Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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=) | |
13 | g.108209115A>C | CA388613905 | LIG4 | c.1953T>G (p.His651Gln) c.2154T>G (p.His718Gln) c.2190T>G (p.His730Gln) c.2166T>G (p.His722Gln) | |
13 | g.108209115A>G | CA484975249 | LIG4 | c.1953T>C (p.His651=) c.2154T>C (p.His718=) c.2190T>C (p.His730=) c.2166T>C (p.His722=) | |
13 | g.108209115A>T | CA388613906 | LIG4 | c.1953T>A (p.His651Gln) c.2154T>A (p.His718Gln) c.2190T>A (p.His730Gln) c.2166T>A (p.His722Gln) | |
13 | g.108209121_108209139del | CA7043553 | LIG4 | c.1935_1953del (p.Ile645MetfsTer10) c.2136_2154del (p.Ile712MetfsTer10) c.2172_2190del (p.Ile724MetfsTer10) c.2148_2166del (p.Ile716MetfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209116T>A | CA388613907 | LIG4 | c.1952A>T (p.His651Leu) c.2153A>T (p.His718Leu) c.2189A>T (p.His730Leu) c.2165A>T (p.His722Leu) | |
13 | g.108209116T>C | CA388613908 | LIG4 | c.1952A>G (p.His651Arg) c.2153A>G (p.His718Arg) c.2189A>G (p.His730Arg) c.2165A>G (p.His722Arg) | |
13 | g.108209116T>G | CA388613909 | LIG4 | c.1952A>C (p.His651Pro) c.2153A>C (p.His718Pro) c.2189A>C (p.His730Pro) c.2165A>C (p.His722Pro) | |
13 | g.108209117G>A | CA388613911 | LIG4 | c.1951C>T (p.His651Tyr) c.2152C>T (p.His718Tyr) c.2188C>T (p.His730Tyr) c.2164C>T (p.His722Tyr) | gnomAD v4 |
13 | g.108209117G>C | CA388613912 | LIG4 | c.1951C>G (p.His651Asp) c.2152C>G (p.His718Asp) c.2188C>G (p.His730Asp) c.2164C>G (p.His722Asp) | |
13 | g.108209117G>T | CA388613910 | LIG4 | c.1951C>A (p.His651Asn) c.2152C>A (p.His718Asn) c.2188C>A (p.His730Asn) c.2164C>A (p.His722Asn) | |
13 | g.108209117_108209121delinsGTTTA | CA2117794053 | LIG4 | c.1947_1951delinsTAAAC (p.Asn649=) c.2148_2152delinsTAAAC (p.Asn716=) c.2184_2188delinsTAAAC (p.Asn728=) c.2160_2164delinsTAAAC (p.Asn720=) | |
13 | g.108209118T>A | CA388613914 | LIG4 | c.1950A>T (p.Lys650Asn) c.2151A>T (p.Lys717Asn) c.2187A>T (p.Lys729Asn) c.2163A>T (p.Lys721Asn) | |
13 | g.108209118T>C | CA484975254 | LIG4 | c.1950A>G (p.Lys650=) c.2151A>G (p.Lys717=) c.2187A>G (p.Lys729=) c.2163A>G (p.Lys721=) | |
13 | g.108209118T>G | CA388613913 | LIG4 | c.1950A>C (p.Lys650Asn) c.2151A>C (p.Lys717Asn) c.2187A>C (p.Lys729Asn) c.2163A>C (p.Lys721Asn) | |
13 | g.108209121_108209124del | CA7043554 | LIG4 | c.1947_1950del (p.Lys650MetfsTer10) c.2148_2151del (p.Lys717MetfsTer10) c.2184_2187del (p.Lys729MetfsTer10) c.2160_2163del (p.Lys721MetfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209119T>A | CA388613915 | LIG4 | c.1949A>T (p.Lys650Ile) c.2150A>T (p.Lys717Ile) c.2186A>T (p.Lys729Ile) c.2162A>T (p.Lys721Ile) | |
13 | g.108209119T>C | CA388613916 | LIG4 | c.1949A>G (p.Lys650Arg) c.2150A>G (p.Lys717Arg) c.2186A>G (p.Lys729Arg) c.2162A>G (p.Lys721Arg) | |
13 | g.108209119T>G | CA388613917 | LIG4 | c.1949A>C (p.Lys650Thr) c.2150A>C (p.Lys717Thr) c.2186A>C (p.Lys729Thr) c.2162A>C (p.Lys721Thr) | gnomAD v4 |
13 | g.108209120T>A | CA388613918 | LIG4 | c.1948A>T (p.Lys650Ter) c.2149A>T (p.Lys717Ter) c.2185A>T (p.Lys729Ter) c.2161A>T (p.Lys721Ter) | |
13 | g.108209120T>C | CA388613919 | LIG4 | c.1948A>G (p.Lys650Glu) c.2149A>G (p.Lys717Glu) c.2185A>G (p.Lys729Glu) c.2161A>G (p.Lys721Glu) | |
13 | g.108209120T>G | CA388613920 | LIG4 | c.1948A>C (p.Lys650Gln) c.2149A>C (p.Lys717Gln) c.2185A>C (p.Lys729Gln) c.2161A>C (p.Lys721Gln) | |
13 | g.108209121A>C | CA388613921 | LIG4 | c.1947T>G (p.Asn649Lys) c.2148T>G (p.Asn716Lys) c.2184T>G (p.Asn728Lys) c.2160T>G (p.Asn720Lys) | |
13 | g.108209121A>G | CA484975262 | LIG4 | c.1947T>C (p.Asn649=) c.2148T>C (p.Asn716=) c.2184T>C (p.Asn728=) c.2160T>C (p.Asn720=) | |
13 | g.108209121A>T | CA388613922 | LIG4 | c.1947T>A (p.Asn649Lys) c.2148T>A (p.Asn716Lys) c.2184T>A (p.Asn728Lys) c.2160T>A (p.Asn720Lys) | |
13 | g.108209122T>A | CA388613923 | LIG4 | c.1946A>T (p.Asn649Ile) c.2147A>T (p.Asn716Ile) c.2183A>T (p.Asn728Ile) c.2159A>T (p.Asn720Ile) | |
13 | g.108209122T>C | CA388613924 | LIG4 | c.1946A>G (p.Asn649Ser) c.2147A>G (p.Asn716Ser) c.2183A>G (p.Asn728Ser) c.2159A>G (p.Asn720Ser) | |
13 | g.108209122T>G | CA388613925 | LIG4 | c.1946A>C (p.Asn649Thr) c.2147A>C (p.Asn716Thr) c.2183A>C (p.Asn728Thr) c.2159A>C (p.Asn720Thr) | |
13 | g.108209123T>A | CA388613927 | LIG4 | c.1945A>T (p.Asn649Tyr) c.2146A>T (p.Asn716Tyr) c.2182A>T (p.Asn728Tyr) c.2158A>T (p.Asn720Tyr) | |
13 | g.108209123T>C | CA7043555 | LIG4 | c.1945A>G (p.Asn649Asp) c.2146A>G (p.Asn716Asp) c.2182A>G (p.Asn728Asp) c.2158A>G (p.Asn720Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209123T>G | CA388613926 | LIG4 | c.1945A>C (p.Asn649His) c.2146A>C (p.Asn716His) c.2182A>C (p.Asn728His) c.2158A>C (p.Asn720His) | |
13 | g.108209123T= | CA2117794054 | LIG4 | c.1945A= (p.Asn649=) c.2146A= (p.Asn716=) c.2182A= (p.Asn728=) c.2158A= (p.Asn720=) | |
13 | g.108209124T>A | CA484975268 | LIG4 | c.1944A>T (p.Ser648=) c.2145A>T (p.Ser715=) c.2181A>T (p.Ser727=) c.2157A>T (p.Ser719=) | |
13 | g.108209124T>C | CA484975266 | LIG4 | c.1944A>G (p.Ser648=) c.2145A>G (p.Ser715=) c.2181A>G (p.Ser727=) c.2157A>G (p.Ser719=) | |
13 | g.108209124T>G | CA484975264 | LIG4 | c.1944A>C (p.Ser648=) c.2145A>C (p.Ser715=) c.2181A>C (p.Ser727=) c.2157A>C (p.Ser719=) | |
13 | g.108209125G>A | CA388613928 | LIG4 | c.1943C>T (p.Ser648Leu) c.2144C>T (p.Ser715Leu) c.2180C>T (p.Ser727Leu) c.2156C>T (p.Ser719Leu) | |
13 | g.108209125G>C | CA388613929 | LIG4 | c.1943C>G (p.Ser648Ter) c.2144C>G (p.Ser715Ter) c.2180C>G (p.Ser727Ter) c.2156C>G (p.Ser719Ter) | gnomAD v4 |
13 | g.108209125G>T | CA388613930 | LIG4 | c.1943C>A (p.Ser648Ter) c.2144C>A (p.Ser715Ter) c.2180C>A (p.Ser727Ter) c.2156C>A (p.Ser719Ter) | |
13 | g.108209126A= | CA2117794055 | LIG4 | c.1942T= (p.Ser648=) c.2143T= (p.Ser715=) c.2179T= (p.Ser727=) c.2155T= (p.Ser719=) | |
13 | g.108209126A>C | CA388613931 | LIG4 | c.1942T>G (p.Ser648Ala) c.2143T>G (p.Ser715Ala) c.2179T>G (p.Ser727Ala) c.2155T>G (p.Ser719Ala) | |
13 | g.108209126A>G | CA256180025 | LIG4 | c.1942T>C (p.Ser648Pro) c.2143T>C (p.Ser715Pro) c.2179T>C (p.Ser727Pro) c.2155T>C (p.Ser719Pro) | dbSNP gnomAD v4 |
13 | g.108209126A>T | CA388613932 | LIG4 | c.1942T>A (p.Ser648Thr) c.2143T>A (p.Ser715Thr) c.2179T>A (p.Ser727Thr) c.2155T>A (p.Ser719Thr) | ClinVar dbSNP |
13 | g.108209127C>A | CA388613933 | LIG4 | c.1941G>T (p.Leu647Phe) c.2142G>T (p.Leu714Phe) c.2178G>T (p.Leu726Phe) c.2154G>T (p.Leu718Phe) | gnomAD v4 |
13 | g.108209127C>G | CA388613934 | LIG4 | c.1941G>C (p.Leu647Phe) c.2142G>C (p.Leu714Phe) c.2178G>C (p.Leu726Phe) c.2154G>C (p.Leu718Phe) | |
13 | g.108209127C>T | CA484975272 | LIG4 | c.1941G>A (p.Leu647=) c.2142G>A (p.Leu714=) c.2178G>A (p.Leu726=) c.2154G>A (p.Leu718=) | |
13 | g.108209128A>C | CA388613935 | LIG4 | c.1940T>G (p.Leu647Trp) c.2141T>G (p.Leu714Trp) c.2177T>G (p.Leu726Trp) c.2153T>G (p.Leu718Trp) | |
13 | g.108209128A>G | CA388613936 | LIG4 | c.1940T>C (p.Leu647Ser) c.2141T>C (p.Leu714Ser) c.2177T>C (p.Leu726Ser) c.2153T>C (p.Leu718Ser) | dbSNP gnomAD v4 |
13 | g.108209128A>T | CA388613937 | LIG4 | c.1940T>A (p.Leu647Ter) c.2141T>A (p.Leu714Ter) c.2177T>A (p.Leu726Ter) c.2153T>A (p.Leu718Ter) | |
13 | g.108209129A>C | CA388613938 | LIG4 | c.1939T>G (p.Leu647Val) c.2140T>G (p.Leu714Val) c.2176T>G (p.Leu726Val) c.2152T>G (p.Leu718Val) | |
13 | g.108209129A>G | CA484975276 | LIG4 | c.1939T>C (p.Leu647=) c.2140T>C (p.Leu714=) c.2176T>C (p.Leu726=) c.2152T>C (p.Leu718=) | |
13 | g.108209129A>T | CA388613939 | LIG4 | c.1939T>A (p.Leu647Met) c.2140T>A (p.Leu714Met) c.2176T>A (p.Leu726Met) c.2152T>A (p.Leu718Met) | |
13 | g.108209130A= | CA2117794056 | LIG4 | c.1938T= (p.Ile646=) c.2139T= (p.Ile713=) c.2175T= (p.Ile725=) c.2151T= (p.Ile717=) | |
13 | g.108209130A>C | CA388613940 | LIG4 | c.1938T>G (p.Ile646Met) c.2139T>G (p.Ile713Met) c.2175T>G (p.Ile725Met) c.2151T>G (p.Ile717Met) | ClinVar dbSNP gnomAD v4 |
13 | g.108209130A>G | CA484975280 | LIG4 | c.1938T>C (p.Ile646=) c.2139T>C (p.Ile713=) c.2175T>C (p.Ile725=) c.2151T>C (p.Ile717=) | |
13 | g.108209130A>T | CA484975277 | LIG4 | c.1938T>A (p.Ile646=) c.2139T>A (p.Ile713=) c.2175T>A (p.Ile725=) c.2151T>A (p.Ile717=) | |
13 | g.108209131A>C | CA388613943 | LIG4 | c.1937T>G (p.Ile646Ser) c.2138T>G (p.Ile713Ser) c.2174T>G (p.Ile725Ser) c.2150T>G (p.Ile717Ser) | |
13 | g.108209131A>G | CA388613941 | LIG4 | c.1937T>C (p.Ile646Thr) c.2138T>C (p.Ile713Thr) c.2174T>C (p.Ile725Thr) c.2150T>C (p.Ile717Thr) | |
13 | g.108209131A>T | CA388613942 | LIG4 | c.1937T>A (p.Ile646Asn) c.2138T>A (p.Ile713Asn) c.2174T>A (p.Ile725Asn) c.2150T>A (p.Ile717Asn) | |
13 | g.108209132T>A | CA388613944 | LIG4 | c.1936A>T (p.Ile646Phe) c.2137A>T (p.Ile713Phe) c.2173A>T (p.Ile725Phe) c.2149A>T (p.Ile717Phe) | |
13 | g.108209132T>C | CA388613945 | LIG4 | c.1936A>G (p.Ile646Val) c.2137A>G (p.Ile713Val) c.2173A>G (p.Ile725Val) c.2149A>G (p.Ile717Val) | |
13 | g.108209132T>G | CA388613946 | LIG4 | c.1936A>C (p.Ile646Leu) c.2137A>C (p.Ile713Leu) c.2173A>C (p.Ile725Leu) c.2149A>C (p.Ile717Leu) | |
13 | g.108209132_108209134delinsTTA | CA2117794057 | LIG4 | c.1934_1936delinsTAA (p.Ile645=) c.2135_2137delinsTAA (p.Ile712=) c.2171_2173delinsTAA (p.Ile724=) c.2147_2149delinsTAA (p.Ile716=) | |
13 | g.108209133T>A | CA484975287 | LIG4 | c.1935A>T (p.Ile645=) c.2136A>T (p.Ile712=) c.2172A>T (p.Ile724=) c.2148A>T (p.Ile716=) | |
13 | g.108209133T>C | CA388613947 | LIG4 | c.1935A>G (p.Ile645Met) c.2136A>G (p.Ile712Met) c.2172A>G (p.Ile724Met) c.2148A>G (p.Ile716Met) | gnomAD v4 |
13 | g.108209133T>G | CA484975290 | LIG4 | c.1935A>C (p.Ile645=) c.2136A>C (p.Ile712=) c.2172A>C (p.Ile724=) c.2148A>C (p.Ile716=) | |
13 | g.108209134_108209135del | CA484975291 | LIG4 | c.1934_1935del (p.Ile645AsnfsTer5) c.2135_2136del (p.Ile712AsnfsTer5) c.2171_2172del (p.Ile724AsnfsTer5) c.2147_2148del (p.Ile716AsnfsTer5) | ClinVar dbSNP gnomAD v4 |
13 | g.108209134A>C | CA388613950 | LIG4 | c.1934T>G (p.Ile645Arg) c.2135T>G (p.Ile712Arg) c.2171T>G (p.Ile724Arg) c.2147T>G (p.Ile716Arg) | |
13 | g.108209134A>G | CA388613948 | LIG4 | c.1934T>C (p.Ile645Thr) c.2135T>C (p.Ile712Thr) c.2171T>C (p.Ile724Thr) c.2147T>C (p.Ile716Thr) | gnomAD v4 |
13 | g.108209134A>T | CA388613949 | LIG4 | c.1934T>A (p.Ile645Lys) c.2135T>A (p.Ile712Lys) c.2171T>A (p.Ile724Lys) c.2147T>A (p.Ile716Lys) | |
13 | g.108209135T>A | CA388613951 | LIG4 | c.1933A>T (p.Ile645Leu) c.2134A>T (p.Ile712Leu) c.2170A>T (p.Ile724Leu) c.2146A>T (p.Ile716Leu) | |
13 | g.108209135T>C | CA388613952 | LIG4 | c.1933A>G (p.Ile645Val) c.2134A>G (p.Ile712Val) c.2170A>G (p.Ile724Val) c.2146A>G (p.Ile716Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209135T>G | CA388613953 | LIG4 | c.1933A>C (p.Ile645Leu) c.2134A>C (p.Ile712Leu) c.2170A>C (p.Ile724Leu) c.2146A>C (p.Ile716Leu) | |
13 | g.108209135T= | CA2117794058 | LIG4 | c.1933A= (p.Ile645=) c.2134A= (p.Ile712=) c.2170A= (p.Ile724=) c.2146A= (p.Ile716=) | |
13 | g.108209136G>A | CA484975294 | LIG4 | c.1932C>T (p.Asn644=) c.2133C>T (p.Asn711=) c.2169C>T (p.Asn723=) c.2145C>T (p.Asn715=) | |
13 | g.108209136G>C | CA388613954 | LIG4 | c.1932C>G (p.Asn644Lys) c.2133C>G (p.Asn711Lys) c.2169C>G (p.Asn723Lys) c.2145C>G (p.Asn715Lys) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209136G= | CA2117794059 | LIG4 | c.1932C= (p.Asn644=) c.2133C= (p.Asn711=) c.2169C= (p.Asn723=) c.2145C= (p.Asn715=) | |
13 | g.108209136G>T | CA388613955 | LIG4 | c.1932C>A (p.Asn644Lys) c.2133C>A (p.Asn711Lys) c.2169C>A (p.Asn723Lys) c.2145C>A (p.Asn715Lys) | |
13 | g.108209137T>A | CA388613956 | LIG4 | c.1931A>T (p.Asn644Ile) c.2132A>T (p.Asn711Ile) c.2168A>T (p.Asn723Ile) c.2144A>T (p.Asn715Ile) | |
13 | g.108209137T>C | CA388613958 | LIG4 | c.1931A>G (p.Asn644Ser) c.2132A>G (p.Asn711Ser) c.2168A>G (p.Asn723Ser) c.2144A>G (p.Asn715Ser) | gnomAD v4 |
13 | g.108209137T>G | CA388613957 | LIG4 | c.1931A>C (p.Asn644Thr) c.2132A>C (p.Asn711Thr) c.2168A>C (p.Asn723Thr) c.2144A>C (p.Asn715Thr) | |
13 | g.108209141dup | CA2575452313 | LIG4 | c.1931dup (p.Asn644LysfsTer7) c.2132dup (p.Asn711LysfsTer7) c.2168dup (p.Asn723LysfsTer7) c.2144dup (p.Asn715LysfsTer7) | |
13 | g.108209138T>A | CA388613959 | LIG4 | c.1930A>T (p.Asn644Tyr) c.2131A>T (p.Asn711Tyr) c.2167A>T (p.Asn723Tyr) c.2143A>T (p.Asn715Tyr) | |
13 | g.108209138T>C | CA388613960 | LIG4 | c.1930A>G (p.Asn644Asp) c.2131A>G (p.Asn711Asp) c.2167A>G (p.Asn723Asp) c.2143A>G (p.Asn715Asp) | |
13 | g.108209138T>G | CA388613961 | LIG4 | c.1930A>C (p.Asn644His) c.2131A>C (p.Asn711His) c.2167A>C (p.Asn723His) c.2143A>C (p.Asn715His) | |
13 | g.108209139T>A | CA388613962 | LIG4 | c.1929A>T (p.Lys643Asn) c.2130A>T (p.Lys710Asn) c.2166A>T (p.Lys722Asn) c.2142A>T (p.Lys714Asn) | |
13 | g.108209139T>C | CA484975299 | LIG4 | c.1929A>G (p.Lys643=) c.2130A>G (p.Lys710=) c.2166A>G (p.Lys722=) c.2142A>G (p.Lys714=) | |
13 | g.108209139T>G | CA388613963 | LIG4 | c.1929A>C (p.Lys643Asn) c.2130A>C (p.Lys710Asn) c.2166A>C (p.Lys722Asn) c.2142A>C (p.Lys714Asn) | |
13 | g.108209140T>A | CA388613964 | LIG4 | c.1928A>T (p.Lys643Ile) c.2129A>T (p.Lys710Ile) c.2165A>T (p.Lys722Ile) c.2141A>T (p.Lys714Ile) | |
13 | g.108209140T>C | CA388613965 | LIG4 | c.1928A>G (p.Lys643Arg) c.2129A>G (p.Lys710Arg) c.2165A>G (p.Lys722Arg) c.2141A>G (p.Lys714Arg) | |
13 | g.108209140T>G | CA388613966 | LIG4 | c.1928A>C (p.Lys643Thr) c.2129A>C (p.Lys710Thr) c.2165A>C (p.Lys722Thr) c.2141A>C (p.Lys714Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209140T= | CA2117794060 | LIG4 | c.1928A= (p.Lys643=) c.2129A= (p.Lys710=) c.2165A= (p.Lys722=) c.2141A= (p.Lys714=) | |
13 | g.108209141T>A | CA388613967 | LIG4 | c.1927A>T (p.Lys643Ter) c.2128A>T (p.Lys710Ter) c.2164A>T (p.Lys722Ter) c.2140A>T (p.Lys714Ter) | |
13 | g.108209141T>C | CA388613968 | LIG4 | c.1927A>G (p.Lys643Glu) c.2128A>G (p.Lys710Glu) c.2164A>G (p.Lys722Glu) c.2140A>G (p.Lys714Glu) | |
13 | g.108209141T>G | CA388613969 | LIG4 | c.1927A>C (p.Lys643Gln) c.2128A>C (p.Lys710Gln) c.2164A>C (p.Lys722Gln) c.2140A>C (p.Lys714Gln) | |
13 | g.108209142C>A | CA484975302 | LIG4 | c.1926G>T (p.Val642=) c.2127G>T (p.Val709=) c.2163G>T (p.Val721=) c.2139G>T (p.Val713=) | |
13 | g.108209142C= | CA2117794061 | LIG4 | c.1926G= (p.Val642=) c.2127G= (p.Val709=) c.2163G= (p.Val721=) c.2139G= (p.Val713=) | |
13 | g.108209142C>G | CA484975304 | LIG4 | c.1926G>C (p.Val642=) c.2127G>C (p.Val709=) c.2163G>C (p.Val721=) c.2139G>C (p.Val713=) | |
13 | g.108209142C>T | CA484975306 | LIG4 | c.1926G>A (p.Val642=) c.2127G>A (p.Val709=) c.2163G>A (p.Val721=) c.2139G>A (p.Val713=) | dbSNP |
13 | g.108209143A>C | CA388613972 | LIG4 | c.1925T>G (p.Val642Gly) c.2126T>G (p.Val709Gly) c.2162T>G (p.Val721Gly) c.2138T>G (p.Val713Gly) | |
13 | g.108209143A>G | CA388613971 | LIG4 | c.1925T>C (p.Val642Ala) c.2126T>C (p.Val709Ala) c.2162T>C (p.Val721Ala) c.2138T>C (p.Val713Ala) | |
13 | g.108209143A>T | CA388613970 | LIG4 | c.1925T>A (p.Val642Glu) c.2126T>A (p.Val709Glu) c.2162T>A (p.Val721Glu) c.2138T>A (p.Val713Glu) | |
13 | g.108209144C>A | CA388613973 | LIG4 | c.1924G>T (p.Val642Leu) c.2125G>T (p.Val709Leu) c.2161G>T (p.Val721Leu) c.2137G>T (p.Val713Leu) | |
13 | g.108209144C= | CA2117794062 | LIG4 | c.1924G= (p.Val642=) c.2125G= (p.Val709=) c.2161G= (p.Val721=) c.2137G= (p.Val713=) | |
13 | g.108209144C>G | CA388613974 | LIG4 | c.1924G>C (p.Val642Leu) c.2125G>C (p.Val709Leu) c.2161G>C (p.Val721Leu) c.2137G>C (p.Val713Leu) | |
13 | g.108209144C>T | CA388613975 | LIG4 | c.1924G>A (p.Val642Met) c.2125G>A (p.Val709Met) c.2161G>A (p.Val721Met) c.2137G>A (p.Val713Met) | dbSNP |
13 | g.108209145T>A | CA388613976 | LIG4 | c.1923A>T (p.Arg641Ser) c.2124A>T (p.Arg708Ser) c.2160A>T (p.Arg720Ser) c.2136A>T (p.Arg712Ser) | |
13 | g.108209145T>C | CA484975311 | LIG4 | c.1923A>G (p.Arg641=) c.2124A>G (p.Arg708=) c.2160A>G (p.Arg720=) c.2136A>G (p.Arg712=) | |
13 | g.108209145T>G | CA388613977 | LIG4 | c.1923A>C (p.Arg641Ser) c.2124A>C (p.Arg708Ser) c.2160A>C (p.Arg720Ser) c.2136A>C (p.Arg712Ser) | |
13 | g.108209146C>A | CA388613978 | LIG4 | c.1922G>T (p.Arg641Ile) c.2123G>T (p.Arg708Ile) c.2159G>T (p.Arg720Ile) c.2135G>T (p.Arg712Ile) | |
13 | g.108209146C= | CA2117794063 | LIG4 | c.1922G= (p.Arg641=) c.2123G= (p.Arg708=) c.2159G= (p.Arg720=) c.2135G= (p.Arg712=) | |
13 | g.108209146C>G | CA388613979 | LIG4 | c.1922G>C (p.Arg641Thr) c.2123G>C (p.Arg708Thr) c.2159G>C (p.Arg720Thr) c.2135G>C (p.Arg712Thr) | |
13 | g.108209146C>T | CA388613980 | LIG4 | c.1922G>A (p.Arg641Lys) c.2123G>A (p.Arg708Lys) c.2159G>A (p.Arg720Lys) c.2135G>A (p.Arg712Lys) | |
13 | g.108209147T>A | CA388613982 | LIG4 | c.1921A>T (p.Arg641Ter) c.2122A>T (p.Arg708Ter) c.2158A>T (p.Arg720Ter) c.2134A>T (p.Arg712Ter) | |
13 | g.108209147T>C | CA388613981 | LIG4 | c.1921A>G (p.Arg641Gly) c.2122A>G (p.Arg708Gly) c.2158A>G (p.Arg720Gly) c.2134A>G (p.Arg712Gly) | |
13 | g.108209147T>G | CA484975317 | LIG4 | c.1921A>C (p.Arg641=) c.2122A>C (p.Arg708=) c.2158A>C (p.Arg720=) c.2134A>C (p.Arg712=) | |
13 | g.108209147dup | CA7043556 | LIG4 | c.1921dup (p.Arg641LysfsTer10) c.2122dup (p.Arg708LysfsTer10) c.2158dup (p.Arg720LysfsTer10) c.2134dup (p.Arg712LysfsTer10) | dbSNP ExAC gnomAD v2 |
13 | g.108209148G>A | CA484975319 | LIG4 | c.1920C>T (p.Ile640=) c.2121C>T (p.Ile707=) c.2157C>T (p.Ile719=) c.2133C>T (p.Ile711=) | |
13 | g.108209148G>C | CA388613983 | LIG4 | c.1920C>G (p.Ile640Met) c.2121C>G (p.Ile707Met) c.2157C>G (p.Ile719Met) c.2133C>G (p.Ile711Met) | |
13 | g.108209148G>T | CA484975320 | LIG4 | c.1920C>A (p.Ile640=) c.2121C>A (p.Ile707=) c.2157C>A (p.Ile719=) c.2133C>A (p.Ile711=) | |
13 | g.108209149A>C | CA388613984 | LIG4 | c.1919T>G (p.Ile640Ser) c.2120T>G (p.Ile707Ser) c.2156T>G (p.Ile719Ser) c.2132T>G (p.Ile711Ser) | |
13 | g.108209149A>G | CA388613985 | LIG4 | c.1919T>C (p.Ile640Thr) c.2120T>C (p.Ile707Thr) c.2156T>C (p.Ile719Thr) c.2132T>C (p.Ile711Thr) | |
13 | g.108209149A>T | CA388613986 | LIG4 | c.1919T>A (p.Ile640Asn) c.2120T>A (p.Ile707Asn) c.2156T>A (p.Ile719Asn) c.2132T>A (p.Ile711Asn) | |
13 | g.108209150T>A | CA7043557 | LIG4 | c.1918A>T (p.Ile640Phe) c.2119A>T (p.Ile707Phe) c.2155A>T (p.Ile719Phe) c.2131A>T (p.Ile711Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209150T>C | CA388613987 | LIG4 | c.1918A>G (p.Ile640Val) c.2119A>G (p.Ile707Val) c.2155A>G (p.Ile719Val) c.2131A>G (p.Ile711Val) | gnomAD v4 |
13 | g.108209150T>G | CA388613988 | LIG4 | c.1918A>C (p.Ile640Leu) c.2119A>C (p.Ile707Leu) c.2155A>C (p.Ile719Leu) c.2131A>C (p.Ile711Leu) | |
13 | g.108209150T= | CA2117794064 | LIG4 | c.1918A= (p.Ile640=) c.2119A= (p.Ile707=) c.2155A= (p.Ile719=) c.2131A= (p.Ile711=) | |
13 | g.108209151G>A | CA484975328 | LIG4 | c.1917C>T (p.Asn639=) c.2118C>T (p.Asn706=) c.2154C>T (p.Asn718=) c.2130C>T (p.Asn710=) | ClinVar |
13 | g.108209151G>C | CA388613989 | LIG4 | c.1917C>G (p.Asn639Lys) c.2118C>G (p.Asn706Lys) c.2154C>G (p.Asn718Lys) c.2130C>G (p.Asn710Lys) | |
13 | g.108209151G>T | CA388613990 | LIG4 | c.1917C>A (p.Asn639Lys) c.2118C>A (p.Asn706Lys) c.2154C>A (p.Asn718Lys) c.2130C>A (p.Asn710Lys) | |
13 | g.108209152T>A | CA388613991 | LIG4 | c.1916A>T (p.Asn639Ile) c.2117A>T (p.Asn706Ile) c.2153A>T (p.Asn718Ile) c.2129A>T (p.Asn710Ile) | |
13 | g.108209152T>C | CA388613992 | LIG4 | c.1916A>G (p.Asn639Ser) c.2117A>G (p.Asn706Ser) c.2153A>G (p.Asn718Ser) c.2129A>G (p.Asn710Ser) | |
13 | g.108209152T>G | CA388613993 | LIG4 | c.1916A>C (p.Asn639Thr) c.2117A>C (p.Asn706Thr) c.2153A>C (p.Asn718Thr) c.2129A>C (p.Asn710Thr) | |
13 | g.108209153T>A | CA388613994 | LIG4 | c.1915A>T (p.Asn639Tyr) c.2116A>T (p.Asn706Tyr) c.2152A>T (p.Asn718Tyr) c.2128A>T (p.Asn710Tyr) | |
13 | g.108209153T>C | CA388613995 | LIG4 | c.1915A>G (p.Asn639Asp) c.2116A>G (p.Asn706Asp) c.2152A>G (p.Asn718Asp) c.2128A>G (p.Asn710Asp) | |
13 | g.108209153T>G | CA388613996 | LIG4 | c.1915A>C (p.Asn639His) c.2116A>C (p.Asn706His) c.2152A>C (p.Asn718His) c.2128A>C (p.Asn710His) | |
13 | g.108209154C>A | CA388613997 | LIG4 | c.1914G>T (p.Glu638Asp) c.2115G>T (p.Glu705Asp) c.2151G>T (p.Glu717Asp) c.2127G>T (p.Glu709Asp) | |
13 | g.108209154C>G | CA388613998 | LIG4 | c.1914G>C (p.Glu638Asp) c.2115G>C (p.Glu705Asp) c.2151G>C (p.Glu717Asp) c.2127G>C (p.Glu709Asp) | |
13 | g.108209154C>T | CA484975333 | LIG4 | c.1914G>A (p.Glu638=) c.2115G>A (p.Glu705=) c.2151G>A (p.Glu717=) c.2127G>A (p.Glu709=) | |
13 | g.108209155T>A | CA388613999 | LIG4 | c.1913A>T (p.Glu638Val) c.2114A>T (p.Glu705Val) c.2150A>T (p.Glu717Val) c.2126A>T (p.Glu709Val) | |
13 | g.108209155T>C | CA388614000 | LIG4 | c.1913A>G (p.Glu638Gly) c.2114A>G (p.Glu705Gly) c.2150A>G (p.Glu717Gly) c.2126A>G (p.Glu709Gly) | |
13 | g.108209155T>G | CA388614001 | LIG4 | c.1913A>C (p.Glu638Ala) c.2114A>C (p.Glu705Ala) c.2150A>C (p.Glu717Ala) c.2126A>C (p.Glu709Ala) | |
13 | g.108209156C>A | CA388614002 | LIG4 | c.1912G>T (p.Glu638Ter) c.2113G>T (p.Glu705Ter) c.2149G>T (p.Glu717Ter) c.2125G>T (p.Glu709Ter) | |
13 | g.108209156C= | CA2117794065 | LIG4 | c.1912G= (p.Glu638=) c.2113G= (p.Glu705=) c.2149G= (p.Glu717=) c.2125G= (p.Glu709=) | |
13 | g.108209156C>G | CA388614004 | LIG4 | c.1912G>C (p.Glu638Gln) c.2113G>C (p.Glu705Gln) c.2149G>C (p.Glu717Gln) c.2125G>C (p.Glu709Gln) | |
13 | g.108209156C>T | CA388614003 | LIG4 | c.1912G>A (p.Glu638Lys) c.2113G>A (p.Glu705Lys) c.2149G>A (p.Glu717Lys) c.2125G>A (p.Glu709Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209157A>C | CA484975335 | LIG4 | c.1911T>G (p.Ser637=) c.2112T>G (p.Ser704=) c.2148T>G (p.Ser716=) c.2124T>G (p.Ser708=) | |
13 | g.108209157A>G | CA484975337 | LIG4 | c.1911T>C (p.Ser637=) c.2112T>C (p.Ser704=) c.2148T>C (p.Ser716=) c.2124T>C (p.Ser708=) | gnomAD v4 |
13 | g.108209157A>T | CA484975338 | LIG4 | c.1911T>A (p.Ser637=) c.2112T>A (p.Ser704=) c.2148T>A (p.Ser716=) c.2124T>A (p.Ser708=) | |
13 | g.108209158G>A | CA388614005 | LIG4 | c.1910C>T (p.Ser637Phe) c.2111C>T (p.Ser704Phe) c.2147C>T (p.Ser716Phe) c.2123C>T (p.Ser708Phe) | |
13 | g.108209158G>C | CA388614006 | LIG4 | c.1910C>G (p.Ser637Cys) c.2111C>G (p.Ser704Cys) c.2147C>G (p.Ser716Cys) c.2123C>G (p.Ser708Cys) | |
13 | g.108209158G>T | CA388614007 | LIG4 | c.1910C>A (p.Ser637Tyr) c.2111C>A (p.Ser704Tyr) c.2147C>A (p.Ser716Tyr) c.2123C>A (p.Ser708Tyr) | |
13 | g.108209159A= | CA2117794066 | LIG4 | c.1909T= (p.Ser637=) c.2110T= (p.Ser704=) c.2146T= (p.Ser716=) c.2122T= (p.Ser708=) | |
13 | g.108209159A>C | CA388614008 | LIG4 | c.1909T>G (p.Ser637Ala) c.2110T>G (p.Ser704Ala) c.2146T>G (p.Ser716Ala) c.2122T>G (p.Ser708Ala) | |
13 | g.108209159A>G | CA7043558 | LIG4 | c.1909T>C (p.Ser637Pro) c.2110T>C (p.Ser704Pro) c.2146T>C (p.Ser716Pro) c.2122T>C (p.Ser708Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209159A>T | CA388614009 | LIG4 | c.1909T>A (p.Ser637Thr) c.2110T>A (p.Ser704Thr) c.2146T>A (p.Ser716Thr) c.2122T>A (p.Ser708Thr) | |
13 | g.108209160C>A | CA484975344 | LIG4 | c.1908G>T (p.Gly636=) c.2109G>T (p.Gly703=) c.2145G>T (p.Gly715=) c.2121G>T (p.Gly707=) | |
13 | g.108209160C>G | CA484975348 | LIG4 | c.1908G>C (p.Gly636=) c.2109G>C (p.Gly703=) c.2145G>C (p.Gly715=) c.2121G>C (p.Gly707=) | |
13 | g.108209160C>T | CA484975349 | LIG4 | c.1908G>A (p.Gly636=) c.2109G>A (p.Gly703=) c.2145G>A (p.Gly715=) c.2121G>A (p.Gly707=) | |
13 | g.108209161C>A | CA388614010 | LIG4 | c.1907G>T (p.Gly636Val) c.2108G>T (p.Gly703Val) c.2144G>T (p.Gly715Val) c.2120G>T (p.Gly707Val) | |
13 | g.108209161C>G | CA388614011 | LIG4 | c.1907G>C (p.Gly636Ala) c.2108G>C (p.Gly703Ala) c.2144G>C (p.Gly715Ala) c.2120G>C (p.Gly707Ala) | |
13 | g.108209161C>T | CA388614012 | LIG4 | c.1907G>A (p.Gly636Glu) c.2108G>A (p.Gly703Glu) c.2144G>A (p.Gly715Glu) c.2120G>A (p.Gly707Glu) | |
13 | g.108209162C>A | CA388614013 | LIG4 | c.1906G>T (p.Gly636Trp) c.2107G>T (p.Gly703Trp) c.2143G>T (p.Gly715Trp) c.2119G>T (p.Gly707Trp) | |
13 | g.108209162C>G | CA388614014 | LIG4 | c.1906G>C (p.Gly636Arg) c.2107G>C (p.Gly703Arg) c.2143G>C (p.Gly715Arg) c.2119G>C (p.Gly707Arg) | gnomAD v4 |
13 | g.108209162C>T | CA388614015 | LIG4 | c.1906G>A (p.Gly636Arg) c.2107G>A (p.Gly703Arg) c.2143G>A (p.Gly715Arg) c.2119G>A (p.Gly707Arg) | |
13 | g.108209163T>A | CA484975351 | LIG4 | c.1905A>T (p.Ala635=) c.2106A>T (p.Ala702=) c.2142A>T (p.Ala714=) c.2118A>T (p.Ala706=) | |
13 | g.108209163T>C | CA484975353 | LIG4 | c.1905A>G (p.Ala635=) c.2106A>G (p.Ala702=) c.2142A>G (p.Ala714=) c.2118A>G (p.Ala706=) | |
13 | g.108209163T>G | CA484975352 | LIG4 | c.1905A>C (p.Ala635=) c.2106A>C (p.Ala702=) c.2142A>C (p.Ala714=) c.2118A>C (p.Ala706=) | |
13 | g.108209164G>A | CA388614017 | LIG4 | c.1904C>T (p.Ala635Val) c.2105C>T (p.Ala702Val) c.2141C>T (p.Ala714Val) c.2117C>T (p.Ala706Val) | gnomAD v4 |
13 | g.108209164G>C | CA388614018 | LIG4 | c.1904C>G (p.Ala635Gly) c.2105C>G (p.Ala702Gly) c.2141C>G (p.Ala714Gly) c.2117C>G (p.Ala706Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209164G= | CA2117794067 | LIG4 | c.1904C= (p.Ala635=) c.2105C= (p.Ala702=) c.2141C= (p.Ala714=) c.2117C= (p.Ala706=) | |
13 | g.108209164G>T | CA388614016 | LIG4 | c.1904C>A (p.Ala635Glu) c.2105C>A (p.Ala702Glu) c.2141C>A (p.Ala714Glu) c.2117C>A (p.Ala706Glu) | |
13 | g.108209165C>A | CA388614019 | LIG4 | c.1903G>T (p.Ala635Ser) c.2104G>T (p.Ala702Ser) c.2140G>T (p.Ala714Ser) c.2116G>T (p.Ala706Ser) | |
13 | g.108209165C>G | CA388614021 | LIG4 | c.1903G>C (p.Ala635Pro) c.2104G>C (p.Ala702Pro) c.2140G>C (p.Ala714Pro) c.2116G>C (p.Ala706Pro) | |
13 | g.108209165C>T | CA388614022 | LIG4 | c.1903G>A (p.Ala635Thr) c.2104G>A (p.Ala702Thr) c.2140G>A (p.Ala714Thr) c.2116G>A (p.Ala706Thr) | |
13 | g.108209166A= | CA2117794068 | LIG4 | c.1902T= (p.Ile634=) c.2103T= (p.Ile701=) c.2139T= (p.Ile713=) c.2115T= (p.Ile705=) | |
13 | g.108209166A>C | CA388614024 | LIG4 | c.1902T>G (p.Ile634Met) c.2103T>G (p.Ile701Met) c.2139T>G (p.Ile713Met) c.2115T>G (p.Ile705Met) | |
13 | g.108209166A>G | CA484975361 | LIG4 | c.1902T>C (p.Ile634=) c.2103T>C (p.Ile701=) c.2139T>C (p.Ile713=) c.2115T>C (p.Ile705=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209166A>T | CA484975362 | LIG4 | c.1902T>A (p.Ile634=) c.2103T>A (p.Ile701=) c.2139T>A (p.Ile713=) c.2115T>A (p.Ile705=) | |
13 | g.108209167A= | CA2117794069 | LIG4 | c.1901T= (p.Ile634=) c.2102T= (p.Ile701=) c.2138T= (p.Ile713=) c.2114T= (p.Ile705=) | |
13 | g.108209167A>C | CA388614030 | LIG4 | c.1901T>G (p.Ile634Ser) c.2102T>G (p.Ile701Ser) c.2138T>G (p.Ile713Ser) c.2114T>G (p.Ile705Ser) | |
13 | g.108209167A>G | CA388614028 | LIG4 | c.1901T>C (p.Ile634Thr) c.2102T>C (p.Ile701Thr) c.2138T>C (p.Ile713Thr) c.2114T>C (p.Ile705Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209167A>T | CA388614026 | LIG4 | c.1901T>A (p.Ile634Asn) c.2102T>A (p.Ile701Asn) c.2138T>A (p.Ile713Asn) c.2114T>A (p.Ile705Asn) | |
13 | g.108209168T>A | CA388614032 | LIG4 | c.1900A>T (p.Ile634Phe) c.2101A>T (p.Ile701Phe) c.2137A>T (p.Ile713Phe) c.2113A>T (p.Ile705Phe) | |
13 | g.108209168T>C | CA388614034 | LIG4 | c.1900A>G (p.Ile634Val) c.2101A>G (p.Ile701Val) c.2137A>G (p.Ile713Val) c.2113A>G (p.Ile705Val) | gnomAD v4 |
13 | g.108209168T>G | CA388614036 | LIG4 | c.1900A>C (p.Ile634Leu) c.2101A>C (p.Ile701Leu) c.2137A>C (p.Ile713Leu) c.2113A>C (p.Ile705Leu) | dbSNP |
13 | g.108209168T= | CA2117794070 | LIG4 | c.1900A= (p.Ile634=) c.2101A= (p.Ile701=) c.2137A= (p.Ile713=) c.2113A= (p.Ile705=) | |
13 | g.108209168_108209175delinsTTACACAG | CA2117794071 | LIG4 | c.1893_1900delinsCTGTGTAA (p.Tyr631=) c.2094_2101delinsCTGTGTAA (p.Tyr698=) c.2130_2137delinsCTGTGTAA (p.Tyr710=) c.2106_2113delinsCTGTGTAA (p.Tyr702=) | |
13 | g.108209169T>A | CA484975363 | LIG4 | c.1899A>T (p.Val633=) c.2100A>T (p.Val700=) c.2136A>T (p.Val712=) c.2112A>T (p.Val704=) | |
13 | g.108209169T>C | CA484975366 | LIG4 | c.1899A>G (p.Val633=) c.2100A>G (p.Val700=) c.2136A>G (p.Val712=) c.2112A>G (p.Val704=) | |
13 | g.108209169T>G | CA484975368 | LIG4 | c.1899A>C (p.Val633=) c.2100A>C (p.Val700=) c.2136A>C (p.Val712=) c.2112A>C (p.Val704=) | |
13 | g.108209172_108209178del | CA694834317 | LIG4 | c.1893_1899del (p.Tyr631Ter) c.2094_2100del (p.Tyr698Ter) c.2130_2136del (p.Tyr710Ter) c.2106_2112del (p.Tyr702Ter) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209170A>C | CA388614038 | LIG4 | c.1898T>G (p.Val633Gly) c.2099T>G (p.Val700Gly) c.2135T>G (p.Val712Gly) c.2111T>G (p.Val704Gly) | |
13 | g.108209170A>G | CA388614040 | LIG4 | c.1898T>C (p.Val633Ala) c.2099T>C (p.Val700Ala) c.2135T>C (p.Val712Ala) c.2111T>C (p.Val704Ala) | |
13 | g.108209170A>T | CA388614042 | LIG4 | c.1898T>A (p.Val633Glu) c.2099T>A (p.Val700Glu) c.2135T>A (p.Val712Glu) c.2111T>A (p.Val704Glu) | |
13 | g.108209170dup | CA2623644101 | LIG4 | c.1898dup (p.Ile634AsnfsTer5) c.2099dup (p.Ile701AsnfsTer5) c.2135dup (p.Ile713AsnfsTer5) c.2111dup (p.Ile705AsnfsTer5) | gnomAD v4 |
13 | g.108209171C>A | CA388614045 | LIG4 | c.1897G>T (p.Val633Leu) c.2098G>T (p.Val700Leu) c.2134G>T (p.Val712Leu) c.2110G>T (p.Val704Leu) | |
13 | g.108209171C= | CA2117794072 | LIG4 | c.1897G= (p.Val633=) c.2098G= (p.Val700=) c.2134G= (p.Val712=) c.2110G= (p.Val704=) | |
13 | g.108209171C>G | CA388614048 | LIG4 | c.1897G>C (p.Val633Leu) c.2098G>C (p.Val700Leu) c.2134G>C (p.Val712Leu) c.2110G>C (p.Val704Leu) | |
13 | g.108209171C>T | CA388614047 | LIG4 | c.1897G>A (p.Val633Ile) c.2098G>A (p.Val700Ile) c.2134G>A (p.Val712Ile) c.2110G>A (p.Val704Ile) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209172A>C | CA388614050 | LIG4 | c.1896T>G (p.Cys632Trp) c.2097T>G (p.Cys699Trp) c.2133T>G (p.Cys711Trp) c.2109T>G (p.Cys703Trp) | |
13 | g.108209172A>G | CA484975373 | LIG4 | c.1896T>C (p.Cys632=) c.2097T>C (p.Cys699=) c.2133T>C (p.Cys711=) c.2109T>C (p.Cys703=) | |
13 | g.108209172A>T | CA388614052 | LIG4 | c.1896T>A (p.Cys632Ter) c.2097T>A (p.Cys699Ter) c.2133T>A (p.Cys711Ter) c.2109T>A (p.Cys703Ter) | |
13 | g.108209173C>A | CA256180034 | LIG4 | c.1895G>T (p.Cys632Phe) c.2096G>T (p.Cys699Phe) c.2132G>T (p.Cys711Phe) c.2108G>T (p.Cys703Phe) | dbSNP |
13 | g.108209173C= | CA2117794073 | LIG4 | c.1895G= (p.Cys632=) c.2096G= (p.Cys699=) c.2132G= (p.Cys711=) c.2108G= (p.Cys703=) | |
13 | g.108209173C>G | CA388614054 | LIG4 | c.1895G>C (p.Cys632Ser) c.2096G>C (p.Cys699Ser) c.2132G>C (p.Cys711Ser) c.2108G>C (p.Cys703Ser) | |
13 | g.108209173C>T | CA388614055 | LIG4 | c.1895G>A (p.Cys632Tyr) c.2096G>A (p.Cys699Tyr) c.2132G>A (p.Cys711Tyr) c.2108G>A (p.Cys703Tyr) | |
13 | g.108209174A= | CA2117794074 | LIG4 | c.1894T= (p.Cys632=) c.2095T= (p.Cys699=) c.2131T= (p.Cys711=) c.2107T= (p.Cys703=) | |
13 | g.108209174A>C | CA388614056 | LIG4 | c.1894T>G (p.Cys632Gly) c.2095T>G (p.Cys699Gly) c.2131T>G (p.Cys711Gly) c.2107T>G (p.Cys703Gly) | |
13 | g.108209174A>G | CA388614058 | LIG4 | c.1894T>C (p.Cys632Arg) c.2095T>C (p.Cys699Arg) c.2131T>C (p.Cys711Arg) c.2107T>C (p.Cys703Arg) | dbSNP |
13 | g.108209174A>T | CA388614059 | LIG4 | c.1894T>A (p.Cys632Ser) c.2095T>A (p.Cys699Ser) c.2131T>A (p.Cys711Ser) c.2107T>A (p.Cys703Ser) | |
13 | g.108209175G>A | CA484975382 | LIG4 | c.1893C>T (p.Tyr631=) c.2094C>T (p.Tyr698=) c.2130C>T (p.Tyr710=) c.2106C>T (p.Tyr702=) | |
13 | g.108209175G>C | CA7043559 | LIG4 | c.1893C>G (p.Tyr631Ter) c.2094C>G (p.Tyr698Ter) c.2130C>G (p.Tyr710Ter) c.2106C>G (p.Tyr702Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209175G= | CA2117794075 | LIG4 | c.1893C= (p.Tyr631=) c.2094C= (p.Tyr698=) c.2130C= (p.Tyr710=) c.2106C= (p.Tyr702=) | |
13 | g.108209175G>T | CA388614063 | LIG4 | c.1893C>A (p.Tyr631Ter) c.2094C>A (p.Tyr698Ter) c.2130C>A (p.Tyr710Ter) c.2106C>A (p.Tyr702Ter) | |
13 | g.108209176T>A | CA388614064 | LIG4 | c.1892A>T (p.Tyr631Phe) c.2093A>T (p.Tyr698Phe) c.2129A>T (p.Tyr710Phe) c.2105A>T (p.Tyr702Phe) | |
13 | g.108209176T>C | CA388614066 | LIG4 | c.1892A>G (p.Tyr631Cys) c.2093A>G (p.Tyr698Cys) c.2129A>G (p.Tyr710Cys) c.2105A>G (p.Tyr702Cys) | gnomAD v4 |
13 | g.108209176T>G | CA388614067 | LIG4 | c.1892A>C (p.Tyr631Ser) c.2093A>C (p.Tyr698Ser) c.2129A>C (p.Tyr710Ser) c.2105A>C (p.Tyr702Ser) | |
13 | g.108209177A>C | CA388614071 | LIG4 | c.1891T>G (p.Tyr631Asp) c.2092T>G (p.Tyr698Asp) c.2128T>G (p.Tyr710Asp) c.2104T>G (p.Tyr702Asp) | gnomAD v4 |
13 | g.108209177A>G | CA388614069 | LIG4 | c.1891T>C (p.Tyr631His) c.2092T>C (p.Tyr698His) c.2128T>C (p.Tyr710His) c.2104T>C (p.Tyr702His) | |
13 | g.108209177A>T | CA388614068 | LIG4 | c.1891T>A (p.Tyr631Asn) c.2092T>A (p.Tyr698Asn) c.2128T>A (p.Tyr710Asn) c.2104T>A (p.Tyr702Asn) | |
13 | g.108209178C>A | CA484975391 | LIG4 | c.1890G>T (p.Thr630=) c.2091G>T (p.Thr697=) c.2127G>T (p.Thr709=) c.2103G>T (p.Thr701=) | gnomAD v4 |
13 | g.108209178C= | CA2117794076 | LIG4 | c.1890G= (p.Thr630=) c.2091G= (p.Thr697=) c.2127G= (p.Thr709=) c.2103G= (p.Thr701=) | |
13 | g.108209178C>G | CA484975393 | LIG4 | c.1890G>C (p.Thr630=) c.2091G>C (p.Thr697=) c.2127G>C (p.Thr709=) c.2103G>C (p.Thr701=) | gnomAD v4 |
13 | g.108209178C>T | CA7043560 | LIG4 | c.1890G>A (p.Thr630=) c.2091G>A (p.Thr697=) c.2127G>A (p.Thr709=) c.2103G>A (p.Thr701=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108209179G>A | CA388614074 | LIG4 | c.1889C>T (p.Thr630Met) c.2090C>T (p.Thr697Met) c.2126C>T (p.Thr709Met) c.2102C>T (p.Thr701Met) | gnomAD v4 COSMIC |
13 | g.108209179G>C | CA388614075 | LIG4 | c.1889C>G (p.Thr630Arg) c.2090C>G (p.Thr697Arg) c.2126C>G (p.Thr709Arg) c.2102C>G (p.Thr701Arg) | |
13 | g.108209179G>T | CA388614077 | LIG4 | c.1889C>A (p.Thr630Lys) c.2090C>A (p.Thr697Lys) c.2126C>A (p.Thr709Lys) c.2102C>A (p.Thr701Lys) | |
13 | g.108209180T>A | CA388614078 | LIG4 | c.1888A>T (p.Thr630Ser) c.2089A>T (p.Thr697Ser) c.2125A>T (p.Thr709Ser) c.2101A>T (p.Thr701Ser) | |
13 | g.108209180T>C | CA388614080 | LIG4 | c.1888A>G (p.Thr630Ala) c.2089A>G (p.Thr697Ala) c.2125A>G (p.Thr709Ala) c.2101A>G (p.Thr701Ala) | |
13 | g.108209180T>G | CA388614081 | LIG4 | c.1888A>C (p.Thr630Pro) c.2089A>C (p.Thr697Pro) c.2125A>C (p.Thr709Pro) c.2101A>C (p.Thr701Pro) | |
13 | g.108209181G>A | CA484975398 | LIG4 | c.1887C>T (p.Asp629=) c.2088C>T (p.Asp696=) c.2124C>T (p.Asp708=) c.2100C>T (p.Asp700=) | |
13 | g.108209181G>C | CA388614084 | LIG4 | c.1887C>G (p.Asp629Glu) c.2088C>G (p.Asp696Glu) c.2124C>G (p.Asp708Glu) c.2100C>G (p.Asp700Glu) | |
13 | g.108209181G>T | CA388614085 | LIG4 | c.1887C>A (p.Asp629Glu) c.2088C>A (p.Asp696Glu) c.2124C>A (p.Asp708Glu) c.2100C>A (p.Asp700Glu) | |
13 | g.108209182T>A | CA388614087 | LIG4 | c.1886A>T (p.Asp629Val) c.2087A>T (p.Asp696Val) c.2123A>T (p.Asp708Val) c.2099A>T (p.Asp700Val) | |
13 | g.108209182T>C | CA7043561 | LIG4 | c.1886A>G (p.Asp629Gly) c.2087A>G (p.Asp696Gly) c.2123A>G (p.Asp708Gly) c.2099A>G (p.Asp700Gly) | dbSNP ExAC gnomAD v2 |
13 | g.108209182T>G | CA388614090 | LIG4 | c.1886A>C (p.Asp629Ala) c.2087A>C (p.Asp696Ala) c.2123A>C (p.Asp708Ala) c.2099A>C (p.Asp700Ala) | |
13 | g.108209182T= | CA2117794077 | LIG4 | c.1886A= (p.Asp629=) c.2087A= (p.Asp696=) c.2123A= (p.Asp708=) c.2099A= (p.Asp700=) | |
13 | g.108209183C>A | CA388614095 | LIG4 | c.1885G>T (p.Asp629Tyr) c.2086G>T (p.Asp696Tyr) c.2122G>T (p.Asp708Tyr) c.2098G>T (p.Asp700Tyr) | |
13 | g.108209183C>G | CA388614097 | LIG4 | c.1885G>C (p.Asp629His) c.2086G>C (p.Asp696His) c.2122G>C (p.Asp708His) c.2098G>C (p.Asp700His) | COSMIC |
13 | g.108209183C>T | CA388614093 | LIG4 | c.1885G>A (p.Asp629Asn) c.2086G>A (p.Asp696Asn) c.2122G>A (p.Asp708Asn) c.2098G>A (p.Asp700Asn) | |
13 | g.108209184T>A | CA484975404 | LIG4 | c.1884A>T (p.Pro628=) c.2085A>T (p.Pro695=) c.2121A>T (p.Pro707=) c.2097A>T (p.Pro699=) | |
13 | g.108209184T>C | CA484975405 | LIG4 | c.1884A>G (p.Pro628=) c.2085A>G (p.Pro695=) c.2121A>G (p.Pro707=) c.2097A>G (p.Pro699=) | |
13 | g.108209184T>G | CA484975406 | LIG4 | c.1884A>C (p.Pro628=) c.2085A>C (p.Pro695=) c.2121A>C (p.Pro707=) c.2097A>C (p.Pro699=) | |
13 | g.108209184_108209185delinsTG | CA2117794078 | LIG4 | c.1883_1884delinsCA (p.Pro628=) c.2084_2085delinsCA (p.Pro695=) c.2120_2121delinsCA (p.Pro707=) c.2096_2097delinsCA (p.Pro699=) | |
13 | g.108209185G>A | CA388614098 | LIG4 | c.1883C>T (p.Pro628Leu) c.2084C>T (p.Pro695Leu) c.2120C>T (p.Pro707Leu) c.2096C>T (p.Pro699Leu) | |
13 | g.108209185G>C | CA388614099 | LIG4 | c.1883C>G (p.Pro628Arg) c.2084C>G (p.Pro695Arg) c.2120C>G (p.Pro707Arg) c.2096C>G (p.Pro699Arg) | |
13 | g.108209185G>T | CA388614100 | LIG4 | c.1883C>A (p.Pro628Gln) c.2084C>A (p.Pro695Gln) c.2120C>A (p.Pro707Gln) c.2096C>A (p.Pro699Gln) | |
13 | g.108209187del | CA612360450 | LIG4 | c.1883del (p.Pro628GlnfsTer6) c.2084del (p.Pro695GlnfsTer6) c.2120del (p.Pro707GlnfsTer6) c.2096del (p.Pro699GlnfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209186G>A | CA388614101 | LIG4 | c.1882C>T (p.Pro628Ser) c.2083C>T (p.Pro695Ser) c.2119C>T (p.Pro707Ser) c.2095C>T (p.Pro699Ser) | |
13 | g.108209186G>C | CA388614102 | LIG4 | c.1882C>G (p.Pro628Ala) c.2083C>G (p.Pro695Ala) c.2119C>G (p.Pro707Ala) c.2095C>G (p.Pro699Ala) | |
13 | g.108209186G>T | CA388614103 | LIG4 | c.1882C>A (p.Pro628Thr) c.2083C>A (p.Pro695Thr) c.2119C>A (p.Pro707Thr) c.2095C>A (p.Pro699Thr) | |
13 | g.108209187G>A | CA484975411 | LIG4 | c.1881C>T (p.Gly627=) c.2082C>T (p.Gly694=) c.2118C>T (p.Gly706=) c.2094C>T (p.Gly698=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209187G>C | CA484975412 | LIG4 | c.1881C>G (p.Gly627=) c.2082C>G (p.Gly694=) c.2118C>G (p.Gly706=) c.2094C>G (p.Gly698=) | |
13 | g.108209187G= | CA2117794079 | LIG4 | c.1881C= (p.Gly627=) c.2082C= (p.Gly694=) c.2118C= (p.Gly706=) c.2094C= (p.Gly698=) | |
13 | g.108209187G>T | CA484975413 | LIG4 | c.1881C>A (p.Gly627=) c.2082C>A (p.Gly694=) c.2118C>A (p.Gly706=) c.2094C>A (p.Gly698=) | |
13 | g.108209188C>A | CA388614104 | LIG4 | c.1880G>T (p.Gly627Val) c.2081G>T (p.Gly694Val) c.2117G>T (p.Gly706Val) c.2093G>T (p.Gly698Val) | |
13 | g.108209188C>G | CA388614106 | LIG4 | c.1880G>C (p.Gly627Ala) c.2081G>C (p.Gly694Ala) c.2117G>C (p.Gly706Ala) c.2093G>C (p.Gly698Ala) | |
13 | g.108209188C>T | CA388614107 | LIG4 | c.1880G>A (p.Gly627Asp) c.2081G>A (p.Gly694Asp) c.2117G>A (p.Gly706Asp) c.2093G>A (p.Gly698Asp) | |
13 | g.108209189C>A | CA388614109 | LIG4 | c.1879G>T (p.Gly627Cys) c.2080G>T (p.Gly694Cys) c.2116G>T (p.Gly706Cys) c.2092G>T (p.Gly698Cys) | |
13 | g.108209189C>G | CA388614110 | LIG4 | c.1879G>C (p.Gly627Arg) c.2080G>C (p.Gly694Arg) c.2116G>C (p.Gly706Arg) c.2092G>C (p.Gly698Arg) | |
13 | g.108209189C>T | CA388614112 | LIG4 | c.1879G>A (p.Gly627Ser) c.2080G>A (p.Gly694Ser) c.2116G>A (p.Gly706Ser) c.2092G>A (p.Gly698Ser) | |
13 | g.108209190T>A | CA484975420 | LIG4 | c.1878A>T (p.Pro626=) c.2079A>T (p.Pro693=) c.2115A>T (p.Pro705=) c.2091A>T (p.Pro697=) | |
13 | g.108209190T>C | CA484975423 | LIG4 | c.1878A>G (p.Pro626=) c.2079A>G (p.Pro693=) c.2115A>G (p.Pro705=) c.2091A>G (p.Pro697=) | |
13 | g.108209190T>G | CA484975424 | LIG4 | c.1878A>C (p.Pro626=) c.2079A>C (p.Pro693=) c.2115A>C (p.Pro705=) c.2091A>C (p.Pro697=) | |
13 | g.108209191G>A | CA256180099 | LIG4 | c.1877C>T (p.Pro626Leu) c.2078C>T (p.Pro693Leu) c.2114C>T (p.Pro705Leu) c.2090C>T (p.Pro697Leu) | dbSNP |
13 | g.108209191G>C | CA388614116 | LIG4 | c.1877C>G (p.Pro626Arg) c.2078C>G (p.Pro693Arg) c.2114C>G (p.Pro705Arg) c.2090C>G (p.Pro697Arg) | |
13 | g.108209191G= | CA2117794080 | LIG4 | c.1877C= (p.Pro626=) c.2078C= (p.Pro693=) c.2114C= (p.Pro705=) c.2090C= (p.Pro697=) | |
13 | g.108209191G>T | CA388614114 | LIG4 | c.1877C>A (p.Pro626Gln) c.2078C>A (p.Pro693Gln) c.2114C>A (p.Pro705Gln) c.2090C>A (p.Pro697Gln) | |
13 | g.108209192G>A | CA388614118 | LIG4 | c.1876C>T (p.Pro626Ser) c.2077C>T (p.Pro693Ser) c.2113C>T (p.Pro705Ser) c.2089C>T (p.Pro697Ser) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209192G>C | CA388614119 | LIG4 | c.1876C>G (p.Pro626Ala) c.2077C>G (p.Pro693Ala) c.2113C>G (p.Pro705Ala) c.2089C>G (p.Pro697Ala) | gnomAD v4 |
13 | g.108209192G= | CA2117794081 | LIG4 | c.1876C= (p.Pro626=) c.2077C= (p.Pro693=) c.2113C= (p.Pro705=) c.2089C= (p.Pro697=) | |
13 | g.108209192G>T | CA388614120 | LIG4 | c.1876C>A (p.Pro626Thr) c.2077C>A (p.Pro693Thr) c.2113C>A (p.Pro705Thr) c.2089C>A (p.Pro697Thr) | |
13 | g.108209193A>C | CA388614121 | LIG4 | c.1875T>G (p.Asn625Lys) c.2076T>G (p.Asn692Lys) c.2112T>G (p.Asn704Lys) c.2088T>G (p.Asn696Lys) | |
13 | g.108209193A>G | CA484975428 | LIG4 | c.1875T>C (p.Asn625=) c.2076T>C (p.Asn692=) c.2112T>C (p.Asn704=) c.2088T>C (p.Asn696=) | |
13 | g.108209193A>T | CA388614122 | LIG4 | c.1875T>A (p.Asn625Lys) c.2076T>A (p.Asn692Lys) c.2112T>A (p.Asn704Lys) c.2088T>A (p.Asn696Lys) | |
13 | g.108209194T>A | CA388614125 | LIG4 | c.1874A>T (p.Asn625Ile) c.2075A>T (p.Asn692Ile) c.2111A>T (p.Asn704Ile) c.2087A>T (p.Asn696Ile) | |
13 | g.108209194T>C | CA388614123 | LIG4 | c.1874A>G (p.Asn625Ser) c.2075A>G (p.Asn692Ser) c.2111A>G (p.Asn704Ser) c.2087A>G (p.Asn696Ser) | |
13 | g.108209194T>G | CA388614124 | LIG4 | c.1874A>C (p.Asn625Thr) c.2075A>C (p.Asn692Thr) c.2111A>C (p.Asn704Thr) c.2087A>C (p.Asn696Thr) | |
13 | g.108209195T>A | CA388614128 | LIG4 | c.1873A>T (p.Asn625Tyr) c.2074A>T (p.Asn692Tyr) c.2110A>T (p.Asn704Tyr) c.2086A>T (p.Asn696Tyr) | |
13 | g.108209195T>C | CA388614130 | LIG4 | c.1873A>G (p.Asn625Asp) c.2074A>G (p.Asn692Asp) c.2110A>G (p.Asn704Asp) c.2086A>G (p.Asn696Asp) | |
13 | g.108209195T>G | CA388614132 | LIG4 | c.1873A>C (p.Asn625His) c.2074A>C (p.Asn692His) c.2110A>C (p.Asn704His) c.2086A>C (p.Asn696His) | |
13 | g.108209196T>A | CA388614136 | LIG4 | c.1872A>T (p.Gln624His) c.2073A>T (p.Gln691His) c.2109A>T (p.Gln703His) c.2085A>T (p.Gln695His) | |
13 | g.108209196T>C | CA484975432 | LIG4 | c.1872A>G (p.Gln624=) c.2073A>G (p.Gln691=) c.2109A>G (p.Gln703=) c.2085A>G (p.Gln695=) | |
13 | g.108209196T>G | CA388614139 | LIG4 | c.1872A>C (p.Gln624His) c.2073A>C (p.Gln691His) c.2109A>C (p.Gln703His) c.2085A>C (p.Gln695His) | |
13 | g.108209197T>A | CA388614144 | LIG4 | c.1871A>T (p.Gln624Leu) c.2072A>T (p.Gln691Leu) c.2108A>T (p.Gln703Leu) c.2084A>T (p.Gln695Leu) | |
13 | g.108209197T>C | CA256180106 | LIG4 | c.1871A>G (p.Gln624Arg) c.2072A>G (p.Gln691Arg) c.2108A>G (p.Gln703Arg) c.2084A>G (p.Gln695Arg) | dbSNP |
13 | g.108209197T>G | CA388614142 | LIG4 | c.1871A>C (p.Gln624Pro) c.2072A>C (p.Gln691Pro) c.2108A>C (p.Gln703Pro) c.2084A>C (p.Gln695Pro) | |
13 | g.108209197T= | CA2117794082 | LIG4 | c.1871A= (p.Gln624=) c.2072A= (p.Gln691=) c.2108A= (p.Gln703=) c.2084A= (p.Gln695=) | |
13 | g.108209198G>A | CA388614145 | LIG4 | c.1870C>T (p.Gln624Ter) c.2071C>T (p.Gln691Ter) c.2107C>T (p.Gln703Ter) c.2083C>T (p.Gln695Ter) | |
13 | g.108209198G>C | CA388614149 | LIG4 | c.1870C>G (p.Gln624Glu) c.2071C>G (p.Gln691Glu) c.2107C>G (p.Gln703Glu) c.2083C>G (p.Gln695Glu) | |
13 | g.108209198G>T | CA388614147 | LIG4 | c.1870C>A (p.Gln624Lys) c.2071C>A (p.Gln691Lys) c.2107C>A (p.Gln703Lys) c.2083C>A (p.Gln695Lys) | |
13 | g.108209199T>A | CA484975437 | LIG4 | c.1869A>T (p.Val623=) c.2070A>T (p.Val690=) c.2106A>T (p.Val702=) c.2082A>T (p.Val694=) | |
13 | g.108209199T>C | CA484975438 | LIG4 | c.1869A>G (p.Val623=) c.2070A>G (p.Val690=) c.2106A>G (p.Val702=) c.2082A>G (p.Val694=) | |
13 | g.108209199T>G | CA484975439 | LIG4 | c.1869A>C (p.Val623=) c.2070A>C (p.Val690=) c.2106A>C (p.Val702=) c.2082A>C (p.Val694=) | |
13 | g.108209200A>C | CA388614150 | LIG4 | c.1868T>G (p.Val623Gly) c.2069T>G (p.Val690Gly) c.2105T>G (p.Val702Gly) c.2081T>G (p.Val694Gly) | |
13 | g.108209200A>G | CA388614154 | LIG4 | c.1868T>C (p.Val623Ala) c.2069T>C (p.Val690Ala) c.2105T>C (p.Val702Ala) c.2081T>C (p.Val694Ala) | |
13 | g.108209200A>T | CA388614152 | LIG4 | c.1868T>A (p.Val623Glu) c.2069T>A (p.Val690Glu) c.2105T>A (p.Val702Glu) c.2081T>A (p.Val694Glu) | |
13 | g.108209201C>A | CA388614155 | LIG4 | c.1867G>T (p.Val623Leu) c.2068G>T (p.Val690Leu) c.2104G>T (p.Val702Leu) c.2080G>T (p.Val694Leu) | gnomAD v4 |
13 | g.108209201C= | CA2117794083 | LIG4 | c.1867G= (p.Val623=) c.2068G= (p.Val690=) c.2104G= (p.Val702=) c.2080G= (p.Val694=) | |
13 | g.108209201C>G | CA388614159 | LIG4 | c.1867G>C (p.Val623Leu) c.2068G>C (p.Val690Leu) c.2104G>C (p.Val702Leu) c.2080G>C (p.Val694Leu) | |
13 | g.108209201C>T | CA388614157 | LIG4 | c.1867G>A (p.Val623Ile) c.2068G>A (p.Val690Ile) c.2104G>A (p.Val702Ile) c.2080G>A (p.Val694Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209202T>A | CA484975441 | LIG4 | c.1866A>T (p.Ile622=) c.2067A>T (p.Ile689=) c.2103A>T (p.Ile701=) c.2079A>T (p.Ile693=) | ClinVar |
13 | g.108209202T>C | CA256180112 | LIG4 | c.1866A>G (p.Ile622Met) c.2067A>G (p.Ile689Met) c.2103A>G (p.Ile701Met) c.2079A>G (p.Ile693Met) | dbSNP |
13 | g.108209202T>G | CA484975443 | LIG4 | c.1866A>C (p.Ile622=) c.2067A>C (p.Ile689=) c.2103A>C (p.Ile701=) c.2079A>C (p.Ile693=) | |
13 | g.108209202T= | CA2117794084 | LIG4 | c.1866A= (p.Ile622=) c.2067A= (p.Ile689=) c.2103A= (p.Ile701=) c.2079A= (p.Ile693=) | |
13 | g.108209203A= | CA2117794085 | LIG4 | c.1865T= (p.Ile622=) c.2066T= (p.Ile689=) c.2102T= (p.Ile701=) c.2078T= (p.Ile693=) | |
13 | g.108209203A>C | CA388614161 | LIG4 | c.1865T>G (p.Ile622Arg) c.2066T>G (p.Ile689Arg) c.2102T>G (p.Ile701Arg) c.2078T>G (p.Ile693Arg) | |
13 | g.108209203A>G | CA7043562 | LIG4 | c.1865T>C (p.Ile622Thr) c.2066T>C (p.Ile689Thr) c.2102T>C (p.Ile701Thr) c.2078T>C (p.Ile693Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209203A>T | CA388614164 | LIG4 | c.1865T>A (p.Ile622Lys) c.2066T>A (p.Ile689Lys) c.2102T>A (p.Ile701Lys) c.2078T>A (p.Ile693Lys) | |
13 | g.108209204T>A | CA388614167 | LIG4 | c.1864A>T (p.Ile622Leu) c.2065A>T (p.Ile689Leu) c.2101A>T (p.Ile701Leu) c.2077A>T (p.Ile693Leu) | |
13 | g.108209204T>C | CA388614171 | LIG4 | c.1864A>G (p.Ile622Val) c.2065A>G (p.Ile689Val) c.2101A>G (p.Ile701Val) c.2077A>G (p.Ile693Val) | dbSNP gnomAD v4 |
13 | g.108209204T>G | CA388614174 | LIG4 | c.1864A>C (p.Ile622Leu) c.2065A>C (p.Ile689Leu) c.2101A>C (p.Ile701Leu) c.2077A>C (p.Ile693Leu) | |
13 | g.108209204T= | CA2117794086 | LIG4 | c.1864A= (p.Ile622=) c.2065A= (p.Ile689=) c.2101A= (p.Ile701=) c.2077A= (p.Ile693=) | |
13 | g.108209205A= | CA2117794087 | LIG4 | c.1863T= (p.Tyr621=) c.2064T= (p.Tyr688=) c.2100T= (p.Tyr700=) c.2076T= (p.Tyr692=) | |
13 | g.108209205A>C | CA388614176 | LIG4 | c.1863T>G (p.Tyr621Ter) c.2064T>G (p.Tyr688Ter) c.2100T>G (p.Tyr700Ter) c.2076T>G (p.Tyr692Ter) | |
13 | g.108209205A>G | CA484975452 | LIG4 | c.1863T>C (p.Tyr621=) c.2064T>C (p.Tyr688=) c.2100T>C (p.Tyr700=) c.2076T>C (p.Tyr692=) | dbSNP |
13 | g.108209205A>T | CA388614179 | LIG4 | c.1863T>A (p.Tyr621Ter) c.2064T>A (p.Tyr688Ter) c.2100T>A (p.Tyr700Ter) c.2076T>A (p.Tyr692Ter) | |
13 | g.108209206T>A | CA388614183 | LIG4 | c.1862A>T (p.Tyr621Phe) c.2063A>T (p.Tyr688Phe) c.2099A>T (p.Tyr700Phe) c.2075A>T (p.Tyr692Phe) | |
13 | g.108209206T>C | CA388614185 | LIG4 | c.1862A>G (p.Tyr621Cys) c.2063A>G (p.Tyr688Cys) c.2099A>G (p.Tyr700Cys) c.2075A>G (p.Tyr692Cys) | gnomAD v4 |
13 | g.108209206T>G | CA388614186 | LIG4 | c.1862A>C (p.Tyr621Ser) c.2063A>C (p.Tyr688Ser) c.2099A>C (p.Tyr700Ser) c.2075A>C (p.Tyr692Ser) | |
13 | g.108209207A= | CA2117794088 | LIG4 | c.1861T= (p.Tyr621=) c.2062T= (p.Tyr688=) c.2098T= (p.Tyr700=) c.2074T= (p.Tyr692=) | |
13 | g.108209207A>C | CA388614189 | LIG4 | c.1861T>G (p.Tyr621Asp) c.2062T>G (p.Tyr688Asp) c.2098T>G (p.Tyr700Asp) c.2074T>G (p.Tyr692Asp) | |
13 | g.108209207A>G | CA388614194 | LIG4 | c.1861T>C (p.Tyr621His) c.2062T>C (p.Tyr688His) c.2098T>C (p.Tyr700His) c.2074T>C (p.Tyr692His) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209207A>T | CA388614192 | LIG4 | c.1861T>A (p.Tyr621Asn) c.2062T>A (p.Tyr688Asn) c.2098T>A (p.Tyr700Asn) c.2074T>A (p.Tyr692Asn) | |
13 | g.108209208A>C | CA484975458 | LIG4 | c.1860T>G (p.Gly620=) c.2061T>G (p.Gly687=) c.2097T>G (p.Gly699=) c.2073T>G (p.Gly691=) | COSMIC |
13 | g.108209208A>G | CA484975459 | LIG4 | c.1860T>C (p.Gly620=) c.2061T>C (p.Gly687=) c.2097T>C (p.Gly699=) c.2073T>C (p.Gly691=) | |
13 | g.108209208A>T | CA484975461 | LIG4 | c.1860T>A (p.Gly620=) c.2061T>A (p.Gly687=) c.2097T>A (p.Gly699=) c.2073T>A (p.Gly691=) | |
13 | g.108209209C>A | CA388614196 | LIG4 | c.1859G>T (p.Gly620Val) c.2060G>T (p.Gly687Val) c.2096G>T (p.Gly699Val) c.2072G>T (p.Gly691Val) | gnomAD v4 |
13 | g.108209209C= | CA2117794089 | LIG4 | c.1859G= (p.Gly620=) c.2060G= (p.Gly687=) c.2096G= (p.Gly699=) c.2072G= (p.Gly691=) | |
13 | g.108209209C>G | CA388614198 | LIG4 | c.1859G>C (p.Gly620Ala) c.2060G>C (p.Gly687Ala) c.2096G>C (p.Gly699Ala) c.2072G>C (p.Gly691Ala) | dbSNP |
13 | g.108209209C>T | CA388614201 | LIG4 | c.1859G>A (p.Gly620Asp) c.2060G>A (p.Gly687Asp) c.2096G>A (p.Gly699Asp) c.2072G>A (p.Gly691Asp) | |
13 | g.108209210C>A | CA388614205 | LIG4 | c.1858G>T (p.Gly620Cys) c.2059G>T (p.Gly687Cys) c.2095G>T (p.Gly699Cys) c.2071G>T (p.Gly691Cys) | dbSNP COSMIC |
13 | g.108209210C= | CA2117794090 | LIG4 | c.1858G= (p.Gly620=) c.2059G= (p.Gly687=) c.2095G= (p.Gly699=) c.2071G= (p.Gly691=) | |
13 | g.108209210C>G | CA388614208 | LIG4 | c.1858G>C (p.Gly620Arg) c.2059G>C (p.Gly687Arg) c.2095G>C (p.Gly699Arg) c.2071G>C (p.Gly691Arg) | |
13 | g.108209210C>T | CA388614210 | LIG4 | c.1858G>A (p.Gly620Ser) c.2059G>A (p.Gly687Ser) c.2095G>A (p.Gly699Ser) c.2071G>A (p.Gly691Ser) | ClinVar gnomAD v4 |
13 | g.108209211A>C | CA484975462 | LIG4 | c.1857T>G (p.Gly619=) c.2058T>G (p.Gly686=) c.2094T>G (p.Gly698=) c.2070T>G (p.Gly690=) | |
13 | g.108209211A>G | CA484975463 | LIG4 | c.1857T>C (p.Gly619=) c.2058T>C (p.Gly686=) c.2094T>C (p.Gly698=) c.2070T>C (p.Gly690=) | |
13 | g.108209211A>T | CA484975464 | LIG4 | c.1857T>A (p.Gly619=) c.2058T>A (p.Gly686=) c.2094T>A (p.Gly698=) c.2070T>A (p.Gly690=) | |
13 | g.108209212C>A | CA388614211 | LIG4 | c.1856G>T (p.Gly619Val) c.2057G>T (p.Gly686Val) c.2093G>T (p.Gly698Val) c.2069G>T (p.Gly690Val) | |
13 | g.108209212C>G | CA388614213 | LIG4 | c.1856G>C (p.Gly619Ala) c.2057G>C (p.Gly686Ala) c.2093G>C (p.Gly698Ala) c.2069G>C (p.Gly690Ala) | |
13 | g.108209212C>T | CA388614216 | LIG4 | c.1856G>A (p.Gly619Asp) c.2057G>A (p.Gly686Asp) c.2093G>A (p.Gly698Asp) c.2069G>A (p.Gly690Asp) | |
13 | g.108209213C>A | CA388614218 | LIG4 | c.1855G>T (p.Gly619Cys) c.2056G>T (p.Gly686Cys) c.2092G>T (p.Gly698Cys) c.2068G>T (p.Gly690Cys) | |
13 | g.108209213C= | CA2117794091 | LIG4 | c.1855G= (p.Gly619=) c.2056G= (p.Gly686=) c.2092G= (p.Gly698=) c.2068G= (p.Gly690=) | |
13 | g.108209213C>G | CA388614219 | LIG4 | c.1855G>C (p.Gly619Arg) c.2056G>C (p.Gly686Arg) c.2092G>C (p.Gly698Arg) c.2068G>C (p.Gly690Arg) | |
13 | g.108209213C>T | CA388614217 | LIG4 | c.1855G>A (p.Gly619Ser) c.2056G>A (p.Gly686Ser) c.2092G>A (p.Gly698Ser) c.2068G>A (p.Gly690Ser) | dbSNP gnomAD v2 gnomAD v4 |