Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
13 | g.108209080A>C | CA388613825 | LIG4 | c.1988T>G (p.Phe663Cys) c.2189T>G (p.Phe730Cys) c.2225T>G (p.Phe742Cys) c.2201T>G (p.Phe734Cys) | ClinVar gnomAD v4 |
13 | g.108209080A>G | CA388613826 | LIG4 | c.1988T>C (p.Phe663Ser) c.2189T>C (p.Phe730Ser) c.2225T>C (p.Phe742Ser) c.2201T>C (p.Phe734Ser) | |
13 | g.108209080A>T | CA388613827 | LIG4 | c.1988T>A (p.Phe663Tyr) c.2189T>A (p.Phe730Tyr) c.2225T>A (p.Phe742Tyr) c.2201T>A (p.Phe734Tyr) | |
13 | g.108209081A>C | CA388613828 | LIG4 | c.1987T>G (p.Phe663Val) c.2188T>G (p.Phe730Val) c.2224T>G (p.Phe742Val) c.2200T>G (p.Phe734Val) | |
13 | g.108209081A>G | CA388613829 | LIG4 | c.1987T>C (p.Phe663Leu) c.2188T>C (p.Phe730Leu) c.2224T>C (p.Phe742Leu) c.2200T>C (p.Phe734Leu) | |
13 | g.108209081A>T | CA388613830 | LIG4 | c.1987T>A (p.Phe663Ile) c.2188T>A (p.Phe730Ile) c.2224T>A (p.Phe742Ile) c.2200T>A (p.Phe734Ile) | |
13 | g.108209082A>C | CA388613831 | LIG4 | c.1986T>G (p.Cys662Trp) c.2187T>G (p.Cys729Trp) c.2223T>G (p.Cys741Trp) c.2199T>G (p.Cys733Trp) | |
13 | g.108209082A>G | CA484975084 | LIG4 | c.1986T>C (p.Cys662=) c.2187T>C (p.Cys729=) c.2223T>C (p.Cys741=) c.2199T>C (p.Cys733=) | |
13 | g.108209082A>T | CA388613832 | LIG4 | c.1986T>A (p.Cys662Ter) c.2187T>A (p.Cys729Ter) c.2223T>A (p.Cys741Ter) c.2199T>A (p.Cys733Ter) | |
13 | g.108209083C>A | CA388613835 | LIG4 | c.1985G>T (p.Cys662Phe) c.2186G>T (p.Cys729Phe) c.2222G>T (p.Cys741Phe) c.2198G>T (p.Cys733Phe) | |
13 | g.108209083C>G | CA388613834 | LIG4 | c.1985G>C (p.Cys662Ser) c.2186G>C (p.Cys729Ser) c.2222G>C (p.Cys741Ser) c.2198G>C (p.Cys733Ser) | |
13 | g.108209083C>T | CA388613833 | LIG4 | c.1985G>A (p.Cys662Tyr) c.2186G>A (p.Cys729Tyr) c.2222G>A (p.Cys741Tyr) c.2198G>A (p.Cys733Tyr) | |
13 | g.108209084A>C | CA388613836 | LIG4 | c.1984T>G (p.Cys662Gly) c.2185T>G (p.Cys729Gly) c.2221T>G (p.Cys741Gly) c.2197T>G (p.Cys733Gly) | |
13 | g.108209084A>G | CA388613837 | LIG4 | c.1984T>C (p.Cys662Arg) c.2185T>C (p.Cys729Arg) c.2221T>C (p.Cys741Arg) c.2197T>C (p.Cys733Arg) | |
13 | g.108209084A>T | CA388613838 | LIG4 | c.1984T>A (p.Cys662Ser) c.2185T>A (p.Cys729Ser) c.2221T>A (p.Cys741Ser) c.2197T>A (p.Cys733Ser) | |
13 | g.108209084_108209085delinsAT | CA2117794040 | LIG4 | c.1983_1984delinsAT (p.Glu661=) c.2184_2185delinsAT (p.Glu728=) c.2220_2221delinsAT (p.Glu740=) c.2196_2197delinsAT (p.Glu732=) | |
13 | g.108209085T>A | CA388613839 | LIG4 | c.1983A>T (p.Glu661Asp) c.2184A>T (p.Glu728Asp) c.2220A>T (p.Glu740Asp) c.2196A>T (p.Glu732Asp) | |
13 | g.108209085T>C | CA484975086 | LIG4 | c.1983A>G (p.Glu661=) c.2184A>G (p.Glu728=) c.2220A>G (p.Glu740=) c.2196A>G (p.Glu732=) | gnomAD v3 gnomAD v4 |
13 | g.108209085T>G | CA388613840 | LIG4 | c.1983A>C (p.Glu661Asp) c.2184A>C (p.Glu728Asp) c.2220A>C (p.Glu740Asp) c.2196A>C (p.Glu732Asp) | |
13 | g.108209086del | CA7043549 | LIG4 | c.1983del (p.Glu661AspfsTer16) c.2184del (p.Glu728AspfsTer16) c.2220del (p.Glu740AspfsTer16) c.2196del (p.Glu732AspfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209086T>A | CA388613841 | LIG4 | c.1982A>T (p.Glu661Val) c.2183A>T (p.Glu728Val) c.2219A>T (p.Glu740Val) c.2195A>T (p.Glu732Val) | |
13 | g.108209086T>C | CA388613842 | LIG4 | c.1982A>G (p.Glu661Gly) c.2183A>G (p.Glu728Gly) c.2219A>G (p.Glu740Gly) c.2195A>G (p.Glu732Gly) | dbSNP |
13 | g.108209086T>G | CA388613843 | LIG4 | c.1982A>C (p.Glu661Ala) c.2183A>C (p.Glu728Ala) c.2219A>C (p.Glu740Ala) c.2195A>C (p.Glu732Ala) | |
13 | g.108209087C>A | CA388613844 | LIG4 | c.1981G>T (p.Glu661Ter) c.2182G>T (p.Glu728Ter) c.2218G>T (p.Glu740Ter) c.2194G>T (p.Glu732Ter) | |
13 | g.108209087C= | CA2117794041 | LIG4 | c.1981G= (p.Glu661=) c.2182G= (p.Glu728=) c.2218G= (p.Glu740=) c.2194G= (p.Glu732=) | |
13 | g.108209087C>G | CA388613845 | LIG4 | c.1981G>C (p.Glu661Gln) c.2182G>C (p.Glu728Gln) c.2218G>C (p.Glu740Gln) c.2194G>C (p.Glu732Gln) | |
13 | g.108209087C>T | CA7043550 | LIG4 | c.1981G>A (p.Glu661Lys) c.2182G>A (p.Glu728Lys) c.2218G>A (p.Glu740Lys) c.2194G>A (p.Glu732Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209088T>A | CA388613846 | LIG4 | c.1980A>T (p.Leu660Phe) c.2181A>T (p.Leu727Phe) c.2217A>T (p.Leu739Phe) c.2193A>T (p.Leu731Phe) | |
13 | g.108209088T>C | CA484975090 | LIG4 | c.1980A>G (p.Leu660=) c.2181A>G (p.Leu727=) c.2217A>G (p.Leu739=) c.2193A>G (p.Leu731=) | |
13 | g.108209088T>G | CA388613847 | LIG4 | c.1980A>C (p.Leu660Phe) c.2181A>C (p.Leu727Phe) c.2217A>C (p.Leu739Phe) c.2193A>C (p.Leu731Phe) | |
13 | g.108209089A= | CA2117794042 | LIG4 | c.1979T= (p.Leu660=) c.2180T= (p.Leu727=) c.2216T= (p.Leu739=) c.2192T= (p.Leu731=) | |
13 | g.108209089A>C | CA388613849 | LIG4 | c.1979T>G (p.Leu660Ter) c.2180T>G (p.Leu727Ter) c.2216T>G (p.Leu739Ter) c.2192T>G (p.Leu731Ter) | |
13 | g.108209089A>G | CA256179973 | LIG4 | c.1979T>C (p.Leu660Ser) c.2180T>C (p.Leu727Ser) c.2216T>C (p.Leu739Ser) c.2192T>C (p.Leu731Ser) | dbSNP |
13 | g.108209089A>T | CA388613848 | LIG4 | c.1979T>A (p.Leu660Ter) c.2180T>A (p.Leu727Ter) c.2216T>A (p.Leu739Ter) c.2192T>A (p.Leu731Ter) | |
13 | g.108209090A>C | CA388613851 | LIG4 | c.1978T>G (p.Leu660Val) c.2179T>G (p.Leu727Val) c.2215T>G (p.Leu739Val) c.2191T>G (p.Leu731Val) | |
13 | g.108209090A>G | CA484975091 | LIG4 | c.1978T>C (p.Leu660=) c.2179T>C (p.Leu727=) c.2215T>C (p.Leu739=) c.2191T>C (p.Leu731=) | |
13 | g.108209090A>T | CA388613850 | LIG4 | c.1978T>A (p.Leu660Ile) c.2179T>A (p.Leu727Ile) c.2215T>A (p.Leu739Ile) c.2191T>A (p.Leu731Ile) | |
13 | g.108209091A>C | CA484975198 | LIG4 | c.1977T>G (p.Leu659=) c.2178T>G (p.Leu726=) c.2214T>G (p.Leu738=) c.2190T>G (p.Leu730=) | |
13 | g.108209091A>G | CA484975200 | LIG4 | c.1977T>C (p.Leu659=) c.2178T>C (p.Leu726=) c.2214T>C (p.Leu738=) c.2190T>C (p.Leu730=) | |
13 | g.108209091A>T | CA484975201 | LIG4 | c.1977T>A (p.Leu659=) c.2178T>A (p.Leu726=) c.2214T>A (p.Leu738=) c.2190T>A (p.Leu730=) | |
13 | g.108209092A>C | CA388613853 | LIG4 | c.1976T>G (p.Leu659Arg) c.2177T>G (p.Leu726Arg) c.2213T>G (p.Leu738Arg) c.2189T>G (p.Leu730Arg) | |
13 | g.108209092A>G | CA388613852 | LIG4 | c.1976T>C (p.Leu659Pro) c.2177T>C (p.Leu726Pro) c.2213T>C (p.Leu738Pro) c.2189T>C (p.Leu730Pro) | |
13 | g.108209092A>T | CA388613854 | LIG4 | c.1976T>A (p.Leu659His) c.2177T>A (p.Leu726His) c.2213T>A (p.Leu738His) c.2189T>A (p.Leu730His) | |
13 | g.108209093G>A | CA388613855 | LIG4 | c.1975C>T (p.Leu659Phe) c.2176C>T (p.Leu726Phe) c.2212C>T (p.Leu738Phe) c.2188C>T (p.Leu730Phe) | |
13 | g.108209093G>C | CA388613856 | LIG4 | c.1975C>G (p.Leu659Val) c.2176C>G (p.Leu726Val) c.2212C>G (p.Leu738Val) c.2188C>G (p.Leu730Val) | |
13 | g.108209093G>T | CA388613857 | LIG4 | c.1975C>A (p.Leu659Ile) c.2176C>A (p.Leu726Ile) c.2212C>A (p.Leu738Ile) c.2188C>A (p.Leu730Ile) | |
13 | g.108209093_108209094delinsGC | CA2117794043 | LIG4 | c.1974_1975delinsGC (p.Trp658=) c.2175_2176delinsGC (p.Trp725=) c.2211_2212delinsGC (p.Trp737=) c.2187_2188delinsGC (p.Trp729=) | |
13 | g.108209094C>A | CA388613858 | LIG4 | c.1974G>T (p.Trp658Cys) c.2175G>T (p.Trp725Cys) c.2211G>T (p.Trp737Cys) c.2187G>T (p.Trp729Cys) | |
13 | g.108209094C>G | CA388613859 | LIG4 | c.1974G>C (p.Trp658Cys) c.2175G>C (p.Trp725Cys) c.2211G>C (p.Trp737Cys) c.2187G>C (p.Trp729Cys) | |
13 | g.108209094C>T | CA388613860 | LIG4 | c.1974G>A (p.Trp658Ter) c.2175G>A (p.Trp725Ter) c.2211G>A (p.Trp737Ter) c.2187G>A (p.Trp729Ter) | |
13 | g.108209095del | CA612360449 | LIG4 | c.1974del (p.Trp658CysfsTer3) c.2175del (p.Trp725CysfsTer3) c.2211del (p.Trp737CysfsTer3) c.2187del (p.Trp729CysfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209095C>A | CA388613863 | LIG4 | c.1973G>T (p.Trp658Leu) c.2174G>T (p.Trp725Leu) c.2210G>T (p.Trp737Leu) c.2186G>T (p.Trp729Leu) | |
13 | g.108209095C>G | CA388613862 | LIG4 | c.1973G>C (p.Trp658Ser) c.2174G>C (p.Trp725Ser) c.2210G>C (p.Trp737Ser) c.2186G>C (p.Trp729Ser) | |
13 | g.108209095C>T | CA388613861 | LIG4 | c.1973G>A (p.Trp658Ter) c.2174G>A (p.Trp725Ter) c.2210G>A (p.Trp737Ter) c.2186G>A (p.Trp729Ter) | |
13 | g.108209096A>C | CA388613864 | LIG4 | c.1972T>G (p.Trp658Gly) c.2173T>G (p.Trp725Gly) c.2209T>G (p.Trp737Gly) c.2185T>G (p.Trp729Gly) | |
13 | g.108209096A>G | CA388613865 | LIG4 | c.1972T>C (p.Trp658Arg) c.2173T>C (p.Trp725Arg) c.2209T>C (p.Trp737Arg) c.2185T>C (p.Trp729Arg) | gnomAD v4 |
13 | g.108209096A>T | CA388613866 | LIG4 | c.1972T>A (p.Trp658Arg) c.2173T>A (p.Trp725Arg) c.2209T>A (p.Trp737Arg) c.2185T>A (p.Trp729Arg) | gnomAD v4 |
13 | g.108209097T>A | CA484975210 | LIG4 | c.1971A>T (p.Ala657=) c.2172A>T (p.Ala724=) c.2208A>T (p.Ala736=) c.2184A>T (p.Ala728=) | gnomAD v4 |
13 | g.108209097T>C | CA484975212 | LIG4 | c.1971A>G (p.Ala657=) c.2172A>G (p.Ala724=) c.2208A>G (p.Ala736=) c.2184A>G (p.Ala728=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209097T>G | CA484975213 | LIG4 | c.1971A>C (p.Ala657=) c.2172A>C (p.Ala724=) c.2208A>C (p.Ala736=) c.2184A>C (p.Ala728=) | ClinVar |
13 | g.108209097T= | CA2117794044 | LIG4 | c.1971A= (p.Ala657=) c.2172A= (p.Ala724=) c.2208A= (p.Ala736=) c.2184A= (p.Ala728=) | |
13 | g.108209098G>A | CA388613867 | LIG4 | c.1970C>T (p.Ala657Val) c.2171C>T (p.Ala724Val) c.2207C>T (p.Ala736Val) c.2183C>T (p.Ala728Val) | |
13 | g.108209098G>C | CA388613868 | LIG4 | c.1970C>G (p.Ala657Gly) c.2171C>G (p.Ala724Gly) c.2207C>G (p.Ala736Gly) c.2183C>G (p.Ala728Gly) | |
13 | g.108209098G= | CA2117794045 | LIG4 | c.1970C= (p.Ala657=) c.2171C= (p.Ala724=) c.2207C= (p.Ala736=) c.2183C= (p.Ala728=) | |
13 | g.108209098G>T | CA388613869 | LIG4 | c.1970C>A (p.Ala657Glu) c.2171C>A (p.Ala724Glu) c.2207C>A (p.Ala736Glu) c.2183C>A (p.Ala728Glu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209099C>A | CA388613870 | LIG4 | c.1969G>T (p.Ala657Ser) c.2170G>T (p.Ala724Ser) c.2206G>T (p.Ala736Ser) c.2182G>T (p.Ala728Ser) | |
13 | g.108209099C>G | CA388613872 | LIG4 | c.1969G>C (p.Ala657Pro) c.2170G>C (p.Ala724Pro) c.2206G>C (p.Ala736Pro) c.2182G>C (p.Ala728Pro) | |
13 | g.108209099C>T | CA388613871 | LIG4 | c.1969G>A (p.Ala657Thr) c.2170G>A (p.Ala724Thr) c.2206G>A (p.Ala736Thr) c.2182G>A (p.Ala728Thr) | gnomAD v4 |
13 | g.108209099_108209119del | CA2623644098 | LIG4 | c.1949_1969del (p.Lys650_Ala657delinsThr) c.2150_2170del (p.Lys717_Ala724delinsThr) c.2186_2206del (p.Lys729_Ala736delinsThr) c.2162_2182del (p.Lys721_Ala728delinsThr) | gnomAD v4 |
13 | g.108209100A= | CA2117794046 | LIG4 | c.1968T= (p.Pro656=) c.2169T= (p.Pro723=) c.2205T= (p.Pro735=) c.2181T= (p.Pro727=) | |
13 | g.108209100A>C | CA484975217 | LIG4 | c.1968T>G (p.Pro656=) c.2169T>G (p.Pro723=) c.2205T>G (p.Pro735=) c.2181T>G (p.Pro727=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209100A>G | CA484975218 | LIG4 | c.1968T>C (p.Pro656=) c.2169T>C (p.Pro723=) c.2205T>C (p.Pro735=) c.2181T>C (p.Pro727=) | |
13 | g.108209100A>T | CA484975219 | LIG4 | c.1968T>A (p.Pro656=) c.2169T>A (p.Pro723=) c.2205T>A (p.Pro735=) c.2181T>A (p.Pro727=) | |
13 | g.108209101G>A | CA388613873 | LIG4 | c.1967C>T (p.Pro656Leu) c.2168C>T (p.Pro723Leu) c.2204C>T (p.Pro735Leu) c.2180C>T (p.Pro727Leu) | |
13 | g.108209101G>C | CA388613874 | LIG4 | c.1967C>G (p.Pro656Arg) c.2168C>G (p.Pro723Arg) c.2204C>G (p.Pro735Arg) c.2180C>G (p.Pro727Arg) | COSMIC |
13 | g.108209101G>T | CA388613875 | LIG4 | c.1967C>A (p.Pro656His) c.2168C>A (p.Pro723His) c.2204C>A (p.Pro735His) c.2180C>A (p.Pro727His) | |
13 | g.108209102G>A | CA388613876 | LIG4 | c.1966C>T (p.Pro656Ser) c.2167C>T (p.Pro723Ser) c.2203C>T (p.Pro735Ser) c.2179C>T (p.Pro727Ser) | |
13 | g.108209102G>C | CA388613877 | LIG4 | c.1966C>G (p.Pro656Ala) c.2167C>G (p.Pro723Ala) c.2203C>G (p.Pro735Ala) c.2179C>G (p.Pro727Ala) | gnomAD v4 |
13 | g.108209102G>T | CA388613878 | LIG4 | c.1966C>A (p.Pro656Thr) c.2167C>A (p.Pro723Thr) c.2203C>A (p.Pro735Thr) c.2179C>A (p.Pro727Thr) | |
13 | g.108209103C>A | CA388613879 | LIG4 | c.1965G>T (p.Lys655Asn) c.2166G>T (p.Lys722Asn) c.2202G>T (p.Lys734Asn) c.2178G>T (p.Lys726Asn) | |
13 | g.108209103C= | CA2117794047 | LIG4 | c.1965G= (p.Lys655=) c.2166G= (p.Lys722=) c.2202G= (p.Lys734=) c.2178G= (p.Lys726=) | |
13 | g.108209103C>G | CA388613880 | LIG4 | c.1965G>C (p.Lys655Asn) c.2166G>C (p.Lys722Asn) c.2202G>C (p.Lys734Asn) c.2178G>C (p.Lys726Asn) | |
13 | g.108209103C>T | CA484975227 | LIG4 | c.1965G>A (p.Lys655=) c.2166G>A (p.Lys722=) c.2202G>A (p.Lys734=) c.2178G>A (p.Lys726=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.108209104T>A | CA388613881 | LIG4 | c.1964A>T (p.Lys655Met) c.2165A>T (p.Lys722Met) c.2201A>T (p.Lys734Met) c.2177A>T (p.Lys726Met) | |
13 | g.108209104T>C | CA388613882 | LIG4 | c.1964A>G (p.Lys655Arg) c.2165A>G (p.Lys722Arg) c.2201A>G (p.Lys734Arg) c.2177A>G (p.Lys726Arg) | dbSNP |
13 | g.108209104T>G | CA388613883 | LIG4 | c.1964A>C (p.Lys655Thr) c.2165A>C (p.Lys722Thr) c.2201A>C (p.Lys734Thr) c.2177A>C (p.Lys726Thr) | |
13 | g.108209104T= | CA2117794048 | LIG4 | c.1964A= (p.Lys655=) c.2165A= (p.Lys722=) c.2201A= (p.Lys734=) c.2177A= (p.Lys726=) | |
13 | g.108209105T>A | CA388613884 | LIG4 | c.1963A>T (p.Lys655Ter) c.2164A>T (p.Lys722Ter) c.2200A>T (p.Lys734Ter) c.2176A>T (p.Lys726Ter) | |
13 | g.108209105T>C | CA388613886 | LIG4 | c.1963A>G (p.Lys655Glu) c.2164A>G (p.Lys722Glu) c.2200A>G (p.Lys734Glu) c.2176A>G (p.Lys726Glu) | |
13 | g.108209105T>G | CA388613885 | LIG4 | c.1963A>C (p.Lys655Gln) c.2164A>C (p.Lys722Gln) c.2200A>C (p.Lys734Gln) c.2176A>C (p.Lys726Gln) | |
13 | g.108209106G>A | CA484975228 | LIG4 | c.1962C>T (p.Val654=) c.2163C>T (p.Val721=) c.2199C>T (p.Val733=) c.2175C>T (p.Val725=) | |
13 | g.108209106G>C | CA484975229 | LIG4 | c.1962C>G (p.Val654=) c.2163C>G (p.Val721=) c.2199C>G (p.Val733=) c.2175C>G (p.Val725=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209106G= | CA2117794049 | LIG4 | c.1962C= (p.Val654=) c.2163C= (p.Val721=) c.2199C= (p.Val733=) c.2175C= (p.Val725=) | |
13 | g.108209106G>T | CA484975230 | LIG4 | c.1962C>A (p.Val654=) c.2163C>A (p.Val721=) c.2199C>A (p.Val733=) c.2175C>A (p.Val725=) | |
13 | g.108209107A>C | CA388613887 | LIG4 | c.1961T>G (p.Val654Gly) c.2162T>G (p.Val721Gly) c.2198T>G (p.Val733Gly) c.2174T>G (p.Val725Gly) | |
13 | g.108209107A>G | CA388613888 | LIG4 | c.1961T>C (p.Val654Ala) c.2162T>C (p.Val721Ala) c.2198T>C (p.Val733Ala) c.2174T>C (p.Val725Ala) | |
13 | g.108209107A>T | CA388613889 | LIG4 | c.1961T>A (p.Val654Asp) c.2162T>A (p.Val721Asp) c.2198T>A (p.Val733Asp) c.2174T>A (p.Val725Asp) | |
13 | g.108209110_108209112del | CA2623644099 | LIG4 | c.1959_1961del (p.Val654del) c.2160_2162del (p.Val721del) c.2196_2198del (p.Val733del) c.2172_2174del (p.Val725del) | gnomAD v4 |
13 | g.108209108C>A | CA388613890 | LIG4 | c.1960G>T (p.Val654Phe) c.2161G>T (p.Val721Phe) c.2197G>T (p.Val733Phe) c.2173G>T (p.Val725Phe) | |
13 | g.108209108C= | CA2117794050 | LIG4 | c.1960G= (p.Val654=) c.2161G= (p.Val721=) c.2197G= (p.Val733=) c.2173G= (p.Val725=) | |
13 | g.108209108C>G | CA7043552 | LIG4 | c.1960G>C (p.Val654Leu) c.2161G>C (p.Val721Leu) c.2197G>C (p.Val733Leu) c.2173G>C (p.Val725Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209108C>T | CA7043551 | LIG4 | c.1960G>A (p.Val654Ile) c.2161G>A (p.Val721Ile) c.2197G>A (p.Val733Ile) c.2173G>A (p.Val725Ile) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.108209109A>C | CA484975232 | LIG4 | c.1959T>G (p.Val653=) c.2160T>G (p.Val720=) c.2196T>G (p.Val732=) c.2172T>G (p.Val724=) | |
13 | g.108209109A>G | CA484975234 | LIG4 | c.1959T>C (p.Val653=) c.2160T>C (p.Val720=) c.2196T>C (p.Val732=) c.2172T>C (p.Val724=) | dbSNP |
13 | g.108209109A>T | CA484975236 | LIG4 | c.1959T>A (p.Val653=) c.2160T>A (p.Val720=) c.2196T>A (p.Val732=) c.2172T>A (p.Val724=) | |
13 | g.108209110A>C | CA388613891 | LIG4 | c.1958T>G (p.Val653Gly) c.2159T>G (p.Val720Gly) c.2195T>G (p.Val732Gly) c.2171T>G (p.Val724Gly) | |
13 | g.108209110A>G | CA388613892 | LIG4 | c.1958T>C (p.Val653Ala) c.2159T>C (p.Val720Ala) c.2195T>C (p.Val732Ala) c.2171T>C (p.Val724Ala) | |
13 | g.108209110A>T | CA388613893 | LIG4 | c.1958T>A (p.Val653Asp) c.2159T>A (p.Val720Asp) c.2195T>A (p.Val732Asp) c.2171T>A (p.Val724Asp) | gnomAD v4 |
13 | g.108209111C>A | CA388613894 | LIG4 | c.1957G>T (p.Val653Phe) c.2158G>T (p.Val720Phe) c.2194G>T (p.Val732Phe) c.2170G>T (p.Val724Phe) | |
13 | g.108209111C= | CA2117794051 | LIG4 | c.1957G= (p.Val653=) c.2158G= (p.Val720=) c.2194G= (p.Val732=) c.2170G= (p.Val724=) | |
13 | g.108209111C>G | CA388613895 | LIG4 | c.1957G>C (p.Val653Leu) c.2158G>C (p.Val720Leu) c.2194G>C (p.Val732Leu) c.2170G>C (p.Val724Leu) | |
13 | g.108209111C>T | CA388613896 | LIG4 | c.1957G>A (p.Val653Ile) c.2158G>A (p.Val720Ile) c.2194G>A (p.Val732Ile) c.2170G>A (p.Val724Ile) | dbSNP |
13 | g.108209114_108209116del | CA2623644100 | LIG4 | c.1955_1957del (p.Asp652del) c.2156_2158del (p.Asp719del) c.2192_2194del (p.Asp731del) c.2168_2170del (p.Asp723del) | gnomAD v4 |
13 | g.108209112A>C | CA388613898 | LIG4 | c.1956T>G (p.Asp652Glu) c.2157T>G (p.Asp719Glu) c.2193T>G (p.Asp731Glu) c.2169T>G (p.Asp723Glu) | |
13 | g.108209112A>G | CA484975242 | LIG4 | c.1956T>C (p.Asp652=) c.2157T>C (p.Asp719=) c.2193T>C (p.Asp731=) c.2169T>C (p.Asp723=) | ClinVar dbSNP gnomAD v4 |
13 | g.108209112A>T | CA388613897 | LIG4 | c.1956T>A (p.Asp652Glu) c.2157T>A (p.Asp719Glu) c.2193T>A (p.Asp731Glu) c.2169T>A (p.Asp723Glu) | |
13 | g.108209113T>A | CA388613899 | LIG4 | c.1955A>T (p.Asp652Val) c.2156A>T (p.Asp719Val) c.2192A>T (p.Asp731Val) c.2168A>T (p.Asp723Val) | |
13 | g.108209113T>C | CA388613900 | LIG4 | c.1955A>G (p.Asp652Gly) c.2156A>G (p.Asp719Gly) c.2192A>G (p.Asp731Gly) c.2168A>G (p.Asp723Gly) | gnomAD v4 |
13 | g.108209113T>G | CA388613901 | LIG4 | c.1955A>C (p.Asp652Ala) c.2156A>C (p.Asp719Ala) c.2192A>C (p.Asp731Ala) c.2168A>C (p.Asp723Ala) | |
13 | g.108209114C>A | CA388613902 | LIG4 | c.1954G>T (p.Asp652Tyr) c.2155G>T (p.Asp719Tyr) c.2191G>T (p.Asp731Tyr) c.2167G>T (p.Asp723Tyr) | |
13 | g.108209114C>G | CA388613903 | LIG4 | c.1954G>C (p.Asp652His) c.2155G>C (p.Asp719His) c.2191G>C (p.Asp731His) c.2167G>C (p.Asp723His) | |
13 | g.108209114C>T | CA388613904 | LIG4 | c.1954G>A (p.Asp652Asn) c.2155G>A (p.Asp719Asn) c.2191G>A (p.Asp731Asn) c.2167G>A (p.Asp723Asn) | |
13 | g.108209114_108209133delinsCATGTTTATTTGACAAAATT | CA2117794052 | LIG4 | c.1935_1954delinsAATTTTGTCAAATAAACATG (p.Ile645=) c.2136_2155delinsAATTTTGTCAAATAAACATG (p.Ile712=) c.2172_2191delinsAATTTTGTCAAATAAACATG (p.Ile724=) c.2148_2167delinsAATTTTGTCAAATAAACATG (p.Ile716=) |