Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108208655C>A | CA388610605 | LIG4 | c.2413G>T (p.Val805Phe) c.2614G>T (p.Val872Phe) c.2650G>T (p.Val884Phe) c.2626G>T (p.Val876Phe) | |
13 | g.108208655C= | CA2117793853 | LIG4 | c.2413G= (p.Val805=) c.2614G= (p.Val872=) c.2650G= (p.Val884=) c.2626G= (p.Val876=) | |
13 | g.108208655C>G | CA388610607 | LIG4 | c.2413G>C (p.Val805Leu) c.2614G>C (p.Val872Leu) c.2650G>C (p.Val884Leu) c.2626G>C (p.Val876Leu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208655C>T | CA388610609 | LIG4 | c.2413G>A (p.Val805Ile) c.2614G>A (p.Val872Ile) c.2650G>A (p.Val884Ile) c.2626G>A (p.Val876Ile) | |
13 | g.108208656A= | CA2117793854 | LIG4 | c.2412T= (p.Arg804=) c.2613T= (p.Arg871=) c.2649T= (p.Arg883=) c.2625T= (p.Arg875=) | |
13 | g.108208656A>C | CA484781535 | LIG4 | c.2412T>G (p.Arg804=) c.2613T>G (p.Arg871=) c.2649T>G (p.Arg883=) c.2625T>G (p.Arg875=) | gnomAD v4 |
13 | g.108208656A>G | CA7043460 | LIG4 | c.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 |
13 | g.108208656A>T | CA484781536 | LIG4 | c.2412T>A (p.Arg804=) c.2613T>A (p.Arg871=) c.2649T>A (p.Arg883=) c.2625T>A (p.Arg875=) | |
13 | g.108208657C>A | CA388610611 | LIG4 | c.2411G>T (p.Arg804Leu) c.2612G>T (p.Arg871Leu) c.2648G>T (p.Arg883Leu) c.2624G>T (p.Arg875Leu) | |
13 | g.108208657C= | CA2117793855 | LIG4 | c.2411G= (p.Arg804=) c.2612G= (p.Arg871=) c.2648G= (p.Arg883=) c.2624G= (p.Arg875=) | |
13 | g.108208657C>G | CA388610612 | LIG4 | c.2411G>C (p.Arg804Pro) c.2612G>C (p.Arg871Pro) c.2648G>C (p.Arg883Pro) c.2624G>C (p.Arg875Pro) | |
13 | g.108208657C>T | CA7043461 | LIG4 | c.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 |
13 | g.108208658G>A | CA388610615 | LIG4 | c.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 |
13 | g.108208658G>C | CA388610617 | LIG4 | c.2410C>G (p.Arg804Gly) c.2611C>G (p.Arg871Gly) c.2647C>G (p.Arg883Gly) c.2623C>G (p.Arg875Gly) | |
13 | g.108208658G= | CA2117793856 | LIG4 | c.2410C= (p.Arg804=) c.2611C= (p.Arg871=) c.2647C= (p.Arg883=) c.2623C= (p.Arg875=) | |
13 | g.108208658G>T | CA388610618 | LIG4 | c.2410C>A (p.Arg804Ser) c.2611C>A (p.Arg871Ser) c.2647C>A (p.Arg883Ser) c.2623C>A (p.Arg875Ser) | |
13 | g.108208659A= | CA2117793857 | LIG4 | c.2409T= (p.Ser803=) c.2610T= (p.Ser870=) c.2646T= (p.Ser882=) c.2622T= (p.Ser874=) | |
13 | g.108208659A>C | CA388610619 | LIG4 | c.2409T>G (p.Ser803Arg) c.2610T>G (p.Ser870Arg) c.2646T>G (p.Ser882Arg) c.2622T>G (p.Ser874Arg) | |
13 | g.108208659A>G | CA7043462 | LIG4 | c.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 |
13 | g.108208659A>T | CA388610620 | LIG4 | c.2409T>A (p.Ser803Arg) c.2610T>A (p.Ser870Arg) c.2646T>A (p.Ser882Arg) c.2622T>A (p.Ser874Arg) | |
13 | g.108208660C>A | CA388610622 | LIG4 | c.2408G>T (p.Ser803Ile) c.2609G>T (p.Ser870Ile) c.2645G>T (p.Ser882Ile) c.2621G>T (p.Ser874Ile) | |
13 | g.108208660C>G | CA388610625 | LIG4 | c.2408G>C (p.Ser803Thr) c.2609G>C (p.Ser870Thr) c.2645G>C (p.Ser882Thr) c.2621G>C (p.Ser874Thr) | |
13 | g.108208660C>T | CA388610624 | LIG4 | c.2408G>A (p.Ser803Asn) c.2609G>A (p.Ser870Asn) c.2645G>A (p.Ser882Asn) c.2621G>A (p.Ser874Asn) | ClinVar |
13 | g.108208661T>A | CA388610627 | LIG4 | c.2407A>T (p.Ser803Cys) c.2608A>T (p.Ser870Cys) c.2644A>T (p.Ser882Cys) c.2620A>T (p.Ser874Cys) | |
13 | g.108208661T>C | CA388610629 | LIG4 | c.2407A>G (p.Ser803Gly) c.2608A>G (p.Ser870Gly) c.2644A>G (p.Ser882Gly) c.2620A>G (p.Ser874Gly) | COSMIC |
13 | g.108208661T>G | CA388610630 | LIG4 | c.2407A>C (p.Ser803Arg) c.2608A>C (p.Ser870Arg) c.2644A>C (p.Ser882Arg) c.2620A>C (p.Ser874Arg) | |
13 | g.108208662A>C | CA388610632 | LIG4 | c.2406T>G (p.His802Gln) c.2607T>G (p.His869Gln) c.2643T>G (p.His881Gln) c.2619T>G (p.His873Gln) | |
13 | g.108208662A>G | CA484781537 | LIG4 | c.2406T>C (p.His802=) c.2607T>C (p.His869=) c.2643T>C (p.His881=) c.2619T>C (p.His873=) | gnomAD v4 |
13 | g.108208662A>T | CA388610635 | LIG4 | c.2406T>A (p.His802Gln) c.2607T>A (p.His869Gln) c.2643T>A (p.His881Gln) c.2619T>A (p.His873Gln) | |
13 | g.108208663T>A | CA388610636 | LIG4 | c.2405A>T (p.His802Leu) c.2606A>T (p.His869Leu) c.2642A>T (p.His881Leu) c.2618A>T (p.His873Leu) | dbSNP |
13 | g.108208663T>C | CA388610637 | LIG4 | c.2405A>G (p.His802Arg) c.2606A>G (p.His869Arg) c.2642A>G (p.His881Arg) c.2618A>G (p.His873Arg) | |
13 | g.108208663T>G | CA388610638 | LIG4 | c.2405A>C (p.His802Pro) c.2606A>C (p.His869Pro) c.2642A>C (p.His881Pro) c.2618A>C (p.His873Pro) | gnomAD v4 |
13 | g.108208663T= | CA2117793858 | LIG4 | c.2405A= (p.His802=) c.2606A= (p.His869=) c.2642A= (p.His881=) c.2618A= (p.His873=) | |
13 | g.108208664G>A | CA388610639 | LIG4 | c.2404C>T (p.His802Tyr) c.2605C>T (p.His869Tyr) c.2641C>T (p.His881Tyr) c.2617C>T (p.His873Tyr) | |
13 | g.108208664G>C | CA388610640 | LIG4 | c.2404C>G (p.His802Asp) c.2605C>G (p.His869Asp) c.2641C>G (p.His881Asp) c.2617C>G (p.His873Asp) | |
13 | g.108208664G>T | CA388610641 | LIG4 | c.2404C>A (p.His802Asn) c.2605C>A (p.His869Asn) c.2641C>A (p.His881Asn) c.2617C>A (p.His873Asn) | |
13 | g.108208665A>C | CA388610642 | LIG4 | c.2403T>G (p.Asp801Glu) c.2604T>G (p.Asp868Glu) c.2640T>G (p.Asp880Glu) c.2616T>G (p.Asp872Glu) | |
13 | g.108208665A>G | CA484781538 | LIG4 | c.2403T>C (p.Asp801=) c.2604T>C (p.Asp868=) c.2640T>C (p.Asp880=) c.2616T>C (p.Asp872=) | |
13 | g.108208665A>T | CA388610643 | LIG4 | c.2403T>A (p.Asp801Glu) c.2604T>A (p.Asp868Glu) c.2640T>A (p.Asp880Glu) c.2616T>A (p.Asp872Glu) | |
13 | g.108208666T>A | CA388610646 | LIG4 | c.2402A>T (p.Asp801Val) c.2603A>T (p.Asp868Val) c.2639A>T (p.Asp880Val) c.2615A>T (p.Asp872Val) | |
13 | g.108208666T>C | CA7043463 | LIG4 | c.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 |
13 | g.108208666T>G | CA388610645 | LIG4 | c.2402A>C (p.Asp801Ala) c.2603A>C (p.Asp868Ala) c.2639A>C (p.Asp880Ala) c.2615A>C (p.Asp872Ala) | |
13 | g.108208666T= | CA2117793859 | LIG4 | c.2402A= (p.Asp801=) c.2603A= (p.Asp868=) c.2639A= (p.Asp880=) c.2615A= (p.Asp872=) | |
13 | g.108208667C>A | CA388610649 | LIG4 | c.2401G>T (p.Asp801Tyr) c.2602G>T (p.Asp868Tyr) c.2638G>T (p.Asp880Tyr) c.2614G>T (p.Asp872Tyr) | COSMIC |
13 | g.108208667C>G | CA388610650 | LIG4 | c.2401G>C (p.Asp801His) c.2602G>C (p.Asp868His) c.2638G>C (p.Asp880His) c.2614G>C (p.Asp872His) | |
13 | g.108208667C>T | CA388610652 | LIG4 | c.2401G>A (p.Asp801Asn) c.2602G>A (p.Asp868Asn) c.2638G>A (p.Asp880Asn) c.2614G>A (p.Asp872Asn) | COSMIC |
13 | g.108208668T>A | CA388610653 | LIG4 | c.2400A>T (p.Glu800Asp) c.2601A>T (p.Glu867Asp) c.2637A>T (p.Glu879Asp) c.2613A>T (p.Glu871Asp) | |
13 | g.108208668T>C | CA484781539 | LIG4 | c.2400A>G (p.Glu800=) c.2601A>G (p.Glu867=) c.2637A>G (p.Glu879=) c.2613A>G (p.Glu871=) | |
13 | g.108208668T>G | CA388610655 | LIG4 | c.2400A>C (p.Glu800Asp) c.2601A>C (p.Glu867Asp) c.2637A>C (p.Glu879Asp) c.2613A>C (p.Glu871Asp) | |
13 | g.108208669T>A | CA388610656 | LIG4 | c.2399A>T (p.Glu800Val) c.2600A>T (p.Glu867Val) c.2636A>T (p.Glu879Val) c.2612A>T (p.Glu871Val) | |
13 | g.108208669T>C | CA388610658 | LIG4 | c.2399A>G (p.Glu800Gly) c.2600A>G (p.Glu867Gly) c.2636A>G (p.Glu879Gly) c.2612A>G (p.Glu871Gly) | |
13 | g.108208669T>G | CA388610660 | LIG4 | c.2399A>C (p.Glu800Ala) c.2600A>C (p.Glu867Ala) c.2636A>C (p.Glu879Ala) c.2612A>C (p.Glu871Ala) | |
13 | g.108208670C>A | CA388610662 | LIG4 | c.2398G>T (p.Glu800Ter) c.2599G>T (p.Glu867Ter) c.2635G>T (p.Glu879Ter) c.2611G>T (p.Glu871Ter) | |
13 | g.108208670C= | CA2117793860 | LIG4 | c.2398G= (p.Glu800=) c.2599G= (p.Glu867=) c.2635G= (p.Glu879=) c.2611G= (p.Glu871=) | |
13 | g.108208670C>G | CA388610663 | LIG4 | c.2398G>C (p.Glu800Gln) c.2599G>C (p.Glu867Gln) c.2635G>C (p.Glu879Gln) c.2611G>C (p.Glu871Gln) | |
13 | g.108208670C>T | CA388610665 | LIG4 | c.2398G>A (p.Glu800Lys) c.2599G>A (p.Glu867Lys) c.2635G>A (p.Glu879Lys) c.2611G>A (p.Glu871Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208671C>A | CA484781540 | LIG4 | c.2397G>T (p.Gly799=) c.2598G>T (p.Gly866=) c.2634G>T (p.Gly878=) c.2610G>T (p.Gly870=) | dbSNP |
13 | g.108208671C>G | CA484781541 | LIG4 | c.2397G>C (p.Gly799=) c.2598G>C (p.Gly866=) c.2634G>C (p.Gly878=) c.2610G>C (p.Gly870=) | |
13 | g.108208671C>T | CA484781542 | LIG4 | c.2397G>A (p.Gly799=) c.2598G>A (p.Gly866=) c.2634G>A (p.Gly878=) c.2610G>A (p.Gly870=) | |
13 | g.108208671_108208680dup | CA2575452309 | LIG4 | c.2388_2397dup (p.Glu800AsnfsTer7) c.2589_2598dup (p.Glu867AsnfsTer7) c.2625_2634dup (p.Glu879AsnfsTer7) c.2601_2610dup (p.Glu871AsnfsTer7) | gnomAD v4 |
13 | g.108208672C>A | CA388610670 | LIG4 | c.2396G>T (p.Gly799Val) c.2597G>T (p.Gly866Val) c.2633G>T (p.Gly878Val) c.2609G>T (p.Gly870Val) | |
13 | g.108208672C= | CA2117793861 | LIG4 | c.2396G= (p.Gly799=) c.2597G= (p.Gly866=) c.2633G= (p.Gly878=) c.2609G= (p.Gly870=) | |
13 | g.108208672C>G | CA388610669 | LIG4 | c.2396G>C (p.Gly799Ala) c.2597G>C (p.Gly866Ala) c.2633G>C (p.Gly878Ala) c.2609G>C (p.Gly870Ala) | dbSNP |
13 | g.108208672C>T | CA388610668 | LIG4 | c.2396G>A (p.Gly799Glu) c.2597G>A (p.Gly866Glu) c.2633G>A (p.Gly878Glu) c.2609G>A (p.Gly870Glu) | |
13 | g.108208673C>A | CA388610671 | LIG4 | c.2395G>T (p.Gly799Trp) c.2596G>T (p.Gly866Trp) c.2632G>T (p.Gly878Trp) c.2608G>T (p.Gly870Trp) | |
13 | g.108208673C= | CA2117793862 | LIG4 | c.2395G= (p.Gly799=) c.2596G= (p.Gly866=) c.2632G= (p.Gly878=) c.2608G= (p.Gly870=) | |
13 | g.108208673C>G | CA388610673 | LIG4 | c.2395G>C (p.Gly799Arg) c.2596G>C (p.Gly866Arg) c.2632G>C (p.Gly878Arg) c.2608G>C (p.Gly870Arg) | |
13 | g.108208673C>T | CA388610672 | LIG4 | c.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 |
13 | g.108208673_108208674delinsCA | CA2117793864 | LIG4 | c.2394_2395delinsTG (p.Ile798=) c.2595_2596delinsTG (p.Ile865=) c.2631_2632delinsTG (p.Ile877=) c.2607_2608delinsTG (p.Ile869=) | |
13 | g.108208673_108208677delinsCAATT | CA2117793863 | LIG4 | c.2391_2395delinsAATTG (p.Ile797=) c.2592_2596delinsAATTG (p.Ile864=) c.2628_2632delinsAATTG (p.Ile876=) c.2604_2608delinsAATTG (p.Ile868=) | |
13 | g.108208674A= | CA2117793865 | LIG4 | c.2394T= (p.Ile798=) c.2595T= (p.Ile865=) c.2631T= (p.Ile877=) c.2607T= (p.Ile869=) | |
13 | g.108208674A>C | CA388610675 | LIG4 | c.2394T>G (p.Ile798Met) c.2595T>G (p.Ile865Met) c.2631T>G (p.Ile877Met) c.2607T>G (p.Ile869Met) | |
13 | g.108208674A>G | CA484781543 | LIG4 | c.2394T>C (p.Ile798=) c.2595T>C (p.Ile865=) c.2631T>C (p.Ile877=) c.2607T>C (p.Ile869=) | |
13 | g.108208674A>T | CA7043466 | LIG4 | c.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 |
13 | g.108208675del | CA7043464 | LIG4 | c.2394del (p.Ile798MetfsTer25) c.2595del (p.Ile865MetfsTer25) c.2631del (p.Ile877MetfsTer25) c.2607del (p.Ile869MetfsTer25) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208675_108208678del | CA7043465 | LIG4 | c.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 |
13 | g.108208675A>C | CA388610683 | LIG4 | c.2393T>G (p.Ile798Ser) c.2594T>G (p.Ile865Ser) c.2630T>G (p.Ile877Ser) c.2606T>G (p.Ile869Ser) | |
13 | g.108208675A>G | CA388610679 | LIG4 | c.2393T>C (p.Ile798Thr) c.2594T>C (p.Ile865Thr) c.2630T>C (p.Ile877Thr) c.2606T>C (p.Ile869Thr) | |
13 | g.108208675A>T | CA388610682 | LIG4 | c.2393T>A (p.Ile798Asn) c.2594T>A (p.Ile865Asn) c.2630T>A (p.Ile877Asn) c.2606T>A (p.Ile869Asn) | |
13 | g.108208676T>A | CA388610684 | LIG4 | c.2392A>T (p.Ile798Phe) c.2593A>T (p.Ile865Phe) c.2629A>T (p.Ile877Phe) c.2605A>T (p.Ile869Phe) | |
13 | g.108208676T>C | CA388610685 | LIG4 | c.2392A>G (p.Ile798Val) c.2593A>G (p.Ile865Val) c.2629A>G (p.Ile877Val) c.2605A>G (p.Ile869Val) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208676T>G | CA388610686 | LIG4 | c.2392A>C (p.Ile798Leu) c.2593A>C (p.Ile865Leu) c.2629A>C (p.Ile877Leu) c.2605A>C (p.Ile869Leu) | |
13 | g.108208676T= | CA2117793866 | LIG4 | c.2392A= (p.Ile798=) c.2593A= (p.Ile865=) c.2629A= (p.Ile877=) c.2605A= (p.Ile869=) | |
13 | g.108208677T>A | CA484781544 | LIG4 | c.2391A>T (p.Ile797=) c.2592A>T (p.Ile864=) c.2628A>T (p.Ile876=) c.2604A>T (p.Ile868=) | |
13 | g.108208677T>C | CA388610687 | LIG4 | c.2391A>G (p.Ile797Met) c.2592A>G (p.Ile864Met) c.2628A>G (p.Ile876Met) c.2604A>G (p.Ile868Met) | ClinVar dbSNP gnomAD v4 |
13 | g.108208677T>G | CA484781545 | LIG4 | c.2391A>C (p.Ile797=) c.2592A>C (p.Ile864=) c.2628A>C (p.Ile876=) c.2604A>C (p.Ile868=) | dbSNP |
13 | g.108208678A>C | CA388610692 | LIG4 | c.2390T>G (p.Ile797Arg) c.2591T>G (p.Ile864Arg) c.2627T>G (p.Ile876Arg) c.2603T>G (p.Ile868Arg) | |
13 | g.108208678A>G | CA388610690 | LIG4 | c.2390T>C (p.Ile797Thr) c.2591T>C (p.Ile864Thr) c.2627T>C (p.Ile876Thr) c.2603T>C (p.Ile868Thr) | |
13 | g.108208678A>T | CA388610689 | LIG4 | c.2390T>A (p.Ile797Lys) c.2591T>A (p.Ile864Lys) c.2627T>A (p.Ile876Lys) c.2603T>A (p.Ile868Lys) | |
13 | g.108208679T>A | CA388610694 | LIG4 | c.2389A>T (p.Ile797Leu) c.2590A>T (p.Ile864Leu) c.2626A>T (p.Ile876Leu) c.2602A>T (p.Ile868Leu) | |
13 | g.108208679T>C | CA388610696 | LIG4 | c.2389A>G (p.Ile797Val) c.2590A>G (p.Ile864Val) c.2626A>G (p.Ile876Val) c.2602A>G (p.Ile868Val) | |
13 | g.108208679T>G | CA388610697 | LIG4 | c.2389A>C (p.Ile797Leu) c.2590A>C (p.Ile864Leu) c.2626A>C (p.Ile876Leu) c.2602A>C (p.Ile868Leu) | |
13 | g.108208680T>A | CA484781546 | LIG4 | c.2388A>T (p.Val796=) c.2589A>T (p.Val863=) c.2625A>T (p.Val875=) c.2601A>T (p.Val867=) | |
13 | g.108208680T>C | CA484781547 | LIG4 | c.2388A>G (p.Val796=) c.2589A>G (p.Val863=) c.2625A>G (p.Val875=) c.2601A>G (p.Val867=) | |
13 | g.108208680T>G | CA484781548 | LIG4 | c.2388A>C (p.Val796=) c.2589A>C (p.Val863=) c.2625A>C (p.Val875=) c.2601A>C (p.Val867=) | |
13 | g.108208681A>C | CA388610699 | LIG4 | c.2387T>G (p.Val796Gly) c.2588T>G (p.Val863Gly) c.2624T>G (p.Val875Gly) c.2600T>G (p.Val867Gly) | |
13 | g.108208681A>G | CA388610701 | LIG4 | c.2387T>C (p.Val796Ala) c.2588T>C (p.Val863Ala) c.2624T>C (p.Val875Ala) c.2600T>C (p.Val867Ala) | |
13 | g.108208681A>T | CA388610702 | LIG4 | c.2387T>A (p.Val796Glu) c.2588T>A (p.Val863Glu) c.2624T>A (p.Val875Glu) c.2600T>A (p.Val867Glu) | |
13 | g.108208682C>A | CA388610704 | LIG4 | c.2386G>T (p.Val796Leu) c.2587G>T (p.Val863Leu) c.2623G>T (p.Val875Leu) c.2599G>T (p.Val867Leu) | |
13 | g.108208682C>G | CA388610707 | LIG4 | c.2386G>C (p.Val796Leu) c.2587G>C (p.Val863Leu) c.2623G>C (p.Val875Leu) c.2599G>C (p.Val867Leu) | |
13 | g.108208682C>T | CA388610706 | LIG4 | c.2386G>A (p.Val796Ile) c.2587G>A (p.Val863Ile) c.2623G>A (p.Val875Ile) c.2599G>A (p.Val867Ile) | |
13 | g.108208682_108208684delinsCAT | CA2117793867 | LIG4 | c.2384_2386delinsATG (p.His795=) c.2585_2587delinsATG (p.His862=) c.2621_2623delinsATG (p.His874=) c.2597_2599delinsATG (p.His866=) | |
13 | g.108208683A= | CA2117793868 | LIG4 | c.2385T= (p.His795=) c.2586T= (p.His862=) c.2622T= (p.His874=) c.2598T= (p.His866=) | |
13 | g.108208683A>C | CA388610708 | LIG4 | c.2385T>G (p.His795Gln) c.2586T>G (p.His862Gln) c.2622T>G (p.His874Gln) c.2598T>G (p.His866Gln) | |
13 | g.108208683A>G | CA484781549 | LIG4 | c.2385T>C (p.His795=) c.2586T>C (p.His862=) c.2622T>C (p.His874=) c.2598T>C (p.His866=) | gnomAD v4 |
13 | g.108208683A>T | CA7043467 | LIG4 | c.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 |
13 | g.108208683_108208684del | CA612360478 | LIG4 | c.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 |
13 | g.108208684T>A | CA388610710 | LIG4 | c.2384A>T (p.His795Leu) c.2585A>T (p.His862Leu) c.2621A>T (p.His874Leu) c.2597A>T (p.His866Leu) | |
13 | g.108208684T>C | CA388610712 | LIG4 | c.2384A>G (p.His795Arg) c.2585A>G (p.His862Arg) c.2621A>G (p.His874Arg) c.2597A>G (p.His866Arg) | gnomAD v4 |
13 | g.108208684T>G | CA388610713 | LIG4 | c.2384A>C (p.His795Pro) c.2585A>C (p.His862Pro) c.2621A>C (p.His874Pro) c.2597A>C (p.His866Pro) | gnomAD v4 |
13 | g.108208685G>A | CA7043468 | LIG4 | c.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 |
13 | g.108208685G>C | CA388610715 | LIG4 | c.2383C>G (p.His795Asp) c.2584C>G (p.His862Asp) c.2620C>G (p.His874Asp) c.2596C>G (p.His866Asp) | gnomAD v4 |
13 | g.108208685G= | CA2117793869 | LIG4 | c.2383C= (p.His795=) c.2584C= (p.His862=) c.2620C= (p.His874=) c.2596C= (p.His866=) | |
13 | g.108208685G>T | CA388610716 | LIG4 | c.2383C>A (p.His795Asn) c.2584C>A (p.His862Asn) c.2620C>A (p.His874Asn) c.2596C>A (p.His866Asn) | |
13 | g.108208686A>C | CA484781550 | LIG4 | c.2382T>G (p.Ser794=) c.2583T>G (p.Ser861=) c.2619T>G (p.Ser873=) c.2595T>G (p.Ser865=) | |
13 | g.108208686A>G | CA484781551 | LIG4 | c.2382T>C (p.Ser794=) c.2583T>C (p.Ser861=) c.2619T>C (p.Ser873=) c.2595T>C (p.Ser865=) | |
13 | g.108208686A>T | CA484781552 | LIG4 | c.2382T>A (p.Ser794=) c.2583T>A (p.Ser861=) c.2619T>A (p.Ser873=) c.2595T>A (p.Ser865=) | |
13 | g.108208687G>A | CA388610717 | LIG4 | c.2381C>T (p.Ser794Phe) c.2582C>T (p.Ser861Phe) c.2618C>T (p.Ser873Phe) c.2594C>T (p.Ser865Phe) | gnomAD v4 |
13 | g.108208687G>C | CA388610718 | LIG4 | c.2381C>G (p.Ser794Cys) c.2582C>G (p.Ser861Cys) c.2618C>G (p.Ser873Cys) c.2594C>G (p.Ser865Cys) | |
13 | g.108208687G>T | CA388610719 | LIG4 | c.2381C>A (p.Ser794Tyr) c.2582C>A (p.Ser861Tyr) c.2618C>A (p.Ser873Tyr) c.2594C>A (p.Ser865Tyr) | |
13 | g.108208688A>C | CA388610720 | LIG4 | c.2380T>G (p.Ser794Ala) c.2581T>G (p.Ser861Ala) c.2617T>G (p.Ser873Ala) c.2593T>G (p.Ser865Ala) | |
13 | g.108208688A>G | CA388610722 | LIG4 | c.2380T>C (p.Ser794Pro) c.2581T>C (p.Ser861Pro) c.2617T>C (p.Ser873Pro) c.2593T>C (p.Ser865Pro) | |
13 | g.108208688A>T | CA388610721 | LIG4 | c.2380T>A (p.Ser794Thr) c.2581T>A (p.Ser861Thr) c.2617T>A (p.Ser873Thr) c.2593T>A (p.Ser865Thr) | |
13 | g.108208689C>A | CA484781554 | LIG4 | c.2379G>T (p.Val793=) c.2580G>T (p.Val860=) c.2616G>T (p.Val872=) c.2592G>T (p.Val864=) | |
13 | g.108208689C>G | CA484781555 | LIG4 | c.2379G>C (p.Val793=) c.2580G>C (p.Val860=) c.2616G>C (p.Val872=) c.2592G>C (p.Val864=) | |
13 | g.108208689C>T | CA484781553 | LIG4 | c.2379G>A (p.Val793=) c.2580G>A (p.Val860=) c.2616G>A (p.Val872=) c.2592G>A (p.Val864=) | ClinVar gnomAD v4 |
13 | g.108208690A>C | CA388610723 | LIG4 | c.2378T>G (p.Val793Gly) c.2579T>G (p.Val860Gly) c.2615T>G (p.Val872Gly) c.2591T>G (p.Val864Gly) | |
13 | g.108208690A>G | CA388610724 | LIG4 | c.2378T>C (p.Val793Ala) c.2579T>C (p.Val860Ala) c.2615T>C (p.Val872Ala) c.2591T>C (p.Val864Ala) | |
13 | g.108208690A>T | CA388610725 | LIG4 | c.2378T>A (p.Val793Glu) c.2579T>A (p.Val860Glu) c.2615T>A (p.Val872Glu) c.2591T>A (p.Val864Glu) | |
13 | g.108208691C>A | CA388610726 | LIG4 | c.2377G>T (p.Val793Leu) c.2578G>T (p.Val860Leu) c.2614G>T (p.Val872Leu) c.2590G>T (p.Val864Leu) | |
13 | g.108208691C= | CA2117793870 | LIG4 | c.2377G= (p.Val793=) c.2578G= (p.Val860=) c.2614G= (p.Val872=) c.2590G= (p.Val864=) | |
13 | g.108208691C>G | CA388610727 | LIG4 | c.2377G>C (p.Val793Leu) c.2578G>C (p.Val860Leu) c.2614G>C (p.Val872Leu) c.2590G>C (p.Val864Leu) | |
13 | g.108208691C>T | CA388610728 | LIG4 | c.2377G>A (p.Val793Met) c.2578G>A (p.Val860Met) c.2614G>A (p.Val872Met) c.2590G>A (p.Val864Met) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208692T>A | CA484781558 | LIG4 | c.2376A>T (p.Gly792=) c.2577A>T (p.Gly859=) c.2613A>T (p.Gly871=) c.2589A>T (p.Gly863=) | gnomAD v4 |
13 | g.108208692T>C | CA484781556 | LIG4 | c.2376A>G (p.Gly792=) c.2577A>G (p.Gly859=) c.2613A>G (p.Gly871=) c.2589A>G (p.Gly863=) | |
13 | g.108208692T>G | CA484781557 | LIG4 | c.2376A>C (p.Gly792=) c.2577A>C (p.Gly859=) c.2613A>C (p.Gly871=) c.2589A>C (p.Gly863=) | |
13 | g.108208693C>A | CA7043469 | LIG4 | c.2375G>T (p.Gly792Val) c.2576G>T (p.Gly859Val) c.2612G>T (p.Gly871Val) c.2588G>T (p.Gly863Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208693C= | CA2117793871 | LIG4 | c.2375G= (p.Gly792=) c.2576G= (p.Gly859=) c.2612G= (p.Gly871=) c.2588G= (p.Gly863=) | |
13 | g.108208693C>G | CA388610729 | LIG4 | c.2375G>C (p.Gly792Ala) c.2576G>C (p.Gly859Ala) c.2612G>C (p.Gly871Ala) c.2588G>C (p.Gly863Ala) | dbSNP |
13 | g.108208693C>T | CA388610730 | LIG4 | c.2375G>A (p.Gly792Glu) c.2576G>A (p.Gly859Glu) c.2612G>A (p.Gly871Glu) c.2588G>A (p.Gly863Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208694C>A | CA388610731 | LIG4 | c.2374G>T (p.Gly792Ter) c.2575G>T (p.Gly859Ter) c.2611G>T (p.Gly871Ter) c.2587G>T (p.Gly863Ter) | |
13 | g.108208694C= | CA2117793872 | LIG4 | c.2374G= (p.Gly792=) c.2575G= (p.Gly859=) c.2611G= (p.Gly871=) c.2587G= (p.Gly863=) | |
13 | g.108208694C>G | CA388610732 | LIG4 | c.2374G>C (p.Gly792Arg) c.2575G>C (p.Gly859Arg) c.2611G>C (p.Gly871Arg) c.2587G>C (p.Gly863Arg) | dbSNP |
13 | g.108208694C>T | CA388610733 | LIG4 | c.2374G>A (p.Gly792Arg) c.2575G>A (p.Gly859Arg) c.2611G>A (p.Gly871Arg) c.2587G>A (p.Gly863Arg) | dbSNP |
13 | g.108208695C>A | CA388610735 | LIG4 | c.2373G>T (p.Glu791Asp) c.2574G>T (p.Glu858Asp) c.2610G>T (p.Glu870Asp) c.2586G>T (p.Glu862Asp) | |
13 | g.108208695C>G | CA388610734 | LIG4 | c.2373G>C (p.Glu791Asp) c.2574G>C (p.Glu858Asp) c.2610G>C (p.Glu870Asp) c.2586G>C (p.Glu862Asp) | |
13 | g.108208695C>T | CA484781559 | LIG4 | c.2373G>A (p.Glu791=) c.2574G>A (p.Glu858=) c.2610G>A (p.Glu870=) c.2586G>A (p.Glu862=) | |
13 | g.108208696T>A | CA388610736 | LIG4 | c.2372A>T (p.Glu791Val) c.2573A>T (p.Glu858Val) c.2609A>T (p.Glu870Val) c.2585A>T (p.Glu862Val) | |
13 | g.108208696T>C | CA388610737 | LIG4 | c.2372A>G (p.Glu791Gly) c.2573A>G (p.Glu858Gly) c.2609A>G (p.Glu870Gly) c.2585A>G (p.Glu862Gly) | |
13 | g.108208696T>G | CA388610738 | LIG4 | c.2372A>C (p.Glu791Ala) c.2573A>C (p.Glu858Ala) c.2609A>C (p.Glu870Ala) c.2585A>C (p.Glu862Ala) | |
13 | g.108208697C>A | CA388610741 | LIG4 | c.2371G>T (p.Glu791Ter) c.2572G>T (p.Glu858Ter) c.2608G>T (p.Glu870Ter) c.2584G>T (p.Glu862Ter) | gnomAD v4 |
13 | g.108208697C>G | CA388610743 | LIG4 | c.2371G>C (p.Glu791Gln) c.2572G>C (p.Glu858Gln) c.2608G>C (p.Glu870Gln) c.2584G>C (p.Glu862Gln) | |
13 | g.108208697C>T | CA388610744 | LIG4 | c.2371G>A (p.Glu791Lys) c.2572G>A (p.Glu858Lys) c.2608G>A (p.Glu870Lys) c.2584G>A (p.Glu862Lys) | gnomAD v4 |
13 | g.108208698A>C | CA484781562 | LIG4 | c.2370T>G (p.Ala790=) c.2571T>G (p.Ala857=) c.2607T>G (p.Ala869=) c.2583T>G (p.Ala861=) | |
13 | g.108208698A>G | CA484781560 | LIG4 | c.2370T>C (p.Ala790=) c.2571T>C (p.Ala857=) c.2607T>C (p.Ala869=) c.2583T>C (p.Ala861=) | |
13 | g.108208698A>T | CA484781561 | LIG4 | c.2370T>A (p.Ala790=) c.2571T>A (p.Ala857=) c.2607T>A (p.Ala869=) c.2583T>A (p.Ala861=) | |
13 | g.108208699G>A | CA388610747 | LIG4 | c.2369C>T (p.Ala790Val) c.2570C>T (p.Ala857Val) c.2606C>T (p.Ala869Val) c.2582C>T (p.Ala861Val) | |
13 | g.108208699G>C | CA388610748 | LIG4 | c.2369C>G (p.Ala790Gly) c.2570C>G (p.Ala857Gly) c.2606C>G (p.Ala869Gly) c.2582C>G (p.Ala861Gly) | |
13 | g.108208699G>T | CA388610750 | LIG4 | c.2369C>A (p.Ala790Asp) c.2570C>A (p.Ala857Asp) c.2606C>A (p.Ala869Asp) c.2582C>A (p.Ala861Asp) | |
13 | g.108208700C>A | CA388610752 | LIG4 | c.2368G>T (p.Ala790Ser) c.2569G>T (p.Ala857Ser) c.2605G>T (p.Ala869Ser) c.2581G>T (p.Ala861Ser) | |
13 | g.108208700C= | CA2117793873 | LIG4 | c.2368G= (p.Ala790=) c.2569G= (p.Ala857=) c.2605G= (p.Ala869=) c.2581G= (p.Ala861=) | |
13 | g.108208700C>G | CA388610754 | LIG4 | c.2368G>C (p.Ala790Pro) c.2569G>C (p.Ala857Pro) c.2605G>C (p.Ala869Pro) c.2581G>C (p.Ala861Pro) | |
13 | g.108208700C>T | CA7043470 | LIG4 | c.2368G>A (p.Ala790Thr) c.2569G>A (p.Ala857Thr) c.2605G>A (p.Ala869Thr) c.2581G>A (p.Ala861Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208701T>A | CA388610760 | LIG4 | c.2367A>T (p.Leu789Phe) c.2568A>T (p.Leu856Phe) c.2604A>T (p.Leu868Phe) c.2580A>T (p.Leu860Phe) | |
13 | g.108208701T>C | CA484781563 | LIG4 | c.2367A>G (p.Leu789=) c.2568A>G (p.Leu856=) c.2604A>G (p.Leu868=) c.2580A>G (p.Leu860=) | |
13 | g.108208701T>G | CA388610758 | LIG4 | c.2367A>C (p.Leu789Phe) c.2568A>C (p.Leu856Phe) c.2604A>C (p.Leu868Phe) c.2580A>C (p.Leu860Phe) | |
13 | g.108208702A= | CA2117793874 | LIG4 | c.2366T= (p.Leu789=) c.2567T= (p.Leu856=) c.2603T= (p.Leu868=) c.2579T= (p.Leu860=) | |
13 | g.108208702A>C | CA388610762 | LIG4 | c.2366T>G (p.Leu789Ter) c.2567T>G (p.Leu856Ter) c.2603T>G (p.Leu868Ter) c.2579T>G (p.Leu860Ter) | |
13 | g.108208702A>G | CA388610766 | LIG4 | c.2366T>C (p.Leu789Ser) c.2567T>C (p.Leu856Ser) c.2603T>C (p.Leu868Ser) c.2579T>C (p.Leu860Ser) | dbSNP gnomAD v4 |
13 | g.108208702A>T | CA388610764 | LIG4 | c.2366T>A (p.Leu789Ter) c.2567T>A (p.Leu856Ter) c.2603T>A (p.Leu868Ter) c.2579T>A (p.Leu860Ter) | |
13 | g.108208703A>C | CA388610768 | LIG4 | c.2365T>G (p.Leu789Val) c.2566T>G (p.Leu856Val) c.2602T>G (p.Leu868Val) c.2578T>G (p.Leu860Val) | |
13 | g.108208703A>G | CA484781564 | LIG4 | c.2365T>C (p.Leu789=) c.2566T>C (p.Leu856=) c.2602T>C (p.Leu868=) c.2578T>C (p.Leu860=) | |
13 | g.108208703A>T | CA388610770 | LIG4 | c.2365T>A (p.Leu789Ile) c.2566T>A (p.Leu856Ile) c.2602T>A (p.Leu868Ile) c.2578T>A (p.Leu860Ile) | |
13 | g.108208704A>C | CA388610772 | LIG4 | c.2364T>G (p.Cys788Trp) c.2565T>G (p.Cys855Trp) c.2601T>G (p.Cys867Trp) c.2577T>G (p.Cys859Trp) | |
13 | g.108208704A>G | CA484781565 | LIG4 | c.2364T>C (p.Cys788=) c.2565T>C (p.Cys855=) c.2601T>C (p.Cys867=) c.2577T>C (p.Cys859=) | |
13 | g.108208704A>T | CA388610775 | LIG4 | c.2364T>A (p.Cys788Ter) c.2565T>A (p.Cys855Ter) c.2601T>A (p.Cys867Ter) c.2577T>A (p.Cys859Ter) | |
13 | g.108208705C>A | CA388610776 | LIG4 | c.2363G>T (p.Cys788Phe) c.2564G>T (p.Cys855Phe) c.2600G>T (p.Cys867Phe) c.2576G>T (p.Cys859Phe) | |
13 | g.108208705C= | CA2117793875 | LIG4 | c.2363G= (p.Cys788=) c.2564G= (p.Cys855=) c.2600G= (p.Cys867=) c.2576G= (p.Cys859=) | |
13 | g.108208705C>G | CA388610778 | LIG4 | c.2363G>C (p.Cys788Ser) c.2564G>C (p.Cys855Ser) c.2600G>C (p.Cys867Ser) c.2576G>C (p.Cys859Ser) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208705C>T | CA388610780 | LIG4 | c.2363G>A (p.Cys788Tyr) c.2564G>A (p.Cys855Tyr) c.2600G>A (p.Cys867Tyr) c.2576G>A (p.Cys859Tyr) | gnomAD v4 |
13 | g.108208706A>C | CA388610782 | LIG4 | c.2362T>G (p.Cys788Gly) c.2563T>G (p.Cys855Gly) c.2599T>G (p.Cys867Gly) c.2575T>G (p.Cys859Gly) | gnomAD v4 |
13 | g.108208706A>G | CA388610785 | LIG4 | c.2362T>C (p.Cys788Arg) c.2563T>C (p.Cys855Arg) c.2599T>C (p.Cys867Arg) c.2575T>C (p.Cys859Arg) | |
13 | g.108208706A>T | CA388610787 | LIG4 | c.2362T>A (p.Cys788Ser) c.2563T>A (p.Cys855Ser) c.2599T>A (p.Cys867Ser) c.2575T>A (p.Cys859Ser) | |
13 | g.108208707A>C | CA484974927 | LIG4 | c.2361T>G (p.Ser787=) c.2562T>G (p.Ser854=) c.2598T>G (p.Ser866=) c.2574T>G (p.Ser858=) | |
13 | g.108208707A>G | CA484974928 | LIG4 | c.2361T>C (p.Ser787=) c.2562T>C (p.Ser854=) c.2598T>C (p.Ser866=) c.2574T>C (p.Ser858=) | |
13 | g.108208707A>T | CA484974929 | LIG4 | c.2361T>A (p.Ser787=) c.2562T>A (p.Ser854=) c.2598T>A (p.Ser866=) c.2574T>A (p.Ser858=) | |
13 | g.108208708G>A | CA388612478 | LIG4 | c.2360C>T (p.Ser787Phe) c.2561C>T (p.Ser854Phe) c.2597C>T (p.Ser866Phe) c.2573C>T (p.Ser858Phe) | COSMIC |
13 | g.108208708G>C | CA388612479 | LIG4 | c.2360C>G (p.Ser787Cys) c.2561C>G (p.Ser854Cys) c.2597C>G (p.Ser866Cys) c.2573C>G (p.Ser858Cys) | dbSNP |
13 | g.108208708G= | CA2117793876 | LIG4 | c.2360C= (p.Ser787=) c.2561C= (p.Ser854=) c.2597C= (p.Ser866=) c.2573C= (p.Ser858=) | |
13 | g.108208708G>T | CA7043471 | LIG4 | c.2360C>A (p.Ser787Tyr) c.2561C>A (p.Ser854Tyr) c.2597C>A (p.Ser866Tyr) c.2573C>A (p.Ser858Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.108208709A>C | CA388612480 | LIG4 | c.2359T>G (p.Ser787Ala) c.2560T>G (p.Ser854Ala) c.2596T>G (p.Ser866Ala) c.2572T>G (p.Ser858Ala) | |
13 | g.108208709A>G | CA388612482 | LIG4 | c.2359T>C (p.Ser787Pro) c.2560T>C (p.Ser854Pro) c.2596T>C (p.Ser866Pro) c.2572T>C (p.Ser858Pro) | gnomAD v4 |
13 | g.108208709A>T | CA388612481 | LIG4 | c.2359T>A (p.Ser787Thr) c.2560T>A (p.Ser854Thr) c.2596T>A (p.Ser866Thr) c.2572T>A (p.Ser858Thr) | |
13 | g.108208710A>C | CA484974930 | LIG4 | c.2358T>G (p.Val786=) c.2559T>G (p.Val853=) c.2595T>G (p.Val865=) c.2571T>G (p.Val857=) | dbSNP |
13 | g.108208710A>G | CA484974931 | LIG4 | c.2358T>C (p.Val786=) c.2559T>C (p.Val853=) c.2595T>C (p.Val865=) c.2571T>C (p.Val857=) | |
13 | g.108208710A>T | CA484974932 | LIG4 | c.2358T>A (p.Val786=) c.2559T>A (p.Val853=) c.2595T>A (p.Val865=) c.2571T>A (p.Val857=) | |
13 | g.108208711A>C | CA388612485 | LIG4 | c.2357T>G (p.Val786Gly) c.2558T>G (p.Val853Gly) c.2594T>G (p.Val865Gly) c.2570T>G (p.Val857Gly) | |
13 | g.108208711A>G | CA388612487 | LIG4 | c.2357T>C (p.Val786Ala) c.2558T>C (p.Val853Ala) c.2594T>C (p.Val865Ala) c.2570T>C (p.Val857Ala) | |
13 | g.108208711A>T | CA388612489 | LIG4 | c.2357T>A (p.Val786Asp) c.2558T>A (p.Val853Asp) c.2594T>A (p.Val865Asp) c.2570T>A (p.Val857Asp) | |
13 | g.108208712C>A | CA388612492 | LIG4 | c.2356G>T (p.Val786Phe) c.2557G>T (p.Val853Phe) c.2593G>T (p.Val865Phe) c.2569G>T (p.Val857Phe) | |
13 | g.108208712C>G | CA388612495 | LIG4 | c.2356G>C (p.Val786Leu) c.2557G>C (p.Val853Leu) c.2593G>C (p.Val865Leu) c.2569G>C (p.Val857Leu) | |
13 | g.108208712C>T | CA388612497 | LIG4 | c.2356G>A (p.Val786Ile) c.2557G>A (p.Val853Ile) c.2593G>A (p.Val865Ile) c.2569G>A (p.Val857Ile) | |
13 | g.108208713T>A | CA484974933 | LIG4 | c.2355A>T (p.Val785=) c.2556A>T (p.Val852=) c.2592A>T (p.Val864=) c.2568A>T (p.Val856=) | |
13 | g.108208713T>C | CA7043472 | LIG4 | c.2355A>G (p.Val785=) c.2556A>G (p.Val852=) c.2592A>G (p.Val864=) c.2568A>G (p.Val856=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208713T>G | CA484974934 | LIG4 | c.2355A>C (p.Val785=) c.2556A>C (p.Val852=) c.2592A>C (p.Val864=) c.2568A>C (p.Val856=) | |
13 | g.108208713T= | CA2117793877 | LIG4 | c.2355A= (p.Val785=) c.2556A= (p.Val852=) c.2592A= (p.Val864=) c.2568A= (p.Val856=) | |
13 | g.108208714A= | CA2117793878 | LIG4 | c.2354T= (p.Val785=) c.2555T= (p.Val852=) c.2591T= (p.Val864=) c.2567T= (p.Val856=) | |
13 | g.108208714A>C | CA388612500 | LIG4 | c.2354T>G (p.Val785Gly) c.2555T>G (p.Val852Gly) c.2591T>G (p.Val864Gly) c.2567T>G (p.Val856Gly) | |
13 | g.108208714A>G | CA388612502 | LIG4 | c.2354T>C (p.Val785Ala) c.2555T>C (p.Val852Ala) c.2591T>C (p.Val864Ala) c.2567T>C (p.Val856Ala) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208714A>T | CA388612505 | LIG4 | c.2354T>A (p.Val785Glu) c.2555T>A (p.Val852Glu) c.2591T>A (p.Val864Glu) c.2567T>A (p.Val856Glu) | |
13 | g.108208715C>A | CA388612511 | LIG4 | c.2353G>T (p.Val785Leu) c.2554G>T (p.Val852Leu) c.2590G>T (p.Val864Leu) c.2566G>T (p.Val856Leu) | |
13 | g.108208715C>G | CA388612509 | LIG4 | c.2353G>C (p.Val785Leu) c.2554G>C (p.Val852Leu) c.2590G>C (p.Val864Leu) c.2566G>C (p.Val856Leu) | gnomAD v4 |
13 | g.108208715C>T | CA388612507 | LIG4 | c.2353G>A (p.Val785Ile) c.2554G>A (p.Val852Ile) c.2590G>A (p.Val864Ile) c.2566G>A (p.Val856Ile) | COSMIC |
13 | g.108208716T>A | CA388612512 | LIG4 | c.2352A>T (p.Lys784Asn) c.2553A>T (p.Lys851Asn) c.2589A>T (p.Lys863Asn) c.2565A>T (p.Lys855Asn) | |
13 | g.108208716T>C | CA484974936 | LIG4 | c.2352A>G (p.Lys784=) c.2553A>G (p.Lys851=) c.2589A>G (p.Lys863=) c.2565A>G (p.Lys855=) | |
13 | g.108208716T>G | CA388612513 | LIG4 | c.2352A>C (p.Lys784Asn) c.2553A>C (p.Lys851Asn) c.2589A>C (p.Lys863Asn) c.2565A>C (p.Lys855Asn) | |
13 | g.108208719del | CA2623644095 | LIG4 | c.2352del (p.Val785Ter) c.2553del (p.Val852Ter) c.2589del (p.Val864Ter) c.2565del (p.Val856Ter) | gnomAD v4 |
13 | g.108208717T>A | CA388612515 | LIG4 | c.2351A>T (p.Lys784Ile) c.2552A>T (p.Lys851Ile) c.2588A>T (p.Lys863Ile) c.2564A>T (p.Lys855Ile) | |
13 | g.108208717T>C | CA388612519 | LIG4 | c.2351A>G (p.Lys784Arg) c.2552A>G (p.Lys851Arg) c.2588A>G (p.Lys863Arg) c.2564A>G (p.Lys855Arg) | |
13 | g.108208717T>G | CA388612532 | LIG4 | c.2351A>C (p.Lys784Thr) c.2552A>C (p.Lys851Thr) c.2588A>C (p.Lys863Thr) c.2564A>C (p.Lys855Thr) | |
13 | g.108208718T>A | CA388612535 | LIG4 | c.2350A>T (p.Lys784Ter) c.2551A>T (p.Lys851Ter) c.2587A>T (p.Lys863Ter) c.2563A>T (p.Lys855Ter) | |
13 | g.108208718T>C | CA388612534 | LIG4 | c.2350A>G (p.Lys784Glu) c.2551A>G (p.Lys851Glu) c.2587A>G (p.Lys863Glu) c.2563A>G (p.Lys855Glu) | |
13 | g.108208718T>G | CA388612533 | LIG4 | c.2350A>C (p.Lys784Gln) c.2551A>C (p.Lys851Gln) c.2587A>C (p.Lys863Gln) c.2563A>C (p.Lys855Gln) | |
13 | g.108208719T>A | CA484974939 | LIG4 | c.2349A>T (p.Ala783=) c.2550A>T (p.Ala850=) c.2586A>T (p.Ala862=) c.2562A>T (p.Ala854=) | |
13 | g.108208719T>C | CA484974940 | LIG4 | c.2349A>G (p.Ala783=) c.2550A>G (p.Ala850=) c.2586A>G (p.Ala862=) c.2562A>G (p.Ala854=) | |
13 | g.108208719T>G | CA484974941 | LIG4 | c.2349A>C (p.Ala783=) c.2550A>C (p.Ala850=) c.2586A>C (p.Ala862=) c.2562A>C (p.Ala854=) | |
13 | g.108208720G>A | CA7043473 | LIG4 | c.2348C>T (p.Ala783Val) c.2549C>T (p.Ala850Val) c.2585C>T (p.Ala862Val) c.2561C>T (p.Ala854Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208720G>C | CA388612540 | LIG4 | c.2348C>G (p.Ala783Gly) c.2549C>G (p.Ala850Gly) c.2585C>G (p.Ala862Gly) c.2561C>G (p.Ala854Gly) | |
13 | g.108208720G= | CA2117793879 | LIG4 | c.2348C= (p.Ala783=) c.2549C= (p.Ala850=) c.2585C= (p.Ala862=) c.2561C= (p.Ala854=) | |
13 | g.108208720G>T | CA388612541 | LIG4 | c.2348C>A (p.Ala783Glu) c.2549C>A (p.Ala850Glu) c.2585C>A (p.Ala862Glu) c.2561C>A (p.Ala854Glu) | |
13 | g.108208721C>A | CA388612544 | LIG4 | c.2347G>T (p.Ala783Ser) c.2548G>T (p.Ala850Ser) c.2584G>T (p.Ala862Ser) c.2560G>T (p.Ala854Ser) | |
13 | g.108208721C>G | CA388612547 | LIG4 | c.2347G>C (p.Ala783Pro) c.2548G>C (p.Ala850Pro) c.2584G>C (p.Ala862Pro) c.2560G>C (p.Ala854Pro) | |
13 | g.108208721C>T | CA388612549 | LIG4 | c.2347G>A (p.Ala783Thr) c.2548G>A (p.Ala850Thr) c.2584G>A (p.Ala862Thr) c.2560G>A (p.Ala854Thr) | gnomAD v4 |
13 | g.108208722T>A | CA484974943 | LIG4 | c.2346A>T (p.Gly782=) c.2547A>T (p.Gly849=) c.2583A>T (p.Gly861=) c.2559A>T (p.Gly853=) | |
13 | g.108208722T>C | CA484974944 | LIG4 | c.2346A>G (p.Gly782=) c.2547A>G (p.Gly849=) c.2583A>G (p.Gly861=) c.2559A>G (p.Gly853=) | |
13 | g.108208722T>G | CA484974945 | LIG4 | c.2346A>C (p.Gly782=) c.2547A>C (p.Gly849=) c.2583A>C (p.Gly861=) c.2559A>C (p.Gly853=) | |
13 | g.108208723C>A | CA388612551 | LIG4 | c.2345G>T (p.Gly782Val) c.2546G>T (p.Gly849Val) c.2582G>T (p.Gly861Val) c.2558G>T (p.Gly853Val) | |
13 | g.108208723C= | CA2117793880 | LIG4 | c.2345G= (p.Gly782=) c.2546G= (p.Gly849=) c.2582G= (p.Gly861=) c.2558G= (p.Gly853=) | |
13 | g.108208723C>G | CA388612556 | LIG4 | c.2345G>C (p.Gly782Ala) c.2546G>C (p.Gly849Ala) c.2582G>C (p.Gly861Ala) c.2558G>C (p.Gly853Ala) | |
13 | g.108208723C>T | CA7043474 | LIG4 | c.2345G>A (p.Gly782Glu) c.2546G>A (p.Gly849Glu) c.2582G>A (p.Gly861Glu) c.2558G>A (p.Gly853Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208724C>A | CA388612558 | LIG4 | c.2344G>T (p.Gly782Ter) c.2545G>T (p.Gly849Ter) c.2581G>T (p.Gly861Ter) c.2557G>T (p.Gly853Ter) | |
13 | g.108208724C= | CA2117793881 | LIG4 | c.2344G= (p.Gly782=) c.2545G= (p.Gly849=) c.2581G= (p.Gly861=) c.2557G= (p.Gly853=) | |
13 | g.108208724C>G | CA388612561 | LIG4 | c.2344G>C (p.Gly782Arg) c.2545G>C (p.Gly849Arg) c.2581G>C (p.Gly861Arg) c.2557G>C (p.Gly853Arg) | |
13 | g.108208724C>T | CA388612567 | LIG4 | c.2344G>A (p.Gly782Arg) c.2545G>A (p.Gly849Arg) c.2581G>A (p.Gly861Arg) c.2557G>A (p.Gly853Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.108208725A= | CA2117793882 | LIG4 | c.2343T= (p.His781=) c.2544T= (p.His848=) c.2580T= (p.His860=) c.2556T= (p.His852=) | |
13 | g.108208725A>C | CA388612568 | LIG4 | c.2343T>G (p.His781Gln) c.2544T>G (p.His848Gln) c.2580T>G (p.His860Gln) c.2556T>G (p.His852Gln) | |
13 | g.108208725A>G | CA484974947 | LIG4 | c.2343T>C (p.His781=) c.2544T>C (p.His848=) c.2580T>C (p.His860=) c.2556T>C (p.His852=) | dbSNP |
13 | g.108208725A>T | CA388612569 | LIG4 | c.2343T>A (p.His781Gln) c.2544T>A (p.His848Gln) c.2580T>A (p.His860Gln) c.2556T>A (p.His852Gln) | |
13 | g.108208726T>A | CA388612570 | LIG4 | c.2342A>T (p.His781Leu) c.2543A>T (p.His848Leu) c.2579A>T (p.His860Leu) c.2555A>T (p.His852Leu) | |
13 | g.108208726T>C | CA388612571 | LIG4 | c.2342A>G (p.His781Arg) c.2543A>G (p.His848Arg) c.2579A>G (p.His860Arg) c.2555A>G (p.His852Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.108208726T>G | CA388612573 | LIG4 | c.2342A>C (p.His781Pro) c.2543A>C (p.His848Pro) c.2579A>C (p.His860Pro) c.2555A>C (p.His852Pro) | |
13 | g.108208726T= | CA2117793883 | LIG4 | c.2342A= (p.His781=) c.2543A= (p.His848=) c.2579A= (p.His860=) c.2555A= (p.His852=) | |
13 | g.108208727G>A | CA388612584 | LIG4 | c.2341C>T (p.His781Tyr) c.2542C>T (p.His848Tyr) c.2578C>T (p.His860Tyr) c.2554C>T (p.His852Tyr) | |
13 | g.108208727G>C | CA388612590 | LIG4 | c.2341C>G (p.His781Asp) c.2542C>G (p.His848Asp) c.2578C>G (p.His860Asp) c.2554C>G (p.His852Asp) | |
13 | g.108208727G>T | CA388612593 | LIG4 | c.2341C>A (p.His781Asn) c.2542C>A (p.His848Asn) c.2578C>A (p.His860Asn) c.2554C>A (p.His852Asn) | COSMIC |
13 | g.108208728A= | CA2117793884 | LIG4 | c.2340T= (p.Phe780=) c.2541T= (p.Phe847=) c.2577T= (p.Phe859=) c.2553T= (p.Phe851=) | |
13 | g.108208728A>C | CA388612598 | LIG4 | c.2340T>G (p.Phe780Leu) c.2541T>G (p.Phe847Leu) c.2577T>G (p.Phe859Leu) c.2553T>G (p.Phe851Leu) | dbSNP |
13 | g.108208728A>G | CA484974949 | LIG4 | c.2340T>C (p.Phe780=) c.2541T>C (p.Phe847=) c.2577T>C (p.Phe859=) c.2553T>C (p.Phe851=) | ClinVar gnomAD v4 |
13 | g.108208728A>T | CA388612604 | LIG4 | c.2340T>A (p.Phe780Leu) c.2541T>A (p.Phe847Leu) c.2577T>A (p.Phe859Leu) c.2553T>A (p.Phe851Leu) | |
13 | g.108208729A>C | CA388612607 | LIG4 | c.2339T>G (p.Phe780Cys) c.2540T>G (p.Phe847Cys) c.2576T>G (p.Phe859Cys) c.2552T>G (p.Phe851Cys) | |
13 | g.108208729A>G | CA388612614 | LIG4 | c.2339T>C (p.Phe780Ser) c.2540T>C (p.Phe847Ser) c.2576T>C (p.Phe859Ser) c.2552T>C (p.Phe851Ser) | |
13 | g.108208729A>T | CA388612610 | LIG4 | c.2339T>A (p.Phe780Tyr) c.2540T>A (p.Phe847Tyr) c.2576T>A (p.Phe859Tyr) c.2552T>A (p.Phe851Tyr) | |
13 | g.108208730A>C | CA388612616 | LIG4 | c.2338T>G (p.Phe780Val) c.2539T>G (p.Phe847Val) c.2575T>G (p.Phe859Val) c.2551T>G (p.Phe851Val) | |
13 | g.108208730A>G | CA388612619 | LIG4 | c.2338T>C (p.Phe780Leu) c.2539T>C (p.Phe847Leu) c.2575T>C (p.Phe859Leu) c.2551T>C (p.Phe851Leu) | |
13 | g.108208730A>T | CA388612618 | LIG4 | c.2338T>A (p.Phe780Ile) c.2539T>A (p.Phe847Ile) c.2575T>A (p.Phe859Ile) c.2551T>A (p.Phe851Ile) | |
13 | g.108208731C>A | CA484974951 | LIG4 | c.2337G>T (p.Arg779=) c.2538G>T (p.Arg846=) c.2574G>T (p.Arg858=) c.2550G>T (p.Arg850=) | |
13 | g.108208731C>G | CA484974952 | LIG4 | c.2337G>C (p.Arg779=) c.2538G>C (p.Arg846=) c.2574G>C (p.Arg858=) c.2550G>C (p.Arg850=) | |
13 | g.108208731C>T | CA484974953 | LIG4 | c.2337G>A (p.Arg779=) c.2538G>A (p.Arg846=) c.2574G>A (p.Arg858=) c.2550G>A (p.Arg850=) | |
13 | g.108208732C>A | CA388612620 | LIG4 | c.2336G>T (p.Arg779Leu) c.2537G>T (p.Arg846Leu) c.2573G>T (p.Arg858Leu) c.2549G>T (p.Arg850Leu) | |
13 | g.108208732C= | CA2117793885 | LIG4 | c.2336G= (p.Arg779=) c.2537G= (p.Arg846=) c.2573G= (p.Arg858=) c.2549G= (p.Arg850=) | |
13 | g.108208732C>G | CA388612621 | LIG4 | c.2336G>C (p.Arg779Pro) c.2537G>C (p.Arg846Pro) c.2573G>C (p.Arg858Pro) c.2549G>C (p.Arg850Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208732C>T | CA256179039 | LIG4 | c.2336G>A (p.Arg779Gln) c.2537G>A (p.Arg846Gln) c.2573G>A (p.Arg858Gln) c.2549G>A (p.Arg850Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208733G>A | CA7043475 | LIG4 | c.2335C>T (p.Arg779Trp) c.2536C>T (p.Arg846Trp) c.2572C>T (p.Arg858Trp) c.2548C>T (p.Arg850Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208733G>C | CA388612624 | LIG4 | c.2335C>G (p.Arg779Gly) c.2536C>G (p.Arg846Gly) c.2572C>G (p.Arg858Gly) c.2548C>G (p.Arg850Gly) | |
13 | g.108208733G= | CA2117793886 | LIG4 | c.2335C= (p.Arg779=) c.2536C= (p.Arg846=) c.2572C= (p.Arg858=) c.2548C= (p.Arg850=) | |
13 | g.108208733G>T | CA484974954 | LIG4 | c.2335C>A (p.Arg779=) c.2536C>A (p.Arg846=) c.2572C>A (p.Arg858=) c.2548C>A (p.Arg850=) | |
13 | g.108208734A>C | CA484974956 | LIG4 | c.2334T>G (p.Leu778=) c.2535T>G (p.Leu845=) c.2571T>G (p.Leu857=) c.2547T>G (p.Leu849=) | |
13 | g.108208734A>G | CA484974958 | LIG4 | c.2334T>C (p.Leu778=) c.2535T>C (p.Leu845=) c.2571T>C (p.Leu857=) c.2547T>C (p.Leu849=) | |
13 | g.108208734A>T | CA484974959 | LIG4 | c.2334T>A (p.Leu778=) c.2535T>A (p.Leu845=) c.2571T>A (p.Leu857=) c.2547T>A (p.Leu849=) | |
13 | g.108208735A= | CA2117793887 | LIG4 | c.2333T= (p.Leu778=) c.2534T= (p.Leu845=) c.2570T= (p.Leu857=) c.2546T= (p.Leu849=) | |
13 | g.108208735A>C | CA388612626 | LIG4 | c.2333T>G (p.Leu778Arg) c.2534T>G (p.Leu845Arg) c.2570T>G (p.Leu857Arg) c.2546T>G (p.Leu849Arg) | |
13 | g.108208735A>G | CA388612629 | LIG4 | c.2333T>C (p.Leu778Pro) c.2534T>C (p.Leu845Pro) c.2570T>C (p.Leu857Pro) c.2546T>C (p.Leu849Pro) | dbSNP gnomAD v2 |
13 | g.108208735A>T | CA388612642 | LIG4 | c.2333T>A (p.Leu778His) c.2534T>A (p.Leu845His) c.2570T>A (p.Leu857His) c.2546T>A (p.Leu849His) | |
13 | g.108208736G>A | CA388612643 | LIG4 | c.2332C>T (p.Leu778Phe) c.2533C>T (p.Leu845Phe) c.2569C>T (p.Leu857Phe) c.2545C>T (p.Leu849Phe) | |
13 | g.108208736G>C | CA388612644 | LIG4 | c.2332C>G (p.Leu778Val) c.2533C>G (p.Leu845Val) c.2569C>G (p.Leu857Val) c.2545C>G (p.Leu849Val) | |
13 | g.108208736G>T | CA388612645 | LIG4 | c.2332C>A (p.Leu778Ile) c.2533C>A (p.Leu845Ile) c.2569C>A (p.Leu857Ile) c.2545C>A (p.Leu849Ile) | |
13 | g.108208737C>A | CA388612650 | LIG4 | c.2331G>T (p.Glu777Asp) c.2532G>T (p.Glu844Asp) c.2568G>T (p.Glu856Asp) c.2544G>T (p.Glu848Asp) | |
13 | g.108208737C>G | CA388612648 | LIG4 | c.2331G>C (p.Glu777Asp) c.2532G>C (p.Glu844Asp) c.2568G>C (p.Glu856Asp) c.2544G>C (p.Glu848Asp) | |
13 | g.108208737C>T | CA484974961 | LIG4 | c.2331G>A (p.Glu777=) c.2532G>A (p.Glu844=) c.2568G>A (p.Glu856=) c.2544G>A (p.Glu848=) | gnomAD v4 |
13 | g.108208738T>A | CA388612653 | LIG4 | c.2330A>T (p.Glu777Val) c.2531A>T (p.Glu844Val) c.2567A>T (p.Glu856Val) c.2543A>T (p.Glu848Val) | |
13 | g.108208738T>C | CA388612655 | LIG4 | c.2330A>G (p.Glu777Gly) c.2531A>G (p.Glu844Gly) c.2567A>G (p.Glu856Gly) c.2543A>G (p.Glu848Gly) | |
13 | g.108208738T>G | CA388612657 | LIG4 | c.2330A>C (p.Glu777Ala) c.2531A>C (p.Glu844Ala) c.2567A>C (p.Glu856Ala) c.2543A>C (p.Glu848Ala) | |
13 | g.108208739C>A | CA388612660 | LIG4 | c.2329G>T (p.Glu777Ter) c.2530G>T (p.Glu844Ter) c.2566G>T (p.Glu856Ter) c.2542G>T (p.Glu848Ter) | |
13 | g.108208739C>G | CA388612664 | LIG4 | c.2329G>C (p.Glu777Gln) c.2530G>C (p.Glu844Gln) c.2566G>C (p.Glu856Gln) c.2542G>C (p.Glu848Gln) | |
13 | g.108208739C>T | CA388612666 | LIG4 | c.2329G>A (p.Glu777Lys) c.2530G>A (p.Glu844Lys) c.2566G>A (p.Glu856Lys) c.2542G>A (p.Glu848Lys) | |
13 | g.108208740C>A | CA388612667 | LIG4 | c.2328G>T (p.Leu776Phe) c.2529G>T (p.Leu843Phe) c.2565G>T (p.Leu855Phe) c.2541G>T (p.Leu847Phe) | |
13 | g.108208740C>G | CA388612668 | LIG4 | c.2328G>C (p.Leu776Phe) c.2529G>C (p.Leu843Phe) c.2565G>C (p.Leu855Phe) c.2541G>C (p.Leu847Phe) | |
13 | g.108208740C>T | CA484974963 | LIG4 | c.2328G>A (p.Leu776=) c.2529G>A (p.Leu843=) c.2565G>A (p.Leu855=) c.2541G>A (p.Leu847=) | ClinVar gnomAD v4 |
13 | g.108208741A>C | CA388612671 | LIG4 | c.2327T>G (p.Leu776Trp) c.2528T>G (p.Leu843Trp) c.2564T>G (p.Leu855Trp) c.2540T>G (p.Leu847Trp) | |
13 | g.108208741A>G | CA388612676 | LIG4 | c.2327T>C (p.Leu776Ser) c.2528T>C (p.Leu843Ser) c.2564T>C (p.Leu855Ser) c.2540T>C (p.Leu847Ser) | |
13 | g.108208741A>T | CA388612678 | LIG4 | c.2327T>A (p.Leu776Ter) c.2528T>A (p.Leu843Ter) c.2564T>A (p.Leu855Ter) c.2540T>A (p.Leu847Ter) | |
13 | g.108208742A= | CA2117793888 | LIG4 | c.2326T= (p.Leu776=) c.2527T= (p.Leu843=) c.2563T= (p.Leu855=) c.2539T= (p.Leu847=) | |
13 | g.108208742A>C | CA388612680 | LIG4 | c.2326T>G (p.Leu776Val) c.2527T>G (p.Leu843Val) c.2563T>G (p.Leu855Val) c.2539T>G (p.Leu847Val) | |
13 | g.108208742A>G | CA7043476 | LIG4 | c.2326T>C (p.Leu776=) c.2527T>C (p.Leu843=) c.2563T>C (p.Leu855=) c.2539T>C (p.Leu847=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208742A>T | CA388612679 | LIG4 | c.2326T>A (p.Leu776Met) c.2527T>A (p.Leu843Met) c.2563T>A (p.Leu855Met) c.2539T>A (p.Leu847Met) | |
13 | g.108208743G>A | CA484974964 | LIG4 | c.2325C>T (p.Ala775=) c.2526C>T (p.Ala842=) c.2562C>T (p.Ala854=) c.2538C>T (p.Ala846=) | |
13 | g.108208743G>C | CA484974965 | LIG4 | c.2325C>G (p.Ala775=) c.2526C>G (p.Ala842=) c.2562C>G (p.Ala854=) c.2538C>G (p.Ala846=) | |
13 | g.108208743G>T | CA484974966 | LIG4 | c.2325C>A (p.Ala775=) c.2526C>A (p.Ala842=) c.2562C>A (p.Ala854=) c.2538C>A (p.Ala846=) | |
13 | g.108208744G>A | CA388612681 | LIG4 | c.2324C>T (p.Ala775Val) c.2525C>T (p.Ala842Val) c.2561C>T (p.Ala854Val) c.2537C>T (p.Ala846Val) | |
13 | g.108208744G>C | CA388612682 | LIG4 | c.2324C>G (p.Ala775Gly) c.2525C>G (p.Ala842Gly) c.2561C>G (p.Ala854Gly) c.2537C>G (p.Ala846Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208744G= | CA2117793889 | LIG4 | c.2324C= (p.Ala775=) c.2525C= (p.Ala842=) c.2561C= (p.Ala854=) c.2537C= (p.Ala846=) | |
13 | g.108208744G>T | CA7043477 | LIG4 | c.2324C>A (p.Ala775Asp) c.2525C>A (p.Ala842Asp) c.2561C>A (p.Ala854Asp) c.2537C>A (p.Ala846Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208745C>A | CA388612683 | LIG4 | c.2323G>T (p.Ala775Ser) c.2524G>T (p.Ala842Ser) c.2560G>T (p.Ala854Ser) c.2536G>T (p.Ala846Ser) | |
13 | g.108208745C>G | CA388612685 | LIG4 | c.2323G>C (p.Ala775Pro) c.2524G>C (p.Ala842Pro) c.2560G>C (p.Ala854Pro) c.2536G>C (p.Ala846Pro) | |
13 | g.108208745C>T | CA388612686 | LIG4 | c.2323G>A (p.Ala775Thr) c.2524G>A (p.Ala842Thr) c.2560G>A (p.Ala854Thr) c.2536G>A (p.Ala846Thr) | gnomAD v4 |
13 | g.108208746T>A | CA388612687 | LIG4 | c.2322A>T (p.Lys774Asn) c.2523A>T (p.Lys841Asn) c.2559A>T (p.Lys853Asn) c.2535A>T (p.Lys845Asn) | |
13 | g.108208746T>C | CA484974968 | LIG4 | c.2322A>G (p.Lys774=) c.2523A>G (p.Lys841=) c.2559A>G (p.Lys853=) c.2535A>G (p.Lys845=) | |
13 | g.108208746T>G | CA388612688 | LIG4 | c.2322A>C (p.Lys774Asn) c.2523A>C (p.Lys841Asn) c.2559A>C (p.Lys853Asn) c.2535A>C (p.Lys845Asn) | |
13 | g.108208747T>A | CA388612690 | LIG4 | c.2321A>T (p.Lys774Ile) c.2522A>T (p.Lys841Ile) c.2558A>T (p.Lys853Ile) c.2534A>T (p.Lys845Ile) | |
13 | g.108208747T>C | CA388612692 | LIG4 | c.2321A>G (p.Lys774Arg) c.2522A>G (p.Lys841Arg) c.2558A>G (p.Lys853Arg) c.2534A>G (p.Lys845Arg) | |
13 | g.108208747T>G | CA388612693 | LIG4 | c.2321A>C (p.Lys774Thr) c.2522A>C (p.Lys841Thr) c.2558A>C (p.Lys853Thr) c.2534A>C (p.Lys845Thr) | gnomAD v4 |
13 | g.108208748T>A | CA388612695 | LIG4 | c.2320A>T (p.Lys774Ter) c.2521A>T (p.Lys841Ter) c.2557A>T (p.Lys853Ter) c.2533A>T (p.Lys845Ter) | |
13 | g.108208748T>C | CA388612697 | LIG4 | c.2320A>G (p.Lys774Glu) c.2521A>G (p.Lys841Glu) c.2557A>G (p.Lys853Glu) c.2533A>G (p.Lys845Glu) | dbSNP |
13 | g.108208748T>G | CA388612694 | LIG4 | c.2320A>C (p.Lys774Gln) c.2521A>C (p.Lys841Gln) c.2557A>C (p.Lys853Gln) c.2533A>C (p.Lys845Gln) | |
13 | g.108208748T= | CA2117793890 | LIG4 | c.2320A= (p.Lys774=) c.2521A= (p.Lys841=) c.2557A= (p.Lys853=) c.2533A= (p.Lys845=) | |
13 | g.108208749A= | CA2117793891 | LIG4 | c.2319T= (p.Ile773=) c.2520T= (p.Ile840=) c.2556T= (p.Ile852=) c.2532T= (p.Ile844=) | |
13 | g.108208749A>C | CA388612699 | LIG4 | c.2319T>G (p.Ile773Met) c.2520T>G (p.Ile840Met) c.2556T>G (p.Ile852Met) c.2532T>G (p.Ile844Met) | gnomAD v4 |
13 | g.108208749A>G | CA256179076 | LIG4 | c.2319T>C (p.Ile773=) c.2520T>C (p.Ile840=) c.2556T>C (p.Ile852=) c.2532T>C (p.Ile844=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208749A>T | CA484974969 | LIG4 | c.2319T>A (p.Ile773=) c.2520T>A (p.Ile840=) c.2556T>A (p.Ile852=) c.2532T>A (p.Ile844=) | |
13 | g.108208750A>C | CA388612704 | LIG4 | c.2318T>G (p.Ile773Ser) c.2519T>G (p.Ile840Ser) c.2555T>G (p.Ile852Ser) c.2531T>G (p.Ile844Ser) | |
13 | g.108208750A>G | CA388612715 | LIG4 | c.2318T>C (p.Ile773Thr) c.2519T>C (p.Ile840Thr) c.2555T>C (p.Ile852Thr) c.2531T>C (p.Ile844Thr) | ClinVar dbSNP |
13 | g.108208750A>T | CA388612720 | LIG4 | c.2318T>A (p.Ile773Asn) c.2519T>A (p.Ile840Asn) c.2555T>A (p.Ile852Asn) c.2531T>A (p.Ile844Asn) | |
13 | g.108208751T>A | CA388612725 | LIG4 | c.2317A>T (p.Ile773Phe) c.2518A>T (p.Ile840Phe) c.2554A>T (p.Ile852Phe) c.2530A>T (p.Ile844Phe) | |
13 | g.108208751T>C | CA7043478 | LIG4 | c.2317A>G (p.Ile773Val) c.2518A>G (p.Ile840Val) c.2554A>G (p.Ile852Val) c.2530A>G (p.Ile844Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208751T>G | CA388612723 | LIG4 | c.2317A>C (p.Ile773Leu) c.2518A>C (p.Ile840Leu) c.2554A>C (p.Ile852Leu) c.2530A>C (p.Ile844Leu) | |
13 | g.108208751T= | CA2117793892 | LIG4 | c.2317A= (p.Ile773=) c.2518A= (p.Ile840=) c.2554A= (p.Ile852=) c.2530A= (p.Ile844=) | |
13 | g.108208752A>C | CA484974971 | LIG4 | c.2316T>G (p.Ala772=) c.2517T>G (p.Ala839=) c.2553T>G (p.Ala851=) c.2529T>G (p.Ala843=) | |
13 | g.108208752A>G | CA484974972 | LIG4 | c.2316T>C (p.Ala772=) c.2517T>C (p.Ala839=) c.2553T>C (p.Ala851=) c.2529T>C (p.Ala843=) | ClinVar |
13 | g.108208752A>T | CA484974974 | LIG4 | c.2316T>A (p.Ala772=) c.2517T>A (p.Ala839=) c.2553T>A (p.Ala851=) c.2529T>A (p.Ala843=) | |
13 | g.108208753G>A | CA388612728 | LIG4 | c.2315C>T (p.Ala772Val) c.2516C>T (p.Ala839Val) c.2552C>T (p.Ala851Val) c.2528C>T (p.Ala843Val) | |
13 | g.108208753G>C | CA388612729 | LIG4 | c.2315C>G (p.Ala772Gly) c.2516C>G (p.Ala839Gly) c.2552C>G (p.Ala851Gly) c.2528C>G (p.Ala843Gly) | |
13 | g.108208753G>T | CA388612736 | LIG4 | c.2315C>A (p.Ala772Asp) c.2516C>A (p.Ala839Asp) c.2552C>A (p.Ala851Asp) c.2528C>A (p.Ala843Asp) | |
13 | g.108208754C>A | CA388612738 | LIG4 | c.2314G>T (p.Ala772Ser) c.2515G>T (p.Ala839Ser) c.2551G>T (p.Ala851Ser) c.2527G>T (p.Ala843Ser) | |
13 | g.108208754C= | CA2117793893 | LIG4 | c.2314G= (p.Ala772=) c.2515G= (p.Ala839=) c.2551G= (p.Ala851=) c.2527G= (p.Ala843=) | |
13 | g.108208754C>G | CA388612739 | LIG4 | c.2314G>C (p.Ala772Pro) c.2515G>C (p.Ala839Pro) c.2551G>C (p.Ala851Pro) c.2527G>C (p.Ala843Pro) | |
13 | g.108208754C>T | CA388612740 | LIG4 | c.2314G>A (p.Ala772Thr) c.2515G>A (p.Ala839Thr) c.2551G>A (p.Ala851Thr) c.2527G>A (p.Ala843Thr) | dbSNP |
13 | g.108208755T>A | CA388612745 | LIG4 | c.2313A>T (p.Leu771Phe) c.2514A>T (p.Leu838Phe) c.2550A>T (p.Leu850Phe) c.2526A>T (p.Leu842Phe) | |
13 | g.108208755T>C | CA484974977 | LIG4 | c.2313A>G (p.Leu771=) c.2514A>G (p.Leu838=) c.2550A>G (p.Leu850=) c.2526A>G (p.Leu842=) | |
13 | g.108208755T>G | CA388612742 | LIG4 | c.2313A>C (p.Leu771Phe) c.2514A>C (p.Leu838Phe) c.2550A>C (p.Leu850Phe) c.2526A>C (p.Leu842Phe) |