| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | 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) |