Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108209472T>ACA484975941LIG4c.1596A>T (p.Leu532=)
c.1797A>T (p.Leu599=)
c.1833A>T (p.Leu611=)
c.1809A>T (p.Leu603=)
13g.108209472T>CCA7043612LIG4c.1596A>G (p.Leu532=)
c.1797A>G (p.Leu599=)
c.1833A>G (p.Leu611=)
c.1809A>G (p.Leu603=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209472T>GCA484975946LIG4c.1596A>C (p.Leu532=)
c.1797A>C (p.Leu599=)
c.1833A>C (p.Leu611=)
c.1809A>C (p.Leu603=)
13g.108209472T=CA2117794208LIG4c.1596A= (p.Leu532=)
c.1797A= (p.Leu599=)
c.1833A= (p.Leu611=)
c.1809A= (p.Leu603=)
13g.108209473A=CA2117794209LIG4c.1595T= (p.Leu532=)
c.1796T= (p.Leu599=)
c.1832T= (p.Leu611=)
c.1808T= (p.Leu603=)
13g.108209473A>CCA388615991LIG4c.1595T>G (p.Leu532Arg)
c.1796T>G (p.Leu599Arg)
c.1832T>G (p.Leu611Arg)
c.1808T>G (p.Leu603Arg)
13g.108209473A>GCA388615995LIG4c.1595T>C (p.Leu532Pro)
c.1796T>C (p.Leu599Pro)
c.1832T>C (p.Leu611Pro)
c.1808T>C (p.Leu603Pro)
 dbSNP gnomAD v2 gnomAD v4
13g.108209473A>TCA388615994LIG4c.1595T>A (p.Leu532Gln)
c.1796T>A (p.Leu599Gln)
c.1832T>A (p.Leu611Gln)
c.1808T>A (p.Leu603Gln)
13g.108209474G>ACA484975951LIG4c.1594C>T (p.Leu532=)
c.1795C>T (p.Leu599=)
c.1831C>T (p.Leu611=)
c.1807C>T (p.Leu603=)
 gnomAD v4
13g.108209474G>CCA388615996LIG4c.1594C>G (p.Leu532Val)
c.1795C>G (p.Leu599Val)
c.1831C>G (p.Leu611Val)
c.1807C>G (p.Leu603Val)
13g.108209474G>TCA388615997LIG4c.1594C>A (p.Leu532Ile)
c.1795C>A (p.Leu599Ile)
c.1831C>A (p.Leu611Ile)
c.1807C>A (p.Leu603Ile)
13g.108209475G>ACA484975101LIG4c.1593C>T (p.Asp531=)
c.1794C>T (p.Asp598=)
c.1830C>T (p.Asp610=)
c.1806C>T (p.Asp602=)
 dbSNP
13g.108209475G>CCA388615998LIG4c.1593C>G (p.Asp531Glu)
c.1794C>G (p.Asp598Glu)
c.1830C>G (p.Asp610Glu)
c.1806C>G (p.Asp602Glu)
13g.108209475G=CA2117794210LIG4c.1593C= (p.Asp531=)
c.1794C= (p.Asp598=)
c.1830C= (p.Asp610=)
c.1806C= (p.Asp602=)
13g.108209475G>TCA388615999LIG4c.1593C>A (p.Asp531Glu)
c.1794C>A (p.Asp598Glu)
c.1830C>A (p.Asp610Glu)
c.1806C>A (p.Asp602Glu)
13g.108209476T>ACA388616004LIG4c.1592A>T (p.Asp531Val)
c.1793A>T (p.Asp598Val)
c.1829A>T (p.Asp610Val)
c.1805A>T (p.Asp602Val)
13g.108209476T>CCA388616001LIG4c.1592A>G (p.Asp531Gly)
c.1793A>G (p.Asp598Gly)
c.1829A>G (p.Asp610Gly)
c.1805A>G (p.Asp602Gly)
 dbSNP
13g.108209476T>GCA388616002LIG4c.1592A>C (p.Asp531Ala)
c.1793A>C (p.Asp598Ala)
c.1829A>C (p.Asp610Ala)
c.1805A>C (p.Asp602Ala)
13g.108209476T=CA2117794211LIG4c.1592A= (p.Asp531=)
c.1793A= (p.Asp598=)
c.1829A= (p.Asp610=)
c.1805A= (p.Asp602=)
13g.108209477C>ACA388616006LIG4c.1591G>T (p.Asp531Tyr)
c.1792G>T (p.Asp598Tyr)
c.1828G>T (p.Asp610Tyr)
c.1804G>T (p.Asp602Tyr)
 gnomAD v4
13g.108209477C=CA2117794212LIG4c.1591G= (p.Asp531=)
c.1792G= (p.Asp598=)
c.1828G= (p.Asp610=)
c.1804G= (p.Asp602=)
13g.108209477C>GCA388616009LIG4c.1591G>C (p.Asp531His)
c.1792G>C (p.Asp598His)
c.1828G>C (p.Asp610His)
c.1804G>C (p.Asp602His)
13g.108209477C>TCA7043613LIG4c.1591G>A (p.Asp531Asn)
c.1792G>A (p.Asp598Asn)
c.1828G>A (p.Asp610Asn)
c.1804G>A (p.Asp602Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209478G>ACA7043614LIG4c.1590C>T (p.Asp530=)
c.1791C>T (p.Asp597=)
c.1827C>T (p.Asp609=)
c.1803C>T (p.Asp601=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108209478G>CCA388616014LIG4c.1590C>G (p.Asp530Glu)
c.1791C>G (p.Asp597Glu)
c.1827C>G (p.Asp609Glu)
c.1803C>G (p.Asp601Glu)
13g.108209478G=CA2117794213LIG4c.1590C= (p.Asp530=)
c.1791C= (p.Asp597=)
c.1827C= (p.Asp609=)
c.1803C= (p.Asp601=)
13g.108209478G>TCA388616016LIG4c.1590C>A (p.Asp530Glu)
c.1791C>A (p.Asp597Glu)
c.1827C>A (p.Asp609Glu)
c.1803C>A (p.Asp601Glu)
 dbSNP gnomAD v4
13g.108209479T>ACA388616019LIG4c.1589A>T (p.Asp530Val)
c.1790A>T (p.Asp597Val)
c.1826A>T (p.Asp609Val)
c.1802A>T (p.Asp601Val)
13g.108209479T>CCA388616021LIG4c.1589A>G (p.Asp530Gly)
c.1790A>G (p.Asp597Gly)
c.1826A>G (p.Asp609Gly)
c.1802A>G (p.Asp601Gly)
 dbSNP
13g.108209479T>GCA388616022LIG4c.1589A>C (p.Asp530Ala)
c.1790A>C (p.Asp597Ala)
c.1826A>C (p.Asp609Ala)
c.1802A>C (p.Asp601Ala)
13g.108209479T=CA2117794214LIG4c.1589A= (p.Asp530=)
c.1790A= (p.Asp597=)
c.1826A= (p.Asp609=)
c.1802A= (p.Asp601=)
13g.108209480C>ACA388616025LIG4c.1588G>T (p.Asp530Tyr)
c.1789G>T (p.Asp597Tyr)
c.1825G>T (p.Asp609Tyr)
c.1801G>T (p.Asp601Tyr)
 COSMIC
13g.108209480C=CA2117794215LIG4c.1588G= (p.Asp530=)
c.1789G= (p.Asp597=)
c.1825G= (p.Asp609=)
c.1801G= (p.Asp601=)
13g.108209480C>GCA388616028LIG4c.1588G>C (p.Asp530His)
c.1789G>C (p.Asp597His)
c.1825G>C (p.Asp609His)
c.1801G>C (p.Asp601His)
 gnomAD v4
13g.108209480C>TCA7043615LIG4c.1588G>A (p.Asp530Asn)
c.1789G>A (p.Asp597Asn)
c.1825G>A (p.Asp609Asn)
c.1801G>A (p.Asp601Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209481C>ACA484975111LIG4c.1587G>T (p.Leu529=)
c.1788G>T (p.Leu596=)
c.1824G>T (p.Leu608=)
c.1800G>T (p.Leu600=)
13g.108209481C>GCA484975109LIG4c.1587G>C (p.Leu529=)
c.1788G>C (p.Leu596=)
c.1824G>C (p.Leu608=)
c.1800G>C (p.Leu600=)
13g.108209481C>TCA484975110LIG4c.1587G>A (p.Leu529=)
c.1788G>A (p.Leu596=)
c.1824G>A (p.Leu608=)
c.1800G>A (p.Leu600=)
13g.108209482A>CCA388616032LIG4c.1586T>G (p.Leu529Arg)
c.1787T>G (p.Leu596Arg)
c.1823T>G (p.Leu608Arg)
c.1799T>G (p.Leu600Arg)
 gnomAD v4
13g.108209482A>GCA388616035LIG4c.1586T>C (p.Leu529Pro)
c.1787T>C (p.Leu596Pro)
c.1823T>C (p.Leu608Pro)
c.1799T>C (p.Leu600Pro)
13g.108209482A>TCA388616037LIG4c.1586T>A (p.Leu529Gln)
c.1787T>A (p.Leu596Gln)
c.1823T>A (p.Leu608Gln)
c.1799T>A (p.Leu600Gln)
13g.108209483G>ACA484975115LIG4c.1585C>T (p.Leu529=)
c.1786C>T (p.Leu596=)
c.1822C>T (p.Leu608=)
c.1798C>T (p.Leu600=)
13g.108209483G>CCA388616039LIG4c.1585C>G (p.Leu529Val)
c.1786C>G (p.Leu596Val)
c.1822C>G (p.Leu608Val)
c.1798C>G (p.Leu600Val)
 gnomAD v4
13g.108209483G>TCA388616041LIG4c.1585C>A (p.Leu529Met)
c.1786C>A (p.Leu596Met)
c.1822C>A (p.Leu608Met)
c.1798C>A (p.Leu600Met)
13g.108209484G>ACA484975116LIG4c.1584C>T (p.Thr528=)
c.1785C>T (p.Thr595=)
c.1821C>T (p.Thr607=)
c.1797C>T (p.Thr599=)
13g.108209484G>CCA484975117LIG4c.1584C>G (p.Thr528=)
c.1785C>G (p.Thr595=)
c.1821C>G (p.Thr607=)
c.1797C>G (p.Thr599=)
13g.108209484G=CA2117794216LIG4c.1584C= (p.Thr528=)
c.1785C= (p.Thr595=)
c.1821C= (p.Thr607=)
c.1797C= (p.Thr599=)
13g.108209484G>TCA484975119LIG4c.1584C>A (p.Thr528=)
c.1785C>A (p.Thr595=)
c.1821C>A (p.Thr607=)
c.1797C>A (p.Thr599=)
 dbSNP gnomAD v2 gnomAD v4
13g.108209485G>ACA388616043LIG4c.1583C>T (p.Thr528Ile)
c.1784C>T (p.Thr595Ile)
c.1820C>T (p.Thr607Ile)
c.1796C>T (p.Thr599Ile)
 dbSNP gnomAD v3 gnomAD v4
13g.108209485G>CCA388616044LIG4c.1583C>G (p.Thr528Ser)
c.1784C>G (p.Thr595Ser)
c.1820C>G (p.Thr607Ser)
c.1796C>G (p.Thr599Ser)
13g.108209485G=CA2117794217LIG4c.1583C= (p.Thr528=)
c.1784C= (p.Thr595=)
c.1820C= (p.Thr607=)
c.1796C= (p.Thr599=)
13g.108209485G>TCA388616047LIG4c.1583C>A (p.Thr528Asn)
c.1784C>A (p.Thr595Asn)
c.1820C>A (p.Thr607Asn)
c.1796C>A (p.Thr599Asn)
 dbSNP gnomAD v2 gnomAD v4
13g.108209485_108209487dupCA2623644110LIG4c.1581_1583dup (p.Thr528_Leu529insThr)
c.1782_1784dup (p.Thr595_Leu596insThr)
c.1818_1820dup (p.Thr607_Leu608insThr)
c.1794_1796dup (p.Thr599_Leu600insThr)
 gnomAD v4
13g.108209486T>ACA388616051LIG4c.1582A>T (p.Thr528Ser)
c.1783A>T (p.Thr595Ser)
c.1819A>T (p.Thr607Ser)
c.1795A>T (p.Thr599Ser)
13g.108209486T>CCA388616053LIG4c.1582A>G (p.Thr528Ala)
c.1783A>G (p.Thr595Ala)
c.1819A>G (p.Thr607Ala)
c.1795A>G (p.Thr599Ala)
13g.108209486T>GCA388616060LIG4c.1582A>C (p.Thr528Pro)
c.1783A>C (p.Thr595Pro)
c.1819A>C (p.Thr607Pro)
c.1795A>C (p.Thr599Pro)
13g.108209487C>ACA388616064LIG4c.1581G>T (p.Met527Ile)
c.1782G>T (p.Met594Ile)
c.1818G>T (p.Met606Ile)
c.1794G>T (p.Met598Ile)
 gnomAD v4
13g.108209487C=CA2117794218LIG4c.1581G= (p.Met527=)
c.1782G= (p.Met594=)
c.1818G= (p.Met606=)
c.1794G= (p.Met598=)
13g.108209487C>GCA388616066LIG4c.1581G>C (p.Met527Ile)
c.1782G>C (p.Met594Ile)
c.1818G>C (p.Met606Ile)
c.1794G>C (p.Met598Ile)
13g.108209487C>TCA388616068LIG4c.1581G>A (p.Met527Ile)
c.1782G>A (p.Met594Ile)
c.1818G>A (p.Met606Ile)
c.1794G>A (p.Met598Ile)
 dbSNP
13g.108209488A>CCA388616071LIG4c.1580T>G (p.Met527Arg)
c.1781T>G (p.Met594Arg)
c.1817T>G (p.Met606Arg)
c.1793T>G (p.Met598Arg)
13g.108209488A>GCA388616073LIG4c.1580T>C (p.Met527Thr)
c.1781T>C (p.Met594Thr)
c.1817T>C (p.Met606Thr)
c.1793T>C (p.Met598Thr)
13g.108209488A>TCA388616075LIG4c.1580T>A (p.Met527Lys)
c.1781T>A (p.Met594Lys)
c.1817T>A (p.Met606Lys)
c.1793T>A (p.Met598Lys)
13g.108209489T>ACA388616078LIG4c.1579A>T (p.Met527Leu)
c.1780A>T (p.Met594Leu)
c.1816A>T (p.Met606Leu)
c.1792A>T (p.Met598Leu)
13g.108209489T>CCA388616083LIG4c.1579A>G (p.Met527Val)
c.1780A>G (p.Met594Val)
c.1816A>G (p.Met606Val)
c.1792A>G (p.Met598Val)
 gnomAD v4
13g.108209489T>GCA388616081LIG4c.1579A>C (p.Met527Leu)
c.1780A>C (p.Met594Leu)
c.1816A>C (p.Met606Leu)
c.1792A>C (p.Met598Leu)
 ClinVar dbSNP
13g.108209489T=CA2117794219LIG4c.1579A= (p.Met527=)
c.1780A= (p.Met594=)
c.1816A= (p.Met606=)
c.1792A= (p.Met598=)
13g.108209490G>ACA484975129LIG4c.1578C>T (p.Cys526=)
c.1779C>T (p.Cys593=)
c.1815C>T (p.Cys605=)
c.1791C>T (p.Cys597=)
13g.108209490G>CCA388616085LIG4c.1578C>G (p.Cys526Trp)
c.1779C>G (p.Cys593Trp)
c.1815C>G (p.Cys605Trp)
c.1791C>G (p.Cys597Trp)
13g.108209490G>TCA388616089LIG4c.1578C>A (p.Cys526Ter)
c.1779C>A (p.Cys593Ter)
c.1815C>A (p.Cys605Ter)
c.1791C>A (p.Cys597Ter)
13g.108209491C>ACA388616091LIG4c.1577G>T (p.Cys526Phe)
c.1778G>T (p.Cys593Phe)
c.1814G>T (p.Cys605Phe)
c.1790G>T (p.Cys597Phe)
13g.108209491C>GCA388616092LIG4c.1577G>C (p.Cys526Ser)
c.1778G>C (p.Cys593Ser)
c.1814G>C (p.Cys605Ser)
c.1790G>C (p.Cys597Ser)
13g.108209491C>TCA388616094LIG4c.1577G>A (p.Cys526Tyr)
c.1778G>A (p.Cys593Tyr)
c.1814G>A (p.Cys605Tyr)
c.1790G>A (p.Cys597Tyr)
 COSMIC
13g.108209492A>CCA388616099LIG4c.1576T>G (p.Cys526Gly)
c.1777T>G (p.Cys593Gly)
c.1813T>G (p.Cys605Gly)
c.1789T>G (p.Cys597Gly)
13g.108209492A>GCA388616101LIG4c.1576T>C (p.Cys526Arg)
c.1777T>C (p.Cys593Arg)
c.1813T>C (p.Cys605Arg)
c.1789T>C (p.Cys597Arg)
 COSMIC
13g.108209492A>TCA388616104LIG4c.1576T>A (p.Cys526Ser)
c.1777T>A (p.Cys593Ser)
c.1813T>A (p.Cys605Ser)
c.1789T>A (p.Cys597Ser)
13g.108209493C>ACA388616108LIG4c.1575G>T (p.Glu525Asp)
c.1776G>T (p.Glu592Asp)
c.1812G>T (p.Glu604Asp)
c.1788G>T (p.Glu596Asp)
13g.108209493C>GCA388616110LIG4c.1575G>C (p.Glu525Asp)
c.1776G>C (p.Glu592Asp)
c.1812G>C (p.Glu604Asp)
c.1788G>C (p.Glu596Asp)
 dbSNP
13g.108209493C>TCA484975138LIG4c.1575G>A (p.Glu525=)
c.1776G>A (p.Glu592=)
c.1812G>A (p.Glu604=)
c.1788G>A (p.Glu596=)
 gnomAD v4
13g.108209494T>ACA388616113LIG4c.1574A>T (p.Glu525Val)
c.1775A>T (p.Glu592Val)
c.1811A>T (p.Glu604Val)
c.1787A>T (p.Glu596Val)
13g.108209494T>CCA388616116LIG4c.1574A>G (p.Glu525Gly)
c.1775A>G (p.Glu592Gly)
c.1811A>G (p.Glu604Gly)
c.1787A>G (p.Glu596Gly)
13g.108209494T>GCA388616117LIG4c.1574A>C (p.Glu525Ala)
c.1775A>C (p.Glu592Ala)
c.1811A>C (p.Glu604Ala)
c.1787A>C (p.Glu596Ala)
13g.108209495C>ACA388616124LIG4c.1573G>T (p.Glu525Ter)
c.1774G>T (p.Glu592Ter)
c.1810G>T (p.Glu604Ter)
c.1786G>T (p.Glu596Ter)
13g.108209495C>GCA388616121LIG4c.1573G>C (p.Glu525Gln)
c.1774G>C (p.Glu592Gln)
c.1810G>C (p.Glu604Gln)
c.1786G>C (p.Glu596Gln)
 gnomAD v4
13g.108209495C>TCA388616120LIG4c.1573G>A (p.Glu525Lys)
c.1774G>A (p.Glu592Lys)
c.1810G>A (p.Glu604Lys)
c.1786G>A (p.Glu596Lys)
 COSMIC
13g.108209496A>CCA388616126LIG4c.1572T>G (p.His524Gln)
c.1773T>G (p.His591Gln)
c.1809T>G (p.His603Gln)
c.1785T>G (p.His595Gln)
13g.108209496A>GCA484975143LIG4c.1572T>C (p.His524=)
c.1773T>C (p.His591=)
c.1809T>C (p.His603=)
c.1785T>C (p.His595=)
13g.108209496A>TCA388616128LIG4c.1572T>A (p.His524Gln)
c.1773T>A (p.His591Gln)
c.1809T>A (p.His603Gln)
c.1785T>A (p.His595Gln)
13g.108209497T>ACA388616131LIG4c.1571A>T (p.His524Leu)
c.1772A>T (p.His591Leu)
c.1808A>T (p.His603Leu)
c.1784A>T (p.His595Leu)
13g.108209497T>CCA7043616LIG4c.1571A>G (p.His524Arg)
c.1772A>G (p.His591Arg)
c.1808A>G (p.His603Arg)
c.1784A>G (p.His595Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209497T>GCA388616132LIG4c.1571A>C (p.His524Pro)
c.1772A>C (p.His591Pro)
c.1808A>C (p.His603Pro)
c.1784A>C (p.His595Pro)
13g.108209497T=CA2117794220LIG4c.1571A= (p.His524=)
c.1772A= (p.His591=)
c.1808A= (p.His603=)
c.1784A= (p.His595=)
13g.108209498G>ACA388616133LIG4c.1570C>T (p.His524Tyr)
c.1771C>T (p.His591Tyr)
c.1807C>T (p.His603Tyr)
c.1783C>T (p.His595Tyr)
 gnomAD v4
13g.108209498G>CCA388616135LIG4c.1570C>G (p.His524Asp)
c.1771C>G (p.His591Asp)
c.1807C>G (p.His603Asp)
c.1783C>G (p.His595Asp)
13g.108209498G>TCA388616136LIG4c.1570C>A (p.His524Asn)
c.1771C>A (p.His591Asn)
c.1807C>A (p.His603Asn)
c.1783C>A (p.His595Asn)
13g.108209499C>ACA388616137LIG4c.1569G>T (p.Trp523Cys)
c.1770G>T (p.Trp590Cys)
c.1806G>T (p.Trp602Cys)
c.1782G>T (p.Trp594Cys)
13g.108209499C>GCA388616138LIG4c.1569G>C (p.Trp523Cys)
c.1770G>C (p.Trp590Cys)
c.1806G>C (p.Trp602Cys)
c.1782G>C (p.Trp594Cys)
13g.108209499C>TCA388616139LIG4c.1569G>A (p.Trp523Ter)
c.1770G>A (p.Trp590Ter)
c.1806G>A (p.Trp602Ter)
c.1782G>A (p.Trp594Ter)
 COSMIC
13g.108209500C>ACA388616141LIG4c.1568G>T (p.Trp523Leu)
c.1769G>T (p.Trp590Leu)
c.1805G>T (p.Trp602Leu)
c.1781G>T (p.Trp594Leu)
 COSMIC
13g.108209500C>GCA388616143LIG4c.1568G>C (p.Trp523Ser)
c.1769G>C (p.Trp590Ser)
c.1805G>C (p.Trp602Ser)
c.1781G>C (p.Trp594Ser)
13g.108209500C>TCA388616144LIG4c.1568G>A (p.Trp523Ter)
c.1769G>A (p.Trp590Ter)
c.1805G>A (p.Trp602Ter)
c.1781G>A (p.Trp594Ter)
13g.108209501A>CCA388616147LIG4c.1567T>G (p.Trp523Gly)
c.1768T>G (p.Trp590Gly)
c.1804T>G (p.Trp602Gly)
c.1780T>G (p.Trp594Gly)
13g.108209501A>GCA388616148LIG4c.1567T>C (p.Trp523Arg)
c.1768T>C (p.Trp590Arg)
c.1804T>C (p.Trp602Arg)
c.1780T>C (p.Trp594Arg)
 COSMIC
13g.108209501A>TCA388616146LIG4c.1567T>A (p.Trp523Arg)
c.1768T>A (p.Trp590Arg)
c.1804T>A (p.Trp602Arg)
c.1780T>A (p.Trp594Arg)
13g.108209502C>ACA388616149LIG4c.1566G>T (p.Glu522Asp)
c.1767G>T (p.Glu589Asp)
c.1803G>T (p.Glu601Asp)
c.1779G>T (p.Glu593Asp)
13g.108209502C=CA2117794221LIG4c.1566G= (p.Glu522=)
c.1767G= (p.Glu589=)
c.1803G= (p.Glu601=)
c.1779G= (p.Glu593=)
13g.108209502C>GCA388616151LIG4c.1566G>C (p.Glu522Asp)
c.1767G>C (p.Glu589Asp)
c.1803G>C (p.Glu601Asp)
c.1779G>C (p.Glu593Asp)
13g.108209502C>TCA484975151LIG4c.1566G>A (p.Glu522=)
c.1767G>A (p.Glu589=)
c.1803G>A (p.Glu601=)
c.1779G>A (p.Glu593=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209503T>ACA388616154LIG4c.1565A>T (p.Glu522Val)
c.1766A>T (p.Glu589Val)
c.1802A>T (p.Glu601Val)
c.1778A>T (p.Glu593Val)
13g.108209503T>CCA388616155LIG4c.1565A>G (p.Glu522Gly)
c.1766A>G (p.Glu589Gly)
c.1802A>G (p.Glu601Gly)
c.1778A>G (p.Glu593Gly)
13g.108209503T>GCA388616157LIG4c.1565A>C (p.Glu522Ala)
c.1766A>C (p.Glu589Ala)
c.1802A>C (p.Glu601Ala)
c.1778A>C (p.Glu593Ala)
13g.108209504C>ACA388616160LIG4c.1564G>T (p.Glu522Ter)
c.1765G>T (p.Glu589Ter)
c.1801G>T (p.Glu601Ter)
c.1777G>T (p.Glu593Ter)
13g.108209504C>GCA388616161LIG4c.1564G>C (p.Glu522Gln)
c.1765G>C (p.Glu589Gln)
c.1801G>C (p.Glu601Gln)
c.1777G>C (p.Glu593Gln)
13g.108209504C>TCA388616162LIG4c.1564G>A (p.Glu522Lys)
c.1765G>A (p.Glu589Lys)
c.1801G>A (p.Glu601Lys)
c.1777G>A (p.Glu593Lys)
13g.108209505C>ACA388616163LIG4c.1563G>T (p.Lys521Asn)
c.1764G>T (p.Lys588Asn)
c.1800G>T (p.Lys600Asn)
c.1776G>T (p.Lys592Asn)
13g.108209505C>GCA388616164LIG4c.1563G>C (p.Lys521Asn)
c.1764G>C (p.Lys588Asn)
c.1800G>C (p.Lys600Asn)
c.1776G>C (p.Lys592Asn)
13g.108209505C>TCA484975160LIG4c.1563G>A (p.Lys521=)
c.1764G>A (p.Lys588=)
c.1800G>A (p.Lys600=)
c.1776G>A (p.Lys592=)
13g.108209505_108209507delCA2623644111LIG4c.1561_1563del (p.Lys521del)
c.1762_1764del (p.Lys588del)
c.1798_1800del (p.Lys600del)
c.1774_1776del (p.Lys592del)
 gnomAD v4
13g.108209506T>ACA388616165LIG4c.1562A>T (p.Lys521Met)
c.1763A>T (p.Lys588Met)
c.1799A>T (p.Lys600Met)
c.1775A>T (p.Lys592Met)
13g.108209506T>CCA388616167LIG4c.1562A>G (p.Lys521Arg)
c.1763A>G (p.Lys588Arg)
c.1799A>G (p.Lys600Arg)
c.1775A>G (p.Lys592Arg)
13g.108209506T>GCA388616168LIG4c.1562A>C (p.Lys521Thr)
c.1763A>C (p.Lys588Thr)
c.1799A>C (p.Lys600Thr)
c.1775A>C (p.Lys592Thr)
13g.108209507T>ACA388616170LIG4c.1561A>T (p.Lys521Ter)
c.1762A>T (p.Lys588Ter)
c.1798A>T (p.Lys600Ter)
c.1774A>T (p.Lys592Ter)
13g.108209507T>CCA388616172LIG4c.1561A>G (p.Lys521Glu)
c.1762A>G (p.Lys588Glu)
c.1798A>G (p.Lys600Glu)
c.1774A>G (p.Lys592Glu)
 gnomAD v4
13g.108209507T>GCA388616171LIG4c.1561A>C (p.Lys521Gln)
c.1762A>C (p.Lys588Gln)
c.1798A>C (p.Lys600Gln)
c.1774A>C (p.Lys592Gln)
13g.108209508G>ACA484975164LIG4c.1560C>T (p.Asp520=)
c.1761C>T (p.Asp587=)
c.1797C>T (p.Asp599=)
c.1773C>T (p.Asp591=)
 dbSNP
13g.108209508G>CCA388616173LIG4c.1560C>G (p.Asp520Glu)
c.1761C>G (p.Asp587Glu)
c.1797C>G (p.Asp599Glu)
c.1773C>G (p.Asp591Glu)
13g.108209508G=CA2117794222LIG4c.1560C= (p.Asp520=)
c.1761C= (p.Asp587=)
c.1797C= (p.Asp599=)
c.1773C= (p.Asp591=)
13g.108209508G>TCA388616174LIG4c.1560C>A (p.Asp520Glu)
c.1761C>A (p.Asp587Glu)
c.1797C>A (p.Asp599Glu)
c.1773C>A (p.Asp591Glu)
13g.108209509T>ACA388616175LIG4c.1559A>T (p.Asp520Val)
c.1760A>T (p.Asp587Val)
c.1796A>T (p.Asp599Val)
c.1772A>T (p.Asp591Val)
13g.108209509T>CCA388616179LIG4c.1559A>G (p.Asp520Gly)
c.1760A>G (p.Asp587Gly)
c.1796A>G (p.Asp599Gly)
c.1772A>G (p.Asp591Gly)
 dbSNP gnomAD v4
13g.108209509T>GCA388616181LIG4c.1559A>C (p.Asp520Ala)
c.1760A>C (p.Asp587Ala)
c.1796A>C (p.Asp599Ala)
c.1772A>C (p.Asp591Ala)
13g.108209509T=CA2117794223LIG4c.1559A= (p.Asp520=)
c.1760A= (p.Asp587=)
c.1796A= (p.Asp599=)
c.1772A= (p.Asp591=)
13g.108209510C>ACA388616183LIG4c.1558G>T (p.Asp520Tyr)
c.1759G>T (p.Asp587Tyr)
c.1795G>T (p.Asp599Tyr)
c.1771G>T (p.Asp591Tyr)
13g.108209510C=CA2117794224LIG4c.1558G= (p.Asp520=)
c.1759G= (p.Asp587=)
c.1795G= (p.Asp599=)
c.1771G= (p.Asp591=)
13g.108209510C>GCA388616185LIG4c.1558G>C (p.Asp520His)
c.1759G>C (p.Asp587His)
c.1795G>C (p.Asp599His)
c.1771G>C (p.Asp591His)
13g.108209510C>TCA7043617LIG4c.1558G>A (p.Asp520Asn)
c.1759G>A (p.Asp587Asn)
c.1795G>A (p.Asp599Asn)
c.1771G>A (p.Asp591Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209511A=CA2117794225LIG4c.1557T= (p.Asp519=)
c.1758T= (p.Asp586=)
c.1794T= (p.Asp598=)
c.1770T= (p.Asp590=)
13g.108209511A>CCA388616187LIG4c.1557T>G (p.Asp519Glu)
c.1758T>G (p.Asp586Glu)
c.1794T>G (p.Asp598Glu)
c.1770T>G (p.Asp590Glu)
13g.108209511A>GCA484975170LIG4c.1557T>C (p.Asp519=)
c.1758T>C (p.Asp586=)
c.1794T>C (p.Asp598=)
c.1770T>C (p.Asp590=)
13g.108209511A>TCA388616189LIG4c.1557T>A (p.Asp519Glu)
c.1758T>A (p.Asp586Glu)
c.1794T>A (p.Asp598Glu)
c.1770T>A (p.Asp590Glu)
 ClinVar dbSNP
13g.108209512T>ACA388616191LIG4c.1556A>T (p.Asp519Val)
c.1757A>T (p.Asp586Val)
c.1793A>T (p.Asp598Val)
c.1769A>T (p.Asp590Val)
13g.108209512T>CCA388616194LIG4c.1556A>G (p.Asp519Gly)
c.1757A>G (p.Asp586Gly)
c.1793A>G (p.Asp598Gly)
c.1769A>G (p.Asp590Gly)
13g.108209512T>GCA388616192LIG4c.1556A>C (p.Asp519Ala)
c.1757A>C (p.Asp586Ala)
c.1793A>C (p.Asp598Ala)
c.1769A>C (p.Asp590Ala)
13g.108209513_108209517delCA2623644112LIG4c.1552_1556del (p.Arg518Ter)
c.1753_1757del (p.Arg585Ter)
c.1789_1793del (p.Arg597Ter)
c.1765_1769del (p.Arg589Ter)
 gnomAD v4
13g.108209513C>ACA10642751LIG4c.1555G>T (p.Asp519Tyr)
c.1756G>T (p.Asp586Tyr)
c.1792G>T (p.Asp598Tyr)
c.1768G>T (p.Asp590Tyr)
 ClinVar dbSNP
13g.108209513C=CA2117794226LIG4c.1555G= (p.Asp519=)
c.1756G= (p.Asp586=)
c.1792G= (p.Asp598=)
c.1768G= (p.Asp590=)
13g.108209513C>GCA7043619LIG4c.1555G>C (p.Asp519His)
c.1756G>C (p.Asp586His)
c.1792G>C (p.Asp598His)
c.1768G>C (p.Asp590His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209513C>TCA388616197LIG4c.1555G>A (p.Asp519Asn)
c.1756G>A (p.Asp586Asn)
c.1792G>A (p.Asp598Asn)
c.1768G>A (p.Asp590Asn)
 COSMIC
13g.108209513_108209518delinsCTCTTACA2117794227LIG4c.1550_1555delinsTAAGAG (p.Ile517=)
c.1751_1756delinsTAAGAG (p.Ile584=)
c.1787_1792delinsTAAGAG (p.Ile596=)
c.1763_1768delinsTAAGAG (p.Ile588=)
13g.108209514T>ACA388616200LIG4c.1554A>T (p.Arg518Ser)
c.1755A>T (p.Arg585Ser)
c.1791A>T (p.Arg597Ser)
c.1767A>T (p.Arg589Ser)
13g.108209514T>CCA7043620LIG4c.1554A>G (p.Arg518=)
c.1755A>G (p.Arg585=)
c.1791A>G (p.Arg597=)
c.1767A>G (p.Arg589=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209514T>GCA388616203LIG4c.1554A>C (p.Arg518Ser)
c.1755A>C (p.Arg585Ser)
c.1791A>C (p.Arg597Ser)
c.1767A>C (p.Arg589Ser)
13g.108209514T=CA2117794228LIG4c.1554A= (p.Arg518=)
c.1755A= (p.Arg585=)
c.1791A= (p.Arg597=)
c.1767A= (p.Arg589=)
13g.108209518_108209522delCA7043618LIG4c.1550_1554del (p.Ile517ArgfsTer2)
c.1751_1755del (p.Ile584ArgfsTer2)
c.1787_1791del (p.Ile596ArgfsTer2)
c.1763_1767del (p.Ile588ArgfsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209515C>ACA388616206LIG4c.1553G>T (p.Arg518Ile)
c.1754G>T (p.Arg585Ile)
c.1790G>T (p.Arg597Ile)
c.1766G>T (p.Arg589Ile)
 ClinVar dbSNP gnomAD v4
13g.108209515C=CA2117794229LIG4c.1553G= (p.Arg518=)
c.1754G= (p.Arg585=)
c.1790G= (p.Arg597=)
c.1766G= (p.Arg589=)
13g.108209515C>GCA388616205LIG4c.1553G>C (p.Arg518Thr)
c.1754G>C (p.Arg585Thr)
c.1790G>C (p.Arg597Thr)
c.1766G>C (p.Arg589Thr)
13g.108209515C>TCA388616208LIG4c.1553G>A (p.Arg518Lys)
c.1754G>A (p.Arg585Lys)
c.1790G>A (p.Arg597Lys)
c.1766G>A (p.Arg589Lys)
13g.108209516T>ACA388616210LIG4c.1552A>T (p.Arg518Ter)
c.1753A>T (p.Arg585Ter)
c.1789A>T (p.Arg597Ter)
c.1765A>T (p.Arg589Ter)
13g.108209516T>CCA388616212LIG4c.1552A>G (p.Arg518Gly)
c.1753A>G (p.Arg585Gly)
c.1789A>G (p.Arg597Gly)
c.1765A>G (p.Arg589Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209516T>GCA484975179LIG4c.1552A>C (p.Arg518=)
c.1753A>C (p.Arg585=)
c.1789A>C (p.Arg597=)
c.1765A>C (p.Arg589=)
13g.108209516T=CA2117794230LIG4c.1552A= (p.Arg518=)
c.1753A= (p.Arg585=)
c.1789A= (p.Arg597=)
c.1765A= (p.Arg589=)
13g.108209517T>ACA7043621LIG4c.1551A>T (p.Ile517=)
c.1752A>T (p.Ile584=)
c.1788A>T (p.Ile596=)
c.1764A>T (p.Ile588=)
 dbSNP ExAC gnomAD v2
13g.108209517T>CCA7043622LIG4c.1551A>G (p.Ile517Met)
c.1752A>G (p.Ile584Met)
c.1788A>G (p.Ile596Met)
c.1764A>G (p.Ile588Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209517T>GCA484975181LIG4c.1551A>C (p.Ile517=)
c.1752A>C (p.Ile584=)
c.1788A>C (p.Ile596=)
c.1764A>C (p.Ile588=)
13g.108209517T=CA2117794231LIG4c.1551A= (p.Ile517=)
c.1752A= (p.Ile584=)
c.1788A= (p.Ile596=)
c.1764A= (p.Ile588=)
13g.108209518A=CA2117794232LIG4c.1550T= (p.Ile517=)
c.1751T= (p.Ile584=)
c.1787T= (p.Ile596=)
c.1763T= (p.Ile588=)
13g.108209518A>CCA388616216LIG4c.1550T>G (p.Ile517Arg)
c.1751T>G (p.Ile584Arg)
c.1787T>G (p.Ile596Arg)
c.1763T>G (p.Ile588Arg)
13g.108209518A>GCA7043624LIG4c.1550T>C (p.Ile517Thr)
c.1751T>C (p.Ile584Thr)
c.1787T>C (p.Ile596Thr)
c.1763T>C (p.Ile588Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209518A>TCA388616218LIG4c.1550T>A (p.Ile517Lys)
c.1751T>A (p.Ile584Lys)
c.1787T>A (p.Ile596Lys)
c.1763T>A (p.Ile588Lys)
13g.108209518_108209523delinsATCTTTCA2117794233LIG4c.1545_1550delinsAAAGAT (p.Glu515=)
c.1746_1751delinsAAAGAT (p.Glu582=)
c.1782_1787delinsAAAGAT (p.Glu594=)
c.1758_1763delinsAAAGAT (p.Glu586=)
13g.108209519T>ACA388616224LIG4c.1549A>T (p.Ile517Leu)
c.1750A>T (p.Ile584Leu)
c.1786A>T (p.Ile596Leu)
c.1762A>T (p.Ile588Leu)
13g.108209519T>CCA388616222LIG4c.1549A>G (p.Ile517Val)
c.1750A>G (p.Ile584Val)
c.1786A>G (p.Ile596Val)
c.1762A>G (p.Ile588Val)
13g.108209519T>GCA388616225LIG4c.1549A>C (p.Ile517Leu)
c.1750A>C (p.Ile584Leu)
c.1786A>C (p.Ile596Leu)
c.1762A>C (p.Ile588Leu)
13g.108209521_108209525delCA7043623LIG4c.1545_1549del (p.Glu515AspfsTer4)
c.1746_1750del (p.Glu582AspfsTer4)
c.1782_1786del (p.Glu594AspfsTer4)
c.1758_1762del (p.Glu586AspfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209520C>ACA388616226LIG4c.1548G>T (p.Lys516Asn)
c.1749G>T (p.Lys583Asn)
c.1785G>T (p.Lys595Asn)
c.1761G>T (p.Lys587Asn)
13g.108209520C>GCA388616227LIG4c.1548G>C (p.Lys516Asn)
c.1749G>C (p.Lys583Asn)
c.1785G>C (p.Lys595Asn)
c.1761G>C (p.Lys587Asn)
13g.108209520C>TCA484975185LIG4c.1548G>A (p.Lys516=)
c.1749G>A (p.Lys583=)
c.1785G>A (p.Lys595=)
c.1761G>A (p.Lys587=)
13g.108209520_108209521delinsCTCA2117794234LIG4c.1547_1548delinsAG (p.Lys516=)
c.1748_1749delinsAG (p.Lys583=)
c.1784_1785delinsAG (p.Lys595=)
c.1760_1761delinsAG (p.Lys587=)
13g.108209521T>ACA388616229LIG4c.1547A>T (p.Lys516Met)
c.1748A>T (p.Lys583Met)
c.1784A>T (p.Lys595Met)
c.1760A>T (p.Lys587Met)
13g.108209521T>CCA388616230LIG4c.1547A>G (p.Lys516Arg)
c.1748A>G (p.Lys583Arg)
c.1784A>G (p.Lys595Arg)
c.1760A>G (p.Lys587Arg)
13g.108209521T>GCA7043625LIG4c.1547A>C (p.Lys516Thr)
c.1748A>C (p.Lys583Thr)
c.1784A>C (p.Lys595Thr)
c.1760A>C (p.Lys587Thr)
 dbSNP ExAC gnomAD v2
13g.108209521T=CA2117794235LIG4c.1547A= (p.Lys516=)
c.1748A= (p.Lys583=)
c.1784A= (p.Lys595=)
c.1760A= (p.Lys587=)
13g.108209524delCA960045364LIG4c.1547del (p.Lys516ArgfsTer2)
c.1748del (p.Lys583ArgfsTer2)
c.1784del (p.Lys595ArgfsTer2)
c.1760del (p.Lys587ArgfsTer2)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108209522T>ACA388616236LIG4c.1546A>T (p.Lys516Ter)
c.1747A>T (p.Lys583Ter)
c.1783A>T (p.Lys595Ter)
c.1759A>T (p.Lys587Ter)
13g.108209522T>CCA388616232LIG4c.1546A>G (p.Lys516Glu)
c.1747A>G (p.Lys583Glu)
c.1783A>G (p.Lys595Glu)
c.1759A>G (p.Lys587Glu)
13g.108209522T>GCA388616234LIG4c.1546A>C (p.Lys516Gln)
c.1747A>C (p.Lys583Gln)
c.1783A>C (p.Lys595Gln)
c.1759A>C (p.Lys587Gln)
13g.108209523T>ACA388616237LIG4c.1545A>T (p.Glu515Asp)
c.1746A>T (p.Glu582Asp)
c.1782A>T (p.Glu594Asp)
c.1758A>T (p.Glu586Asp)
13g.108209523T>CCA484975186LIG4c.1545A>G (p.Glu515=)
c.1746A>G (p.Glu582=)
c.1782A>G (p.Glu594=)
c.1758A>G (p.Glu586=)
 dbSNP gnomAD v2 gnomAD v4
13g.108209523T>GCA388616238LIG4c.1545A>C (p.Glu515Asp)
c.1746A>C (p.Glu582Asp)
c.1782A>C (p.Glu594Asp)
c.1758A>C (p.Glu586Asp)
13g.108209523T=CA2117794236LIG4c.1545A= (p.Glu515=)
c.1746A= (p.Glu582=)
c.1782A= (p.Glu594=)
c.1758A= (p.Glu586=)
13g.108209524T>ACA388616239LIG4c.1544A>T (p.Glu515Val)
c.1745A>T (p.Glu582Val)
c.1781A>T (p.Glu594Val)
c.1757A>T (p.Glu586Val)
13g.108209524T>CCA388616240LIG4c.1544A>G (p.Glu515Gly)
c.1745A>G (p.Glu582Gly)
c.1781A>G (p.Glu594Gly)
c.1757A>G (p.Glu586Gly)
13g.108209524T>GCA388616241LIG4c.1544A>C (p.Glu515Ala)
c.1745A>C (p.Glu582Ala)
c.1781A>C (p.Glu594Ala)
c.1757A>C (p.Glu586Ala)
13g.108209525C>ACA388616247LIG4c.1543G>T (p.Glu515Ter)
c.1744G>T (p.Glu582Ter)
c.1780G>T (p.Glu594Ter)
c.1756G>T (p.Glu586Ter)
13g.108209525C>GCA388616245LIG4c.1543G>C (p.Glu515Gln)
c.1744G>C (p.Glu582Gln)
c.1780G>C (p.Glu594Gln)
c.1756G>C (p.Glu586Gln)
 COSMIC
13g.108209525C>TCA388616243LIG4c.1543G>A (p.Glu515Lys)
c.1744G>A (p.Glu582Lys)
c.1780G>A (p.Glu594Lys)
c.1756G>A (p.Glu586Lys)
 COSMIC
13g.108209526A>CCA388616249LIG4c.1542T>G (p.Ile514Met)
c.1743T>G (p.Ile581Met)
c.1779T>G (p.Ile593Met)
c.1755T>G (p.Ile585Met)
13g.108209526A>GCA484975188LIG4c.1542T>C (p.Ile514=)
c.1743T>C (p.Ile581=)
c.1779T>C (p.Ile593=)
c.1755T>C (p.Ile585=)
13g.108209526A>TCA484975190LIG4c.1542T>A (p.Ile514=)
c.1743T>A (p.Ile581=)
c.1779T>A (p.Ile593=)
c.1755T>A (p.Ile585=)
13g.108209527A>CCA388616250LIG4c.1541T>G (p.Ile514Ser)
c.1742T>G (p.Ile581Ser)
c.1778T>G (p.Ile593Ser)
c.1754T>G (p.Ile585Ser)
13g.108209527A>GCA388616251LIG4c.1541T>C (p.Ile514Thr)
c.1742T>C (p.Ile581Thr)
c.1778T>C (p.Ile593Thr)
c.1754T>C (p.Ile585Thr)
 gnomAD v4
13g.108209527A>TCA388616252LIG4c.1541T>A (p.Ile514Asn)
c.1742T>A (p.Ile581Asn)
c.1778T>A (p.Ile593Asn)
c.1754T>A (p.Ile585Asn)
13g.108209528T>ACA388616254LIG4c.1540A>T (p.Ile514Phe)
c.1741A>T (p.Ile581Phe)
c.1777A>T (p.Ile593Phe)
c.1753A>T (p.Ile585Phe)
13g.108209528T>CCA388616255LIG4c.1540A>G (p.Ile514Val)
c.1741A>G (p.Ile581Val)
c.1777A>G (p.Ile593Val)
c.1753A>G (p.Ile585Val)
13g.108209528T>GCA388616257LIG4c.1540A>C (p.Ile514Leu)
c.1741A>C (p.Ile581Leu)
c.1777A>C (p.Ile593Leu)
c.1753A>C (p.Ile585Leu)
13g.108209529T>ACA484975193LIG4c.1539A>T (p.Arg513=)
c.1740A>T (p.Arg580=)
c.1776A>T (p.Arg592=)
c.1752A>T (p.Arg584=)
13g.108209529T>CCA484975194LIG4c.1539A>G (p.Arg513=)
c.1740A>G (p.Arg580=)
c.1776A>G (p.Arg592=)
c.1752A>G (p.Arg584=)
13g.108209529T>GCA484975195LIG4c.1539A>C (p.Arg513=)
c.1740A>C (p.Arg580=)
c.1776A>C (p.Arg592=)
c.1752A>C (p.Arg584=)
13g.108209530C>ACA388616259LIG4c.1538G>T (p.Arg513Leu)
c.1739G>T (p.Arg580Leu)
c.1775G>T (p.Arg592Leu)
c.1751G>T (p.Arg584Leu)
13g.108209530C=CA2117794237LIG4c.1538G= (p.Arg513=)
c.1739G= (p.Arg580=)
c.1775G= (p.Arg592=)
c.1751G= (p.Arg584=)
13g.108209530C>GCA388616260LIG4c.1538G>C (p.Arg513Pro)
c.1739G>C (p.Arg580Pro)
c.1775G>C (p.Arg592Pro)
c.1751G>C (p.Arg584Pro)
 gnomAD v4
13g.108209530C>TCA7043626LIG4c.1538G>A (p.Arg513Gln)
c.1739G>A (p.Arg580Gln)
c.1775G>A (p.Arg592Gln)
c.1751G>A (p.Arg584Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209531G>ACA118972LIG4c.1537C>T (p.Arg513Ter)
c.1738C>T (p.Arg580Ter)
c.1774C>T (p.Arg592Ter)
c.1750C>T (p.Arg584Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209531G>CCA7043627LIG4c.1537C>G (p.Arg513Gly)
c.1738C>G (p.Arg580Gly)
c.1774C>G (p.Arg592Gly)
c.1750C>G (p.Arg584Gly)
 dbSNP ExAC gnomAD v4 COSMIC
13g.108209531G=CA2117794238LIG4c.1537C= (p.Arg513=)
c.1738C= (p.Arg580=)
c.1774C= (p.Arg592=)
c.1750C= (p.Arg584=)
13g.108209531G>TCA484975202LIG4c.1537C>A (p.Arg513=)
c.1738C>A (p.Arg580=)
c.1774C>A (p.Arg592=)
c.1750C>A (p.Arg584=)
13g.108209532T>ACA484975203LIG4c.1536A>T (p.Pro512=)
c.1737A>T (p.Pro579=)
c.1773A>T (p.Pro591=)
c.1749A>T (p.Pro583=)
13g.108209532T>CCA484975206LIG4c.1536A>G (p.Pro512=)
c.1737A>G (p.Pro579=)
c.1773A>G (p.Pro591=)
c.1749A>G (p.Pro583=)
13g.108209532T>GCA484975208LIG4c.1536A>C (p.Pro512=)
c.1737A>C (p.Pro579=)
c.1773A>C (p.Pro591=)
c.1749A>C (p.Pro583=)
13g.108209533G>ACA388616269LIG4c.1535C>T (p.Pro512Leu)
c.1736C>T (p.Pro579Leu)
c.1772C>T (p.Pro591Leu)
c.1748C>T (p.Pro583Leu)
13g.108209533G>CCA388616265LIG4c.1535C>G (p.Pro512Arg)
c.1736C>G (p.Pro579Arg)
c.1772C>G (p.Pro591Arg)
c.1748C>G (p.Pro583Arg)
13g.108209533G>TCA388616268LIG4c.1535C>A (p.Pro512Gln)
c.1736C>A (p.Pro579Gln)
c.1772C>A (p.Pro591Gln)
c.1748C>A (p.Pro583Gln)
13g.108209534G>ACA7043628LIG4c.1534C>T (p.Pro512Ser)
c.1735C>T (p.Pro579Ser)
c.1771C>T (p.Pro591Ser)
c.1747C>T (p.Pro583Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209534G>CCA388616273LIG4c.1534C>G (p.Pro512Ala)
c.1735C>G (p.Pro579Ala)
c.1771C>G (p.Pro591Ala)
c.1747C>G (p.Pro583Ala)
13g.108209534G=CA2117794239LIG4c.1534C= (p.Pro512=)
c.1735C= (p.Pro579=)
c.1771C= (p.Pro591=)
c.1747C= (p.Pro583=)
13g.108209534G>TCA388616274LIG4c.1534C>A (p.Pro512Thr)
c.1735C>A (p.Pro579Thr)
c.1771C>A (p.Pro591Thr)
c.1747C>A (p.Pro583Thr)
13g.108209535A>CCA388616276LIG4c.1533T>G (p.Phe511Leu)
c.1734T>G (p.Phe578Leu)
c.1770T>G (p.Phe590Leu)
c.1746T>G (p.Phe582Leu)
13g.108209535A>GCA484975215LIG4c.1533T>C (p.Phe511=)
c.1734T>C (p.Phe578=)
c.1770T>C (p.Phe590=)
c.1746T>C (p.Phe582=)
13g.108209535A>TCA388616277LIG4c.1533T>A (p.Phe511Leu)
c.1734T>A (p.Phe578Leu)
c.1770T>A (p.Phe590Leu)
c.1746T>A (p.Phe582Leu)
13g.108209536A>CCA388616278LIG4c.1532T>G (p.Phe511Cys)
c.1733T>G (p.Phe578Cys)
c.1769T>G (p.Phe590Cys)
c.1745T>G (p.Phe582Cys)
13g.108209536A>GCA388616279LIG4c.1532T>C (p.Phe511Ser)
c.1733T>C (p.Phe578Ser)
c.1769T>C (p.Phe590Ser)
c.1745T>C (p.Phe582Ser)
13g.108209536A>TCA388616281LIG4c.1532T>A (p.Phe511Tyr)
c.1733T>A (p.Phe578Tyr)
c.1769T>A (p.Phe590Tyr)
c.1745T>A (p.Phe582Tyr)
13g.108209537A>CCA388616283LIG4c.1531T>G (p.Phe511Val)
c.1732T>G (p.Phe578Val)
c.1768T>G (p.Phe590Val)
c.1744T>G (p.Phe582Val)
 COSMIC
13g.108209537A>GCA388616284LIG4c.1531T>C (p.Phe511Leu)
c.1732T>C (p.Phe578Leu)
c.1768T>C (p.Phe590Leu)
c.1744T>C (p.Phe582Leu)
13g.108209537A>TCA388616286LIG4c.1531T>A (p.Phe511Ile)
c.1732T>A (p.Phe578Ile)
c.1768T>A (p.Phe590Ile)
c.1744T>A (p.Phe582Ile)
13g.108209538A=CA2117794240LIG4c.1530T= (p.Arg510=)
c.1731T= (p.Arg577=)
c.1767T= (p.Arg589=)
c.1743T= (p.Arg581=)
13g.108209538A>CCA484975225LIG4c.1530T>G (p.Arg510=)
c.1731T>G (p.Arg577=)
c.1767T>G (p.Arg589=)
c.1743T>G (p.Arg581=)
 dbSNP
13g.108209538A>GCA484975223LIG4c.1530T>C (p.Arg510=)
c.1731T>C (p.Arg577=)
c.1767T>C (p.Arg589=)
c.1743T>C (p.Arg581=)
13g.108209538A>TCA484975224LIG4c.1530T>A (p.Arg510=)
c.1731T>A (p.Arg577=)
c.1767T>A (p.Arg589=)
c.1743T>A (p.Arg581=)
13g.108209539C>ACA388616289LIG4c.1529G>T (p.Arg510Leu)
c.1730G>T (p.Arg577Leu)
c.1766G>T (p.Arg589Leu)
c.1742G>T (p.Arg581Leu)
13g.108209539C=CA2117794241LIG4c.1529G= (p.Arg510=)
c.1730G= (p.Arg577=)
c.1766G= (p.Arg589=)
c.1742G= (p.Arg581=)
13g.108209539C>GCA388616290LIG4c.1529G>C (p.Arg510Pro)
c.1730G>C (p.Arg577Pro)
c.1766G>C (p.Arg589Pro)
c.1742G>C (p.Arg581Pro)
13g.108209539C>TCA7043629LIG4c.1529G>A (p.Arg510His)
c.1730G>A (p.Arg577His)
c.1766G>A (p.Arg589His)
c.1742G>A (p.Arg581His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108209540G>ACA7043630LIG4c.1528C>T (p.Arg510Cys)
c.1729C>T (p.Arg577Cys)
c.1765C>T (p.Arg589Cys)
c.1741C>T (p.Arg581Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209540G>CCA388616292LIG4c.1528C>G (p.Arg510Gly)
c.1729C>G (p.Arg577Gly)
c.1765C>G (p.Arg589Gly)
c.1741C>G (p.Arg581Gly)
 gnomAD v4
13g.108209540G=CA2117794242LIG4c.1528C= (p.Arg510=)
c.1729C= (p.Arg577=)
c.1765C= (p.Arg589=)
c.1741C= (p.Arg581=)
13g.108209540G>TCA388616294LIG4c.1528C>A (p.Arg510Ser)
c.1729C>A (p.Arg577Ser)
c.1765C>A (p.Arg589Ser)
c.1741C>A (p.Arg581Ser)
13g.108209541C>ACA388616295LIG4c.1527G>T (p.Leu509Phe)
c.1728G>T (p.Leu576Phe)
c.1764G>T (p.Leu588Phe)
c.1740G>T (p.Leu580Phe)
13g.108209541C>GCA388616296LIG4c.1527G>C (p.Leu509Phe)
c.1728G>C (p.Leu576Phe)
c.1764G>C (p.Leu588Phe)
c.1740G>C (p.Leu580Phe)
13g.108209541C>TCA484975231LIG4c.1527G>A (p.Leu509=)
c.1728G>A (p.Leu576=)
c.1764G>A (p.Leu588=)
c.1740G>A (p.Leu580=)
 gnomAD v4
13g.108209541dupCA2575452319LIG4c.1527dup (p.Arg510AlafsTer6)
c.1728dup (p.Arg577AlafsTer6)
c.1764dup (p.Arg589AlafsTer6)
c.1740dup (p.Arg581AlafsTer6)
13g.108209542A=CA2117794243LIG4c.1526T= (p.Leu509=)
c.1727T= (p.Leu576=)
c.1763T= (p.Leu588=)
c.1739T= (p.Leu580=)
13g.108209542A>CCA388616297LIG4c.1526T>G (p.Leu509Trp)
c.1727T>G (p.Leu576Trp)
c.1763T>G (p.Leu588Trp)
c.1739T>G (p.Leu580Trp)
13g.108209542A>GCA388616299LIG4c.1526T>C (p.Leu509Ser)
c.1727T>C (p.Leu576Ser)
c.1763T>C (p.Leu588Ser)
c.1739T>C (p.Leu580Ser)
 dbSNP gnomAD v2 gnomAD v4
13g.108209542A>TCA388616301LIG4c.1526T>A (p.Leu509Ter)
c.1727T>A (p.Leu576Ter)
c.1763T>A (p.Leu588Ter)
c.1739T>A (p.Leu580Ter)
13g.108209543A>CCA388616302LIG4c.1525T>G (p.Leu509Val)
c.1726T>G (p.Leu576Val)
c.1762T>G (p.Leu588Val)
c.1738T>G (p.Leu580Val)
13g.108209543A>GCA484975238LIG4c.1525T>C (p.Leu509=)
c.1726T>C (p.Leu576=)
c.1762T>C (p.Leu588=)
c.1738T>C (p.Leu580=)
13g.108209543A>TCA388616303LIG4c.1525T>A (p.Leu509Met)
c.1726T>A (p.Leu576Met)
c.1762T>A (p.Leu588Met)
c.1738T>A (p.Leu580Met)
13g.108209544G>ACA484975239LIG4c.1524C>T (p.Thr508=)
c.1725C>T (p.Thr575=)
c.1761C>T (p.Thr587=)
c.1737C>T (p.Thr579=)
 gnomAD v4
13g.108209544G>CCA484975240LIG4c.1524C>G (p.Thr508=)
c.1725C>G (p.Thr575=)
c.1761C>G (p.Thr587=)
c.1737C>G (p.Thr579=)
 dbSNP
13g.108209544G=CA2117794244LIG4c.1524C= (p.Thr508=)
c.1725C= (p.Thr575=)
c.1761C= (p.Thr587=)
c.1737C= (p.Thr579=)
13g.108209544G>TCA484975241LIG4c.1524C>A (p.Thr508=)
c.1725C>A (p.Thr575=)
c.1761C>A (p.Thr587=)
c.1737C>A (p.Thr579=)
13g.108209545G>ACA388616304LIG4c.1523C>T (p.Thr508Ile)
c.1724C>T (p.Thr575Ile)
c.1760C>T (p.Thr587Ile)
c.1736C>T (p.Thr579Ile)
13g.108209545G>CCA388616305LIG4c.1523C>G (p.Thr508Ser)
c.1724C>G (p.Thr575Ser)
c.1760C>G (p.Thr587Ser)
c.1736C>G (p.Thr579Ser)
13g.108209545G>TCA388616307LIG4c.1523C>A (p.Thr508Asn)
c.1724C>A (p.Thr575Asn)
c.1760C>A (p.Thr587Asn)
c.1736C>A (p.Thr579Asn)
13g.108209546T>ACA388616311LIG4c.1522A>T (p.Thr508Ser)
c.1723A>T (p.Thr575Ser)
c.1759A>T (p.Thr587Ser)
c.1735A>T (p.Thr579Ser)
13g.108209546T>CCA388616308LIG4c.1522A>G (p.Thr508Ala)
c.1723A>G (p.Thr575Ala)
c.1759A>G (p.Thr587Ala)
c.1735A>G (p.Thr579Ala)
13g.108209546T>GCA388616309LIG4c.1522A>C (p.Thr508Pro)
c.1723A>C (p.Thr575Pro)
c.1759A>C (p.Thr587Pro)
c.1735A>C (p.Thr579Pro)
13g.108209547G>ACA484975244LIG4c.1521C>T (p.Cys507=)
c.1722C>T (p.Cys574=)
c.1758C>T (p.Cys586=)
c.1734C>T (p.Cys578=)
13g.108209547G>CCA388616312LIG4c.1521C>G (p.Cys507Trp)
c.1722C>G (p.Cys574Trp)
c.1758C>G (p.Cys586Trp)
c.1734C>G (p.Cys578Trp)
13g.108209547G>TCA388616313LIG4c.1521C>A (p.Cys507Ter)
c.1722C>A (p.Cys574Ter)
c.1758C>A (p.Cys586Ter)
c.1734C>A (p.Cys578Ter)
13g.108209548C>ACA388616314LIG4c.1520G>T (p.Cys507Phe)
c.1721G>T (p.Cys574Phe)
c.1757G>T (p.Cys586Phe)
c.1733G>T (p.Cys578Phe)
 gnomAD v4
13g.108209548C>GCA388616316LIG4c.1520G>C (p.Cys507Ser)
c.1721G>C (p.Cys574Ser)
c.1757G>C (p.Cys586Ser)
c.1733G>C (p.Cys578Ser)
13g.108209548C>TCA388616317LIG4c.1520G>A (p.Cys507Tyr)
c.1721G>A (p.Cys574Tyr)
c.1757G>A (p.Cys586Tyr)
c.1733G>A (p.Cys578Tyr)
13g.108209548_108209549delinsAGCA915948662LIG4c.1519_1520delinsCT (p.Cys507Leu)
c.1720_1721delinsCT (p.Cys574Leu)
c.1756_1757delinsCT (p.Cys586Leu)
c.1732_1733delinsCT (p.Cys578Leu)
 ClinVar dbSNP
13g.108209548_108209549delinsCACA2117794245LIG4c.1519_1520delinsTG (p.Cys507=)
c.1720_1721delinsTG (p.Cys574=)
c.1756_1757delinsTG (p.Cys586=)
c.1732_1733delinsTG (p.Cys578=)
13g.108209549A=CA2117794246LIG4c.1519T= (p.Cys507=)
c.1720T= (p.Cys574=)
c.1756T= (p.Cys586=)
c.1732T= (p.Cys578=)
13g.108209549A>CCA388616318LIG4c.1519T>G (p.Cys507Gly)
c.1720T>G (p.Cys574Gly)
c.1756T>G (p.Cys586Gly)
c.1732T>G (p.Cys578Gly)
13g.108209549A>GCA7043631LIG4c.1519T>C (p.Cys507Arg)
c.1720T>C (p.Cys574Arg)
c.1756T>C (p.Cys586Arg)
c.1732T>C (p.Cys578Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209549A>TCA388616320LIG4c.1519T>A (p.Cys507Ser)
c.1720T>A (p.Cys574Ser)
c.1756T>A (p.Cys586Ser)
c.1732T>A (p.Cys578Ser)
13g.108209550G>ACA484975251LIG4c.1518C>T (p.Gly506=)
c.1719C>T (p.Gly573=)
c.1755C>T (p.Gly585=)
c.1731C>T (p.Gly577=)
13g.108209550G>CCA484975253LIG4c.1518C>G (p.Gly506=)
c.1719C>G (p.Gly573=)
c.1755C>G (p.Gly585=)
c.1731C>G (p.Gly577=)
13g.108209550G>TCA484975255LIG4c.1518C>A (p.Gly506=)
c.1719C>A (p.Gly573=)
c.1755C>A (p.Gly585=)
c.1731C>A (p.Gly577=)
13g.108209551C>ACA388616322LIG4c.1517G>T (p.Gly506Val)
c.1718G>T (p.Gly573Val)
c.1754G>T (p.Gly585Val)
c.1730G>T (p.Gly577Val)
13g.108209551C>GCA388616324LIG4c.1517G>C (p.Gly506Ala)
c.1718G>C (p.Gly573Ala)
c.1754G>C (p.Gly585Ala)
c.1730G>C (p.Gly577Ala)
13g.108209551C>TCA388616326LIG4c.1517G>A (p.Gly506Asp)
c.1718G>A (p.Gly573Asp)
c.1754G>A (p.Gly585Asp)
c.1730G>A (p.Gly577Asp)
 gnomAD v4
13g.108209552C>ACA388616329LIG4c.1516G>T (p.Gly506Cys)
c.1717G>T (p.Gly573Cys)
c.1753G>T (p.Gly585Cys)
c.1729G>T (p.Gly577Cys)
13g.108209552C>GCA388616331LIG4c.1516G>C (p.Gly506Arg)
c.1717G>C (p.Gly573Arg)
c.1753G>C (p.Gly585Arg)
c.1729G>C (p.Gly577Arg)
13g.108209552C>TCA388616328LIG4c.1516G>A (p.Gly506Ser)
c.1717G>A (p.Gly573Ser)
c.1753G>A (p.Gly585Ser)
c.1729G>A (p.Gly577Ser)
 COSMIC
13g.108209553A>CCA484975258LIG4c.1515T>G (p.Thr505=)
c.1716T>G (p.Thr572=)
c.1752T>G (p.Thr584=)
c.1728T>G (p.Thr576=)
13g.108209553A>GCA484975260LIG4c.1515T>C (p.Thr505=)
c.1716T>C (p.Thr572=)
c.1752T>C (p.Thr584=)
c.1728T>C (p.Thr576=)
13g.108209553A>TCA484975261LIG4c.1515T>A (p.Thr505=)
c.1716T>A (p.Thr572=)
c.1752T>A (p.Thr584=)
c.1728T>A (p.Thr576=)
13g.108209554G>ACA388616333LIG4c.1514C>T (p.Thr505Ile)
c.1715C>T (p.Thr572Ile)
c.1751C>T (p.Thr584Ile)
c.1727C>T (p.Thr576Ile)
 dbSNP gnomAD v2
13g.108209554G>CCA388616334LIG4c.1514C>G (p.Thr505Ser)
c.1715C>G (p.Thr572Ser)
c.1751C>G (p.Thr584Ser)
c.1727C>G (p.Thr576Ser)
 gnomAD v4
13g.108209554G=CA2117794247LIG4c.1514C= (p.Thr505=)
c.1715C= (p.Thr572=)
c.1751C= (p.Thr584=)
c.1727C= (p.Thr576=)
13g.108209554G>TCA388616336LIG4c.1514C>A (p.Thr505Asn)
c.1715C>A (p.Thr572Asn)
c.1751C>A (p.Thr584Asn)
c.1727C>A (p.Thr576Asn)
13g.108209555T>ACA388616337LIG4c.1513A>T (p.Thr505Ser)
c.1714A>T (p.Thr572Ser)
c.1750A>T (p.Thr584Ser)
c.1726A>T (p.Thr576Ser)
13g.108209555T>CCA388616338LIG4c.1513A>G (p.Thr505Ala)
c.1714A>G (p.Thr572Ala)
c.1750A>G (p.Thr584Ala)
c.1726A>G (p.Thr576Ala)
 gnomAD v4
13g.108209555T>GCA388616340LIG4c.1513A>C (p.Thr505Pro)
c.1714A>C (p.Thr572Pro)
c.1750A>C (p.Thr584Pro)
c.1726A>C (p.Thr576Pro)
13g.108209558delCA2729071369LIG4c.1513del (p.Thr505LeufsTer13)
c.1714del (p.Thr572LeufsTer13)
c.1750del (p.Thr584LeufsTer13)
c.1726del (p.Thr576LeufsTer13)
 dbSNP
13g.108209556T>ACA388616344LIG4c.1512A>T (p.Lys504Asn)
c.1713A>T (p.Lys571Asn)
c.1749A>T (p.Lys583Asn)
c.1725A>T (p.Lys575Asn)
13g.108209556T>CCA484975265LIG4c.1512A>G (p.Lys504=)
c.1713A>G (p.Lys571=)
c.1749A>G (p.Lys583=)
c.1725A>G (p.Lys575=)
13g.108209556T>GCA388616342LIG4c.1512A>C (p.Lys504Asn)
c.1713A>C (p.Lys571Asn)
c.1749A>C (p.Lys583Asn)
c.1725A>C (p.Lys575Asn)
13g.108209557T>ACA388616346LIG4c.1511A>T (p.Lys504Ile)
c.1712A>T (p.Lys571Ile)
c.1748A>T (p.Lys583Ile)
c.1724A>T (p.Lys575Ile)
13g.108209557T>CCA388616347LIG4c.1511A>G (p.Lys504Arg)
c.1712A>G (p.Lys571Arg)
c.1748A>G (p.Lys583Arg)
c.1724A>G (p.Lys575Arg)
13g.108209557T>GCA388616349LIG4c.1511A>C (p.Lys504Thr)
c.1712A>C (p.Lys571Thr)
c.1748A>C (p.Lys583Thr)
c.1724A>C (p.Lys575Thr)
13g.108209558T>ACA388616351LIG4c.1510A>T (p.Lys504Ter)
c.1711A>T (p.Lys571Ter)
c.1747A>T (p.Lys583Ter)
c.1723A>T (p.Lys575Ter)
13g.108209558T>CCA388616352LIG4c.1510A>G (p.Lys504Glu)
c.1711A>G (p.Lys571Glu)
c.1747A>G (p.Lys583Glu)
c.1723A>G (p.Lys575Glu)
13g.108209558T>GCA388616354LIG4c.1510A>C (p.Lys504Gln)
c.1711A>C (p.Lys571Gln)
c.1747A>C (p.Lys583Gln)
c.1723A>C (p.Lys575Gln)
13g.108209559A=CA2117794248LIG4c.1509T= (p.Tyr503=)
c.1710T= (p.Tyr570=)
c.1746T= (p.Tyr582=)
c.1722T= (p.Tyr574=)
13g.108209559A>CCA388616356LIG4c.1509T>G (p.Tyr503Ter)
c.1710T>G (p.Tyr570Ter)
c.1746T>G (p.Tyr582Ter)
c.1722T>G (p.Tyr574Ter)
13g.108209559A>GCA7043632LIG4c.1509T>C (p.Tyr503=)
c.1710T>C (p.Tyr570=)
c.1746T>C (p.Tyr582=)
c.1722T>C (p.Tyr574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209559A>TCA388616359LIG4c.1509T>A (p.Tyr503Ter)
c.1710T>A (p.Tyr570Ter)
c.1746T>A (p.Tyr582Ter)
c.1722T>A (p.Tyr574Ter)
13g.108209560T>ACA388616361LIG4c.1508A>T (p.Tyr503Phe)
c.1709A>T (p.Tyr570Phe)
c.1745A>T (p.Tyr582Phe)
c.1721A>T (p.Tyr574Phe)
13g.108209560T>CCA388616362LIG4c.1508A>G (p.Tyr503Cys)
c.1709A>G (p.Tyr570Cys)
c.1745A>G (p.Tyr582Cys)
c.1721A>G (p.Tyr574Cys)
 dbSNP
13g.108209560T>GCA388616364LIG4c.1508A>C (p.Tyr503Ser)
c.1709A>C (p.Tyr570Ser)
c.1745A>C (p.Tyr582Ser)
c.1721A>C (p.Tyr574Ser)
13g.108209560T=CA2117794249LIG4c.1508A= (p.Tyr503=)
c.1709A= (p.Tyr570=)
c.1745A= (p.Tyr582=)
c.1721A= (p.Tyr574=)
13g.108209561A>CCA388616365LIG4c.1507T>G (p.Tyr503Asp)
c.1708T>G (p.Tyr570Asp)
c.1744T>G (p.Tyr582Asp)
c.1720T>G (p.Tyr574Asp)
13g.108209561A>GCA388616367LIG4c.1507T>C (p.Tyr503His)
c.1708T>C (p.Tyr570His)
c.1744T>C (p.Tyr582His)
c.1720T>C (p.Tyr574His)
 ClinVar dbSNP
13g.108209561A>TCA388616368LIG4c.1507T>A (p.Tyr503Asn)
c.1708T>A (p.Tyr570Asn)
c.1744T>A (p.Tyr582Asn)
c.1720T>A (p.Tyr574Asn)
 gnomAD v4
13g.108209562C>ACA388616370LIG4c.1506G>T (p.Met502Ile)
c.1707G>T (p.Met569Ile)
c.1743G>T (p.Met581Ile)
c.1719G>T (p.Met573Ile)
13g.108209562C=CA2117794250LIG4c.1506G= (p.Met502=)
c.1707G= (p.Met569=)
c.1743G= (p.Met581=)
c.1719G= (p.Met573=)
13g.108209562C>GCA388616372LIG4c.1506G>C (p.Met502Ile)
c.1707G>C (p.Met569Ile)
c.1743G>C (p.Met581Ile)
c.1719G>C (p.Met573Ile)
13g.108209562C>TCA256180859LIG4c.1506G>A (p.Met502Ile)
c.1707G>A (p.Met569Ile)
c.1743G>A (p.Met581Ile)
c.1719G>A (p.Met573Ile)
 dbSNP
13g.108209563A=CA2117794251LIG4c.1505T= (p.Met502=)
c.1706T= (p.Met569=)
c.1742T= (p.Met581=)
c.1718T= (p.Met573=)
13g.108209563A>CCA388616374LIG4c.1505T>G (p.Met502Arg)
c.1706T>G (p.Met569Arg)
c.1742T>G (p.Met581Arg)
c.1718T>G (p.Met573Arg)
 gnomAD v4
13g.108209563A>GCA7043633LIG4c.1505T>C (p.Met502Thr)
c.1706T>C (p.Met569Thr)
c.1742T>C (p.Met581Thr)
c.1718T>C (p.Met573Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209563A>TCA388616376LIG4c.1505T>A (p.Met502Lys)
c.1706T>A (p.Met569Lys)
c.1742T>A (p.Met581Lys)
c.1718T>A (p.Met573Lys)
13g.108209564T>ACA388616381LIG4c.1504A>T (p.Met502Leu)
c.1705A>T (p.Met569Leu)
c.1741A>T (p.Met581Leu)
c.1717A>T (p.Met573Leu)
13g.108209564T>CCA7043634LIG4c.1504A>G (p.Met502Val)
c.1705A>G (p.Met569Val)
c.1741A>G (p.Met581Val)
c.1717A>G (p.Met573Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209564T>GCA388616378LIG4c.1504A>C (p.Met502Leu)
c.1705A>C (p.Met569Leu)
c.1741A>C (p.Met581Leu)
c.1717A>C (p.Met573Leu)
13g.108209564T=CA2117794252LIG4c.1504A= (p.Met502=)
c.1705A= (p.Met569=)
c.1741A= (p.Met581=)
c.1717A= (p.Met573=)
13g.108209564dupCA2623644113LIG4c.1504dup (p.Met502AsnfsTer3)
c.1705dup (p.Met569AsnfsTer3)
c.1741dup (p.Met581AsnfsTer3)
c.1717dup (p.Met573AsnfsTer3)
 gnomAD v4
13g.108209564_108209565delinsCGCA2117794253LIG4c.1503_1504delinsCG (p.Met502Val)
c.1704_1705delinsCG (p.Met569Val)
c.1740_1741delinsCG (p.Met581Val)
c.1716_1717delinsCG (p.Met573Val)
 ClinVar dbSNP
13g.108209564_108209565delinsTACA2117794254LIG4c.1503_1504delinsTA (p.Asp501=)
c.1704_1705delinsTA (p.Asp568=)
c.1740_1741delinsTA (p.Asp580=)
c.1716_1717delinsTA (p.Asp572=)
13g.108209565A=CA2018047018LIG4c.1503T= (p.Asp501=)
c.1704T= (p.Asp568=)
c.1740T= (p.Asp580=)
c.1716T= (p.Asp572=)
13g.108209565A>CCA388616382LIG4c.1503T>G (p.Asp501Glu)
c.1704T>G (p.Asp568Glu)
c.1740T>G (p.Asp580Glu)
c.1716T>G (p.Asp572Glu)
13g.108209565A>GCA153528LIG4c.1503T>C (p.Asp501=)
c.1704T>C (p.Asp568=)
c.1740T>C (p.Asp580=)
c.1716T>C (p.Asp572=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209565A>TCA388616384LIG4c.1503T>A (p.Asp501Glu)
c.1704T>A (p.Asp568Glu)
c.1740T>A (p.Asp580Glu)
c.1716T>A (p.Asp572Glu)
13g.108209566T>ACA388616386LIG4c.1502A>T (p.Asp501Val)
c.1703A>T (p.Asp568Val)
c.1739A>T (p.Asp580Val)
c.1715A>T (p.Asp572Val)
13g.108209566T>CCA7043635LIG4c.1502A>G (p.Asp501Gly)
c.1703A>G (p.Asp568Gly)
c.1739A>G (p.Asp580Gly)
c.1715A>G (p.Asp572Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209566T>GCA256180902LIG4c.1502A>C (p.Asp501Ala)
c.1703A>C (p.Asp568Ala)
c.1739A>C (p.Asp580Ala)
c.1715A>C (p.Asp572Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209566T=CA2117794255LIG4c.1502A= (p.Asp501=)
c.1703A= (p.Asp568=)
c.1739A= (p.Asp580=)
c.1715A= (p.Asp572=)
13g.108209567C>ACA388616390LIG4c.1501G>T (p.Asp501Tyr)
c.1702G>T (p.Asp568Tyr)
c.1738G>T (p.Asp580Tyr)
c.1714G>T (p.Asp572Tyr)
13g.108209567C>GCA388616392LIG4c.1501G>C (p.Asp501His)
c.1702G>C (p.Asp568His)
c.1738G>C (p.Asp580His)
c.1714G>C (p.Asp572His)
13g.108209567C>TCA388616393LIG4c.1501G>A (p.Asp501Asn)
c.1702G>A (p.Asp568Asn)
c.1738G>A (p.Asp580Asn)
c.1714G>A (p.Asp572Asn)
 gnomAD v4
13g.108209568A>CCA388616395LIG4c.1500T>G (p.Ser500Arg)
c.1701T>G (p.Ser567Arg)
c.1737T>G (p.Ser579Arg)
c.1713T>G (p.Ser571Arg)
13g.108209568A>GCA484975300LIG4c.1500T>C (p.Ser500=)
c.1701T>C (p.Ser567=)
c.1737T>C (p.Ser579=)
c.1713T>C (p.Ser571=)
 ClinVar
13g.108209568A>TCA388616396LIG4c.1500T>A (p.Ser500Arg)
c.1701T>A (p.Ser567Arg)
c.1737T>A (p.Ser579Arg)
c.1713T>A (p.Ser571Arg)
13g.108209569C>ACA388616398LIG4c.1499G>T (p.Ser500Ile)
c.1700G>T (p.Ser567Ile)
c.1736G>T (p.Ser579Ile)
c.1712G>T (p.Ser571Ile)
13g.108209569C>GCA388616400LIG4c.1499G>C (p.Ser500Thr)
c.1700G>C (p.Ser567Thr)
c.1736G>C (p.Ser579Thr)
c.1712G>C (p.Ser571Thr)
13g.108209569C>TCA388616402LIG4c.1499G>A (p.Ser500Asn)
c.1700G>A (p.Ser567Asn)
c.1736G>A (p.Ser579Asn)
c.1712G>A (p.Ser571Asn)
13g.108209570T>ACA388616408LIG4c.1498A>T (p.Ser500Cys)
c.1699A>T (p.Ser567Cys)
c.1735A>T (p.Ser579Cys)
c.1711A>T (p.Ser571Cys)
13g.108209570T>CCA388616406LIG4c.1498A>G (p.Ser500Gly)
c.1699A>G (p.Ser567Gly)
c.1735A>G (p.Ser579Gly)
c.1711A>G (p.Ser571Gly)
 dbSNP gnomAD v2 gnomAD v4
13g.108209570T>GCA388616404LIG4c.1498A>C (p.Ser500Arg)
c.1699A>C (p.Ser567Arg)
c.1735A>C (p.Ser579Arg)
c.1711A>C (p.Ser571Arg)
13g.108209570T=CA2117794256LIG4c.1498A= (p.Ser500=)
c.1699A= (p.Ser567=)
c.1735A= (p.Ser579=)
c.1711A= (p.Ser571=)
13g.108209571G>ACA484975308LIG4c.1497C>T (p.Pro499=)
c.1698C>T (p.Pro566=)
c.1734C>T (p.Pro578=)
c.1710C>T (p.Pro570=)
 gnomAD v4
13g.108209571G>CCA484975309LIG4c.1497C>G (p.Pro499=)
c.1698C>G (p.Pro566=)
c.1734C>G (p.Pro578=)
c.1710C>G (p.Pro570=)
13g.108209571G>TCA484975310LIG4c.1497C>A (p.Pro499=)
c.1698C>A (p.Pro566=)
c.1734C>A (p.Pro578=)
c.1710C>A (p.Pro570=)
13g.108209572G>ACA388616409LIG4c.1496C>T (p.Pro499Leu)
c.1697C>T (p.Pro566Leu)
c.1733C>T (p.Pro578Leu)
c.1709C>T (p.Pro570Leu)
 ClinVar
13g.108209572G>CCA388616410LIG4c.1496C>G (p.Pro499Arg)
c.1697C>G (p.Pro566Arg)
c.1733C>G (p.Pro578Arg)
c.1709C>G (p.Pro570Arg)
 dbSNP gnomAD v2 gnomAD v4
13g.108209572G=CA2117794257LIG4c.1496C= (p.Pro499=)
c.1697C= (p.Pro566=)
c.1733C= (p.Pro578=)
c.1709C= (p.Pro570=)
13g.108209572G>TCA388616412LIG4c.1496C>A (p.Pro499His)
c.1697C>A (p.Pro566His)
c.1733C>A (p.Pro578His)
c.1709C>A (p.Pro570His)
 ClinVar dbSNP

Number of alleles fetched