Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |
13 | g.108209214A>C | CA388614222 | LIG4 | c.1854T>G (p.Phe618Leu) c.2055T>G (p.Phe685Leu) c.2091T>G (p.Phe697Leu) c.2067T>G (p.Phe689Leu) | |
13 | g.108209214A>G | CA484975472 | LIG4 | c.1854T>C (p.Phe618=) c.2055T>C (p.Phe685=) c.2091T>C (p.Phe697=) c.2067T>C (p.Phe689=) | |
13 | g.108209214A>T | CA388614225 | LIG4 | c.1854T>A (p.Phe618Leu) c.2055T>A (p.Phe685Leu) c.2091T>A (p.Phe697Leu) c.2067T>A (p.Phe689Leu) | |
13 | g.108209215A>C | CA388614227 | LIG4 | c.1853T>G (p.Phe618Cys) c.2054T>G (p.Phe685Cys) c.2090T>G (p.Phe697Cys) c.2066T>G (p.Phe689Cys) | |
13 | g.108209215A>G | CA388614228 | LIG4 | c.1853T>C (p.Phe618Ser) c.2054T>C (p.Phe685Ser) c.2090T>C (p.Phe697Ser) c.2066T>C (p.Phe689Ser) | |
13 | g.108209215A>T | CA388614230 | LIG4 | c.1853T>A (p.Phe618Tyr) c.2054T>A (p.Phe685Tyr) c.2090T>A (p.Phe697Tyr) c.2066T>A (p.Phe689Tyr) | |
13 | g.108209216A>C | CA388614232 | LIG4 | c.1852T>G (p.Phe618Val) c.2053T>G (p.Phe685Val) c.2089T>G (p.Phe697Val) c.2065T>G (p.Phe689Val) | |
13 | g.108209216A>G | CA388614235 | LIG4 | c.1852T>C (p.Phe618Leu) c.2053T>C (p.Phe685Leu) c.2089T>C (p.Phe697Leu) c.2065T>C (p.Phe689Leu) | |
13 | g.108209216A>T | CA388614237 | LIG4 | c.1852T>A (p.Phe618Ile) c.2053T>A (p.Phe685Ile) c.2089T>A (p.Phe697Ile) c.2065T>A (p.Phe689Ile) | |
13 | g.108209217T>A | CA388614239 | LIG4 | c.1851A>T (p.Glu617Asp) c.2052A>T (p.Glu684Asp) c.2088A>T (p.Glu696Asp) c.2064A>T (p.Glu688Asp) | |
13 | g.108209217T>C | CA484975479 | LIG4 | c.1851A>G (p.Glu617=) c.2052A>G (p.Glu684=) c.2088A>G (p.Glu696=) c.2064A>G (p.Glu688=) | |
13 | g.108209217T>G | CA388614241 | LIG4 | c.1851A>C (p.Glu617Asp) c.2052A>C (p.Glu684Asp) c.2088A>C (p.Glu696Asp) c.2064A>C (p.Glu688Asp) | |
13 | g.108209218T>A | CA388614244 | LIG4 | c.1850A>T (p.Glu617Val) c.2051A>T (p.Glu684Val) c.2087A>T (p.Glu696Val) c.2063A>T (p.Glu688Val) | |
13 | g.108209218T>C | CA388614246 | LIG4 | c.1850A>G (p.Glu617Gly) c.2051A>G (p.Glu684Gly) c.2087A>G (p.Glu696Gly) c.2063A>G (p.Glu688Gly) | |
13 | g.108209218T>G | CA388614249 | LIG4 | c.1850A>C (p.Glu617Ala) c.2051A>C (p.Glu684Ala) c.2087A>C (p.Glu696Ala) c.2063A>C (p.Glu688Ala) | gnomAD v4 |
13 | g.108209219C>A | CA388614259 | LIG4 | c.1849G>T (p.Glu617Ter) c.2050G>T (p.Glu684Ter) c.2086G>T (p.Glu696Ter) c.2062G>T (p.Glu688Ter) | |
13 | g.108209219C= | CA2117794092 | LIG4 | c.1849G= (p.Glu617=) c.2050G= (p.Glu684=) c.2086G= (p.Glu696=) c.2062G= (p.Glu688=) | |
13 | g.108209219C>G | CA388614253 | LIG4 | c.1849G>C (p.Glu617Gln) c.2050G>C (p.Glu684Gln) c.2086G>C (p.Glu696Gln) c.2062G>C (p.Glu688Gln) | dbSNP |
13 | g.108209219C>T | CA7043563 | LIG4 | c.1849G>A (p.Glu617Lys) c.2050G>A (p.Glu684Lys) c.2086G>A (p.Glu696Lys) c.2062G>A (p.Glu688Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209220T>A | CA484975092 | LIG4 | c.1848A>T (p.Ala616=) c.2049A>T (p.Ala683=) c.2085A>T (p.Ala695=) c.2061A>T (p.Ala687=) | |
13 | g.108209220T>C | CA484975097 | LIG4 | c.1848A>G (p.Ala616=) c.2049A>G (p.Ala683=) c.2085A>G (p.Ala695=) c.2061A>G (p.Ala687=) | |
13 | g.108209220T>G | CA484975095 | LIG4 | c.1848A>C (p.Ala616=) c.2049A>C (p.Ala683=) c.2085A>C (p.Ala695=) c.2061A>C (p.Ala687=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209220T= | CA2117794093 | LIG4 | c.1848A= (p.Ala616=) c.2049A= (p.Ala683=) c.2085A= (p.Ala695=) c.2061A= (p.Ala687=) | |
13 | g.108209221G>A | CA388614261 | LIG4 | c.1847C>T (p.Ala616Val) c.2048C>T (p.Ala683Val) c.2084C>T (p.Ala695Val) c.2060C>T (p.Ala687Val) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209221G>C | CA388614262 | LIG4 | c.1847C>G (p.Ala616Gly) c.2048C>G (p.Ala683Gly) c.2084C>G (p.Ala695Gly) c.2060C>G (p.Ala687Gly) | dbSNP |
13 | g.108209221G= | CA2117794094 | LIG4 | c.1847C= (p.Ala616=) c.2048C= (p.Ala683=) c.2084C= (p.Ala695=) c.2060C= (p.Ala687=) | |
13 | g.108209221G>T | CA388614263 | LIG4 | c.1847C>A (p.Ala616Glu) c.2048C>A (p.Ala683Glu) c.2084C>A (p.Ala695Glu) c.2060C>A (p.Ala687Glu) | |
13 | g.108209222C>A | CA388614266 | LIG4 | c.1846G>T (p.Ala616Ser) c.2047G>T (p.Ala683Ser) c.2083G>T (p.Ala695Ser) c.2059G>T (p.Ala687Ser) | |
13 | g.108209222C>G | CA388614269 | LIG4 | c.1846G>C (p.Ala616Pro) c.2047G>C (p.Ala683Pro) c.2083G>C (p.Ala695Pro) c.2059G>C (p.Ala687Pro) | |
13 | g.108209222C>T | CA388614271 | LIG4 | c.1846G>A (p.Ala616Thr) c.2047G>A (p.Ala683Thr) c.2083G>A (p.Ala695Thr) c.2059G>A (p.Ala687Thr) | |
13 | g.108209223A>C | CA388614274 | LIG4 | c.1845T>G (p.Ile615Met) c.2046T>G (p.Ile682Met) c.2082T>G (p.Ile694Met) c.2058T>G (p.Ile686Met) | ClinVar dbSNP |
13 | g.108209223A>G | CA484975099 | LIG4 | c.1845T>C (p.Ile615=) c.2046T>C (p.Ile682=) c.2082T>C (p.Ile694=) c.2058T>C (p.Ile686=) | |
13 | g.108209223A>T | CA484975100 | LIG4 | c.1845T>A (p.Ile615=) c.2046T>A (p.Ile682=) c.2082T>A (p.Ile694=) c.2058T>A (p.Ile686=) | |
13 | g.108209224A= | CA2117794095 | LIG4 | c.1844T= (p.Ile615=) c.2045T= (p.Ile682=) c.2081T= (p.Ile694=) c.2057T= (p.Ile686=) | |
13 | g.108209224A>C | CA388614277 | LIG4 | c.1844T>G (p.Ile615Ser) c.2045T>G (p.Ile682Ser) c.2081T>G (p.Ile694Ser) c.2057T>G (p.Ile686Ser) | |
13 | g.108209224A>G | CA7043564 | LIG4 | c.1844T>C (p.Ile615Thr) c.2045T>C (p.Ile682Thr) c.2081T>C (p.Ile694Thr) c.2057T>C (p.Ile686Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209224A>T | CA388614278 | LIG4 | c.1844T>A (p.Ile615Asn) c.2045T>A (p.Ile682Asn) c.2081T>A (p.Ile694Asn) c.2057T>A (p.Ile686Asn) | |
13 | g.108209225T>A | CA388614279 | LIG4 | c.1843A>T (p.Ile615Phe) c.2044A>T (p.Ile682Phe) c.2080A>T (p.Ile694Phe) c.2056A>T (p.Ile686Phe) | |
13 | g.108209225T>C | CA388614283 | LIG4 | c.1843A>G (p.Ile615Val) c.2044A>G (p.Ile682Val) c.2080A>G (p.Ile694Val) c.2056A>G (p.Ile686Val) | |
13 | g.108209225T>G | CA7043565 | LIG4 | c.1843A>C (p.Ile615Leu) c.2044A>C (p.Ile682Leu) c.2080A>C (p.Ile694Leu) c.2056A>C (p.Ile686Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209225T= | CA2117794096 | LIG4 | c.1843A= (p.Ile615=) c.2044A= (p.Ile682=) c.2080A= (p.Ile694=) c.2056A= (p.Ile686=) | |
13 | g.108209226T>A | CA388614287 | LIG4 | c.1842A>T (p.Arg614Ser) c.2043A>T (p.Arg681Ser) c.2079A>T (p.Arg693Ser) c.2055A>T (p.Arg685Ser) | |
13 | g.108209226T>C | CA484975103 | LIG4 | c.1842A>G (p.Arg614=) c.2043A>G (p.Arg681=) c.2079A>G (p.Arg693=) c.2055A>G (p.Arg685=) | |
13 | g.108209226T>G | CA388614290 | LIG4 | c.1842A>C (p.Arg614Ser) c.2043A>C (p.Arg681Ser) c.2079A>C (p.Arg693Ser) c.2055A>C (p.Arg685Ser) | |
13 | g.108209227C>A | CA388614293 | LIG4 | c.1841G>T (p.Arg614Ile) c.2042G>T (p.Arg681Ile) c.2078G>T (p.Arg693Ile) c.2054G>T (p.Arg685Ile) | COSMIC |
13 | g.108209227C= | CA2117794097 | LIG4 | c.1841G= (p.Arg614=) c.2042G= (p.Arg681=) c.2078G= (p.Arg693=) c.2054G= (p.Arg685=) | |
13 | g.108209227C>G | CA388614299 | LIG4 | c.1841G>C (p.Arg614Thr) c.2042G>C (p.Arg681Thr) c.2078G>C (p.Arg693Thr) c.2054G>C (p.Arg685Thr) | |
13 | g.108209227C>T | CA7043566 | LIG4 | c.1841G>A (p.Arg614Lys) c.2042G>A (p.Arg681Lys) c.2078G>A (p.Arg693Lys) c.2054G>A (p.Arg685Lys) | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.108209228T>A | CA7043567 | LIG4 | c.1840A>T (p.Arg614Ter) c.2041A>T (p.Arg681Ter) c.2077A>T (p.Arg693Ter) c.2053A>T (p.Arg685Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209228T>C | CA388614302 | LIG4 | c.1840A>G (p.Arg614Gly) c.2041A>G (p.Arg681Gly) c.2077A>G (p.Arg693Gly) c.2053A>G (p.Arg685Gly) | dbSNP |
13 | g.108209228T>G | CA484975106 | LIG4 | c.1840A>C (p.Arg614=) c.2041A>C (p.Arg681=) c.2077A>C (p.Arg693=) c.2053A>C (p.Arg685=) | gnomAD v4 |
13 | g.108209228T= | CA2117794098 | LIG4 | c.1840A= (p.Arg614=) c.2041A= (p.Arg681=) c.2077A= (p.Arg693=) c.2053A= (p.Arg685=) | |
13 | g.108209229G>A | CA484975108 | LIG4 | c.1839C>T (p.Asn613=) c.2040C>T (p.Asn680=) c.2076C>T (p.Asn692=) c.2052C>T (p.Asn684=) | ClinVar gnomAD v4 |
13 | g.108209229G>C | CA388614303 | LIG4 | c.1839C>G (p.Asn613Lys) c.2040C>G (p.Asn680Lys) c.2076C>G (p.Asn692Lys) c.2052C>G (p.Asn684Lys) | |
13 | g.108209229G>T | CA388614305 | LIG4 | c.1839C>A (p.Asn613Lys) c.2040C>A (p.Asn680Lys) c.2076C>A (p.Asn692Lys) c.2052C>A (p.Asn684Lys) | |
13 | g.108209230T>A | CA388614310 | LIG4 | c.1838A>T (p.Asn613Ile) c.2039A>T (p.Asn680Ile) c.2075A>T (p.Asn692Ile) c.2051A>T (p.Asn684Ile) | |
13 | g.108209230T>C | CA256180176 | LIG4 | c.1838A>G (p.Asn613Ser) c.2039A>G (p.Asn680Ser) c.2075A>G (p.Asn692Ser) c.2051A>G (p.Asn684Ser) | dbSNP |
13 | g.108209230T>G | CA388614313 | LIG4 | c.1838A>C (p.Asn613Thr) c.2039A>C (p.Asn680Thr) c.2075A>C (p.Asn692Thr) c.2051A>C (p.Asn684Thr) | dbSNP |
13 | g.108209230T= | CA2117794099 | LIG4 | c.1838A= (p.Asn613=) c.2039A= (p.Asn680=) c.2075A= (p.Asn692=) c.2051A= (p.Asn684=) | |
13 | g.108209231T>A | CA388614315 | LIG4 | c.1837A>T (p.Asn613Tyr) c.2038A>T (p.Asn680Tyr) c.2074A>T (p.Asn692Tyr) c.2050A>T (p.Asn684Tyr) | |
13 | g.108209231T>C | CA388614318 | LIG4 | c.1837A>G (p.Asn613Asp) c.2038A>G (p.Asn680Asp) c.2074A>G (p.Asn692Asp) c.2050A>G (p.Asn684Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.108209231T>G | CA388614327 | LIG4 | c.1837A>C (p.Asn613His) c.2038A>C (p.Asn680His) c.2074A>C (p.Asn692His) c.2050A>C (p.Asn684His) | |
13 | g.108209232C>A | CA388614333 | LIG4 | c.1836G>T (p.Glu612Asp) c.2037G>T (p.Glu679Asp) c.2073G>T (p.Glu691Asp) c.2049G>T (p.Glu683Asp) | |
13 | g.108209232C>G | CA388614336 | LIG4 | c.1836G>C (p.Glu612Asp) c.2037G>C (p.Glu679Asp) c.2073G>C (p.Glu691Asp) c.2049G>C (p.Glu683Asp) | |
13 | g.108209232C>T | CA484975118 | LIG4 | c.1836G>A (p.Glu612=) c.2037G>A (p.Glu679=) c.2073G>A (p.Glu691=) c.2049G>A (p.Glu683=) | |
13 | g.108209233T>A | CA388614339 | LIG4 | c.1835A>T (p.Glu612Val) c.2036A>T (p.Glu679Val) c.2072A>T (p.Glu691Val) c.2048A>T (p.Glu683Val) | |
13 | g.108209233T>C | CA388614344 | LIG4 | c.1835A>G (p.Glu612Gly) c.2036A>G (p.Glu679Gly) c.2072A>G (p.Glu691Gly) c.2048A>G (p.Glu683Gly) | |
13 | g.108209233T>G | CA388614342 | LIG4 | c.1835A>C (p.Glu612Ala) c.2036A>C (p.Glu679Ala) c.2072A>C (p.Glu691Ala) c.2048A>C (p.Glu683Ala) | |
13 | g.108209234C>A | CA388614348 | LIG4 | c.1834G>T (p.Glu612Ter) c.2035G>T (p.Glu679Ter) c.2071G>T (p.Glu691Ter) c.2047G>T (p.Glu683Ter) | |
13 | g.108209234C= | CA2117794100 | LIG4 | c.1834G= (p.Glu612=) c.2035G= (p.Glu679=) c.2071G= (p.Glu691=) c.2047G= (p.Glu683=) | |
13 | g.108209234C>G | CA256180199 | LIG4 | c.1834G>C (p.Glu612Gln) c.2035G>C (p.Glu679Gln) c.2071G>C (p.Glu691Gln) c.2047G>C (p.Glu683Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209234C>T | CA388614360 | LIG4 | c.1834G>A (p.Glu612Lys) c.2035G>A (p.Glu679Lys) c.2071G>A (p.Glu691Lys) c.2047G>A (p.Glu683Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.108209235C>A | CA484975122 | LIG4 | c.1833G>T (p.Leu611=) c.2034G>T (p.Leu678=) c.2070G>T (p.Leu690=) c.2046G>T (p.Leu682=) | |
13 | g.108209235C>G | CA484975124 | LIG4 | c.1833G>C (p.Leu611=) c.2034G>C (p.Leu678=) c.2070G>C (p.Leu690=) c.2046G>C (p.Leu682=) | |
13 | g.108209235C>T | CA484975125 | LIG4 | c.1833G>A (p.Leu611=) c.2034G>A (p.Leu678=) c.2070G>A (p.Leu690=) c.2046G>A (p.Leu682=) |