Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
13 | g.108209040_108209041insTTT | CA2623644097 | LIG4 | c.2027_2028insAAA (p.Met676delinsIleLys) c.2228_2229insAAA (p.Met743delinsIleLys) c.2264_2265insAAA (p.Met755delinsIleLys) c.2240_2241insAAA (p.Met747delinsIleLys) | gnomAD v4 |
13 | g.108209041A>C | CA388613736 | LIG4 | c.2027T>G (p.Met676Arg) c.2228T>G (p.Met743Arg) c.2264T>G (p.Met755Arg) c.2240T>G (p.Met747Arg) | |
13 | g.108209041A>G | CA388613737 | LIG4 | c.2027T>C (p.Met676Thr) c.2228T>C (p.Met743Thr) c.2264T>C (p.Met755Thr) c.2240T>C (p.Met747Thr) | |
13 | g.108209041A>T | CA388613738 | LIG4 | c.2027T>A (p.Met676Lys) c.2228T>A (p.Met743Lys) c.2264T>A (p.Met755Lys) c.2240T>A (p.Met747Lys) | |
13 | g.108209042T>A | CA388613739 | LIG4 | c.2026A>T (p.Met676Leu) c.2227A>T (p.Met743Leu) c.2263A>T (p.Met755Leu) c.2239A>T (p.Met747Leu) | |
13 | g.108209042T>C | CA388613740 | LIG4 | c.2026A>G (p.Met676Val) c.2227A>G (p.Met743Val) c.2263A>G (p.Met755Val) c.2239A>G (p.Met747Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209042T>G | CA388613741 | LIG4 | c.2026A>C (p.Met676Leu) c.2227A>C (p.Met743Leu) c.2263A>C (p.Met755Leu) c.2239A>C (p.Met747Leu) | |
13 | g.108209042T= | CA2117794024 | LIG4 | c.2026A= (p.Met676=) c.2227A= (p.Met743=) c.2263A= (p.Met755=) c.2239A= (p.Met747=) | |
13 | g.108209043A>C | CA388613743 | LIG4 | c.2025T>G (p.Phe675Leu) c.2226T>G (p.Phe742Leu) c.2262T>G (p.Phe754Leu) c.2238T>G (p.Phe746Leu) | |
13 | g.108209043A>G | CA484975017 | LIG4 | c.2025T>C (p.Phe675=) c.2226T>C (p.Phe742=) c.2262T>C (p.Phe754=) c.2238T>C (p.Phe746=) | |
13 | g.108209043A>T | CA388613742 | LIG4 | c.2025T>A (p.Phe675Leu) c.2226T>A (p.Phe742Leu) c.2262T>A (p.Phe754Leu) c.2238T>A (p.Phe746Leu) | gnomAD v4 |
13 | g.108209044A>C | CA388613744 | LIG4 | c.2024T>G (p.Phe675Cys) c.2225T>G (p.Phe742Cys) c.2261T>G (p.Phe754Cys) c.2237T>G (p.Phe746Cys) | COSMIC |
13 | g.108209044A>G | CA388613745 | LIG4 | c.2024T>C (p.Phe675Ser) c.2225T>C (p.Phe742Ser) c.2261T>C (p.Phe754Ser) c.2237T>C (p.Phe746Ser) | gnomAD v4 |
13 | g.108209044A>T | CA388613746 | LIG4 | c.2024T>A (p.Phe675Tyr) c.2225T>A (p.Phe742Tyr) c.2261T>A (p.Phe754Tyr) c.2237T>A (p.Phe746Tyr) | |
13 | g.108209045A= | CA2117794025 | LIG4 | c.2023T= (p.Phe675=) c.2224T= (p.Phe742=) c.2260T= (p.Phe754=) c.2236T= (p.Phe746=) | |
13 | g.108209045A>C | CA388613747 | LIG4 | c.2023T>G (p.Phe675Val) c.2224T>G (p.Phe742Val) c.2260T>G (p.Phe754Val) c.2236T>G (p.Phe746Val) | |
13 | g.108209045A>G | CA388613748 | LIG4 | c.2023T>C (p.Phe675Leu) c.2224T>C (p.Phe742Leu) c.2260T>C (p.Phe754Leu) c.2236T>C (p.Phe746Leu) | ClinVar dbSNP |
13 | g.108209045A>T | CA388613749 | LIG4 | c.2023T>A (p.Phe675Ile) c.2224T>A (p.Phe742Ile) c.2260T>A (p.Phe754Ile) c.2236T>A (p.Phe746Ile) | |
13 | g.108209046G>A | CA484975026 | LIG4 | c.2022C>T (p.Arg674=) c.2223C>T (p.Arg741=) c.2259C>T (p.Arg753=) c.2235C>T (p.Arg745=) | |
13 | g.108209046G>C | CA484975022 | LIG4 | c.2022C>G (p.Arg674=) c.2223C>G (p.Arg741=) c.2259C>G (p.Arg753=) c.2235C>G (p.Arg745=) | |
13 | g.108209046G>T | CA484975024 | LIG4 | c.2022C>A (p.Arg674=) c.2223C>A (p.Arg741=) c.2259C>A (p.Arg753=) c.2235C>A (p.Arg745=) | |
13 | g.108209047C>A | CA388613750 | LIG4 | c.2021G>T (p.Arg674Leu) c.2222G>T (p.Arg741Leu) c.2258G>T (p.Arg753Leu) c.2234G>T (p.Arg745Leu) | gnomAD v4 |
13 | g.108209047C= | CA2117794026 | LIG4 | c.2021G= (p.Arg674=) c.2222G= (p.Arg741=) c.2258G= (p.Arg753=) c.2234G= (p.Arg745=) | |
13 | g.108209047C>G | CA388613751 | LIG4 | c.2021G>C (p.Arg674Pro) c.2222G>C (p.Arg741Pro) c.2258G>C (p.Arg753Pro) c.2234G>C (p.Arg745Pro) | |
13 | g.108209047C>T | CA7043543 | LIG4 | c.2021G>A (p.Arg674His) c.2222G>A (p.Arg741His) c.2258G>A (p.Arg753His) c.2234G>A (p.Arg745His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108209048G>A | CA7043544 | LIG4 | c.2020C>T (p.Arg674Cys) c.2221C>T (p.Arg741Cys) c.2257C>T (p.Arg753Cys) c.2233C>T (p.Arg745Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209048G>C | CA388613752 | LIG4 | c.2020C>G (p.Arg674Gly) c.2221C>G (p.Arg741Gly) c.2257C>G (p.Arg753Gly) c.2233C>G (p.Arg745Gly) | |
13 | g.108209048G= | CA2117794027 | LIG4 | c.2020C= (p.Arg674=) c.2221C= (p.Arg741=) c.2257C= (p.Arg753=) c.2233C= (p.Arg745=) | |
13 | g.108209048G>T | CA388613753 | LIG4 | c.2020C>A (p.Arg674Ser) c.2221C>A (p.Arg741Ser) c.2257C>A (p.Arg753Ser) c.2233C>A (p.Arg745Ser) | |
13 | g.108209049A>C | CA484975031 | LIG4 | c.2019T>G (p.Pro673=) c.2220T>G (p.Pro740=) c.2256T>G (p.Pro752=) c.2232T>G (p.Pro744=) | |
13 | g.108209049A>G | CA484975033 | LIG4 | c.2019T>C (p.Pro673=) c.2220T>C (p.Pro740=) c.2256T>C (p.Pro752=) c.2232T>C (p.Pro744=) | |
13 | g.108209049A>T | CA484975034 | LIG4 | c.2019T>A (p.Pro673=) c.2220T>A (p.Pro740=) c.2256T>A (p.Pro752=) c.2232T>A (p.Pro744=) | |
13 | g.108209050G>A | CA388613754 | LIG4 | c.2018C>T (p.Pro673Leu) c.2219C>T (p.Pro740Leu) c.2255C>T (p.Pro752Leu) c.2231C>T (p.Pro744Leu) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209050G>C | CA388613755 | LIG4 | c.2018C>G (p.Pro673Arg) c.2219C>G (p.Pro740Arg) c.2255C>G (p.Pro752Arg) c.2231C>G (p.Pro744Arg) | gnomAD v4 |
13 | g.108209050G= | CA2117794028 | LIG4 | c.2018C= (p.Pro673=) c.2219C= (p.Pro740=) c.2255C= (p.Pro752=) c.2231C= (p.Pro744=) | |
13 | g.108209050G>T | CA388613756 | LIG4 | c.2018C>A (p.Pro673His) c.2219C>A (p.Pro740His) c.2255C>A (p.Pro752His) c.2231C>A (p.Pro744His) | |
13 | g.108209051G>A | CA388613757 | LIG4 | c.2017C>T (p.Pro673Ser) c.2218C>T (p.Pro740Ser) c.2254C>T (p.Pro752Ser) c.2230C>T (p.Pro744Ser) | |
13 | g.108209051G>C | CA388613758 | LIG4 | c.2017C>G (p.Pro673Ala) c.2218C>G (p.Pro740Ala) c.2254C>G (p.Pro752Ala) c.2230C>G (p.Pro744Ala) | |
13 | g.108209051G>T | CA388613759 | LIG4 | c.2017C>A (p.Pro673Thr) c.2218C>A (p.Pro740Thr) c.2254C>A (p.Pro752Thr) c.2230C>A (p.Pro744Thr) | gnomAD v4 |
13 | g.108209052C>A | CA388613760 | LIG4 | c.2016G>T (p.Gln672His) c.2217G>T (p.Gln739His) c.2253G>T (p.Gln751His) c.2229G>T (p.Gln743His) | |
13 | g.108209052C>G | CA388613761 | LIG4 | c.2016G>C (p.Gln672His) c.2217G>C (p.Gln739His) c.2253G>C (p.Gln751His) c.2229G>C (p.Gln743His) | |
13 | g.108209052C>T | CA484975039 | LIG4 | c.2016G>A (p.Gln672=) c.2217G>A (p.Gln739=) c.2253G>A (p.Gln751=) c.2229G>A (p.Gln743=) | |
13 | g.108209053T>A | CA388613762 | LIG4 | c.2015A>T (p.Gln672Leu) c.2216A>T (p.Gln739Leu) c.2252A>T (p.Gln751Leu) c.2228A>T (p.Gln743Leu) | |
13 | g.108209053T>C | CA388613764 | LIG4 | c.2015A>G (p.Gln672Arg) c.2216A>G (p.Gln739Arg) c.2252A>G (p.Gln751Arg) c.2228A>G (p.Gln743Arg) | |
13 | g.108209053T>G | CA388613763 | LIG4 | c.2015A>C (p.Gln672Pro) c.2216A>C (p.Gln739Pro) c.2252A>C (p.Gln751Pro) c.2228A>C (p.Gln743Pro) | ClinVar |
13 | g.108209054G>A | CA388613765 | LIG4 | c.2014C>T (p.Gln672Ter) c.2215C>T (p.Gln739Ter) c.2251C>T (p.Gln751Ter) c.2227C>T (p.Gln743Ter) | |
13 | g.108209054G>C | CA388613766 | LIG4 | c.2014C>G (p.Gln672Glu) c.2215C>G (p.Gln739Glu) c.2251C>G (p.Gln751Glu) c.2227C>G (p.Gln743Glu) | |
13 | g.108209054G>T | CA388613767 | LIG4 | c.2014C>A (p.Gln672Lys) c.2215C>A (p.Gln739Lys) c.2251C>A (p.Gln751Lys) c.2227C>A (p.Gln743Lys) | |
13 | g.108209055C>A | CA388613768 | LIG4 | c.2013G>T (p.Trp671Cys) c.2214G>T (p.Trp738Cys) c.2250G>T (p.Trp750Cys) c.2226G>T (p.Trp742Cys) | gnomAD v3 gnomAD v4 |
13 | g.108209055C>G | CA388613769 | LIG4 | c.2013G>C (p.Trp671Cys) c.2214G>C (p.Trp738Cys) c.2250G>C (p.Trp750Cys) c.2226G>C (p.Trp742Cys) | |
13 | g.108209055C>T | CA388613770 | LIG4 | c.2013G>A (p.Trp671Ter) c.2214G>A (p.Trp738Ter) c.2250G>A (p.Trp750Ter) c.2226G>A (p.Trp742Ter) | |
13 | g.108209056C>A | CA388613771 | LIG4 | c.2012G>T (p.Trp671Leu) c.2213G>T (p.Trp738Leu) c.2249G>T (p.Trp750Leu) c.2225G>T (p.Trp742Leu) | |
13 | g.108209056C>G | CA388613772 | LIG4 | c.2012G>C (p.Trp671Ser) c.2213G>C (p.Trp738Ser) c.2249G>C (p.Trp750Ser) c.2225G>C (p.Trp742Ser) | |
13 | g.108209056C>T | CA388613773 | LIG4 | c.2012G>A (p.Trp671Ter) c.2213G>A (p.Trp738Ter) c.2249G>A (p.Trp750Ter) c.2225G>A (p.Trp742Ter) | |
13 | g.108209056_108209057delinsAT | CA2580087251 | LIG4 | c.2011_2012delinsAT (p.Trp671Met) c.2212_2213delinsAT (p.Trp738Met) c.2248_2249delinsAT (p.Trp750Met) c.2224_2225delinsAT (p.Trp742Met) | ClinVar |
13 | g.108209057A= | CA2117794029 | LIG4 | c.2011T= (p.Trp671=) c.2212T= (p.Trp738=) c.2248T= (p.Trp750=) c.2224T= (p.Trp742=) | |
13 | g.108209057A>C | CA388613774 | LIG4 | c.2011T>G (p.Trp671Gly) c.2212T>G (p.Trp738Gly) c.2248T>G (p.Trp750Gly) c.2224T>G (p.Trp742Gly) | ClinVar dbSNP |
13 | g.108209057A>G | CA388613775 | LIG4 | c.2011T>C (p.Trp671Arg) c.2212T>C (p.Trp738Arg) c.2248T>C (p.Trp750Arg) c.2224T>C (p.Trp742Arg) | |
13 | g.108209057A>T | CA388613776 | LIG4 | c.2011T>A (p.Trp671Arg) c.2212T>A (p.Trp738Arg) c.2248T>A (p.Trp750Arg) c.2224T>A (p.Trp742Arg) | |
13 | g.108209058T>A | CA484975044 | LIG4 | c.2010A>T (p.Pro670=) c.2211A>T (p.Pro737=) c.2247A>T (p.Pro749=) c.2223A>T (p.Pro741=) | |
13 | g.108209058T>C | CA256179917 | LIG4 | c.2010A>G (p.Pro670=) c.2211A>G (p.Pro737=) c.2247A>G (p.Pro749=) c.2223A>G (p.Pro741=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209058T>G | CA484975046 | LIG4 | c.2010A>C (p.Pro670=) c.2211A>C (p.Pro737=) c.2247A>C (p.Pro749=) c.2223A>C (p.Pro741=) | gnomAD v4 |
13 | g.108209058T= | CA2117794030 | LIG4 | c.2010A= (p.Pro670=) c.2211A= (p.Pro737=) c.2247A= (p.Pro749=) c.2223A= (p.Pro741=) | |
13 | g.108209059G>A | CA256179928 | LIG4 | c.2009C>T (p.Pro670Leu) c.2210C>T (p.Pro737Leu) c.2246C>T (p.Pro749Leu) c.2222C>T (p.Pro741Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209059G>C | CA388613777 | LIG4 | c.2009C>G (p.Pro670Arg) c.2210C>G (p.Pro737Arg) c.2246C>G (p.Pro749Arg) c.2222C>G (p.Pro741Arg) | |
13 | g.108209059G= | CA2117794031 | LIG4 | c.2009C= (p.Pro670=) c.2210C= (p.Pro737=) c.2246C= (p.Pro749=) c.2222C= (p.Pro741=) | |
13 | g.108209059G>T | CA388613778 | LIG4 | c.2009C>A (p.Pro670Gln) c.2210C>A (p.Pro737Gln) c.2246C>A (p.Pro749Gln) c.2222C>A (p.Pro741Gln) | |
13 | g.108209060G>A | CA388613779 | LIG4 | c.2008C>T (p.Pro670Ser) c.2209C>T (p.Pro737Ser) c.2245C>T (p.Pro749Ser) c.2221C>T (p.Pro741Ser) | gnomAD v4 |
13 | g.108209060G>C | CA388613780 | LIG4 | c.2008C>G (p.Pro670Ala) c.2209C>G (p.Pro737Ala) c.2245C>G (p.Pro749Ala) c.2221C>G (p.Pro741Ala) | |
13 | g.108209060G>T | CA388613781 | LIG4 | c.2008C>A (p.Pro670Thr) c.2209C>A (p.Pro737Thr) c.2245C>A (p.Pro749Thr) c.2221C>A (p.Pro741Thr) | |
13 | g.108209061T>A | CA484975050 | LIG4 | c.2007A>T (p.Val669=) c.2208A>T (p.Val736=) c.2244A>T (p.Val748=) c.2220A>T (p.Val740=) | |
13 | g.108209061T>C | CA484975052 | LIG4 | c.2007A>G (p.Val669=) c.2208A>G (p.Val736=) c.2244A>G (p.Val748=) c.2220A>G (p.Val740=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209061T>G | CA484975054 | LIG4 | c.2007A>C (p.Val669=) c.2208A>C (p.Val736=) c.2244A>C (p.Val748=) c.2220A>C (p.Val740=) | |
13 | g.108209061T= | CA2117794032 | LIG4 | c.2007A= (p.Val669=) c.2208A= (p.Val736=) c.2244A= (p.Val748=) c.2220A= (p.Val740=) | |
13 | g.108209062A>C | CA388613782 | LIG4 | c.2006T>G (p.Val669Gly) c.2207T>G (p.Val736Gly) c.2243T>G (p.Val748Gly) c.2219T>G (p.Val740Gly) | |
13 | g.108209062A>G | CA388613783 | LIG4 | c.2006T>C (p.Val669Ala) c.2207T>C (p.Val736Ala) c.2243T>C (p.Val748Ala) c.2219T>C (p.Val740Ala) | |
13 | g.108209062A>T | CA388613784 | LIG4 | c.2006T>A (p.Val669Glu) c.2207T>A (p.Val736Glu) c.2243T>A (p.Val748Glu) c.2219T>A (p.Val740Glu) | gnomAD v4 |
13 | g.108209063C>A | CA388613785 | LIG4 | c.2005G>T (p.Val669Leu) c.2206G>T (p.Val736Leu) c.2242G>T (p.Val748Leu) c.2218G>T (p.Val740Leu) | |
13 | g.108209063C>G | CA388613786 | LIG4 | c.2005G>C (p.Val669Leu) c.2206G>C (p.Val736Leu) c.2242G>C (p.Val748Leu) c.2218G>C (p.Val740Leu) | |
13 | g.108209063C>T | CA388613787 | LIG4 | c.2005G>A (p.Val669Ile) c.2206G>A (p.Val736Ile) c.2242G>A (p.Val748Ile) c.2218G>A (p.Val740Ile) | |
13 | g.108209064A>C | CA388613788 | LIG4 | c.2004T>G (p.Phe668Leu) c.2205T>G (p.Phe735Leu) c.2241T>G (p.Phe747Leu) c.2217T>G (p.Phe739Leu) | |
13 | g.108209064A>G | CA484975059 | LIG4 | c.2004T>C (p.Phe668=) c.2205T>C (p.Phe735=) c.2241T>C (p.Phe747=) c.2217T>C (p.Phe739=) | |
13 | g.108209064A>T | CA388613789 | LIG4 | c.2004T>A (p.Phe668Leu) c.2205T>A (p.Phe735Leu) c.2241T>A (p.Phe747Leu) c.2217T>A (p.Phe739Leu) | |
13 | g.108209065A>C | CA388613791 | LIG4 | c.2003T>G (p.Phe668Cys) c.2204T>G (p.Phe735Cys) c.2240T>G (p.Phe747Cys) c.2216T>G (p.Phe739Cys) | |
13 | g.108209065A>G | CA388613792 | LIG4 | c.2003T>C (p.Phe668Ser) c.2204T>C (p.Phe735Ser) c.2240T>C (p.Phe747Ser) c.2216T>C (p.Phe739Ser) | |
13 | g.108209065A>T | CA388613790 | LIG4 | c.2003T>A (p.Phe668Tyr) c.2204T>A (p.Phe735Tyr) c.2240T>A (p.Phe747Tyr) c.2216T>A (p.Phe739Tyr) | |
13 | g.108209066A= | CA2117794033 | LIG4 | c.2002T= (p.Phe668=) c.2203T= (p.Phe735=) c.2239T= (p.Phe747=) c.2215T= (p.Phe739=) | |
13 | g.108209066A>C | CA388613795 | LIG4 | c.2002T>G (p.Phe668Val) c.2203T>G (p.Phe735Val) c.2239T>G (p.Phe747Val) c.2215T>G (p.Phe739Val) | dbSNP |
13 | g.108209066A>G | CA388613793 | LIG4 | c.2002T>C (p.Phe668Leu) c.2203T>C (p.Phe735Leu) c.2239T>C (p.Phe747Leu) c.2215T>C (p.Phe739Leu) | gnomAD v4 |
13 | g.108209066A>T | CA388613794 | LIG4 | c.2002T>A (p.Phe668Ile) c.2203T>A (p.Phe735Ile) c.2239T>A (p.Phe747Ile) c.2215T>A (p.Phe739Ile) | |
13 | g.108209067G>A | CA7043545 | LIG4 | c.2001C>T (p.Ser667=) c.2202C>T (p.Ser734=) c.2238C>T (p.Ser746=) c.2214C>T (p.Ser738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209067G>C | CA388613796 | LIG4 | c.2001C>G (p.Ser667Arg) c.2202C>G (p.Ser734Arg) c.2238C>G (p.Ser746Arg) c.2214C>G (p.Ser738Arg) | |
13 | g.108209067G= | CA2117794034 | LIG4 | c.2001C= (p.Ser667=) c.2202C= (p.Ser734=) c.2238C= (p.Ser746=) c.2214C= (p.Ser738=) | |
13 | g.108209067G>T | CA388613797 | LIG4 | c.2001C>A (p.Ser667Arg) c.2202C>A (p.Ser734Arg) c.2238C>A (p.Ser746Arg) c.2214C>A (p.Ser738Arg) | COSMIC |
13 | g.108209068C>A | CA388613798 | LIG4 | c.2000G>T (p.Ser667Ile) c.2201G>T (p.Ser734Ile) c.2237G>T (p.Ser746Ile) c.2213G>T (p.Ser738Ile) | |
13 | g.108209068C= | CA2117794035 | LIG4 | c.2000G= (p.Ser667=) c.2201G= (p.Ser734=) c.2237G= (p.Ser746=) c.2213G= (p.Ser738=) | |
13 | g.108209068C>G | CA388613799 | LIG4 | c.2000G>C (p.Ser667Thr) c.2201G>C (p.Ser734Thr) c.2237G>C (p.Ser746Thr) c.2213G>C (p.Ser738Thr) | |
13 | g.108209068C>T | CA7043546 | LIG4 | c.2000G>A (p.Ser667Asn) c.2201G>A (p.Ser734Asn) c.2237G>A (p.Ser746Asn) c.2213G>A (p.Ser738Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108209069T>A | CA388613800 | LIG4 | c.1999A>T (p.Ser667Cys) c.2200A>T (p.Ser734Cys) c.2236A>T (p.Ser746Cys) c.2212A>T (p.Ser738Cys) | |
13 | g.108209069T>C | CA388613801 | LIG4 | c.1999A>G (p.Ser667Gly) c.2200A>G (p.Ser734Gly) c.2236A>G (p.Ser746Gly) c.2212A>G (p.Ser738Gly) | |
13 | g.108209069T>G | CA388613802 | LIG4 | c.1999A>C (p.Ser667Arg) c.2200A>C (p.Ser734Arg) c.2236A>C (p.Ser746Arg) c.2212A>C (p.Ser738Arg) | gnomAD v4 |
13 | g.108209070T>A | CA388613803 | LIG4 | c.1998A>T (p.Lys666Asn) c.2199A>T (p.Lys733Asn) c.2235A>T (p.Lys745Asn) c.2211A>T (p.Lys737Asn) | |
13 | g.108209070T>C | CA484975066 | LIG4 | c.1998A>G (p.Lys666=) c.2199A>G (p.Lys733=) c.2235A>G (p.Lys745=) c.2211A>G (p.Lys737=) | |
13 | g.108209070T>G | CA388613804 | LIG4 | c.1998A>C (p.Lys666Asn) c.2199A>C (p.Lys733Asn) c.2235A>C (p.Lys745Asn) c.2211A>C (p.Lys737Asn) | |
13 | g.108209071T>A | CA388613805 | LIG4 | c.1997A>T (p.Lys666Ile) c.2198A>T (p.Lys733Ile) c.2234A>T (p.Lys745Ile) c.2210A>T (p.Lys737Ile) | |
13 | g.108209071T>C | CA388613807 | LIG4 | c.1997A>G (p.Lys666Arg) c.2198A>G (p.Lys733Arg) c.2234A>G (p.Lys745Arg) c.2210A>G (p.Lys737Arg) | |
13 | g.108209071T>G | CA388613806 | LIG4 | c.1997A>C (p.Lys666Thr) c.2198A>C (p.Lys733Thr) c.2234A>C (p.Lys745Thr) c.2210A>C (p.Lys737Thr) | |
13 | g.108209072T>A | CA388613808 | LIG4 | c.1996A>T (p.Lys666Ter) c.2197A>T (p.Lys733Ter) c.2233A>T (p.Lys745Ter) c.2209A>T (p.Lys737Ter) | |
13 | g.108209072T>C | CA7043547 | LIG4 | c.1996A>G (p.Lys666Glu) c.2197A>G (p.Lys733Glu) c.2233A>G (p.Lys745Glu) c.2209A>G (p.Lys737Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209072T>G | CA388613809 | LIG4 | c.1996A>C (p.Lys666Gln) c.2197A>C (p.Lys733Gln) c.2233A>C (p.Lys745Gln) c.2209A>C (p.Lys737Gln) | |
13 | g.108209072T= | CA2117794036 | LIG4 | c.1996A= (p.Lys666=) c.2197A= (p.Lys733=) c.2233A= (p.Lys745=) c.2209A= (p.Lys737=) | |
13 | g.108209073G>A | CA484975068 | LIG4 | c.1995C>T (p.Thr665=) c.2196C>T (p.Thr732=) c.2232C>T (p.Thr744=) c.2208C>T (p.Thr736=) | |
13 | g.108209073G>C | CA484975070 | LIG4 | c.1995C>G (p.Thr665=) c.2196C>G (p.Thr732=) c.2232C>G (p.Thr744=) c.2208C>G (p.Thr736=) | |
13 | g.108209073G>T | CA484975072 | LIG4 | c.1995C>A (p.Thr665=) c.2196C>A (p.Thr732=) c.2232C>A (p.Thr744=) c.2208C>A (p.Thr736=) | |
13 | g.108209074G>A | CA388613810 | LIG4 | c.1994C>T (p.Thr665Ile) c.2195C>T (p.Thr732Ile) c.2231C>T (p.Thr744Ile) c.2207C>T (p.Thr736Ile) | |
13 | g.108209074G>C | CA388613811 | LIG4 | c.1994C>G (p.Thr665Ser) c.2195C>G (p.Thr732Ser) c.2231C>G (p.Thr744Ser) c.2207C>G (p.Thr736Ser) | |
13 | g.108209074G= | CA2117794037 | LIG4 | c.1994C= (p.Thr665=) c.2195C= (p.Thr732=) c.2231C= (p.Thr744=) c.2207C= (p.Thr736=) | |
13 | g.108209074G>T | CA7043548 | LIG4 | c.1994C>A (p.Thr665Asn) c.2195C>A (p.Thr732Asn) c.2231C>A (p.Thr744Asn) c.2207C>A (p.Thr736Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209075T>A | CA388613812 | LIG4 | c.1993A>T (p.Thr665Ser) c.2194A>T (p.Thr732Ser) c.2230A>T (p.Thr744Ser) c.2206A>T (p.Thr736Ser) | |
13 | g.108209075T>C | CA388613813 | LIG4 | c.1993A>G (p.Thr665Ala) c.2194A>G (p.Thr732Ala) c.2230A>G (p.Thr744Ala) c.2206A>G (p.Thr736Ala) | |
13 | g.108209075T>G | CA388613814 | LIG4 | c.1993A>C (p.Thr665Pro) c.2194A>C (p.Thr732Pro) c.2230A>C (p.Thr744Pro) c.2206A>C (p.Thr736Pro) | |
13 | g.108209076C>A | CA388613815 | LIG4 | c.1992G>T (p.Lys664Asn) c.2193G>T (p.Lys731Asn) c.2229G>T (p.Lys743Asn) c.2205G>T (p.Lys735Asn) | |
13 | g.108209076C= | CA2117794038 | LIG4 | c.1992G= (p.Lys664=) c.2193G= (p.Lys731=) c.2229G= (p.Lys743=) c.2205G= (p.Lys735=) | |
13 | g.108209076C>G | CA388613816 | LIG4 | c.1992G>C (p.Lys664Asn) c.2193G>C (p.Lys731Asn) c.2229G>C (p.Lys743Asn) c.2205G>C (p.Lys735Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.108209076C>T | CA484975074 | LIG4 | c.1992G>A (p.Lys664=) c.2193G>A (p.Lys731=) c.2229G>A (p.Lys743=) c.2205G>A (p.Lys735=) | |
13 | g.108209077T>A | CA388613818 | LIG4 | c.1991A>T (p.Lys664Met) c.2192A>T (p.Lys731Met) c.2228A>T (p.Lys743Met) c.2204A>T (p.Lys735Met) | |
13 | g.108209077T>C | CA388613819 | LIG4 | c.1991A>G (p.Lys664Arg) c.2192A>G (p.Lys731Arg) c.2228A>G (p.Lys743Arg) c.2204A>G (p.Lys735Arg) | gnomAD v4 |
13 | g.108209077T>G | CA388613817 | LIG4 | c.1991A>C (p.Lys664Thr) c.2192A>C (p.Lys731Thr) c.2228A>C (p.Lys743Thr) c.2204A>C (p.Lys735Thr) | |
13 | g.108209078T>A | CA388613820 | LIG4 | c.1990A>T (p.Lys664Ter) c.2191A>T (p.Lys731Ter) c.2227A>T (p.Lys743Ter) c.2203A>T (p.Lys735Ter) | |
13 | g.108209078T>C | CA388613821 | LIG4 | c.1990A>G (p.Lys664Glu) c.2191A>G (p.Lys731Glu) c.2227A>G (p.Lys743Glu) c.2203A>G (p.Lys735Glu) | |
13 | g.108209078T>G | CA388613822 | LIG4 | c.1990A>C (p.Lys664Gln) c.2191A>C (p.Lys731Gln) c.2227A>C (p.Lys743Gln) c.2203A>C (p.Lys735Gln) | |
13 | g.108209079A= | CA2117794039 | LIG4 | c.1989T= (p.Phe663=) c.2190T= (p.Phe730=) c.2226T= (p.Phe742=) c.2202T= (p.Phe734=) | |
13 | g.108209079A>C | CA388613823 | LIG4 | c.1989T>G (p.Phe663Leu) c.2190T>G (p.Phe730Leu) c.2226T>G (p.Phe742Leu) c.2202T>G (p.Phe734Leu) | |
13 | g.108209079A>G | CA484975082 | LIG4 | c.1989T>C (p.Phe663=) c.2190T>C (p.Phe730=) c.2226T>C (p.Phe742=) c.2202T>C (p.Phe734=) | dbSNP |
13 | g.108209079A>T | CA388613824 | LIG4 | c.1989T>A (p.Phe663Leu) c.2190T>A (p.Phe730Leu) c.2226T>A (p.Phe742Leu) c.2202T>A (p.Phe734Leu) | |
13 | g.108209082del | CA2575452312 | LIG4 | c.1989del (p.Phe663LeufsTer14) c.2190del (p.Phe730LeufsTer14) c.2226del (p.Phe742LeufsTer14) c.2202del (p.Phe734LeufsTer14) | ClinVar |