Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108208906G>A | CA388613409 | LIG4 | c.2162C>T (p.Thr721Ile) c.2363C>T (p.Thr788Ile) c.2399C>T (p.Thr800Ile) c.2375C>T (p.Thr792Ile) | dbSNP |
13 | g.108208906G>C | CA388613411 | LIG4 | c.2162C>G (p.Thr721Ser) c.2363C>G (p.Thr788Ser) c.2399C>G (p.Thr800Ser) c.2375C>G (p.Thr792Ser) | dbSNP gnomAD v2 |
13 | g.108208906G= | CA2117793969 | LIG4 | c.2162C= (p.Thr721=) c.2363C= (p.Thr788=) c.2399C= (p.Thr800=) c.2375C= (p.Thr792=) | |
13 | g.108208906G>T | CA388613412 | LIG4 | c.2162C>A (p.Thr721Asn) c.2363C>A (p.Thr788Asn) c.2399C>A (p.Thr800Asn) c.2375C>A (p.Thr792Asn) | |
13 | g.108208907T>A | CA388613414 | LIG4 | c.2161A>T (p.Thr721Ser) c.2362A>T (p.Thr788Ser) c.2398A>T (p.Thr800Ser) c.2374A>T (p.Thr792Ser) | |
13 | g.108208907T>C | CA388613415 | LIG4 | c.2161A>G (p.Thr721Ala) c.2362A>G (p.Thr788Ala) c.2398A>G (p.Thr800Ala) c.2374A>G (p.Thr792Ala) | |
13 | g.108208907T>G | CA388613417 | LIG4 | c.2161A>C (p.Thr721Pro) c.2362A>C (p.Thr788Pro) c.2398A>C (p.Thr800Pro) c.2374A>C (p.Thr792Pro) | |
13 | g.108208908C>A | CA388613419 | LIG4 | c.2160G>T (p.Gln720His) c.2361G>T (p.Gln787His) c.2397G>T (p.Gln799His) c.2373G>T (p.Gln791His) | |
13 | g.108208908C>G | CA388613420 | LIG4 | c.2160G>C (p.Gln720His) c.2361G>C (p.Gln787His) c.2397G>C (p.Gln799His) c.2373G>C (p.Gln791His) | |
13 | g.108208908C>T | CA484975329 | LIG4 | c.2160G>A (p.Gln720=) c.2361G>A (p.Gln787=) c.2397G>A (p.Gln799=) c.2373G>A (p.Gln791=) | |
13 | g.108208909T>A | CA388613426 | LIG4 | c.2159A>T (p.Gln720Leu) c.2360A>T (p.Gln787Leu) c.2396A>T (p.Gln799Leu) c.2372A>T (p.Gln791Leu) | |
13 | g.108208909T>C | CA388613423 | LIG4 | c.2159A>G (p.Gln720Arg) c.2360A>G (p.Gln787Arg) c.2396A>G (p.Gln799Arg) c.2372A>G (p.Gln791Arg) | |
13 | g.108208909T>G | CA388613424 | LIG4 | c.2159A>C (p.Gln720Pro) c.2360A>C (p.Gln787Pro) c.2396A>C (p.Gln799Pro) c.2372A>C (p.Gln791Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208909T= | CA2117793970 | LIG4 | c.2159A= (p.Gln720=) c.2360A= (p.Gln787=) c.2396A= (p.Gln799=) c.2372A= (p.Gln791=) | |
13 | g.108208910G>A | CA388613428 | LIG4 | c.2158C>T (p.Gln720Ter) c.2359C>T (p.Gln787Ter) c.2395C>T (p.Gln799Ter) c.2371C>T (p.Gln791Ter) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208910G>C | CA388613430 | LIG4 | c.2158C>G (p.Gln720Glu) c.2359C>G (p.Gln787Glu) c.2395C>G (p.Gln799Glu) c.2371C>G (p.Gln791Glu) | |
13 | g.108208910G>T | CA388613431 | LIG4 | c.2158C>A (p.Gln720Lys) c.2359C>A (p.Gln787Lys) c.2395C>A (p.Gln799Lys) c.2371C>A (p.Gln791Lys) | |
13 | g.108208911C>A | CA388613433 | LIG4 | c.2157G>T (p.Glu719Asp) c.2358G>T (p.Glu786Asp) c.2394G>T (p.Glu798Asp) c.2370G>T (p.Glu790Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208911C= | CA2117793971 | LIG4 | c.2157G= (p.Glu719=) c.2358G= (p.Glu786=) c.2394G= (p.Glu798=) c.2370G= (p.Glu790=) | |
13 | g.108208911C>G | CA388613434 | LIG4 | c.2157G>C (p.Glu719Asp) c.2358G>C (p.Glu786Asp) c.2394G>C (p.Glu798Asp) c.2370G>C (p.Glu790Asp) | |
13 | g.108208911C>T | CA256179452 | LIG4 | c.2157G>A (p.Glu719=) c.2358G>A (p.Glu786=) c.2394G>A (p.Glu798=) c.2370G>A (p.Glu790=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208912T>A | CA388613436 | LIG4 | c.2156A>T (p.Glu719Val) c.2357A>T (p.Glu786Val) c.2393A>T (p.Glu798Val) c.2369A>T (p.Glu790Val) | gnomAD v4 |
13 | g.108208912T>C | CA388613438 | LIG4 | c.2156A>G (p.Glu719Gly) c.2357A>G (p.Glu786Gly) c.2393A>G (p.Glu798Gly) c.2369A>G (p.Glu790Gly) | |
13 | g.108208912T>G | CA7043518 | LIG4 | c.2156A>C (p.Glu719Ala) c.2357A>C (p.Glu786Ala) c.2393A>C (p.Glu798Ala) c.2369A>C (p.Glu790Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208912T= | CA2117793972 | LIG4 | c.2156A= (p.Glu719=) c.2357A= (p.Glu786=) c.2393A= (p.Glu798=) c.2369A= (p.Glu790=) | |
13 | g.108208913C>A | CA388613440 | LIG4 | c.2155G>T (p.Glu719Ter) c.2356G>T (p.Glu786Ter) c.2392G>T (p.Glu798Ter) c.2368G>T (p.Glu790Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208913C= | CA2117793973 | LIG4 | c.2155G= (p.Glu719=) c.2356G= (p.Glu786=) c.2392G= (p.Glu798=) c.2368G= (p.Glu790=) | |
13 | g.108208913C>G | CA388613442 | LIG4 | c.2155G>C (p.Glu719Gln) c.2356G>C (p.Glu786Gln) c.2392G>C (p.Glu798Gln) c.2368G>C (p.Glu790Gln) | |
13 | g.108208913C>T | CA7043519 | LIG4 | c.2155G>A (p.Glu719Lys) c.2356G>A (p.Glu786Lys) c.2392G>A (p.Glu798Lys) c.2368G>A (p.Glu790Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208914G>A | CA7043520 | LIG4 | c.2154C>T (p.Asn718=) c.2355C>T (p.Asn785=) c.2391C>T (p.Asn797=) c.2367C>T (p.Asn789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208914G>C | CA388613446 | LIG4 | c.2154C>G (p.Asn718Lys) c.2355C>G (p.Asn785Lys) c.2391C>G (p.Asn797Lys) c.2367C>G (p.Asn789Lys) | |
13 | g.108208914G= | CA2117793974 | LIG4 | c.2154C= (p.Asn718=) c.2355C= (p.Asn785=) c.2391C= (p.Asn797=) c.2367C= (p.Asn789=) | |
13 | g.108208914G>T | CA388613444 | LIG4 | c.2154C>A (p.Asn718Lys) c.2355C>A (p.Asn785Lys) c.2391C>A (p.Asn797Lys) c.2367C>A (p.Asn789Lys) | |
13 | g.108208915T>A | CA388613448 | LIG4 | c.2153A>T (p.Asn718Ile) c.2354A>T (p.Asn785Ile) c.2390A>T (p.Asn797Ile) c.2366A>T (p.Asn789Ile) | |
13 | g.108208915T>C | CA388613450 | LIG4 | c.2153A>G (p.Asn718Ser) c.2354A>G (p.Asn785Ser) c.2390A>G (p.Asn797Ser) c.2366A>G (p.Asn789Ser) | gnomAD v4 |
13 | g.108208915T>G | CA388613451 | LIG4 | c.2153A>C (p.Asn718Thr) c.2354A>C (p.Asn785Thr) c.2390A>C (p.Asn797Thr) c.2366A>C (p.Asn789Thr) | |
13 | g.108208916T>A | CA388613453 | LIG4 | c.2152A>T (p.Asn718Tyr) c.2353A>T (p.Asn785Tyr) c.2389A>T (p.Asn797Tyr) c.2365A>T (p.Asn789Tyr) | |
13 | g.108208916T>C | CA388613455 | LIG4 | c.2152A>G (p.Asn718Asp) c.2353A>G (p.Asn785Asp) c.2389A>G (p.Asn797Asp) c.2365A>G (p.Asn789Asp) | |
13 | g.108208916T>G | CA388613456 | LIG4 | c.2152A>C (p.Asn718His) c.2353A>C (p.Asn785His) c.2389A>C (p.Asn797His) c.2365A>C (p.Asn789His) | |
13 | g.108208917A= | CA2117793975 | LIG4 | c.2151T= (p.Ser717=) c.2352T= (p.Ser784=) c.2388T= (p.Ser796=) c.2364T= (p.Ser788=) | |
13 | g.108208917A>C | CA484975340 | LIG4 | c.2151T>G (p.Ser717=) c.2352T>G (p.Ser784=) c.2388T>G (p.Ser796=) c.2364T>G (p.Ser788=) | |
13 | g.108208917A>G | CA484975343 | LIG4 | c.2151T>C (p.Ser717=) c.2352T>C (p.Ser784=) c.2388T>C (p.Ser796=) c.2364T>C (p.Ser788=) | gnomAD v4 |
13 | g.108208917A>T | CA484975346 | LIG4 | c.2151T>A (p.Ser717=) c.2352T>A (p.Ser784=) c.2388T>A (p.Ser796=) c.2364T>A (p.Ser788=) | dbSNP |
13 | g.108208918G>A | CA388613460 | LIG4 | c.2150C>T (p.Ser717Phe) c.2351C>T (p.Ser784Phe) c.2387C>T (p.Ser796Phe) c.2363C>T (p.Ser788Phe) | |
13 | g.108208918G>C | CA388613458 | LIG4 | c.2150C>G (p.Ser717Cys) c.2351C>G (p.Ser784Cys) c.2387C>G (p.Ser796Cys) c.2363C>G (p.Ser788Cys) | |
13 | g.108208918G>T | CA388613459 | LIG4 | c.2150C>A (p.Ser717Tyr) c.2351C>A (p.Ser784Tyr) c.2387C>A (p.Ser796Tyr) c.2363C>A (p.Ser788Tyr) | |
13 | g.108208919A= | CA2117793976 | LIG4 | c.2149T= (p.Ser717=) c.2350T= (p.Ser784=) c.2386T= (p.Ser796=) c.2362T= (p.Ser788=) | |
13 | g.108208919A>C | CA388613461 | LIG4 | c.2149T>G (p.Ser717Ala) c.2350T>G (p.Ser784Ala) c.2386T>G (p.Ser796Ala) c.2362T>G (p.Ser788Ala) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208919A>G | CA388613462 | LIG4 | c.2149T>C (p.Ser717Pro) c.2350T>C (p.Ser784Pro) c.2386T>C (p.Ser796Pro) c.2362T>C (p.Ser788Pro) | |
13 | g.108208919A>T | CA388613463 | LIG4 | c.2149T>A (p.Ser717Thr) c.2350T>A (p.Ser784Thr) c.2386T>A (p.Ser796Thr) c.2362T>A (p.Ser788Thr) | |
13 | g.108208920A>C | CA388613464 | LIG4 | c.2148T>G (p.Asn716Lys) c.2349T>G (p.Asn783Lys) c.2385T>G (p.Asn795Lys) c.2361T>G (p.Asn787Lys) | gnomAD v4 |
13 | g.108208920A>G | CA484975350 | LIG4 | c.2148T>C (p.Asn716=) c.2349T>C (p.Asn783=) c.2385T>C (p.Asn795=) c.2361T>C (p.Asn787=) | |
13 | g.108208920A>T | CA388613465 | LIG4 | c.2148T>A (p.Asn716Lys) c.2349T>A (p.Asn783Lys) c.2385T>A (p.Asn795Lys) c.2361T>A (p.Asn787Lys) | |
13 | g.108208921T>A | CA388613466 | LIG4 | c.2147A>T (p.Asn716Ile) c.2348A>T (p.Asn783Ile) c.2384A>T (p.Asn795Ile) c.2360A>T (p.Asn787Ile) | |
13 | g.108208921T>C | CA388613468 | LIG4 | c.2147A>G (p.Asn716Ser) c.2348A>G (p.Asn783Ser) c.2384A>G (p.Asn795Ser) c.2360A>G (p.Asn787Ser) | |
13 | g.108208921T>G | CA388613467 | LIG4 | c.2147A>C (p.Asn716Thr) c.2348A>C (p.Asn783Thr) c.2384A>C (p.Asn795Thr) c.2360A>C (p.Asn787Thr) | |
13 | g.108208922T>A | CA388613469 | LIG4 | c.2146A>T (p.Asn716Tyr) c.2347A>T (p.Asn783Tyr) c.2383A>T (p.Asn795Tyr) c.2359A>T (p.Asn787Tyr) | |
13 | g.108208922T>C | CA388613470 | LIG4 | c.2146A>G (p.Asn716Asp) c.2347A>G (p.Asn783Asp) c.2383A>G (p.Asn795Asp) c.2359A>G (p.Asn787Asp) | |
13 | g.108208922T>G | CA388613471 | LIG4 | c.2146A>C (p.Asn716His) c.2347A>C (p.Asn783His) c.2383A>C (p.Asn795His) c.2359A>C (p.Asn787His) | |
13 | g.108208923T>A | CA388613472 | LIG4 | c.2145A>T (p.Lys715Asn) c.2346A>T (p.Lys782Asn) c.2382A>T (p.Lys794Asn) c.2358A>T (p.Lys786Asn) | |
13 | g.108208923T>C | CA484975360 | LIG4 | c.2145A>G (p.Lys715=) c.2346A>G (p.Lys782=) c.2382A>G (p.Lys794=) c.2358A>G (p.Lys786=) | |
13 | g.108208923T>G | CA388613473 | LIG4 | c.2145A>C (p.Lys715Asn) c.2346A>C (p.Lys782Asn) c.2382A>C (p.Lys794Asn) c.2358A>C (p.Lys786Asn) | |
13 | g.108208924T>A | CA388613474 | LIG4 | c.2144A>T (p.Lys715Ile) c.2345A>T (p.Lys782Ile) c.2381A>T (p.Lys794Ile) c.2357A>T (p.Lys786Ile) | |
13 | g.108208924T>C | CA388613475 | LIG4 | c.2144A>G (p.Lys715Arg) c.2345A>G (p.Lys782Arg) c.2381A>G (p.Lys794Arg) c.2357A>G (p.Lys786Arg) | |
13 | g.108208924T>G | CA388613476 | LIG4 | c.2144A>C (p.Lys715Thr) c.2345A>C (p.Lys782Thr) c.2381A>C (p.Lys794Thr) c.2357A>C (p.Lys786Thr) | |
13 | g.108208925T>A | CA388613477 | LIG4 | c.2143A>T (p.Lys715Ter) c.2344A>T (p.Lys782Ter) c.2380A>T (p.Lys794Ter) c.2356A>T (p.Lys786Ter) | |
13 | g.108208925T>C | CA388613478 | LIG4 | c.2143A>G (p.Lys715Glu) c.2344A>G (p.Lys782Glu) c.2380A>G (p.Lys794Glu) c.2356A>G (p.Lys786Glu) | |
13 | g.108208925T>G | CA388613479 | LIG4 | c.2143A>C (p.Lys715Gln) c.2344A>C (p.Lys782Gln) c.2380A>C (p.Lys794Gln) c.2356A>C (p.Lys786Gln) | |
13 | g.108208926A>C | CA388613480 | LIG4 | c.2142T>G (p.Ile714Met) c.2343T>G (p.Ile781Met) c.2379T>G (p.Ile793Met) c.2355T>G (p.Ile785Met) | |
13 | g.108208926A>G | CA484975369 | LIG4 | c.2142T>C (p.Ile714=) c.2343T>C (p.Ile781=) c.2379T>C (p.Ile793=) c.2355T>C (p.Ile785=) | |
13 | g.108208926A>T | CA484975370 | LIG4 | c.2142T>A (p.Ile714=) c.2343T>A (p.Ile781=) c.2379T>A (p.Ile793=) c.2355T>A (p.Ile785=) | |
13 | g.108208927A>C | CA388613481 | LIG4 | c.2141T>G (p.Ile714Ser) c.2342T>G (p.Ile781Ser) c.2378T>G (p.Ile793Ser) c.2354T>G (p.Ile785Ser) | |
13 | g.108208927A>G | CA388613483 | LIG4 | c.2141T>C (p.Ile714Thr) c.2342T>C (p.Ile781Thr) c.2378T>C (p.Ile793Thr) c.2354T>C (p.Ile785Thr) | |
13 | g.108208927A>T | CA388613482 | LIG4 | c.2141T>A (p.Ile714Asn) c.2342T>A (p.Ile781Asn) c.2378T>A (p.Ile793Asn) c.2354T>A (p.Ile785Asn) | |
13 | g.108208928T>A | CA388613484 | LIG4 | c.2140A>T (p.Ile714Phe) c.2341A>T (p.Ile781Phe) c.2377A>T (p.Ile793Phe) c.2353A>T (p.Ile785Phe) | |
13 | g.108208928T>C | CA388613485 | LIG4 | c.2140A>G (p.Ile714Val) c.2341A>G (p.Ile781Val) c.2377A>G (p.Ile793Val) c.2353A>G (p.Ile785Val) | dbSNP |
13 | g.108208928T>G | CA388613486 | LIG4 | c.2140A>C (p.Ile714Leu) c.2341A>C (p.Ile781Leu) c.2377A>C (p.Ile793Leu) c.2353A>C (p.Ile785Leu) | |
13 | g.108208929T>A | CA484975372 | LIG4 | c.2139A>T (p.Gly713=) c.2340A>T (p.Gly780=) c.2376A>T (p.Gly792=) c.2352A>T (p.Gly784=) | |
13 | g.108208929T>C | CA484975374 | LIG4 | c.2139A>G (p.Gly713=) c.2340A>G (p.Gly780=) c.2376A>G (p.Gly792=) c.2352A>G (p.Gly784=) | |
13 | g.108208929T>G | CA484975376 | LIG4 | c.2139A>C (p.Gly713=) c.2340A>C (p.Gly780=) c.2376A>C (p.Gly792=) c.2352A>C (p.Gly784=) | |
13 | g.108208930C>A | CA256179487 | LIG4 | c.2138G>T (p.Gly713Val) c.2339G>T (p.Gly780Val) c.2375G>T (p.Gly792Val) c.2351G>T (p.Gly784Val) | dbSNP gnomAD v4 |
13 | g.108208930C= | CA2117793977 | LIG4 | c.2138G= (p.Gly713=) c.2339G= (p.Gly780=) c.2375G= (p.Gly792=) c.2351G= (p.Gly784=) | |
13 | g.108208930C>G | CA388613487 | LIG4 | c.2138G>C (p.Gly713Ala) c.2339G>C (p.Gly780Ala) c.2375G>C (p.Gly792Ala) c.2351G>C (p.Gly784Ala) | |
13 | g.108208930C>T | CA256179493 | LIG4 | c.2138G>A (p.Gly713Glu) c.2339G>A (p.Gly780Glu) c.2375G>A (p.Gly792Glu) c.2351G>A (p.Gly784Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208931C>A | CA388613488 | LIG4 | c.2137G>T (p.Gly713Ter) c.2338G>T (p.Gly780Ter) c.2374G>T (p.Gly792Ter) c.2350G>T (p.Gly784Ter) | |
13 | g.108208931C>G | CA388613489 | LIG4 | c.2137G>C (p.Gly713Arg) c.2338G>C (p.Gly780Arg) c.2374G>C (p.Gly792Arg) c.2350G>C (p.Gly784Arg) | |
13 | g.108208931C>T | CA388613490 | LIG4 | c.2137G>A (p.Gly713Arg) c.2338G>A (p.Gly780Arg) c.2374G>A (p.Gly792Arg) c.2350G>A (p.Gly784Arg) | |
13 | g.108208932T>A | CA484975379 | LIG4 | c.2136A>T (p.Ser712=) c.2337A>T (p.Ser779=) c.2373A>T (p.Ser791=) c.2349A>T (p.Ser783=) | |
13 | g.108208932T>C | CA484975380 | LIG4 | c.2136A>G (p.Ser712=) c.2337A>G (p.Ser779=) c.2373A>G (p.Ser791=) c.2349A>G (p.Ser783=) | |
13 | g.108208932T>G | CA484975383 | LIG4 | c.2136A>C (p.Ser712=) c.2337A>C (p.Ser779=) c.2373A>C (p.Ser791=) c.2349A>C (p.Ser783=) | |
13 | g.108208933del | CA2580087241 | LIG4 | c.2135del (p.Ser712Ter) c.2336del (p.Ser779Ter) c.2372del (p.Ser791Ter) c.2348del (p.Ser783Ter) | ClinVar |
13 | g.108208933G>A | CA388613491 | LIG4 | c.2135C>T (p.Ser712Leu) c.2336C>T (p.Ser779Leu) c.2372C>T (p.Ser791Leu) c.2348C>T (p.Ser783Leu) | |
13 | g.108208933G>C | CA388613492 | LIG4 | c.2135C>G (p.Ser712Ter) c.2336C>G (p.Ser779Ter) c.2372C>G (p.Ser791Ter) c.2348C>G (p.Ser783Ter) | |
13 | g.108208933G>T | CA388613493 | LIG4 | c.2135C>A (p.Ser712Ter) c.2336C>A (p.Ser779Ter) c.2372C>A (p.Ser791Ter) c.2348C>A (p.Ser783Ter) | |
13 | g.108208934A= | CA2117793978 | LIG4 | c.2134T= (p.Ser712=) c.2335T= (p.Ser779=) c.2371T= (p.Ser791=) c.2347T= (p.Ser783=) | |
13 | g.108208934A>C | CA388613496 | LIG4 | c.2134T>G (p.Ser712Ala) c.2335T>G (p.Ser779Ala) c.2371T>G (p.Ser791Ala) c.2347T>G (p.Ser783Ala) | |
13 | g.108208934A>G | CA388613494 | LIG4 | c.2134T>C (p.Ser712Pro) c.2335T>C (p.Ser779Pro) c.2371T>C (p.Ser791Pro) c.2347T>C (p.Ser783Pro) | |
13 | g.108208934A>T | CA388613495 | LIG4 | c.2134T>A (p.Ser712Thr) c.2335T>A (p.Ser779Thr) c.2371T>A (p.Ser791Thr) c.2347T>A (p.Ser783Thr) | |
13 | g.108208935G>A | CA484975390 | LIG4 | c.2133C>T (p.Phe711=) c.2334C>T (p.Phe778=) c.2370C>T (p.Phe790=) c.2346C>T (p.Phe782=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208935G>C | CA388613497 | LIG4 | c.2133C>G (p.Phe711Leu) c.2334C>G (p.Phe778Leu) c.2370C>G (p.Phe790Leu) c.2346C>G (p.Phe782Leu) | |
13 | g.108208935G= | CA2117793980 | LIG4 | c.2133C= (p.Phe711=) c.2334C= (p.Phe778=) c.2370C= (p.Phe790=) c.2346C= (p.Phe782=) | |
13 | g.108208935G>T | CA388613498 | LIG4 | c.2133C>A (p.Phe711Leu) c.2334C>A (p.Phe778Leu) c.2370C>A (p.Phe790Leu) c.2346C>A (p.Phe782Leu) | |
13 | g.108208935_108208938dup | CA2117793979 | LIG4 | c.2130_2133dup (p.Ser712IlefsTer5) c.2331_2334dup (p.Ser779IlefsTer5) c.2367_2370dup (p.Ser791IlefsTer5) c.2343_2346dup (p.Ser783IlefsTer5) | dbSNP |
13 | g.108208936A>C | CA388613499 | LIG4 | c.2132T>G (p.Phe711Cys) c.2333T>G (p.Phe778Cys) c.2369T>G (p.Phe790Cys) c.2345T>G (p.Phe782Cys) | |
13 | g.108208936A>G | CA388613500 | LIG4 | c.2132T>C (p.Phe711Ser) c.2333T>C (p.Phe778Ser) c.2369T>C (p.Phe790Ser) c.2345T>C (p.Phe782Ser) | gnomAD v4 |
13 | g.108208936A>T | CA388613501 | LIG4 | c.2132T>A (p.Phe711Tyr) c.2333T>A (p.Phe778Tyr) c.2369T>A (p.Phe790Tyr) c.2345T>A (p.Phe782Tyr) | |
13 | g.108208937A= | CA2117793981 | LIG4 | c.2131T= (p.Phe711=) c.2332T= (p.Phe778=) c.2368T= (p.Phe790=) c.2344T= (p.Phe782=) | |
13 | g.108208937A>C | CA256179528 | LIG4 | c.2131T>G (p.Phe711Val) c.2332T>G (p.Phe778Val) c.2368T>G (p.Phe790Val) c.2344T>G (p.Phe782Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208937A>G | CA7043521 | LIG4 | c.2131T>C (p.Phe711Leu) c.2332T>C (p.Phe778Leu) c.2368T>C (p.Phe790Leu) c.2344T>C (p.Phe782Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208937A>T | CA388613502 | LIG4 | c.2131T>A (p.Phe711Ile) c.2332T>A (p.Phe778Ile) c.2368T>A (p.Phe790Ile) c.2344T>A (p.Phe782Ile) | |
13 | g.108208937_108208953del | CA2739277736 | LIG4 | c.2115_2131del (p.Gln706LeufsTer4) c.2316_2332del (p.Gln773LeufsTer4) c.2352_2368del (p.Gln785LeufsTer4) c.2328_2344del (p.Gln777LeufsTer4) | ClinVar |
13 | g.108208938T>A | CA484975395 | LIG4 | c.2130A>T (p.Val710=) c.2331A>T (p.Val777=) c.2367A>T (p.Val789=) c.2343A>T (p.Val781=) | |
13 | g.108208938T>C | CA7043522 | LIG4 | c.2130A>G (p.Val710=) c.2331A>G (p.Val777=) c.2367A>G (p.Val789=) c.2343A>G (p.Val781=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208938T>G | CA484975397 | LIG4 | c.2130A>C (p.Val710=) c.2331A>C (p.Val777=) c.2367A>C (p.Val789=) c.2343A>C (p.Val781=) | |
13 | g.108208938T= | CA2117793982 | LIG4 | c.2130A= (p.Val710=) c.2331A= (p.Val777=) c.2367A= (p.Val789=) c.2343A= (p.Val781=) | |
13 | g.108208939A>C | CA388613503 | LIG4 | c.2129T>G (p.Val710Gly) c.2330T>G (p.Val777Gly) c.2366T>G (p.Val789Gly) c.2342T>G (p.Val781Gly) | |
13 | g.108208939A>G | CA388613504 | LIG4 | c.2129T>C (p.Val710Ala) c.2330T>C (p.Val777Ala) c.2366T>C (p.Val789Ala) c.2342T>C (p.Val781Ala) | |
13 | g.108208939A>T | CA388613505 | LIG4 | c.2129T>A (p.Val710Glu) c.2330T>A (p.Val777Glu) c.2366T>A (p.Val789Glu) c.2342T>A (p.Val781Glu) | |
13 | g.108208940C>A | CA388613507 | LIG4 | c.2128G>T (p.Val710Leu) c.2329G>T (p.Val777Leu) c.2365G>T (p.Val789Leu) c.2341G>T (p.Val781Leu) | |
13 | g.108208940C>G | CA388613508 | LIG4 | c.2128G>C (p.Val710Leu) c.2329G>C (p.Val777Leu) c.2365G>C (p.Val789Leu) c.2341G>C (p.Val781Leu) | |
13 | g.108208940C>T | CA388613506 | LIG4 | c.2128G>A (p.Val710Ile) c.2329G>A (p.Val777Ile) c.2365G>A (p.Val789Ile) c.2341G>A (p.Val781Ile) | |
13 | g.108208941T>A | CA388613510 | LIG4 | c.2127A>T (p.Glu709Asp) c.2328A>T (p.Glu776Asp) c.2364A>T (p.Glu788Asp) c.2340A>T (p.Glu780Asp) | COSMIC |
13 | g.108208941T>C | CA484975402 | LIG4 | c.2127A>G (p.Glu709=) c.2328A>G (p.Glu776=) c.2364A>G (p.Glu788=) c.2340A>G (p.Glu780=) | |
13 | g.108208941T>G | CA388613509 | LIG4 | c.2127A>C (p.Glu709Asp) c.2328A>C (p.Glu776Asp) c.2364A>C (p.Glu788Asp) c.2340A>C (p.Glu780Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208941T= | CA2117793983 | LIG4 | c.2127A= (p.Glu709=) c.2328A= (p.Glu776=) c.2364A= (p.Glu788=) c.2340A= (p.Glu780=) | |
13 | g.108208942T>A | CA388613513 | LIG4 | c.2126A>T (p.Glu709Val) c.2327A>T (p.Glu776Val) c.2363A>T (p.Glu788Val) c.2339A>T (p.Glu780Val) | |
13 | g.108208942T>C | CA388613511 | LIG4 | c.2126A>G (p.Glu709Gly) c.2327A>G (p.Glu776Gly) c.2363A>G (p.Glu788Gly) c.2339A>G (p.Glu780Gly) | |
13 | g.108208942T>G | CA388613512 | LIG4 | c.2126A>C (p.Glu709Ala) c.2327A>C (p.Glu776Ala) c.2363A>C (p.Glu788Ala) c.2339A>C (p.Glu780Ala) | |
13 | g.108208942_108208943delinsTC | CA2117793984 | LIG4 | c.2125_2126delinsGA (p.Glu709=) c.2326_2327delinsGA (p.Glu776=) c.2362_2363delinsGA (p.Glu788=) c.2338_2339delinsGA (p.Glu780=) | |
13 | g.108208943C>A | CA388613514 | LIG4 | c.2125G>T (p.Glu709Ter) c.2326G>T (p.Glu776Ter) c.2362G>T (p.Glu788Ter) c.2338G>T (p.Glu780Ter) | |
13 | g.108208943C>G | CA388613515 | LIG4 | c.2125G>C (p.Glu709Gln) c.2326G>C (p.Glu776Gln) c.2362G>C (p.Glu788Gln) c.2338G>C (p.Glu780Gln) | COSMIC |
13 | g.108208943C>T | CA388613516 | LIG4 | c.2125G>A (p.Glu709Lys) c.2326G>A (p.Glu776Lys) c.2362G>A (p.Glu788Lys) c.2338G>A (p.Glu780Lys) | |
13 | g.108208944del | CA7043523 | LIG4 | c.2125del (p.Glu709LysfsTer20) c.2326del (p.Glu776LysfsTer20) c.2362del (p.Glu788LysfsTer20) c.2338del (p.Glu780LysfsTer20) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208944C>A | CA388613518 | LIG4 | c.2124G>T (p.Lys708Asn) c.2325G>T (p.Lys775Asn) c.2361G>T (p.Lys787Asn) c.2337G>T (p.Lys779Asn) | |
13 | g.108208944C>G | CA388613517 | LIG4 | c.2124G>C (p.Lys708Asn) c.2325G>C (p.Lys775Asn) c.2361G>C (p.Lys787Asn) c.2337G>C (p.Lys779Asn) | |
13 | g.108208944C>T | CA484975410 | LIG4 | c.2124G>A (p.Lys708=) c.2325G>A (p.Lys775=) c.2361G>A (p.Lys787=) c.2337G>A (p.Lys779=) | |
13 | g.108208945T>A | CA388613519 | LIG4 | c.2123A>T (p.Lys708Met) c.2324A>T (p.Lys775Met) c.2360A>T (p.Lys787Met) c.2336A>T (p.Lys779Met) | COSMIC |
13 | g.108208945T>C | CA388613520 | LIG4 | c.2123A>G (p.Lys708Arg) c.2324A>G (p.Lys775Arg) c.2360A>G (p.Lys787Arg) c.2336A>G (p.Lys779Arg) | |
13 | g.108208945T>G | CA388613521 | LIG4 | c.2123A>C (p.Lys708Thr) c.2324A>C (p.Lys775Thr) c.2360A>C (p.Lys787Thr) c.2336A>C (p.Lys779Thr) | |
13 | g.108208946T>A | CA388613522 | LIG4 | c.2122A>T (p.Lys708Ter) c.2323A>T (p.Lys775Ter) c.2359A>T (p.Lys787Ter) c.2335A>T (p.Lys779Ter) | |
13 | g.108208946T>C | CA388613523 | LIG4 | c.2122A>G (p.Lys708Glu) c.2323A>G (p.Lys775Glu) c.2359A>G (p.Lys787Glu) c.2335A>G (p.Lys779Glu) | |
13 | g.108208946T>G | CA388613524 | LIG4 | c.2122A>C (p.Lys708Gln) c.2323A>C (p.Lys775Gln) c.2359A>C (p.Lys787Gln) c.2335A>C (p.Lys779Gln) | |
13 | g.108208947C>A | CA484975415 | LIG4 | c.2121G>T (p.Leu707=) c.2322G>T (p.Leu774=) c.2358G>T (p.Leu786=) c.2334G>T (p.Leu778=) | |
13 | g.108208947C>G | CA484975416 | LIG4 | c.2121G>C (p.Leu707=) c.2322G>C (p.Leu774=) c.2358G>C (p.Leu786=) c.2334G>C (p.Leu778=) | |
13 | g.108208947C>T | CA484975418 | LIG4 | c.2121G>A (p.Leu707=) c.2322G>A (p.Leu774=) c.2358G>A (p.Leu786=) c.2334G>A (p.Leu778=) | gnomAD v4 |
13 | g.108208948A= | CA2117793985 | LIG4 | c.2120T= (p.Leu707=) c.2321T= (p.Leu774=) c.2357T= (p.Leu786=) c.2333T= (p.Leu778=) | |
13 | g.108208948A>C | CA388613525 | LIG4 | c.2120T>G (p.Leu707Arg) c.2321T>G (p.Leu774Arg) c.2357T>G (p.Leu786Arg) c.2333T>G (p.Leu778Arg) | |
13 | g.108208948A>G | CA16609403 | LIG4 | c.2120T>C (p.Leu707Pro) c.2321T>C (p.Leu774Pro) c.2357T>C (p.Leu786Pro) c.2333T>C (p.Leu778Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.108208948A>T | CA388613526 | LIG4 | c.2120T>A (p.Leu707Gln) c.2321T>A (p.Leu774Gln) c.2357T>A (p.Leu786Gln) c.2333T>A (p.Leu778Gln) | |
13 | g.108208949G>A | CA256179578 | LIG4 | c.2119C>T (p.Leu707=) c.2320C>T (p.Leu774=) c.2356C>T (p.Leu786=) c.2332C>T (p.Leu778=) | ClinVar dbSNP |
13 | g.108208949G>C | CA7043524 | LIG4 | c.2119C>G (p.Leu707Val) c.2320C>G (p.Leu774Val) c.2356C>G (p.Leu786Val) c.2332C>G (p.Leu778Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208949G= | CA2117793986 | LIG4 | c.2119C= (p.Leu707=) c.2320C= (p.Leu774=) c.2356C= (p.Leu786=) c.2332C= (p.Leu778=) | |
13 | g.108208949G>T | CA388613527 | LIG4 | c.2119C>A (p.Leu707Met) c.2320C>A (p.Leu774Met) c.2356C>A (p.Leu786Met) c.2332C>A (p.Leu778Met) | |
13 | g.108208950T>A | CA388613528 | LIG4 | c.2118A>T (p.Gln706His) c.2319A>T (p.Gln773His) c.2355A>T (p.Gln785His) c.2331A>T (p.Gln777His) | |
13 | g.108208950T>C | CA484975421 | LIG4 | c.2118A>G (p.Gln706=) c.2319A>G (p.Gln773=) c.2355A>G (p.Gln785=) c.2331A>G (p.Gln777=) | ClinVar dbSNP gnomAD v4 |
13 | g.108208950T>G | CA388613529 | LIG4 | c.2118A>C (p.Gln706His) c.2319A>C (p.Gln773His) c.2355A>C (p.Gln785His) c.2331A>C (p.Gln777His) | |
13 | g.108208950T= | CA2117793987 | LIG4 | c.2118A= (p.Gln706=) c.2319A= (p.Gln773=) c.2355A= (p.Gln785=) c.2331A= (p.Gln777=) | |
13 | g.108208951T>A | CA388613530 | LIG4 | c.2117A>T (p.Gln706Leu) c.2318A>T (p.Gln773Leu) c.2354A>T (p.Gln785Leu) c.2330A>T (p.Gln777Leu) | |
13 | g.108208951T>C | CA388613531 | LIG4 | c.2117A>G (p.Gln706Arg) c.2318A>G (p.Gln773Arg) c.2354A>G (p.Gln785Arg) c.2330A>G (p.Gln777Arg) | |
13 | g.108208951T>G | CA388613532 | LIG4 | c.2117A>C (p.Gln706Pro) c.2318A>C (p.Gln773Pro) c.2354A>C (p.Gln785Pro) c.2330A>C (p.Gln777Pro) | |
13 | g.108208952G>A | CA388613533 | LIG4 | c.2116C>T (p.Gln706Ter) c.2317C>T (p.Gln773Ter) c.2353C>T (p.Gln785Ter) c.2329C>T (p.Gln777Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208952G>C | CA388613534 | LIG4 | c.2116C>G (p.Gln706Glu) c.2317C>G (p.Gln773Glu) c.2353C>G (p.Gln785Glu) c.2329C>G (p.Gln777Glu) | |
13 | g.108208952G= | CA2117793988 | LIG4 | c.2116C= (p.Gln706=) c.2317C= (p.Gln773=) c.2353C= (p.Gln785=) c.2329C= (p.Gln777=) | |
13 | g.108208952G>T | CA388613535 | LIG4 | c.2116C>A (p.Gln706Lys) c.2317C>A (p.Gln773Lys) c.2353C>A (p.Gln785Lys) c.2329C>A (p.Gln777Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208953G>A | CA256179613 | LIG4 | c.2115C>T (p.Asn705=) c.2316C>T (p.Asn772=) c.2352C>T (p.Asn784=) c.2328C>T (p.Asn776=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208953G>C | CA256179621 | LIG4 | c.2115C>G (p.Asn705Lys) c.2316C>G (p.Asn772Lys) c.2352C>G (p.Asn784Lys) c.2328C>G (p.Asn776Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208953G= | CA2117793989 | LIG4 | c.2115C= (p.Asn705=) c.2316C= (p.Asn772=) c.2352C= (p.Asn784=) c.2328C= (p.Asn776=) | |
13 | g.108208953G>T | CA388613536 | LIG4 | c.2115C>A (p.Asn705Lys) c.2316C>A (p.Asn772Lys) c.2352C>A (p.Asn784Lys) c.2328C>A (p.Asn776Lys) | gnomAD v4 |
13 | g.108208954T>A | CA388613537 | LIG4 | c.2114A>T (p.Asn705Ile) c.2315A>T (p.Asn772Ile) c.2351A>T (p.Asn784Ile) c.2327A>T (p.Asn776Ile) | |
13 | g.108208954T>C | CA388613538 | LIG4 | c.2114A>G (p.Asn705Ser) c.2315A>G (p.Asn772Ser) c.2351A>G (p.Asn784Ser) c.2327A>G (p.Asn776Ser) | |
13 | g.108208954T>G | CA388613539 | LIG4 | c.2114A>C (p.Asn705Thr) c.2315A>C (p.Asn772Thr) c.2351A>C (p.Asn784Thr) c.2327A>C (p.Asn776Thr) | |
13 | g.108208955T>A | CA7043525 | LIG4 | c.2113A>T (p.Asn705Tyr) c.2314A>T (p.Asn772Tyr) c.2350A>T (p.Asn784Tyr) c.2326A>T (p.Asn776Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208955T>C | CA388613540 | LIG4 | c.2113A>G (p.Asn705Asp) c.2314A>G (p.Asn772Asp) c.2350A>G (p.Asn784Asp) c.2326A>G (p.Asn776Asp) | |
13 | g.108208955T>G | CA388613541 | LIG4 | c.2113A>C (p.Asn705His) c.2314A>C (p.Asn772His) c.2350A>C (p.Asn784His) c.2326A>C (p.Asn776His) | |
13 | g.108208955T= | CA2117793990 | LIG4 | c.2113A= (p.Asn705=) c.2314A= (p.Asn772=) c.2350A= (p.Asn784=) c.2326A= (p.Asn776=) | |
13 | g.108208956C>A | CA388613542 | LIG4 | c.2112G>T (p.Leu704Phe) c.2313G>T (p.Leu771Phe) c.2349G>T (p.Leu783Phe) c.2325G>T (p.Leu775Phe) | |
13 | g.108208956C>G | CA388613543 | LIG4 | c.2112G>C (p.Leu704Phe) c.2313G>C (p.Leu771Phe) c.2349G>C (p.Leu783Phe) c.2325G>C (p.Leu775Phe) | gnomAD v4 |
13 | g.108208956C>T | CA484975429 | LIG4 | c.2112G>A (p.Leu704=) c.2313G>A (p.Leu771=) c.2349G>A (p.Leu783=) c.2325G>A (p.Leu775=) | |
13 | g.108208957A>C | CA388613544 | LIG4 | c.2111T>G (p.Leu704Trp) c.2312T>G (p.Leu771Trp) c.2348T>G (p.Leu783Trp) c.2324T>G (p.Leu775Trp) | |
13 | g.108208957A>G | CA388613545 | LIG4 | c.2111T>C (p.Leu704Ser) c.2312T>C (p.Leu771Ser) c.2348T>C (p.Leu783Ser) c.2324T>C (p.Leu775Ser) | |
13 | g.108208957A>T | CA388613546 | LIG4 | c.2111T>A (p.Leu704Ter) c.2312T>A (p.Leu771Ter) c.2348T>A (p.Leu783Ter) c.2324T>A (p.Leu775Ter) | |
13 | g.108208958A>C | CA388613547 | LIG4 | c.2110T>G (p.Leu704Val) c.2311T>G (p.Leu771Val) c.2347T>G (p.Leu783Val) c.2323T>G (p.Leu775Val) | |
13 | g.108208958A>G | CA484975436 | LIG4 | c.2110T>C (p.Leu704=) c.2311T>C (p.Leu771=) c.2347T>C (p.Leu783=) c.2323T>C (p.Leu775=) | |
13 | g.108208958A>T | CA388613548 | LIG4 | c.2110T>A (p.Leu704Met) c.2311T>A (p.Leu771Met) c.2347T>A (p.Leu783Met) c.2323T>A (p.Leu775Met) | |
13 | g.108208959G>A | CA7043526 | LIG4 | c.2109C>T (p.Asp703=) c.2310C>T (p.Asp770=) c.2346C>T (p.Asp782=) c.2322C>T (p.Asp774=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208959G>C | CA388613549 | LIG4 | c.2109C>G (p.Asp703Glu) c.2310C>G (p.Asp770Glu) c.2346C>G (p.Asp782Glu) c.2322C>G (p.Asp774Glu) | |
13 | g.108208959G= | CA2117793991 | LIG4 | c.2109C= (p.Asp703=) c.2310C= (p.Asp770=) c.2346C= (p.Asp782=) c.2322C= (p.Asp774=) | |
13 | g.108208959G>T | CA388613550 | LIG4 | c.2109C>A (p.Asp703Glu) c.2310C>A (p.Asp770Glu) c.2346C>A (p.Asp782Glu) c.2322C>A (p.Asp774Glu) | |
13 | g.108208960T>A | CA388613551 | LIG4 | c.2108A>T (p.Asp703Val) c.2309A>T (p.Asp770Val) c.2345A>T (p.Asp782Val) c.2321A>T (p.Asp774Val) | |
13 | g.108208960T>C | CA388613552 | LIG4 | c.2108A>G (p.Asp703Gly) c.2309A>G (p.Asp770Gly) c.2345A>G (p.Asp782Gly) c.2321A>G (p.Asp774Gly) | |
13 | g.108208960T>G | CA388613553 | LIG4 | c.2108A>C (p.Asp703Ala) c.2309A>C (p.Asp770Ala) c.2345A>C (p.Asp782Ala) c.2321A>C (p.Asp774Ala) | |
13 | g.108208961C>A | CA388613554 | LIG4 | c.2107G>T (p.Asp703Tyr) c.2308G>T (p.Asp770Tyr) c.2344G>T (p.Asp782Tyr) c.2320G>T (p.Asp774Tyr) | |
13 | g.108208961C>G | CA388613555 | LIG4 | c.2107G>C (p.Asp703His) c.2308G>C (p.Asp770His) c.2344G>C (p.Asp782His) c.2320G>C (p.Asp774His) | |
13 | g.108208961C>T | CA388613556 | LIG4 | c.2107G>A (p.Asp703Asn) c.2308G>A (p.Asp770Asn) c.2344G>A (p.Asp782Asn) c.2320G>A (p.Asp774Asn) | |
13 | g.108208962T>A | CA484975444 | LIG4 | c.2106A>T (p.Thr702=) c.2307A>T (p.Thr769=) c.2343A>T (p.Thr781=) c.2319A>T (p.Thr773=) | |
13 | g.108208962T>C | CA484975449 | LIG4 | c.2106A>G (p.Thr702=) c.2307A>G (p.Thr769=) c.2343A>G (p.Thr781=) c.2319A>G (p.Thr773=) | |
13 | g.108208962T>G | CA484975448 | LIG4 | c.2106A>C (p.Thr702=) c.2307A>C (p.Thr769=) c.2343A>C (p.Thr781=) c.2319A>C (p.Thr773=) | |
13 | g.108208963G>A | CA7043527 | LIG4 | c.2105C>T (p.Thr702Ile) c.2306C>T (p.Thr769Ile) c.2342C>T (p.Thr781Ile) c.2318C>T (p.Thr773Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208963G>C | CA388613557 | LIG4 | c.2105C>G (p.Thr702Arg) c.2306C>G (p.Thr769Arg) c.2342C>G (p.Thr781Arg) c.2318C>G (p.Thr773Arg) | |
13 | g.108208963G= | CA2117793992 | LIG4 | c.2105C= (p.Thr702=) c.2306C= (p.Thr769=) c.2342C= (p.Thr781=) c.2318C= (p.Thr773=) | |
13 | g.108208963G>T | CA388613558 | LIG4 | c.2105C>A (p.Thr702Lys) c.2306C>A (p.Thr769Lys) c.2342C>A (p.Thr781Lys) c.2318C>A (p.Thr773Lys) | gnomAD v4 |
13 | g.108208964T>A | CA388613559 | LIG4 | c.2104A>T (p.Thr702Ser) c.2305A>T (p.Thr769Ser) c.2341A>T (p.Thr781Ser) c.2317A>T (p.Thr773Ser) | |
13 | g.108208964T>C | CA7043528 | LIG4 | c.2104A>G (p.Thr702Ala) c.2305A>G (p.Thr769Ala) c.2341A>G (p.Thr781Ala) c.2317A>G (p.Thr773Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.108208964T>G | CA388613560 | LIG4 | c.2104A>C (p.Thr702Pro) c.2305A>C (p.Thr769Pro) c.2341A>C (p.Thr781Pro) c.2317A>C (p.Thr773Pro) | |
13 | g.108208964T= | CA2117793993 | LIG4 | c.2104A= (p.Thr702=) c.2305A= (p.Thr769=) c.2341A= (p.Thr781=) c.2317A= (p.Thr773=) | |
13 | g.108208964dup | CA916082384 | LIG4 | c.2104dup (p.Thr702AsnfsTer14) c.2305dup (p.Thr769AsnfsTer14) c.2341dup (p.Thr781AsnfsTer14) c.2317dup (p.Thr773AsnfsTer14) | ClinVar dbSNP |
13 | g.108208965A= | CA2117793994 | LIG4 | c.2103T= (p.Asp701=) c.2304T= (p.Asp768=) c.2340T= (p.Asp780=) c.2316T= (p.Asp772=) | |
13 | g.108208965A>C | CA256179676 | LIG4 | c.2103T>G (p.Asp701Glu) c.2304T>G (p.Asp768Glu) c.2340T>G (p.Asp780Glu) c.2316T>G (p.Asp772Glu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208965A>G | CA484974935 | LIG4 | c.2103T>C (p.Asp701=) c.2304T>C (p.Asp768=) c.2340T>C (p.Asp780=) c.2316T>C (p.Asp772=) | |
13 | g.108208965A>T | CA388613561 | LIG4 | c.2103T>A (p.Asp701Glu) c.2304T>A (p.Asp768Glu) c.2340T>A (p.Asp780Glu) c.2316T>A (p.Asp772Glu) | |
13 | g.108208966T>A | CA388613562 | LIG4 | c.2102A>T (p.Asp701Val) c.2303A>T (p.Asp768Val) c.2339A>T (p.Asp780Val) c.2315A>T (p.Asp772Val) | |
13 | g.108208966T>C | CA388613564 | LIG4 | c.2102A>G (p.Asp701Gly) c.2303A>G (p.Asp768Gly) c.2339A>G (p.Asp780Gly) c.2315A>G (p.Asp772Gly) | |
13 | g.108208966T>G | CA388613563 | LIG4 | c.2102A>C (p.Asp701Ala) c.2303A>C (p.Asp768Ala) c.2339A>C (p.Asp780Ala) c.2315A>C (p.Asp772Ala) | gnomAD v4 |
13 | g.108208967C>A | CA388613565 | LIG4 | c.2101G>T (p.Asp701Tyr) c.2302G>T (p.Asp768Tyr) c.2338G>T (p.Asp780Tyr) c.2314G>T (p.Asp772Tyr) | |
13 | g.108208967C>G | CA388613566 | LIG4 | c.2101G>C (p.Asp701His) c.2302G>C (p.Asp768His) c.2338G>C (p.Asp780His) c.2314G>C (p.Asp772His) | gnomAD v4 |
13 | g.108208967C>T | CA388613567 | LIG4 | c.2101G>A (p.Asp701Asn) c.2302G>A (p.Asp768Asn) c.2338G>A (p.Asp780Asn) c.2314G>A (p.Asp772Asn) | |
13 | g.108208968A= | CA2117793995 | LIG4 | c.2100T= (p.Ile700=) c.2301T= (p.Ile767=) c.2337T= (p.Ile779=) c.2313T= (p.Ile771=) | |
13 | g.108208968A>C | CA388613568 | LIG4 | c.2100T>G (p.Ile700Met) c.2301T>G (p.Ile767Met) c.2337T>G (p.Ile779Met) c.2313T>G (p.Ile771Met) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208968A>G | CA484974937 | LIG4 | c.2100T>C (p.Ile700=) c.2301T>C (p.Ile767=) c.2337T>C (p.Ile779=) c.2313T>C (p.Ile771=) | |
13 | g.108208968A>T | CA484974938 | LIG4 | c.2100T>A (p.Ile700=) c.2301T>A (p.Ile767=) c.2337T>A (p.Ile779=) c.2313T>A (p.Ile771=) | |
13 | g.108208969A= | CA2117793996 | LIG4 | c.2099T= (p.Ile700=) c.2300T= (p.Ile767=) c.2336T= (p.Ile779=) c.2312T= (p.Ile771=) | |
13 | g.108208969A>C | CA388613569 | LIG4 | c.2099T>G (p.Ile700Ser) c.2300T>G (p.Ile767Ser) c.2336T>G (p.Ile779Ser) c.2312T>G (p.Ile771Ser) | |
13 | g.108208969A>G | CA7043529 | LIG4 | c.2099T>C (p.Ile700Thr) c.2300T>C (p.Ile767Thr) c.2336T>C (p.Ile779Thr) c.2312T>C (p.Ile771Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208969A>T | CA388613570 | LIG4 | c.2099T>A (p.Ile700Asn) c.2300T>A (p.Ile767Asn) c.2336T>A (p.Ile779Asn) c.2312T>A (p.Ile771Asn) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208970T>A | CA388613571 | LIG4 | c.2098A>T (p.Ile700Phe) c.2299A>T (p.Ile767Phe) c.2335A>T (p.Ile779Phe) c.2311A>T (p.Ile771Phe) | |
13 | g.108208970T>C | CA7043530 | LIG4 | c.2098A>G (p.Ile700Val) c.2299A>G (p.Ile767Val) c.2335A>G (p.Ile779Val) c.2311A>G (p.Ile771Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208970T>G | CA388613572 | LIG4 | c.2098A>C (p.Ile700Leu) c.2299A>C (p.Ile767Leu) c.2335A>C (p.Ile779Leu) c.2311A>C (p.Ile771Leu) | |
13 | g.108208970T= | CA2117793997 | LIG4 | c.2098A= (p.Ile700=) c.2299A= (p.Ile767=) c.2335A= (p.Ile779=) c.2311A= (p.Ile771=) | |
13 | g.108208971G>A | CA484974942 | LIG4 | c.2097C>T (p.Phe699=) c.2298C>T (p.Phe766=) c.2334C>T (p.Phe778=) c.2310C>T (p.Phe770=) | |
13 | g.108208971G>C | CA388613573 | LIG4 | c.2097C>G (p.Phe699Leu) c.2298C>G (p.Phe766Leu) c.2334C>G (p.Phe778Leu) c.2310C>G (p.Phe770Leu) | gnomAD v4 |
13 | g.108208971G>T | CA388613574 | LIG4 | c.2097C>A (p.Phe699Leu) c.2298C>A (p.Phe766Leu) c.2334C>A (p.Phe778Leu) c.2310C>A (p.Phe770Leu) | |
13 | g.108208972A>C | CA388613577 | LIG4 | c.2096T>G (p.Phe699Cys) c.2297T>G (p.Phe766Cys) c.2333T>G (p.Phe778Cys) c.2309T>G (p.Phe770Cys) | |
13 | g.108208972A>G | CA388613575 | LIG4 | c.2096T>C (p.Phe699Ser) c.2297T>C (p.Phe766Ser) c.2333T>C (p.Phe778Ser) c.2309T>C (p.Phe770Ser) | |
13 | g.108208972A>T | CA388613576 | LIG4 | c.2096T>A (p.Phe699Tyr) c.2297T>A (p.Phe766Tyr) c.2333T>A (p.Phe778Tyr) c.2309T>A (p.Phe770Tyr) | |
13 | g.108208973A= | CA2117793998 | LIG4 | c.2095T= (p.Phe699=) c.2296T= (p.Phe766=) c.2332T= (p.Phe778=) c.2308T= (p.Phe770=) | |
13 | g.108208973A>C | CA388613578 | LIG4 | c.2095T>G (p.Phe699Val) c.2296T>G (p.Phe766Val) c.2332T>G (p.Phe778Val) c.2308T>G (p.Phe770Val) | |
13 | g.108208973A>G | CA388613579 | LIG4 | c.2095T>C (p.Phe699Leu) c.2296T>C (p.Phe766Leu) c.2332T>C (p.Phe778Leu) c.2308T>C (p.Phe770Leu) | |
13 | g.108208973A>T | CA388613580 | LIG4 | c.2095T>A (p.Phe699Ile) c.2296T>A (p.Phe766Ile) c.2332T>A (p.Phe778Ile) c.2308T>A (p.Phe770Ile) | dbSNP |
13 | g.108208974A= | CA2117793999 | LIG4 | c.2094T= (p.Tyr698=) c.2295T= (p.Tyr765=) c.2331T= (p.Tyr777=) c.2307T= (p.Tyr769=) | |
13 | g.108208974A>C | CA388613581 | LIG4 | c.2094T>G (p.Tyr698Ter) c.2295T>G (p.Tyr765Ter) c.2331T>G (p.Tyr777Ter) c.2307T>G (p.Tyr769Ter) | |
13 | g.108208974A>G | CA484974946 | LIG4 | c.2094T>C (p.Tyr698=) c.2295T>C (p.Tyr765=) c.2331T>C (p.Tyr777=) c.2307T>C (p.Tyr769=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208974A>T | CA388613582 | LIG4 | c.2094T>A (p.Tyr698Ter) c.2295T>A (p.Tyr765Ter) c.2331T>A (p.Tyr777Ter) c.2307T>A (p.Tyr769Ter) | |
13 | g.108208975T>A | CA388613583 | LIG4 | c.2093A>T (p.Tyr698Phe) c.2294A>T (p.Tyr765Phe) c.2330A>T (p.Tyr777Phe) c.2306A>T (p.Tyr769Phe) | |
13 | g.108208975T>C | CA388613584 | LIG4 | c.2093A>G (p.Tyr698Cys) c.2294A>G (p.Tyr765Cys) c.2330A>G (p.Tyr777Cys) c.2306A>G (p.Tyr769Cys) | |
13 | g.108208975T>G | CA388613585 | LIG4 | c.2093A>C (p.Tyr698Ser) c.2294A>C (p.Tyr765Ser) c.2330A>C (p.Tyr777Ser) c.2306A>C (p.Tyr769Ser) | |
13 | g.108208976A>C | CA388613586 | LIG4 | c.2092T>G (p.Tyr698Asp) c.2293T>G (p.Tyr765Asp) c.2329T>G (p.Tyr777Asp) c.2305T>G (p.Tyr769Asp) | |
13 | g.108208976A>G | CA388613587 | LIG4 | c.2092T>C (p.Tyr698His) c.2293T>C (p.Tyr765His) c.2329T>C (p.Tyr777His) c.2305T>C (p.Tyr769His) | |
13 | g.108208976A>T | CA388613588 | LIG4 | c.2092T>A (p.Tyr698Asn) c.2293T>A (p.Tyr765Asn) c.2329T>A (p.Tyr777Asn) c.2305T>A (p.Tyr769Asn) | |
13 | g.108208977A>C | CA388613590 | LIG4 | c.2091T>G (p.Ser697Arg) c.2292T>G (p.Ser764Arg) c.2328T>G (p.Ser776Arg) c.2304T>G (p.Ser768Arg) | |
13 | g.108208977A>G | CA484974948 | LIG4 | c.2091T>C (p.Ser697=) c.2292T>C (p.Ser764=) c.2328T>C (p.Ser776=) c.2304T>C (p.Ser768=) | ClinVar dbSNP |
13 | g.108208977A>T | CA388613589 | LIG4 | c.2091T>A (p.Ser697Arg) c.2292T>A (p.Ser764Arg) c.2328T>A (p.Ser776Arg) c.2304T>A (p.Ser768Arg) | |
13 | g.108208978C>A | CA388613591 | LIG4 | c.2090G>T (p.Ser697Ile) c.2291G>T (p.Ser764Ile) c.2327G>T (p.Ser776Ile) c.2303G>T (p.Ser768Ile) | gnomAD v4 |
13 | g.108208978C>G | CA388613592 | LIG4 | c.2090G>C (p.Ser697Thr) c.2291G>C (p.Ser764Thr) c.2327G>C (p.Ser776Thr) c.2303G>C (p.Ser768Thr) | |
13 | g.108208978C>T | CA388613593 | LIG4 | c.2090G>A (p.Ser697Asn) c.2291G>A (p.Ser764Asn) c.2327G>A (p.Ser776Asn) c.2303G>A (p.Ser768Asn) | gnomAD v4 |
13 | g.108208978_108208980delinsCTA | CA2117794000 | LIG4 | c.2088_2090delinsTAG (p.Asp696=) c.2289_2291delinsTAG (p.Asp763=) c.2325_2327delinsTAG (p.Asp775=) c.2301_2303delinsTAG (p.Asp767=) | |
13 | g.108208979T>A | CA388613594 | LIG4 | c.2089A>T (p.Ser697Cys) c.2290A>T (p.Ser764Cys) c.2326A>T (p.Ser776Cys) c.2302A>T (p.Ser768Cys) | |
13 | g.108208979T>C | CA388613595 | LIG4 | c.2089A>G (p.Ser697Gly) c.2290A>G (p.Ser764Gly) c.2326A>G (p.Ser776Gly) c.2302A>G (p.Ser768Gly) | gnomAD v4 |
13 | g.108208979T>G | CA388613596 | LIG4 | c.2089A>C (p.Ser697Arg) c.2290A>C (p.Ser764Arg) c.2326A>C (p.Ser776Arg) c.2302A>C (p.Ser768Arg) | |
13 | g.108208980_108208981del | CA694833682 | LIG4 | c.2088_2089del (p.Asp696GlufsTer5) c.2289_2290del (p.Asp763GlufsTer5) c.2325_2326del (p.Asp775GlufsTer5) c.2301_2302del (p.Asp767GlufsTer5) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208980A= | CA2117794001 | LIG4 | c.2088T= (p.Asp696=) c.2289T= (p.Asp763=) c.2325T= (p.Asp775=) c.2301T= (p.Asp767=) | |
13 | g.108208980A>C | CA388613597 | LIG4 | c.2088T>G (p.Asp696Glu) c.2289T>G (p.Asp763Glu) c.2325T>G (p.Asp775Glu) c.2301T>G (p.Asp767Glu) | |
13 | g.108208980A>G | CA484974950 | LIG4 | c.2088T>C (p.Asp696=) c.2289T>C (p.Asp763=) c.2325T>C (p.Asp775=) c.2301T>C (p.Asp767=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208980A>T | CA388613598 | LIG4 | c.2088T>A (p.Asp696Glu) c.2289T>A (p.Asp763Glu) c.2325T>A (p.Asp775Glu) c.2301T>A (p.Asp767Glu) | |
13 | g.108208981T>A | CA388613599 | LIG4 | c.2087A>T (p.Asp696Val) c.2288A>T (p.Asp763Val) c.2324A>T (p.Asp775Val) c.2300A>T (p.Asp767Val) | |
13 | g.108208981T>C | CA388613600 | LIG4 | c.2087A>G (p.Asp696Gly) c.2288A>G (p.Asp763Gly) c.2324A>G (p.Asp775Gly) c.2300A>G (p.Asp767Gly) | |
13 | g.108208981T>G | CA388613601 | LIG4 | c.2087A>C (p.Asp696Ala) c.2288A>C (p.Asp763Ala) c.2324A>C (p.Asp775Ala) c.2300A>C (p.Asp767Ala) | ClinVar |
13 | g.108208982C>A | CA388613602 | LIG4 | c.2086G>T (p.Asp696Tyr) c.2287G>T (p.Asp763Tyr) c.2323G>T (p.Asp775Tyr) c.2299G>T (p.Asp767Tyr) | |
13 | g.108208982C>G | CA388613603 | LIG4 | c.2086G>C (p.Asp696His) c.2287G>C (p.Asp763His) c.2323G>C (p.Asp775His) c.2299G>C (p.Asp767His) | |
13 | g.108208982C>T | CA388613604 | LIG4 | c.2086G>A (p.Asp696Asn) c.2287G>A (p.Asp763Asn) c.2323G>A (p.Asp775Asn) c.2299G>A (p.Asp767Asn) | |
13 | g.108208983A= | CA2117794002 | LIG4 | c.2085T= (p.Gly695=) c.2286T= (p.Gly762=) c.2322T= (p.Gly774=) c.2298T= (p.Gly766=) | |
13 | g.108208983A>C | CA484974955 | LIG4 | c.2085T>G (p.Gly695=) c.2286T>G (p.Gly762=) c.2322T>G (p.Gly774=) c.2298T>G (p.Gly766=) | |
13 | g.108208983A>G | CA7043531 | LIG4 | c.2085T>C (p.Gly695=) c.2286T>C (p.Gly762=) c.2322T>C (p.Gly774=) c.2298T>C (p.Gly766=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208983A>T | CA484974957 | LIG4 | c.2085T>A (p.Gly695=) c.2286T>A (p.Gly762=) c.2322T>A (p.Gly774=) c.2298T>A (p.Gly766=) | |
13 | g.108208984C>A | CA388613605 | LIG4 | c.2084G>T (p.Gly695Val) c.2285G>T (p.Gly762Val) c.2321G>T (p.Gly774Val) c.2297G>T (p.Gly766Val) | gnomAD v4 |
13 | g.108208984C= | CA2117794003 | LIG4 | c.2084G= (p.Gly695=) c.2285G= (p.Gly762=) c.2321G= (p.Gly774=) c.2297G= (p.Gly766=) | |
13 | g.108208984C>G | CA256179701 | LIG4 | c.2084G>C (p.Gly695Ala) c.2285G>C (p.Gly762Ala) c.2321G>C (p.Gly774Ala) c.2297G>C (p.Gly766Ala) | dbSNP |
13 | g.108208984C>T | CA388613606 | LIG4 | c.2084G>A (p.Gly695Asp) c.2285G>A (p.Gly762Asp) c.2321G>A (p.Gly774Asp) c.2297G>A (p.Gly766Asp) | |
13 | g.108208985C>A | CA388613607 | LIG4 | c.2083G>T (p.Gly695Cys) c.2284G>T (p.Gly762Cys) c.2320G>T (p.Gly774Cys) c.2296G>T (p.Gly766Cys) | |
13 | g.108208985C= | CA2117794004 | LIG4 | c.2083G= (p.Gly695=) c.2284G= (p.Gly762=) c.2320G= (p.Gly774=) c.2296G= (p.Gly766=) | |
13 | g.108208985C>G | CA388613608 | LIG4 | c.2083G>C (p.Gly695Arg) c.2284G>C (p.Gly762Arg) c.2320G>C (p.Gly774Arg) c.2296G>C (p.Gly766Arg) | |
13 | g.108208985C>T | CA7043532 | LIG4 | c.2083G>A (p.Gly695Ser) c.2284G>A (p.Gly762Ser) c.2320G>A (p.Gly774Ser) c.2296G>A (p.Gly766Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208986A>C | CA388613609 | LIG4 | c.2082T>G (p.Tyr694Ter) c.2283T>G (p.Tyr761Ter) c.2319T>G (p.Tyr773Ter) c.2295T>G (p.Tyr765Ter) | |
13 | g.108208986A>G | CA484974960 | LIG4 | c.2082T>C (p.Tyr694=) c.2283T>C (p.Tyr761=) c.2319T>C (p.Tyr773=) c.2295T>C (p.Tyr765=) | ClinVar |
13 | g.108208986A>T | CA388613610 | LIG4 | c.2082T>A (p.Tyr694Ter) c.2283T>A (p.Tyr761Ter) c.2319T>A (p.Tyr773Ter) c.2295T>A (p.Tyr765Ter) | |
13 | g.108208987T>A | CA388613611 | LIG4 | c.2081A>T (p.Tyr694Phe) c.2282A>T (p.Tyr761Phe) c.2318A>T (p.Tyr773Phe) c.2294A>T (p.Tyr765Phe) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208987T>C | CA388613612 | LIG4 | c.2081A>G (p.Tyr694Cys) c.2282A>G (p.Tyr761Cys) c.2318A>G (p.Tyr773Cys) c.2294A>G (p.Tyr765Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208987T>G | CA388613613 | LIG4 | c.2081A>C (p.Tyr694Ser) c.2282A>C (p.Tyr761Ser) c.2318A>C (p.Tyr773Ser) c.2294A>C (p.Tyr765Ser) | |
13 | g.108208987T= | CA2117794005 | LIG4 | c.2081A= (p.Tyr694=) c.2282A= (p.Tyr761=) c.2318A= (p.Tyr773=) c.2294A= (p.Tyr765=) | |
13 | g.108208988A>C | CA388613614 | LIG4 | c.2080T>G (p.Tyr694Asp) c.2281T>G (p.Tyr761Asp) c.2317T>G (p.Tyr773Asp) c.2293T>G (p.Tyr765Asp) | |
13 | g.108208988A>G | CA388613615 | LIG4 | c.2080T>C (p.Tyr694His) c.2281T>C (p.Tyr761His) c.2317T>C (p.Tyr773His) c.2293T>C (p.Tyr765His) | |
13 | g.108208988A>T | CA388613616 | LIG4 | c.2080T>A (p.Tyr694Asn) c.2281T>A (p.Tyr761Asn) c.2317T>A (p.Tyr773Asn) c.2293T>A (p.Tyr765Asn) | |
13 | g.108208989G>A | CA484974962 | LIG4 | c.2079C>T (p.Cys693=) c.2280C>T (p.Cys760=) c.2316C>T (p.Cys772=) c.2292C>T (p.Cys764=) | gnomAD v4 |
13 | g.108208989G>C | CA388613618 | LIG4 | c.2079C>G (p.Cys693Trp) c.2280C>G (p.Cys760Trp) c.2316C>G (p.Cys772Trp) c.2292C>G (p.Cys764Trp) | |
13 | g.108208989G>T | CA388613617 | LIG4 | c.2079C>A (p.Cys693Ter) c.2280C>A (p.Cys760Ter) c.2316C>A (p.Cys772Ter) c.2292C>A (p.Cys764Ter) | |
13 | g.108208990C>A | CA388613619 | LIG4 | c.2078G>T (p.Cys693Phe) c.2279G>T (p.Cys760Phe) c.2315G>T (p.Cys772Phe) c.2291G>T (p.Cys764Phe) | |
13 | g.108208990C= | CA2117794006 | LIG4 | c.2078G= (p.Cys693=) c.2279G= (p.Cys760=) c.2315G= (p.Cys772=) c.2291G= (p.Cys764=) | |
13 | g.108208990C>G | CA388613621 | LIG4 | c.2078G>C (p.Cys693Ser) c.2279G>C (p.Cys760Ser) c.2315G>C (p.Cys772Ser) c.2291G>C (p.Cys764Ser) | gnomAD v4 |
13 | g.108208990C>T | CA388613620 | LIG4 | c.2078G>A (p.Cys693Tyr) c.2279G>A (p.Cys760Tyr) c.2315G>A (p.Cys772Tyr) c.2291G>A (p.Cys764Tyr) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208991A>C | CA388613622 | LIG4 | c.2077T>G (p.Cys693Gly) c.2278T>G (p.Cys760Gly) c.2314T>G (p.Cys772Gly) c.2290T>G (p.Cys764Gly) | |
13 | g.108208991A>G | CA388613624 | LIG4 | c.2077T>C (p.Cys693Arg) c.2278T>C (p.Cys760Arg) c.2314T>C (p.Cys772Arg) c.2290T>C (p.Cys764Arg) | gnomAD v4 |
13 | g.108208991A>T | CA388613623 | LIG4 | c.2077T>A (p.Cys693Ser) c.2278T>A (p.Cys760Ser) c.2314T>A (p.Cys772Ser) c.2290T>A (p.Cys764Ser) | |
13 | g.108208992A>C | CA388613625 | LIG4 | c.2076T>G (p.Asp692Glu) c.2277T>G (p.Asp759Glu) c.2313T>G (p.Asp771Glu) c.2289T>G (p.Asp763Glu) | |
13 | g.108208992A>G | CA484974967 | LIG4 | c.2076T>C (p.Asp692=) c.2277T>C (p.Asp759=) c.2313T>C (p.Asp771=) c.2289T>C (p.Asp763=) | |
13 | g.108208992A>T | CA388613626 | LIG4 | c.2076T>A (p.Asp692Glu) c.2277T>A (p.Asp759Glu) c.2313T>A (p.Asp771Glu) c.2289T>A (p.Asp763Glu) | |
13 | g.108208993T>A | CA388613627 | LIG4 | c.2075A>T (p.Asp692Val) c.2276A>T (p.Asp759Val) c.2312A>T (p.Asp771Val) c.2288A>T (p.Asp763Val) | |
13 | g.108208993T>C | CA388613628 | LIG4 | c.2075A>G (p.Asp692Gly) c.2276A>G (p.Asp759Gly) c.2312A>G (p.Asp771Gly) c.2288A>G (p.Asp763Gly) | ClinVar |
13 | g.108208993T>G | CA388613629 | LIG4 | c.2075A>C (p.Asp692Ala) c.2276A>C (p.Asp759Ala) c.2312A>C (p.Asp771Ala) c.2288A>C (p.Asp763Ala) | |
13 | g.108208994C>A | CA388613632 | LIG4 | c.2074G>T (p.Asp692Tyr) c.2275G>T (p.Asp759Tyr) c.2311G>T (p.Asp771Tyr) c.2287G>T (p.Asp763Tyr) | |
13 | g.108208994C>G | CA388613631 | LIG4 | c.2074G>C (p.Asp692His) c.2275G>C (p.Asp759His) c.2311G>C (p.Asp771His) c.2287G>C (p.Asp763His) | |
13 | g.108208994C>T | CA388613630 | LIG4 | c.2074G>A (p.Asp692Asn) c.2275G>A (p.Asp759Asn) c.2311G>A (p.Asp771Asn) c.2287G>A (p.Asp763Asn) | |
13 | g.108208995A= | CA2117794007 | LIG4 | c.2073T= (p.Tyr691=) c.2274T= (p.Tyr758=) c.2310T= (p.Tyr770=) c.2286T= (p.Tyr762=) | |
13 | g.108208995A>C | CA388613633 | LIG4 | c.2073T>G (p.Tyr691Ter) c.2274T>G (p.Tyr758Ter) c.2310T>G (p.Tyr770Ter) c.2286T>G (p.Tyr762Ter) | |
13 | g.108208995A>G | CA7043533 | LIG4 | c.2073T>C (p.Tyr691=) c.2274T>C (p.Tyr758=) c.2310T>C (p.Tyr770=) c.2286T>C (p.Tyr762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208995A>T | CA388613634 | LIG4 | c.2073T>A (p.Tyr691Ter) c.2274T>A (p.Tyr758Ter) c.2310T>A (p.Tyr770Ter) c.2286T>A (p.Tyr762Ter) | |
13 | g.108208996T>A | CA388613635 | LIG4 | c.2072A>T (p.Tyr691Phe) c.2273A>T (p.Tyr758Phe) c.2309A>T (p.Tyr770Phe) c.2285A>T (p.Tyr762Phe) | |
13 | g.108208996T>C | CA7043534 | LIG4 | c.2072A>G (p.Tyr691Cys) c.2273A>G (p.Tyr758Cys) c.2309A>G (p.Tyr770Cys) c.2285A>G (p.Tyr762Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208996T>G | CA388613636 | LIG4 | c.2072A>C (p.Tyr691Ser) c.2273A>C (p.Tyr758Ser) c.2309A>C (p.Tyr770Ser) c.2285A>C (p.Tyr762Ser) | |
13 | g.108208996T= | CA2117794008 | LIG4 | c.2072A= (p.Tyr691=) c.2273A= (p.Tyr758=) c.2309A= (p.Tyr770=) c.2285A= (p.Tyr762=) | |
13 | g.108208997A>C | CA388613637 | LIG4 | c.2071T>G (p.Tyr691Asp) c.2272T>G (p.Tyr758Asp) c.2308T>G (p.Tyr770Asp) c.2284T>G (p.Tyr762Asp) | |
13 | g.108208997A>G | CA388613639 | LIG4 | c.2071T>C (p.Tyr691His) c.2272T>C (p.Tyr758His) c.2308T>C (p.Tyr770His) c.2284T>C (p.Tyr762His) | |
13 | g.108208997A>T | CA388613638 | LIG4 | c.2071T>A (p.Tyr691Asn) c.2272T>A (p.Tyr758Asn) c.2308T>A (p.Tyr770Asn) c.2284T>A (p.Tyr762Asn) | |
13 | g.108208998T>A | CA388613640 | LIG4 | c.2070A>T (p.Glu690Asp) c.2271A>T (p.Glu757Asp) c.2307A>T (p.Glu769Asp) c.2283A>T (p.Glu761Asp) | |
13 | g.108208998T>C | CA484974970 | LIG4 | c.2070A>G (p.Glu690=) c.2271A>G (p.Glu757=) c.2307A>G (p.Glu769=) c.2283A>G (p.Glu761=) | |
13 | g.108208998T>G | CA388613641 | LIG4 | c.2070A>C (p.Glu690Asp) c.2271A>C (p.Glu757Asp) c.2307A>C (p.Glu769Asp) c.2283A>C (p.Glu761Asp) | |
13 | g.108208999T>A | CA388613642 | LIG4 | c.2069A>T (p.Glu690Val) c.2270A>T (p.Glu757Val) c.2306A>T (p.Glu769Val) c.2282A>T (p.Glu761Val) | |
13 | g.108208999T>C | CA388613643 | LIG4 | c.2069A>G (p.Glu690Gly) c.2270A>G (p.Glu757Gly) c.2306A>G (p.Glu769Gly) c.2282A>G (p.Glu761Gly) | |
13 | g.108208999T>G | CA388613644 | LIG4 | c.2069A>C (p.Glu690Ala) c.2270A>C (p.Glu757Ala) c.2306A>C (p.Glu769Ala) c.2282A>C (p.Glu761Ala) | |
13 | g.108209000C>A | CA388613645 | LIG4 | c.2068G>T (p.Glu690Ter) c.2269G>T (p.Glu757Ter) c.2305G>T (p.Glu769Ter) c.2281G>T (p.Glu761Ter) | |
13 | g.108209000C>G | CA388613646 | LIG4 | c.2068G>C (p.Glu690Gln) c.2269G>C (p.Glu757Gln) c.2305G>C (p.Glu769Gln) c.2281G>C (p.Glu761Gln) | |
13 | g.108209000C>T | CA388613647 | LIG4 | c.2068G>A (p.Glu690Lys) c.2269G>A (p.Glu757Lys) c.2305G>A (p.Glu769Lys) c.2281G>A (p.Glu761Lys) | gnomAD v4 COSMIC |
13 | g.108209001A>C | CA484974973 | LIG4 | c.2067T>G (p.Arg689=) c.2268T>G (p.Arg756=) c.2304T>G (p.Arg768=) c.2280T>G (p.Arg760=) | |
13 | g.108209001A>G | CA484974975 | LIG4 | c.2067T>C (p.Arg689=) c.2268T>C (p.Arg756=) c.2304T>C (p.Arg768=) c.2280T>C (p.Arg760=) | |
13 | g.108209001A>T | CA484974976 | LIG4 | c.2067T>A (p.Arg689=) c.2268T>A (p.Arg756=) c.2304T>A (p.Arg768=) c.2280T>A (p.Arg760=) | |
13 | g.108209002C>A | CA388613648 | LIG4 | c.2066G>T (p.Arg689Leu) c.2267G>T (p.Arg756Leu) c.2303G>T (p.Arg768Leu) c.2279G>T (p.Arg760Leu) | gnomAD v4 |
13 | g.108209002C= | CA2117794009 | LIG4 | c.2066G= (p.Arg689=) c.2267G= (p.Arg756=) c.2303G= (p.Arg768=) c.2279G= (p.Arg760=) | |
13 | g.108209002C>G | CA388613649 | LIG4 | c.2066G>C (p.Arg689Pro) c.2267G>C (p.Arg756Pro) c.2303G>C (p.Arg768Pro) c.2279G>C (p.Arg760Pro) | |
13 | g.108209002C>T | CA7043535 | LIG4 | c.2066G>A (p.Arg689His) c.2267G>A (p.Arg756His) c.2303G>A (p.Arg768His) c.2279G>A (p.Arg760His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209003G>A | CA7043537 | LIG4 | c.2065C>T (p.Arg689Cys) c.2266C>T (p.Arg756Cys) c.2302C>T (p.Arg768Cys) c.2278C>T (p.Arg760Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209003G>C | CA388613650 | LIG4 | c.2065C>G (p.Arg689Gly) c.2266C>G (p.Arg756Gly) c.2302C>G (p.Arg768Gly) c.2278C>G (p.Arg760Gly) | |
13 | g.108209003G= | CA2117794010 | LIG4 | c.2065C= (p.Arg689=) c.2266C= (p.Arg756=) c.2302C= (p.Arg768=) c.2278C= (p.Arg760=) | |
13 | g.108209003G>T | CA7043536 | LIG4 | c.2065C>A (p.Arg689Ser) c.2266C>A (p.Arg756Ser) c.2302C>A (p.Arg768Ser) c.2278C>A (p.Arg760Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209004G>A | CA484974978 | LIG4 | c.2064C>T (p.Ala688=) c.2265C>T (p.Ala755=) c.2301C>T (p.Ala767=) c.2277C>T (p.Ala759=) | dbSNP |
13 | g.108209004G>C | CA484974979 | LIG4 | c.2064C>G (p.Ala688=) c.2265C>G (p.Ala755=) c.2301C>G (p.Ala767=) c.2277C>G (p.Ala759=) | dbSNP |
13 | g.108209004G= | CA2117794011 | LIG4 | c.2064C= (p.Ala688=) c.2265C= (p.Ala755=) c.2301C= (p.Ala767=) c.2277C= (p.Ala759=) | |
13 | g.108209004G>T | CA484974980 | LIG4 | c.2064C>A (p.Ala688=) c.2265C>A (p.Ala755=) c.2301C>A (p.Ala767=) c.2277C>A (p.Ala759=) | |
13 | g.108209005G>A | CA388613651 | LIG4 | c.2063C>T (p.Ala688Val) c.2264C>T (p.Ala755Val) c.2300C>T (p.Ala767Val) c.2276C>T (p.Ala759Val) | |
13 | g.108209005G>C | CA388613652 | LIG4 | c.2063C>G (p.Ala688Gly) c.2264C>G (p.Ala755Gly) c.2300C>G (p.Ala767Gly) c.2276C>G (p.Ala759Gly) | |
13 | g.108209005G>T | CA388613653 | LIG4 | c.2063C>A (p.Ala688Asp) c.2264C>A (p.Ala755Asp) c.2300C>A (p.Ala767Asp) c.2276C>A (p.Ala759Asp) | |
13 | g.108209006C>A | CA388613654 | LIG4 | c.2062G>T (p.Ala688Ser) c.2263G>T (p.Ala755Ser) c.2299G>T (p.Ala767Ser) c.2275G>T (p.Ala759Ser) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209006C= | CA2117794012 | LIG4 | c.2062G= (p.Ala688=) c.2263G= (p.Ala755=) c.2299G= (p.Ala767=) c.2275G= (p.Ala759=) | |
13 | g.108209006C>G | CA256179747 | LIG4 | c.2062G>C (p.Ala688Pro) c.2263G>C (p.Ala755Pro) c.2299G>C (p.Ala767Pro) c.2275G>C (p.Ala759Pro) | dbSNP |
13 | g.108209006C>T | CA388613655 | LIG4 | c.2062G>A (p.Ala688Thr) c.2263G>A (p.Ala755Thr) c.2299G>A (p.Ala767Thr) c.2275G>A (p.Ala759Thr) |