Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108208644A>CCA388610568LIG4c.2424T>G (p.Phe808Leu)
c.2625T>G (p.Phe875Leu)
c.2661T>G (p.Phe887Leu)
c.2637T>G (p.Phe879Leu)
13g.108208644A>GCA484781527LIG4c.2424T>C (p.Phe808=)
c.2625T>C (p.Phe875=)
c.2661T>C (p.Phe887=)
c.2637T>C (p.Phe879=)
13g.108208644A>TCA388610569LIG4c.2424T>A (p.Phe808Leu)
c.2625T>A (p.Phe875Leu)
c.2661T>A (p.Phe887Leu)
c.2637T>A (p.Phe879Leu)
13g.108208645A>CCA388610570LIG4c.2423T>G (p.Phe808Cys)
c.2624T>G (p.Phe875Cys)
c.2660T>G (p.Phe887Cys)
c.2636T>G (p.Phe879Cys)
13g.108208645A>GCA388610572LIG4c.2423T>C (p.Phe808Ser)
c.2624T>C (p.Phe875Ser)
c.2660T>C (p.Phe887Ser)
c.2636T>C (p.Phe879Ser)
 COSMIC
13g.108208645A>TCA388610574LIG4c.2423T>A (p.Phe808Tyr)
c.2624T>A (p.Phe875Tyr)
c.2660T>A (p.Phe887Tyr)
c.2636T>A (p.Phe879Tyr)
13g.108208646A>CCA388610577LIG4c.2422T>G (p.Phe808Val)
c.2623T>G (p.Phe875Val)
c.2659T>G (p.Phe887Val)
c.2635T>G (p.Phe879Val)
13g.108208646A>GCA388610578LIG4c.2422T>C (p.Phe808Leu)
c.2623T>C (p.Phe875Leu)
c.2659T>C (p.Phe887Leu)
c.2635T>C (p.Phe879Leu)
13g.108208646A>TCA388610576LIG4c.2422T>A (p.Phe808Ile)
c.2623T>A (p.Phe875Ile)
c.2659T>A (p.Phe887Ile)
c.2635T>A (p.Phe879Ile)
13g.108208647A>CCA388610580LIG4c.2421T>G (p.Asp807Glu)
c.2622T>G (p.Asp874Glu)
c.2658T>G (p.Asp886Glu)
c.2634T>G (p.Asp878Glu)
13g.108208647A>GCA484781528LIG4c.2421T>C (p.Asp807=)
c.2622T>C (p.Asp874=)
c.2658T>C (p.Asp886=)
c.2634T>C (p.Asp878=)
13g.108208647A>TCA388610582LIG4c.2421T>A (p.Asp807Glu)
c.2622T>A (p.Asp874Glu)
c.2658T>A (p.Asp886Glu)
c.2634T>A (p.Asp878Glu)
13g.108208648T>ACA388610584LIG4c.2420A>T (p.Asp807Val)
c.2621A>T (p.Asp874Val)
c.2657A>T (p.Asp886Val)
c.2633A>T (p.Asp878Val)
13g.108208648T>CCA388610586LIG4c.2420A>G (p.Asp807Gly)
c.2621A>G (p.Asp874Gly)
c.2657A>G (p.Asp886Gly)
c.2633A>G (p.Asp878Gly)
13g.108208648T>GCA388610587LIG4c.2420A>C (p.Asp807Ala)
c.2621A>C (p.Asp874Ala)
c.2657A>C (p.Asp886Ala)
c.2633A>C (p.Asp878Ala)
13g.108208649C>ACA388610590LIG4c.2419G>T (p.Asp807Tyr)
c.2620G>T (p.Asp874Tyr)
c.2656G>T (p.Asp886Tyr)
c.2632G>T (p.Asp878Tyr)
13g.108208649C>GCA388610589LIG4c.2419G>C (p.Asp807His)
c.2620G>C (p.Asp874His)
c.2656G>C (p.Asp886His)
c.2632G>C (p.Asp878His)
13g.108208649C>TCA388610588LIG4c.2419G>A (p.Asp807Asn)
c.2620G>A (p.Asp874Asn)
c.2656G>A (p.Asp886Asn)
c.2632G>A (p.Asp878Asn)
13g.108208650T>ACA484781529LIG4c.2418A>T (p.Ala806=)
c.2619A>T (p.Ala873=)
c.2655A>T (p.Ala885=)
c.2631A>T (p.Ala877=)
13g.108208650T>CCA484781530LIG4c.2418A>G (p.Ala806=)
c.2619A>G (p.Ala873=)
c.2655A>G (p.Ala885=)
c.2631A>G (p.Ala877=)
13g.108208650T>GCA484781531LIG4c.2418A>C (p.Ala806=)
c.2619A>C (p.Ala873=)
c.2655A>C (p.Ala885=)
c.2631A>C (p.Ala877=)
13g.108208651G>ACA388610592LIG4c.2417C>T (p.Ala806Val)
c.2618C>T (p.Ala873Val)
c.2654C>T (p.Ala885Val)
c.2630C>T (p.Ala877Val)
13g.108208651G>CCA388610594LIG4c.2417C>G (p.Ala806Gly)
c.2618C>G (p.Ala873Gly)
c.2654C>G (p.Ala885Gly)
c.2630C>G (p.Ala877Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.108208651G=CA2117793852LIG4c.2417C= (p.Ala806=)
c.2618C= (p.Ala873=)
c.2654C= (p.Ala885=)
c.2630C= (p.Ala877=)
13g.108208651G>TCA388610595LIG4c.2417C>A (p.Ala806Glu)
c.2618C>A (p.Ala873Glu)
c.2654C>A (p.Ala885Glu)
c.2630C>A (p.Ala877Glu)
13g.108208652C>ACA388610597LIG4c.2416G>T (p.Ala806Ser)
c.2617G>T (p.Ala873Ser)
c.2653G>T (p.Ala885Ser)
c.2629G>T (p.Ala877Ser)
 gnomAD v4
13g.108208652C>GCA388610599LIG4c.2416G>C (p.Ala806Pro)
c.2617G>C (p.Ala873Pro)
c.2653G>C (p.Ala885Pro)
c.2629G>C (p.Ala877Pro)
13g.108208652C>TCA388610600LIG4c.2416G>A (p.Ala806Thr)
c.2617G>A (p.Ala873Thr)
c.2653G>A (p.Ala885Thr)
c.2629G>A (p.Ala877Thr)
13g.108208653A>CCA484781532LIG4c.2415T>G (p.Val805=)
c.2616T>G (p.Val872=)
c.2652T>G (p.Val884=)
c.2628T>G (p.Val876=)
 gnomAD v4
13g.108208653A>GCA484781533LIG4c.2415T>C (p.Val805=)
c.2616T>C (p.Val872=)
c.2652T>C (p.Val884=)
c.2628T>C (p.Val876=)
 gnomAD v4
13g.108208653A>TCA484781534LIG4c.2415T>A (p.Val805=)
c.2616T>A (p.Val872=)
c.2652T>A (p.Val884=)
c.2628T>A (p.Val876=)
13g.108208654A>CCA388610604LIG4c.2414T>G (p.Val805Gly)
c.2615T>G (p.Val872Gly)
c.2651T>G (p.Val884Gly)
c.2627T>G (p.Val876Gly)
13g.108208654A>GCA388610602LIG4c.2414T>C (p.Val805Ala)
c.2615T>C (p.Val872Ala)
c.2651T>C (p.Val884Ala)
c.2627T>C (p.Val876Ala)
13g.108208654A>TCA388610603LIG4c.2414T>A (p.Val805Asp)
c.2615T>A (p.Val872Asp)
c.2651T>A (p.Val884Asp)
c.2627T>A (p.Val876Asp)
13g.108208655C>ACA388610605LIG4c.2413G>T (p.Val805Phe)
c.2614G>T (p.Val872Phe)
c.2650G>T (p.Val884Phe)
c.2626G>T (p.Val876Phe)
13g.108208655C=CA2117793853LIG4c.2413G= (p.Val805=)
c.2614G= (p.Val872=)
c.2650G= (p.Val884=)
c.2626G= (p.Val876=)
13g.108208655C>GCA388610607LIG4c.2413G>C (p.Val805Leu)
c.2614G>C (p.Val872Leu)
c.2650G>C (p.Val884Leu)
c.2626G>C (p.Val876Leu)
 dbSNP gnomAD v2 gnomAD v4
13g.108208655C>TCA388610609LIG4c.2413G>A (p.Val805Ile)
c.2614G>A (p.Val872Ile)
c.2650G>A (p.Val884Ile)
c.2626G>A (p.Val876Ile)
13g.108208656A=CA2117793854LIG4c.2412T= (p.Arg804=)
c.2613T= (p.Arg871=)
c.2649T= (p.Arg883=)
c.2625T= (p.Arg875=)
13g.108208656A>CCA484781535LIG4c.2412T>G (p.Arg804=)
c.2613T>G (p.Arg871=)
c.2649T>G (p.Arg883=)
c.2625T>G (p.Arg875=)
 gnomAD v4
13g.108208656A>GCA7043460LIG4c.2412T>C (p.Arg804=)
c.2613T>C (p.Arg871=)
c.2649T>C (p.Arg883=)
c.2625T>C (p.Arg875=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208656A>TCA484781536LIG4c.2412T>A (p.Arg804=)
c.2613T>A (p.Arg871=)
c.2649T>A (p.Arg883=)
c.2625T>A (p.Arg875=)
13g.108208657C>ACA388610611LIG4c.2411G>T (p.Arg804Leu)
c.2612G>T (p.Arg871Leu)
c.2648G>T (p.Arg883Leu)
c.2624G>T (p.Arg875Leu)
13g.108208657C=CA2117793855LIG4c.2411G= (p.Arg804=)
c.2612G= (p.Arg871=)
c.2648G= (p.Arg883=)
c.2624G= (p.Arg875=)
13g.108208657C>GCA388610612LIG4c.2411G>C (p.Arg804Pro)
c.2612G>C (p.Arg871Pro)
c.2648G>C (p.Arg883Pro)
c.2624G>C (p.Arg875Pro)
13g.108208657C>TCA7043461LIG4c.2411G>A (p.Arg804His)
c.2612G>A (p.Arg871His)
c.2648G>A (p.Arg883His)
c.2624G>A (p.Arg875His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108208658G>ACA388610615LIG4c.2410C>T (p.Arg804Cys)
c.2611C>T (p.Arg871Cys)
c.2647C>T (p.Arg883Cys)
c.2623C>T (p.Arg875Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208658G>CCA388610617LIG4c.2410C>G (p.Arg804Gly)
c.2611C>G (p.Arg871Gly)
c.2647C>G (p.Arg883Gly)
c.2623C>G (p.Arg875Gly)
13g.108208658G=CA2117793856LIG4c.2410C= (p.Arg804=)
c.2611C= (p.Arg871=)
c.2647C= (p.Arg883=)
c.2623C= (p.Arg875=)
13g.108208658G>TCA388610618LIG4c.2410C>A (p.Arg804Ser)
c.2611C>A (p.Arg871Ser)
c.2647C>A (p.Arg883Ser)
c.2623C>A (p.Arg875Ser)
13g.108208659A=CA2117793857LIG4c.2409T= (p.Ser803=)
c.2610T= (p.Ser870=)
c.2646T= (p.Ser882=)
c.2622T= (p.Ser874=)
13g.108208659A>CCA388610619LIG4c.2409T>G (p.Ser803Arg)
c.2610T>G (p.Ser870Arg)
c.2646T>G (p.Ser882Arg)
c.2622T>G (p.Ser874Arg)
13g.108208659A>GCA7043462LIG4c.2409T>C (p.Ser803=)
c.2610T>C (p.Ser870=)
c.2646T>C (p.Ser882=)
c.2622T>C (p.Ser874=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208659A>TCA388610620LIG4c.2409T>A (p.Ser803Arg)
c.2610T>A (p.Ser870Arg)
c.2646T>A (p.Ser882Arg)
c.2622T>A (p.Ser874Arg)
13g.108208660C>ACA388610622LIG4c.2408G>T (p.Ser803Ile)
c.2609G>T (p.Ser870Ile)
c.2645G>T (p.Ser882Ile)
c.2621G>T (p.Ser874Ile)
13g.108208660C>GCA388610625LIG4c.2408G>C (p.Ser803Thr)
c.2609G>C (p.Ser870Thr)
c.2645G>C (p.Ser882Thr)
c.2621G>C (p.Ser874Thr)
13g.108208660C>TCA388610624LIG4c.2408G>A (p.Ser803Asn)
c.2609G>A (p.Ser870Asn)
c.2645G>A (p.Ser882Asn)
c.2621G>A (p.Ser874Asn)
 ClinVar
13g.108208661T>ACA388610627LIG4c.2407A>T (p.Ser803Cys)
c.2608A>T (p.Ser870Cys)
c.2644A>T (p.Ser882Cys)
c.2620A>T (p.Ser874Cys)
13g.108208661T>CCA388610629LIG4c.2407A>G (p.Ser803Gly)
c.2608A>G (p.Ser870Gly)
c.2644A>G (p.Ser882Gly)
c.2620A>G (p.Ser874Gly)
 COSMIC
13g.108208661T>GCA388610630LIG4c.2407A>C (p.Ser803Arg)
c.2608A>C (p.Ser870Arg)
c.2644A>C (p.Ser882Arg)
c.2620A>C (p.Ser874Arg)
13g.108208662A>CCA388610632LIG4c.2406T>G (p.His802Gln)
c.2607T>G (p.His869Gln)
c.2643T>G (p.His881Gln)
c.2619T>G (p.His873Gln)
13g.108208662A>GCA484781537LIG4c.2406T>C (p.His802=)
c.2607T>C (p.His869=)
c.2643T>C (p.His881=)
c.2619T>C (p.His873=)
 gnomAD v4
13g.108208662A>TCA388610635LIG4c.2406T>A (p.His802Gln)
c.2607T>A (p.His869Gln)
c.2643T>A (p.His881Gln)
c.2619T>A (p.His873Gln)
13g.108208663T>ACA388610636LIG4c.2405A>T (p.His802Leu)
c.2606A>T (p.His869Leu)
c.2642A>T (p.His881Leu)
c.2618A>T (p.His873Leu)
 dbSNP
13g.108208663T>CCA388610637LIG4c.2405A>G (p.His802Arg)
c.2606A>G (p.His869Arg)
c.2642A>G (p.His881Arg)
c.2618A>G (p.His873Arg)
13g.108208663T>GCA388610638LIG4c.2405A>C (p.His802Pro)
c.2606A>C (p.His869Pro)
c.2642A>C (p.His881Pro)
c.2618A>C (p.His873Pro)
 gnomAD v4
13g.108208663T=CA2117793858LIG4c.2405A= (p.His802=)
c.2606A= (p.His869=)
c.2642A= (p.His881=)
c.2618A= (p.His873=)
13g.108208664G>ACA388610639LIG4c.2404C>T (p.His802Tyr)
c.2605C>T (p.His869Tyr)
c.2641C>T (p.His881Tyr)
c.2617C>T (p.His873Tyr)
13g.108208664G>CCA388610640LIG4c.2404C>G (p.His802Asp)
c.2605C>G (p.His869Asp)
c.2641C>G (p.His881Asp)
c.2617C>G (p.His873Asp)
13g.108208664G>TCA388610641LIG4c.2404C>A (p.His802Asn)
c.2605C>A (p.His869Asn)
c.2641C>A (p.His881Asn)
c.2617C>A (p.His873Asn)
13g.108208665A>CCA388610642LIG4c.2403T>G (p.Asp801Glu)
c.2604T>G (p.Asp868Glu)
c.2640T>G (p.Asp880Glu)
c.2616T>G (p.Asp872Glu)
13g.108208665A>GCA484781538LIG4c.2403T>C (p.Asp801=)
c.2604T>C (p.Asp868=)
c.2640T>C (p.Asp880=)
c.2616T>C (p.Asp872=)
13g.108208665A>TCA388610643LIG4c.2403T>A (p.Asp801Glu)
c.2604T>A (p.Asp868Glu)
c.2640T>A (p.Asp880Glu)
c.2616T>A (p.Asp872Glu)
13g.108208666T>ACA388610646LIG4c.2402A>T (p.Asp801Val)
c.2603A>T (p.Asp868Val)
c.2639A>T (p.Asp880Val)
c.2615A>T (p.Asp872Val)
13g.108208666T>CCA7043463LIG4c.2402A>G (p.Asp801Gly)
c.2603A>G (p.Asp868Gly)
c.2639A>G (p.Asp880Gly)
c.2615A>G (p.Asp872Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208666T>GCA388610645LIG4c.2402A>C (p.Asp801Ala)
c.2603A>C (p.Asp868Ala)
c.2639A>C (p.Asp880Ala)
c.2615A>C (p.Asp872Ala)
13g.108208666T=CA2117793859LIG4c.2402A= (p.Asp801=)
c.2603A= (p.Asp868=)
c.2639A= (p.Asp880=)
c.2615A= (p.Asp872=)
13g.108208667C>ACA388610649LIG4c.2401G>T (p.Asp801Tyr)
c.2602G>T (p.Asp868Tyr)
c.2638G>T (p.Asp880Tyr)
c.2614G>T (p.Asp872Tyr)
 COSMIC
13g.108208667C>GCA388610650LIG4c.2401G>C (p.Asp801His)
c.2602G>C (p.Asp868His)
c.2638G>C (p.Asp880His)
c.2614G>C (p.Asp872His)
13g.108208667C>TCA388610652LIG4c.2401G>A (p.Asp801Asn)
c.2602G>A (p.Asp868Asn)
c.2638G>A (p.Asp880Asn)
c.2614G>A (p.Asp872Asn)
 COSMIC
13g.108208668T>ACA388610653LIG4c.2400A>T (p.Glu800Asp)
c.2601A>T (p.Glu867Asp)
c.2637A>T (p.Glu879Asp)
c.2613A>T (p.Glu871Asp)
13g.108208668T>CCA484781539LIG4c.2400A>G (p.Glu800=)
c.2601A>G (p.Glu867=)
c.2637A>G (p.Glu879=)
c.2613A>G (p.Glu871=)
13g.108208668T>GCA388610655LIG4c.2400A>C (p.Glu800Asp)
c.2601A>C (p.Glu867Asp)
c.2637A>C (p.Glu879Asp)
c.2613A>C (p.Glu871Asp)
13g.108208669T>ACA388610656LIG4c.2399A>T (p.Glu800Val)
c.2600A>T (p.Glu867Val)
c.2636A>T (p.Glu879Val)
c.2612A>T (p.Glu871Val)
13g.108208669T>CCA388610658LIG4c.2399A>G (p.Glu800Gly)
c.2600A>G (p.Glu867Gly)
c.2636A>G (p.Glu879Gly)
c.2612A>G (p.Glu871Gly)
13g.108208669T>GCA388610660LIG4c.2399A>C (p.Glu800Ala)
c.2600A>C (p.Glu867Ala)
c.2636A>C (p.Glu879Ala)
c.2612A>C (p.Glu871Ala)
13g.108208670C>ACA388610662LIG4c.2398G>T (p.Glu800Ter)
c.2599G>T (p.Glu867Ter)
c.2635G>T (p.Glu879Ter)
c.2611G>T (p.Glu871Ter)
13g.108208670C=CA2117793860LIG4c.2398G= (p.Glu800=)
c.2599G= (p.Glu867=)
c.2635G= (p.Glu879=)
c.2611G= (p.Glu871=)
13g.108208670C>GCA388610663LIG4c.2398G>C (p.Glu800Gln)
c.2599G>C (p.Glu867Gln)
c.2635G>C (p.Glu879Gln)
c.2611G>C (p.Glu871Gln)
13g.108208670C>TCA388610665LIG4c.2398G>A (p.Glu800Lys)
c.2599G>A (p.Glu867Lys)
c.2635G>A (p.Glu879Lys)
c.2611G>A (p.Glu871Lys)
 dbSNP gnomAD v3 gnomAD v4
13g.108208671C>ACA484781540LIG4c.2397G>T (p.Gly799=)
c.2598G>T (p.Gly866=)
c.2634G>T (p.Gly878=)
c.2610G>T (p.Gly870=)
 dbSNP
13g.108208671C>GCA484781541LIG4c.2397G>C (p.Gly799=)
c.2598G>C (p.Gly866=)
c.2634G>C (p.Gly878=)
c.2610G>C (p.Gly870=)
13g.108208671C>TCA484781542LIG4c.2397G>A (p.Gly799=)
c.2598G>A (p.Gly866=)
c.2634G>A (p.Gly878=)
c.2610G>A (p.Gly870=)
13g.108208671_108208680dupCA2575452309LIG4c.2388_2397dup (p.Glu800AsnfsTer7)
c.2589_2598dup (p.Glu867AsnfsTer7)
c.2625_2634dup (p.Glu879AsnfsTer7)
c.2601_2610dup (p.Glu871AsnfsTer7)
 gnomAD v4
13g.108208672C>ACA388610670LIG4c.2396G>T (p.Gly799Val)
c.2597G>T (p.Gly866Val)
c.2633G>T (p.Gly878Val)
c.2609G>T (p.Gly870Val)
13g.108208672C=CA2117793861LIG4c.2396G= (p.Gly799=)
c.2597G= (p.Gly866=)
c.2633G= (p.Gly878=)
c.2609G= (p.Gly870=)
13g.108208672C>GCA388610669LIG4c.2396G>C (p.Gly799Ala)
c.2597G>C (p.Gly866Ala)
c.2633G>C (p.Gly878Ala)
c.2609G>C (p.Gly870Ala)
 dbSNP
13g.108208672C>TCA388610668LIG4c.2396G>A (p.Gly799Glu)
c.2597G>A (p.Gly866Glu)
c.2633G>A (p.Gly878Glu)
c.2609G>A (p.Gly870Glu)
13g.108208673C>ACA388610671LIG4c.2395G>T (p.Gly799Trp)
c.2596G>T (p.Gly866Trp)
c.2632G>T (p.Gly878Trp)
c.2608G>T (p.Gly870Trp)
13g.108208673C=CA2117793862LIG4c.2395G= (p.Gly799=)
c.2596G= (p.Gly866=)
c.2632G= (p.Gly878=)
c.2608G= (p.Gly870=)
13g.108208673C>GCA388610673LIG4c.2395G>C (p.Gly799Arg)
c.2596G>C (p.Gly866Arg)
c.2632G>C (p.Gly878Arg)
c.2608G>C (p.Gly870Arg)
13g.108208673C>TCA388610672LIG4c.2395G>A (p.Gly799Arg)
c.2596G>A (p.Gly866Arg)
c.2632G>A (p.Gly878Arg)
c.2608G>A (p.Gly870Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208673_108208674delinsCACA2117793864LIG4c.2394_2395delinsTG (p.Ile798=)
c.2595_2596delinsTG (p.Ile865=)
c.2631_2632delinsTG (p.Ile877=)
c.2607_2608delinsTG (p.Ile869=)
13g.108208673_108208677delinsCAATTCA2117793863LIG4c.2391_2395delinsAATTG (p.Ile797=)
c.2592_2596delinsAATTG (p.Ile864=)
c.2628_2632delinsAATTG (p.Ile876=)
c.2604_2608delinsAATTG (p.Ile868=)
13g.108208674A=CA2117793865LIG4c.2394T= (p.Ile798=)
c.2595T= (p.Ile865=)
c.2631T= (p.Ile877=)
c.2607T= (p.Ile869=)
13g.108208674A>CCA388610675LIG4c.2394T>G (p.Ile798Met)
c.2595T>G (p.Ile865Met)
c.2631T>G (p.Ile877Met)
c.2607T>G (p.Ile869Met)
13g.108208674A>GCA484781543LIG4c.2394T>C (p.Ile798=)
c.2595T>C (p.Ile865=)
c.2631T>C (p.Ile877=)
c.2607T>C (p.Ile869=)
13g.108208674A>TCA7043466LIG4c.2394T>A (p.Ile798=)
c.2595T>A (p.Ile865=)
c.2631T>A (p.Ile877=)
c.2607T>A (p.Ile869=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208675delCA7043464LIG4c.2394del (p.Ile798MetfsTer25)
c.2595del (p.Ile865MetfsTer25)
c.2631del (p.Ile877MetfsTer25)
c.2607del (p.Ile869MetfsTer25)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208675_108208678delCA7043465LIG4c.2391_2394del (p.Ile797MetfsTer25)
c.2592_2595del (p.Ile864MetfsTer25)
c.2628_2631del (p.Ile876MetfsTer25)
c.2604_2607del (p.Ile868MetfsTer25)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208675A>CCA388610683LIG4c.2393T>G (p.Ile798Ser)
c.2594T>G (p.Ile865Ser)
c.2630T>G (p.Ile877Ser)
c.2606T>G (p.Ile869Ser)
13g.108208675A>GCA388610679LIG4c.2393T>C (p.Ile798Thr)
c.2594T>C (p.Ile865Thr)
c.2630T>C (p.Ile877Thr)
c.2606T>C (p.Ile869Thr)
13g.108208675A>TCA388610682LIG4c.2393T>A (p.Ile798Asn)
c.2594T>A (p.Ile865Asn)
c.2630T>A (p.Ile877Asn)
c.2606T>A (p.Ile869Asn)
13g.108208676T>ACA388610684LIG4c.2392A>T (p.Ile798Phe)
c.2593A>T (p.Ile865Phe)
c.2629A>T (p.Ile877Phe)
c.2605A>T (p.Ile869Phe)
13g.108208676T>CCA388610685LIG4c.2392A>G (p.Ile798Val)
c.2593A>G (p.Ile865Val)
c.2629A>G (p.Ile877Val)
c.2605A>G (p.Ile869Val)
 dbSNP gnomAD v3 gnomAD v4
13g.108208676T>GCA388610686LIG4c.2392A>C (p.Ile798Leu)
c.2593A>C (p.Ile865Leu)
c.2629A>C (p.Ile877Leu)
c.2605A>C (p.Ile869Leu)
13g.108208676T=CA2117793866LIG4c.2392A= (p.Ile798=)
c.2593A= (p.Ile865=)
c.2629A= (p.Ile877=)
c.2605A= (p.Ile869=)
13g.108208677T>ACA484781544LIG4c.2391A>T (p.Ile797=)
c.2592A>T (p.Ile864=)
c.2628A>T (p.Ile876=)
c.2604A>T (p.Ile868=)
13g.108208677T>CCA388610687LIG4c.2391A>G (p.Ile797Met)
c.2592A>G (p.Ile864Met)
c.2628A>G (p.Ile876Met)
c.2604A>G (p.Ile868Met)
 ClinVar dbSNP gnomAD v4
13g.108208677T>GCA484781545LIG4c.2391A>C (p.Ile797=)
c.2592A>C (p.Ile864=)
c.2628A>C (p.Ile876=)
c.2604A>C (p.Ile868=)
 dbSNP
13g.108208678A>CCA388610692LIG4c.2390T>G (p.Ile797Arg)
c.2591T>G (p.Ile864Arg)
c.2627T>G (p.Ile876Arg)
c.2603T>G (p.Ile868Arg)
13g.108208678A>GCA388610690LIG4c.2390T>C (p.Ile797Thr)
c.2591T>C (p.Ile864Thr)
c.2627T>C (p.Ile876Thr)
c.2603T>C (p.Ile868Thr)
13g.108208678A>TCA388610689LIG4c.2390T>A (p.Ile797Lys)
c.2591T>A (p.Ile864Lys)
c.2627T>A (p.Ile876Lys)
c.2603T>A (p.Ile868Lys)
13g.108208679T>ACA388610694LIG4c.2389A>T (p.Ile797Leu)
c.2590A>T (p.Ile864Leu)
c.2626A>T (p.Ile876Leu)
c.2602A>T (p.Ile868Leu)
13g.108208679T>CCA388610696LIG4c.2389A>G (p.Ile797Val)
c.2590A>G (p.Ile864Val)
c.2626A>G (p.Ile876Val)
c.2602A>G (p.Ile868Val)
13g.108208679T>GCA388610697LIG4c.2389A>C (p.Ile797Leu)
c.2590A>C (p.Ile864Leu)
c.2626A>C (p.Ile876Leu)
c.2602A>C (p.Ile868Leu)
13g.108208680T>ACA484781546LIG4c.2388A>T (p.Val796=)
c.2589A>T (p.Val863=)
c.2625A>T (p.Val875=)
c.2601A>T (p.Val867=)
13g.108208680T>CCA484781547LIG4c.2388A>G (p.Val796=)
c.2589A>G (p.Val863=)
c.2625A>G (p.Val875=)
c.2601A>G (p.Val867=)
13g.108208680T>GCA484781548LIG4c.2388A>C (p.Val796=)
c.2589A>C (p.Val863=)
c.2625A>C (p.Val875=)
c.2601A>C (p.Val867=)
13g.108208681A>CCA388610699LIG4c.2387T>G (p.Val796Gly)
c.2588T>G (p.Val863Gly)
c.2624T>G (p.Val875Gly)
c.2600T>G (p.Val867Gly)
13g.108208681A>GCA388610701LIG4c.2387T>C (p.Val796Ala)
c.2588T>C (p.Val863Ala)
c.2624T>C (p.Val875Ala)
c.2600T>C (p.Val867Ala)
13g.108208681A>TCA388610702LIG4c.2387T>A (p.Val796Glu)
c.2588T>A (p.Val863Glu)
c.2624T>A (p.Val875Glu)
c.2600T>A (p.Val867Glu)
13g.108208682C>ACA388610704LIG4c.2386G>T (p.Val796Leu)
c.2587G>T (p.Val863Leu)
c.2623G>T (p.Val875Leu)
c.2599G>T (p.Val867Leu)
13g.108208682C>GCA388610707LIG4c.2386G>C (p.Val796Leu)
c.2587G>C (p.Val863Leu)
c.2623G>C (p.Val875Leu)
c.2599G>C (p.Val867Leu)
13g.108208682C>TCA388610706LIG4c.2386G>A (p.Val796Ile)
c.2587G>A (p.Val863Ile)
c.2623G>A (p.Val875Ile)
c.2599G>A (p.Val867Ile)
13g.108208682_108208684delinsCATCA2117793867LIG4c.2384_2386delinsATG (p.His795=)
c.2585_2587delinsATG (p.His862=)
c.2621_2623delinsATG (p.His874=)
c.2597_2599delinsATG (p.His866=)
13g.108208683A=CA2117793868LIG4c.2385T= (p.His795=)
c.2586T= (p.His862=)
c.2622T= (p.His874=)
c.2598T= (p.His866=)
13g.108208683A>CCA388610708LIG4c.2385T>G (p.His795Gln)
c.2586T>G (p.His862Gln)
c.2622T>G (p.His874Gln)
c.2598T>G (p.His866Gln)
13g.108208683A>GCA484781549LIG4c.2385T>C (p.His795=)
c.2586T>C (p.His862=)
c.2622T>C (p.His874=)
c.2598T>C (p.His866=)
 gnomAD v4
13g.108208683A>TCA7043467LIG4c.2385T>A (p.His795Gln)
c.2586T>A (p.His862Gln)
c.2622T>A (p.His874Gln)
c.2598T>A (p.His866Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208683_108208684delCA612360478LIG4c.2384_2385del (p.His795ArgfsTer8)
c.2585_2586del (p.His862ArgfsTer8)
c.2621_2622del (p.His874ArgfsTer8)
c.2597_2598del (p.His866ArgfsTer8)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208684T>ACA388610710LIG4c.2384A>T (p.His795Leu)
c.2585A>T (p.His862Leu)
c.2621A>T (p.His874Leu)
c.2597A>T (p.His866Leu)
13g.108208684T>CCA388610712LIG4c.2384A>G (p.His795Arg)
c.2585A>G (p.His862Arg)
c.2621A>G (p.His874Arg)
c.2597A>G (p.His866Arg)
 gnomAD v4
13g.108208684T>GCA388610713LIG4c.2384A>C (p.His795Pro)
c.2585A>C (p.His862Pro)
c.2621A>C (p.His874Pro)
c.2597A>C (p.His866Pro)
 gnomAD v4
13g.108208685G>ACA7043468LIG4c.2383C>T (p.His795Tyr)
c.2584C>T (p.His862Tyr)
c.2620C>T (p.His874Tyr)
c.2596C>T (p.His866Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208685G>CCA388610715LIG4c.2383C>G (p.His795Asp)
c.2584C>G (p.His862Asp)
c.2620C>G (p.His874Asp)
c.2596C>G (p.His866Asp)
 gnomAD v4
13g.108208685G=CA2117793869LIG4c.2383C= (p.His795=)
c.2584C= (p.His862=)
c.2620C= (p.His874=)
c.2596C= (p.His866=)
13g.108208685G>TCA388610716LIG4c.2383C>A (p.His795Asn)
c.2584C>A (p.His862Asn)
c.2620C>A (p.His874Asn)
c.2596C>A (p.His866Asn)
13g.108208686A>CCA484781550LIG4c.2382T>G (p.Ser794=)
c.2583T>G (p.Ser861=)
c.2619T>G (p.Ser873=)
c.2595T>G (p.Ser865=)
13g.108208686A>GCA484781551LIG4c.2382T>C (p.Ser794=)
c.2583T>C (p.Ser861=)
c.2619T>C (p.Ser873=)
c.2595T>C (p.Ser865=)
13g.108208686A>TCA484781552LIG4c.2382T>A (p.Ser794=)
c.2583T>A (p.Ser861=)
c.2619T>A (p.Ser873=)
c.2595T>A (p.Ser865=)
13g.108208687G>ACA388610717LIG4c.2381C>T (p.Ser794Phe)
c.2582C>T (p.Ser861Phe)
c.2618C>T (p.Ser873Phe)
c.2594C>T (p.Ser865Phe)
 gnomAD v4
13g.108208687G>CCA388610718LIG4c.2381C>G (p.Ser794Cys)
c.2582C>G (p.Ser861Cys)
c.2618C>G (p.Ser873Cys)
c.2594C>G (p.Ser865Cys)
13g.108208687G>TCA388610719LIG4c.2381C>A (p.Ser794Tyr)
c.2582C>A (p.Ser861Tyr)
c.2618C>A (p.Ser873Tyr)
c.2594C>A (p.Ser865Tyr)
13g.108208688A>CCA388610720LIG4c.2380T>G (p.Ser794Ala)
c.2581T>G (p.Ser861Ala)
c.2617T>G (p.Ser873Ala)
c.2593T>G (p.Ser865Ala)
13g.108208688A>GCA388610722LIG4c.2380T>C (p.Ser794Pro)
c.2581T>C (p.Ser861Pro)
c.2617T>C (p.Ser873Pro)
c.2593T>C (p.Ser865Pro)
13g.108208688A>TCA388610721LIG4c.2380T>A (p.Ser794Thr)
c.2581T>A (p.Ser861Thr)
c.2617T>A (p.Ser873Thr)
c.2593T>A (p.Ser865Thr)
13g.108208689C>ACA484781554LIG4c.2379G>T (p.Val793=)
c.2580G>T (p.Val860=)
c.2616G>T (p.Val872=)
c.2592G>T (p.Val864=)
13g.108208689C>GCA484781555LIG4c.2379G>C (p.Val793=)
c.2580G>C (p.Val860=)
c.2616G>C (p.Val872=)
c.2592G>C (p.Val864=)
13g.108208689C>TCA484781553LIG4c.2379G>A (p.Val793=)
c.2580G>A (p.Val860=)
c.2616G>A (p.Val872=)
c.2592G>A (p.Val864=)
 ClinVar gnomAD v4
13g.108208690A>CCA388610723LIG4c.2378T>G (p.Val793Gly)
c.2579T>G (p.Val860Gly)
c.2615T>G (p.Val872Gly)
c.2591T>G (p.Val864Gly)
13g.108208690A>GCA388610724LIG4c.2378T>C (p.Val793Ala)
c.2579T>C (p.Val860Ala)
c.2615T>C (p.Val872Ala)
c.2591T>C (p.Val864Ala)
13g.108208690A>TCA388610725LIG4c.2378T>A (p.Val793Glu)
c.2579T>A (p.Val860Glu)
c.2615T>A (p.Val872Glu)
c.2591T>A (p.Val864Glu)
13g.108208691C>ACA388610726LIG4c.2377G>T (p.Val793Leu)
c.2578G>T (p.Val860Leu)
c.2614G>T (p.Val872Leu)
c.2590G>T (p.Val864Leu)
13g.108208691C=CA2117793870LIG4c.2377G= (p.Val793=)
c.2578G= (p.Val860=)
c.2614G= (p.Val872=)
c.2590G= (p.Val864=)
13g.108208691C>GCA388610727LIG4c.2377G>C (p.Val793Leu)
c.2578G>C (p.Val860Leu)
c.2614G>C (p.Val872Leu)
c.2590G>C (p.Val864Leu)
13g.108208691C>TCA388610728LIG4c.2377G>A (p.Val793Met)
c.2578G>A (p.Val860Met)
c.2614G>A (p.Val872Met)
c.2590G>A (p.Val864Met)
 dbSNP gnomAD v2 gnomAD v4
13g.108208692T>ACA484781558LIG4c.2376A>T (p.Gly792=)
c.2577A>T (p.Gly859=)
c.2613A>T (p.Gly871=)
c.2589A>T (p.Gly863=)
 gnomAD v4
13g.108208692T>CCA484781556LIG4c.2376A>G (p.Gly792=)
c.2577A>G (p.Gly859=)
c.2613A>G (p.Gly871=)
c.2589A>G (p.Gly863=)
13g.108208692T>GCA484781557LIG4c.2376A>C (p.Gly792=)
c.2577A>C (p.Gly859=)
c.2613A>C (p.Gly871=)
c.2589A>C (p.Gly863=)
13g.108208693C>ACA7043469LIG4c.2375G>T (p.Gly792Val)
c.2576G>T (p.Gly859Val)
c.2612G>T (p.Gly871Val)
c.2588G>T (p.Gly863Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208693C=CA2117793871LIG4c.2375G= (p.Gly792=)
c.2576G= (p.Gly859=)
c.2612G= (p.Gly871=)
c.2588G= (p.Gly863=)
13g.108208693C>GCA388610729LIG4c.2375G>C (p.Gly792Ala)
c.2576G>C (p.Gly859Ala)
c.2612G>C (p.Gly871Ala)
c.2588G>C (p.Gly863Ala)
 dbSNP
13g.108208693C>TCA388610730LIG4c.2375G>A (p.Gly792Glu)
c.2576G>A (p.Gly859Glu)
c.2612G>A (p.Gly871Glu)
c.2588G>A (p.Gly863Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208694C>ACA388610731LIG4c.2374G>T (p.Gly792Ter)
c.2575G>T (p.Gly859Ter)
c.2611G>T (p.Gly871Ter)
c.2587G>T (p.Gly863Ter)
13g.108208694C=CA2117793872LIG4c.2374G= (p.Gly792=)
c.2575G= (p.Gly859=)
c.2611G= (p.Gly871=)
c.2587G= (p.Gly863=)
13g.108208694C>GCA388610732LIG4c.2374G>C (p.Gly792Arg)
c.2575G>C (p.Gly859Arg)
c.2611G>C (p.Gly871Arg)
c.2587G>C (p.Gly863Arg)
 dbSNP
13g.108208694C>TCA388610733LIG4c.2374G>A (p.Gly792Arg)
c.2575G>A (p.Gly859Arg)
c.2611G>A (p.Gly871Arg)
c.2587G>A (p.Gly863Arg)
 dbSNP
13g.108208695C>ACA388610735LIG4c.2373G>T (p.Glu791Asp)
c.2574G>T (p.Glu858Asp)
c.2610G>T (p.Glu870Asp)
c.2586G>T (p.Glu862Asp)
13g.108208695C>GCA388610734LIG4c.2373G>C (p.Glu791Asp)
c.2574G>C (p.Glu858Asp)
c.2610G>C (p.Glu870Asp)
c.2586G>C (p.Glu862Asp)
13g.108208695C>TCA484781559LIG4c.2373G>A (p.Glu791=)
c.2574G>A (p.Glu858=)
c.2610G>A (p.Glu870=)
c.2586G>A (p.Glu862=)
13g.108208696T>ACA388610736LIG4c.2372A>T (p.Glu791Val)
c.2573A>T (p.Glu858Val)
c.2609A>T (p.Glu870Val)
c.2585A>T (p.Glu862Val)
13g.108208696T>CCA388610737LIG4c.2372A>G (p.Glu791Gly)
c.2573A>G (p.Glu858Gly)
c.2609A>G (p.Glu870Gly)
c.2585A>G (p.Glu862Gly)
13g.108208696T>GCA388610738LIG4c.2372A>C (p.Glu791Ala)
c.2573A>C (p.Glu858Ala)
c.2609A>C (p.Glu870Ala)
c.2585A>C (p.Glu862Ala)
13g.108208697C>ACA388610741LIG4c.2371G>T (p.Glu791Ter)
c.2572G>T (p.Glu858Ter)
c.2608G>T (p.Glu870Ter)
c.2584G>T (p.Glu862Ter)
 gnomAD v4
13g.108208697C>GCA388610743LIG4c.2371G>C (p.Glu791Gln)
c.2572G>C (p.Glu858Gln)
c.2608G>C (p.Glu870Gln)
c.2584G>C (p.Glu862Gln)
13g.108208697C>TCA388610744LIG4c.2371G>A (p.Glu791Lys)
c.2572G>A (p.Glu858Lys)
c.2608G>A (p.Glu870Lys)
c.2584G>A (p.Glu862Lys)
 gnomAD v4
13g.108208698A>CCA484781562LIG4c.2370T>G (p.Ala790=)
c.2571T>G (p.Ala857=)
c.2607T>G (p.Ala869=)
c.2583T>G (p.Ala861=)
13g.108208698A>GCA484781560LIG4c.2370T>C (p.Ala790=)
c.2571T>C (p.Ala857=)
c.2607T>C (p.Ala869=)
c.2583T>C (p.Ala861=)
13g.108208698A>TCA484781561LIG4c.2370T>A (p.Ala790=)
c.2571T>A (p.Ala857=)
c.2607T>A (p.Ala869=)
c.2583T>A (p.Ala861=)
13g.108208699G>ACA388610747LIG4c.2369C>T (p.Ala790Val)
c.2570C>T (p.Ala857Val)
c.2606C>T (p.Ala869Val)
c.2582C>T (p.Ala861Val)
13g.108208699G>CCA388610748LIG4c.2369C>G (p.Ala790Gly)
c.2570C>G (p.Ala857Gly)
c.2606C>G (p.Ala869Gly)
c.2582C>G (p.Ala861Gly)
13g.108208699G>TCA388610750LIG4c.2369C>A (p.Ala790Asp)
c.2570C>A (p.Ala857Asp)
c.2606C>A (p.Ala869Asp)
c.2582C>A (p.Ala861Asp)
13g.108208700C>ACA388610752LIG4c.2368G>T (p.Ala790Ser)
c.2569G>T (p.Ala857Ser)
c.2605G>T (p.Ala869Ser)
c.2581G>T (p.Ala861Ser)
13g.108208700C=CA2117793873LIG4c.2368G= (p.Ala790=)
c.2569G= (p.Ala857=)
c.2605G= (p.Ala869=)
c.2581G= (p.Ala861=)
13g.108208700C>GCA388610754LIG4c.2368G>C (p.Ala790Pro)
c.2569G>C (p.Ala857Pro)
c.2605G>C (p.Ala869Pro)
c.2581G>C (p.Ala861Pro)
13g.108208700C>TCA7043470LIG4c.2368G>A (p.Ala790Thr)
c.2569G>A (p.Ala857Thr)
c.2605G>A (p.Ala869Thr)
c.2581G>A (p.Ala861Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208701T>ACA388610760LIG4c.2367A>T (p.Leu789Phe)
c.2568A>T (p.Leu856Phe)
c.2604A>T (p.Leu868Phe)
c.2580A>T (p.Leu860Phe)
13g.108208701T>CCA484781563LIG4c.2367A>G (p.Leu789=)
c.2568A>G (p.Leu856=)
c.2604A>G (p.Leu868=)
c.2580A>G (p.Leu860=)
13g.108208701T>GCA388610758LIG4c.2367A>C (p.Leu789Phe)
c.2568A>C (p.Leu856Phe)
c.2604A>C (p.Leu868Phe)
c.2580A>C (p.Leu860Phe)
13g.108208702A=CA2117793874LIG4c.2366T= (p.Leu789=)
c.2567T= (p.Leu856=)
c.2603T= (p.Leu868=)
c.2579T= (p.Leu860=)
13g.108208702A>CCA388610762LIG4c.2366T>G (p.Leu789Ter)
c.2567T>G (p.Leu856Ter)
c.2603T>G (p.Leu868Ter)
c.2579T>G (p.Leu860Ter)
13g.108208702A>GCA388610766LIG4c.2366T>C (p.Leu789Ser)
c.2567T>C (p.Leu856Ser)
c.2603T>C (p.Leu868Ser)
c.2579T>C (p.Leu860Ser)
 dbSNP gnomAD v4
13g.108208702A>TCA388610764LIG4c.2366T>A (p.Leu789Ter)
c.2567T>A (p.Leu856Ter)
c.2603T>A (p.Leu868Ter)
c.2579T>A (p.Leu860Ter)
13g.108208703A>CCA388610768LIG4c.2365T>G (p.Leu789Val)
c.2566T>G (p.Leu856Val)
c.2602T>G (p.Leu868Val)
c.2578T>G (p.Leu860Val)
13g.108208703A>GCA484781564LIG4c.2365T>C (p.Leu789=)
c.2566T>C (p.Leu856=)
c.2602T>C (p.Leu868=)
c.2578T>C (p.Leu860=)
13g.108208703A>TCA388610770LIG4c.2365T>A (p.Leu789Ile)
c.2566T>A (p.Leu856Ile)
c.2602T>A (p.Leu868Ile)
c.2578T>A (p.Leu860Ile)
13g.108208704A>CCA388610772LIG4c.2364T>G (p.Cys788Trp)
c.2565T>G (p.Cys855Trp)
c.2601T>G (p.Cys867Trp)
c.2577T>G (p.Cys859Trp)
13g.108208704A>GCA484781565LIG4c.2364T>C (p.Cys788=)
c.2565T>C (p.Cys855=)
c.2601T>C (p.Cys867=)
c.2577T>C (p.Cys859=)
13g.108208704A>TCA388610775LIG4c.2364T>A (p.Cys788Ter)
c.2565T>A (p.Cys855Ter)
c.2601T>A (p.Cys867Ter)
c.2577T>A (p.Cys859Ter)
13g.108208705C>ACA388610776LIG4c.2363G>T (p.Cys788Phe)
c.2564G>T (p.Cys855Phe)
c.2600G>T (p.Cys867Phe)
c.2576G>T (p.Cys859Phe)
13g.108208705C=CA2117793875LIG4c.2363G= (p.Cys788=)
c.2564G= (p.Cys855=)
c.2600G= (p.Cys867=)
c.2576G= (p.Cys859=)
13g.108208705C>GCA388610778LIG4c.2363G>C (p.Cys788Ser)
c.2564G>C (p.Cys855Ser)
c.2600G>C (p.Cys867Ser)
c.2576G>C (p.Cys859Ser)
 dbSNP gnomAD v3 gnomAD v4
13g.108208705C>TCA388610780LIG4c.2363G>A (p.Cys788Tyr)
c.2564G>A (p.Cys855Tyr)
c.2600G>A (p.Cys867Tyr)
c.2576G>A (p.Cys859Tyr)
 gnomAD v4
13g.108208706A>CCA388610782LIG4c.2362T>G (p.Cys788Gly)
c.2563T>G (p.Cys855Gly)
c.2599T>G (p.Cys867Gly)
c.2575T>G (p.Cys859Gly)
 gnomAD v4
13g.108208706A>GCA388610785LIG4c.2362T>C (p.Cys788Arg)
c.2563T>C (p.Cys855Arg)
c.2599T>C (p.Cys867Arg)
c.2575T>C (p.Cys859Arg)
13g.108208706A>TCA388610787LIG4c.2362T>A (p.Cys788Ser)
c.2563T>A (p.Cys855Ser)
c.2599T>A (p.Cys867Ser)
c.2575T>A (p.Cys859Ser)
13g.108208707A>CCA484974927LIG4c.2361T>G (p.Ser787=)
c.2562T>G (p.Ser854=)
c.2598T>G (p.Ser866=)
c.2574T>G (p.Ser858=)
13g.108208707A>GCA484974928LIG4c.2361T>C (p.Ser787=)
c.2562T>C (p.Ser854=)
c.2598T>C (p.Ser866=)
c.2574T>C (p.Ser858=)
13g.108208707A>TCA484974929LIG4c.2361T>A (p.Ser787=)
c.2562T>A (p.Ser854=)
c.2598T>A (p.Ser866=)
c.2574T>A (p.Ser858=)
13g.108208708G>ACA388612478LIG4c.2360C>T (p.Ser787Phe)
c.2561C>T (p.Ser854Phe)
c.2597C>T (p.Ser866Phe)
c.2573C>T (p.Ser858Phe)
 COSMIC
13g.108208708G>CCA388612479LIG4c.2360C>G (p.Ser787Cys)
c.2561C>G (p.Ser854Cys)
c.2597C>G (p.Ser866Cys)
c.2573C>G (p.Ser858Cys)
 dbSNP
13g.108208708G=CA2117793876LIG4c.2360C= (p.Ser787=)
c.2561C= (p.Ser854=)
c.2597C= (p.Ser866=)
c.2573C= (p.Ser858=)
13g.108208708G>TCA7043471LIG4c.2360C>A (p.Ser787Tyr)
c.2561C>A (p.Ser854Tyr)
c.2597C>A (p.Ser866Tyr)
c.2573C>A (p.Ser858Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.108208709A>CCA388612480LIG4c.2359T>G (p.Ser787Ala)
c.2560T>G (p.Ser854Ala)
c.2596T>G (p.Ser866Ala)
c.2572T>G (p.Ser858Ala)
13g.108208709A>GCA388612482LIG4c.2359T>C (p.Ser787Pro)
c.2560T>C (p.Ser854Pro)
c.2596T>C (p.Ser866Pro)
c.2572T>C (p.Ser858Pro)
 gnomAD v4
13g.108208709A>TCA388612481LIG4c.2359T>A (p.Ser787Thr)
c.2560T>A (p.Ser854Thr)
c.2596T>A (p.Ser866Thr)
c.2572T>A (p.Ser858Thr)
13g.108208710A>CCA484974930LIG4c.2358T>G (p.Val786=)
c.2559T>G (p.Val853=)
c.2595T>G (p.Val865=)
c.2571T>G (p.Val857=)
 dbSNP
13g.108208710A>GCA484974931LIG4c.2358T>C (p.Val786=)
c.2559T>C (p.Val853=)
c.2595T>C (p.Val865=)
c.2571T>C (p.Val857=)
13g.108208710A>TCA484974932LIG4c.2358T>A (p.Val786=)
c.2559T>A (p.Val853=)
c.2595T>A (p.Val865=)
c.2571T>A (p.Val857=)
13g.108208711A>CCA388612485LIG4c.2357T>G (p.Val786Gly)
c.2558T>G (p.Val853Gly)
c.2594T>G (p.Val865Gly)
c.2570T>G (p.Val857Gly)
13g.108208711A>GCA388612487LIG4c.2357T>C (p.Val786Ala)
c.2558T>C (p.Val853Ala)
c.2594T>C (p.Val865Ala)
c.2570T>C (p.Val857Ala)
13g.108208711A>TCA388612489LIG4c.2357T>A (p.Val786Asp)
c.2558T>A (p.Val853Asp)
c.2594T>A (p.Val865Asp)
c.2570T>A (p.Val857Asp)
13g.108208712C>ACA388612492LIG4c.2356G>T (p.Val786Phe)
c.2557G>T (p.Val853Phe)
c.2593G>T (p.Val865Phe)
c.2569G>T (p.Val857Phe)
13g.108208712C>GCA388612495LIG4c.2356G>C (p.Val786Leu)
c.2557G>C (p.Val853Leu)
c.2593G>C (p.Val865Leu)
c.2569G>C (p.Val857Leu)
13g.108208712C>TCA388612497LIG4c.2356G>A (p.Val786Ile)
c.2557G>A (p.Val853Ile)
c.2593G>A (p.Val865Ile)
c.2569G>A (p.Val857Ile)
13g.108208713T>ACA484974933LIG4c.2355A>T (p.Val785=)
c.2556A>T (p.Val852=)
c.2592A>T (p.Val864=)
c.2568A>T (p.Val856=)
13g.108208713T>CCA7043472LIG4c.2355A>G (p.Val785=)
c.2556A>G (p.Val852=)
c.2592A>G (p.Val864=)
c.2568A>G (p.Val856=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208713T>GCA484974934LIG4c.2355A>C (p.Val785=)
c.2556A>C (p.Val852=)
c.2592A>C (p.Val864=)
c.2568A>C (p.Val856=)
13g.108208713T=CA2117793877LIG4c.2355A= (p.Val785=)
c.2556A= (p.Val852=)
c.2592A= (p.Val864=)
c.2568A= (p.Val856=)
13g.108208714A=CA2117793878LIG4c.2354T= (p.Val785=)
c.2555T= (p.Val852=)
c.2591T= (p.Val864=)
c.2567T= (p.Val856=)
13g.108208714A>CCA388612500LIG4c.2354T>G (p.Val785Gly)
c.2555T>G (p.Val852Gly)
c.2591T>G (p.Val864Gly)
c.2567T>G (p.Val856Gly)
13g.108208714A>GCA388612502LIG4c.2354T>C (p.Val785Ala)
c.2555T>C (p.Val852Ala)
c.2591T>C (p.Val864Ala)
c.2567T>C (p.Val856Ala)
 dbSNP gnomAD v3 gnomAD v4
13g.108208714A>TCA388612505LIG4c.2354T>A (p.Val785Glu)
c.2555T>A (p.Val852Glu)
c.2591T>A (p.Val864Glu)
c.2567T>A (p.Val856Glu)
13g.108208715C>ACA388612511LIG4c.2353G>T (p.Val785Leu)
c.2554G>T (p.Val852Leu)
c.2590G>T (p.Val864Leu)
c.2566G>T (p.Val856Leu)
13g.108208715C>GCA388612509LIG4c.2353G>C (p.Val785Leu)
c.2554G>C (p.Val852Leu)
c.2590G>C (p.Val864Leu)
c.2566G>C (p.Val856Leu)
 gnomAD v4
13g.108208715C>TCA388612507LIG4c.2353G>A (p.Val785Ile)
c.2554G>A (p.Val852Ile)
c.2590G>A (p.Val864Ile)
c.2566G>A (p.Val856Ile)
 COSMIC
13g.108208716T>ACA388612512LIG4c.2352A>T (p.Lys784Asn)
c.2553A>T (p.Lys851Asn)
c.2589A>T (p.Lys863Asn)
c.2565A>T (p.Lys855Asn)
13g.108208716T>CCA484974936LIG4c.2352A>G (p.Lys784=)
c.2553A>G (p.Lys851=)
c.2589A>G (p.Lys863=)
c.2565A>G (p.Lys855=)
13g.108208716T>GCA388612513LIG4c.2352A>C (p.Lys784Asn)
c.2553A>C (p.Lys851Asn)
c.2589A>C (p.Lys863Asn)
c.2565A>C (p.Lys855Asn)
13g.108208719delCA2623644095LIG4c.2352del (p.Val785Ter)
c.2553del (p.Val852Ter)
c.2589del (p.Val864Ter)
c.2565del (p.Val856Ter)
 gnomAD v4
13g.108208717T>ACA388612515LIG4c.2351A>T (p.Lys784Ile)
c.2552A>T (p.Lys851Ile)
c.2588A>T (p.Lys863Ile)
c.2564A>T (p.Lys855Ile)
13g.108208717T>CCA388612519LIG4c.2351A>G (p.Lys784Arg)
c.2552A>G (p.Lys851Arg)
c.2588A>G (p.Lys863Arg)
c.2564A>G (p.Lys855Arg)
13g.108208717T>GCA388612532LIG4c.2351A>C (p.Lys784Thr)
c.2552A>C (p.Lys851Thr)
c.2588A>C (p.Lys863Thr)
c.2564A>C (p.Lys855Thr)
13g.108208718T>ACA388612535LIG4c.2350A>T (p.Lys784Ter)
c.2551A>T (p.Lys851Ter)
c.2587A>T (p.Lys863Ter)
c.2563A>T (p.Lys855Ter)
13g.108208718T>CCA388612534LIG4c.2350A>G (p.Lys784Glu)
c.2551A>G (p.Lys851Glu)
c.2587A>G (p.Lys863Glu)
c.2563A>G (p.Lys855Glu)
13g.108208718T>GCA388612533LIG4c.2350A>C (p.Lys784Gln)
c.2551A>C (p.Lys851Gln)
c.2587A>C (p.Lys863Gln)
c.2563A>C (p.Lys855Gln)
13g.108208719T>ACA484974939LIG4c.2349A>T (p.Ala783=)
c.2550A>T (p.Ala850=)
c.2586A>T (p.Ala862=)
c.2562A>T (p.Ala854=)
13g.108208719T>CCA484974940LIG4c.2349A>G (p.Ala783=)
c.2550A>G (p.Ala850=)
c.2586A>G (p.Ala862=)
c.2562A>G (p.Ala854=)
13g.108208719T>GCA484974941LIG4c.2349A>C (p.Ala783=)
c.2550A>C (p.Ala850=)
c.2586A>C (p.Ala862=)
c.2562A>C (p.Ala854=)
13g.108208720G>ACA7043473LIG4c.2348C>T (p.Ala783Val)
c.2549C>T (p.Ala850Val)
c.2585C>T (p.Ala862Val)
c.2561C>T (p.Ala854Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208720G>CCA388612540LIG4c.2348C>G (p.Ala783Gly)
c.2549C>G (p.Ala850Gly)
c.2585C>G (p.Ala862Gly)
c.2561C>G (p.Ala854Gly)
13g.108208720G=CA2117793879LIG4c.2348C= (p.Ala783=)
c.2549C= (p.Ala850=)
c.2585C= (p.Ala862=)
c.2561C= (p.Ala854=)
13g.108208720G>TCA388612541LIG4c.2348C>A (p.Ala783Glu)
c.2549C>A (p.Ala850Glu)
c.2585C>A (p.Ala862Glu)
c.2561C>A (p.Ala854Glu)
13g.108208721C>ACA388612544LIG4c.2347G>T (p.Ala783Ser)
c.2548G>T (p.Ala850Ser)
c.2584G>T (p.Ala862Ser)
c.2560G>T (p.Ala854Ser)
13g.108208721C>GCA388612547LIG4c.2347G>C (p.Ala783Pro)
c.2548G>C (p.Ala850Pro)
c.2584G>C (p.Ala862Pro)
c.2560G>C (p.Ala854Pro)
13g.108208721C>TCA388612549LIG4c.2347G>A (p.Ala783Thr)
c.2548G>A (p.Ala850Thr)
c.2584G>A (p.Ala862Thr)
c.2560G>A (p.Ala854Thr)
 gnomAD v4
13g.108208722T>ACA484974943LIG4c.2346A>T (p.Gly782=)
c.2547A>T (p.Gly849=)
c.2583A>T (p.Gly861=)
c.2559A>T (p.Gly853=)
13g.108208722T>CCA484974944LIG4c.2346A>G (p.Gly782=)
c.2547A>G (p.Gly849=)
c.2583A>G (p.Gly861=)
c.2559A>G (p.Gly853=)
13g.108208722T>GCA484974945LIG4c.2346A>C (p.Gly782=)
c.2547A>C (p.Gly849=)
c.2583A>C (p.Gly861=)
c.2559A>C (p.Gly853=)
13g.108208723C>ACA388612551LIG4c.2345G>T (p.Gly782Val)
c.2546G>T (p.Gly849Val)
c.2582G>T (p.Gly861Val)
c.2558G>T (p.Gly853Val)
13g.108208723C=CA2117793880LIG4c.2345G= (p.Gly782=)
c.2546G= (p.Gly849=)
c.2582G= (p.Gly861=)
c.2558G= (p.Gly853=)
13g.108208723C>GCA388612556LIG4c.2345G>C (p.Gly782Ala)
c.2546G>C (p.Gly849Ala)
c.2582G>C (p.Gly861Ala)
c.2558G>C (p.Gly853Ala)
13g.108208723C>TCA7043474LIG4c.2345G>A (p.Gly782Glu)
c.2546G>A (p.Gly849Glu)
c.2582G>A (p.Gly861Glu)
c.2558G>A (p.Gly853Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208724C>ACA388612558LIG4c.2344G>T (p.Gly782Ter)
c.2545G>T (p.Gly849Ter)
c.2581G>T (p.Gly861Ter)
c.2557G>T (p.Gly853Ter)
13g.108208724C=CA2117793881LIG4c.2344G= (p.Gly782=)
c.2545G= (p.Gly849=)
c.2581G= (p.Gly861=)
c.2557G= (p.Gly853=)
13g.108208724C>GCA388612561LIG4c.2344G>C (p.Gly782Arg)
c.2545G>C (p.Gly849Arg)
c.2581G>C (p.Gly861Arg)
c.2557G>C (p.Gly853Arg)
13g.108208724C>TCA388612567LIG4c.2344G>A (p.Gly782Arg)
c.2545G>A (p.Gly849Arg)
c.2581G>A (p.Gly861Arg)
c.2557G>A (p.Gly853Arg)
 ClinVar dbSNP gnomAD v4
13g.108208725A=CA2117793882LIG4c.2343T= (p.His781=)
c.2544T= (p.His848=)
c.2580T= (p.His860=)
c.2556T= (p.His852=)
13g.108208725A>CCA388612568LIG4c.2343T>G (p.His781Gln)
c.2544T>G (p.His848Gln)
c.2580T>G (p.His860Gln)
c.2556T>G (p.His852Gln)
13g.108208725A>GCA484974947LIG4c.2343T>C (p.His781=)
c.2544T>C (p.His848=)
c.2580T>C (p.His860=)
c.2556T>C (p.His852=)
 dbSNP
13g.108208725A>TCA388612569LIG4c.2343T>A (p.His781Gln)
c.2544T>A (p.His848Gln)
c.2580T>A (p.His860Gln)
c.2556T>A (p.His852Gln)
13g.108208726T>ACA388612570LIG4c.2342A>T (p.His781Leu)
c.2543A>T (p.His848Leu)
c.2579A>T (p.His860Leu)
c.2555A>T (p.His852Leu)
13g.108208726T>CCA388612571LIG4c.2342A>G (p.His781Arg)
c.2543A>G (p.His848Arg)
c.2579A>G (p.His860Arg)
c.2555A>G (p.His852Arg)
 ClinVar dbSNP gnomAD v4
13g.108208726T>GCA388612573LIG4c.2342A>C (p.His781Pro)
c.2543A>C (p.His848Pro)
c.2579A>C (p.His860Pro)
c.2555A>C (p.His852Pro)
13g.108208726T=CA2117793883LIG4c.2342A= (p.His781=)
c.2543A= (p.His848=)
c.2579A= (p.His860=)
c.2555A= (p.His852=)
13g.108208727G>ACA388612584LIG4c.2341C>T (p.His781Tyr)
c.2542C>T (p.His848Tyr)
c.2578C>T (p.His860Tyr)
c.2554C>T (p.His852Tyr)
13g.108208727G>CCA388612590LIG4c.2341C>G (p.His781Asp)
c.2542C>G (p.His848Asp)
c.2578C>G (p.His860Asp)
c.2554C>G (p.His852Asp)
13g.108208727G>TCA388612593LIG4c.2341C>A (p.His781Asn)
c.2542C>A (p.His848Asn)
c.2578C>A (p.His860Asn)
c.2554C>A (p.His852Asn)
 COSMIC
13g.108208728A=CA2117793884LIG4c.2340T= (p.Phe780=)
c.2541T= (p.Phe847=)
c.2577T= (p.Phe859=)
c.2553T= (p.Phe851=)
13g.108208728A>CCA388612598LIG4c.2340T>G (p.Phe780Leu)
c.2541T>G (p.Phe847Leu)
c.2577T>G (p.Phe859Leu)
c.2553T>G (p.Phe851Leu)
 dbSNP
13g.108208728A>GCA484974949LIG4c.2340T>C (p.Phe780=)
c.2541T>C (p.Phe847=)
c.2577T>C (p.Phe859=)
c.2553T>C (p.Phe851=)
 ClinVar gnomAD v4
13g.108208728A>TCA388612604LIG4c.2340T>A (p.Phe780Leu)
c.2541T>A (p.Phe847Leu)
c.2577T>A (p.Phe859Leu)
c.2553T>A (p.Phe851Leu)
13g.108208729A>CCA388612607LIG4c.2339T>G (p.Phe780Cys)
c.2540T>G (p.Phe847Cys)
c.2576T>G (p.Phe859Cys)
c.2552T>G (p.Phe851Cys)
13g.108208729A>GCA388612614LIG4c.2339T>C (p.Phe780Ser)
c.2540T>C (p.Phe847Ser)
c.2576T>C (p.Phe859Ser)
c.2552T>C (p.Phe851Ser)
13g.108208729A>TCA388612610LIG4c.2339T>A (p.Phe780Tyr)
c.2540T>A (p.Phe847Tyr)
c.2576T>A (p.Phe859Tyr)
c.2552T>A (p.Phe851Tyr)
13g.108208730A>CCA388612616LIG4c.2338T>G (p.Phe780Val)
c.2539T>G (p.Phe847Val)
c.2575T>G (p.Phe859Val)
c.2551T>G (p.Phe851Val)
13g.108208730A>GCA388612619LIG4c.2338T>C (p.Phe780Leu)
c.2539T>C (p.Phe847Leu)
c.2575T>C (p.Phe859Leu)
c.2551T>C (p.Phe851Leu)
13g.108208730A>TCA388612618LIG4c.2338T>A (p.Phe780Ile)
c.2539T>A (p.Phe847Ile)
c.2575T>A (p.Phe859Ile)
c.2551T>A (p.Phe851Ile)
13g.108208731C>ACA484974951LIG4c.2337G>T (p.Arg779=)
c.2538G>T (p.Arg846=)
c.2574G>T (p.Arg858=)
c.2550G>T (p.Arg850=)
13g.108208731C>GCA484974952LIG4c.2337G>C (p.Arg779=)
c.2538G>C (p.Arg846=)
c.2574G>C (p.Arg858=)
c.2550G>C (p.Arg850=)
13g.108208731C>TCA484974953LIG4c.2337G>A (p.Arg779=)
c.2538G>A (p.Arg846=)
c.2574G>A (p.Arg858=)
c.2550G>A (p.Arg850=)
13g.108208732C>ACA388612620LIG4c.2336G>T (p.Arg779Leu)
c.2537G>T (p.Arg846Leu)
c.2573G>T (p.Arg858Leu)
c.2549G>T (p.Arg850Leu)
13g.108208732C=CA2117793885LIG4c.2336G= (p.Arg779=)
c.2537G= (p.Arg846=)
c.2573G= (p.Arg858=)
c.2549G= (p.Arg850=)
13g.108208732C>GCA388612621LIG4c.2336G>C (p.Arg779Pro)
c.2537G>C (p.Arg846Pro)
c.2573G>C (p.Arg858Pro)
c.2549G>C (p.Arg850Pro)
 dbSNP gnomAD v2 gnomAD v4
13g.108208732C>TCA256179039LIG4c.2336G>A (p.Arg779Gln)
c.2537G>A (p.Arg846Gln)
c.2573G>A (p.Arg858Gln)
c.2549G>A (p.Arg850Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208733G>ACA7043475LIG4c.2335C>T (p.Arg779Trp)
c.2536C>T (p.Arg846Trp)
c.2572C>T (p.Arg858Trp)
c.2548C>T (p.Arg850Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108208733G>CCA388612624LIG4c.2335C>G (p.Arg779Gly)
c.2536C>G (p.Arg846Gly)
c.2572C>G (p.Arg858Gly)
c.2548C>G (p.Arg850Gly)
13g.108208733G=CA2117793886LIG4c.2335C= (p.Arg779=)
c.2536C= (p.Arg846=)
c.2572C= (p.Arg858=)
c.2548C= (p.Arg850=)
13g.108208733G>TCA484974954LIG4c.2335C>A (p.Arg779=)
c.2536C>A (p.Arg846=)
c.2572C>A (p.Arg858=)
c.2548C>A (p.Arg850=)
13g.108208734A>CCA484974956LIG4c.2334T>G (p.Leu778=)
c.2535T>G (p.Leu845=)
c.2571T>G (p.Leu857=)
c.2547T>G (p.Leu849=)
13g.108208734A>GCA484974958LIG4c.2334T>C (p.Leu778=)
c.2535T>C (p.Leu845=)
c.2571T>C (p.Leu857=)
c.2547T>C (p.Leu849=)
13g.108208734A>TCA484974959LIG4c.2334T>A (p.Leu778=)
c.2535T>A (p.Leu845=)
c.2571T>A (p.Leu857=)
c.2547T>A (p.Leu849=)
13g.108208735A=CA2117793887LIG4c.2333T= (p.Leu778=)
c.2534T= (p.Leu845=)
c.2570T= (p.Leu857=)
c.2546T= (p.Leu849=)
13g.108208735A>CCA388612626LIG4c.2333T>G (p.Leu778Arg)
c.2534T>G (p.Leu845Arg)
c.2570T>G (p.Leu857Arg)
c.2546T>G (p.Leu849Arg)
13g.108208735A>GCA388612629LIG4c.2333T>C (p.Leu778Pro)
c.2534T>C (p.Leu845Pro)
c.2570T>C (p.Leu857Pro)
c.2546T>C (p.Leu849Pro)
 dbSNP gnomAD v2
13g.108208735A>TCA388612642LIG4c.2333T>A (p.Leu778His)
c.2534T>A (p.Leu845His)
c.2570T>A (p.Leu857His)
c.2546T>A (p.Leu849His)
13g.108208736G>ACA388612643LIG4c.2332C>T (p.Leu778Phe)
c.2533C>T (p.Leu845Phe)
c.2569C>T (p.Leu857Phe)
c.2545C>T (p.Leu849Phe)
13g.108208736G>CCA388612644LIG4c.2332C>G (p.Leu778Val)
c.2533C>G (p.Leu845Val)
c.2569C>G (p.Leu857Val)
c.2545C>G (p.Leu849Val)
13g.108208736G>TCA388612645LIG4c.2332C>A (p.Leu778Ile)
c.2533C>A (p.Leu845Ile)
c.2569C>A (p.Leu857Ile)
c.2545C>A (p.Leu849Ile)
13g.108208737C>ACA388612650LIG4c.2331G>T (p.Glu777Asp)
c.2532G>T (p.Glu844Asp)
c.2568G>T (p.Glu856Asp)
c.2544G>T (p.Glu848Asp)
13g.108208737C>GCA388612648LIG4c.2331G>C (p.Glu777Asp)
c.2532G>C (p.Glu844Asp)
c.2568G>C (p.Glu856Asp)
c.2544G>C (p.Glu848Asp)
13g.108208737C>TCA484974961LIG4c.2331G>A (p.Glu777=)
c.2532G>A (p.Glu844=)
c.2568G>A (p.Glu856=)
c.2544G>A (p.Glu848=)
 gnomAD v4
13g.108208738T>ACA388612653LIG4c.2330A>T (p.Glu777Val)
c.2531A>T (p.Glu844Val)
c.2567A>T (p.Glu856Val)
c.2543A>T (p.Glu848Val)
13g.108208738T>CCA388612655LIG4c.2330A>G (p.Glu777Gly)
c.2531A>G (p.Glu844Gly)
c.2567A>G (p.Glu856Gly)
c.2543A>G (p.Glu848Gly)
13g.108208738T>GCA388612657LIG4c.2330A>C (p.Glu777Ala)
c.2531A>C (p.Glu844Ala)
c.2567A>C (p.Glu856Ala)
c.2543A>C (p.Glu848Ala)
13g.108208739C>ACA388612660LIG4c.2329G>T (p.Glu777Ter)
c.2530G>T (p.Glu844Ter)
c.2566G>T (p.Glu856Ter)
c.2542G>T (p.Glu848Ter)
13g.108208739C>GCA388612664LIG4c.2329G>C (p.Glu777Gln)
c.2530G>C (p.Glu844Gln)
c.2566G>C (p.Glu856Gln)
c.2542G>C (p.Glu848Gln)
13g.108208739C>TCA388612666LIG4c.2329G>A (p.Glu777Lys)
c.2530G>A (p.Glu844Lys)
c.2566G>A (p.Glu856Lys)
c.2542G>A (p.Glu848Lys)
13g.108208740C>ACA388612667LIG4c.2328G>T (p.Leu776Phe)
c.2529G>T (p.Leu843Phe)
c.2565G>T (p.Leu855Phe)
c.2541G>T (p.Leu847Phe)
13g.108208740C>GCA388612668LIG4c.2328G>C (p.Leu776Phe)
c.2529G>C (p.Leu843Phe)
c.2565G>C (p.Leu855Phe)
c.2541G>C (p.Leu847Phe)
13g.108208740C>TCA484974963LIG4c.2328G>A (p.Leu776=)
c.2529G>A (p.Leu843=)
c.2565G>A (p.Leu855=)
c.2541G>A (p.Leu847=)
 ClinVar gnomAD v4
13g.108208741A>CCA388612671LIG4c.2327T>G (p.Leu776Trp)
c.2528T>G (p.Leu843Trp)
c.2564T>G (p.Leu855Trp)
c.2540T>G (p.Leu847Trp)
13g.108208741A>GCA388612676LIG4c.2327T>C (p.Leu776Ser)
c.2528T>C (p.Leu843Ser)
c.2564T>C (p.Leu855Ser)
c.2540T>C (p.Leu847Ser)
13g.108208741A>TCA388612678LIG4c.2327T>A (p.Leu776Ter)
c.2528T>A (p.Leu843Ter)
c.2564T>A (p.Leu855Ter)
c.2540T>A (p.Leu847Ter)
13g.108208742A=CA2117793888LIG4c.2326T= (p.Leu776=)
c.2527T= (p.Leu843=)
c.2563T= (p.Leu855=)
c.2539T= (p.Leu847=)
13g.108208742A>CCA388612680LIG4c.2326T>G (p.Leu776Val)
c.2527T>G (p.Leu843Val)
c.2563T>G (p.Leu855Val)
c.2539T>G (p.Leu847Val)
13g.108208742A>GCA7043476LIG4c.2326T>C (p.Leu776=)
c.2527T>C (p.Leu843=)
c.2563T>C (p.Leu855=)
c.2539T>C (p.Leu847=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208742A>TCA388612679LIG4c.2326T>A (p.Leu776Met)
c.2527T>A (p.Leu843Met)
c.2563T>A (p.Leu855Met)
c.2539T>A (p.Leu847Met)
13g.108208743G>ACA484974964LIG4c.2325C>T (p.Ala775=)
c.2526C>T (p.Ala842=)
c.2562C>T (p.Ala854=)
c.2538C>T (p.Ala846=)
13g.108208743G>CCA484974965LIG4c.2325C>G (p.Ala775=)
c.2526C>G (p.Ala842=)
c.2562C>G (p.Ala854=)
c.2538C>G (p.Ala846=)
13g.108208743G>TCA484974966LIG4c.2325C>A (p.Ala775=)
c.2526C>A (p.Ala842=)
c.2562C>A (p.Ala854=)
c.2538C>A (p.Ala846=)
13g.108208744G>ACA388612681LIG4c.2324C>T (p.Ala775Val)
c.2525C>T (p.Ala842Val)
c.2561C>T (p.Ala854Val)
c.2537C>T (p.Ala846Val)
13g.108208744G>CCA388612682LIG4c.2324C>G (p.Ala775Gly)
c.2525C>G (p.Ala842Gly)
c.2561C>G (p.Ala854Gly)
c.2537C>G (p.Ala846Gly)
 dbSNP gnomAD v2 gnomAD v4
13g.108208744G=CA2117793889LIG4c.2324C= (p.Ala775=)
c.2525C= (p.Ala842=)
c.2561C= (p.Ala854=)
c.2537C= (p.Ala846=)
13g.108208744G>TCA7043477LIG4c.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

Number of alleles fetched