Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108209371T>ACA388615497LIG4c.1697A>T (p.Lys566Met)
c.1898A>T (p.Lys633Met)
c.1934A>T (p.Lys645Met)
c.1910A>T (p.Lys637Met)
13g.108209371T>CCA388615498LIG4c.1697A>G (p.Lys566Arg)
c.1898A>G (p.Lys633Arg)
c.1934A>G (p.Lys645Arg)
c.1910A>G (p.Lys637Arg)
 gnomAD v4
13g.108209371T>GCA388615507LIG4c.1697A>C (p.Lys566Thr)
c.1898A>C (p.Lys633Thr)
c.1934A>C (p.Lys645Thr)
c.1910A>C (p.Lys637Thr)
13g.108209372T>ACA388615509LIG4c.1696A>T (p.Lys566Ter)
c.1897A>T (p.Lys633Ter)
c.1933A>T (p.Lys645Ter)
c.1909A>T (p.Lys637Ter)
13g.108209372T>CCA388615511LIG4c.1696A>G (p.Lys566Glu)
c.1897A>G (p.Lys633Glu)
c.1933A>G (p.Lys645Glu)
c.1909A>G (p.Lys637Glu)
13g.108209372T>GCA388615512LIG4c.1696A>C (p.Lys566Gln)
c.1897A>C (p.Lys633Gln)
c.1933A>C (p.Lys645Gln)
c.1909A>C (p.Lys637Gln)
13g.108209373T>ACA484975655LIG4c.1695A>T (p.Pro565=)
c.1896A>T (p.Pro632=)
c.1932A>T (p.Pro644=)
c.1908A>T (p.Pro636=)
13g.108209373T>CCA7043594LIG4c.1695A>G (p.Pro565=)
c.1896A>G (p.Pro632=)
c.1932A>G (p.Pro644=)
c.1908A>G (p.Pro636=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209373T>GCA484975656LIG4c.1695A>C (p.Pro565=)
c.1896A>C (p.Pro632=)
c.1932A>C (p.Pro644=)
c.1908A>C (p.Pro636=)
13g.108209373T=CA2117794163LIG4c.1695A= (p.Pro565=)
c.1896A= (p.Pro632=)
c.1932A= (p.Pro644=)
c.1908A= (p.Pro636=)
13g.108209374G>ACA388615515LIG4c.1694C>T (p.Pro565Leu)
c.1895C>T (p.Pro632Leu)
c.1931C>T (p.Pro644Leu)
c.1907C>T (p.Pro636Leu)
13g.108209374G>CCA388615516LIG4c.1694C>G (p.Pro565Arg)
c.1895C>G (p.Pro632Arg)
c.1931C>G (p.Pro644Arg)
c.1907C>G (p.Pro636Arg)
13g.108209374G>TCA388615518LIG4c.1694C>A (p.Pro565Gln)
c.1895C>A (p.Pro632Gln)
c.1931C>A (p.Pro644Gln)
c.1907C>A (p.Pro636Gln)
13g.108209377delCA2575452315LIG4c.1694del (p.Pro565GlnfsTer3)
c.1895del (p.Pro632GlnfsTer3)
c.1931del (p.Pro644GlnfsTer3)
c.1907del (p.Pro636GlnfsTer3)
13g.108209375G>ACA388615524LIG4c.1693C>T (p.Pro565Ser)
c.1894C>T (p.Pro632Ser)
c.1930C>T (p.Pro644Ser)
c.1906C>T (p.Pro636Ser)
13g.108209375G>CCA388615520LIG4c.1693C>G (p.Pro565Ala)
c.1894C>G (p.Pro632Ala)
c.1930C>G (p.Pro644Ala)
c.1906C>G (p.Pro636Ala)
13g.108209375G>TCA388615522LIG4c.1693C>A (p.Pro565Thr)
c.1894C>A (p.Pro632Thr)
c.1930C>A (p.Pro644Thr)
c.1906C>A (p.Pro636Thr)
13g.108209376G>ACA256180525LIG4c.1692C>T (p.Ala564=)
c.1893C>T (p.Ala631=)
c.1929C>T (p.Ala643=)
c.1905C>T (p.Ala635=)
 ClinVar dbSNP
13g.108209376G>CCA484975663LIG4c.1692C>G (p.Ala564=)
c.1893C>G (p.Ala631=)
c.1929C>G (p.Ala643=)
c.1905C>G (p.Ala635=)
13g.108209376G=CA2117794164LIG4c.1692C= (p.Ala564=)
c.1893C= (p.Ala631=)
c.1929C= (p.Ala643=)
c.1905C= (p.Ala635=)
13g.108209376G>TCA484975664LIG4c.1692C>A (p.Ala564=)
c.1893C>A (p.Ala631=)
c.1929C>A (p.Ala643=)
c.1905C>A (p.Ala635=)
13g.108209377G>ACA256180547LIG4c.1691C>T (p.Ala564Val)
c.1892C>T (p.Ala631Val)
c.1928C>T (p.Ala643Val)
c.1904C>T (p.Ala635Val)
 dbSNP
13g.108209377G>CCA388615525LIG4c.1691C>G (p.Ala564Gly)
c.1892C>G (p.Ala631Gly)
c.1928C>G (p.Ala643Gly)
c.1904C>G (p.Ala635Gly)
13g.108209377G=CA2117794165LIG4c.1691C= (p.Ala564=)
c.1892C= (p.Ala631=)
c.1928C= (p.Ala643=)
c.1904C= (p.Ala635=)
13g.108209377G>TCA7043595LIG4c.1691C>A (p.Ala564Asp)
c.1892C>A (p.Ala631Asp)
c.1928C>A (p.Ala643Asp)
c.1904C>A (p.Ala635Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209378C>ACA388615526LIG4c.1690G>T (p.Ala564Ser)
c.1891G>T (p.Ala631Ser)
c.1927G>T (p.Ala643Ser)
c.1903G>T (p.Ala635Ser)
 ClinVar
13g.108209378C=CA2117794166LIG4c.1690G= (p.Ala564=)
c.1891G= (p.Ala631=)
c.1927G= (p.Ala643=)
c.1903G= (p.Ala635=)
13g.108209378C>GCA388615527LIG4c.1690G>C (p.Ala564Pro)
c.1891G>C (p.Ala631Pro)
c.1927G>C (p.Ala643Pro)
c.1903G>C (p.Ala635Pro)
13g.108209378C>TCA7043596LIG4c.1690G>A (p.Ala564Thr)
c.1891G>A (p.Ala631Thr)
c.1927G>A (p.Ala643Thr)
c.1903G>A (p.Ala635Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209379A=CA2117794167LIG4c.1689T= (p.Ala563=)
c.1890T= (p.Ala630=)
c.1926T= (p.Ala642=)
c.1902T= (p.Ala634=)
13g.108209379A>CCA484975673LIG4c.1689T>G (p.Ala563=)
c.1890T>G (p.Ala630=)
c.1926T>G (p.Ala642=)
c.1902T>G (p.Ala634=)
13g.108209379A>GCA7043597LIG4c.1689T>C (p.Ala563=)
c.1890T>C (p.Ala630=)
c.1926T>C (p.Ala642=)
c.1902T>C (p.Ala634=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209379A>TCA484975674LIG4c.1689T>A (p.Ala563=)
c.1890T>A (p.Ala630=)
c.1926T>A (p.Ala642=)
c.1902T>A (p.Ala634=)
13g.108209380G>ACA388615531LIG4c.1688C>T (p.Ala563Val)
c.1889C>T (p.Ala630Val)
c.1925C>T (p.Ala642Val)
c.1901C>T (p.Ala634Val)
 dbSNP gnomAD v4
13g.108209380G>CCA388615533LIG4c.1688C>G (p.Ala563Gly)
c.1889C>G (p.Ala630Gly)
c.1925C>G (p.Ala642Gly)
c.1901C>G (p.Ala634Gly)
13g.108209380G=CA2117794168LIG4c.1688C= (p.Ala563=)
c.1889C= (p.Ala630=)
c.1925C= (p.Ala642=)
c.1901C= (p.Ala634=)
13g.108209380G>TCA388615536LIG4c.1688C>A (p.Ala563Asp)
c.1889C>A (p.Ala630Asp)
c.1925C>A (p.Ala642Asp)
c.1901C>A (p.Ala634Asp)
13g.108209381C>ACA388615540LIG4c.1687G>T (p.Ala563Ser)
c.1888G>T (p.Ala630Ser)
c.1924G>T (p.Ala642Ser)
c.1900G>T (p.Ala634Ser)
13g.108209381C=CA2117794169LIG4c.1687G= (p.Ala563=)
c.1888G= (p.Ala630=)
c.1924G= (p.Ala642=)
c.1900G= (p.Ala634=)
13g.108209381C>GCA388615542LIG4c.1687G>C (p.Ala563Pro)
c.1888G>C (p.Ala630Pro)
c.1924G>C (p.Ala642Pro)
c.1900G>C (p.Ala634Pro)
 ClinVar dbSNP gnomAD v4
13g.108209381C>TCA388615538LIG4c.1687G>A (p.Ala563Thr)
c.1888G>A (p.Ala630Thr)
c.1924G>A (p.Ala642Thr)
c.1900G>A (p.Ala634Thr)
 dbSNP gnomAD v3 gnomAD v4
13g.108209382T>ACA388615546LIG4c.1686A>T (p.Lys562Asn)
c.1887A>T (p.Lys629Asn)
c.1923A>T (p.Lys641Asn)
c.1899A>T (p.Lys633Asn)
13g.108209382T>CCA484975680LIG4c.1686A>G (p.Lys562=)
c.1887A>G (p.Lys629=)
c.1923A>G (p.Lys641=)
c.1899A>G (p.Lys633=)
13g.108209382T>GCA388615544LIG4c.1686A>C (p.Lys562Asn)
c.1887A>C (p.Lys629Asn)
c.1923A>C (p.Lys641Asn)
c.1899A>C (p.Lys633Asn)
13g.108209384delCA2623644106LIG4c.1686del (p.Ala563LeufsTer5)
c.1887del (p.Ala630LeufsTer5)
c.1923del (p.Ala642LeufsTer5)
c.1899del (p.Ala634LeufsTer5)
 gnomAD v4
13g.108209383T>ACA388615548LIG4c.1685A>T (p.Lys562Ile)
c.1886A>T (p.Lys629Ile)
c.1922A>T (p.Lys641Ile)
c.1898A>T (p.Lys633Ile)
13g.108209383T>CCA388615550LIG4c.1685A>G (p.Lys562Arg)
c.1886A>G (p.Lys629Arg)
c.1922A>G (p.Lys641Arg)
c.1898A>G (p.Lys633Arg)
 dbSNP gnomAD v2 gnomAD v4
13g.108209383T>GCA388615552LIG4c.1685A>C (p.Lys562Thr)
c.1886A>C (p.Lys629Thr)
c.1922A>C (p.Lys641Thr)
c.1898A>C (p.Lys633Thr)
13g.108209383T=CA2117794170LIG4c.1685A= (p.Lys562=)
c.1886A= (p.Lys629=)
c.1922A= (p.Lys641=)
c.1898A= (p.Lys633=)
13g.108209384T>ACA388615554LIG4c.1684A>T (p.Lys562Ter)
c.1885A>T (p.Lys629Ter)
c.1921A>T (p.Lys641Ter)
c.1897A>T (p.Lys633Ter)
 COSMIC
13g.108209384T>CCA388615556LIG4c.1684A>G (p.Lys562Glu)
c.1885A>G (p.Lys629Glu)
c.1921A>G (p.Lys641Glu)
c.1897A>G (p.Lys633Glu)
13g.108209384T>GCA388615558LIG4c.1684A>C (p.Lys562Gln)
c.1885A>C (p.Lys629Gln)
c.1921A>C (p.Lys641Gln)
c.1897A>C (p.Lys633Gln)
13g.108209385C>ACA7043598LIG4c.1683G>T (p.Arg561=)
c.1884G>T (p.Arg628=)
c.1920G>T (p.Arg640=)
c.1896G>T (p.Arg632=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209385C=CA2117794171LIG4c.1683G= (p.Arg561=)
c.1884G= (p.Arg628=)
c.1920G= (p.Arg640=)
c.1896G= (p.Arg632=)
13g.108209385C>GCA484975686LIG4c.1683G>C (p.Arg561=)
c.1884G>C (p.Arg628=)
c.1920G>C (p.Arg640=)
c.1896G>C (p.Arg632=)
13g.108209385C>TCA484975687LIG4c.1683G>A (p.Arg561=)
c.1884G>A (p.Arg628=)
c.1920G>A (p.Arg640=)
c.1896G>A (p.Arg632=)
 gnomAD v4
13g.108209386C>ACA388615562LIG4c.1682G>T (p.Arg561Leu)
c.1883G>T (p.Arg628Leu)
c.1919G>T (p.Arg640Leu)
c.1895G>T (p.Arg632Leu)
13g.108209386C=CA2117794172LIG4c.1682G= (p.Arg561=)
c.1883G= (p.Arg628=)
c.1919G= (p.Arg640=)
c.1895G= (p.Arg632=)
13g.108209386C>GCA388615564LIG4c.1682G>C (p.Arg561Pro)
c.1883G>C (p.Arg628Pro)
c.1919G>C (p.Arg640Pro)
c.1895G>C (p.Arg632Pro)
13g.108209386C>TCA7043599LIG4c.1682G>A (p.Arg561Gln)
c.1883G>A (p.Arg628Gln)
c.1919G>A (p.Arg640Gln)
c.1895G>A (p.Arg632Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209387G>ACA7043600LIG4c.1681C>T (p.Arg561Trp)
c.1882C>T (p.Arg628Trp)
c.1918C>T (p.Arg640Trp)
c.1894C>T (p.Arg632Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108209387G>CCA388615568LIG4c.1681C>G (p.Arg561Gly)
c.1882C>G (p.Arg628Gly)
c.1918C>G (p.Arg640Gly)
c.1894C>G (p.Arg632Gly)
13g.108209387G=CA2117794173LIG4c.1681C= (p.Arg561=)
c.1882C= (p.Arg628=)
c.1918C= (p.Arg640=)
c.1894C= (p.Arg632=)
13g.108209387G>TCA484975695LIG4c.1681C>A (p.Arg561=)
c.1882C>A (p.Arg628=)
c.1918C>A (p.Arg640=)
c.1894C>A (p.Arg632=)
 gnomAD v4
13g.108209388C>ACA388615571LIG4c.1680G>T (p.Lys560Asn)
c.1881G>T (p.Lys627Asn)
c.1917G>T (p.Lys639Asn)
c.1893G>T (p.Lys631Asn)
 dbSNP gnomAD v4
13g.108209388C=CA2117794174LIG4c.1680G= (p.Lys560=)
c.1881G= (p.Lys627=)
c.1917G= (p.Lys639=)
c.1893G= (p.Lys631=)
13g.108209388C>GCA388615570LIG4c.1680G>C (p.Lys560Asn)
c.1881G>C (p.Lys627Asn)
c.1917G>C (p.Lys639Asn)
c.1893G>C (p.Lys631Asn)
13g.108209388C>TCA484975696LIG4c.1680G>A (p.Lys560=)
c.1881G>A (p.Lys627=)
c.1917G>A (p.Lys639=)
c.1893G>A (p.Lys631=)
13g.108209388_108209390delCA2623644107LIG4c.1678_1680del (p.Lys560del)
c.1879_1881del (p.Lys627del)
c.1915_1917del (p.Lys639del)
c.1891_1893del (p.Lys631del)
 gnomAD v4
13g.108209389T>ACA388615573LIG4c.1679A>T (p.Lys560Met)
c.1880A>T (p.Lys627Met)
c.1916A>T (p.Lys639Met)
c.1892A>T (p.Lys631Met)
13g.108209389T>CCA388615575LIG4c.1679A>G (p.Lys560Arg)
c.1880A>G (p.Lys627Arg)
c.1916A>G (p.Lys639Arg)
c.1892A>G (p.Lys631Arg)
 dbSNP
13g.108209389T>GCA388615577LIG4c.1679A>C (p.Lys560Thr)
c.1880A>C (p.Lys627Thr)
c.1916A>C (p.Lys639Thr)
c.1892A>C (p.Lys631Thr)
13g.108209389T=CA2117794175LIG4c.1679A= (p.Lys560=)
c.1880A= (p.Lys627=)
c.1916A= (p.Lys639=)
c.1892A= (p.Lys631=)
13g.108209395dupCA645598278LIG4c.1679dup (p.Arg561AlafsTer15)
c.1880dup (p.Arg628AlafsTer15)
c.1916dup (p.Arg640AlafsTer15)
c.1892dup (p.Arg632AlafsTer15)
 ClinVar gnomAD v4 COSMIC
13g.108209393_108209395delCA2623644108LIG4c.1677_1679del (p.Lys560del)
c.1878_1880del (p.Lys627del)
c.1914_1916del (p.Lys639del)
c.1890_1892del (p.Lys631del)
 ClinVar gnomAD v4
13g.108209390T>ACA388615579LIG4c.1678A>T (p.Lys560Ter)
c.1879A>T (p.Lys627Ter)
c.1915A>T (p.Lys639Ter)
c.1891A>T (p.Lys631Ter)
13g.108209390T>CCA388615581LIG4c.1678A>G (p.Lys560Glu)
c.1879A>G (p.Lys627Glu)
c.1915A>G (p.Lys639Glu)
c.1891A>G (p.Lys631Glu)
13g.108209390T>GCA388615582LIG4c.1678A>C (p.Lys560Gln)
c.1879A>C (p.Lys627Gln)
c.1915A>C (p.Lys639Gln)
c.1891A>C (p.Lys631Gln)
13g.108209391T>ACA388615585LIG4c.1677A>T (p.Lys559Asn)
c.1878A>T (p.Lys626Asn)
c.1914A>T (p.Lys638Asn)
c.1890A>T (p.Lys630Asn)
13g.108209391T>CCA484975698LIG4c.1677A>G (p.Lys559=)
c.1878A>G (p.Lys626=)
c.1914A>G (p.Lys638=)
c.1890A>G (p.Lys630=)
13g.108209391T>GCA388615586LIG4c.1677A>C (p.Lys559Asn)
c.1878A>C (p.Lys626Asn)
c.1914A>C (p.Lys638Asn)
c.1890A>C (p.Lys630Asn)
13g.108209392T>ACA388615587LIG4c.1676A>T (p.Lys559Ile)
c.1877A>T (p.Lys626Ile)
c.1913A>T (p.Lys638Ile)
c.1889A>T (p.Lys630Ile)
13g.108209392T>CCA388615588LIG4c.1676A>G (p.Lys559Arg)
c.1877A>G (p.Lys626Arg)
c.1913A>G (p.Lys638Arg)
c.1889A>G (p.Lys630Arg)
13g.108209392T>GCA388615590LIG4c.1676A>C (p.Lys559Thr)
c.1877A>C (p.Lys626Thr)
c.1913A>C (p.Lys638Thr)
c.1889A>C (p.Lys630Thr)
13g.108209393T>ACA388615592LIG4c.1675A>T (p.Lys559Ter)
c.1876A>T (p.Lys626Ter)
c.1912A>T (p.Lys638Ter)
c.1888A>T (p.Lys630Ter)
13g.108209393T>CCA7043601LIG4c.1675A>G (p.Lys559Glu)
c.1876A>G (p.Lys626Glu)
c.1912A>G (p.Lys638Glu)
c.1888A>G (p.Lys630Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209393T>GCA388615593LIG4c.1675A>C (p.Lys559Gln)
c.1876A>C (p.Lys626Gln)
c.1912A>C (p.Lys638Gln)
c.1888A>C (p.Lys630Gln)
13g.108209393T=CA2117794176LIG4c.1675A= (p.Lys559=)
c.1876A= (p.Lys626=)
c.1912A= (p.Lys638=)
c.1888A= (p.Lys630=)
13g.108209394T>ACA388615594LIG4c.1674A>T (p.Glu558Asp)
c.1875A>T (p.Glu625Asp)
c.1911A>T (p.Glu637Asp)
c.1887A>T (p.Glu629Asp)
13g.108209394T>CCA484975702LIG4c.1674A>G (p.Glu558=)
c.1875A>G (p.Glu625=)
c.1911A>G (p.Glu637=)
c.1887A>G (p.Glu629=)
13g.108209394T>GCA388615596LIG4c.1674A>C (p.Glu558Asp)
c.1875A>C (p.Glu625Asp)
c.1911A>C (p.Glu637Asp)
c.1887A>C (p.Glu629Asp)
13g.108209395T>ACA388615597LIG4c.1673A>T (p.Glu558Val)
c.1874A>T (p.Glu625Val)
c.1910A>T (p.Glu637Val)
c.1886A>T (p.Glu629Val)
13g.108209395T>CCA388615601LIG4c.1673A>G (p.Glu558Gly)
c.1874A>G (p.Glu625Gly)
c.1910A>G (p.Glu637Gly)
c.1886A>G (p.Glu629Gly)
 dbSNP
13g.108209395T>GCA388615599LIG4c.1673A>C (p.Glu558Ala)
c.1874A>C (p.Glu625Ala)
c.1910A>C (p.Glu637Ala)
c.1886A>C (p.Glu629Ala)
13g.108209395T=CA2117794177LIG4c.1673A= (p.Glu558=)
c.1874A= (p.Glu625=)
c.1910A= (p.Glu637=)
c.1886A= (p.Glu629=)
13g.108209396C>ACA388615603LIG4c.1672G>T (p.Glu558Ter)
c.1873G>T (p.Glu625Ter)
c.1909G>T (p.Glu637Ter)
c.1885G>T (p.Glu629Ter)
13g.108209396C>GCA388615605LIG4c.1672G>C (p.Glu558Gln)
c.1873G>C (p.Glu625Gln)
c.1909G>C (p.Glu637Gln)
c.1885G>C (p.Glu629Gln)
 gnomAD v4
13g.108209396C>TCA388615607LIG4c.1672G>A (p.Glu558Lys)
c.1873G>A (p.Glu625Lys)
c.1909G>A (p.Glu637Lys)
c.1885G>A (p.Glu629Lys)
13g.108209397T>ACA388615609LIG4c.1671A>T (p.Gln557His)
c.1872A>T (p.Gln624His)
c.1908A>T (p.Gln636His)
c.1884A>T (p.Gln628His)
 COSMIC
13g.108209397T>CCA484975709LIG4c.1671A>G (p.Gln557=)
c.1872A>G (p.Gln624=)
c.1908A>G (p.Gln636=)
c.1884A>G (p.Gln628=)
 gnomAD v4
13g.108209397T>GCA388615611LIG4c.1671A>C (p.Gln557His)
c.1872A>C (p.Gln624His)
c.1908A>C (p.Gln636His)
c.1884A>C (p.Gln628His)
13g.108209398T>ACA388615614LIG4c.1670A>T (p.Gln557Leu)
c.1871A>T (p.Gln624Leu)
c.1907A>T (p.Gln636Leu)
c.1883A>T (p.Gln628Leu)
13g.108209398T>CCA388615616LIG4c.1670A>G (p.Gln557Arg)
c.1871A>G (p.Gln624Arg)
c.1907A>G (p.Gln636Arg)
c.1883A>G (p.Gln628Arg)
13g.108209398T>GCA388615617LIG4c.1670A>C (p.Gln557Pro)
c.1871A>C (p.Gln624Pro)
c.1907A>C (p.Gln636Pro)
c.1883A>C (p.Gln628Pro)
13g.108209399G>ACA388615620LIG4c.1669C>T (p.Gln557Ter)
c.1870C>T (p.Gln624Ter)
c.1906C>T (p.Gln636Ter)
c.1882C>T (p.Gln628Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108209399G>CCA388615622LIG4c.1669C>G (p.Gln557Glu)
c.1870C>G (p.Gln624Glu)
c.1906C>G (p.Gln636Glu)
c.1882C>G (p.Gln628Glu)
13g.108209399G=CA2117794178LIG4c.1669C= (p.Gln557=)
c.1870C= (p.Gln624=)
c.1906C= (p.Gln636=)
c.1882C= (p.Gln628=)
13g.108209399G>TCA388615624LIG4c.1669C>A (p.Gln557Lys)
c.1870C>A (p.Gln624Lys)
c.1906C>A (p.Gln636Lys)
c.1882C>A (p.Gln628Lys)
13g.108209400T>ACA484975715LIG4c.1668A>T (p.Pro556=)
c.1869A>T (p.Pro623=)
c.1905A>T (p.Pro635=)
c.1881A>T (p.Pro627=)
13g.108209400T>CCA484975716LIG4c.1668A>G (p.Pro556=)
c.1869A>G (p.Pro623=)
c.1905A>G (p.Pro635=)
c.1881A>G (p.Pro627=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108209400T>GCA484975717LIG4c.1668A>C (p.Pro556=)
c.1869A>C (p.Pro623=)
c.1905A>C (p.Pro635=)
c.1881A>C (p.Pro627=)
13g.108209400T=CA2117794179LIG4c.1668A= (p.Pro556=)
c.1869A= (p.Pro623=)
c.1905A= (p.Pro635=)
c.1881A= (p.Pro627=)
13g.108209401G>ACA388615628LIG4c.1667C>T (p.Pro556Leu)
c.1868C>T (p.Pro623Leu)
c.1904C>T (p.Pro635Leu)
c.1880C>T (p.Pro627Leu)
13g.108209401G>CCA388615627LIG4c.1667C>G (p.Pro556Arg)
c.1868C>G (p.Pro623Arg)
c.1904C>G (p.Pro635Arg)
c.1880C>G (p.Pro627Arg)
 ClinVar dbSNP gnomAD v4
13g.108209401G=CA2117794180LIG4c.1667C= (p.Pro556=)
c.1868C= (p.Pro623=)
c.1904C= (p.Pro635=)
c.1880C= (p.Pro627=)
13g.108209401G>TCA388615626LIG4c.1667C>A (p.Pro556Gln)
c.1868C>A (p.Pro623Gln)
c.1904C>A (p.Pro635Gln)
c.1880C>A (p.Pro627Gln)
13g.108209402G>ACA388615629LIG4c.1666C>T (p.Pro556Ser)
c.1867C>T (p.Pro623Ser)
c.1903C>T (p.Pro635Ser)
c.1879C>T (p.Pro627Ser)
13g.108209402G>CCA388615630LIG4c.1666C>G (p.Pro556Ala)
c.1867C>G (p.Pro623Ala)
c.1903C>G (p.Pro635Ala)
c.1879C>G (p.Pro627Ala)
13g.108209402G>TCA388615632LIG4c.1666C>A (p.Pro556Thr)
c.1867C>A (p.Pro623Thr)
c.1903C>A (p.Pro635Thr)
c.1879C>A (p.Pro627Thr)
13g.108209403T>ACA388615633LIG4c.1665A>T (p.Glu555Asp)
c.1866A>T (p.Glu622Asp)
c.1902A>T (p.Glu634Asp)
c.1878A>T (p.Glu626Asp)
13g.108209403T>CCA484975730LIG4c.1665A>G (p.Glu555=)
c.1866A>G (p.Glu622=)
c.1902A>G (p.Glu634=)
c.1878A>G (p.Glu626=)
13g.108209403T>GCA388615634LIG4c.1665A>C (p.Glu555Asp)
c.1866A>C (p.Glu622Asp)
c.1902A>C (p.Glu634Asp)
c.1878A>C (p.Glu626Asp)
13g.108209404T>ACA388615636LIG4c.1664A>T (p.Glu555Val)
c.1865A>T (p.Glu622Val)
c.1901A>T (p.Glu634Val)
c.1877A>T (p.Glu626Val)
13g.108209404T>CCA388615637LIG4c.1664A>G (p.Glu555Gly)
c.1865A>G (p.Glu622Gly)
c.1901A>G (p.Glu634Gly)
c.1877A>G (p.Glu626Gly)
13g.108209404T>GCA388615639LIG4c.1664A>C (p.Glu555Ala)
c.1865A>C (p.Glu622Ala)
c.1901A>C (p.Glu634Ala)
c.1877A>C (p.Glu626Ala)
13g.108209405C>ACA388615642LIG4c.1663G>T (p.Glu555Ter)
c.1864G>T (p.Glu622Ter)
c.1900G>T (p.Glu634Ter)
c.1876G>T (p.Glu626Ter)
13g.108209405C>GCA388615643LIG4c.1663G>C (p.Glu555Gln)
c.1864G>C (p.Glu622Gln)
c.1900G>C (p.Glu634Gln)
c.1876G>C (p.Glu626Gln)
13g.108209405C>TCA388615647LIG4c.1663G>A (p.Glu555Lys)
c.1864G>A (p.Glu622Lys)
c.1900G>A (p.Glu634Lys)
c.1876G>A (p.Glu626Lys)
13g.108209406A>CCA388615649LIG4c.1662T>G (p.Asp554Glu)
c.1863T>G (p.Asp621Glu)
c.1899T>G (p.Asp633Glu)
c.1875T>G (p.Asp625Glu)
 dbSNP gnomAD v4
13g.108209406A>GCA484975737LIG4c.1662T>C (p.Asp554=)
c.1863T>C (p.Asp621=)
c.1899T>C (p.Asp633=)
c.1875T>C (p.Asp625=)
 gnomAD v4
13g.108209406A>TCA388615651LIG4c.1662T>A (p.Asp554Glu)
c.1863T>A (p.Asp621Glu)
c.1899T>A (p.Asp633Glu)
c.1875T>A (p.Asp625Glu)
 dbSNP
13g.108209407T>ACA388615658LIG4c.1661A>T (p.Asp554Val)
c.1862A>T (p.Asp621Val)
c.1898A>T (p.Asp633Val)
c.1874A>T (p.Asp625Val)
13g.108209407T>CCA388615660LIG4c.1661A>G (p.Asp554Gly)
c.1862A>G (p.Asp621Gly)
c.1898A>G (p.Asp633Gly)
c.1874A>G (p.Asp625Gly)
13g.108209407T>GCA388615654LIG4c.1661A>C (p.Asp554Ala)
c.1862A>C (p.Asp621Ala)
c.1898A>C (p.Asp633Ala)
c.1874A>C (p.Asp625Ala)
13g.108209408C>ACA388615663LIG4c.1660G>T (p.Asp554Tyr)
c.1861G>T (p.Asp621Tyr)
c.1897G>T (p.Asp633Tyr)
c.1873G>T (p.Asp625Tyr)
13g.108209408C=CA2117794181LIG4c.1660G= (p.Asp554=)
c.1861G= (p.Asp621=)
c.1897G= (p.Asp633=)
c.1873G= (p.Asp625=)
13g.108209408C>GCA388615666LIG4c.1660G>C (p.Asp554His)
c.1861G>C (p.Asp621His)
c.1897G>C (p.Asp633His)
c.1873G>C (p.Asp625His)
 dbSNP gnomAD v2 gnomAD v4
13g.108209408C>TCA388615664LIG4c.1660G>A (p.Asp554Asn)
c.1861G>A (p.Asp621Asn)
c.1897G>A (p.Asp633Asn)
c.1873G>A (p.Asp625Asn)
13g.108209409A=CA2117794182LIG4c.1659T= (p.Asp553=)
c.1860T= (p.Asp620=)
c.1896T= (p.Asp632=)
c.1872T= (p.Asp624=)
13g.108209409A>CCA388615668LIG4c.1659T>G (p.Asp553Glu)
c.1860T>G (p.Asp620Glu)
c.1896T>G (p.Asp632Glu)
c.1872T>G (p.Asp624Glu)
13g.108209409A>GCA484975740LIG4c.1659T>C (p.Asp553=)
c.1860T>C (p.Asp620=)
c.1896T>C (p.Asp632=)
c.1872T>C (p.Asp624=)
 dbSNP gnomAD v3 gnomAD v4
13g.108209409A>TCA388615670LIG4c.1659T>A (p.Asp553Glu)
c.1860T>A (p.Asp620Glu)
c.1896T>A (p.Asp632Glu)
c.1872T>A (p.Asp624Glu)
13g.108209410T>ACA388615672LIG4c.1658A>T (p.Asp553Val)
c.1859A>T (p.Asp620Val)
c.1895A>T (p.Asp632Val)
c.1871A>T (p.Asp624Val)
13g.108209410T>CCA7043602LIG4c.1658A>G (p.Asp553Gly)
c.1859A>G (p.Asp620Gly)
c.1895A>G (p.Asp632Gly)
c.1871A>G (p.Asp624Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209410T>GCA388615674LIG4c.1658A>C (p.Asp553Ala)
c.1859A>C (p.Asp620Ala)
c.1895A>C (p.Asp632Ala)
c.1871A>C (p.Asp624Ala)
13g.108209410T=CA2117794183LIG4c.1658A= (p.Asp553=)
c.1859A= (p.Asp620=)
c.1895A= (p.Asp632=)
c.1871A= (p.Asp624=)
13g.108209411C>ACA388615677LIG4c.1657G>T (p.Asp553Tyr)
c.1858G>T (p.Asp620Tyr)
c.1894G>T (p.Asp632Tyr)
c.1870G>T (p.Asp624Tyr)
 gnomAD v4
13g.108209411C=CA2117794184LIG4c.1657G= (p.Asp553=)
c.1858G= (p.Asp620=)
c.1894G= (p.Asp632=)
c.1870G= (p.Asp624=)
13g.108209411C>GCA388615679LIG4c.1657G>C (p.Asp553His)
c.1858G>C (p.Asp620His)
c.1894G>C (p.Asp632His)
c.1870G>C (p.Asp624His)
13g.108209411C>TCA388615681LIG4c.1657G>A (p.Asp553Asn)
c.1858G>A (p.Asp620Asn)
c.1894G>A (p.Asp632Asn)
c.1870G>A (p.Asp624Asn)
 dbSNP
13g.108209412A>CCA484975751LIG4c.1656T>G (p.Gly552=)
c.1857T>G (p.Gly619=)
c.1893T>G (p.Gly631=)
c.1869T>G (p.Gly623=)
 ClinVar
13g.108209412A>GCA484975752LIG4c.1656T>C (p.Gly552=)
c.1857T>C (p.Gly619=)
c.1893T>C (p.Gly631=)
c.1869T>C (p.Gly623=)
13g.108209412A>TCA484975753LIG4c.1656T>A (p.Gly552=)
c.1857T>A (p.Gly619=)
c.1893T>A (p.Gly631=)
c.1869T>A (p.Gly623=)
13g.108209413C>ACA388615683LIG4c.1655G>T (p.Gly552Val)
c.1856G>T (p.Gly619Val)
c.1892G>T (p.Gly631Val)
c.1868G>T (p.Gly623Val)
13g.108209413C>GCA388615685LIG4c.1655G>C (p.Gly552Ala)
c.1856G>C (p.Gly619Ala)
c.1892G>C (p.Gly631Ala)
c.1868G>C (p.Gly623Ala)
13g.108209413C>TCA388615687LIG4c.1655G>A (p.Gly552Asp)
c.1856G>A (p.Gly619Asp)
c.1892G>A (p.Gly631Asp)
c.1868G>A (p.Gly623Asp)
13g.108209414C>ACA388615690LIG4c.1654G>T (p.Gly552Cys)
c.1855G>T (p.Gly619Cys)
c.1891G>T (p.Gly631Cys)
c.1867G>T (p.Gly623Cys)
13g.108209414C=CA2117794185LIG4c.1654G= (p.Gly552=)
c.1855G= (p.Gly619=)
c.1891G= (p.Gly631=)
c.1867G= (p.Gly623=)
13g.108209414C>GCA388615691LIG4c.1654G>C (p.Gly552Arg)
c.1855G>C (p.Gly619Arg)
c.1891G>C (p.Gly631Arg)
c.1867G>C (p.Gly623Arg)
13g.108209414C>TCA7043603LIG4c.1654G>A (p.Gly552Ser)
c.1855G>A (p.Gly619Ser)
c.1891G>A (p.Gly631Ser)
c.1867G>A (p.Gly623Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209415A>CCA484975763LIG4c.1653T>G (p.Gly551=)
c.1854T>G (p.Gly618=)
c.1890T>G (p.Gly630=)
c.1866T>G (p.Gly622=)
13g.108209415A>GCA484975761LIG4c.1653T>C (p.Gly551=)
c.1854T>C (p.Gly618=)
c.1890T>C (p.Gly630=)
c.1866T>C (p.Gly622=)
13g.108209415A>TCA484975762LIG4c.1653T>A (p.Gly551=)
c.1854T>A (p.Gly618=)
c.1890T>A (p.Gly630=)
c.1866T>A (p.Gly622=)
13g.108209416C>ACA388615693LIG4c.1652G>T (p.Gly551Val)
c.1853G>T (p.Gly618Val)
c.1889G>T (p.Gly630Val)
c.1865G>T (p.Gly622Val)
13g.108209416C>GCA388615694LIG4c.1652G>C (p.Gly551Ala)
c.1853G>C (p.Gly618Ala)
c.1889G>C (p.Gly630Ala)
c.1865G>C (p.Gly622Ala)
 gnomAD v4
13g.108209416C>TCA388615695LIG4c.1652G>A (p.Gly551Asp)
c.1853G>A (p.Gly618Asp)
c.1889G>A (p.Gly630Asp)
c.1865G>A (p.Gly622Asp)
13g.108209417C>ACA388615696LIG4c.1651G>T (p.Gly551Cys)
c.1852G>T (p.Gly618Cys)
c.1888G>T (p.Gly630Cys)
c.1864G>T (p.Gly622Cys)
13g.108209417C>GCA388615698LIG4c.1651G>C (p.Gly551Arg)
c.1852G>C (p.Gly618Arg)
c.1888G>C (p.Gly630Arg)
c.1864G>C (p.Gly622Arg)
13g.108209417C>TCA388615697LIG4c.1651G>A (p.Gly551Ser)
c.1852G>A (p.Gly618Ser)
c.1888G>A (p.Gly630Ser)
c.1864G>A (p.Gly622Ser)
13g.108209418T>ACA484975767LIG4c.1650A>T (p.Ile550=)
c.1851A>T (p.Ile617=)
c.1887A>T (p.Ile629=)
c.1863A>T (p.Ile621=)
13g.108209418T>CCA388615700LIG4c.1650A>G (p.Ile550Met)
c.1851A>G (p.Ile617Met)
c.1887A>G (p.Ile629Met)
c.1863A>G (p.Ile621Met)
13g.108209418T>GCA484975770LIG4c.1650A>C (p.Ile550=)
c.1851A>C (p.Ile617=)
c.1887A>C (p.Ile629=)
c.1863A>C (p.Ile621=)
13g.108209419A>CCA388615703LIG4c.1649T>G (p.Ile550Arg)
c.1850T>G (p.Ile617Arg)
c.1886T>G (p.Ile629Arg)
c.1862T>G (p.Ile621Arg)
13g.108209419A>GCA388615705LIG4c.1649T>C (p.Ile550Thr)
c.1850T>C (p.Ile617Thr)
c.1886T>C (p.Ile629Thr)
c.1862T>C (p.Ile621Thr)
13g.108209419A>TCA388615706LIG4c.1649T>A (p.Ile550Lys)
c.1850T>A (p.Ile617Lys)
c.1886T>A (p.Ile629Lys)
c.1862T>A (p.Ile621Lys)
13g.108209420T>ACA388615708LIG4c.1648A>T (p.Ile550Leu)
c.1849A>T (p.Ile617Leu)
c.1885A>T (p.Ile629Leu)
c.1861A>T (p.Ile621Leu)
13g.108209420T>CCA388615710LIG4c.1648A>G (p.Ile550Val)
c.1849A>G (p.Ile617Val)
c.1885A>G (p.Ile629Val)
c.1861A>G (p.Ile621Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.108209420T>GCA388615712LIG4c.1648A>C (p.Ile550Leu)
c.1849A>C (p.Ile617Leu)
c.1885A>C (p.Ile629Leu)
c.1861A>C (p.Ile621Leu)
13g.108209420T=CA2117794186LIG4c.1648A= (p.Ile550=)
c.1849A= (p.Ile617=)
c.1885A= (p.Ile629=)
c.1861A= (p.Ile621=)
13g.108209421A>CCA388615715LIG4c.1647T>G (p.Tyr549Ter)
c.1848T>G (p.Tyr616Ter)
c.1884T>G (p.Tyr628Ter)
c.1860T>G (p.Tyr620Ter)
13g.108209421A>GCA484975776LIG4c.1647T>C (p.Tyr549=)
c.1848T>C (p.Tyr616=)
c.1884T>C (p.Tyr628=)
c.1860T>C (p.Tyr620=)
13g.108209421A>TCA388615719LIG4c.1647T>A (p.Tyr549Ter)
c.1848T>A (p.Tyr616Ter)
c.1884T>A (p.Tyr628Ter)
c.1860T>A (p.Tyr620Ter)
13g.108209422T>ACA388615724LIG4c.1646A>T (p.Tyr549Phe)
c.1847A>T (p.Tyr616Phe)
c.1883A>T (p.Tyr628Phe)
c.1859A>T (p.Tyr620Phe)
13g.108209422T>CCA7043604LIG4c.1646A>G (p.Tyr549Cys)
c.1847A>G (p.Tyr616Cys)
c.1883A>G (p.Tyr628Cys)
c.1859A>G (p.Tyr620Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209422T>GCA388615722LIG4c.1646A>C (p.Tyr549Ser)
c.1847A>C (p.Tyr616Ser)
c.1883A>C (p.Tyr628Ser)
c.1859A>C (p.Tyr620Ser)
13g.108209422T=CA2117794187LIG4c.1646A= (p.Tyr549=)
c.1847A= (p.Tyr616=)
c.1883A= (p.Tyr628=)
c.1859A= (p.Tyr620=)
13g.108209423A>CCA388615727LIG4c.1645T>G (p.Tyr549Asp)
c.1846T>G (p.Tyr616Asp)
c.1882T>G (p.Tyr628Asp)
c.1858T>G (p.Tyr620Asp)
13g.108209423A>GCA388615729LIG4c.1645T>C (p.Tyr549His)
c.1846T>C (p.Tyr616His)
c.1882T>C (p.Tyr628His)
c.1858T>C (p.Tyr620His)
 gnomAD v4
13g.108209423A>TCA388615731LIG4c.1645T>A (p.Tyr549Asn)
c.1846T>A (p.Tyr616Asn)
c.1882T>A (p.Tyr628Asn)
c.1858T>A (p.Tyr620Asn)
13g.108209424A>CCA484975785LIG4c.1644T>G (p.Leu548=)
c.1845T>G (p.Leu615=)
c.1881T>G (p.Leu627=)
c.1857T>G (p.Leu619=)
13g.108209424A>GCA484975787LIG4c.1644T>C (p.Leu548=)
c.1845T>C (p.Leu615=)
c.1881T>C (p.Leu627=)
c.1857T>C (p.Leu619=)
13g.108209424A>TCA484975789LIG4c.1644T>A (p.Leu548=)
c.1845T>A (p.Leu615=)
c.1881T>A (p.Leu627=)
c.1857T>A (p.Leu619=)
 gnomAD v4
13g.108209425A>CCA388615733LIG4c.1643T>G (p.Leu548Arg)
c.1844T>G (p.Leu615Arg)
c.1880T>G (p.Leu627Arg)
c.1856T>G (p.Leu619Arg)
13g.108209425A>GCA388615735LIG4c.1643T>C (p.Leu548Pro)
c.1844T>C (p.Leu615Pro)
c.1880T>C (p.Leu627Pro)
c.1856T>C (p.Leu619Pro)
 gnomAD v4
13g.108209425A>TCA388615737LIG4c.1643T>A (p.Leu548His)
c.1844T>A (p.Leu615His)
c.1880T>A (p.Leu627His)
c.1856T>A (p.Leu619His)
13g.108209426G>ACA388615742LIG4c.1642C>T (p.Leu548Phe)
c.1843C>T (p.Leu615Phe)
c.1879C>T (p.Leu627Phe)
c.1855C>T (p.Leu619Phe)
13g.108209426G>CCA388615739LIG4c.1642C>G (p.Leu548Val)
c.1843C>G (p.Leu615Val)
c.1879C>G (p.Leu627Val)
c.1855C>G (p.Leu619Val)
13g.108209426G>TCA388615741LIG4c.1642C>A (p.Leu548Ile)
c.1843C>A (p.Leu615Ile)
c.1879C>A (p.Leu627Ile)
c.1855C>A (p.Leu619Ile)
13g.108209426_108209427insTCA2623644109LIG4c.1641_1642insA (p.Leu548ThrfsTer6)
c.1842_1843insA (p.Leu615ThrfsTer6)
c.1878_1879insA (p.Leu627ThrfsTer6)
c.1854_1855insA (p.Leu619ThrfsTer6)
 gnomAD v4
13g.108209427G>ACA484975797LIG4c.1641C>T (p.His547=)
c.1842C>T (p.His614=)
c.1878C>T (p.His626=)
c.1854C>T (p.His618=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108209427G>CCA388615744LIG4c.1641C>G (p.His547Gln)
c.1842C>G (p.His614Gln)
c.1878C>G (p.His626Gln)
c.1854C>G (p.His618Gln)
13g.108209427G=CA2117794188LIG4c.1641C= (p.His547=)
c.1842C= (p.His614=)
c.1878C= (p.His626=)
c.1854C= (p.His618=)
13g.108209427G>TCA388615745LIG4c.1641C>A (p.His547Gln)
c.1842C>A (p.His614Gln)
c.1878C>A (p.His626Gln)
c.1854C>A (p.His618Gln)
13g.108209428T>ACA388615747LIG4c.1640A>T (p.His547Leu)
c.1841A>T (p.His614Leu)
c.1877A>T (p.His626Leu)
c.1853A>T (p.His618Leu)
13g.108209428T>CCA388615749LIG4c.1640A>G (p.His547Arg)
c.1841A>G (p.His614Arg)
c.1877A>G (p.His626Arg)
c.1853A>G (p.His618Arg)
13g.108209428T>GCA388615751LIG4c.1640A>C (p.His547Pro)
c.1841A>C (p.His614Pro)
c.1877A>C (p.His626Pro)
c.1853A>C (p.His618Pro)
13g.108209429G>ACA388615754LIG4c.1639C>T (p.His547Tyr)
c.1840C>T (p.His614Tyr)
c.1876C>T (p.His626Tyr)
c.1852C>T (p.His618Tyr)
13g.108209429G>CCA388615763LIG4c.1639C>G (p.His547Asp)
c.1840C>G (p.His614Asp)
c.1876C>G (p.His626Asp)
c.1852C>G (p.His618Asp)
13g.108209429G>TCA388615761LIG4c.1639C>A (p.His547Asn)
c.1840C>A (p.His614Asn)
c.1876C>A (p.His626Asn)
c.1852C>A (p.His618Asn)
13g.108209430T>ACA7043605LIG4c.1638A>T (p.Lys546Asn)
c.1839A>T (p.Lys613Asn)
c.1875A>T (p.Lys625Asn)
c.1851A>T (p.Lys617Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209430T>CCA484975804LIG4c.1638A>G (p.Lys546=)
c.1839A>G (p.Lys613=)
c.1875A>G (p.Lys625=)
c.1851A>G (p.Lys617=)
13g.108209430T>GCA388615766LIG4c.1638A>C (p.Lys546Asn)
c.1839A>C (p.Lys613Asn)
c.1875A>C (p.Lys625Asn)
c.1851A>C (p.Lys617Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.108209430T=CA2117794189LIG4c.1638A= (p.Lys546=)
c.1839A= (p.Lys613=)
c.1875A= (p.Lys625=)
c.1851A= (p.Lys617=)
13g.108209431T>ACA388615768LIG4c.1637A>T (p.Lys546Ile)
c.1838A>T (p.Lys613Ile)
c.1874A>T (p.Lys625Ile)
c.1850A>T (p.Lys617Ile)
13g.108209431T>CCA388615769LIG4c.1637A>G (p.Lys546Arg)
c.1838A>G (p.Lys613Arg)
c.1874A>G (p.Lys625Arg)
c.1850A>G (p.Lys617Arg)
13g.108209431T>GCA388615771LIG4c.1637A>C (p.Lys546Thr)
c.1838A>C (p.Lys613Thr)
c.1874A>C (p.Lys625Thr)
c.1850A>C (p.Lys617Thr)
13g.108209431_108209435delinsTTAGACA2117794190LIG4c.1633_1637delinsTCTAA (p.Ser545=)
c.1834_1838delinsTCTAA (p.Ser612=)
c.1870_1874delinsTCTAA (p.Ser624=)
c.1846_1850delinsTCTAA (p.Ser616=)
13g.108209432T>ACA388615774LIG4c.1636A>T (p.Lys546Ter)
c.1837A>T (p.Lys613Ter)
c.1873A>T (p.Lys625Ter)
c.1849A>T (p.Lys617Ter)
13g.108209432T>CCA388615775LIG4c.1636A>G (p.Lys546Glu)
c.1837A>G (p.Lys613Glu)
c.1873A>G (p.Lys625Glu)
c.1849A>G (p.Lys617Glu)
 gnomAD v4
13g.108209432T>GCA388615777LIG4c.1636A>C (p.Lys546Gln)
c.1837A>C (p.Lys613Gln)
c.1873A>C (p.Lys625Gln)
c.1849A>C (p.Lys617Gln)
13g.108209433_108209436delCA919354816LIG4c.1633_1636del (p.Ser545AsnfsTer5)
c.1834_1837del (p.Ser612AsnfsTer5)
c.1870_1873del (p.Ser624AsnfsTer5)
c.1846_1849del (p.Ser616AsnfsTer5)
 dbSNP
13g.108209433A=CA2117794191LIG4c.1635T= (p.Ser545=)
c.1836T= (p.Ser612=)
c.1872T= (p.Ser624=)
c.1848T= (p.Ser616=)
13g.108209433A>CCA484975813LIG4c.1635T>G (p.Ser545=)
c.1836T>G (p.Ser612=)
c.1872T>G (p.Ser624=)
c.1848T>G (p.Ser616=)
 gnomAD v4
13g.108209433A>GCA256180621LIG4c.1635T>C (p.Ser545=)
c.1836T>C (p.Ser612=)
c.1872T>C (p.Ser624=)
c.1848T>C (p.Ser616=)
 ClinVar dbSNP gnomAD v4
13g.108209433A>TCA484975816LIG4c.1635T>A (p.Ser545=)
c.1836T>A (p.Ser612=)
c.1872T>A (p.Ser624=)
c.1848T>A (p.Ser616=)
13g.108209434G>ACA388615778LIG4c.1634C>T (p.Ser545Phe)
c.1835C>T (p.Ser612Phe)
c.1871C>T (p.Ser624Phe)
c.1847C>T (p.Ser616Phe)
13g.108209434G>CCA256180635LIG4c.1634C>G (p.Ser545Cys)
c.1835C>G (p.Ser612Cys)
c.1871C>G (p.Ser624Cys)
c.1847C>G (p.Ser616Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209434G=CA2117794192LIG4c.1634C= (p.Ser545=)
c.1835C= (p.Ser612=)
c.1871C= (p.Ser624=)
c.1847C= (p.Ser616=)
13g.108209434G>TCA388615781LIG4c.1634C>A (p.Ser545Tyr)
c.1835C>A (p.Ser612Tyr)
c.1871C>A (p.Ser624Tyr)
c.1847C>A (p.Ser616Tyr)
13g.108209435A>CCA388615788LIG4c.1633T>G (p.Ser545Ala)
c.1834T>G (p.Ser612Ala)
c.1870T>G (p.Ser624Ala)
c.1846T>G (p.Ser616Ala)
13g.108209435A>GCA388615785LIG4c.1633T>C (p.Ser545Pro)
c.1834T>C (p.Ser612Pro)
c.1870T>C (p.Ser624Pro)
c.1846T>C (p.Ser616Pro)
13g.108209435A>TCA388615783LIG4c.1633T>A (p.Ser545Thr)
c.1834T>A (p.Ser612Thr)
c.1870T>A (p.Ser624Thr)
c.1846T>A (p.Ser616Thr)
13g.108209436T>ACA484975824LIG4c.1632A>T (p.Ala544=)
c.1833A>T (p.Ala611=)
c.1869A>T (p.Ala623=)
c.1845A>T (p.Ala615=)
13g.108209436T>CCA484975823LIG4c.1632A>G (p.Ala544=)
c.1833A>G (p.Ala611=)
c.1869A>G (p.Ala623=)
c.1845A>G (p.Ala615=)
13g.108209436T>GCA484975825LIG4c.1632A>C (p.Ala544=)
c.1833A>C (p.Ala611=)
c.1869A>C (p.Ala623=)
c.1845A>C (p.Ala615=)
13g.108209437G>ACA388615790LIG4c.1631C>T (p.Ala544Val)
c.1832C>T (p.Ala611Val)
c.1868C>T (p.Ala623Val)
c.1844C>T (p.Ala615Val)
 gnomAD v4
13g.108209437G>CCA388615795LIG4c.1631C>G (p.Ala544Gly)
c.1832C>G (p.Ala611Gly)
c.1868C>G (p.Ala623Gly)
c.1844C>G (p.Ala615Gly)
13g.108209437G>TCA388615792LIG4c.1631C>A (p.Ala544Glu)
c.1832C>A (p.Ala611Glu)
c.1868C>A (p.Ala623Glu)
c.1844C>A (p.Ala615Glu)
13g.108209438C>ACA7043607LIG4c.1630G>T (p.Ala544Ser)
c.1831G>T (p.Ala611Ser)
c.1867G>T (p.Ala623Ser)
c.1843G>T (p.Ala615Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209438C=CA2117794193LIG4c.1630G= (p.Ala544=)
c.1831G= (p.Ala611=)
c.1867G= (p.Ala623=)
c.1843G= (p.Ala615=)
13g.108209438C>GCA388615800LIG4c.1630G>C (p.Ala544Pro)
c.1831G>C (p.Ala611Pro)
c.1867G>C (p.Ala623Pro)
c.1843G>C (p.Ala615Pro)
 gnomAD v4
13g.108209438C>TCA7043606LIG4c.1630G>A (p.Ala544Thr)
c.1831G>A (p.Ala611Thr)
c.1867G>A (p.Ala623Thr)
c.1843G>A (p.Ala615Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108209439G>ACA7043608LIG4c.1629C>T (p.Leu543=)
c.1830C>T (p.Leu610=)
c.1866C>T (p.Leu622=)
c.1842C>T (p.Leu614=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209439G>CCA484975836LIG4c.1629C>G (p.Leu543=)
c.1830C>G (p.Leu610=)
c.1866C>G (p.Leu622=)
c.1842C>G (p.Leu614=)
 gnomAD v4
13g.108209439G=CA2117794194LIG4c.1629C= (p.Leu543=)
c.1830C= (p.Leu610=)
c.1866C= (p.Leu622=)
c.1842C= (p.Leu614=)
13g.108209439G>TCA484975839LIG4c.1629C>A (p.Leu543=)
c.1830C>A (p.Leu610=)
c.1866C>A (p.Leu622=)
c.1842C>A (p.Leu614=)
13g.108209440A>CCA388615806LIG4c.1628T>G (p.Leu543Arg)
c.1829T>G (p.Leu610Arg)
c.1865T>G (p.Leu622Arg)
c.1841T>G (p.Leu614Arg)
13g.108209440A>GCA388615808LIG4c.1628T>C (p.Leu543Pro)
c.1829T>C (p.Leu610Pro)
c.1865T>C (p.Leu622Pro)
c.1841T>C (p.Leu614Pro)
13g.108209440A>TCA388615811LIG4c.1628T>A (p.Leu543His)
c.1829T>A (p.Leu610His)
c.1865T>A (p.Leu622His)
c.1841T>A (p.Leu614His)
13g.108209441G>ACA388615814LIG4c.1627C>T (p.Leu543Phe)
c.1828C>T (p.Leu610Phe)
c.1864C>T (p.Leu622Phe)
c.1840C>T (p.Leu614Phe)
13g.108209441G>CCA388615817LIG4c.1627C>G (p.Leu543Val)
c.1828C>G (p.Leu610Val)
c.1864C>G (p.Leu622Val)
c.1840C>G (p.Leu614Val)
13g.108209441G=CA2117794195LIG4c.1627C= (p.Leu543=)
c.1828C= (p.Leu610=)
c.1864C= (p.Leu622=)
c.1840C= (p.Leu614=)
13g.108209441G>TCA7043609LIG4c.1627C>A (p.Leu543Ile)
c.1828C>A (p.Leu610Ile)
c.1864C>A (p.Leu622Ile)
c.1840C>A (p.Leu614Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209442C>ACA388615820LIG4c.1626G>T (p.Lys542Asn)
c.1827G>T (p.Lys609Asn)
c.1863G>T (p.Lys621Asn)
c.1839G>T (p.Lys613Asn)
13g.108209442C>GCA388615823LIG4c.1626G>C (p.Lys542Asn)
c.1827G>C (p.Lys609Asn)
c.1863G>C (p.Lys621Asn)
c.1839G>C (p.Lys613Asn)
13g.108209442C>TCA484975844LIG4c.1626G>A (p.Lys542=)
c.1827G>A (p.Lys609=)
c.1863G>A (p.Lys621=)
c.1839G>A (p.Lys613=)
13g.108209443T>ACA388615829LIG4c.1625A>T (p.Lys542Met)
c.1826A>T (p.Lys609Met)
c.1862A>T (p.Lys621Met)
c.1838A>T (p.Lys613Met)
13g.108209443T>CCA388615833LIG4c.1625A>G (p.Lys542Arg)
c.1826A>G (p.Lys609Arg)
c.1862A>G (p.Lys621Arg)
c.1838A>G (p.Lys613Arg)
13g.108209443T>GCA388615831LIG4c.1625A>C (p.Lys542Thr)
c.1826A>C (p.Lys609Thr)
c.1862A>C (p.Lys621Thr)
c.1838A>C (p.Lys613Thr)
13g.108209444T>ACA388615836LIG4c.1624A>T (p.Lys542Ter)
c.1825A>T (p.Lys609Ter)
c.1861A>T (p.Lys621Ter)
c.1837A>T (p.Lys613Ter)
13g.108209444T>CCA388615839LIG4c.1624A>G (p.Lys542Glu)
c.1825A>G (p.Lys609Glu)
c.1861A>G (p.Lys621Glu)
c.1837A>G (p.Lys613Glu)
13g.108209444T>GCA388615841LIG4c.1624A>C (p.Lys542Gln)
c.1825A>C (p.Lys609Gln)
c.1861A>C (p.Lys621Gln)
c.1837A>C (p.Lys613Gln)
 dbSNP gnomAD v2 gnomAD v4
13g.108209444T=CA2117794196LIG4c.1624A= (p.Lys542=)
c.1825A= (p.Lys609=)
c.1861A= (p.Lys621=)
c.1837A= (p.Lys613=)
13g.108209445A=CA2117794197LIG4c.1623T= (p.Gly541=)
c.1824T= (p.Gly608=)
c.1860T= (p.Gly620=)
c.1836T= (p.Gly612=)
13g.108209445A>CCA484975856LIG4c.1623T>G (p.Gly541=)
c.1824T>G (p.Gly608=)
c.1860T>G (p.Gly620=)
c.1836T>G (p.Gly612=)
 gnomAD v4
13g.108209445A>GCA484975857LIG4c.1623T>C (p.Gly541=)
c.1824T>C (p.Gly608=)
c.1860T>C (p.Gly620=)
c.1836T>C (p.Gly612=)
 dbSNP
13g.108209445A>TCA484975858LIG4c.1623T>A (p.Gly541=)
c.1824T>A (p.Gly608=)
c.1860T>A (p.Gly620=)
c.1836T>A (p.Gly612=)
13g.108209446C>ACA388615845LIG4c.1622G>T (p.Gly541Val)
c.1823G>T (p.Gly608Val)
c.1859G>T (p.Gly620Val)
c.1835G>T (p.Gly612Val)
13g.108209446C>GCA388615846LIG4c.1622G>C (p.Gly541Ala)
c.1823G>C (p.Gly608Ala)
c.1859G>C (p.Gly620Ala)
c.1835G>C (p.Gly612Ala)
13g.108209446C>TCA388615847LIG4c.1622G>A (p.Gly541Asp)
c.1823G>A (p.Gly608Asp)
c.1859G>A (p.Gly620Asp)
c.1835G>A (p.Gly612Asp)
13g.108209447delCA2537553755LIG4c.1622del (p.Gly541ValfsTer10)
c.1823del (p.Gly608ValfsTer10)
c.1859del (p.Gly620ValfsTer10)
c.1835del (p.Gly612ValfsTer10)
13g.108209447C>ACA388615850LIG4c.1621G>T (p.Gly541Cys)
c.1822G>T (p.Gly608Cys)
c.1858G>T (p.Gly620Cys)
c.1834G>T (p.Gly612Cys)
13g.108209447C>GCA388615852LIG4c.1621G>C (p.Gly541Arg)
c.1822G>C (p.Gly608Arg)
c.1858G>C (p.Gly620Arg)
c.1834G>C (p.Gly612Arg)
13g.108209447C>TCA388615854LIG4c.1621G>A (p.Gly541Ser)
c.1822G>A (p.Gly608Ser)
c.1858G>A (p.Gly620Ser)
c.1834G>A (p.Gly612Ser)
13g.108209448A>CCA484975867LIG4c.1620T>G (p.Ser540=)
c.1821T>G (p.Ser607=)
c.1857T>G (p.Ser619=)
c.1833T>G (p.Ser611=)
13g.108209448A>GCA484975869LIG4c.1620T>C (p.Ser540=)
c.1821T>C (p.Ser607=)
c.1857T>C (p.Ser619=)
c.1833T>C (p.Ser611=)
 COSMIC
13g.108209448A>TCA484975879LIG4c.1620T>A (p.Ser540=)
c.1821T>A (p.Ser607=)
c.1857T>A (p.Ser619=)
c.1833T>A (p.Ser611=)
13g.108209449G>ACA388615858LIG4c.1619C>T (p.Ser540Phe)
c.1820C>T (p.Ser607Phe)
c.1856C>T (p.Ser619Phe)
c.1832C>T (p.Ser611Phe)
13g.108209449G>CCA388615861LIG4c.1619C>G (p.Ser540Cys)
c.1820C>G (p.Ser607Cys)
c.1856C>G (p.Ser619Cys)
c.1832C>G (p.Ser611Cys)
13g.108209449G>TCA388615857LIG4c.1619C>A (p.Ser540Tyr)
c.1820C>A (p.Ser607Tyr)
c.1856C>A (p.Ser619Tyr)
c.1832C>A (p.Ser611Tyr)
13g.108209450A>CCA388615864LIG4c.1618T>G (p.Ser540Ala)
c.1819T>G (p.Ser607Ala)
c.1855T>G (p.Ser619Ala)
c.1831T>G (p.Ser611Ala)
13g.108209450A>GCA388615865LIG4c.1618T>C (p.Ser540Pro)
c.1819T>C (p.Ser607Pro)
c.1855T>C (p.Ser619Pro)
c.1831T>C (p.Ser611Pro)
13g.108209450A>TCA388615867LIG4c.1618T>A (p.Ser540Thr)
c.1819T>A (p.Ser607Thr)
c.1855T>A (p.Ser619Thr)
c.1831T>A (p.Ser611Thr)
13g.108209451T>ACA484975884LIG4c.1617A>T (p.Ala539=)
c.1818A>T (p.Ala606=)
c.1854A>T (p.Ala618=)
c.1830A>T (p.Ala610=)
13g.108209451T>CCA484975886LIG4c.1617A>G (p.Ala539=)
c.1818A>G (p.Ala606=)
c.1854A>G (p.Ala618=)
c.1830A>G (p.Ala610=)
 gnomAD v4
13g.108209451T>GCA484975887LIG4c.1617A>C (p.Ala539=)
c.1818A>C (p.Ala606=)
c.1854A>C (p.Ala618=)
c.1830A>C (p.Ala610=)
13g.108209452G>ACA388615871LIG4c.1616C>T (p.Ala539Val)
c.1817C>T (p.Ala606Val)
c.1853C>T (p.Ala618Val)
c.1829C>T (p.Ala610Val)
13g.108209452G>CCA388615875LIG4c.1616C>G (p.Ala539Gly)
c.1817C>G (p.Ala606Gly)
c.1853C>G (p.Ala618Gly)
c.1829C>G (p.Ala610Gly)
13g.108209452G>TCA388615876LIG4c.1616C>A (p.Ala539Glu)
c.1817C>A (p.Ala606Glu)
c.1853C>A (p.Ala618Glu)
c.1829C>A (p.Ala610Glu)
13g.108209453C>ACA388615885LIG4c.1615G>T (p.Ala539Ser)
c.1816G>T (p.Ala606Ser)
c.1852G>T (p.Ala618Ser)
c.1828G>T (p.Ala610Ser)
13g.108209453C=CA2117794198LIG4c.1615G= (p.Ala539=)
c.1816G= (p.Ala606=)
c.1852G= (p.Ala618=)
c.1828G= (p.Ala610=)
13g.108209453C>GCA388615882LIG4c.1615G>C (p.Ala539Pro)
c.1816G>C (p.Ala606Pro)
c.1852G>C (p.Ala618Pro)
c.1828G>C (p.Ala610Pro)
13g.108209453C>TCA388615883LIG4c.1615G>A (p.Ala539Thr)
c.1816G>A (p.Ala606Thr)
c.1852G>A (p.Ala618Thr)
c.1828G>A (p.Ala610Thr)
 dbSNP gnomAD v3 gnomAD v4
13g.108209454C>ACA388615890LIG4c.1614G>T (p.Lys538Asn)
c.1815G>T (p.Lys605Asn)
c.1851G>T (p.Lys617Asn)
c.1827G>T (p.Lys609Asn)
13g.108209454C>GCA388615893LIG4c.1614G>C (p.Lys538Asn)
c.1815G>C (p.Lys605Asn)
c.1851G>C (p.Lys617Asn)
c.1827G>C (p.Lys609Asn)
13g.108209454C>TCA484975894LIG4c.1614G>A (p.Lys538=)
c.1815G>A (p.Lys605=)
c.1851G>A (p.Lys617=)
c.1827G>A (p.Lys609=)
13g.108209455T>ACA388615896LIG4c.1613A>T (p.Lys538Met)
c.1814A>T (p.Lys605Met)
c.1850A>T (p.Lys617Met)
c.1826A>T (p.Lys609Met)
 gnomAD v4
13g.108209455T>CCA388615898LIG4c.1613A>G (p.Lys538Arg)
c.1814A>G (p.Lys605Arg)
c.1850A>G (p.Lys617Arg)
c.1826A>G (p.Lys609Arg)
13g.108209455T>GCA388615902LIG4c.1613A>C (p.Lys538Thr)
c.1814A>C (p.Lys605Thr)
c.1850A>C (p.Lys617Thr)
c.1826A>C (p.Lys609Thr)
13g.108209456T>ACA388615904LIG4c.1612A>T (p.Lys538Ter)
c.1813A>T (p.Lys605Ter)
c.1849A>T (p.Lys617Ter)
c.1825A>T (p.Lys609Ter)
13g.108209456T>CCA388615908LIG4c.1612A>G (p.Lys538Glu)
c.1813A>G (p.Lys605Glu)
c.1849A>G (p.Lys617Glu)
c.1825A>G (p.Lys609Glu)
 dbSNP gnomAD v2 gnomAD v4
13g.108209456T>GCA388615905LIG4c.1612A>C (p.Lys538Gln)
c.1813A>C (p.Lys605Gln)
c.1849A>C (p.Lys617Gln)
c.1825A>C (p.Lys609Gln)
13g.108209456T=CA2117794199LIG4c.1612A= (p.Lys538=)
c.1813A= (p.Lys605=)
c.1849A= (p.Lys617=)
c.1825A= (p.Lys609=)
13g.108209457C>ACA484975897LIG4c.1611G>T (p.Gly537=)
c.1812G>T (p.Gly604=)
c.1848G>T (p.Gly616=)
c.1824G>T (p.Gly608=)
13g.108209457C=CA2117794200LIG4c.1611G= (p.Gly537=)
c.1812G= (p.Gly604=)
c.1848G= (p.Gly616=)
c.1824G= (p.Gly608=)
13g.108209457C>GCA484975896LIG4c.1611G>C (p.Gly537=)
c.1812G>C (p.Gly604=)
c.1848G>C (p.Gly616=)
c.1824G>C (p.Gly608=)
13g.108209457C>TCA7043610LIG4c.1611G>A (p.Gly537=)
c.1812G>A (p.Gly604=)
c.1848G>A (p.Gly616=)
c.1824G>A (p.Gly608=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209458C>ACA388615911LIG4c.1610G>T (p.Gly537Val)
c.1811G>T (p.Gly604Val)
c.1847G>T (p.Gly616Val)
c.1823G>T (p.Gly608Val)
13g.108209458C>GCA388615913LIG4c.1610G>C (p.Gly537Ala)
c.1811G>C (p.Gly604Ala)
c.1847G>C (p.Gly616Ala)
c.1823G>C (p.Gly608Ala)
13g.108209458C>TCA388615914LIG4c.1610G>A (p.Gly537Glu)
c.1811G>A (p.Gly604Glu)
c.1847G>A (p.Gly616Glu)
c.1823G>A (p.Gly608Glu)
13g.108209459C>ACA388615917LIG4c.1609G>T (p.Gly537Trp)
c.1810G>T (p.Gly604Trp)
c.1846G>T (p.Gly616Trp)
c.1822G>T (p.Gly608Trp)
13g.108209459C=CA2117794201LIG4c.1609G= (p.Gly537=)
c.1810G= (p.Gly604=)
c.1846G= (p.Gly616=)
c.1822G= (p.Gly608=)
13g.108209459C>GCA388615918LIG4c.1609G>C (p.Gly537Arg)
c.1810G>C (p.Gly604Arg)
c.1846G>C (p.Gly616Arg)
c.1822G>C (p.Gly608Arg)
13g.108209459C>TCA388615921LIG4c.1609G>A (p.Gly537Arg)
c.1810G>A (p.Gly604Arg)
c.1846G>A (p.Gly616Arg)
c.1822G>A (p.Gly608Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.108209460C>ACA388615922LIG4c.1608G>T (p.Arg536Ser)
c.1809G>T (p.Arg603Ser)
c.1845G>T (p.Arg615Ser)
c.1821G>T (p.Arg607Ser)
13g.108209460C>GCA388615926LIG4c.1608G>C (p.Arg536Ser)
c.1809G>C (p.Arg603Ser)
c.1845G>C (p.Arg615Ser)
c.1821G>C (p.Arg607Ser)
13g.108209460C>TCA484975905LIG4c.1608G>A (p.Arg536=)
c.1809G>A (p.Arg603=)
c.1845G>A (p.Arg615=)
c.1821G>A (p.Arg607=)
 ClinVar
13g.108209461C>ACA256180649LIG4c.1607G>T (p.Arg536Met)
c.1808G>T (p.Arg603Met)
c.1844G>T (p.Arg615Met)
c.1820G>T (p.Arg607Met)
 dbSNP gnomAD v4
13g.108209461C=CA2117794202LIG4c.1607G= (p.Arg536=)
c.1808G= (p.Arg603=)
c.1844G= (p.Arg615=)
c.1820G= (p.Arg607=)
13g.108209461C>GCA388615930LIG4c.1607G>C (p.Arg536Thr)
c.1808G>C (p.Arg603Thr)
c.1844G>C (p.Arg615Thr)
c.1820G>C (p.Arg607Thr)
 dbSNP gnomAD v3 gnomAD v4
13g.108209461C>TCA256180658LIG4c.1607G>A (p.Arg536Lys)
c.1808G>A (p.Arg603Lys)
c.1844G>A (p.Arg615Lys)
c.1820G>A (p.Arg607Lys)
 dbSNP
13g.108209461_108209462delinsCTCA2117794203LIG4c.1606_1607delinsAG (p.Arg536=)
c.1807_1808delinsAG (p.Arg603=)
c.1843_1844delinsAG (p.Arg615=)
c.1819_1820delinsAG (p.Arg607=)
13g.108209462delCA694835368LIG4c.1606del (p.Arg536GlyfsTer15)
c.1807del (p.Arg603GlyfsTer15)
c.1843del (p.Arg615GlyfsTer15)
c.1819del (p.Arg607GlyfsTer15)
 dbSNP gnomAD v3 gnomAD v4
13g.108209462T>ACA7043611LIG4c.1606A>T (p.Arg536Trp)
c.1807A>T (p.Arg603Trp)
c.1843A>T (p.Arg615Trp)
c.1819A>T (p.Arg607Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209462T>CCA388615934LIG4c.1606A>G (p.Arg536Gly)
c.1807A>G (p.Arg603Gly)
c.1843A>G (p.Arg615Gly)
c.1819A>G (p.Arg607Gly)
13g.108209462T>GCA484975909LIG4c.1606A>C (p.Arg536=)
c.1807A>C (p.Arg603=)
c.1843A>C (p.Arg615=)
c.1819A>C (p.Arg607=)
13g.108209462T=CA2117794204LIG4c.1606A= (p.Arg536=)
c.1807A= (p.Arg603=)
c.1843A= (p.Arg615=)
c.1819A= (p.Arg607=)
13g.108209462_108209463delinsTACA2117794205LIG4c.1605_1606delinsTA (p.Leu535=)
c.1806_1807delinsTA (p.Leu602=)
c.1842_1843delinsTA (p.Leu614=)
c.1818_1819delinsTA (p.Leu606=)
13g.108209463A>CCA484975911LIG4c.1605T>G (p.Leu535=)
c.1806T>G (p.Leu602=)
c.1842T>G (p.Leu614=)
c.1818T>G (p.Leu606=)
13g.108209463A>GCA484975913LIG4c.1605T>C (p.Leu535=)
c.1806T>C (p.Leu602=)
c.1842T>C (p.Leu614=)
c.1818T>C (p.Leu606=)
13g.108209463A>TCA484975917LIG4c.1605T>A (p.Leu535=)
c.1806T>A (p.Leu602=)
c.1842T>A (p.Leu614=)
c.1818T>A (p.Leu606=)
13g.108209464delCA960045304LIG4c.1605del (p.Arg536GlyfsTer15)
c.1806del (p.Arg603GlyfsTer15)
c.1842del (p.Arg615GlyfsTer15)
c.1818del (p.Arg607GlyfsTer15)
 dbSNP gnomAD v3 gnomAD v4
13g.108209464A>CCA388615938LIG4c.1604T>G (p.Leu535Arg)
c.1805T>G (p.Leu602Arg)
c.1841T>G (p.Leu614Arg)
c.1817T>G (p.Leu606Arg)
 COSMIC
13g.108209464A>GCA388615940LIG4c.1604T>C (p.Leu535Pro)
c.1805T>C (p.Leu602Pro)
c.1841T>C (p.Leu614Pro)
c.1817T>C (p.Leu606Pro)
13g.108209464A>TCA388615942LIG4c.1604T>A (p.Leu535His)
c.1805T>A (p.Leu602His)
c.1841T>A (p.Leu614His)
c.1817T>A (p.Leu606His)
13g.108209465G>ACA388615946LIG4c.1603C>T (p.Leu535Phe)
c.1804C>T (p.Leu602Phe)
c.1840C>T (p.Leu614Phe)
c.1816C>T (p.Leu606Phe)
13g.108209465G>CCA388615949LIG4c.1603C>G (p.Leu535Val)
c.1804C>G (p.Leu602Val)
c.1840C>G (p.Leu614Val)
c.1816C>G (p.Leu606Val)
13g.108209465G>TCA388615951LIG4c.1603C>A (p.Leu535Ile)
c.1804C>A (p.Leu602Ile)
c.1840C>A (p.Leu614Ile)
c.1816C>A (p.Leu606Ile)
13g.108209466T>ACA388615954LIG4c.1602A>T (p.Gln534His)
c.1803A>T (p.Gln601His)
c.1839A>T (p.Gln613His)
c.1815A>T (p.Gln605His)
13g.108209466T>CCA484975926LIG4c.1602A>G (p.Gln534=)
c.1803A>G (p.Gln601=)
c.1839A>G (p.Gln613=)
c.1815A>G (p.Gln605=)
13g.108209466T>GCA388615956LIG4c.1602A>C (p.Gln534His)
c.1803A>C (p.Gln601His)
c.1839A>C (p.Gln613His)
c.1815A>C (p.Gln605His)
13g.108209467T>ACA388615959LIG4c.1601A>T (p.Gln534Leu)
c.1802A>T (p.Gln601Leu)
c.1838A>T (p.Gln613Leu)
c.1814A>T (p.Gln605Leu)
13g.108209467T>CCA388615963LIG4c.1601A>G (p.Gln534Arg)
c.1802A>G (p.Gln601Arg)
c.1838A>G (p.Gln613Arg)
c.1814A>G (p.Gln605Arg)
13g.108209467T>GCA388615966LIG4c.1601A>C (p.Gln534Pro)
c.1802A>C (p.Gln601Pro)
c.1838A>C (p.Gln613Pro)
c.1814A>C (p.Gln605Pro)
13g.108209468G>ACA388615970LIG4c.1600C>T (p.Gln534Ter)
c.1801C>T (p.Gln601Ter)
c.1837C>T (p.Gln613Ter)
c.1813C>T (p.Gln605Ter)
13g.108209468G>CCA388615972LIG4c.1600C>G (p.Gln534Glu)
c.1801C>G (p.Gln601Glu)
c.1837C>G (p.Gln613Glu)
c.1813C>G (p.Gln605Glu)
13g.108209468G>TCA388615973LIG4c.1600C>A (p.Gln534Lys)
c.1801C>A (p.Gln601Lys)
c.1837C>A (p.Gln613Lys)
c.1813C>A (p.Gln605Lys)
13g.108209469T>ACA388615977LIG4c.1599A>T (p.Glu533Asp)
c.1800A>T (p.Glu600Asp)
c.1836A>T (p.Glu612Asp)
c.1812A>T (p.Glu604Asp)
13g.108209469T>CCA484975934LIG4c.1599A>G (p.Glu533=)
c.1800A>G (p.Glu600=)
c.1836A>G (p.Glu612=)
c.1812A>G (p.Glu604=)
 ClinVar dbSNP gnomAD v4
13g.108209469T>GCA388615976LIG4c.1599A>C (p.Glu533Asp)
c.1800A>C (p.Glu600Asp)
c.1836A>C (p.Glu612Asp)
c.1812A>C (p.Glu604Asp)
13g.108209469T=CA2117794206LIG4c.1599A= (p.Glu533=)
c.1800A= (p.Glu600=)
c.1836A= (p.Glu612=)
c.1812A= (p.Glu604=)
13g.108209470T>ACA388615978LIG4c.1598A>T (p.Glu533Val)
c.1799A>T (p.Glu600Val)
c.1835A>T (p.Glu612Val)
c.1811A>T (p.Glu604Val)
13g.108209470T>CCA388615979LIG4c.1598A>G (p.Glu533Gly)
c.1799A>G (p.Glu600Gly)
c.1835A>G (p.Glu612Gly)
c.1811A>G (p.Glu604Gly)
13g.108209470T>GCA388615980LIG4c.1598A>C (p.Glu533Ala)
c.1799A>C (p.Glu600Ala)
c.1835A>C (p.Glu612Ala)
c.1811A>C (p.Glu604Ala)
13g.108209471C>ACA388615982LIG4c.1597G>T (p.Glu533Ter)
c.1798G>T (p.Glu600Ter)
c.1834G>T (p.Glu612Ter)
c.1810G>T (p.Glu604Ter)
 ClinVar
13g.108209471C=CA2117794207LIG4c.1597G= (p.Glu533=)
c.1798G= (p.Glu600=)
c.1834G= (p.Glu612=)
c.1810G= (p.Glu604=)
13g.108209471C>GCA388615984LIG4c.1597G>C (p.Glu533Gln)
c.1798G>C (p.Glu600Gln)
c.1834G>C (p.Glu612Gln)
c.1810G>C (p.Glu604Gln)
13g.108209471C>TCA209412LIG4c.1597G>A (p.Glu533Lys)
c.1798G>A (p.Glu600Lys)
c.1834G>A (p.Glu612Lys)
c.1810G>A (p.Glu604Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched