Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108209339A>CCA388615274LIG4c.1729T>G (p.Leu577Val)
c.1930T>G (p.Leu644Val)
c.1966T>G (p.Leu656Val)
c.1942T>G (p.Leu648Val)
13g.108209339A>GCA484975381LIG4c.1729T>C (p.Leu577=)
c.1930T>C (p.Leu644=)
c.1966T>C (p.Leu656=)
c.1942T>C (p.Leu648=)
13g.108209339A>TCA388615276LIG4c.1729T>A (p.Leu577Ile)
c.1930T>A (p.Leu644Ile)
c.1966T>A (p.Leu656Ile)
c.1942T>A (p.Leu648Ile)
13g.108209340G>ACA484975385LIG4c.1728C>T (p.His576=)
c.1929C>T (p.His643=)
c.1965C>T (p.His655=)
c.1941C>T (p.His647=)
13g.108209340G>CCA388615279LIG4c.1728C>G (p.His576Gln)
c.1929C>G (p.His643Gln)
c.1965C>G (p.His655Gln)
c.1941C>G (p.His647Gln)
 gnomAD v4
13g.108209340G>TCA388615282LIG4c.1728C>A (p.His576Gln)
c.1929C>A (p.His643Gln)
c.1965C>A (p.His655Gln)
c.1941C>A (p.His647Gln)
13g.108209341delCA2575452314LIG4c.1727del (p.His576ProfsTer2)
c.1928del (p.His643ProfsTer2)
c.1964del (p.His655ProfsTer2)
c.1940del (p.His647ProfsTer2)
 ClinVar gnomAD v4
13g.108209341T>ACA388615285LIG4c.1727A>T (p.His576Leu)
c.1928A>T (p.His643Leu)
c.1964A>T (p.His655Leu)
c.1940A>T (p.His647Leu)
 gnomAD v4
13g.108209341T>CCA7043585LIG4c.1727A>G (p.His576Arg)
c.1928A>G (p.His643Arg)
c.1964A>G (p.His655Arg)
c.1940A>G (p.His647Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209341T>GCA388615299LIG4c.1727A>C (p.His576Pro)
c.1928A>C (p.His643Pro)
c.1964A>C (p.His655Pro)
c.1940A>C (p.His647Pro)
 gnomAD v4
13g.108209341T=CA2117794147LIG4c.1727A= (p.His576=)
c.1928A= (p.His643=)
c.1964A= (p.His655=)
c.1940A= (p.His647=)
13g.108209342G>ACA7043586LIG4c.1726C>T (p.His576Tyr)
c.1927C>T (p.His643Tyr)
c.1963C>T (p.His655Tyr)
c.1939C>T (p.His647Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209342G>CCA388615304LIG4c.1726C>G (p.His576Asp)
c.1927C>G (p.His643Asp)
c.1963C>G (p.His655Asp)
c.1939C>G (p.His647Asp)
13g.108209342G=CA2117794148LIG4c.1726C= (p.His576=)
c.1927C= (p.His643=)
c.1963C= (p.His655=)
c.1939C= (p.His647=)
13g.108209342G>TCA388615307LIG4c.1726C>A (p.His576Asn)
c.1927C>A (p.His643Asn)
c.1963C>A (p.His655Asn)
c.1939C>A (p.His647Asn)
13g.108209343C>ACA388615312LIG4c.1725G>T (p.Glu575Asp)
c.1926G>T (p.Glu642Asp)
c.1962G>T (p.Glu654Asp)
c.1938G>T (p.Glu646Asp)
13g.108209343C>GCA388615316LIG4c.1725G>C (p.Glu575Asp)
c.1926G>C (p.Glu642Asp)
c.1962G>C (p.Glu654Asp)
c.1938G>C (p.Glu646Asp)
13g.108209343C>TCA484975392LIG4c.1725G>A (p.Glu575=)
c.1926G>A (p.Glu642=)
c.1962G>A (p.Glu654=)
c.1938G>A (p.Glu646=)
 gnomAD v4
13g.108209344T>ACA388615331LIG4c.1724A>T (p.Glu575Val)
c.1925A>T (p.Glu642Val)
c.1961A>T (p.Glu654Val)
c.1937A>T (p.Glu646Val)
13g.108209344T>CCA7043587LIG4c.1724A>G (p.Glu575Gly)
c.1925A>G (p.Glu642Gly)
c.1961A>G (p.Glu654Gly)
c.1937A>G (p.Glu646Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209344T>GCA388615324LIG4c.1724A>C (p.Glu575Ala)
c.1925A>C (p.Glu642Ala)
c.1961A>C (p.Glu654Ala)
c.1937A>C (p.Glu646Ala)
13g.108209344T=CA2117794149LIG4c.1724A= (p.Glu575=)
c.1925A= (p.Glu642=)
c.1961A= (p.Glu654=)
c.1937A= (p.Glu646=)
13g.108209345C>ACA388615332LIG4c.1723G>T (p.Glu575Ter)
c.1924G>T (p.Glu642Ter)
c.1960G>T (p.Glu654Ter)
c.1936G>T (p.Glu646Ter)
 gnomAD v4
13g.108209345C>GCA388615336LIG4c.1723G>C (p.Glu575Gln)
c.1924G>C (p.Glu642Gln)
c.1960G>C (p.Glu654Gln)
c.1936G>C (p.Glu646Gln)
13g.108209345C>TCA388615339LIG4c.1723G>A (p.Glu575Lys)
c.1924G>A (p.Glu642Lys)
c.1960G>A (p.Glu654Lys)
c.1936G>A (p.Glu646Lys)
13g.108209346A>CCA388615342LIG4c.1722T>G (p.Ile574Met)
c.1923T>G (p.Ile641Met)
c.1959T>G (p.Ile653Met)
c.1935T>G (p.Ile645Met)
13g.108209346A>GCA484975401LIG4c.1722T>C (p.Ile574=)
c.1923T>C (p.Ile641=)
c.1959T>C (p.Ile653=)
c.1935T>C (p.Ile645=)
 gnomAD v4
13g.108209346A>TCA484975403LIG4c.1722T>A (p.Ile574=)
c.1923T>A (p.Ile641=)
c.1959T>A (p.Ile653=)
c.1935T>A (p.Ile645=)
13g.108209347A=CA2117794150LIG4c.1721T= (p.Ile574=)
c.1922T= (p.Ile641=)
c.1958T= (p.Ile653=)
c.1934T= (p.Ile645=)
13g.108209347A>CCA388615345LIG4c.1721T>G (p.Ile574Ser)
c.1922T>G (p.Ile641Ser)
c.1958T>G (p.Ile653Ser)
c.1934T>G (p.Ile645Ser)
13g.108209347A>GCA388615350LIG4c.1721T>C (p.Ile574Thr)
c.1922T>C (p.Ile641Thr)
c.1958T>C (p.Ile653Thr)
c.1934T>C (p.Ile645Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209347A>TCA388615352LIG4c.1721T>A (p.Ile574Asn)
c.1922T>A (p.Ile641Asn)
c.1958T>A (p.Ile653Asn)
c.1934T>A (p.Ile645Asn)
13g.108209348T>ACA388615364LIG4c.1720A>T (p.Ile574Phe)
c.1921A>T (p.Ile641Phe)
c.1957A>T (p.Ile653Phe)
c.1933A>T (p.Ile645Phe)
13g.108209348T>CCA388615369LIG4c.1720A>G (p.Ile574Val)
c.1921A>G (p.Ile641Val)
c.1957A>G (p.Ile653Val)
c.1933A>G (p.Ile645Val)
 gnomAD v4
13g.108209348T>GCA388615371LIG4c.1720A>C (p.Ile574Leu)
c.1921A>C (p.Ile641Leu)
c.1957A>C (p.Ile653Leu)
c.1933A>C (p.Ile645Leu)
13g.108209349A=CA2117794151LIG4c.1719T= (p.Ile573=)
c.1920T= (p.Ile640=)
c.1956T= (p.Ile652=)
c.1932T= (p.Ile644=)
13g.108209349A>CCA388615374LIG4c.1719T>G (p.Ile573Met)
c.1920T>G (p.Ile640Met)
c.1956T>G (p.Ile652Met)
c.1932T>G (p.Ile644Met)
 ClinVar
13g.108209349A>GCA7043588LIG4c.1719T>C (p.Ile573=)
c.1920T>C (p.Ile640=)
c.1956T>C (p.Ile652=)
c.1932T>C (p.Ile644=)
 ClinVar dbSNP ExAC gnomAD v2
13g.108209349A>TCA484975601LIG4c.1719T>A (p.Ile573=)
c.1920T>A (p.Ile640=)
c.1956T>A (p.Ile652=)
c.1932T>A (p.Ile644=)
13g.108209350A>CCA388615392LIG4c.1718T>G (p.Ile573Ser)
c.1919T>G (p.Ile640Ser)
c.1955T>G (p.Ile652Ser)
c.1931T>G (p.Ile644Ser)
13g.108209350A>GCA388615389LIG4c.1718T>C (p.Ile573Thr)
c.1919T>C (p.Ile640Thr)
c.1955T>C (p.Ile652Thr)
c.1931T>C (p.Ile644Thr)
13g.108209350A>TCA388615381LIG4c.1718T>A (p.Ile573Asn)
c.1919T>A (p.Ile640Asn)
c.1955T>A (p.Ile652Asn)
c.1931T>A (p.Ile644Asn)
13g.108209351T>ACA388615397LIG4c.1717A>T (p.Ile573Phe)
c.1918A>T (p.Ile640Phe)
c.1954A>T (p.Ile652Phe)
c.1930A>T (p.Ile644Phe)
 ClinVar dbSNP
13g.108209351T>CCA388615398LIG4c.1717A>G (p.Ile573Val)
c.1918A>G (p.Ile640Val)
c.1954A>G (p.Ile652Val)
c.1930A>G (p.Ile644Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.108209351T>GCA388615399LIG4c.1717A>C (p.Ile573Leu)
c.1918A>C (p.Ile640Leu)
c.1954A>C (p.Ile652Leu)
c.1930A>C (p.Ile644Leu)
13g.108209351T=CA2117794152LIG4c.1717A= (p.Ile573=)
c.1918A= (p.Ile640=)
c.1954A= (p.Ile652=)
c.1930A= (p.Ile644=)
13g.108209352T>ACA484975612LIG4c.1716A>T (p.Gly572=)
c.1917A>T (p.Gly639=)
c.1953A>T (p.Gly651=)
c.1929A>T (p.Gly643=)
13g.108209352T>CCA484975611LIG4c.1716A>G (p.Gly572=)
c.1917A>G (p.Gly639=)
c.1953A>G (p.Gly651=)
c.1929A>G (p.Gly643=)
13g.108209352T>GCA484975610LIG4c.1716A>C (p.Gly572=)
c.1917A>C (p.Gly639=)
c.1953A>C (p.Gly651=)
c.1929A>C (p.Gly643=)
 dbSNP
13g.108209352T=CA2117794153LIG4c.1716A= (p.Gly572=)
c.1917A= (p.Gly639=)
c.1953A= (p.Gly651=)
c.1929A= (p.Gly643=)
13g.108209353C>ACA388615401LIG4c.1715G>T (p.Gly572Val)
c.1916G>T (p.Gly639Val)
c.1952G>T (p.Gly651Val)
c.1928G>T (p.Gly643Val)
13g.108209353C>GCA388615404LIG4c.1715G>C (p.Gly572Ala)
c.1916G>C (p.Gly639Ala)
c.1952G>C (p.Gly651Ala)
c.1928G>C (p.Gly643Ala)
 ClinVar
13g.108209353C>TCA388615407LIG4c.1715G>A (p.Gly572Glu)
c.1916G>A (p.Gly639Glu)
c.1952G>A (p.Gly651Glu)
c.1928G>A (p.Gly643Glu)
13g.108209354C>ACA388615409LIG4c.1714G>T (p.Gly572Ter)
c.1915G>T (p.Gly639Ter)
c.1951G>T (p.Gly651Ter)
c.1927G>T (p.Gly643Ter)
13g.108209354C>GCA388615411LIG4c.1714G>C (p.Gly572Arg)
c.1915G>C (p.Gly639Arg)
c.1951G>C (p.Gly651Arg)
c.1927G>C (p.Gly643Arg)
13g.108209354C>TCA388615412LIG4c.1714G>A (p.Gly572Arg)
c.1915G>A (p.Gly639Arg)
c.1951G>A (p.Gly651Arg)
c.1927G>A (p.Gly643Arg)
 gnomAD v4
13g.108209355A>CCA388615415LIG4c.1713T>G (p.Ile571Met)
c.1914T>G (p.Ile638Met)
c.1950T>G (p.Ile650Met)
c.1926T>G (p.Ile642Met)
13g.108209355A>GCA484975619LIG4c.1713T>C (p.Ile571=)
c.1914T>C (p.Ile638=)
c.1950T>C (p.Ile650=)
c.1926T>C (p.Ile642=)
13g.108209355A>TCA484975620LIG4c.1713T>A (p.Ile571=)
c.1914T>A (p.Ile638=)
c.1950T>A (p.Ile650=)
c.1926T>A (p.Ile642=)
13g.108209356A=CA2117794154LIG4c.1712T= (p.Ile571=)
c.1913T= (p.Ile638=)
c.1949T= (p.Ile650=)
c.1925T= (p.Ile642=)
13g.108209356A>CCA388615418LIG4c.1712T>G (p.Ile571Ser)
c.1913T>G (p.Ile638Ser)
c.1949T>G (p.Ile650Ser)
c.1925T>G (p.Ile642Ser)
13g.108209356A>GCA7043589LIG4c.1712T>C (p.Ile571Thr)
c.1913T>C (p.Ile638Thr)
c.1949T>C (p.Ile650Thr)
c.1925T>C (p.Ile642Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209356A>TCA388615423LIG4c.1712T>A (p.Ile571Asn)
c.1913T>A (p.Ile638Asn)
c.1949T>A (p.Ile650Asn)
c.1925T>A (p.Ile642Asn)
13g.108209357T>ACA388615428LIG4c.1711A>T (p.Ile571Phe)
c.1912A>T (p.Ile638Phe)
c.1948A>T (p.Ile650Phe)
c.1924A>T (p.Ile642Phe)
13g.108209357T>CCA388615427LIG4c.1711A>G (p.Ile571Val)
c.1912A>G (p.Ile638Val)
c.1948A>G (p.Ile650Val)
c.1924A>G (p.Ile642Val)
 gnomAD v4 COSMIC
13g.108209357T>GCA388615426LIG4c.1711A>C (p.Ile571Leu)
c.1912A>C (p.Ile638Leu)
c.1948A>C (p.Ile650Leu)
c.1924A>C (p.Ile642Leu)
13g.108209358A=CA2117794155LIG4c.1710T= (p.Val570=)
c.1911T= (p.Val637=)
c.1947T= (p.Val649=)
c.1923T= (p.Val641=)
13g.108209358A>CCA484975623LIG4c.1710T>G (p.Val570=)
c.1911T>G (p.Val637=)
c.1947T>G (p.Val649=)
c.1923T>G (p.Val641=)
13g.108209358A>GCA7043590LIG4c.1710T>C (p.Val570=)
c.1911T>C (p.Val637=)
c.1947T>C (p.Val649=)
c.1923T>C (p.Val641=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209358A>TCA484975625LIG4c.1710T>A (p.Val570=)
c.1911T>A (p.Val637=)
c.1947T>A (p.Val649=)
c.1923T>A (p.Val641=)
13g.108209359A>CCA388615429LIG4c.1709T>G (p.Val570Gly)
c.1910T>G (p.Val637Gly)
c.1946T>G (p.Val649Gly)
c.1922T>G (p.Val641Gly)
13g.108209359A>GCA388615433LIG4c.1709T>C (p.Val570Ala)
c.1910T>C (p.Val637Ala)
c.1946T>C (p.Val649Ala)
c.1922T>C (p.Val641Ala)
13g.108209359A>TCA388615431LIG4c.1709T>A (p.Val570Asp)
c.1910T>A (p.Val637Asp)
c.1946T>A (p.Val649Asp)
c.1922T>A (p.Val641Asp)
13g.108209360C>ACA388615436LIG4c.1708G>T (p.Val570Phe)
c.1909G>T (p.Val637Phe)
c.1945G>T (p.Val649Phe)
c.1921G>T (p.Val641Phe)
13g.108209360C>GCA388615439LIG4c.1708G>C (p.Val570Leu)
c.1909G>C (p.Val637Leu)
c.1945G>C (p.Val649Leu)
c.1921G>C (p.Val641Leu)
13g.108209360C>TCA388615441LIG4c.1708G>A (p.Val570Ile)
c.1909G>A (p.Val637Ile)
c.1945G>A (p.Val649Ile)
c.1921G>A (p.Val641Ile)
13g.108209361T>ACA388615444LIG4c.1707A>T (p.Lys569Asn)
c.1908A>T (p.Lys636Asn)
c.1944A>T (p.Lys648Asn)
c.1920A>T (p.Lys640Asn)
13g.108209361T>CCA484975629LIG4c.1707A>G (p.Lys569=)
c.1908A>G (p.Lys636=)
c.1944A>G (p.Lys648=)
c.1920A>G (p.Lys640=)
 gnomAD v4
13g.108209361T>GCA388615447LIG4c.1707A>C (p.Lys569Asn)
c.1908A>C (p.Lys636Asn)
c.1944A>C (p.Lys648Asn)
c.1920A>C (p.Lys640Asn)
13g.108209363delCA2623644105LIG4c.1707del (p.Val570LeufsTer8)
c.1908del (p.Val637LeufsTer8)
c.1944del (p.Val649LeufsTer8)
c.1920del (p.Val641LeufsTer8)
 gnomAD v4
13g.108209362T>ACA388615449LIG4c.1706A>T (p.Lys569Ile)
c.1907A>T (p.Lys636Ile)
c.1943A>T (p.Lys648Ile)
c.1919A>T (p.Lys640Ile)
13g.108209362T>CCA388615450LIG4c.1706A>G (p.Lys569Arg)
c.1907A>G (p.Lys636Arg)
c.1943A>G (p.Lys648Arg)
c.1919A>G (p.Lys640Arg)
13g.108209362T>GCA388615451LIG4c.1706A>C (p.Lys569Thr)
c.1907A>C (p.Lys636Thr)
c.1943A>C (p.Lys648Thr)
c.1919A>C (p.Lys640Thr)
 gnomAD v4
13g.108209363T>ACA388615452LIG4c.1705A>T (p.Lys569Ter)
c.1906A>T (p.Lys636Ter)
c.1942A>T (p.Lys648Ter)
c.1918A>T (p.Lys640Ter)
13g.108209363T>CCA388615456LIG4c.1705A>G (p.Lys569Glu)
c.1906A>G (p.Lys636Glu)
c.1942A>G (p.Lys648Glu)
c.1918A>G (p.Lys640Glu)
13g.108209363T>GCA388615453LIG4c.1705A>C (p.Lys569Gln)
c.1906A>C (p.Lys636Gln)
c.1942A>C (p.Lys648Gln)
c.1918A>C (p.Lys640Gln)
13g.108209364C>ACA388615457LIG4c.1704G>T (p.Lys568Asn)
c.1905G>T (p.Lys635Asn)
c.1941G>T (p.Lys647Asn)
c.1917G>T (p.Lys639Asn)
 gnomAD v4
13g.108209364C=CA2117794157LIG4c.1704G= (p.Lys568=)
c.1905G= (p.Lys635=)
c.1941G= (p.Lys647=)
c.1917G= (p.Lys639=)
13g.108209364C>GCA388615459LIG4c.1704G>C (p.Lys568Asn)
c.1905G>C (p.Lys635Asn)
c.1941G>C (p.Lys647Asn)
c.1917G>C (p.Lys639Asn)
 dbSNP
13g.108209364C>TCA7043592LIG4c.1704G>A (p.Lys568=)
c.1905G>A (p.Lys635=)
c.1941G>A (p.Lys647=)
c.1917G>A (p.Lys639=)
 dbSNP ExAC gnomAD v2
13g.108209364_108209365delinsCTCA2117794156LIG4c.1703_1704delinsAG (p.Lys568=)
c.1904_1905delinsAG (p.Lys635=)
c.1940_1941delinsAG (p.Lys647=)
c.1916_1917delinsAG (p.Lys639=)
13g.108209365T>ACA388615467LIG4c.1703A>T (p.Lys568Met)
c.1904A>T (p.Lys635Met)
c.1940A>T (p.Lys647Met)
c.1916A>T (p.Lys639Met)
13g.108209365T>CCA388615469LIG4c.1703A>G (p.Lys568Arg)
c.1904A>G (p.Lys635Arg)
c.1940A>G (p.Lys647Arg)
c.1916A>G (p.Lys639Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.108209365T>GCA388615468LIG4c.1703A>C (p.Lys568Thr)
c.1904A>C (p.Lys635Thr)
c.1940A>C (p.Lys647Thr)
c.1916A>C (p.Lys639Thr)
13g.108209365T=CA2117794159LIG4c.1703A= (p.Lys568=)
c.1904A= (p.Lys635=)
c.1940A= (p.Lys647=)
c.1916A= (p.Lys639=)
13g.108209366dupCA2117794158LIG4c.1703dup (p.Lys569GlufsTer7)
c.1904dup (p.Lys636GlufsTer7)
c.1940dup (p.Lys648GlufsTer7)
c.1916dup (p.Lys640GlufsTer7)
 dbSNP
13g.108209366delCA7043591LIG4c.1703del (p.Lys568ArgfsTer10)
c.1904del (p.Lys635ArgfsTer10)
c.1940del (p.Lys647ArgfsTer10)
c.1916del (p.Lys639ArgfsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209366T>ACA388615471LIG4c.1702A>T (p.Lys568Ter)
c.1903A>T (p.Lys635Ter)
c.1939A>T (p.Lys647Ter)
c.1915A>T (p.Lys639Ter)
13g.108209366T>CCA388615473LIG4c.1702A>G (p.Lys568Glu)
c.1903A>G (p.Lys635Glu)
c.1939A>G (p.Lys647Glu)
c.1915A>G (p.Lys639Glu)
13g.108209366T>GCA388615475LIG4c.1702A>C (p.Lys568Gln)
c.1903A>C (p.Lys635Gln)
c.1939A>C (p.Lys647Gln)
c.1915A>C (p.Lys639Gln)
13g.108209367C>ACA388615477LIG4c.1701G>T (p.Met567Ile)
c.1902G>T (p.Met634Ile)
c.1938G>T (p.Met646Ile)
c.1914G>T (p.Met638Ile)
13g.108209367C=CA2117794160LIG4c.1701G= (p.Met567=)
c.1902G= (p.Met634=)
c.1938G= (p.Met646=)
c.1914G= (p.Met638=)
13g.108209367C>GCA388615479LIG4c.1701G>C (p.Met567Ile)
c.1902G>C (p.Met634Ile)
c.1938G>C (p.Met646Ile)
c.1914G>C (p.Met638Ile)
13g.108209367C>TCA7043593LIG4c.1701G>A (p.Met567Ile)
c.1902G>A (p.Met634Ile)
c.1938G>A (p.Met646Ile)
c.1914G>A (p.Met638Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209368A>CCA388615483LIG4c.1700T>G (p.Met567Arg)
c.1901T>G (p.Met634Arg)
c.1937T>G (p.Met646Arg)
c.1913T>G (p.Met638Arg)
13g.108209368A>GCA388615485LIG4c.1700T>C (p.Met567Thr)
c.1901T>C (p.Met634Thr)
c.1937T>C (p.Met646Thr)
c.1913T>C (p.Met638Thr)
 gnomAD v4
13g.108209368A>TCA388615486LIG4c.1700T>A (p.Met567Lys)
c.1901T>A (p.Met634Lys)
c.1937T>A (p.Met646Lys)
c.1913T>A (p.Met638Lys)
13g.108209369T>ACA388615488LIG4c.1699A>T (p.Met567Leu)
c.1900A>T (p.Met634Leu)
c.1936A>T (p.Met646Leu)
c.1912A>T (p.Met638Leu)
13g.108209369T>CCA388615492LIG4c.1699A>G (p.Met567Val)
c.1900A>G (p.Met634Val)
c.1936A>G (p.Met646Val)
c.1912A>G (p.Met638Val)
 dbSNP gnomAD v2 gnomAD v4
13g.108209369T>GCA388615489LIG4c.1699A>C (p.Met567Leu)
c.1900A>C (p.Met634Leu)
c.1936A>C (p.Met646Leu)
c.1912A>C (p.Met638Leu)
13g.108209369T=CA2117794161LIG4c.1699A= (p.Met567=)
c.1900A= (p.Met634=)
c.1936A= (p.Met646=)
c.1912A= (p.Met638=)
13g.108209370C>ACA256180516LIG4c.1698G>T (p.Lys566Asn)
c.1899G>T (p.Lys633Asn)
c.1935G>T (p.Lys645Asn)
c.1911G>T (p.Lys637Asn)
 dbSNP gnomAD v4
13g.108209370C=CA2117794162LIG4c.1698G= (p.Lys566=)
c.1899G= (p.Lys633=)
c.1935G= (p.Lys645=)
c.1911G= (p.Lys637=)
13g.108209370C>GCA388615494LIG4c.1698G>C (p.Lys566Asn)
c.1899G>C (p.Lys633Asn)
c.1935G>C (p.Lys645Asn)
c.1911G>C (p.Lys637Asn)
13g.108209370C>TCA484975648LIG4c.1698G>A (p.Lys566=)
c.1899G>A (p.Lys633=)
c.1935G>A (p.Lys645=)
c.1911G>A (p.Lys637=)
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=)

Number of alleles fetched