Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
13 | g.108209007A>C | CA388613656 | LIG4 | c.2061T>G (p.Phe687Leu) c.2262T>G (p.Phe754Leu) c.2298T>G (p.Phe766Leu) c.2274T>G (p.Phe758Leu) | |
13 | g.108209007A>G | CA484974983 | LIG4 | c.2061T>C (p.Phe687=) c.2262T>C (p.Phe754=) c.2298T>C (p.Phe766=) c.2274T>C (p.Phe758=) | |
13 | g.108209007A>T | CA388613657 | LIG4 | c.2061T>A (p.Phe687Leu) c.2262T>A (p.Phe754Leu) c.2298T>A (p.Phe766Leu) c.2274T>A (p.Phe758Leu) | |
13 | g.108209010del | CA2739277737 | LIG4 | c.2061del (p.Phe687LeufsTer18) c.2262del (p.Phe754LeufsTer18) c.2298del (p.Phe766LeufsTer18) c.2274del (p.Phe758LeufsTer18) | ClinVar |
13 | g.108209008A= | CA2117794013 | LIG4 | c.2060T= (p.Phe687=) c.2261T= (p.Phe754=) c.2297T= (p.Phe766=) c.2273T= (p.Phe758=) | |
13 | g.108209008A>C | CA388613658 | LIG4 | c.2060T>G (p.Phe687Cys) c.2261T>G (p.Phe754Cys) c.2297T>G (p.Phe766Cys) c.2273T>G (p.Phe758Cys) | |
13 | g.108209008A>G | CA7043538 | LIG4 | c.2060T>C (p.Phe687Ser) c.2261T>C (p.Phe754Ser) c.2297T>C (p.Phe766Ser) c.2273T>C (p.Phe758Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209008A>T | CA388613659 | LIG4 | c.2060T>A (p.Phe687Tyr) c.2261T>A (p.Phe754Tyr) c.2297T>A (p.Phe766Tyr) c.2273T>A (p.Phe758Tyr) | |
13 | g.108209009A>C | CA388613662 | LIG4 | c.2059T>G (p.Phe687Val) c.2260T>G (p.Phe754Val) c.2296T>G (p.Phe766Val) c.2272T>G (p.Phe758Val) | |
13 | g.108209009A>G | CA388613660 | LIG4 | c.2059T>C (p.Phe687Leu) c.2260T>C (p.Phe754Leu) c.2296T>C (p.Phe766Leu) c.2272T>C (p.Phe758Leu) | |
13 | g.108209009A>T | CA388613661 | LIG4 | c.2059T>A (p.Phe687Ile) c.2260T>A (p.Phe754Ile) c.2296T>A (p.Phe766Ile) c.2272T>A (p.Phe758Ile) | |
13 | g.108209010A>C | CA388613663 | LIG4 | c.2058T>G (p.His686Gln) c.2259T>G (p.His753Gln) c.2295T>G (p.His765Gln) c.2271T>G (p.His757Gln) | |
13 | g.108209010A>G | CA484974988 | LIG4 | c.2058T>C (p.His686=) c.2259T>C (p.His753=) c.2295T>C (p.His765=) c.2271T>C (p.His757=) | |
13 | g.108209010A>T | CA388613664 | LIG4 | c.2058T>A (p.His686Gln) c.2259T>A (p.His753Gln) c.2295T>A (p.His765Gln) c.2271T>A (p.His757Gln) | |
13 | g.108209011T>A | CA388613665 | LIG4 | c.2057A>T (p.His686Leu) c.2258A>T (p.His753Leu) c.2294A>T (p.His765Leu) c.2270A>T (p.His757Leu) | |
13 | g.108209011T>C | CA388613666 | LIG4 | c.2057A>G (p.His686Arg) c.2258A>G (p.His753Arg) c.2294A>G (p.His765Arg) c.2270A>G (p.His757Arg) | |
13 | g.108209011T>G | CA388613667 | LIG4 | c.2057A>C (p.His686Pro) c.2258A>C (p.His753Pro) c.2294A>C (p.His765Pro) c.2270A>C (p.His757Pro) | |
13 | g.108209012G>A | CA388613668 | LIG4 | c.2056C>T (p.His686Tyr) c.2257C>T (p.His753Tyr) c.2293C>T (p.His765Tyr) c.2269C>T (p.His757Tyr) | gnomAD v4 |
13 | g.108209012G>C | CA388613669 | LIG4 | c.2056C>G (p.His686Asp) c.2257C>G (p.His753Asp) c.2293C>G (p.His765Asp) c.2269C>G (p.His757Asp) | |
13 | g.108209012G>T | CA388613670 | LIG4 | c.2056C>A (p.His686Asn) c.2257C>A (p.His753Asn) c.2293C>A (p.His765Asn) c.2269C>A (p.His757Asn) | |
13 | g.108209013T>A | CA388613671 | LIG4 | c.2055A>T (p.Glu685Asp) c.2256A>T (p.Glu752Asp) c.2292A>T (p.Glu764Asp) c.2268A>T (p.Glu756Asp) | |
13 | g.108209013T>C | CA7043539 | LIG4 | c.2055A>G (p.Glu685=) c.2256A>G (p.Glu752=) c.2292A>G (p.Glu764=) c.2268A>G (p.Glu756=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209013T>G | CA388613672 | LIG4 | c.2055A>C (p.Glu685Asp) c.2256A>C (p.Glu752Asp) c.2292A>C (p.Glu764Asp) c.2268A>C (p.Glu756Asp) | |
13 | g.108209013T= | CA2117794014 | LIG4 | c.2055A= (p.Glu685=) c.2256A= (p.Glu752=) c.2292A= (p.Glu764=) c.2268A= (p.Glu756=) | |
13 | g.108209014T>A | CA388613674 | LIG4 | c.2054A>T (p.Glu685Val) c.2255A>T (p.Glu752Val) c.2291A>T (p.Glu764Val) c.2267A>T (p.Glu756Val) | |
13 | g.108209014T>C | CA388613675 | LIG4 | c.2054A>G (p.Glu685Gly) c.2255A>G (p.Glu752Gly) c.2291A>G (p.Glu764Gly) c.2267A>G (p.Glu756Gly) | dbSNP gnomAD v4 |
13 | g.108209014T>G | CA388613673 | LIG4 | c.2054A>C (p.Glu685Ala) c.2255A>C (p.Glu752Ala) c.2291A>C (p.Glu764Ala) c.2267A>C (p.Glu756Ala) | |
13 | g.108209014T= | CA2117794015 | LIG4 | c.2054A= (p.Glu685=) c.2255A= (p.Glu752=) c.2291A= (p.Glu764=) c.2267A= (p.Glu756=) | |
13 | g.108209015C>A | CA388613676 | LIG4 | c.2053G>T (p.Glu685Ter) c.2254G>T (p.Glu752Ter) c.2290G>T (p.Glu764Ter) c.2266G>T (p.Glu756Ter) | COSMIC |
13 | g.108209015C>G | CA388613677 | LIG4 | c.2053G>C (p.Glu685Gln) c.2254G>C (p.Glu752Gln) c.2290G>C (p.Glu764Gln) c.2266G>C (p.Glu756Gln) | |
13 | g.108209015C>T | CA388613678 | LIG4 | c.2053G>A (p.Glu685Lys) c.2254G>A (p.Glu752Lys) c.2290G>A (p.Glu764Lys) c.2266G>A (p.Glu756Lys) | |
13 | g.108209016T>A | CA388613679 | LIG4 | c.2052A>T (p.Lys684Asn) c.2253A>T (p.Lys751Asn) c.2289A>T (p.Lys763Asn) c.2265A>T (p.Lys755Asn) | |
13 | g.108209016T>C | CA484974993 | LIG4 | c.2052A>G (p.Lys684=) c.2253A>G (p.Lys751=) c.2289A>G (p.Lys763=) c.2265A>G (p.Lys755=) | |
13 | g.108209016T>G | CA388613680 | LIG4 | c.2052A>C (p.Lys684Asn) c.2253A>C (p.Lys751Asn) c.2289A>C (p.Lys763Asn) c.2265A>C (p.Lys755Asn) | |
13 | g.108209017T>A | CA388613683 | LIG4 | c.2051A>T (p.Lys684Ile) c.2252A>T (p.Lys751Ile) c.2288A>T (p.Lys763Ile) c.2264A>T (p.Lys755Ile) | |
13 | g.108209017T>C | CA388613682 | LIG4 | c.2051A>G (p.Lys684Arg) c.2252A>G (p.Lys751Arg) c.2288A>G (p.Lys763Arg) c.2264A>G (p.Lys755Arg) | |
13 | g.108209017T>G | CA388613681 | LIG4 | c.2051A>C (p.Lys684Thr) c.2252A>C (p.Lys751Thr) c.2288A>C (p.Lys763Thr) c.2264A>C (p.Lys755Thr) | |
13 | g.108209018T>A | CA388613684 | LIG4 | c.2050A>T (p.Lys684Ter) c.2251A>T (p.Lys751Ter) c.2287A>T (p.Lys763Ter) c.2263A>T (p.Lys755Ter) | |
13 | g.108209018T>C | CA388613685 | LIG4 | c.2050A>G (p.Lys684Glu) c.2251A>G (p.Lys751Glu) c.2287A>G (p.Lys763Glu) c.2263A>G (p.Lys755Glu) | |
13 | g.108209018T>G | CA388613686 | LIG4 | c.2050A>C (p.Lys684Gln) c.2251A>C (p.Lys751Gln) c.2287A>C (p.Lys763Gln) c.2263A>C (p.Lys755Gln) | |
13 | g.108209019G>A | CA484974994 | LIG4 | c.2049C>T (p.Thr683=) c.2250C>T (p.Thr750=) c.2286C>T (p.Thr762=) c.2262C>T (p.Thr754=) | |
13 | g.108209019G>C | CA484974996 | LIG4 | c.2049C>G (p.Thr683=) c.2250C>G (p.Thr750=) c.2286C>G (p.Thr762=) c.2262C>G (p.Thr754=) | ClinVar gnomAD v4 |
13 | g.108209019G>T | CA484974995 | LIG4 | c.2049C>A (p.Thr683=) c.2250C>A (p.Thr750=) c.2286C>A (p.Thr762=) c.2262C>A (p.Thr754=) | |
13 | g.108209020G>A | CA388613687 | LIG4 | c.2048C>T (p.Thr683Ile) c.2249C>T (p.Thr750Ile) c.2285C>T (p.Thr762Ile) c.2261C>T (p.Thr754Ile) | gnomAD v4 |
13 | g.108209020G>C | CA388613688 | LIG4 | c.2048C>G (p.Thr683Ser) c.2249C>G (p.Thr750Ser) c.2285C>G (p.Thr762Ser) c.2261C>G (p.Thr754Ser) | |
13 | g.108209020G>T | CA388613689 | LIG4 | c.2048C>A (p.Thr683Asn) c.2249C>A (p.Thr750Asn) c.2285C>A (p.Thr762Asn) c.2261C>A (p.Thr754Asn) | |
13 | g.108209021T>A | CA388613692 | LIG4 | c.2047A>T (p.Thr683Ser) c.2248A>T (p.Thr750Ser) c.2284A>T (p.Thr762Ser) c.2260A>T (p.Thr754Ser) | |
13 | g.108209021T>C | CA388613690 | LIG4 | c.2047A>G (p.Thr683Ala) c.2248A>G (p.Thr750Ala) c.2284A>G (p.Thr762Ala) c.2260A>G (p.Thr754Ala) | |
13 | g.108209021T>G | CA388613691 | LIG4 | c.2047A>C (p.Thr683Pro) c.2248A>C (p.Thr750Pro) c.2284A>C (p.Thr762Pro) c.2260A>C (p.Thr754Pro) | |
13 | g.108209022T>A | CA484974998 | LIG4 | c.2046A>T (p.Ser682=) c.2247A>T (p.Ser749=) c.2283A>T (p.Ser761=) c.2259A>T (p.Ser753=) | |
13 | g.108209022T>C | CA484974999 | LIG4 | c.2046A>G (p.Ser682=) c.2247A>G (p.Ser749=) c.2283A>G (p.Ser761=) c.2259A>G (p.Ser753=) | |
13 | g.108209022T>G | CA484975000 | LIG4 | c.2046A>C (p.Ser682=) c.2247A>C (p.Ser749=) c.2283A>C (p.Ser761=) c.2259A>C (p.Ser753=) | |
13 | g.108209023G>A | CA388613693 | LIG4 | c.2045C>T (p.Ser682Leu) c.2246C>T (p.Ser749Leu) c.2282C>T (p.Ser761Leu) c.2258C>T (p.Ser753Leu) | |
13 | g.108209023G>C | CA388613694 | LIG4 | c.2045C>G (p.Ser682Ter) c.2246C>G (p.Ser749Ter) c.2282C>G (p.Ser761Ter) c.2258C>G (p.Ser753Ter) | |
13 | g.108209023G>T | CA388613695 | LIG4 | c.2045C>A (p.Ser682Ter) c.2246C>A (p.Ser749Ter) c.2282C>A (p.Ser761Ter) c.2258C>A (p.Ser753Ter) | |
13 | g.108209024A= | CA2117794016 | LIG4 | c.2044T= (p.Ser682=) c.2245T= (p.Ser749=) c.2281T= (p.Ser761=) c.2257T= (p.Ser753=) | |
13 | g.108209024A>C | CA388613696 | LIG4 | c.2044T>G (p.Ser682Ala) c.2245T>G (p.Ser749Ala) c.2281T>G (p.Ser761Ala) c.2257T>G (p.Ser753Ala) | |
13 | g.108209024A>G | CA7043540 | LIG4 | c.2044T>C (p.Ser682Pro) c.2245T>C (p.Ser749Pro) c.2281T>C (p.Ser761Pro) c.2257T>C (p.Ser753Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209024A>T | CA388613697 | LIG4 | c.2044T>A (p.Ser682Thr) c.2245T>A (p.Ser749Thr) c.2281T>A (p.Ser761Thr) c.2257T>A (p.Ser753Thr) | |
13 | g.108209025T>A | CA484975004 | LIG4 | c.2043A>T (p.Pro681=) c.2244A>T (p.Pro748=) c.2280A>T (p.Pro760=) c.2256A>T (p.Pro752=) | |
13 | g.108209025T>C | CA7043541 | LIG4 | c.2043A>G (p.Pro681=) c.2244A>G (p.Pro748=) c.2280A>G (p.Pro760=) c.2256A>G (p.Pro752=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209025T>G | CA484975005 | LIG4 | c.2043A>C (p.Pro681=) c.2244A>C (p.Pro748=) c.2280A>C (p.Pro760=) c.2256A>C (p.Pro752=) | |
13 | g.108209025T= | CA2117794017 | LIG4 | c.2043A= (p.Pro681=) c.2244A= (p.Pro748=) c.2280A= (p.Pro760=) c.2256A= (p.Pro752=) | |
13 | g.108209026G>A | CA388613698 | LIG4 | c.2042C>T (p.Pro681Leu) c.2243C>T (p.Pro748Leu) c.2279C>T (p.Pro760Leu) c.2255C>T (p.Pro752Leu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209026G>C | CA388613699 | LIG4 | c.2042C>G (p.Pro681Arg) c.2243C>G (p.Pro748Arg) c.2279C>G (p.Pro760Arg) c.2255C>G (p.Pro752Arg) | |
13 | g.108209026G= | CA2117794018 | LIG4 | c.2042C= (p.Pro681=) c.2243C= (p.Pro748=) c.2279C= (p.Pro760=) c.2255C= (p.Pro752=) | |
13 | g.108209026G>T | CA388613700 | LIG4 | c.2042C>A (p.Pro681Gln) c.2243C>A (p.Pro748Gln) c.2279C>A (p.Pro760Gln) c.2255C>A (p.Pro752Gln) | |
13 | g.108209028del | CA2623644096 | LIG4 | c.2042del (p.Pro681HisfsTer24) c.2243del (p.Pro748HisfsTer24) c.2279del (p.Pro760HisfsTer24) c.2255del (p.Pro752HisfsTer24) | gnomAD v4 |
13 | g.108209027G>A | CA388613701 | LIG4 | c.2041C>T (p.Pro681Ser) c.2242C>T (p.Pro748Ser) c.2278C>T (p.Pro760Ser) c.2254C>T (p.Pro752Ser) | |
13 | g.108209027G>C | CA388613702 | LIG4 | c.2041C>G (p.Pro681Ala) c.2242C>G (p.Pro748Ala) c.2278C>G (p.Pro760Ala) c.2254C>G (p.Pro752Ala) | gnomAD v4 |
13 | g.108209027G>T | CA388613703 | LIG4 | c.2041C>A (p.Pro681Thr) c.2242C>A (p.Pro748Thr) c.2278C>A (p.Pro760Thr) c.2254C>A (p.Pro752Thr) | |
13 | g.108209028G>A | CA256179810 | LIG4 | c.2040C>T (p.Cys680=) c.2241C>T (p.Cys747=) c.2277C>T (p.Cys759=) c.2253C>T (p.Cys751=) | dbSNP |
13 | g.108209028G>C | CA388613705 | LIG4 | c.2040C>G (p.Cys680Trp) c.2241C>G (p.Cys747Trp) c.2277C>G (p.Cys759Trp) c.2253C>G (p.Cys751Trp) | |
13 | g.108209028G= | CA2117794019 | LIG4 | c.2040C= (p.Cys680=) c.2241C= (p.Cys747=) c.2277C= (p.Cys759=) c.2253C= (p.Cys751=) | |
13 | g.108209028G>T | CA388613704 | LIG4 | c.2040C>A (p.Cys680Ter) c.2241C>A (p.Cys747Ter) c.2277C>A (p.Cys759Ter) c.2253C>A (p.Cys751Ter) | |
13 | g.108209029C>A | CA388613706 | LIG4 | c.2039G>T (p.Cys680Phe) c.2240G>T (p.Cys747Phe) c.2276G>T (p.Cys759Phe) c.2252G>T (p.Cys751Phe) | |
13 | g.108209029C>G | CA388613707 | LIG4 | c.2039G>C (p.Cys680Ser) c.2240G>C (p.Cys747Ser) c.2276G>C (p.Cys759Ser) c.2252G>C (p.Cys751Ser) | |
13 | g.108209029C>T | CA388613708 | LIG4 | c.2039G>A (p.Cys680Tyr) c.2240G>A (p.Cys747Tyr) c.2276G>A (p.Cys759Tyr) c.2252G>A (p.Cys751Tyr) | |
13 | g.108209030A= | CA2117794020 | LIG4 | c.2038T= (p.Cys680=) c.2239T= (p.Cys747=) c.2275T= (p.Cys759=) c.2251T= (p.Cys751=) | |
13 | g.108209030A>C | CA388613709 | LIG4 | c.2038T>G (p.Cys680Gly) c.2239T>G (p.Cys747Gly) c.2275T>G (p.Cys759Gly) c.2251T>G (p.Cys751Gly) | |
13 | g.108209030A>G | CA388613710 | LIG4 | c.2038T>C (p.Cys680Arg) c.2239T>C (p.Cys747Arg) c.2275T>C (p.Cys759Arg) c.2251T>C (p.Cys751Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.108209030A>T | CA388613711 | LIG4 | c.2038T>A (p.Cys680Ser) c.2239T>A (p.Cys747Ser) c.2275T>A (p.Cys759Ser) c.2251T>A (p.Cys751Ser) | |
13 | g.108209031C>A | CA388613712 | LIG4 | c.2037G>T (p.Met679Ile) c.2238G>T (p.Met746Ile) c.2274G>T (p.Met758Ile) c.2250G>T (p.Met750Ile) | |
13 | g.108209031C>G | CA388613713 | LIG4 | c.2037G>C (p.Met679Ile) c.2238G>C (p.Met746Ile) c.2274G>C (p.Met758Ile) c.2250G>C (p.Met750Ile) | gnomAD v4 |
13 | g.108209031C>T | CA388613714 | LIG4 | c.2037G>A (p.Met679Ile) c.2238G>A (p.Met746Ile) c.2274G>A (p.Met758Ile) c.2250G>A (p.Met750Ile) | |
13 | g.108209032A= | CA2117794021 | LIG4 | c.2036T= (p.Met679=) c.2237T= (p.Met746=) c.2273T= (p.Met758=) c.2249T= (p.Met750=) | |
13 | g.108209032A>C | CA388613715 | LIG4 | c.2036T>G (p.Met679Arg) c.2237T>G (p.Met746Arg) c.2273T>G (p.Met758Arg) c.2249T>G (p.Met750Arg) | |
13 | g.108209032A>G | CA7043542 | LIG4 | c.2036T>C (p.Met679Thr) c.2237T>C (p.Met746Thr) c.2273T>C (p.Met758Thr) c.2249T>C (p.Met750Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209032A>T | CA388613716 | LIG4 | c.2036T>A (p.Met679Lys) c.2237T>A (p.Met746Lys) c.2273T>A (p.Met758Lys) c.2249T>A (p.Met750Lys) | |
13 | g.108209033T>A | CA256179860 | LIG4 | c.2035A>T (p.Met679Leu) c.2236A>T (p.Met746Leu) c.2272A>T (p.Met758Leu) c.2248A>T (p.Met750Leu) | dbSNP |
13 | g.108209033T>C | CA388613718 | LIG4 | c.2035A>G (p.Met679Val) c.2236A>G (p.Met746Val) c.2272A>G (p.Met758Val) c.2248A>G (p.Met750Val) | |
13 | g.108209033T>G | CA388613717 | LIG4 | c.2035A>C (p.Met679Leu) c.2236A>C (p.Met746Leu) c.2272A>C (p.Met758Leu) c.2248A>C (p.Met750Leu) | |
13 | g.108209033T= | CA2117794022 | LIG4 | c.2035A= (p.Met679=) c.2236A= (p.Met746=) c.2272A= (p.Met758=) c.2248A= (p.Met750=) | |
13 | g.108209034A>C | CA388613719 | LIG4 | c.2034T>G (p.His678Gln) c.2235T>G (p.His745Gln) c.2271T>G (p.His757Gln) c.2247T>G (p.His749Gln) | |
13 | g.108209034A>G | CA484975011 | LIG4 | c.2034T>C (p.His678=) c.2235T>C (p.His745=) c.2271T>C (p.His757=) c.2247T>C (p.His749=) | |
13 | g.108209034A>T | CA388613720 | LIG4 | c.2034T>A (p.His678Gln) c.2235T>A (p.His745Gln) c.2271T>A (p.His757Gln) c.2247T>A (p.His749Gln) | |
13 | g.108209035T>A | CA256179870 | LIG4 | c.2033A>T (p.His678Leu) c.2234A>T (p.His745Leu) c.2270A>T (p.His757Leu) c.2246A>T (p.His749Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209035T>C | CA388613721 | LIG4 | c.2033A>G (p.His678Arg) c.2234A>G (p.His745Arg) c.2270A>G (p.His757Arg) c.2246A>G (p.His749Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209035T>G | CA388613722 | LIG4 | c.2033A>C (p.His678Pro) c.2234A>C (p.His745Pro) c.2270A>C (p.His757Pro) c.2246A>C (p.His749Pro) | |
13 | g.108209035T= | CA2117794023 | LIG4 | c.2033A= (p.His678=) c.2234A= (p.His745=) c.2270A= (p.His757=) c.2246A= (p.His749=) | |
13 | g.108209036G>A | CA388613723 | LIG4 | c.2032C>T (p.His678Tyr) c.2233C>T (p.His745Tyr) c.2269C>T (p.His757Tyr) c.2245C>T (p.His749Tyr) | COSMIC |
13 | g.108209036G>C | CA388613724 | LIG4 | c.2032C>G (p.His678Asp) c.2233C>G (p.His745Asp) c.2269C>G (p.His757Asp) c.2245C>G (p.His749Asp) | |
13 | g.108209036G>T | CA388613725 | LIG4 | c.2032C>A (p.His678Asn) c.2233C>A (p.His745Asn) c.2269C>A (p.His757Asn) c.2245C>A (p.His749Asn) | |
13 | g.108209037A>C | CA388613726 | LIG4 | c.2031T>G (p.Ile677Met) c.2232T>G (p.Ile744Met) c.2268T>G (p.Ile756Met) c.2244T>G (p.Ile748Met) | |
13 | g.108209037A>G | CA484975013 | LIG4 | c.2031T>C (p.Ile677=) c.2232T>C (p.Ile744=) c.2268T>C (p.Ile756=) c.2244T>C (p.Ile748=) | |
13 | g.108209037A>T | CA484975014 | LIG4 | c.2031T>A (p.Ile677=) c.2232T>A (p.Ile744=) c.2268T>A (p.Ile756=) c.2244T>A (p.Ile748=) | |
13 | g.108209038A>C | CA388613727 | LIG4 | c.2030T>G (p.Ile677Ser) c.2231T>G (p.Ile744Ser) c.2267T>G (p.Ile756Ser) c.2243T>G (p.Ile748Ser) | |
13 | g.108209038A>G | CA388613728 | LIG4 | c.2030T>C (p.Ile677Thr) c.2231T>C (p.Ile744Thr) c.2267T>C (p.Ile756Thr) c.2243T>C (p.Ile748Thr) | |
13 | g.108209038A>T | CA388613729 | LIG4 | c.2030T>A (p.Ile677Asn) c.2231T>A (p.Ile744Asn) c.2267T>A (p.Ile756Asn) c.2243T>A (p.Ile748Asn) | |
13 | g.108209039T>A | CA388613732 | LIG4 | c.2029A>T (p.Ile677Phe) c.2230A>T (p.Ile744Phe) c.2266A>T (p.Ile756Phe) c.2242A>T (p.Ile748Phe) | |
13 | g.108209039T>C | CA388613731 | LIG4 | c.2029A>G (p.Ile677Val) c.2230A>G (p.Ile744Val) c.2266A>G (p.Ile756Val) c.2242A>G (p.Ile748Val) | |
13 | g.108209039T>G | CA388613730 | LIG4 | c.2029A>C (p.Ile677Leu) c.2230A>C (p.Ile744Leu) c.2266A>C (p.Ile756Leu) c.2242A>C (p.Ile748Leu) | |
13 | g.108209040C>A | CA388613733 | LIG4 | c.2028G>T (p.Met676Ile) c.2229G>T (p.Met743Ile) c.2265G>T (p.Met755Ile) c.2241G>T (p.Met747Ile) | |
13 | g.108209040C>G | CA388613735 | LIG4 | c.2028G>C (p.Met676Ile) c.2229G>C (p.Met743Ile) c.2265G>C (p.Met755Ile) c.2241G>C (p.Met747Ile) | |
13 | g.108209040C>T | CA388613734 | LIG4 | c.2028G>A (p.Met676Ile) c.2229G>A (p.Met743Ile) c.2265G>A (p.Met755Ile) c.2241G>A (p.Met747Ile) | gnomAD v4 |
13 | g.108209040dup | CA2842528007 | LIG4 | c.2028dup (p.Ile677AspfsTer14) c.2229dup (p.Ile744AspfsTer14) c.2265dup (p.Ile756AspfsTer14) c.2241dup (p.Ile748AspfsTer14) |