GCA388612883LIG4c.2288G>C (p.Ser763Thr)
c.2489G>C (p.Ser830Thr)
c.2525G>C (p.Ser842Thr)
c.2501G>C (p.Ser834Thr)
13g.108208780C>TCA388612885LIG4c.2288G>A (p.Ser763Asn)
c.2489G>A (p.Ser830Asn)
c.2525G>A (p.Ser842Asn)
c.2501G>A (p.Ser834Asn)
13g.108208781T>ACA388612889LIG4c.2287A>T (p.Ser763Cys)
c.2488A>T (p.Ser830Cys)
c.2524A>T (p.Ser842Cys)
c.2500A>T (p.Ser834Cys)
13g.108208781T>CCA388612887LIG4c.2287A>G (p.Ser763Gly)
c.2488A>G (p.Ser830Gly)
c.2524A>G (p.Ser842Gly)
c.2500A>G (p.Ser834Gly)
13g.108208781T>GCA388612886LIG4c.2287A>C (p.Ser763Arg)
c.2488A>C (p.Ser830Arg)
c.2524A>C (p.Ser842Arg)
c.2500A>C (p.Ser834Arg)
13g.108208782C>ACA484975007LIG4c.2286G>T (p.Leu762=)
c.2487G>T (p.Leu829=)
c.2523G>T (p.Leu841=)
c.2499G>T (p.Leu833=)
13g.108208782C>GCA484975009LIG4c.2286G>C (p.Leu762=)
c.2487G>C (p.Leu829=)
c.2523G>C (p.Leu841=)
c.2499G>C (p.Leu833=)
13g.108208782C>TCA484975008LIG4c.2286G>A (p.Leu762=)
c.2487G>A (p.Leu829=)
c.2523G>A (p.Leu841=)
c.2499G>A (p.Leu833=)
 gnomAD v4
13g.108208783A=CA2117793905LIG4c.2285T= (p.Leu762=)
c.2486T= (p.Leu829=)
c.2522T= (p.Leu841=)
c.2498T= (p.Leu833=)
13g.108208783A>CCA7043481LIG4c.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
13g.108208783A>GCA7043482LIG4c.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
13g.108208783A>TCA388612896LIG4c.2285T>A (p.Leu762Gln)
c.2486T>A (p.Leu829Gln)
c.2522T>A (p.Leu841Gln)
c.2498T>A (p.Leu833Gln)
 dbSNP gnomAD v3 gnomAD v4
13g.108208784G>ACA7043483LIG4c.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
13g.108208784G>CCA388612901LIG4c.2284C>G (p.Leu762Val)
c.2485C>G (p.Leu829Val)
c.2521C>G (p.Leu841Val)
c.2497C>G (p.Leu833Val)
13g.108208784G=CA2117793906LIG4c.2284C= (p.Leu762=)
c.2485C= (p.Leu829=)
c.2521C= (p.Leu841=)
c.2497C= (p.Leu833=)
13g.108208784G>TCA388612902LIG4c.2284C>A (p.Leu762Met)
c.2485C>A (p.Leu829Met)
c.2521C>A (p.Leu841Met)
c.2497C>A (p.Leu833Met)
13g.108208785G>ACA484975010LIG4c.2283C>T (p.Asp761=)
c.2484C>T (p.Asp828=)
c.2520C>T (p.Asp840=)
c.2496C>T (p.Asp832=)
 dbSNP gnomAD v4
13g.108208785G>CCA388612907LIG4c.2283C>G (p.Asp761Glu)
c.2484C>G (p.Asp828Glu)
c.2520C>G (p.Asp840Glu)
c.2496C>G (p.Asp832Glu)
13g.108208785G=CA2117793907LIG4c.2283C= (p.Asp761=)
c.2484C= (p.Asp828=)
c.2520C= (p.Asp840=)
c.2496C= (p.Asp832=)
13g.108208785G>TCA388612904LIG4c.2283C>A (p.Asp761Glu)
c.2484C>A (p.Asp828Glu)
c.2520C>A (p.Asp840Glu)
c.2496C>A (p.Asp832Glu)
13g.108208786T>ACA388612910LIG4c.2282A>T (p.Asp761Val)
c.2483A>T (p.Asp828Val)
c.2519A>T (p.Asp840Val)
c.2495A>T (p.Asp832Val)
13g.108208786T>CCA388612912LIG4c.2282A>G (p.Asp761Gly)
c.2483A>G (p.Asp828Gly)
c.2519A>G (p.Asp840Gly)
c.2495A>G (p.Asp832Gly)
 dbSNP
13g.108208786T>GCA388612913LIG4c.2282A>C (p.Asp761Ala)
c.2483A>C (p.Asp828Ala)
c.2519A>C (p.Asp840Ala)
c.2495A>C (p.Asp832Ala)
13g.108208786T=CA2117793908LIG4c.2282A= (p.Asp761=)
c.2483A= (p.Asp828=)
c.2519A= (p.Asp840=)
c.2495A= (p.Asp832=)
13g.108208787C>ACA7043484LIG4c.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
13g.108208787C=CA2117793910LIG4c.2281G= (p.Asp761=)
c.2482G= (p.Asp828=)
c.2518G= (p.Asp840=)
c.2494G= (p.Asp832=)
13g.108208787C>GCA388612918LIG4c.2281G>C (p.Asp761His)
c.2482G>C (p.Asp828His)
c.2518G>C (p.Asp840His)
c.2494G>C (p.Asp832His)
13g.108208787C>TCA388612921LIG4c.2281G>A (p.Asp761Asn)
c.2482G>A (p.Asp828Asn)
c.2518G>A (p.Asp840Asn)
c.2494G>A (p.Asp832Asn)
 ClinVar
13g.108208787_108208790delinsCATTCA2117793909LIG4c.2278_2281delinsAATG (p.Asn760=)
c.2479_2482delinsAATG (p.Asn827=)
c.2515_2518delinsAATG (p.Asn839=)
c.2491_2494delinsAATG (p.Asn831=)
13g.108208788A>CCA388612929LIG4c.2280T>G (p.Asn760Lys)
c.2481T>G (p.Asn827Lys)
c.2517T>G (p.Asn839Lys)
c.2493T>G (p.Asn831Lys)
13g.108208788A>GCA484975012LIG4c.2280T>C (p.Asn760=)
c.2481T>C (p.Asn827=)
c.2517T>C (p.Asn839=)
c.2493T>C (p.Asn831=)
13g.108208788A>TCA388612927LIG4c.2280T>A (p.Asn760Lys)
c.2481T>A (p.Asn827Lys)
c.2517T>A (p.Asn839Lys)
c.2493T>A (p.Asn831Lys)
13g.108208789_108208791delCA7043485LIG4c.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
13g.108208789T>ACA388612932LIG4c.2279A>T (p.Asn760Ile)
c.2480A>T (p.Asn827Ile)
c.2516A>T (p.Asn839Ile)
c.2492A>T (p.Asn831Ile)
13g.108208789T>CCA388612934LIG4c.2279A>G (p.Asn760Ser)
c.2480A>G (p.Asn827Ser)
c.2516A>G (p.Asn839Ser)
c.2492A>G (p.Asn831Ser)
 ClinVar dbSNP
13g.108208789T>GCA388612937LIG4c.2279A>C (p.Asn760Thr)
c.2480A>C (p.Asn827Thr)
c.2516A>C (p.Asn839Thr)
c.2492A>C (p.Asn831Thr)
13g.108208789T=CA2117793911LIG4c.2279A= (p.Asn760=)
c.2480A= (p.Asn827=)
c.2516A= (p.Asn839=)
c.2492A= (p.Asn831=)
13g.108208790T>ACA388612938LIG4c.2278A>T (p.Asn760Tyr)
c.2479A>T (p.Asn827Tyr)
c.2515A>T (p.Asn839Tyr)
c.2491A>T (p.Asn831Tyr)
13g.108208790T>CCA388612940LIG4c.2278A>G (p.Asn760Asp)
c.2479A>G (p.Asn827Asp)
c.2515A>G (p.Asn839Asp)
c.2491A>G (p.Asn831Asp)
 dbSNP
13g.108208790T>GCA388612941LIG4c.2278A>C (p.Asn760His)
c.2479A>C (p.Asn827His)
c.2515A>C (p.Asn839His)
c.2491A>C (p.Asn831His)
13g.108208790T=CA2117793912LIG4c.2278A= (p.Asn760=)
c.2479A= (p.Asn827=)
c.2515A= (p.Asn839=)
c.2491A= (p.Asn831=)
13g.108208793_108208795delCA2575452310LIG4c.2276_2278del (p.Ile759del)
c.2477_2479del (p.Ile826del)
c.2513_2515del (p.Ile838del)
c.2489_2491del (p.Ile830del)
 gnomAD v4
13g.108208791A=CA2117793913LIG4c.2277T= (p.Ile759=)
c.2478T= (p.Ile826=)
c.2514T= (p.Ile838=)
c.2490T= (p.Ile830=)
13g.108208791A>CCA388612942LIG4c.2277T>G (p.Ile759Met)
c.2478T>G (p.Ile826Met)
c.2514T>G (p.Ile838Met)
c.2490T>G (p.Ile830Met)
 dbSNP gnomAD v2 gnomAD v4
13g.108208791A>GCA484975015LIG4c.2277T>C (p.Ile759=)
c.2478T>C (p.Ile826=)
c.2514T>C (p.Ile838=)
c.2490T>C (p.Ile830=)
 gnomAD v4
13g.108208791A>TCA484975016LIG4c.2277T>A (p.Ile759=)
c.2478T>A (p.Ile826=)
c.2514T>A (p.Ile838=)
c.2490T>A (p.Ile830=)
 gnomAD v4
13g.108208792A>CCA388612943LIG4c.2276T>G (p.Ile759Ser)
c.2477T>G (p.Ile826Ser)
c.2513T>G (p.Ile838Ser)
c.2489T>G (p.Ile830Ser)
 gnomAD v4
13g.108208792A>GCA388612945LIG4c.2276T>C (p.Ile759Thr)
c.2477T>C (p.Ile826Thr)
c.2513T>C (p.Ile838Thr)
c.2489T>C (p.Ile830Thr)
 gnomAD v4
13g.108208792A>TCA388612947LIG4c.2276T>A (p.Ile759Asn)
c.2477T>A (p.Ile826Asn)
c.2513T>A (p.Ile838Asn)
c.2489T>A (p.Ile830Asn)
13g.108208793T>ACA388612949LIG4c.2275A>T (p.Ile759Phe)
c.2476A>T (p.Ile826Phe)
c.2512A>T (p.Ile838Phe)
c.2488A>T (p.Ile830Phe)
13g.108208793T>CCA388612951LIG4c.2275A>G (p.Ile759Val)
c.2476A>G (p.Ile826Val)
c.2512A>G (p.Ile838Val)
c.2488A>G (p.Ile830Val)
13g.108208793T>GCA388612953LIG4c.2275A>C (p.Ile759Leu)
c.2476A>C (p.Ile826Leu)
c.2512A>C (p.Ile838Leu)
c.2488A>C (p.Ile830Leu)
13g.108208794A>CCA484975018LIG4c.2274T>G (p.Val758=)
c.2475T>G (p.Val825=)
c.2511T>G (p.Val837=)
c.2487T>G (p.Val829=)
13g.108208794A>GCA484975019LIG4c.2274T>C (p.Val758=)
c.2475T>C (p.Val825=)
c.2511T>C (p.Val837=)
c.2487T>C (p.Val829=)
13g.108208794A>TCA484975020LIG4c.2274T>A (p.Val758=)
c.2475T>A (p.Val825=)
c.2511T>A (p.Val837=)
c.2487T>A (p.Val829=)
 gnomAD v4
13g.108208795A>CCA388612961LIG4c.2273T>G (p.Val758Gly)
c.2474T>G (p.Val825Gly)
c.2510T>G (p.Val837Gly)
c.2486T>G (p.Val829Gly)
13g.108208795A>GCA388612957LIG4c.2273T>C (p.Val758Ala)
c.2474T>C (p.Val825Ala)
c.2510T>C (p.Val837Ala)
c.2486T>C (p.Val829Ala)
13g.108208795A>TCA388612958LIG4c.2273T>A (p.Val758Asp)
c.2474T>A (p.Val825Asp)
c.2510T>A (p.Val837Asp)
c.2486T>A (p.Val829Asp)
 gnomAD v4
13g.108208796C>ACA388612965LIG4c.2272G>T (p.Val758Phe)
c.2473G>T (p.Val825Phe)
c.2509G>T (p.Val837Phe)
c.2485G>T (p.Val829Phe)
13g.108208796C=CA2117793914LIG4c.2272G= (p.Val758=)
c.2473G= (p.Val825=)
c.2509G= (p.Val837=)
c.2485G= (p.Val829=)
13g.108208796C>GCA388612968LIG4c.2272G>C (p.Val758Leu)
c.2473G>C (p.Val825Leu)
c.2509G>C (p.Val837Leu)
c.2485G>C (p.Val829Leu)
13g.108208796C>TCA388612971LIG4c.2272G>A (p.Val758Ile)
c.2473G>A (p.Val825Ile)
c.2509G>A (p.Val837Ile)
c.2485G>A (p.Val829Ile)
 gnomAD v4
13g.108208797A>CCA484975023LIG4c.2271T>G (p.Ala757=)
c.2472T>G (p.Ala824=)
c.2508T>G (p.Ala836=)
c.2484T>G (p.Ala828=)
13g.108208797A>GCA484975025LIG4c.2271T>C (p.Ala757=)
c.2472T>C (p.Ala824=)
c.2508T>C (p.Ala836=)
c.2484T>C (p.Ala828=)
13g.108208797A>TCA484975027LIG4c.2271T>A (p.Ala757=)
c.2472T>A (p.Ala824=)
c.2508T>A (p.Ala836=)
c.2484T>A (p.Ala828=)
13g.108208798_108208802dupCA960044907LIG4c.2267_2271dup (p.Val758MetfsTer7)
c.2468_2472dup (p.Val825MetfsTer7)
c.2504_2508dup (p.Val837MetfsTer7)
c.2480_2484dup (p.Val829MetfsTer7)
 dbSNP gnomAD v3 gnomAD v4
13g.108208798G>ACA388612972LIG4c.2270C>T (p.Ala757Val)
c.2471C>T (p.Ala824Val)
c.2507C>T (p.Ala836Val)
c.2483C>T (p.Ala828Val)
 dbSNP gnomAD v2 gnomAD v4
13g.108208798G>CCA388612975LIG4c.2270C>G (p.Ala757Gly)
c.2471C>G (p.Ala824Gly)
c.2507C>G (p.Ala836Gly)
c.2483C>G (p.Ala828Gly)
13g.108208798G=CA2117793915LIG4c.2270C= (p.Ala757=)
c.2471C= (p.Ala824=)
c.2507C= (p.Ala836=)
c.2483C= (p.Ala828=)
13g.108208798G>TCA388612977LIG4c.2270C>A (p.Ala757Asp)
c.2471C>A (p.Ala824Asp)
c.2507C>A (p.Ala836Asp)
c.2483C>A (p.Ala828Asp)
13g.108208799C>ACA256179151LIG4c.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
13g.108208799C=CA2117793916LIG4c.2269G= (p.Ala757=)
c.2470G= (p.Ala824=)
c.2506G= (p.Ala836=)
c.2482G= (p.Ala828=)
13g.108208799C>GCA388612979LIG4c.2269G>C (p.Ala757Pro)
c.2470G>C (p.Ala824Pro)
c.2506G>C (p.Ala836Pro)
c.2482G>C (p.Ala828Pro)
13g.108208799C>TCA388612981LIG4c.2269G>A (p.Ala757Thr)
c.2470G>A (p.Ala824Thr)
c.2506G>A (p.Ala836Thr)
c.2482G>A (p.Ala828Thr)
 gnomAD v4
13g.108208800A>CCA388612986LIG4c.2268T>G (p.Tyr756Ter)
c.2469T>G (p.Tyr823Ter)
c.2505T>G (p.Tyr835Ter)
c.2481T>G (p.Tyr827Ter)
13g.108208800A>GCA484975032LIG4c.2268T>C (p.Tyr756=)
c.2469T>C (p.Tyr823=)
c.2505T>C (p.Tyr835=)
c.2481T>C (p.Tyr827=)
 gnomAD v4
13g.108208800A>TCA388612987LIG4c.2268T>A (p.Tyr756Ter)
c.2469T>A (p.Tyr823Ter)
c.2505T>A (p.Tyr835Ter)
c.2481T>A (p.Tyr827Ter)
13g.108208801T>ACA388612989LIG4c.2267A>T (p.Tyr756Phe)
c.2468A>T (p.Tyr823Phe)
c.2504A>T (p.Tyr835Phe)
c.2480A>T (p.Tyr827Phe)
13g.108208801T>CCA7043486LIG4c.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
13g.108208801T>GCA388612992LIG4c.2267A>C (p.Tyr756Ser)
c.2468A>C (p.Tyr823Ser)
c.2504A>C (p.Tyr835Ser)
c.2480A>C (p.Tyr827Ser)
13g.108208801T=CA2117793917LIG4c.2267A= (p.Tyr756=)
c.2468A= (p.Tyr823=)
c.2504A= (p.Tyr835=)
c.2480A= (p.Tyr827=)
13g.108208802A=CA2117793918LIG4c.2266T= (p.Tyr756=)
c.2467T= (p.Tyr823=)
c.2503T= (p.Tyr835=)
c.2479T= (p.Tyr827=)
13g.108208802A>CCA7043488LIG4c.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
13g.108208802A>GCA7043487LIG4c.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
13g.108208802A>TCA388612997LIG4c.2266T>A (p.Tyr756Asn)
c.2467T>A (p.Tyr823Asn)
c.2503T>A (p.Tyr835Asn)
c.2479T>A (p.Tyr827Asn)
13g.108208803C>ACA484975036LIG4c.2265G>T (p.Ser755=)
c.2466G>T (p.Ser822=)
c.2502G>T (p.Ser834=)
c.2478G>T (p.Ser826=)
 ClinVar gnomAD v4
13g.108208803C=CA2117793919LIG4c.2265G= (p.Ser755=)
c.2466G= (p.Ser822=)
c.2502G= (p.Ser834=)
c.2478G= (p.Ser826=)
13g.108208803C>GCA484975038LIG4c.2265G>C (p.Ser755=)
c.2466G>C (p.Ser822=)
c.2502G>C (p.Ser834=)
c.2478G>C (p.Ser826=)
 gnomAD v4
13g.108208803C>TCA7043489LIG4c.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
13g.108208804G>ACA7043490LIG4c.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
13g.108208804G>CCA388613002LIG4c.2264C>G (p.Ser755Trp)
c.2465C>G (p.Ser822Trp)
c.2501C>G (p.Ser834Trp)
c.2477C>G (p.Ser826Trp)
 ClinVar gnomAD v4
13g.108208804G=CA2117793920LIG4c.2264C= (p.Ser755=)
c.2465C= (p.Ser822=)
c.2501C= (p.Ser834=)
c.2477C= (p.Ser826=)
13g.108208804G>TCA388613005LIG4c.2264C>A (p.Ser755Ter)
c.2465C>A (p.Ser822Ter)
c.2501C>A (p.Ser834Ter)
c.2477C>A (p.Ser826Ter)
13g.108208805A>CCA388613008LIG4c.2263T>G (p.Ser755Ala)
c.2464T>G (p.Ser822Ala)
c.2500T>G (p.Ser834Ala)
c.2476T>G (p.Ser826Ala)
13g.108208805A>GCA388613011LIG4c.2263T>C (p.Ser755Pro)
c.2464T>C (p.Ser822Pro)
c.2500T>C (p.Ser834Pro)
c.2476T>C (p.Ser826Pro)
13g.108208805A>TCA388613013LIG4c.2263T>A (p.Ser755Thr)
c.2464T>A (p.Ser822Thr)
c.2500T>A (p.Ser834Thr)
c.2476T>A (p.Ser826Thr)
13g.108208806G>ACA484975041LIG4c.2262C>T (p.Asp754=)
c.2463C>T (p.Asp821=)
c.2499C>T (p.Asp833=)
c.2475C>T (p.Asp825=)
 gnomAD v4
13g.108208806G>CCA388613014LIG4c.2262C>G (p.Asp754Glu)
c.2463C>G (p.Asp821Glu)
c.2499C>G (p.Asp833Glu)
c.2475C>G (p.Asp825Glu)
13g.108208806G>TCA388613015LIG4c.2262C>A (p.Asp754Glu)
c.2463C>A (p.Asp821Glu)
c.2499C>A (p.Asp833Glu)
c.2475C>A (p.Asp825Glu)
13g.108208807T>ACA388613019LIG4c.2261A>T (p.Asp754Val)
c.2462A>T (p.Asp821Val)
c.2498A>T (p.Asp833Val)
c.2474A>T (p.Asp825Val)
 COSMIC
13g.108208807T>CCA388613023LIG4c.2261A>G (p.Asp754Gly)
c.2462A>G (p.Asp821Gly)
c.2498A>G (p.Asp833Gly)
c.2474A>G (p.Asp825Gly)
 ClinVar dbSNP gnomAD v4
13g.108208807T>GCA388613025LIG4c.2261A>C (p.Asp754Ala)
c.2462A>C (p.Asp821Ala)
c.2498A>C (p.Asp833Ala)
c.2474A>C (p.Asp825Ala)
13g.108208807T=CA2117793921LIG4c.2261A= (p.Asp754=)
c.2462A= (p.Asp821=)
c.2498A= (p.Asp833=)
c.2474A= (p.Asp825=)
13g.108208808C>ACA388613030LIG4c.2260G>T (p.Asp754Tyr)
c.2461G>T (p.Asp821Tyr)
c.2497G>T (p.Asp833Tyr)
c.2473G>T (p.Asp825Tyr)
13g.108208808C>GCA388613036LIG4c.2260G>C (p.Asp754His)
c.2461G>C (p.Asp821His)
c.2497G>C (p.Asp833His)
c.2473G>C (p.Asp825His)
 gnomAD v4
13g.108208808C>TCA388613033LIG4c.2260G>A (p.Asp754Asn)
c.2461G>A (p.Asp821Asn)
c.2497G>A (p.Asp833Asn)
c.2473G>A (p.Asp825Asn)
13g.108208809C>ACA388613042LIG4c.2259G>T (p.Leu753Phe)
c.2460G>T (p.Leu820Phe)
c.2496G>T (p.Leu832Phe)
c.2472G>T (p.Leu824Phe)
13g.108208809C=CA2117793922LIG4c.2259G= (p.Leu753=)
c.2460G= (p.Leu820=)
c.2496G= (p.Leu832=)
c.2472G= (p.Leu824=)
13g.108208809C>GCA7043491LIG4c.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
13g.108208809C>TCA484975043LIG4c.2259G>A (p.Leu753=)
c.2460G>A (p.Leu820=)
c.2496G>A (p.Leu832=)
c.2472G>A (p.Leu824=)
13g.108208810A>CCA388613045LIG4c.2258T>G (p.Leu753Trp)
c.2459T>G (p.Leu820Trp)
c.2495T>G (p.Leu832Trp)
c.2471T>G (p.Leu824Trp)
13g.108208810A>GCA388613048LIG4c.2258T>C (p.Leu753Ser)
c.2459T>C (p.Leu820Ser)
c.2495T>C (p.Leu832Ser)
c.2471T>C (p.Leu824Ser)
13g.108208810A>TCA388613051LIG4c.2258T>A (p.Leu753Ter)
c.2459T>A (p.Leu820Ter)
c.2495T>A (p.Leu832Ter)
c.2471T>A (p.Leu824Ter)
13g.108208811A=CA2117793923LIG4c.2257T= (p.Leu753=)
c.2458T= (p.Leu820=)
c.2494T= (p.Leu832=)
c.2470T= (p.Leu824=)
13g.108208811A>CCA388613054LIG4c.2257T>G (p.Leu753Val)
c.2458T>G (p.Leu820Val)
c.2494T>G (p.Leu832Val)
c.2470T>G (p.Leu824Val)
13g.108208811A>GCA484975049LIG4c.2257T>C (p.Leu753=)
c.2458T>C (p.Leu820=)
c.2494T>C (p.Leu832=)
c.2470T>C (p.Leu824=)
 dbSNP gnomAD v2 gnomAD v4
13g.108208811A>TCA388613056LIG4c.2257T>A (p.Leu753Met)
c.2458T>A (p.Leu820Met)
c.2494T>A (p.Leu832Met)
c.2470T>A (p.Leu824Met)
13g.108208812A>CCA388613063LIG4c.2256T>G (p.Tyr752Ter)
c.2457T>G (p.Tyr819Ter)
c.2493T>G (p.Tyr831Ter)
c.2469T>G (p.Tyr823Ter)
13g.108208812A>GCA484975051LIG4c.2256T>C (p.Tyr752=)
c.2457T>C (p.Tyr819=)
c.2493T>C (p.Tyr831=)
c.2469T>C (p.Tyr823=)
13g.108208812A>TCA388613065LIG4c.2256T>A (p.Tyr752Ter)
c.2457T>A (p.Tyr819Ter)
c.2493T>A (p.Tyr831Ter)
c.2469T>A (p.Tyr823Ter)
13g.108208813T>ACA388613067LIG4c.2255A>T (p.Tyr752Phe)
c.2456A>T (p.Tyr819Phe)
c.2492A>T (p.Tyr831Phe)
c.2468A>T (p.Tyr823Phe)
13g.108208813T>CCA388613070LIG4c.2255A>G (p.Tyr752Cys)
c.2456A>G (p.Tyr819Cys)
c.2492A>G (p.Tyr831Cys)
c.2468A>G (p.Tyr823Cys)
 dbSNP gnomAD v2 gnomAD v4
13g.108208813T>GCA388613073LIG4c.2255A>C (p.Tyr752Ser)
c.2456A>C (p.Tyr819Ser)
c.2492A>C (p.Tyr831Ser)
c.2468A>C (p.Tyr823Ser)
13g.108208813T=CA2117793924LIG4c.2255A= (p.Tyr752=)
c.2456A= (p.Tyr819=)
c.2492A= (p.Tyr831=)
c.2468A= (p.Tyr823=)
13g.108208814A>CCA388613075LIG4c.2254T>G (p.Tyr752Asp)
c.2455T>G (p.Tyr819Asp)
c.2491T>G (p.Tyr831Asp)
c.2467T>G (p.Tyr823Asp)
13g.108208814A>GCA388613078LIG4c.2254T>C (p.Tyr752His)
c.2455T>C (p.Tyr819His)
c.2491T>C (p.Tyr831His)
c.2467T>C (p.Tyr823His)
13g.108208814A>TCA388613079LIG4c.2254T>A (p.Tyr752Asn)
c.2455T>A (p.Tyr819Asn)
c.2491T>A (p.Tyr831Asn)
c.2467T>A (p.Tyr823Asn)
13g.108208815_108208816dupCA2575452311LIG4c.2253_2254dup (p.Tyr752PhefsTer12)
c.2454_2455dup (p.Tyr819PhefsTer12)
c.2490_2491dup (p.Tyr831PhefsTer12)
c.2466_2467dup (p.Tyr823PhefsTer12)
13g.108208815A>CCA484975057LIG4c.2253T>G (p.Val751=)
c.2454T>G (p.Val818=)
c.2490T>G (p.Val830=)
c.2466T>G (p.Val822=)
13g.108208815A>GCA484975060LIG4c.2253T>C (p.Val751=)
c.2454T>C (p.Val818=)
c.2490T>C (p.Val830=)
c.2466T>C (p.Val822=)
13g.108208815A>TCA484975061LIG4c.2253T>A (p.Val751=)
c.2454T>A (p.Val818=)
c.2490T>A (p.Val830=)
c.2466T>A (p.Val822=)
13g.108208816A>CCA388613080LIG4c.2252T>G (p.Val751Gly)
c.2453T>G (p.Val818Gly)
c.2489T>G (p.Val830Gly)
c.2465T>G (p.Val822Gly)
13g.108208816A>GCA388613082LIG4c.2252T>C (p.Val751Ala)
c.2453T>C (p.Val818Ala)
c.2489T>C (p.Val830Ala)
c.2465T>C (p.Val822Ala)
13g.108208816A>TCA388613081LIG4c.2252T>A (p.Val751Asp)
c.2453T>A (p.Val818Asp)
c.2489T>A (p.Val830Asp)
c.2465T>A (p.Val822Asp)
13g.108208817C>ACA388613084LIG4c.2251G>T (p.Val751Phe)
c.2452G>T (p.Val818Phe)
c.2488G>T (p.Val830Phe)
c.2464G>T (p.Val822Phe)
13g.108208817C=CA2117793925LIG4c.2251G= (p.Val751=)
c.2452G= (p.Val818=)
c.2488G= (p.Val830=)
c.2464G= (p.Val822=)
13g.108208817C>GCA388613087LIG4c.2251G>C (p.Val751Leu)
c.2452G>C (p.Val818Leu)
c.2488G>C (p.Val830Leu)
c.2464G>C (p.Val822Leu)
13g.108208817C>TCA7043492LIG4c.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
13g.108208818G>ACA7043493LIG4c.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
13g.108208818G>CCA484975063LIG4c.2250C>G (p.Thr750=)
c.2451C>G (p.Thr817=)
c.2487C>G (p.Thr829=)
c.2463C>G (p.Thr821=)
13g.108208818G=CA2117793926LIG4c.2250C= (p.Thr750=)
c.2451C= (p.Thr817=)
c.2487C= (p.Thr829=)
c.2463C= (p.Thr821=)
13g.108208818G>TCA484975064LIG4c.2250C>A (p.Thr750=)
c.2451C>A (p.Thr817=)
c.2487C>A (p.Thr829=)
c.2463C>A (p.Thr821=)
 gnomAD v4
13g.108208819G>ACA388613093LIG4c.2249C>T (p.Thr750Ile)
c.2450C>T (p.Thr817Ile)
c.2486C>T (p.Thr829Ile)
c.2462C>T (p.Thr821Ile)
 COSMIC
13g.108208819G>CCA388613096LIG4c.2249C>G (p.Thr750Ser)
c.2450C>G (p.Thr817Ser)
c.2486C>G (p.Thr829Ser)
c.2462C>G (p.Thr821Ser)
13g.108208819G>TCA388613100LIG4c.2249C>A (p.Thr750Asn)
c.2450C>A (p.Thr817Asn)
c.2486C>A (p.Thr829Asn)
c.2462C>A (p.Thr821Asn)
 gnomAD v4
13g.108208819_108208820delinsGTCA2117793927LIG4c.2248_2249delinsAC (p.Thr750=)
c.2449_2450delinsAC (p.Thr817=)
c.2485_2486delinsAC (p.Thr829=)
c.2461_2462delinsAC (p.Thr821=)
13g.108208822_108208823delCA2539358168LIG4c.2248_2249del (p.Thr750ArgfsTer10)
c.2449_2450del (p.Thr817ArgfsTer10)
c.2485_2486del (p.Thr829ArgfsTer10)
c.2461_2462del (p.Thr821ArgfsTer10)
13g.108208820delCA694833143LIG4c.2248del (p.Thr750ProfsTer13)
c.2449del (p.Thr817ProfsTer13)
c.2485del (p.Thr829ProfsTer13)
c.2461del (p.Thr821ProfsTer13)
 dbSNP gnomAD v3 gnomAD v4
13g.108208820T>ACA388613103LIG4c.2248A>T (p.Thr750Ser)
c.2449A>T (p.Thr817Ser)
c.2485A>T (p.Thr829Ser)
c.2461A>T (p.Thr821Ser)
13g.108208820T>CCA7043494LIG4c.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
13g.108208820T>GCA7043495LIG4c.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
13g.108208820T=CA2117793928LIG4c.2248A= (p.Thr750=)
c.2449A= (p.Thr817=)
c.2485A= (p.Thr829=)
c.2461A= (p.Thr821=)
13g.108208821G>ACA7043496LIG4c.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
13g.108208821G>CCA388613112LIG4c.2247C>G (p.His749Gln)
c.2448C>G (p.His816Gln)
c.2484C>G (p.His828Gln)
c.2460C>G (p.His820Gln)
 COSMIC
13g.108208821G=CA2117793929LIG4c.2247C= (p.His749=)
c.2448C= (p.His816=)
c.2484C= (p.His828=)
c.2460C= (p.His820=)
13g.108208821G>TCA388613107LIG4c.2247C>A (p.His749Gln)
c.2448C>A (p.His816Gln)
c.2484C>A (p.His828Gln)
c.2460C>A (p.His820Gln)
13g.108208822T>ACA388613115LIG4c.2246A>T (p.His749Leu)
c.2447A>T (p.His816Leu)
c.2483A>T (p.His828Leu)
c.2459A>T (p.His820Leu)
13g.108208822T>CCA388613118LIG4c.2246A>G (p.His749Arg)
c.2447A>G (p.His816Arg)
c.2483A>G (p.His828Arg)
c.2459A>G (p.His820Arg)
 COSMIC
13g.108208822T>GCA388613120LIG4c.2246A>C (p.His749Pro)
c.2447A>C (p.His816Pro)
c.2483A>C (p.His828Pro)
c.2459A>C (p.His820Pro)
13g.108208823G>ACA388613122LIG4c.2245C>T (p.His749Tyr)
c.2446C>T (p.His816Tyr)
c.2482C>T (p.His828Tyr)
c.2458C>T (p.His820Tyr)
13g.108208823G>CCA388613123LIG4c.2245C>G (p.His749Asp)
c.2446C>G (p.His816Asp)
c.2482C>G (p.His828Asp)
c.2458C>G (p.His820Asp)
13g.108208823G>TCA388613124LIG4c.2245C>A (p.His749Asn)
c.2446C>A (p.His816Asn)
c.2482C>A (p.His828Asn)
c.2458C>A (p.His820Asn)
13g.108208824G>ACA484975073LIG4c.2244C>T (p.Arg748=)
c.2445C>T (p.Arg815=)
c.2481C>T (p.Arg827=)
c.2457C>T (p.Arg819=)
13g.108208824G>CCA484975071LIG4c.2244C>G (p.Arg748=)
c.2445C>G (p.Arg815=)
c.2481C>G (p.Arg827=)
c.2457C>G (p.Arg819=)
13g.108208824G=CA2117793930LIG4c.2244C= (p.Arg748=)
c.2445C= (p.Arg815=)
c.2481C= (p.Arg827=)
c.2457C= (p.Arg819=)
13g.108208824G>TCA256179228LIG4c.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
13g.108208825C>ACA7043498LIG4c.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
13g.108208825C=CA2117793931LIG4c.2243G= (p.Arg748=)
c.2444G= (p.Arg815=)
c.2480G= (p.Arg827=)
c.2456G= (p.Arg819=)
13g.108208825C>GCA388613127LIG4c.2243G>C (p.Arg748Pro)
c.2444G>C (p.Arg815Pro)
c.2480G>C (p.Arg827Pro)
c.2456G>C (p.Arg819Pro)
13g.108208825C>TCA7043497LIG4c.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
13g.108208826G>ACA7043499LIG4c.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
13g.108208826G>CCA388613130LIG4c.2242C>G (p.Arg748Gly)
c.2443C>G (p.Arg815Gly)
c.2479C>G (p.Arg827Gly)
c.2455C>G (p.Arg819Gly)
13g.108208826G=CA2117793932LIG4c.2242C= (p.Arg748=)
c.2443C= (p.Arg815=)
c.2479C= (p.Arg827=)
c.2455C= (p.Arg819=)
13g.108208826G>TCA388613132LIG4c.2242C>A (p.Arg748Ser)
c.2443C>A (p.Arg815Ser)
c.2479C>A (p.Arg827Ser)
c.2455C>A (p.Arg819Ser)
13g.108208827T>ACA484975075LIG4c.2241A>T (p.Arg747=)
c.2442A>T (p.Arg814=)
c.2478A>T (p.Arg826=)
c.2454A>T (p.Arg818=)
 COSMIC
13g.108208827T>CCA484975076LIG4c.2241A>G (p.Arg747=)
c.2442A>G (p.Arg814=)
c.2478A>G (p.Arg826=)
c.2454A>G (p.Arg818=)
13g.108208827T>GCA484975077LIG4c.2241A>C (p.Arg747=)
c.2442A>C (p.Arg814=)
c.2478A>C (p.Arg826=)
c.2454A>C (p.Arg818=)
13g.108208828C>ACA388613137LIG4c.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
13g.108208828C=CA2117793933LIG4c.2240G= (p.Arg747=)
c.2441G= (p.Arg814=)
c.2477G= (p.Arg826=)
c.2453G= (p.Arg818=)
13g.108208828C>GCA388613136LIG4c.2240G>C (p.Arg747Pro)
c.2441G>C (p.Arg814Pro)
c.2477G>C (p.Arg826Pro)
c.2453G>C (p.Arg818Pro)
13g.108208828C>TCA388613134LIG4c.2240G>A (p.Arg747Gln)
c.2441G>A (p.Arg814Gln)
c.2477G>A (p.Arg826Gln)
c.2453G>A (p.Arg818Gln)
 dbSNP gnomAD v3 gnomAD v4
13g.108208829G>ACA118975LIG4c.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
13g.108208829G>CCA388613139LIG4c.2239C>G (p.Arg747Gly)
c.2440C>G (p.Arg814Gly)
c.2476C>G (p.Arg826Gly)
c.2452C>G (p.Arg818Gly)
 gnomAD v4
13g.108208829G=CA2117793934LIG4c.2239C= (p.Arg747=)
c.2440C= (p.Arg814=)
c.2476C= (p.Arg826=)
c.2452C= (p.Arg818=)
13g.108208829G>TCA484975078LIG4c.2239C>A (p.Arg747=)
c.2440C>A (p.Arg814=)
c.2476C>A (p.Arg826=)
c.2452C>A (p.Arg818=)
 ClinVar gnomAD v4
13g.108208830A>CCA388613141LIG4c.2238T>G (p.Phe746Leu)
c.2439T>G (p.Phe813Leu)
c.2475T>G (p.Phe825Leu)
c.2451T>G (p.Phe817Leu)
13g.108208830A>GCA484975083LIG4c.2238T>C (p.Phe746=)
c.2439T>C (p.Phe813=)
c.2475T>C (p.Phe825=)
c.2451T>C (p.Phe817=)
13g.108208830A>TCA388613143LIG4c.2238T>A (p.Phe746Leu)
c.2439T>A (p.Phe813Leu)
c.2475T>A (p.Phe825Leu)
c.2451T>A (p.Phe817Leu)
13g.108208831A>CCA388613144LIG4c.2237T>G (p.Phe746Cys)
c.2438T>G (p.Phe813Cys)
c.2474T>G (p.Phe825Cys)
c.2450T>G (p.Phe817Cys)
13g.108208831A>GCA388613146LIG4c.2237T>C (p.Phe746Ser)
c.2438T>C (p.Phe813Ser)
c.2474T>C (p.Phe825Ser)
c.2450T>C (p.Phe817Ser)
13g.108208831A>TCA388613148LIG4c.2237T>A (p.Phe746Tyr)
c.2438T>A (p.Phe813Tyr)
c.2474T>A (p.Phe825Tyr)
c.2450T>A (p.Phe817Tyr)
13g.108208832A=CA2117793935LIG4c.2236T= (p.Phe746=)
c.2437T= (p.Phe813=)
c.2473T= (p.Phe825=)
c.2449T= (p.Phe817=)
13g.108208832A>CCA388613150LIG4c.2236T>G (p.Phe746Val)
c.2437T>G (p.Phe813Val)
c.2473T>G (p.Phe825Val)
c.2449T>G (p.Phe817Val)
13g.108208832A>GCA388613151LIG4c.2236T>C (p.Phe746Leu)
c.2437T>C (p.Phe813Leu)
c.2473T>C (p.Phe825Leu)
c.2449T>C (p.Phe817Leu)
 dbSNP
13g.108208832A>TCA388613153LIG4c.2236T>A (p.Phe746Ile)
c.2437T>A (p.Phe813Ile)
c.2473T>A (p.Phe825Ile)
c.2449T>A (p.Phe817Ile)
13g.108208833C>ACA388613154LIG4c.2235G>T (p.Met745Ile)
c.2436G>T (p.Met812Ile)
c.2472G>T (p.Met824Ile)
c.2448G>T (p.Met816Ile)
13g.108208833C=CA2117793936LIG4c.2235G= (p.Met745=)
c.2436G= (p.Met812=)
c.2472G= (p.Met824=)
c.2448G= (p.Met816=)
13g.108208833C>GCA388613156LIG4c.2235G>C (p.Met745Ile)
c.2436G>C (p.Met812Ile)
c.2472G>C (p.Met824Ile)
c.2448G>C (p.Met816Ile)
13g.108208833C>TCA7043500LIG4c.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
13g.108208834A=CA2117793937LIG4c.2234T= (p.Met745=)
c.2435T= (p.Met812=)
c.2471T= (p.Met824=)
c.2447T= (p.Met816=)
13g.108208834A>CCA7043501LIG4c.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
13g.108208834A>GCA388613160LIG4c.2234T>C (p.Met745Thr)
c.2435T>C (p.Met812Thr)
c.2471T>C (p.Met824Thr)
c.2447T>C (p.Met816Thr)
 gnomAD v4
13g.108208834A>TCA388613159LIG4c.2234T>A (p.Met745Lys)
c.2435T>A (p.Met812Lys)
c.2471T>A (p.Met824Lys)
c.2447T>A (p.Met816Lys)
13g.108208835T>ACA388613161LIG4c.2233A>T (p.Met745Leu)
c.2434A>T (p.Met812Leu)
c.2470A>T (p.Met824Leu)
c.2446A>T (p.Met816Leu)
13g.108208835T>CCA7043502LIG4c.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
13g.108208835T>GCA388613163LIG4c.2233A>C (p.Met745Leu)
c.2434A>C (p.Met812Leu)
c.2470A>C (p.Met824Leu)
c.2446A>C (p.Met816Leu)
13g.108208835T=CA2117793938LIG4c.2233A= (p.Met745=)
c.2434A= (p.Met812=)
c.2470A= (p.Met824=)
c.2446A= (p.Met816=)
13g.108208836A>CCA388613165LIG4c.2232T>G (p.Ser744Arg)
c.2433T>G (p.Ser811Arg)
c.2469T>G (p.Ser823Arg)
c.2445T>G (p.Ser815Arg)
13g.108208836A>GCA484975192LIG4c.2232T>C (p.Ser744=)
c.2433T>C (p.Ser811=)
c.2469T>C (p.Ser823=)
c.2445T>C (p.Ser815=)
 gnomAD v4
13g.108208836A>TCA388613166LIG4c.2232T>A (p.Ser744Arg)
c.2433T>A (p.Ser811Arg)
c.2469T>A (p.Ser823Arg)
c.2445T>A (p.Ser815Arg)
13g.108208837C>ACA388613168LIG4c.2231G>T (p.Ser744Ile)
c.2432G>T (p.Ser811Ile)
c.2468G>T (p.Ser823Ile)
c.2444G>T (p.Ser815Ile)
13g.108208837C>GCA388613170LIG4c.2231G>C (p.Ser744Thr)
c.2432G>C (p.Ser811Thr)
c.2468G>C (p.Ser823Thr)
c.2444G>C (p.Ser815Thr)
13g.108208837C>TCA388613172LIG4c.2231G>A (p.Ser744Asn)
c.2432G>A (p.Ser811Asn)
c.2468G>A (p.Ser823Asn)
c.2444G>A (p.Ser815Asn)
13g.108208838T>ACA388613173LIG4c.2230A>T (p.Ser744Cys)
c.2431A>T (p.Ser811Cys)
c.2467A>T (p.Ser823Cys)
c.2443A>T (p.Ser815Cys)
13g.108208838T>CCA388613175LIG4c.2230A>G (p.Ser744Gly)
c.2431A>G (p.Ser811Gly)
c.2467A>G (p.Ser823Gly)
c.2443A>G (p.Ser815Gly)
 dbSNP gnomAD v2 gnomAD v4
13g.108208838T>GCA388613176LIG4c.2230A>C (p.Ser744Arg)
c.2431A>C (p.Ser811Arg)
c.2467A>C (p.Ser823Arg)
c.2443A>C (p.Ser815Arg)
13g.108208838T=CA2117793939LIG4c.2230A= (p.Ser744=)
c.2431A= (p.Ser811=)
c.2467A= (p.Ser823=)
c.2443A= (p.Ser815=)
13g.108208838_108208843delinsTGAGAGCA2117793940LIG4c.2225_2230delinsCTCTCA (p.Pro742=)
c.2426_2431delinsCTCTCA (p.Pro809=)
c.2462_2467delinsCTCTCA (p.Pro821=)
c.2438_2443delinsCTCTCA (p.Pro813=)
13g.108208839G>ACA7043503LIG4c.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
13g.108208839G>CCA484975199LIG4c.2229C>G (p.Leu743=)
c.2430C>G (p.Leu810=)
c.2466C>G (p.Leu822=)
c.2442C>G (p.Leu814=)
 dbSNP
13g.108208839G=CA2117793941LIG4c.2229C= (p.Leu743=)
c.2430C= (p.Leu810=)
c.2466C= (p.Leu822=)
c.2442C= (p.Leu814=)
13g.108208839G>TCA484975197LIG4c.2229C>A (p.Leu743=)
c.2430C>A (p.Leu810=)
c.2466C>A (p.Leu822=)
c.2442C>A (p.Leu814=)
13g.108208844_108208848delCA960044961LIG4c.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
13g.108208840A>CCA388613179LIG4c.2228T>G (p.Leu743Arg)
c.2429T>G (p.Leu810Arg)
c.2465T>G (p.Leu822Arg)
c.2441T>G (p.Leu814Arg)
13g.108208840A>GCA388613180LIG4c.2228T>C (p.Leu743Pro)
c.2429T>C (p.Leu810Pro)
c.2465T>C (p.Leu822Pro)
c.2441T>C (p.Leu814Pro)
13g.108208840A>TCA388613182LIG4c.2228T>A (p.Leu743His)
c.2429T>A (p.Leu810His)
c.2465T>A (p.Leu822His)
c.2441T>A (p.Leu814His)
13g.108208841G>ACA7043504LIG4c.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
13g.108208841G>CCA388613185LIG4c.2227C>G (p.Leu743Val)
c.2428C>G (p.Leu810Val)
c.2464C>G (p.Leu822Val)
c.2440C>G (p.Leu814Val)
 COSMIC
13g.108208841G=CA2117793942LIG4c.2227C= (p.Leu743=)
c.2428C= (p.Leu810=)
c.2464C= (p.Leu822=)
c.2440C= (p.Leu814=)
13g.108208841G>TCA388613186LIG4c.2227C>A (p.Leu743Ile)
c.2428C>A (p.Leu810Ile)
c.2464C>A (p.Leu822Ile)
c.2440C>A (p.Leu814Ile)
13g.108208842A=CA2117793943LIG4c.2226T= (p.Pro742=)
c.2427T= (p.Pro809=)
c.2463T= (p.Pro821=)
c.2439T= (p.Pro813=)
13g.108208842A>CCA484975204LIG4c.2226T>G (p.Pro742=)
c.2427T>G (p.Pro809=)
c.2463T>G (p.Pro821=)
c.2439T>G (p.Pro813=)
13g.108208842A>GCA484975205LIG4c.2226T>C (p.Pro742=)
c.2427T>C (p.Pro809=)
c.2463T>C (p.Pro821=)
c.2439T>C (p.Pro813=)
 dbSNP gnomAD v2
13g.108208842A>TCA484975207LIG4c.2226T>A (p.Pro742=)
c.2427T>A (p.Pro809=)
c.2463T>A (p.Pro821=)
c.2439T>A (p.Pro813=)
 ClinVar
13g.108208842dupCA2739277735LIG4c.2226dup (p.Leu743SerfsTer18)
c.2427dup (p.Leu810SerfsTer18)
c.2463dup (p.Leu822SerfsTer18)
c.2439dup (p.Leu814SerfsTer18)
 ClinVar
13g.108208843G>ACA388613188LIG4c.2225C>T (p.Pro742Leu)
c.2426C>T (p.Pro809Leu)
c.2462C>T (p.Pro821Leu)
c.2438C>T (p.Pro813Leu)
 ClinVar gnomAD v4
13g.108208843G>CCA388613190LIG4c.2225C>G (p.Pro742Arg)
c.2426C>G (p.Pro809Arg)
c.2462C>G (p.Pro821Arg)
c.2438C>G (p.Pro813Arg)
13g.108208843G>TCA388613189LIG4c.2225C>A (p.Pro742His)
c.2426C>A (p.Pro809His)
c.2462C>A (p.Pro821His)
c.2438C>A (p.Pro813His)
13g.108208844G>ACA388613192LIG4c.2224C>T (p.Pro742Ser)
c.2425C>T (p.Pro809Ser)
c.2461C>T (p.Pro821Ser)
c.2437C>T (p.Pro813Ser)
13g.108208844G>CCA7043505LIG4c.2224C>G (p.Pro742Ala)
c.2425C>G (p.Pro809Ala)
c.2461C>G (p.Pro821Ala)
c.2437C>G (p.Pro813Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208844G=CA2117793944LIG4c.2224C= (p.Pro742=)
c.2425C= (p.Pro809=)
c.2461C= (p.Pro821=)
c.2437C= (p.Pro813=)
13g.108208844G>TCA388613193LIG4c.2224C>A (p.Pro742Thr)
c.2425C>A (p.Pro809Thr)
c.2461C>A (p.Pro821Thr)
c.2437C>A (p.Pro813Thr)
13g.108208845A=CA2117793945LIG4c.2223T= (p.Ser741=)
c.2424T= (p.Ser808=)
c.2460T= (p.Ser820=)
c.2436T= (p.Ser812=)
13g.108208845A>CCA484975211LIG4c.2223T>G (p.Ser741=)
c.2424T>G (p.Ser808=)
c.2460T>G (p.Ser820=)
c.2436T>G (p.Ser812=)
13g.108208845A>GCA7043506LIG4c.2223T>C (p.Ser741=)
c.2424T>C (p.Ser808=)
c.2460T>C (p.Ser820=)
c.2436T>C (p.Ser812=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208845A>TCA484975214LIG4c.2223T>A (p.Ser741=)
c.2424T>A (p.Ser808=)
c.2460T>A (p.Ser820=)
c.2436T>A (p.Ser812=)
13g.108208846G>ACA388613196LIG4c.2222C>T (p.Ser741Phe)
c.2423C>T (p.Ser808Phe)
c.2459C>T (p.Ser820Phe)
c.2435C>T (p.Ser812Phe)
13g.108208846G>CCA7043507LIG4c.2222C>G (p.Ser741Cys)
c.2423C>G (p.Ser808Cys)
c.2459C>G (p.Ser820Cys)
c.2435C>G (p.Ser812Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208846G=CA2117793946LIG4c.2222C= (p.Ser741=)
c.2423C= (p.Ser808=)
c.2459C= (p.Ser820=)
c.2435C= (p.Ser812=)
13g.108208846G>TCA388613198LIG4c.2222C>A (p.Ser741Tyr)
c.2423C>A (p.Ser808Tyr)
c.2459C>A (p.Ser820Tyr)
c.2435C>A (p.Ser812Tyr)
13g.108208847A=CA2117793947LIG4c.2221T= (p.Ser741=)
c.2422T= (p.Ser808=)
c.2458T= (p.Ser820=)
c.2434T= (p.Ser812=)
13g.108208847A>CCA388613199LIG4c.2221T>G (p.Ser741Ala)
c.2422T>G (p.Ser808Ala)
c.2458T>G (p.Ser820Ala)
c.2434T>G (p.Ser812Ala)
13g.108208847A>GCA388613200LIG4c.2221T>C (p.Ser741Pro)
c.2422T>C (p.Ser808Pro)
c.2458T>C (p.Ser820Pro)
c.2434T>C (p.Ser812Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.108208847A>TCA388613202LIG4c.2221T>A (p.Ser741Thr)
c.2422T>A (p.Ser808Thr)
c.2458T>A (p.Ser820Thr)
c.2434T>A (p.Ser812Thr)
13g.108208848G>ACA7043508LIG4c.2220C>T (p.Cys740=)
c.2421C>T (p.Cys807=)
c.2457C>T (p.Cys819=)
c.2433C>T (p.Cys811=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208848G>CCA388613205LIG4c.2220C>G (p.Cys740Trp)
c.2421C>G (p.Cys807Trp)
c.2457C>G (p.Cys819Trp)
c.2433C>G (p.Cys811Trp)
 dbSNP gnomAD v2 gnomAD v4
13g.108208848G=CA2117793948LIG4c.2220C= (p.Cys740=)
c.2421C= (p.Cys807=)
c.2457C= (p.Cys819=)
c.2433C= (p.Cys811=)
13g.108208848G>TCA388613204LIG4c.2220C>A (p.Cys740Ter)
c.2421C>A (p.Cys807Ter)
c.2457C>A (p.Cys819Ter)
c.2433C>A (p.Cys811Ter)
13g.108208849C>ACA388613206LIG4c.2219G>T (p.Cys740Phe)
c.2420G>T (p.Cys807Phe)
c.2456G>T (p.Cys819Phe)
c.2432G>T (p.Cys811Phe)
13g.108208849C>GCA388613208LIG4c.2219G>C (p.Cys740Ser)
c.2420G>C (p.Cys807Ser)
c.2456G>C (p.Cys819Ser)
c.2432G>C (p.Cys811Ser)
13g.108208849C>TCA388613210LIG4c.2219G>A (p.Cys740Tyr)
c.2420G>A (p.Cys807Tyr)
c.2456G>A (p.Cys819Tyr)
c.2432G>A (p.Cys811Tyr)
13g.108208850A>CCA388613211LIG4c.2218T>G (p.Cys740Gly)
c.2419T>G (p.Cys807Gly)
c.2455T>G (p.Cys819Gly)
c.2431T>G (p.Cys811Gly)
 gnomAD v4
13g.108208850A>GCA388613213LIG4c.2218T>C (p.Cys740Arg)
c.2419T>C (p.Cys807Arg)
c.2455T>C (p.Cys819Arg)
c.2431T>C (p.Cys811Arg)
13g.108208850A>TCA388613214LIG4c.2218T>A (p.Cys740Ser)
c.2419T>A (p.Cys807Ser)
c.2455T>A (p.Cys819Ser)
c.2431T>A (p.Cys811Ser)
13g.108208851A>CCA388613216LIG4c.2217T>G (p.Asp739Glu)
c.2418T>G (p.Asp806Glu)
c.2454T>G (p.Asp818Glu)
c.2430T>G (p.Asp810Glu)
13g.108208851A>GCA484975226LIG4c.2217T>C (p.Asp739=)
c.2418T>C (p.Asp806=)
c.2454T>C (p.Asp818=)
c.2430T>C (p.Asp810=)
 gnomAD v4
13g.108208851A>TCA388613218LIG4c.2217T>A (p.Asp739Glu)
c.2418T>A (p.Asp806Glu)
c.2454T>A (p.Asp818Glu)
c.2430T>A (p.Asp810Glu)
13g.108208852T>ACA388613220LIG4c.2216A>T (p.Asp739Val)
c.2417A>T (p.Asp806Val)
c.2453A>T (p.Asp818Val)
c.2429A>T (p.Asp810Val)
 dbSNP
13g.108208852T>CCA7043509LIG4c.2216A>G (p.Asp739Gly)
c.2417A>G (p.Asp806Gly)
c.2453A>G (p.Asp818Gly)
c.2429A>G (p.Asp810Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208852T>GCA388613222LIG4c.2216A>C (p.Asp739Ala)
c.2417A>C (p.Asp806Ala)
c.2453A>C (p.Asp818Ala)
c.2429A>C (p.Asp810Ala)
13g.108208852T=CA2117793949LIG4c.2216A= (p.Asp739=)
c.2417A= (p.Asp806=)
c.2453A= (p.Asp818=)
c.2429A= (p.Asp810=)

Number of alleles fetched