Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108209099_108209119delCA2623644098LIG4c.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
13g.108209114_108209133delinsCATGTTTATTTGACAAAATTCA2117794052LIG4c.1935_1954delinsAATTTTGTCAAATAAACATG (p.Ile645=)
c.2136_2155delinsAATTTTGTCAAATAAACATG (p.Ile712=)
c.2172_2191delinsAATTTTGTCAAATAAACATG (p.Ile724=)
c.2148_2167delinsAATTTTGTCAAATAAACATG (p.Ile716=)
13g.108209121_108209139delCA7043553LIG4c.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
13g.108209117_108209121delinsGTTTACA2117794053LIG4c.1947_1951delinsTAAAC (p.Asn649=)
c.2148_2152delinsTAAAC (p.Asn716=)
c.2184_2188delinsTAAAC (p.Asn728=)
c.2160_2164delinsTAAAC (p.Asn720=)
13g.108209118T>ACA388613914LIG4c.1950A>T (p.Lys650Asn)
c.2151A>T (p.Lys717Asn)
c.2187A>T (p.Lys729Asn)
c.2163A>T (p.Lys721Asn)
13g.108209118T>CCA484975254LIG4c.1950A>G (p.Lys650=)
c.2151A>G (p.Lys717=)
c.2187A>G (p.Lys729=)
c.2163A>G (p.Lys721=)
13g.108209118T>GCA388613913LIG4c.1950A>C (p.Lys650Asn)
c.2151A>C (p.Lys717Asn)
c.2187A>C (p.Lys729Asn)
c.2163A>C (p.Lys721Asn)
13g.108209121_108209124delCA7043554LIG4c.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
13g.108209119T>ACA388613915LIG4c.1949A>T (p.Lys650Ile)
c.2150A>T (p.Lys717Ile)
c.2186A>T (p.Lys729Ile)
c.2162A>T (p.Lys721Ile)
13g.108209119T>CCA388613916LIG4c.1949A>G (p.Lys650Arg)
c.2150A>G (p.Lys717Arg)
c.2186A>G (p.Lys729Arg)
c.2162A>G (p.Lys721Arg)
13g.108209119T>GCA388613917LIG4c.1949A>C (p.Lys650Thr)
c.2150A>C (p.Lys717Thr)
c.2186A>C (p.Lys729Thr)
c.2162A>C (p.Lys721Thr)
 gnomAD v4
13g.108209120T>ACA388613918LIG4c.1948A>T (p.Lys650Ter)
c.2149A>T (p.Lys717Ter)
c.2185A>T (p.Lys729Ter)
c.2161A>T (p.Lys721Ter)
13g.108209120T>CCA388613919LIG4c.1948A>G (p.Lys650Glu)
c.2149A>G (p.Lys717Glu)
c.2185A>G (p.Lys729Glu)
c.2161A>G (p.Lys721Glu)
13g.108209120T>GCA388613920LIG4c.1948A>C (p.Lys650Gln)
c.2149A>C (p.Lys717Gln)
c.2185A>C (p.Lys729Gln)
c.2161A>C (p.Lys721Gln)
13g.108209121A>CCA388613921LIG4c.1947T>G (p.Asn649Lys)
c.2148T>G (p.Asn716Lys)
c.2184T>G (p.Asn728Lys)
c.2160T>G (p.Asn720Lys)
13g.108209121A>GCA484975262LIG4c.1947T>C (p.Asn649=)
c.2148T>C (p.Asn716=)
c.2184T>C (p.Asn728=)
c.2160T>C (p.Asn720=)
13g.108209121A>TCA388613922LIG4c.1947T>A (p.Asn649Lys)
c.2148T>A (p.Asn716Lys)
c.2184T>A (p.Asn728Lys)
c.2160T>A (p.Asn720Lys)
13g.108209122T>ACA388613923LIG4c.1946A>T (p.Asn649Ile)
c.2147A>T (p.Asn716Ile)
c.2183A>T (p.Asn728Ile)
c.2159A>T (p.Asn720Ile)
13g.108209122T>CCA388613924LIG4c.1946A>G (p.Asn649Ser)
c.2147A>G (p.Asn716Ser)
c.2183A>G (p.Asn728Ser)
c.2159A>G (p.Asn720Ser)
13g.108209122T>GCA388613925LIG4c.1946A>C (p.Asn649Thr)
c.2147A>C (p.Asn716Thr)
c.2183A>C (p.Asn728Thr)
c.2159A>C (p.Asn720Thr)
13g.108209123T>ACA388613927LIG4c.1945A>T (p.Asn649Tyr)
c.2146A>T (p.Asn716Tyr)
c.2182A>T (p.Asn728Tyr)
c.2158A>T (p.Asn720Tyr)
13g.108209123T>CCA7043555LIG4c.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
13g.108209123T>GCA388613926LIG4c.1945A>C (p.Asn649His)
c.2146A>C (p.Asn716His)
c.2182A>C (p.Asn728His)
c.2158A>C (p.Asn720His)
13g.108209123T=CA2117794054LIG4c.1945A= (p.Asn649=)
c.2146A= (p.Asn716=)
c.2182A= (p.Asn728=)
c.2158A= (p.Asn720=)
13g.108209124T>ACA484975268LIG4c.1944A>T (p.Ser648=)
c.2145A>T (p.Ser715=)
c.2181A>T (p.Ser727=)
c.2157A>T (p.Ser719=)
13g.108209124T>CCA484975266LIG4c.1944A>G (p.Ser648=)
c.2145A>G (p.Ser715=)
c.2181A>G (p.Ser727=)
c.2157A>G (p.Ser719=)
13g.108209124T>GCA484975264LIG4c.1944A>C (p.Ser648=)
c.2145A>C (p.Ser715=)
c.2181A>C (p.Ser727=)
c.2157A>C (p.Ser719=)
13g.108209125G>ACA388613928LIG4c.1943C>T (p.Ser648Leu)
c.2144C>T (p.Ser715Leu)
c.2180C>T (p.Ser727Leu)
c.2156C>T (p.Ser719Leu)
13g.108209125G>CCA388613929LIG4c.1943C>G (p.Ser648Ter)
c.2144C>G (p.Ser715Ter)
c.2180C>G (p.Ser727Ter)
c.2156C>G (p.Ser719Ter)
 gnomAD v4
13g.108209125G>TCA388613930LIG4c.1943C>A (p.Ser648Ter)
c.2144C>A (p.Ser715Ter)
c.2180C>A (p.Ser727Ter)
c.2156C>A (p.Ser719Ter)
13g.108209126A=CA2117794055LIG4c.1942T= (p.Ser648=)
c.2143T= (p.Ser715=)
c.2179T= (p.Ser727=)
c.2155T= (p.Ser719=)
13g.108209126A>CCA388613931LIG4c.1942T>G (p.Ser648Ala)
c.2143T>G (p.Ser715Ala)
c.2179T>G (p.Ser727Ala)
c.2155T>G (p.Ser719Ala)
13g.108209126A>GCA256180025LIG4c.1942T>C (p.Ser648Pro)
c.2143T>C (p.Ser715Pro)
c.2179T>C (p.Ser727Pro)
c.2155T>C (p.Ser719Pro)
 dbSNP gnomAD v4
13g.108209126A>TCA388613932LIG4c.1942T>A (p.Ser648Thr)
c.2143T>A (p.Ser715Thr)
c.2179T>A (p.Ser727Thr)
c.2155T>A (p.Ser719Thr)
 ClinVar dbSNP
13g.108209127C>ACA388613933LIG4c.1941G>T (p.Leu647Phe)
c.2142G>T (p.Leu714Phe)
c.2178G>T (p.Leu726Phe)
c.2154G>T (p.Leu718Phe)
 gnomAD v4
13g.108209127C>GCA388613934LIG4c.1941G>C (p.Leu647Phe)
c.2142G>C (p.Leu714Phe)
c.2178G>C (p.Leu726Phe)
c.2154G>C (p.Leu718Phe)
13g.108209127C>TCA484975272LIG4c.1941G>A (p.Leu647=)
c.2142G>A (p.Leu714=)
c.2178G>A (p.Leu726=)
c.2154G>A (p.Leu718=)
13g.108209128A>CCA388613935LIG4c.1940T>G (p.Leu647Trp)
c.2141T>G (p.Leu714Trp)
c.2177T>G (p.Leu726Trp)
c.2153T>G (p.Leu718Trp)
13g.108209128A>GCA388613936LIG4c.1940T>C (p.Leu647Ser)
c.2141T>C (p.Leu714Ser)
c.2177T>C (p.Leu726Ser)
c.2153T>C (p.Leu718Ser)
 dbSNP gnomAD v4
13g.108209128A>TCA388613937LIG4c.1940T>A (p.Leu647Ter)
c.2141T>A (p.Leu714Ter)
c.2177T>A (p.Leu726Ter)
c.2153T>A (p.Leu718Ter)
13g.108209129A>CCA388613938LIG4c.1939T>G (p.Leu647Val)
c.2140T>G (p.Leu714Val)
c.2176T>G (p.Leu726Val)
c.2152T>G (p.Leu718Val)
13g.108209129A>GCA484975276LIG4c.1939T>C (p.Leu647=)
c.2140T>C (p.Leu714=)
c.2176T>C (p.Leu726=)
c.2152T>C (p.Leu718=)
13g.108209129A>TCA388613939LIG4c.1939T>A (p.Leu647Met)
c.2140T>A (p.Leu714Met)
c.2176T>A (p.Leu726Met)
c.2152T>A (p.Leu718Met)
13g.108209130A=CA2117794056LIG4c.1938T= (p.Ile646=)
c.2139T= (p.Ile713=)
c.2175T= (p.Ile725=)
c.2151T= (p.Ile717=)
13g.108209130A>CCA388613940LIG4c.1938T>G (p.Ile646Met)
c.2139T>G (p.Ile713Met)
c.2175T>G (p.Ile725Met)
c.2151T>G (p.Ile717Met)
 ClinVar dbSNP gnomAD v4
13g.108209130A>GCA484975280LIG4c.1938T>C (p.Ile646=)
c.2139T>C (p.Ile713=)
c.2175T>C (p.Ile725=)
c.2151T>C (p.Ile717=)
13g.108209130A>TCA484975277LIG4c.1938T>A (p.Ile646=)
c.2139T>A (p.Ile713=)
c.2175T>A (p.Ile725=)
c.2151T>A (p.Ile717=)
13g.108209131A>CCA388613943LIG4c.1937T>G (p.Ile646Ser)
c.2138T>G (p.Ile713Ser)
c.2174T>G (p.Ile725Ser)
c.2150T>G (p.Ile717Ser)
13g.108209131A>GCA388613941LIG4c.1937T>C (p.Ile646Thr)
c.2138T>C (p.Ile713Thr)
c.2174T>C (p.Ile725Thr)
c.2150T>C (p.Ile717Thr)
13g.108209131A>TCA388613942LIG4c.1937T>A (p.Ile646Asn)
c.2138T>A (p.Ile713Asn)
c.2174T>A (p.Ile725Asn)
c.2150T>A (p.Ile717Asn)
13g.108209132T>ACA388613944LIG4c.1936A>T (p.Ile646Phe)
c.2137A>T (p.Ile713Phe)
c.2173A>T (p.Ile725Phe)
c.2149A>T (p.Ile717Phe)
13g.108209132T>CCA388613945LIG4c.1936A>G (p.Ile646Val)
c.2137A>G (p.Ile713Val)
c.2173A>G (p.Ile725Val)
c.2149A>G (p.Ile717Val)
13g.108209132T>GCA388613946LIG4c.1936A>C (p.Ile646Leu)
c.2137A>C (p.Ile713Leu)
c.2173A>C (p.Ile725Leu)
c.2149A>C (p.Ile717Leu)
13g.108209132_108209134delinsTTACA2117794057LIG4c.1934_1936delinsTAA (p.Ile645=)
c.2135_2137delinsTAA (p.Ile712=)
c.2171_2173delinsTAA (p.Ile724=)
c.2147_2149delinsTAA (p.Ile716=)
13g.108209133T>ACA484975287LIG4c.1935A>T (p.Ile645=)
c.2136A>T (p.Ile712=)
c.2172A>T (p.Ile724=)
c.2148A>T (p.Ile716=)
13g.108209133T>CCA388613947LIG4c.1935A>G (p.Ile645Met)
c.2136A>G (p.Ile712Met)
c.2172A>G (p.Ile724Met)
c.2148A>G (p.Ile716Met)
 gnomAD v4
13g.108209133T>GCA484975290LIG4c.1935A>C (p.Ile645=)
c.2136A>C (p.Ile712=)
c.2172A>C (p.Ile724=)
c.2148A>C (p.Ile716=)
13g.108209134_108209135delCA484975291LIG4c.1934_1935del (p.Ile645AsnfsTer5)
c.2135_2136del (p.Ile712AsnfsTer5)
c.2171_2172del (p.Ile724AsnfsTer5)
c.2147_2148del (p.Ile716AsnfsTer5)
 ClinVar dbSNP gnomAD v4
13g.108209134A>CCA388613950LIG4c.1934T>G (p.Ile645Arg)
c.2135T>G (p.Ile712Arg)
c.2171T>G (p.Ile724Arg)
c.2147T>G (p.Ile716Arg)
13g.108209134A>GCA388613948LIG4c.1934T>C (p.Ile645Thr)
c.2135T>C (p.Ile712Thr)
c.2171T>C (p.Ile724Thr)
c.2147T>C (p.Ile716Thr)
 gnomAD v4
13g.108209134A>TCA388613949LIG4c.1934T>A (p.Ile645Lys)
c.2135T>A (p.Ile712Lys)
c.2171T>A (p.Ile724Lys)
c.2147T>A (p.Ile716Lys)
13g.108209135T>ACA388613951LIG4c.1933A>T (p.Ile645Leu)
c.2134A>T (p.Ile712Leu)
c.2170A>T (p.Ile724Leu)
c.2146A>T (p.Ile716Leu)
13g.108209135T>CCA388613952LIG4c.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
13g.108209135T>GCA388613953LIG4c.1933A>C (p.Ile645Leu)
c.2134A>C (p.Ile712Leu)
c.2170A>C (p.Ile724Leu)
c.2146A>C (p.Ile716Leu)
13g.108209135T=CA2117794058LIG4c.1933A= (p.Ile645=)
c.2134A= (p.Ile712=)
c.2170A= (p.Ile724=)
c.2146A= (p.Ile716=)
13g.108209136G>ACA484975294LIG4c.1932C>T (p.Asn644=)
c.2133C>T (p.Asn711=)
c.2169C>T (p.Asn723=)
c.2145C>T (p.Asn715=)
13g.108209136G>CCA388613954LIG4c.1932C>G (p.Asn644Lys)
c.2133C>G (p.Asn711Lys)
c.2169C>G (p.Asn723Lys)
c.2145C>G (p.Asn715Lys)
 dbSNP gnomAD v2 gnomAD v4
13g.108209136G=CA2117794059LIG4c.1932C= (p.Asn644=)
c.2133C= (p.Asn711=)
c.2169C= (p.Asn723=)
c.2145C= (p.Asn715=)
13g.108209136G>TCA388613955LIG4c.1932C>A (p.Asn644Lys)
c.2133C>A (p.Asn711Lys)
c.2169C>A (p.Asn723Lys)
c.2145C>A (p.Asn715Lys)
13g.108209137T>ACA388613956LIG4c.1931A>T (p.Asn644Ile)
c.2132A>T (p.Asn711Ile)
c.2168A>T (p.Asn723Ile)
c.2144A>T (p.Asn715Ile)
13g.108209137T>CCA388613958LIG4c.1931A>G (p.Asn644Ser)
c.2132A>G (p.Asn711Ser)
c.2168A>G (p.Asn723Ser)
c.2144A>G (p.Asn715Ser)
 gnomAD v4
13g.108209137T>GCA388613957LIG4c.1931A>C (p.Asn644Thr)
c.2132A>C (p.Asn711Thr)
c.2168A>C (p.Asn723Thr)
c.2144A>C (p.Asn715Thr)
13g.108209141dupCA2575452313LIG4c.1931dup (p.Asn644LysfsTer7)
c.2132dup (p.Asn711LysfsTer7)
c.2168dup (p.Asn723LysfsTer7)
c.2144dup (p.Asn715LysfsTer7)
13g.108209138T>ACA388613959LIG4c.1930A>T (p.Asn644Tyr)
c.2131A>T (p.Asn711Tyr)
c.2167A>T (p.Asn723Tyr)
c.2143A>T (p.Asn715Tyr)
13g.108209138T>CCA388613960LIG4c.1930A>G (p.Asn644Asp)
c.2131A>G (p.Asn711Asp)
c.2167A>G (p.Asn723Asp)
c.2143A>G (p.Asn715Asp)
13g.108209138T>GCA388613961LIG4c.1930A>C (p.Asn644His)
c.2131A>C (p.Asn711His)
c.2167A>C (p.Asn723His)
c.2143A>C (p.Asn715His)
13g.108209139T>ACA388613962LIG4c.1929A>T (p.Lys643Asn)
c.2130A>T (p.Lys710Asn)
c.2166A>T (p.Lys722Asn)
c.2142A>T (p.Lys714Asn)
13g.108209139T>CCA484975299LIG4c.1929A>G (p.Lys643=)
c.2130A>G (p.Lys710=)
c.2166A>G (p.Lys722=)
c.2142A>G (p.Lys714=)
13g.108209139T>GCA388613963LIG4c.1929A>C (p.Lys643Asn)
c.2130A>C (p.Lys710Asn)
c.2166A>C (p.Lys722Asn)
c.2142A>C (p.Lys714Asn)
13g.108209140T>ACA388613964LIG4c.1928A>T (p.Lys643Ile)
c.2129A>T (p.Lys710Ile)
c.2165A>T (p.Lys722Ile)
c.2141A>T (p.Lys714Ile)
13g.108209140T>CCA388613965LIG4c.1928A>G (p.Lys643Arg)
c.2129A>G (p.Lys710Arg)
c.2165A>G (p.Lys722Arg)
c.2141A>G (p.Lys714Arg)
13g.108209140T>GCA388613966LIG4c.1928A>C (p.Lys643Thr)
c.2129A>C (p.Lys710Thr)
c.2165A>C (p.Lys722Thr)
c.2141A>C (p.Lys714Thr)
 dbSNP gnomAD v2 gnomAD v4
13g.108209140T=CA2117794060LIG4c.1928A= (p.Lys643=)
c.2129A= (p.Lys710=)
c.2165A= (p.Lys722=)
c.2141A= (p.Lys714=)
13g.108209141T>ACA388613967LIG4c.1927A>T (p.Lys643Ter)
c.2128A>T (p.Lys710Ter)
c.2164A>T (p.Lys722Ter)
c.2140A>T (p.Lys714Ter)
13g.108209141T>CCA388613968LIG4c.1927A>G (p.Lys643Glu)
c.2128A>G (p.Lys710Glu)
c.2164A>G (p.Lys722Glu)
c.2140A>G (p.Lys714Glu)
13g.108209141T>GCA388613969LIG4c.1927A>C (p.Lys643Gln)
c.2128A>C (p.Lys710Gln)
c.2164A>C (p.Lys722Gln)
c.2140A>C (p.Lys714Gln)
13g.108209142C>ACA484975302LIG4c.1926G>T (p.Val642=)
c.2127G>T (p.Val709=)
c.2163G>T (p.Val721=)
c.2139G>T (p.Val713=)
13g.108209142C=CA2117794061LIG4c.1926G= (p.Val642=)
c.2127G= (p.Val709=)
c.2163G= (p.Val721=)
c.2139G= (p.Val713=)
13g.108209142C>GCA484975304LIG4c.1926G>C (p.Val642=)
c.2127G>C (p.Val709=)
c.2163G>C (p.Val721=)
c.2139G>C (p.Val713=)
13g.108209142C>TCA484975306LIG4c.1926G>A (p.Val642=)
c.2127G>A (p.Val709=)
c.2163G>A (p.Val721=)
c.2139G>A (p.Val713=)
 dbSNP
13g.108209143A>CCA388613972LIG4c.1925T>G (p.Val642Gly)
c.2126T>G (p.Val709Gly)
c.2162T>G (p.Val721Gly)
c.2138T>G (p.Val713Gly)
13g.108209143A>GCA388613971LIG4c.1925T>C (p.Val642Ala)
c.2126T>C (p.Val709Ala)
c.2162T>C (p.Val721Ala)
c.2138T>C (p.Val713Ala)
13g.108209143A>TCA388613970LIG4c.1925T>A (p.Val642Glu)
c.2126T>A (p.Val709Glu)
c.2162T>A (p.Val721Glu)
c.2138T>A (p.Val713Glu)
13g.108209144C>ACA388613973LIG4c.1924G>T (p.Val642Leu)
c.2125G>T (p.Val709Leu)
c.2161G>T (p.Val721Leu)
c.2137G>T (p.Val713Leu)
13g.108209144C=CA2117794062LIG4c.1924G= (p.Val642=)
c.2125G= (p.Val709=)
c.2161G= (p.Val721=)
c.2137G= (p.Val713=)
13g.108209144C>GCA388613974LIG4c.1924G>C (p.Val642Leu)
c.2125G>C (p.Val709Leu)
c.2161G>C (p.Val721Leu)
c.2137G>C (p.Val713Leu)
13g.108209144C>TCA388613975LIG4c.1924G>A (p.Val642Met)
c.2125G>A (p.Val709Met)
c.2161G>A (p.Val721Met)
c.2137G>A (p.Val713Met)
 dbSNP
13g.108209145T>ACA388613976LIG4c.1923A>T (p.Arg641Ser)
c.2124A>T (p.Arg708Ser)
c.2160A>T (p.Arg720Ser)
c.2136A>T (p.Arg712Ser)
13g.108209145T>CCA484975311LIG4c.1923A>G (p.Arg641=)
c.2124A>G (p.Arg708=)
c.2160A>G (p.Arg720=)
c.2136A>G (p.Arg712=)
13g.108209145T>GCA388613977LIG4c.1923A>C (p.Arg641Ser)
c.2124A>C (p.Arg708Ser)
c.2160A>C (p.Arg720Ser)
c.2136A>C (p.Arg712Ser)
13g.108209146C>ACA388613978LIG4c.1922G>T (p.Arg641Ile)
c.2123G>T (p.Arg708Ile)
c.2159G>T (p.Arg720Ile)
c.2135G>T (p.Arg712Ile)
13g.108209146C=CA2117794063LIG4c.1922G= (p.Arg641=)
c.2123G= (p.Arg708=)
c.2159G= (p.Arg720=)
c.2135G= (p.Arg712=)
13g.108209146C>GCA388613979LIG4c.1922G>C (p.Arg641Thr)
c.2123G>C (p.Arg708Thr)
c.2159G>C (p.Arg720Thr)
c.2135G>C (p.Arg712Thr)
13g.108209146C>TCA388613980LIG4c.1922G>A (p.Arg641Lys)
c.2123G>A (p.Arg708Lys)
c.2159G>A (p.Arg720Lys)
c.2135G>A (p.Arg712Lys)
13g.108209147T>ACA388613982LIG4c.1921A>T (p.Arg641Ter)
c.2122A>T (p.Arg708Ter)
c.2158A>T (p.Arg720Ter)
c.2134A>T (p.Arg712Ter)
13g.108209147T>CCA388613981LIG4c.1921A>G (p.Arg641Gly)
c.2122A>G (p.Arg708Gly)
c.2158A>G (p.Arg720Gly)
c.2134A>G (p.Arg712Gly)
13g.108209147T>GCA484975317LIG4c.1921A>C (p.Arg641=)
c.2122A>C (p.Arg708=)
c.2158A>C (p.Arg720=)
c.2134A>C (p.Arg712=)
13g.108209147dupCA7043556LIG4c.1921dup (p.Arg641LysfsTer10)
c.2122dup (p.Arg708LysfsTer10)
c.2158dup (p.Arg720LysfsTer10)
c.2134dup (p.Arg712LysfsTer10)
 dbSNP ExAC gnomAD v2
13g.108209148G>ACA484975319LIG4c.1920C>T (p.Ile640=)
c.2121C>T (p.Ile707=)
c.2157C>T (p.Ile719=)
c.2133C>T (p.Ile711=)
13g.108209148G>CCA388613983LIG4c.1920C>G (p.Ile640Met)
c.2121C>G (p.Ile707Met)
c.2157C>G (p.Ile719Met)
c.2133C>G (p.Ile711Met)
13g.108209148G>TCA484975320LIG4c.1920C>A (p.Ile640=)
c.2121C>A (p.Ile707=)
c.2157C>A (p.Ile719=)
c.2133C>A (p.Ile711=)
13g.108209149A>CCA388613984LIG4c.1919T>G (p.Ile640Ser)
c.2120T>G (p.Ile707Ser)
c.2156T>G (p.Ile719Ser)
c.2132T>G (p.Ile711Ser)
13g.108209149A>GCA388613985LIG4c.1919T>C (p.Ile640Thr)
c.2120T>C (p.Ile707Thr)
c.2156T>C (p.Ile719Thr)
c.2132T>C (p.Ile711Thr)
13g.108209149A>TCA388613986LIG4c.1919T>A (p.Ile640Asn)
c.2120T>A (p.Ile707Asn)
c.2156T>A (p.Ile719Asn)
c.2132T>A (p.Ile711Asn)
13g.108209150T>ACA7043557LIG4c.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
13g.108209150T>CCA388613987LIG4c.1918A>G (p.Ile640Val)
c.2119A>G (p.Ile707Val)
c.2155A>G (p.Ile719Val)
c.2131A>G (p.Ile711Val)
 gnomAD v4
13g.108209150T>GCA388613988LIG4c.1918A>C (p.Ile640Leu)
c.2119A>C (p.Ile707Leu)
c.2155A>C (p.Ile719Leu)
c.2131A>C (p.Ile711Leu)
13g.108209150T=CA2117794064LIG4c.1918A= (p.Ile640=)
c.2119A= (p.Ile707=)
c.2155A= (p.Ile719=)
c.2131A= (p.Ile711=)
13g.108209151G>ACA484975328LIG4c.1917C>T (p.Asn639=)
c.2118C>T (p.Asn706=)
c.2154C>T (p.Asn718=)
c.2130C>T (p.Asn710=)
 ClinVar
13g.108209151G>CCA388613989LIG4c.1917C>G (p.Asn639Lys)
c.2118C>G (p.Asn706Lys)
c.2154C>G (p.Asn718Lys)
c.2130C>G (p.Asn710Lys)
13g.108209151G>TCA388613990LIG4c.1917C>A (p.Asn639Lys)
c.2118C>A (p.Asn706Lys)
c.2154C>A (p.Asn718Lys)
c.2130C>A (p.Asn710Lys)
13g.108209152T>ACA388613991LIG4c.1916A>T (p.Asn639Ile)
c.2117A>T (p.Asn706Ile)
c.2153A>T (p.Asn718Ile)
c.2129A>T (p.Asn710Ile)
13g.108209152T>CCA388613992LIG4c.1916A>G (p.Asn639Ser)
c.2117A>G (p.Asn706Ser)
c.2153A>G (p.Asn718Ser)
c.2129A>G (p.Asn710Ser)
13g.108209152T>GCA388613993LIG4c.1916A>C (p.Asn639Thr)
c.2117A>C (p.Asn706Thr)
c.2153A>C (p.Asn718Thr)
c.2129A>C (p.Asn710Thr)
13g.108209153T>ACA388613994LIG4c.1915A>T (p.Asn639Tyr)
c.2116A>T (p.Asn706Tyr)
c.2152A>T (p.Asn718Tyr)
c.2128A>T (p.Asn710Tyr)
13g.108209153T>CCA388613995LIG4c.1915A>G (p.Asn639Asp)
c.2116A>G (p.Asn706Asp)
c.2152A>G (p.Asn718Asp)
c.2128A>G (p.Asn710Asp)
13g.108209153T>GCA388613996LIG4c.1915A>C (p.Asn639His)
c.2116A>C (p.Asn706His)
c.2152A>C (p.Asn718His)
c.2128A>C (p.Asn710His)
13g.108209154C>ACA388613997LIG4c.1914G>T (p.Glu638Asp)
c.2115G>T (p.Glu705Asp)
c.2151G>T (p.Glu717Asp)
c.2127G>T (p.Glu709Asp)
13g.108209154C>GCA388613998LIG4c.1914G>C (p.Glu638Asp)
c.2115G>C (p.Glu705Asp)
c.2151G>C (p.Glu717Asp)
c.2127G>C (p.Glu709Asp)
13g.108209154C>TCA484975333LIG4c.1914G>A (p.Glu638=)
c.2115G>A (p.Glu705=)
c.2151G>A (p.Glu717=)
c.2127G>A (p.Glu709=)
13g.108209155T>ACA388613999LIG4c.1913A>T (p.Glu638Val)
c.2114A>T (p.Glu705Val)
c.2150A>T (p.Glu717Val)
c.2126A>T (p.Glu709Val)
13g.108209155T>CCA388614000LIG4c.1913A>G (p.Glu638Gly)
c.2114A>G (p.Glu705Gly)
c.2150A>G (p.Glu717Gly)
c.2126A>G (p.Glu709Gly)
13g.108209155T>GCA388614001LIG4c.1913A>C (p.Glu638Ala)
c.2114A>C (p.Glu705Ala)
c.2150A>C (p.Glu717Ala)
c.2126A>C (p.Glu709Ala)
13g.108209156C>ACA388614002LIG4c.1912G>T (p.Glu638Ter)
c.2113G>T (p.Glu705Ter)
c.2149G>T (p.Glu717Ter)
c.2125G>T (p.Glu709Ter)
13g.108209156C=CA2117794065LIG4c.1912G= (p.Glu638=)
c.2113G= (p.Glu705=)
c.2149G= (p.Glu717=)
c.2125G= (p.Glu709=)
13g.108209156C>GCA388614004LIG4c.1912G>C (p.Glu638Gln)
c.2113G>C (p.Glu705Gln)
c.2149G>C (p.Glu717Gln)
c.2125G>C (p.Glu709Gln)
13g.108209156C>TCA388614003LIG4c.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
13g.108209157A>CCA484975335LIG4c.1911T>G (p.Ser637=)
c.2112T>G (p.Ser704=)
c.2148T>G (p.Ser716=)
c.2124T>G (p.Ser708=)
13g.108209157A>GCA484975337LIG4c.1911T>C (p.Ser637=)
c.2112T>C (p.Ser704=)
c.2148T>C (p.Ser716=)
c.2124T>C (p.Ser708=)
 gnomAD v4
13g.108209157A>TCA484975338LIG4c.1911T>A (p.Ser637=)
c.2112T>A (p.Ser704=)
c.2148T>A (p.Ser716=)
c.2124T>A (p.Ser708=)
13g.108209158G>ACA388614005LIG4c.1910C>T (p.Ser637Phe)
c.2111C>T (p.Ser704Phe)
c.2147C>T (p.Ser716Phe)
c.2123C>T (p.Ser708Phe)
13g.108209158G>CCA388614006LIG4c.1910C>G (p.Ser637Cys)
c.2111C>G (p.Ser704Cys)
c.2147C>G (p.Ser716Cys)
c.2123C>G (p.Ser708Cys)
13g.108209158G>TCA388614007LIG4c.1910C>A (p.Ser637Tyr)
c.2111C>A (p.Ser704Tyr)
c.2147C>A (p.Ser716Tyr)
c.2123C>A (p.Ser708Tyr)
13g.108209159A=CA2117794066LIG4c.1909T= (p.Ser637=)
c.2110T= (p.Ser704=)
c.2146T= (p.Ser716=)
c.2122T= (p.Ser708=)
13g.108209159A>CCA388614008LIG4c.1909T>G (p.Ser637Ala)
c.2110T>G (p.Ser704Ala)
c.2146T>G (p.Ser716Ala)
c.2122T>G (p.Ser708Ala)
13g.108209159A>GCA7043558LIG4c.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
13g.108209159A>TCA388614009LIG4c.1909T>A (p.Ser637Thr)
c.2110T>A (p.Ser704Thr)
c.2146T>A (p.Ser716Thr)
c.2122T>A (p.Ser708Thr)
13g.108209160C>ACA484975344LIG4c.1908G>T (p.Gly636=)
c.2109G>T (p.Gly703=)
c.2145G>T (p.Gly715=)
c.2121G>T (p.Gly707=)
13g.108209160C>GCA484975348LIG4c.1908G>C (p.Gly636=)
c.2109G>C (p.Gly703=)
c.2145G>C (p.Gly715=)
c.2121G>C (p.Gly707=)
13g.108209160C>TCA484975349LIG4c.1908G>A (p.Gly636=)
c.2109G>A (p.Gly703=)
c.2145G>A (p.Gly715=)
c.2121G>A (p.Gly707=)
13g.108209161C>ACA388614010LIG4c.1907G>T (p.Gly636Val)
c.2108G>T (p.Gly703Val)
c.2144G>T (p.Gly715Val)
c.2120G>T (p.Gly707Val)
13g.108209161C>GCA388614011LIG4c.1907G>C (p.Gly636Ala)
c.2108G>C (p.Gly703Ala)
c.2144G>C (p.Gly715Ala)
c.2120G>C (p.Gly707Ala)
13g.108209161C>TCA388614012LIG4c.1907G>A (p.Gly636Glu)
c.2108G>A (p.Gly703Glu)
c.2144G>A (p.Gly715Glu)
c.2120G>A (p.Gly707Glu)
13g.108209162C>ACA388614013LIG4c.1906G>T (p.Gly636Trp)
c.2107G>T (p.Gly703Trp)
c.2143G>T (p.Gly715Trp)
c.2119G>T (p.Gly707Trp)
13g.108209162C>GCA388614014LIG4c.1906G>C (p.Gly636Arg)
c.2107G>C (p.Gly703Arg)
c.2143G>C (p.Gly715Arg)
c.2119G>C (p.Gly707Arg)
 gnomAD v4
13g.108209162C>TCA388614015LIG4c.1906G>A (p.Gly636Arg)
c.2107G>A (p.Gly703Arg)
c.2143G>A (p.Gly715Arg)
c.2119G>A (p.Gly707Arg)
13g.108209163T>ACA484975351LIG4c.1905A>T (p.Ala635=)
c.2106A>T (p.Ala702=)
c.2142A>T (p.Ala714=)
c.2118A>T (p.Ala706=)
13g.108209163T>CCA484975353LIG4c.1905A>G (p.Ala635=)
c.2106A>G (p.Ala702=)
c.2142A>G (p.Ala714=)
c.2118A>G (p.Ala706=)
13g.108209163T>GCA484975352LIG4c.1905A>C (p.Ala635=)
c.2106A>C (p.Ala702=)
c.2142A>C (p.Ala714=)
c.2118A>C (p.Ala706=)
13g.108209164G>ACA388614017LIG4c.1904C>T (p.Ala635Val)
c.2105C>T (p.Ala702Val)
c.2141C>T (p.Ala714Val)
c.2117C>T (p.Ala706Val)
 gnomAD v4
13g.108209164G>CCA388614018LIG4c.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
13g.108209164G=CA2117794067LIG4c.1904C= (p.Ala635=)
c.2105C= (p.Ala702=)
c.2141C= (p.Ala714=)
c.2117C= (p.Ala706=)
13g.108209164G>TCA388614016LIG4c.1904C>A (p.Ala635Glu)
c.2105C>A (p.Ala702Glu)
c.2141C>A (p.Ala714Glu)
c.2117C>A (p.Ala706Glu)
13g.108209165C>ACA388614019LIG4c.1903G>T (p.Ala635Ser)
c.2104G>T (p.Ala702Ser)
c.2140G>T (p.Ala714Ser)
c.2116G>T (p.Ala706Ser)
13g.108209165C>GCA388614021LIG4c.1903G>C (p.Ala635Pro)
c.2104G>C (p.Ala702Pro)
c.2140G>C (p.Ala714Pro)
c.2116G>C (p.Ala706Pro)
13g.108209165C>TCA388614022LIG4c.1903G>A (p.Ala635Thr)
c.2104G>A (p.Ala702Thr)
c.2140G>A (p.Ala714Thr)
c.2116G>A (p.Ala706Thr)
13g.108209166A=CA2117794068LIG4c.1902T= (p.Ile634=)
c.2103T= (p.Ile701=)
c.2139T= (p.Ile713=)
c.2115T= (p.Ile705=)
13g.108209166A>CCA388614024LIG4c.1902T>G (p.Ile634Met)
c.2103T>G (p.Ile701Met)
c.2139T>G (p.Ile713Met)
c.2115T>G (p.Ile705Met)
13g.108209166A>GCA484975361LIG4c.1902T>C (p.Ile634=)
c.2103T>C (p.Ile701=)
c.2139T>C (p.Ile713=)
c.2115T>C (p.Ile705=)
 dbSNP gnomAD v2 gnomAD v4
13g.108209166A>TCA484975362LIG4c.1902T>A (p.Ile634=)
c.2103T>A (p.Ile701=)
c.2139T>A (p.Ile713=)
c.2115T>A (p.Ile705=)
13g.108209167A=CA2117794069LIG4c.1901T= (p.Ile634=)
c.2102T= (p.Ile701=)
c.2138T= (p.Ile713=)
c.2114T= (p.Ile705=)
13g.108209167A>CCA388614030LIG4c.1901T>G (p.Ile634Ser)
c.2102T>G (p.Ile701Ser)
c.2138T>G (p.Ile713Ser)
c.2114T>G (p.Ile705Ser)
13g.108209167A>GCA388614028LIG4c.1901T>C (p.Ile634Thr)
c.2102T>C (p.Ile701Thr)
c.2138T>C (p.Ile713Thr)
c.2114T>C (p.Ile705Thr)
 dbSNP gnomAD v2 gnomAD v4
13g.108209167A>TCA388614026LIG4c.1901T>A (p.Ile634Asn)
c.2102T>A (p.Ile701Asn)
c.2138T>A (p.Ile713Asn)
c.2114T>A (p.Ile705Asn)
13g.108209168T>ACA388614032LIG4c.1900A>T (p.Ile634Phe)
c.2101A>T (p.Ile701Phe)
c.2137A>T (p.Ile713Phe)
c.2113A>T (p.Ile705Phe)
13g.108209168T>CCA388614034LIG4c.1900A>G (p.Ile634Val)
c.2101A>G (p.Ile701Val)
c.2137A>G (p.Ile713Val)
c.2113A>G (p.Ile705Val)
 gnomAD v4
13g.108209168T>GCA388614036LIG4c.1900A>C (p.Ile634Leu)
c.2101A>C (p.Ile701Leu)
c.2137A>C (p.Ile713Leu)
c.2113A>C (p.Ile705Leu)
 dbSNP
13g.108209168T=CA2117794070LIG4c.1900A= (p.Ile634=)
c.2101A= (p.Ile701=)
c.2137A= (p.Ile713=)
c.2113A= (p.Ile705=)
13g.108209168_108209175delinsTTACACAGCA2117794071LIG4c.1893_1900delinsCTGTGTAA (p.Tyr631=)
c.2094_2101delinsCTGTGTAA (p.Tyr698=)
c.2130_2137delinsCTGTGTAA (p.Tyr710=)
c.2106_2113delinsCTGTGTAA (p.Tyr702=)
13g.108209169T>ACA484975363LIG4c.1899A>T (p.Val633=)
c.2100A>T (p.Val700=)
c.2136A>T (p.Val712=)
c.2112A>T (p.Val704=)
13g.108209169T>CCA484975366LIG4c.1899A>G (p.Val633=)
c.2100A>G (p.Val700=)
c.2136A>G (p.Val712=)
c.2112A>G (p.Val704=)
13g.108209169T>GCA484975368LIG4c.1899A>C (p.Val633=)
c.2100A>C (p.Val700=)
c.2136A>C (p.Val712=)
c.2112A>C (p.Val704=)
13g.108209172_108209178delCA694834317LIG4c.1893_1899del (p.Tyr631Ter)
c.2094_2100del (p.Tyr698Ter)
c.2130_2136del (p.Tyr710Ter)
c.2106_2112del (p.Tyr702Ter)
 dbSNP gnomAD v3 gnomAD v4
13g.108209170A>CCA388614038LIG4c.1898T>G (p.Val633Gly)
c.2099T>G (p.Val700Gly)
c.2135T>G (p.Val712Gly)
c.2111T>G (p.Val704Gly)
13g.108209170A>GCA388614040LIG4c.1898T>C (p.Val633Ala)
c.2099T>C (p.Val700Ala)
c.2135T>C (p.Val712Ala)
c.2111T>C (p.Val704Ala)
13g.108209170A>TCA388614042LIG4c.1898T>A (p.Val633Glu)
c.2099T>A (p.Val700Glu)
c.2135T>A (p.Val712Glu)
c.2111T>A (p.Val704Glu)
13g.108209170dupCA2623644101LIG4c.1898dup (p.Ile634AsnfsTer5)
c.2099dup (p.Ile701AsnfsTer5)
c.2135dup (p.Ile713AsnfsTer5)
c.2111dup (p.Ile705AsnfsTer5)
 gnomAD v4
13g.108209171C>ACA388614045LIG4c.1897G>T (p.Val633Leu)
c.2098G>T (p.Val700Leu)
c.2134G>T (p.Val712Leu)
c.2110G>T (p.Val704Leu)
13g.108209171C=CA2117794072LIG4c.1897G= (p.Val633=)
c.2098G= (p.Val700=)
c.2134G= (p.Val712=)
c.2110G= (p.Val704=)
13g.108209171C>GCA388614048LIG4c.1897G>C (p.Val633Leu)
c.2098G>C (p.Val700Leu)
c.2134G>C (p.Val712Leu)
c.2110G>C (p.Val704Leu)
13g.108209171C>TCA388614047LIG4c.1897G>A (p.Val633Ile)
c.2098G>A (p.Val700Ile)
c.2134G>A (p.Val712Ile)
c.2110G>A (p.Val704Ile)
 dbSNP gnomAD v3 gnomAD v4
13g.108209172A>CCA388614050LIG4c.1896T>G (p.Cys632Trp)
c.2097T>G (p.Cys699Trp)
c.2133T>G (p.Cys711Trp)
c.2109T>G (p.Cys703Trp)
13g.108209172A>GCA484975373LIG4c.1896T>C (p.Cys632=)
c.2097T>C (p.Cys699=)
c.2133T>C (p.Cys711=)
c.2109T>C (p.Cys703=)
13g.108209172A>TCA388614052LIG4c.1896T>A (p.Cys632Ter)
c.2097T>A (p.Cys699Ter)
c.2133T>A (p.Cys711Ter)
c.2109T>A (p.Cys703Ter)
13g.108209173C>ACA256180034LIG4c.1895G>T (p.Cys632Phe)
c.2096G>T (p.Cys699Phe)
c.2132G>T (p.Cys711Phe)
c.2108G>T (p.Cys703Phe)
 dbSNP
13g.108209173C=CA2117794073LIG4c.1895G= (p.Cys632=)
c.2096G= (p.Cys699=)
c.2132G= (p.Cys711=)
c.2108G= (p.Cys703=)
13g.108209173C>GCA388614054LIG4c.1895G>C (p.Cys632Ser)
c.2096G>C (p.Cys699Ser)
c.2132G>C (p.Cys711Ser)
c.2108G>C (p.Cys703Ser)
13g.108209173C>TCA388614055LIG4c.1895G>A (p.Cys632Tyr)
c.2096G>A (p.Cys699Tyr)
c.2132G>A (p.Cys711Tyr)
c.2108G>A (p.Cys703Tyr)
13g.108209174A=CA2117794074LIG4c.1894T= (p.Cys632=)
c.2095T= (p.Cys699=)
c.2131T= (p.Cys711=)
c.2107T= (p.Cys703=)
13g.108209174A>CCA388614056LIG4c.1894T>G (p.Cys632Gly)
c.2095T>G (p.Cys699Gly)
c.2131T>G (p.Cys711Gly)
c.2107T>G (p.Cys703Gly)
13g.108209174A>GCA388614058LIG4c.1894T>C (p.Cys632Arg)
c.2095T>C (p.Cys699Arg)
c.2131T>C (p.Cys711Arg)
c.2107T>C (p.Cys703Arg)
 dbSNP
13g.108209174A>TCA388614059LIG4c.1894T>A (p.Cys632Ser)
c.2095T>A (p.Cys699Ser)
c.2131T>A (p.Cys711Ser)
c.2107T>A (p.Cys703Ser)
13g.108209175G>ACA484975382LIG4c.1893C>T (p.Tyr631=)
c.2094C>T (p.Tyr698=)
c.2130C>T (p.Tyr710=)
c.2106C>T (p.Tyr702=)
13g.108209175G>CCA7043559LIG4c.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
13g.108209175G=CA2117794075LIG4c.1893C= (p.Tyr631=)
c.2094C= (p.Tyr698=)
c.2130C= (p.Tyr710=)
c.2106C= (p.Tyr702=)
13g.108209175G>TCA388614063LIG4c.1893C>A (p.Tyr631Ter)
c.2094C>A (p.Tyr698Ter)
c.2130C>A (p.Tyr710Ter)
c.2106C>A (p.Tyr702Ter)
13g.108209176T>ACA388614064LIG4c.1892A>T (p.Tyr631Phe)
c.2093A>T (p.Tyr698Phe)
c.2129A>T (p.Tyr710Phe)
c.2105A>T (p.Tyr702Phe)
13g.108209176T>CCA388614066LIG4c.1892A>G (p.Tyr631Cys)
c.2093A>G (p.Tyr698Cys)
c.2129A>G (p.Tyr710Cys)
c.2105A>G (p.Tyr702Cys)
 gnomAD v4
13g.108209176T>GCA388614067LIG4c.1892A>C (p.Tyr631Ser)
c.2093A>C (p.Tyr698Ser)
c.2129A>C (p.Tyr710Ser)
c.2105A>C (p.Tyr702Ser)
13g.108209177A>CCA388614071LIG4c.1891T>G (p.Tyr631Asp)
c.2092T>G (p.Tyr698Asp)
c.2128T>G (p.Tyr710Asp)
c.2104T>G (p.Tyr702Asp)
 gnomAD v4
13g.108209177A>GCA388614069LIG4c.1891T>C (p.Tyr631His)
c.2092T>C (p.Tyr698His)
c.2128T>C (p.Tyr710His)
c.2104T>C (p.Tyr702His)
13g.108209177A>TCA388614068LIG4c.1891T>A (p.Tyr631Asn)
c.2092T>A (p.Tyr698Asn)
c.2128T>A (p.Tyr710Asn)
c.2104T>A (p.Tyr702Asn)
13g.108209178C>ACA484975391LIG4c.1890G>T (p.Thr630=)
c.2091G>T (p.Thr697=)
c.2127G>T (p.Thr709=)
c.2103G>T (p.Thr701=)
 gnomAD v4
13g.108209178C=CA2117794076LIG4c.1890G= (p.Thr630=)
c.2091G= (p.Thr697=)
c.2127G= (p.Thr709=)
c.2103G= (p.Thr701=)
13g.108209178C>GCA484975393LIG4c.1890G>C (p.Thr630=)
c.2091G>C (p.Thr697=)
c.2127G>C (p.Thr709=)
c.2103G>C (p.Thr701=)
 gnomAD v4
13g.108209178C>TCA7043560LIG4c.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
13g.108209179G>ACA388614074LIG4c.1889C>T (p.Thr630Met)
c.2090C>T (p.Thr697Met)
c.2126C>T (p.Thr709Met)
c.2102C>T (p.Thr701Met)
 gnomAD v4 COSMIC
13g.108209179G>CCA388614075LIG4c.1889C>G (p.Thr630Arg)
c.2090C>G (p.Thr697Arg)
c.2126C>G (p.Thr709Arg)
c.2102C>G (p.Thr701Arg)
13g.108209179G>TCA388614077LIG4c.1889C>A (p.Thr630Lys)
c.2090C>A (p.Thr697Lys)
c.2126C>A (p.Thr709Lys)
c.2102C>A (p.Thr701Lys)
13g.108209180T>ACA388614078LIG4c.1888A>T (p.Thr630Ser)
c.2089A>T (p.Thr697Ser)
c.2125A>T (p.Thr709Ser)
c.2101A>T (p.Thr701Ser)
13g.108209180T>CCA388614080LIG4c.1888A>G (p.Thr630Ala)
c.2089A>G (p.Thr697Ala)
c.2125A>G (p.Thr709Ala)
c.2101A>G (p.Thr701Ala)
13g.108209180T>GCA388614081LIG4c.1888A>C (p.Thr630Pro)
c.2089A>C (p.Thr697Pro)
c.2125A>C (p.Thr709Pro)
c.2101A>C (p.Thr701Pro)
13g.108209181G>ACA484975398LIG4c.1887C>T (p.Asp629=)
c.2088C>T (p.Asp696=)
c.2124C>T (p.Asp708=)
c.2100C>T (p.Asp700=)
13g.108209181G>CCA388614084LIG4c.1887C>G (p.Asp629Glu)
c.2088C>G (p.Asp696Glu)
c.2124C>G (p.Asp708Glu)
c.2100C>G (p.Asp700Glu)
13g.108209181G>TCA388614085LIG4c.1887C>A (p.Asp629Glu)
c.2088C>A (p.Asp696Glu)
c.2124C>A (p.Asp708Glu)
c.2100C>A (p.Asp700Glu)
13g.108209182T>ACA388614087LIG4c.1886A>T (p.Asp629Val)
c.2087A>T (p.Asp696Val)
c.2123A>T (p.Asp708Val)
c.2099A>T (p.Asp700Val)
13g.108209182T>CCA7043561LIG4c.1886A>G (p.Asp629Gly)
c.2087A>G (p.Asp696Gly)
c.2123A>G (p.Asp708Gly)
c.2099A>G (p.Asp700Gly)
 dbSNP ExAC gnomAD v2
13g.108209182T>GCA388614090LIG4c.1886A>C (p.Asp629Ala)
c.2087A>C (p.Asp696Ala)
c.2123A>C (p.Asp708Ala)
c.2099A>C (p.Asp700Ala)
13g.108209182T=CA2117794077LIG4c.1886A= (p.Asp629=)
c.2087A= (p.Asp696=)
c.2123A= (p.Asp708=)
c.2099A= (p.Asp700=)
13g.108209183C>ACA388614095LIG4c.1885G>T (p.Asp629Tyr)
c.2086G>T (p.Asp696Tyr)
c.2122G>T (p.Asp708Tyr)
c.2098G>T (p.Asp700Tyr)
13g.108209183C>GCA388614097LIG4c.1885G>C (p.Asp629His)
c.2086G>C (p.Asp696His)
c.2122G>C (p.Asp708His)
c.2098G>C (p.Asp700His)
 COSMIC
13g.108209183C>TCA388614093LIG4c.1885G>A (p.Asp629Asn)
c.2086G>A (p.Asp696Asn)
c.2122G>A (p.Asp708Asn)
c.2098G>A (p.Asp700Asn)
13g.108209184T>ACA484975404LIG4c.1884A>T (p.Pro628=)
c.2085A>T (p.Pro695=)
c.2121A>T (p.Pro707=)
c.2097A>T (p.Pro699=)
13g.108209184T>CCA484975405LIG4c.1884A>G (p.Pro628=)
c.2085A>G (p.Pro695=)
c.2121A>G (p.Pro707=)
c.2097A>G (p.Pro699=)
13g.108209184T>GCA484975406LIG4c.1884A>C (p.Pro628=)
c.2085A>C (p.Pro695=)
c.2121A>C (p.Pro707=)
c.2097A>C (p.Pro699=)
13g.108209184_108209185delinsTGCA2117794078LIG4c.1883_1884delinsCA (p.Pro628=)
c.2084_2085delinsCA (p.Pro695=)
c.2120_2121delinsCA (p.Pro707=)
c.2096_2097delinsCA (p.Pro699=)
13g.108209185G>ACA388614098LIG4c.1883C>T (p.Pro628Leu)
c.2084C>T (p.Pro695Leu)
c.2120C>T (p.Pro707Leu)
c.2096C>T (p.Pro699Leu)
13g.108209185G>CCA388614099LIG4c.1883C>G (p.Pro628Arg)
c.2084C>G (p.Pro695Arg)
c.2120C>G (p.Pro707Arg)
c.2096C>G (p.Pro699Arg)
13g.108209185G>TCA388614100LIG4c.1883C>A (p.Pro628Gln)
c.2084C>A (p.Pro695Gln)
c.2120C>A (p.Pro707Gln)
c.2096C>A (p.Pro699Gln)
13g.108209187delCA612360450LIG4c.1883del (p.Pro628GlnfsTer6)
c.2084del (p.Pro695GlnfsTer6)
c.2120del (p.Pro707GlnfsTer6)
c.2096del (p.Pro699GlnfsTer6)
 dbSNP gnomAD v2 gnomAD v4
13g.108209186G>ACA388614101LIG4c.1882C>T (p.Pro628Ser)
c.2083C>T (p.Pro695Ser)
c.2119C>T (p.Pro707Ser)
c.2095C>T (p.Pro699Ser)
13g.108209186G>CCA388614102LIG4c.1882C>G (p.Pro628Ala)
c.2083C>G (p.Pro695Ala)
c.2119C>G (p.Pro707Ala)
c.2095C>G (p.Pro699Ala)
13g.108209186G>TCA388614103LIG4c.1882C>A (p.Pro628Thr)
c.2083C>A (p.Pro695Thr)
c.2119C>A (p.Pro707Thr)
c.2095C>A (p.Pro699Thr)
13g.108209187G>ACA484975411LIG4c.1881C>T (p.Gly627=)
c.2082C>T (p.Gly694=)
c.2118C>T (p.Gly706=)
c.2094C>T (p.Gly698=)
 dbSNP gnomAD v2 gnomAD v4
13g.108209187G>CCA484975412LIG4c.1881C>G (p.Gly627=)
c.2082C>G (p.Gly694=)
c.2118C>G (p.Gly706=)
c.2094C>G (p.Gly698=)
13g.108209187G=CA2117794079LIG4c.1881C= (p.Gly627=)
c.2082C= (p.Gly694=)
c.2118C= (p.Gly706=)
c.2094C= (p.Gly698=)
13g.108209187G>TCA484975413LIG4c.1881C>A (p.Gly627=)
c.2082C>A (p.Gly694=)
c.2118C>A (p.Gly706=)
c.2094C>A (p.Gly698=)
13g.108209188C>ACA388614104LIG4c.1880G>T (p.Gly627Val)
c.2081G>T (p.Gly694Val)
c.2117G>T (p.Gly706Val)
c.2093G>T (p.Gly698Val)
13g.108209188C>GCA388614106LIG4c.1880G>C (p.Gly627Ala)
c.2081G>C (p.Gly694Ala)
c.2117G>C (p.Gly706Ala)
c.2093G>C (p.Gly698Ala)
13g.108209188C>TCA388614107LIG4c.1880G>A (p.Gly627Asp)
c.2081G>A (p.Gly694Asp)
c.2117G>A (p.Gly706Asp)
c.2093G>A (p.Gly698Asp)
13g.108209189C>ACA388614109LIG4c.1879G>T (p.Gly627Cys)
c.2080G>T (p.Gly694Cys)
c.2116G>T (p.Gly706Cys)
c.2092G>T (p.Gly698Cys)
13g.108209189C>GCA388614110LIG4c.1879G>C (p.Gly627Arg)
c.2080G>C (p.Gly694Arg)
c.2116G>C (p.Gly706Arg)
c.2092G>C (p.Gly698Arg)
13g.108209189C>TCA388614112LIG4c.1879G>A (p.Gly627Ser)
c.2080G>A (p.Gly694Ser)
c.2116G>A (p.Gly706Ser)
c.2092G>A (p.Gly698Ser)
13g.108209190T>ACA484975420LIG4c.1878A>T (p.Pro626=)
c.2079A>T (p.Pro693=)
c.2115A>T (p.Pro705=)
c.2091A>T (p.Pro697=)
13g.108209190T>CCA484975423LIG4c.1878A>G (p.Pro626=)
c.2079A>G (p.Pro693=)
c.2115A>G (p.Pro705=)
c.2091A>G (p.Pro697=)
13g.108209190T>GCA484975424LIG4c.1878A>C (p.Pro626=)
c.2079A>C (p.Pro693=)
c.2115A>C (p.Pro705=)
c.2091A>C (p.Pro697=)
13g.108209191G>ACA256180099LIG4c.1877C>T (p.Pro626Leu)
c.2078C>T (p.Pro693Leu)
c.2114C>T (p.Pro705Leu)
c.2090C>T (p.Pro697Leu)
 dbSNP
13g.108209191G>CCA388614116LIG4c.1877C>G (p.Pro626Arg)
c.2078C>G (p.Pro693Arg)
c.2114C>G (p.Pro705Arg)
c.2090C>G (p.Pro697Arg)
13g.108209191G=CA2117794080LIG4c.1877C= (p.Pro626=)
c.2078C= (p.Pro693=)
c.2114C= (p.Pro705=)
c.2090C= (p.Pro697=)
13g.108209191G>TCA388614114LIG4c.1877C>A (p.Pro626Gln)
c.2078C>A (p.Pro693Gln)
c.2114C>A (p.Pro705Gln)
c.2090C>A (p.Pro697Gln)
13g.108209192G>ACA388614118LIG4c.1876C>T (p.Pro626Ser)
c.2077C>T (p.Pro693Ser)
c.2113C>T (p.Pro705Ser)
c.2089C>T (p.Pro697Ser)
 dbSNP gnomAD v2 gnomAD v4
13g.108209192G>CCA388614119LIG4c.1876C>G (p.Pro626Ala)
c.2077C>G (p.Pro693Ala)
c.2113C>G (p.Pro705Ala)
c.2089C>G (p.Pro697Ala)
 gnomAD v4
13g.108209192G=CA2117794081LIG4c.1876C= (p.Pro626=)
c.2077C= (p.Pro693=)
c.2113C= (p.Pro705=)
c.2089C= (p.Pro697=)
13g.108209192G>TCA388614120LIG4c.1876C>A (p.Pro626Thr)
c.2077C>A (p.Pro693Thr)
c.2113C>A (p.Pro705Thr)
c.2089C>A (p.Pro697Thr)
13g.108209193A>CCA388614121LIG4c.1875T>G (p.Asn625Lys)
c.2076T>G (p.Asn692Lys)
c.2112T>G (p.Asn704Lys)
c.2088T>G (p.Asn696Lys)
13g.108209193A>GCA484975428LIG4c.1875T>C (p.Asn625=)
c.2076T>C (p.Asn692=)
c.2112T>C (p.Asn704=)
c.2088T>C (p.Asn696=)
13g.108209193A>TCA388614122LIG4c.1875T>A (p.Asn625Lys)
c.2076T>A (p.Asn692Lys)
c.2112T>A (p.Asn704Lys)
c.2088T>A (p.Asn696Lys)
13g.108209194T>ACA388614125LIG4c.1874A>T (p.Asn625Ile)
c.2075A>T (p.Asn692Ile)
c.2111A>T (p.Asn704Ile)
c.2087A>T (p.Asn696Ile)
13g.108209194T>CCA388614123LIG4c.1874A>G (p.Asn625Ser)
c.2075A>G (p.Asn692Ser)
c.2111A>G (p.Asn704Ser)
c.2087A>G (p.Asn696Ser)
13g.108209194T>GCA388614124LIG4c.1874A>C (p.Asn625Thr)
c.2075A>C (p.Asn692Thr)
c.2111A>C (p.Asn704Thr)
c.2087A>C (p.Asn696Thr)
13g.108209195T>ACA388614128LIG4c.1873A>T (p.Asn625Tyr)
c.2074A>T (p.Asn692Tyr)
c.2110A>T (p.Asn704Tyr)
c.2086A>T (p.Asn696Tyr)
13g.108209195T>CCA388614130LIG4c.1873A>G (p.Asn625Asp)
c.2074A>G (p.Asn692Asp)
c.2110A>G (p.Asn704Asp)
c.2086A>G (p.Asn696Asp)
13g.108209195T>GCA388614132LIG4c.1873A>C (p.Asn625His)
c.2074A>C (p.Asn692His)
c.2110A>C (p.Asn704His)
c.2086A>C (p.Asn696His)
13g.108209196T>ACA388614136LIG4c.1872A>T (p.Gln624His)
c.2073A>T (p.Gln691His)
c.2109A>T (p.Gln703His)
c.2085A>T (p.Gln695His)
13g.108209196T>CCA484975432LIG4c.1872A>G (p.Gln624=)
c.2073A>G (p.Gln691=)
c.2109A>G (p.Gln703=)
c.2085A>G (p.Gln695=)
13g.108209196T>GCA388614139LIG4c.1872A>C (p.Gln624His)
c.2073A>C (p.Gln691His)
c.2109A>C (p.Gln703His)
c.2085A>C (p.Gln695His)
13g.108209197T>ACA388614144LIG4c.1871A>T (p.Gln624Leu)
c.2072A>T (p.Gln691Leu)
c.2108A>T (p.Gln703Leu)
c.2084A>T (p.Gln695Leu)
13g.108209197T>CCA256180106LIG4c.1871A>G (p.Gln624Arg)
c.2072A>G (p.Gln691Arg)
c.2108A>G (p.Gln703Arg)
c.2084A>G (p.Gln695Arg)
 dbSNP
13g.108209197T>GCA388614142LIG4c.1871A>C (p.Gln624Pro)
c.2072A>C (p.Gln691Pro)
c.2108A>C (p.Gln703Pro)
c.2084A>C (p.Gln695Pro)
13g.108209197T=CA2117794082LIG4c.1871A= (p.Gln624=)
c.2072A= (p.Gln691=)
c.2108A= (p.Gln703=)
c.2084A= (p.Gln695=)
13g.108209198G>ACA388614145LIG4c.1870C>T (p.Gln624Ter)
c.2071C>T (p.Gln691Ter)
c.2107C>T (p.Gln703Ter)
c.2083C>T (p.Gln695Ter)
13g.108209198G>CCA388614149LIG4c.1870C>G (p.Gln624Glu)
c.2071C>G (p.Gln691Glu)
c.2107C>G (p.Gln703Glu)
c.2083C>G (p.Gln695Glu)
13g.108209198G>TCA388614147LIG4c.1870C>A (p.Gln624Lys)
c.2071C>A (p.Gln691Lys)
c.2107C>A (p.Gln703Lys)
c.2083C>A (p.Gln695Lys)
13g.108209199T>ACA484975437LIG4c.1869A>T (p.Val623=)
c.2070A>T (p.Val690=)
c.2106A>T (p.Val702=)
c.2082A>T (p.Val694=)
13g.108209199T>CCA484975438LIG4c.1869A>G (p.Val623=)
c.2070A>G (p.Val690=)
c.2106A>G (p.Val702=)
c.2082A>G (p.Val694=)
13g.108209199T>GCA484975439LIG4c.1869A>C (p.Val623=)
c.2070A>C (p.Val690=)
c.2106A>C (p.Val702=)
c.2082A>C (p.Val694=)
13g.108209200A>CCA388614150LIG4c.1868T>G (p.Val623Gly)
c.2069T>G (p.Val690Gly)
c.2105T>G (p.Val702Gly)
c.2081T>G (p.Val694Gly)
13g.108209200A>GCA388614154LIG4c.1868T>C (p.Val623Ala)
c.2069T>C (p.Val690Ala)
c.2105T>C (p.Val702Ala)
c.2081T>C (p.Val694Ala)
13g.108209200A>TCA388614152LIG4c.1868T>A (p.Val623Glu)
c.2069T>A (p.Val690Glu)
c.2105T>A (p.Val702Glu)
c.2081T>A (p.Val694Glu)
13g.108209201C>ACA388614155LIG4c.1867G>T (p.Val623Leu)
c.2068G>T (p.Val690Leu)
c.2104G>T (p.Val702Leu)
c.2080G>T (p.Val694Leu)
 gnomAD v4
13g.108209201C=CA2117794083LIG4c.1867G= (p.Val623=)
c.2068G= (p.Val690=)
c.2104G= (p.Val702=)
c.2080G= (p.Val694=)
13g.108209201C>GCA388614159LIG4c.1867G>C (p.Val623Leu)
c.2068G>C (p.Val690Leu)
c.2104G>C (p.Val702Leu)
c.2080G>C (p.Val694Leu)
13g.108209201C>TCA388614157LIG4c.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
13g.108209202T>ACA484975441LIG4c.1866A>T (p.Ile622=)
c.2067A>T (p.Ile689=)
c.2103A>T (p.Ile701=)
c.2079A>T (p.Ile693=)
 ClinVar
13g.108209202T>CCA256180112LIG4c.1866A>G (p.Ile622Met)
c.2067A>G (p.Ile689Met)
c.2103A>G (p.Ile701Met)
c.2079A>G (p.Ile693Met)
 dbSNP
13g.108209202T>GCA484975443LIG4c.1866A>C (p.Ile622=)
c.2067A>C (p.Ile689=)
c.2103A>C (p.Ile701=)
c.2079A>C (p.Ile693=)
13g.108209202T=CA2117794084LIG4c.1866A= (p.Ile622=)
c.2067A= (p.Ile689=)
c.2103A= (p.Ile701=)
c.2079A= (p.Ile693=)
13g.108209203A=CA2117794085LIG4c.1865T= (p.Ile622=)
c.2066T= (p.Ile689=)
c.2102T= (p.Ile701=)
c.2078T= (p.Ile693=)
13g.108209203A>CCA388614161LIG4c.1865T>G (p.Ile622Arg)
c.2066T>G (p.Ile689Arg)
c.2102T>G (p.Ile701Arg)
c.2078T>G (p.Ile693Arg)
13g.108209203A>GCA7043562LIG4c.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
13g.108209203A>TCA388614164LIG4c.1865T>A (p.Ile622Lys)
c.2066T>A (p.Ile689Lys)
c.2102T>A (p.Ile701Lys)
c.2078T>A (p.Ile693Lys)
13g.108209204T>ACA388614167LIG4c.1864A>T (p.Ile622Leu)
c.2065A>T (p.Ile689Leu)
c.2101A>T (p.Ile701Leu)
c.2077A>T (p.Ile693Leu)
13g.108209204T>CCA388614171LIG4c.1864A>G (p.Ile622Val)
c.2065A>G (p.Ile689Val)
c.2101A>G (p.Ile701Val)
c.2077A>G (p.Ile693Val)
 dbSNP gnomAD v4
13g.108209204T>GCA388614174LIG4c.1864A>C (p.Ile622Leu)
c.2065A>C (p.Ile689Leu)
c.2101A>C (p.Ile701Leu)
c.2077A>C (p.Ile693Leu)
13g.108209204T=CA2117794086LIG4c.1864A= (p.Ile622=)
c.2065A= (p.Ile689=)
c.2101A= (p.Ile701=)
c.2077A= (p.Ile693=)
13g.108209205A=CA2117794087LIG4c.1863T= (p.Tyr621=)
c.2064T= (p.Tyr688=)
c.2100T= (p.Tyr700=)
c.2076T= (p.Tyr692=)
13g.108209205A>CCA388614176LIG4c.1863T>G (p.Tyr621Ter)
c.2064T>G (p.Tyr688Ter)
c.2100T>G (p.Tyr700Ter)
c.2076T>G (p.Tyr692Ter)
13g.108209205A>GCA484975452LIG4c.1863T>C (p.Tyr621=)
c.2064T>C (p.Tyr688=)
c.2100T>C (p.Tyr700=)
c.2076T>C (p.Tyr692=)
 dbSNP
13g.108209205A>TCA388614179LIG4c.1863T>A (p.Tyr621Ter)
c.2064T>A (p.Tyr688Ter)
c.2100T>A (p.Tyr700Ter)
c.2076T>A (p.Tyr692Ter)
13g.108209206T>ACA388614183LIG4c.1862A>T (p.Tyr621Phe)
c.2063A>T (p.Tyr688Phe)
c.2099A>T (p.Tyr700Phe)
c.2075A>T (p.Tyr692Phe)
13g.108209206T>CCA388614185LIG4c.1862A>G (p.Tyr621Cys)
c.2063A>G (p.Tyr688Cys)
c.2099A>G (p.Tyr700Cys)
c.2075A>G (p.Tyr692Cys)
 gnomAD v4
13g.108209206T>GCA388614186LIG4c.1862A>C (p.Tyr621Ser)
c.2063A>C (p.Tyr688Ser)
c.2099A>C (p.Tyr700Ser)
c.2075A>C (p.Tyr692Ser)
13g.108209207A=CA2117794088LIG4c.1861T= (p.Tyr621=)
c.2062T= (p.Tyr688=)
c.2098T= (p.Tyr700=)
c.2074T= (p.Tyr692=)
13g.108209207A>CCA388614189LIG4c.1861T>G (p.Tyr621Asp)
c.2062T>G (p.Tyr688Asp)
c.2098T>G (p.Tyr700Asp)
c.2074T>G (p.Tyr692Asp)
13g.108209207A>GCA388614194LIG4c.1861T>C (p.Tyr621His)
c.2062T>C (p.Tyr688His)
c.2098T>C (p.Tyr700His)
c.2074T>C (p.Tyr692His)
 dbSNP gnomAD v3 gnomAD v4
13g.108209207A>TCA388614192LIG4c.1861T>A (p.Tyr621Asn)
c.2062T>A (p.Tyr688Asn)
c.2098T>A (p.Tyr700Asn)
c.2074T>A (p.Tyr692Asn)
13g.108209208A>CCA484975458LIG4c.1860T>G (p.Gly620=)
c.2061T>G (p.Gly687=)
c.2097T>G (p.Gly699=)
c.2073T>G (p.Gly691=)
 COSMIC
13g.108209208A>GCA484975459LIG4c.1860T>C (p.Gly620=)
c.2061T>C (p.Gly687=)
c.2097T>C (p.Gly699=)
c.2073T>C (p.Gly691=)
13g.108209208A>TCA484975461LIG4c.1860T>A (p.Gly620=)
c.2061T>A (p.Gly687=)
c.2097T>A (p.Gly699=)
c.2073T>A (p.Gly691=)
13g.108209209C>ACA388614196LIG4c.1859G>T (p.Gly620Val)
c.2060G>T (p.Gly687Val)
c.2096G>T (p.Gly699Val)
c.2072G>T (p.Gly691Val)
 gnomAD v4
13g.108209209C=CA2117794089LIG4c.1859G= (p.Gly620=)
c.2060G= (p.Gly687=)
c.2096G= (p.Gly699=)
c.2072G= (p.Gly691=)
13g.108209209C>GCA388614198LIG4c.1859G>C (p.Gly620Ala)
c.2060G>C (p.Gly687Ala)
c.2096G>C (p.Gly699Ala)
c.2072G>C (p.Gly691Ala)
 dbSNP
13g.108209209C>TCA388614201LIG4c.1859G>A (p.Gly620Asp)
c.2060G>A (p.Gly687Asp)
c.2096G>A (p.Gly699Asp)
c.2072G>A (p.Gly691Asp)
13g.108209210C>ACA388614205LIG4c.1858G>T (p.Gly620Cys)
c.2059G>T (p.Gly687Cys)
c.2095G>T (p.Gly699Cys)
c.2071G>T (p.Gly691Cys)
 dbSNP COSMIC
13g.108209210C=CA2117794090LIG4c.1858G= (p.Gly620=)
c.2059G= (p.Gly687=)
c.2095G= (p.Gly699=)
c.2071G= (p.Gly691=)
13g.108209210C>GCA388614208LIG4c.1858G>C (p.Gly620Arg)
c.2059G>C (p.Gly687Arg)
c.2095G>C (p.Gly699Arg)
c.2071G>C (p.Gly691Arg)
13g.108209210C>TCA388614210LIG4c.1858G>A (p.Gly620Ser)
c.2059G>A (p.Gly687Ser)
c.2095G>A (p.Gly699Ser)
c.2071G>A (p.Gly691Ser)
 ClinVar gnomAD v4
13g.108209211A>CCA484975462LIG4c.1857T>G (p.Gly619=)
c.2058T>G (p.Gly686=)
c.2094T>G (p.Gly698=)
c.2070T>G (p.Gly690=)
13g.108209211A>GCA484975463LIG4c.1857T>C (p.Gly619=)
c.2058T>C (p.Gly686=)
c.2094T>C (p.Gly698=)
c.2070T>C (p.Gly690=)
13g.108209211A>TCA484975464LIG4c.1857T>A (p.Gly619=)
c.2058T>A (p.Gly686=)
c.2094T>A (p.Gly698=)
c.2070T>A (p.Gly690=)
13g.108209212C>ACA388614211LIG4c.1856G>T (p.Gly619Val)
c.2057G>T (p.Gly686Val)
c.2093G>T (p.Gly698Val)
c.2069G>T (p.Gly690Val)
13g.108209212C>GCA388614213LIG4c.1856G>C (p.Gly619Ala)
c.2057G>C (p.Gly686Ala)
c.2093G>C (p.Gly698Ala)
c.2069G>C (p.Gly690Ala)
13g.108209212C>TCA388614216LIG4c.1856G>A (p.Gly619Asp)
c.2057G>A (p.Gly686Asp)
c.2093G>A (p.Gly698Asp)
c.2069G>A (p.Gly690Asp)
13g.108209213C>ACA388614218LIG4c.1855G>T (p.Gly619Cys)
c.2056G>T (p.Gly686Cys)
c.2092G>T (p.Gly698Cys)
c.2068G>T (p.Gly690Cys)
13g.108209213C=CA2117794091LIG4c.1855G= (p.Gly619=)
c.2056G= (p.Gly686=)
c.2092G= (p.Gly698=)
c.2068G= (p.Gly690=)
13g.108209213C>GCA388614219LIG4c.1855G>C (p.Gly619Arg)
c.2056G>C (p.Gly686Arg)
c.2092G>C (p.Gly698Arg)
c.2068G>C (p.Gly690Arg)
13g.108209213C>TCA388614217LIG4c.1855G>A (p.Gly619Ser)
c.2056G>A (p.Gly686Ser)
c.2092G>A (p.Gly698Ser)
c.2068G>A (p.Gly690Ser)
 dbSNP gnomAD v2 gnomAD v4
13g.108209214A>CCA388614222LIG4c.1854T>G (p.Phe618Leu)
c.2055T>G (p.Phe685Leu)
c.2091T>G (p.Phe697Leu)
c.2067T>G (p.Phe689Leu)
13g.108209214A>GCA484975472LIG4c.1854T>C (p.Phe618=)
c.2055T>C (p.Phe685=)
c.2091T>C (p.Phe697=)
c.2067T>C (p.Phe689=)
13g.108209214A>TCA388614225LIG4c.1854T>A (p.Phe618Leu)
c.2055T>A (p.Phe685Leu)
c.2091T>A (p.Phe697Leu)
c.2067T>A (p.Phe689Leu)
13g.108209215A>CCA388614227LIG4c.1853T>G (p.Phe618Cys)
c.2054T>G (p.Phe685Cys)
c.2090T>G (p.Phe697Cys)
c.2066T>G (p.Phe689Cys)
13g.108209215A>GCA388614228LIG4c.1853T>C (p.Phe618Ser)
c.2054T>C (p.Phe685Ser)
c.2090T>C (p.Phe697Ser)
c.2066T>C (p.Phe689Ser)
13g.108209215A>TCA388614230LIG4c.1853T>A (p.Phe618Tyr)
c.2054T>A (p.Phe685Tyr)
c.2090T>A (p.Phe697Tyr)
c.2066T>A (p.Phe689Tyr)
13g.108209216A>CCA388614232LIG4c.1852T>G (p.Phe618Val)
c.2053T>G (p.Phe685Val)
c.2089T>G (p.Phe697Val)
c.2065T>G (p.Phe689Val)
13g.108209216A>GCA388614235LIG4c.1852T>C (p.Phe618Leu)
c.2053T>C (p.Phe685Leu)
c.2089T>C (p.Phe697Leu)
c.2065T>C (p.Phe689Leu)
13g.108209216A>TCA388614237LIG4c.1852T>A (p.Phe618Ile)
c.2053T>A (p.Phe685Ile)
c.2089T>A (p.Phe697Ile)
c.2065T>A (p.Phe689Ile)
13g.108209217T>ACA388614239LIG4c.1851A>T (p.Glu617Asp)
c.2052A>T (p.Glu684Asp)
c.2088A>T (p.Glu696Asp)
c.2064A>T (p.Glu688Asp)
13g.108209217T>CCA484975479LIG4c.1851A>G (p.Glu617=)
c.2052A>G (p.Glu684=)
c.2088A>G (p.Glu696=)
c.2064A>G (p.Glu688=)
13g.108209217T>GCA388614241LIG4c.1851A>C (p.Glu617Asp)
c.2052A>C (p.Glu684Asp)
c.2088A>C (p.Glu696Asp)
c.2064A>C (p.Glu688Asp)
13g.108209218T>ACA388614244LIG4c.1850A>T (p.Glu617Val)
c.2051A>T (p.Glu684Val)
c.2087A>T (p.Glu696Val)
c.2063A>T (p.Glu688Val)
13g.108209218T>CCA388614246LIG4c.1850A>G (p.Glu617Gly)
c.2051A>G (p.Glu684Gly)
c.2087A>G (p.Glu696Gly)
c.2063A>G (p.Glu688Gly)
13g.108209218T>GCA388614249LIG4c.1850A>C (p.Glu617Ala)
c.2051A>C (p.Glu684Ala)
c.2087A>C (p.Glu696Ala)
c.2063A>C (p.Glu688Ala)
 gnomAD v4

Number of alleles fetched