Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108209232C>ACA388614333LIG4c.1836G>T (p.Glu612Asp)
c.2037G>T (p.Glu679Asp)
c.2073G>T (p.Glu691Asp)
c.2049G>T (p.Glu683Asp)
13g.108209232C>GCA388614336LIG4c.1836G>C (p.Glu612Asp)
c.2037G>C (p.Glu679Asp)
c.2073G>C (p.Glu691Asp)
c.2049G>C (p.Glu683Asp)
13g.108209232C>TCA484975118LIG4c.1836G>A (p.Glu612=)
c.2037G>A (p.Glu679=)
c.2073G>A (p.Glu691=)
c.2049G>A (p.Glu683=)
13g.108209233T>ACA388614339LIG4c.1835A>T (p.Glu612Val)
c.2036A>T (p.Glu679Val)
c.2072A>T (p.Glu691Val)
c.2048A>T (p.Glu683Val)
13g.108209233T>CCA388614344LIG4c.1835A>G (p.Glu612Gly)
c.2036A>G (p.Glu679Gly)
c.2072A>G (p.Glu691Gly)
c.2048A>G (p.Glu683Gly)
13g.108209233T>GCA388614342LIG4c.1835A>C (p.Glu612Ala)
c.2036A>C (p.Glu679Ala)
c.2072A>C (p.Glu691Ala)
c.2048A>C (p.Glu683Ala)
13g.108209234C>ACA388614348LIG4c.1834G>T (p.Glu612Ter)
c.2035G>T (p.Glu679Ter)
c.2071G>T (p.Glu691Ter)
c.2047G>T (p.Glu683Ter)
13g.108209234C=CA2117794100LIG4c.1834G= (p.Glu612=)
c.2035G= (p.Glu679=)
c.2071G= (p.Glu691=)
c.2047G= (p.Glu683=)
13g.108209234C>GCA256180199LIG4c.1834G>C (p.Glu612Gln)
c.2035G>C (p.Glu679Gln)
c.2071G>C (p.Glu691Gln)
c.2047G>C (p.Glu683Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209234C>TCA388614360LIG4c.1834G>A (p.Glu612Lys)
c.2035G>A (p.Glu679Lys)
c.2071G>A (p.Glu691Lys)
c.2047G>A (p.Glu683Lys)
ClinVar dbSNP gnomAD v4
13g.108209235C>ACA484975122LIG4c.1833G>T (p.Leu611=)
c.2034G>T (p.Leu678=)
c.2070G>T (p.Leu690=)
c.2046G>T (p.Leu682=)
13g.108209235C>GCA484975124LIG4c.1833G>C (p.Leu611=)
c.2034G>C (p.Leu678=)
c.2070G>C (p.Leu690=)
c.2046G>C (p.Leu682=)
13g.108209235C>TCA484975125LIG4c.1833G>A (p.Leu611=)
c.2034G>A (p.Leu678=)
c.2070G>A (p.Leu690=)
c.2046G>A (p.Leu682=)
13g.108209236A>CCA388614366LIG4c.1832T>G (p.Leu611Arg)
c.2033T>G (p.Leu678Arg)
c.2069T>G (p.Leu690Arg)
c.2045T>G (p.Leu682Arg)
13g.108209236A>GCA388614369LIG4c.1832T>C (p.Leu611Pro)
c.2033T>C (p.Leu678Pro)
c.2069T>C (p.Leu690Pro)
c.2045T>C (p.Leu682Pro)
13g.108209236A>TCA388614371LIG4c.1832T>A (p.Leu611Gln)
c.2033T>A (p.Leu678Gln)
c.2069T>A (p.Leu690Gln)
c.2045T>A (p.Leu682Gln)
13g.108209237G>ACA484975126LIG4c.1831C>T (p.Leu611=)
c.2032C>T (p.Leu678=)
c.2068C>T (p.Leu690=)
c.2044C>T (p.Leu682=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.108209237G>CCA388614375LIG4c.1831C>G (p.Leu611Val)
c.2032C>G (p.Leu678Val)
c.2068C>G (p.Leu690Val)
c.2044C>G (p.Leu682Val)
dbSNP gnomAD v2 gnomAD v4
13g.108209237G=CA2117794101LIG4c.1831C= (p.Leu611=)
c.2032C= (p.Leu678=)
c.2068C= (p.Leu690=)
c.2044C= (p.Leu682=)
13g.108209237G>TCA388614389LIG4c.1831C>A (p.Leu611Met)
c.2032C>A (p.Leu678Met)
c.2068C>A (p.Leu690Met)
c.2044C>A (p.Leu682Met)
gnomAD v4
13g.108209238G>ACA484975128LIG4c.1830C>T (p.Asp610=)
c.2031C>T (p.Asp677=)
c.2067C>T (p.Asp689=)
c.2043C>T (p.Asp681=)
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.108209238G>CCA388614393LIG4c.1830C>G (p.Asp610Glu)
c.2031C>G (p.Asp677Glu)
c.2067C>G (p.Asp689Glu)
c.2043C>G (p.Asp681Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209238G=CA2117794102LIG4c.1830C= (p.Asp610=)
c.2031C= (p.Asp677=)
c.2067C= (p.Asp689=)
c.2043C= (p.Asp681=)
13g.108209238G>TCA388614397LIG4c.1830C>A (p.Asp610Glu)
c.2031C>A (p.Asp677Glu)
c.2067C>A (p.Asp689Glu)
c.2043C>A (p.Asp681Glu)
13g.108209239T>ACA388614409LIG4c.1829A>T (p.Asp610Val)
c.2030A>T (p.Asp677Val)
c.2066A>T (p.Asp689Val)
c.2042A>T (p.Asp681Val)
13g.108209239T>CCA388614410LIG4c.1829A>G (p.Asp610Gly)
c.2030A>G (p.Asp677Gly)
c.2066A>G (p.Asp689Gly)
c.2042A>G (p.Asp681Gly)
13g.108209239T>GCA388614406LIG4c.1829A>C (p.Asp610Ala)
c.2030A>C (p.Asp677Ala)
c.2066A>C (p.Asp689Ala)
c.2042A>C (p.Asp681Ala)
13g.108209240C>ACA388614411LIG4c.1828G>T (p.Asp610Tyr)
c.2029G>T (p.Asp677Tyr)
c.2065G>T (p.Asp689Tyr)
c.2041G>T (p.Asp681Tyr)
13g.108209240C>GCA388614416LIG4c.1828G>C (p.Asp610His)
c.2029G>C (p.Asp677His)
c.2065G>C (p.Asp689His)
c.2041G>C (p.Asp681His)
13g.108209240C>TCA388614418LIG4c.1828G>A (p.Asp610Asn)
c.2029G>A (p.Asp677Asn)
c.2065G>A (p.Asp689Asn)
c.2041G>A (p.Asp681Asn)
COSMIC
13g.108209241A=CA2117794103LIG4c.1827T= (p.Pro609=)
c.2028T= (p.Pro676=)
c.2064T= (p.Pro688=)
c.2040T= (p.Pro680=)
13g.108209241A>CCA484975135LIG4c.1827T>G (p.Pro609=)
c.2028T>G (p.Pro676=)
c.2064T>G (p.Pro688=)
c.2040T>G (p.Pro680=)
13g.108209241A>GCA484975134LIG4c.1827T>C (p.Pro609=)
c.2028T>C (p.Pro676=)
c.2064T>C (p.Pro688=)
c.2040T>C (p.Pro680=)
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108209241A>TCA484975133LIG4c.1827T>A (p.Pro609=)
c.2028T>A (p.Pro676=)
c.2064T>A (p.Pro688=)
c.2040T>A (p.Pro680=)
dbSNP
13g.108209242G>ACA388614420LIG4c.1826C>T (p.Pro609Leu)
c.2027C>T (p.Pro676Leu)
c.2063C>T (p.Pro688Leu)
c.2039C>T (p.Pro680Leu)
13g.108209242G>CCA388614423LIG4c.1826C>G (p.Pro609Arg)
c.2027C>G (p.Pro676Arg)
c.2063C>G (p.Pro688Arg)
c.2039C>G (p.Pro680Arg)
13g.108209242G>TCA388614425LIG4c.1826C>A (p.Pro609His)
c.2027C>A (p.Pro676His)
c.2063C>A (p.Pro688His)
c.2039C>A (p.Pro680His)
13g.108209243G>ACA388614433LIG4c.1825C>T (p.Pro609Ser)
c.2026C>T (p.Pro676Ser)
c.2062C>T (p.Pro688Ser)
c.2038C>T (p.Pro680Ser)
dbSNP
13g.108209243G>CCA388614429LIG4c.1825C>G (p.Pro609Ala)
c.2026C>G (p.Pro676Ala)
c.2062C>G (p.Pro688Ala)
c.2038C>G (p.Pro680Ala)
13g.108209243G=CA2117794104LIG4c.1825C= (p.Pro609=)
c.2026C= (p.Pro676=)
c.2062C= (p.Pro688=)
c.2038C= (p.Pro680=)
13g.108209243G>TCA388614432LIG4c.1825C>A (p.Pro609Thr)
c.2026C>A (p.Pro676Thr)
c.2062C>A (p.Pro688Thr)
c.2038C>A (p.Pro680Thr)
13g.108209244C>ACA388614435LIG4c.1824G>T (p.Lys608Asn)
c.2025G>T (p.Lys675Asn)
c.2061G>T (p.Lys687Asn)
c.2037G>T (p.Lys679Asn)
13g.108209244C>GCA388614437LIG4c.1824G>C (p.Lys608Asn)
c.2025G>C (p.Lys675Asn)
c.2061G>C (p.Lys687Asn)
c.2037G>C (p.Lys679Asn)
13g.108209244C>TCA484975144LIG4c.1824G>A (p.Lys608=)
c.2025G>A (p.Lys675=)
c.2061G>A (p.Lys687=)
c.2037G>A (p.Lys679=)
13g.108209245T>ACA388614441LIG4c.1823A>T (p.Lys608Met)
c.2024A>T (p.Lys675Met)
c.2060A>T (p.Lys687Met)
c.2036A>T (p.Lys679Met)
13g.108209245T>CCA388614446LIG4c.1823A>G (p.Lys608Arg)
c.2024A>G (p.Lys675Arg)
c.2060A>G (p.Lys687Arg)
c.2036A>G (p.Lys679Arg)
13g.108209245T>GCA388614447LIG4c.1823A>C (p.Lys608Thr)
c.2024A>C (p.Lys675Thr)
c.2060A>C (p.Lys687Thr)
c.2036A>C (p.Lys679Thr)
13g.108209246T>ACA388614450LIG4c.1822A>T (p.Lys608Ter)
c.2023A>T (p.Lys675Ter)
c.2059A>T (p.Lys687Ter)
c.2035A>T (p.Lys679Ter)
13g.108209246T>CCA388614457LIG4c.1822A>G (p.Lys608Glu)
c.2023A>G (p.Lys675Glu)
c.2059A>G (p.Lys687Glu)
c.2035A>G (p.Lys679Glu)
13g.108209246T>GCA388614453LIG4c.1822A>C (p.Lys608Gln)
c.2023A>C (p.Lys675Gln)
c.2059A>C (p.Lys687Gln)
c.2035A>C (p.Lys679Gln)
13g.108209247T>ACA484975146LIG4c.1821A>T (p.Pro607=)
c.2022A>T (p.Pro674=)
c.2058A>T (p.Pro686=)
c.2034A>T (p.Pro678=)
13g.108209247T>CCA484975148LIG4c.1821A>G (p.Pro607=)
c.2022A>G (p.Pro674=)
c.2058A>G (p.Pro686=)
c.2034A>G (p.Pro678=)
13g.108209247T>GCA484975147LIG4c.1821A>C (p.Pro607=)
c.2022A>C (p.Pro674=)
c.2058A>C (p.Pro686=)
c.2034A>C (p.Pro678=)
13g.108209247T=CA2117794105LIG4c.1821A= (p.Pro607=)
c.2022A= (p.Pro674=)
c.2058A= (p.Pro686=)
c.2034A= (p.Pro678=)
13g.108209248G>ACA388614461LIG4c.1820C>T (p.Pro607Leu)
c.2021C>T (p.Pro674Leu)
c.2057C>T (p.Pro686Leu)
c.2033C>T (p.Pro678Leu)
13g.108209248G>CCA388614464LIG4c.1820C>G (p.Pro607Arg)
c.2021C>G (p.Pro674Arg)
c.2057C>G (p.Pro686Arg)
c.2033C>G (p.Pro678Arg)
13g.108209248G>TCA388614467LIG4c.1820C>A (p.Pro607Gln)
c.2021C>A (p.Pro674Gln)
c.2057C>A (p.Pro686Gln)
c.2033C>A (p.Pro678Gln)
13g.108209249dupCA2117794106LIG4c.1820dup (p.Pro609AlafsTer2)
c.2021dup (p.Pro676AlafsTer2)
c.2057dup (p.Pro688AlafsTer2)
c.2033dup (p.Pro680AlafsTer2)
dbSNP
13g.108209249G>ACA388614472LIG4c.1819C>T (p.Pro607Ser)
c.2020C>T (p.Pro674Ser)
c.2056C>T (p.Pro686Ser)
c.2032C>T (p.Pro678Ser)
13g.108209249G>CCA388614475LIG4c.1819C>G (p.Pro607Ala)
c.2020C>G (p.Pro674Ala)
c.2056C>G (p.Pro686Ala)
c.2032C>G (p.Pro678Ala)
13g.108209249G>TCA388614477LIG4c.1819C>A (p.Pro607Thr)
c.2020C>A (p.Pro674Thr)
c.2056C>A (p.Pro686Thr)
c.2032C>A (p.Pro678Thr)
13g.108209250C>ACA388614481LIG4c.1818G>T (p.Gln606His)
c.2019G>T (p.Gln673His)
c.2055G>T (p.Gln685His)
c.2031G>T (p.Gln677His)
13g.108209250C>GCA388614483LIG4c.1818G>C (p.Gln606His)
c.2019G>C (p.Gln673His)
c.2055G>C (p.Gln685His)
c.2031G>C (p.Gln677His)
13g.108209250C>TCA484975152LIG4c.1818G>A (p.Gln606=)
c.2019G>A (p.Gln673=)
c.2055G>A (p.Gln685=)
c.2031G>A (p.Gln677=)
13g.108209251T>ACA388614487LIG4c.1817A>T (p.Gln606Leu)
c.2018A>T (p.Gln673Leu)
c.2054A>T (p.Gln685Leu)
c.2030A>T (p.Gln677Leu)
13g.108209251T>CCA388614490LIG4c.1817A>G (p.Gln606Arg)
c.2018A>G (p.Gln673Arg)
c.2054A>G (p.Gln685Arg)
c.2030A>G (p.Gln677Arg)
13g.108209251T>GCA388614498LIG4c.1817A>C (p.Gln606Pro)
c.2018A>C (p.Gln673Pro)
c.2054A>C (p.Gln685Pro)
c.2030A>C (p.Gln677Pro)
13g.108209252G>ACA388614507LIG4c.1816C>T (p.Gln606Ter)
c.2017C>T (p.Gln673Ter)
c.2053C>T (p.Gln685Ter)
c.2029C>T (p.Gln677Ter)
13g.108209252G>CCA388614504LIG4c.1816C>G (p.Gln606Glu)
c.2017C>G (p.Gln673Glu)
c.2053C>G (p.Gln685Glu)
c.2029C>G (p.Gln677Glu)
13g.108209252G>TCA388614502LIG4c.1816C>A (p.Gln606Lys)
c.2017C>A (p.Gln673Lys)
c.2053C>A (p.Gln685Lys)
c.2029C>A (p.Gln677Lys)
13g.108209253G>ACA484975159LIG4c.1815C>T (p.Ser605=)
c.2016C>T (p.Ser672=)
c.2052C>T (p.Ser684=)
c.2028C>T (p.Ser676=)
13g.108209253G>CCA206421LIG4c.1815C>G (p.Ser605Arg)
c.2016C>G (p.Ser672Arg)
c.2052C>G (p.Ser684Arg)
c.2028C>G (p.Ser676Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209253G=CA2117794107LIG4c.1815C= (p.Ser605=)
c.2016C= (p.Ser672=)
c.2052C= (p.Ser684=)
c.2028C= (p.Ser676=)
13g.108209253G>TCA388614528LIG4c.1815C>A (p.Ser605Arg)
c.2016C>A (p.Ser672Arg)
c.2052C>A (p.Ser684Arg)
c.2028C>A (p.Ser676Arg)
13g.108209254C>ACA388614532LIG4c.1814G>T (p.Ser605Ile)
c.2015G>T (p.Ser672Ile)
c.2051G>T (p.Ser684Ile)
c.2027G>T (p.Ser676Ile)
13g.108209254C>GCA388614535LIG4c.1814G>C (p.Ser605Thr)
c.2015G>C (p.Ser672Thr)
c.2051G>C (p.Ser684Thr)
c.2027G>C (p.Ser676Thr)
13g.108209254C>TCA388614538LIG4c.1814G>A (p.Ser605Asn)
c.2015G>A (p.Ser672Asn)
c.2051G>A (p.Ser684Asn)
c.2027G>A (p.Ser676Asn)
13g.108209255T>ACA388614543LIG4c.1813A>T (p.Ser605Cys)
c.2014A>T (p.Ser672Cys)
c.2050A>T (p.Ser684Cys)
c.2026A>T (p.Ser676Cys)
13g.108209255T>CCA388614546LIG4c.1813A>G (p.Ser605Gly)
c.2014A>G (p.Ser672Gly)
c.2050A>G (p.Ser684Gly)
c.2026A>G (p.Ser676Gly)
13g.108209255T>GCA388614552LIG4c.1813A>C (p.Ser605Arg)
c.2014A>C (p.Ser672Arg)
c.2050A>C (p.Ser684Arg)
c.2026A>C (p.Ser676Arg)
13g.108209256A=CA2117794108LIG4c.1812T= (p.Asp604=)
c.2013T= (p.Asp671=)
c.2049T= (p.Asp683=)
c.2025T= (p.Asp675=)
13g.108209256A>CCA388614556LIG4c.1812T>G (p.Asp604Glu)
c.2013T>G (p.Asp671Glu)
c.2049T>G (p.Asp683Glu)
c.2025T>G (p.Asp675Glu)
13g.108209256A>GCA256180214LIG4c.1812T>C (p.Asp604=)
c.2013T>C (p.Asp671=)
c.2049T>C (p.Asp683=)
c.2025T>C (p.Asp675=)
dbSNP gnomAD v3 gnomAD v4
13g.108209256A>TCA388614559LIG4c.1812T>A (p.Asp604Glu)
c.2013T>A (p.Asp671Glu)
c.2049T>A (p.Asp683Glu)
c.2025T>A (p.Asp675Glu)
13g.108209257T>ACA388614562LIG4c.1811A>T (p.Asp604Val)
c.2012A>T (p.Asp671Val)
c.2048A>T (p.Asp683Val)
c.2024A>T (p.Asp675Val)
13g.108209257T>CCA388614566LIG4c.1811A>G (p.Asp604Gly)
c.2012A>G (p.Asp671Gly)
c.2048A>G (p.Asp683Gly)
c.2024A>G (p.Asp675Gly)
13g.108209257T>GCA388614570LIG4c.1811A>C (p.Asp604Ala)
c.2012A>C (p.Asp671Ala)
c.2048A>C (p.Asp683Ala)
c.2024A>C (p.Asp675Ala)
13g.108209258C>ACA388614578LIG4c.1810G>T (p.Asp604Tyr)
c.2011G>T (p.Asp671Tyr)
c.2047G>T (p.Asp683Tyr)
c.2023G>T (p.Asp675Tyr)
13g.108209258C=CA2117794109LIG4c.1810G= (p.Asp604=)
c.2011G= (p.Asp671=)
c.2047G= (p.Asp683=)
c.2023G= (p.Asp675=)
13g.108209258C>GCA388614574LIG4c.1810G>C (p.Asp604His)
c.2011G>C (p.Asp671His)
c.2047G>C (p.Asp683His)
c.2023G>C (p.Asp675His)
13g.108209258C>TCA7043568LIG4c.1810G>A (p.Asp604Asn)
c.2011G>A (p.Asp671Asn)
c.2047G>A (p.Asp683Asn)
c.2023G>A (p.Asp675Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209259T>ACA484975165LIG4c.1809A>T (p.Thr603=)
c.2010A>T (p.Thr670=)
c.2046A>T (p.Thr682=)
c.2022A>T (p.Thr674=)
dbSNP
13g.108209259T>CCA484975167LIG4c.1809A>G (p.Thr603=)
c.2010A>G (p.Thr670=)
c.2046A>G (p.Thr682=)
c.2022A>G (p.Thr674=)
13g.108209259T>GCA484975171LIG4c.1809A>C (p.Thr603=)
c.2010A>C (p.Thr670=)
c.2046A>C (p.Thr682=)
c.2022A>C (p.Thr674=)
13g.108209259T=CA2117794110LIG4c.1809A= (p.Thr603=)
c.2010A= (p.Thr670=)
c.2046A= (p.Thr682=)
c.2022A= (p.Thr674=)
13g.108209260G>ACA388614581LIG4c.1808C>T (p.Thr603Ile)
c.2009C>T (p.Thr670Ile)
c.2045C>T (p.Thr682Ile)
c.2021C>T (p.Thr674Ile)
13g.108209260G>CCA388614583LIG4c.1808C>G (p.Thr603Arg)
c.2009C>G (p.Thr670Arg)
c.2045C>G (p.Thr682Arg)
c.2021C>G (p.Thr674Arg)
13g.108209260G>TCA388614587LIG4c.1808C>A (p.Thr603Lys)
c.2009C>A (p.Thr670Lys)
c.2045C>A (p.Thr682Lys)
c.2021C>A (p.Thr674Lys)
13g.108209261T>ACA388614589LIG4c.1807A>T (p.Thr603Ser)
c.2008A>T (p.Thr670Ser)
c.2044A>T (p.Thr682Ser)
c.2020A>T (p.Thr674Ser)
13g.108209261T>CCA388614590LIG4c.1807A>G (p.Thr603Ala)
c.2008A>G (p.Thr670Ala)
c.2044A>G (p.Thr682Ala)
c.2020A>G (p.Thr674Ala)
gnomAD v4
13g.108209261T>GCA388614592LIG4c.1807A>C (p.Thr603Pro)
c.2008A>C (p.Thr670Pro)
c.2044A>C (p.Thr682Pro)
c.2020A>C (p.Thr674Pro)
13g.108209262T>ACA484975177LIG4c.1806A>T (p.Gly602=)
c.2007A>T (p.Gly669=)
c.2043A>T (p.Gly681=)
c.2019A>T (p.Gly673=)
13g.108209262T>CCA484975175LIG4c.1806A>G (p.Gly602=)
c.2007A>G (p.Gly669=)
c.2043A>G (p.Gly681=)
c.2019A>G (p.Gly673=)
13g.108209262T>GCA484975176LIG4c.1806A>C (p.Gly602=)
c.2007A>C (p.Gly669=)
c.2043A>C (p.Gly681=)
c.2019A>C (p.Gly673=)
13g.108209263C>ACA388614597LIG4c.1805G>T (p.Gly602Val)
c.2006G>T (p.Gly669Val)
c.2042G>T (p.Gly681Val)
c.2018G>T (p.Gly673Val)
13g.108209263C>GCA388614598LIG4c.1805G>C (p.Gly602Ala)
c.2006G>C (p.Gly669Ala)
c.2042G>C (p.Gly681Ala)
c.2018G>C (p.Gly673Ala)
13g.108209263C>TCA388614602LIG4c.1805G>A (p.Gly602Glu)
c.2006G>A (p.Gly669Glu)
c.2042G>A (p.Gly681Glu)
c.2018G>A (p.Gly673Glu)
gnomAD v4
13g.108209264delCA2623644102LIG4c.1805del (p.Gly602GlufsTer21)
c.2006del (p.Gly669GlufsTer21)
c.2042del (p.Gly681GlufsTer21)
c.2018del (p.Gly673GlufsTer21)
gnomAD v4
13g.108209264C>ACA388614612LIG4c.1804G>T (p.Gly602Ter)
c.2005G>T (p.Gly669Ter)
c.2041G>T (p.Gly681Ter)
c.2017G>T (p.Gly673Ter)
13g.108209264C>GCA388614616LIG4c.1804G>C (p.Gly602Arg)
c.2005G>C (p.Gly669Arg)
c.2041G>C (p.Gly681Arg)
c.2017G>C (p.Gly673Arg)
13g.108209264C>TCA388614618LIG4c.1804G>A (p.Gly602Arg)
c.2005G>A (p.Gly669Arg)
c.2041G>A (p.Gly681Arg)
c.2017G>A (p.Gly673Arg)
gnomAD v4
13g.108209265A>CCA388614620LIG4c.1803T>G (p.Ser601Arg)
c.2004T>G (p.Ser668Arg)
c.2040T>G (p.Ser680Arg)
c.2016T>G (p.Ser672Arg)
13g.108209265A>GCA484975183LIG4c.1803T>C (p.Ser601=)
c.2004T>C (p.Ser668=)
c.2040T>C (p.Ser680=)
c.2016T>C (p.Ser672=)
13g.108209265A>TCA388614624LIG4c.1803T>A (p.Ser601Arg)
c.2004T>A (p.Ser668Arg)
c.2040T>A (p.Ser680Arg)
c.2016T>A (p.Ser672Arg)
13g.108209266C>ACA388614638LIG4c.1802G>T (p.Ser601Ile)
c.2003G>T (p.Ser668Ile)
c.2039G>T (p.Ser680Ile)
c.2015G>T (p.Ser672Ile)
13g.108209266C>GCA388614635LIG4c.1802G>C (p.Ser601Thr)
c.2003G>C (p.Ser668Thr)
c.2039G>C (p.Ser680Thr)
c.2015G>C (p.Ser672Thr)
13g.108209266C>TCA388614633LIG4c.1802G>A (p.Ser601Asn)
c.2003G>A (p.Ser668Asn)
c.2039G>A (p.Ser680Asn)
c.2015G>A (p.Ser672Asn)
gnomAD v4
13g.108209267T>ACA388614641LIG4c.1801A>T (p.Ser601Cys)
c.2002A>T (p.Ser668Cys)
c.2038A>T (p.Ser680Cys)
c.2014A>T (p.Ser672Cys)
13g.108209267T>CCA388614645LIG4c.1801A>G (p.Ser601Gly)
c.2002A>G (p.Ser668Gly)
c.2038A>G (p.Ser680Gly)
c.2014A>G (p.Ser672Gly)
13g.108209267T>GCA388614646LIG4c.1801A>C (p.Ser601Arg)
c.2002A>C (p.Ser668Arg)
c.2038A>C (p.Ser680Arg)
c.2014A>C (p.Ser672Arg)
13g.108209268C>ACA388614650LIG4c.1800G>T (p.Met600Ile)
c.2001G>T (p.Met667Ile)
c.2037G>T (p.Met679Ile)
c.2013G>T (p.Met671Ile)
13g.108209268C=CA2117794111LIG4c.1800G= (p.Met600=)
c.2001G= (p.Met667=)
c.2037G= (p.Met679=)
c.2013G= (p.Met671=)
13g.108209268C>GCA388614662LIG4c.1800G>C (p.Met600Ile)
c.2001G>C (p.Met667Ile)
c.2037G>C (p.Met679Ile)
c.2013G>C (p.Met671Ile)
gnomAD v4 COSMIC
13g.108209268C>TCA388614665LIG4c.1800G>A (p.Met600Ile)
c.2001G>A (p.Met667Ile)
c.2037G>A (p.Met679Ile)
c.2013G>A (p.Met671Ile)
dbSNP gnomAD v4
13g.108209269A=CA2117794112LIG4c.1799T= (p.Met600=)
c.2000T= (p.Met667=)
c.2036T= (p.Met679=)
c.2012T= (p.Met671=)
13g.108209269A>CCA388614670LIG4c.1799T>G (p.Met600Arg)
c.2000T>G (p.Met667Arg)
c.2036T>G (p.Met679Arg)
c.2012T>G (p.Met671Arg)
13g.108209269A>GCA388614671LIG4c.1799T>C (p.Met600Thr)
c.2000T>C (p.Met667Thr)
c.2036T>C (p.Met679Thr)
c.2012T>C (p.Met671Thr)
dbSNP
13g.108209269A>TCA388614675LIG4c.1799T>A (p.Met600Lys)
c.2000T>A (p.Met667Lys)
c.2036T>A (p.Met679Lys)
c.2012T>A (p.Met671Lys)
13g.108209270T>ACA388614682LIG4c.1798A>T (p.Met600Leu)
c.1999A>T (p.Met667Leu)
c.2035A>T (p.Met679Leu)
c.2011A>T (p.Met671Leu)
dbSNP gnomAD v3 gnomAD v4
13g.108209270T>CCA388614684LIG4c.1798A>G (p.Met600Val)
c.1999A>G (p.Met667Val)
c.2035A>G (p.Met679Val)
c.2011A>G (p.Met671Val)
gnomAD v4
13g.108209270T>GCA388614686LIG4c.1798A>C (p.Met600Leu)
c.1999A>C (p.Met667Leu)
c.2035A>C (p.Met679Leu)
c.2011A>C (p.Met671Leu)
13g.108209270T=CA2117794113LIG4c.1798A= (p.Met600=)
c.1999A= (p.Met667=)
c.2035A= (p.Met679=)
c.2011A= (p.Met671=)
13g.108209271A=CA2117794114LIG4c.1797T= (p.Val599=)
c.1998T= (p.Val666=)
c.2034T= (p.Val678=)
c.2010T= (p.Val670=)
13g.108209271A>CCA484975189LIG4c.1797T>G (p.Val599=)
c.1998T>G (p.Val666=)
c.2034T>G (p.Val678=)
c.2010T>G (p.Val670=)
13g.108209271A>GCA7043569LIG4c.1797T>C (p.Val599=)
c.1998T>C (p.Val666=)
c.2034T>C (p.Val678=)
c.2010T>C (p.Val670=)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209271A>TCA484975191LIG4c.1797T>A (p.Val599=)
c.1998T>A (p.Val666=)
c.2034T>A (p.Val678=)
c.2010T>A (p.Val670=)
dbSNP gnomAD v3 gnomAD v4
13g.108209272A>CCA388614693LIG4c.1796T>G (p.Val599Gly)
c.1997T>G (p.Val666Gly)
c.2033T>G (p.Val678Gly)
c.2009T>G (p.Val670Gly)
13g.108209272A>GCA388614690LIG4c.1796T>C (p.Val599Ala)
c.1997T>C (p.Val666Ala)
c.2033T>C (p.Val678Ala)
c.2009T>C (p.Val670Ala)
13g.108209272A>TCA388614688LIG4c.1796T>A (p.Val599Asp)
c.1997T>A (p.Val666Asp)
c.2033T>A (p.Val678Asp)
c.2009T>A (p.Val670Asp)
13g.108209273C>ACA388614701LIG4c.1795G>T (p.Val599Phe)
c.1996G>T (p.Val666Phe)
c.2032G>T (p.Val678Phe)
c.2008G>T (p.Val670Phe)
13g.108209273C>GCA388614703LIG4c.1795G>C (p.Val599Leu)
c.1996G>C (p.Val666Leu)
c.2032G>C (p.Val678Leu)
c.2008G>C (p.Val670Leu)
13g.108209273C>TCA388614706LIG4c.1795G>A (p.Val599Ile)
c.1996G>A (p.Val666Ile)
c.2032G>A (p.Val678Ile)
c.2008G>A (p.Val670Ile)
13g.108209273_108209274delinsCACA2117794115LIG4c.1794_1795delinsTG (p.Cys598=)
c.1995_1996delinsTG (p.Cys665=)
c.2031_2032delinsTG (p.Cys677=)
c.2007_2008delinsTG (p.Cys669=)
13g.108209274delCA694834712LIG4c.1794del (p.Cys598TrpfsTer3)
c.1995del (p.Cys665TrpfsTer3)
c.2031del (p.Cys677TrpfsTer3)
c.2007del (p.Cys669TrpfsTer3)
dbSNP gnomAD v3 gnomAD v4
13g.108209274A>CCA388614707LIG4c.1794T>G (p.Cys598Trp)
c.1995T>G (p.Cys665Trp)
c.2031T>G (p.Cys677Trp)
c.2007T>G (p.Cys669Trp)
13g.108209274A>GCA484975196LIG4c.1794T>C (p.Cys598=)
c.1995T>C (p.Cys665=)
c.2031T>C (p.Cys677=)
c.2007T>C (p.Cys669=)
13g.108209274A>TCA388614713LIG4c.1794T>A (p.Cys598Ter)
c.1995T>A (p.Cys665Ter)
c.2031T>A (p.Cys677Ter)
c.2007T>A (p.Cys669Ter)
13g.108209275C>ACA388614716LIG4c.1793G>T (p.Cys598Phe)
c.1994G>T (p.Cys665Phe)
c.2030G>T (p.Cys677Phe)
c.2006G>T (p.Cys669Phe)
13g.108209275C>GCA388614718LIG4c.1793G>C (p.Cys598Ser)
c.1994G>C (p.Cys665Ser)
c.2030G>C (p.Cys677Ser)
c.2006G>C (p.Cys669Ser)
13g.108209275C>TCA388614720LIG4c.1793G>A (p.Cys598Tyr)
c.1994G>A (p.Cys665Tyr)
c.2030G>A (p.Cys677Tyr)
c.2006G>A (p.Cys669Tyr)
13g.108209276A>CCA388614723LIG4c.1792T>G (p.Cys598Gly)
c.1993T>G (p.Cys665Gly)
c.2029T>G (p.Cys677Gly)
c.2005T>G (p.Cys669Gly)
13g.108209276A>GCA388614726LIG4c.1792T>C (p.Cys598Arg)
c.1993T>C (p.Cys665Arg)
c.2029T>C (p.Cys677Arg)
c.2005T>C (p.Cys669Arg)
13g.108209276A>TCA388614728LIG4c.1792T>A (p.Cys598Ser)
c.1993T>A (p.Cys665Ser)
c.2029T>A (p.Cys677Ser)
c.2005T>A (p.Cys669Ser)
13g.108209277A=CA2117794116LIG4c.1791T= (p.Phe597=)
c.1992T= (p.Phe664=)
c.2028T= (p.Phe676=)
c.2004T= (p.Phe668=)
13g.108209277A>CCA388614731LIG4c.1791T>G (p.Phe597Leu)
c.1992T>G (p.Phe664Leu)
c.2028T>G (p.Phe676Leu)
c.2004T>G (p.Phe668Leu)
gnomAD v4
13g.108209277A>GCA484975209LIG4c.1791T>C (p.Phe597=)
c.1992T>C (p.Phe664=)
c.2028T>C (p.Phe676=)
c.2004T>C (p.Phe668=)
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.108209277A>TCA388614732LIG4c.1791T>A (p.Phe597Leu)
c.1992T>A (p.Phe664Leu)
c.2028T>A (p.Phe676Leu)
c.2004T>A (p.Phe668Leu)
13g.108209278A>CCA388614739LIG4c.1790T>G (p.Phe597Cys)
c.1991T>G (p.Phe664Cys)
c.2027T>G (p.Phe676Cys)
c.2003T>G (p.Phe668Cys)
13g.108209278A>GCA388614745LIG4c.1790T>C (p.Phe597Ser)
c.1991T>C (p.Phe664Ser)
c.2027T>C (p.Phe676Ser)
c.2003T>C (p.Phe668Ser)
13g.108209278A>TCA388614735LIG4c.1790T>A (p.Phe597Tyr)
c.1991T>A (p.Phe664Tyr)
c.2027T>A (p.Phe676Tyr)
c.2003T>A (p.Phe668Tyr)
13g.108209279A>CCA388614746LIG4c.1789T>G (p.Phe597Val)
c.1990T>G (p.Phe664Val)
c.2026T>G (p.Phe676Val)
c.2002T>G (p.Phe668Val)
gnomAD v4
13g.108209279A>GCA388614750LIG4c.1789T>C (p.Phe597Leu)
c.1990T>C (p.Phe664Leu)
c.2026T>C (p.Phe676Leu)
c.2002T>C (p.Phe668Leu)
13g.108209279A>TCA388614748LIG4c.1789T>A (p.Phe597Ile)
c.1990T>A (p.Phe664Ile)
c.2026T>A (p.Phe676Ile)
c.2002T>A (p.Phe668Ile)
13g.108209279_108209281delinsACTCA2117794117LIG4c.1787_1789delinsAGT (p.Glu596=)
c.1988_1990delinsAGT (p.Glu663=)
c.2024_2026delinsAGT (p.Glu675=)
c.2000_2002delinsAGT (p.Glu667=)
13g.108209280C>ACA388614755LIG4c.1788G>T (p.Glu596Asp)
c.1989G>T (p.Glu663Asp)
c.2025G>T (p.Glu675Asp)
c.2001G>T (p.Glu667Asp)
13g.108209280C=CA2117794119LIG4c.1788G= (p.Glu596=)
c.1989G= (p.Glu663=)
c.2025G= (p.Glu675=)
c.2001G= (p.Glu667=)
13g.108209280C>GCA7043570LIG4c.1788G>C (p.Glu596Asp)
c.1989G>C (p.Glu663Asp)
c.2025G>C (p.Glu675Asp)
c.2001G>C (p.Glu667Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209280C>TCA484975216LIG4c.1788G>A (p.Glu596=)
c.1989G>A (p.Glu663=)
c.2025G>A (p.Glu675=)
c.2001G>A (p.Glu667=)
13g.108209282_108209283delCA2117794118LIG4c.1787_1788del (p.Glu596ValfsTer9)
c.1988_1989del (p.Glu663ValfsTer9)
c.2024_2025del (p.Glu675ValfsTer9)
c.2000_2001del (p.Glu667ValfsTer9)
dbSNP
13g.108209281T>ACA388614763LIG4c.1787A>T (p.Glu596Val)
c.1988A>T (p.Glu663Val)
c.2024A>T (p.Glu675Val)
c.2000A>T (p.Glu667Val)
13g.108209281T>CCA388614766LIG4c.1787A>G (p.Glu596Gly)
c.1988A>G (p.Glu663Gly)
c.2024A>G (p.Glu675Gly)
c.2000A>G (p.Glu667Gly)
13g.108209281T>GCA388614769LIG4c.1787A>C (p.Glu596Ala)
c.1988A>C (p.Glu663Ala)
c.2024A>C (p.Glu675Ala)
c.2000A>C (p.Glu667Ala)
13g.108209282C>ACA388614773LIG4c.1786G>T (p.Glu596Ter)
c.1987G>T (p.Glu663Ter)
c.2023G>T (p.Glu675Ter)
c.1999G>T (p.Glu667Ter)
13g.108209282C>GCA388614776LIG4c.1786G>C (p.Glu596Gln)
c.1987G>C (p.Glu663Gln)
c.2023G>C (p.Glu675Gln)
c.1999G>C (p.Glu667Gln)
13g.108209282C>TCA388614782LIG4c.1786G>A (p.Glu596Lys)
c.1987G>A (p.Glu663Lys)
c.2023G>A (p.Glu675Lys)
c.1999G>A (p.Glu667Lys)
13g.108209283T>ACA484975222LIG4c.1785A>T (p.Val595=)
c.1986A>T (p.Val662=)
c.2022A>T (p.Val674=)
c.1998A>T (p.Val666=)
13g.108209283T>CCA484975221LIG4c.1785A>G (p.Val595=)
c.1986A>G (p.Val662=)
c.2022A>G (p.Val674=)
c.1998A>G (p.Val666=)
13g.108209283T>GCA484975220LIG4c.1785A>C (p.Val595=)
c.1986A>C (p.Val662=)
c.2022A>C (p.Val674=)
c.1998A>C (p.Val666=)
13g.108209284A=CA2117794120LIG4c.1784T= (p.Val595=)
c.1985T= (p.Val662=)
c.2021T= (p.Val674=)
c.1997T= (p.Val666=)
13g.108209284A>CCA388614784LIG4c.1784T>G (p.Val595Gly)
c.1985T>G (p.Val662Gly)
c.2021T>G (p.Val674Gly)
c.1997T>G (p.Val666Gly)
13g.108209284A>GCA256180258LIG4c.1784T>C (p.Val595Ala)
c.1985T>C (p.Val662Ala)
c.2021T>C (p.Val674Ala)
c.1997T>C (p.Val666Ala)
dbSNP gnomAD v4
13g.108209284A>TCA388614788LIG4c.1784T>A (p.Val595Glu)
c.1985T>A (p.Val662Glu)
c.2021T>A (p.Val674Glu)
c.1997T>A (p.Val666Glu)
13g.108209285C>ACA388614797LIG4c.1783G>T (p.Val595Leu)
c.1984G>T (p.Val662Leu)
c.2020G>T (p.Val674Leu)
c.1996G>T (p.Val666Leu)
gnomAD v4
13g.108209285C>GCA388614796LIG4c.1783G>C (p.Val595Leu)
c.1984G>C (p.Val662Leu)
c.2020G>C (p.Val674Leu)
c.1996G>C (p.Val666Leu)
13g.108209285C>TCA388614794LIG4c.1783G>A (p.Val595Ile)
c.1984G>A (p.Val662Ile)
c.2020G>A (p.Val674Ile)
c.1996G>A (p.Val666Ile)
13g.108209286A=CA2117794121LIG4c.1782T= (p.Asp594=)
c.1983T= (p.Asp661=)
c.2019T= (p.Asp673=)
c.1995T= (p.Asp665=)
13g.108209286A>CCA388614801LIG4c.1782T>G (p.Asp594Glu)
c.1983T>G (p.Asp661Glu)
c.2019T>G (p.Asp673Glu)
c.1995T>G (p.Asp665Glu)
13g.108209286A>GCA7043571LIG4c.1782T>C (p.Asp594=)
c.1983T>C (p.Asp661=)
c.2019T>C (p.Asp673=)
c.1995T>C (p.Asp665=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209286A>TCA388614806LIG4c.1782T>A (p.Asp594Glu)
c.1983T>A (p.Asp661Glu)
c.2019T>A (p.Asp673Glu)
c.1995T>A (p.Asp665Glu)
13g.108209287delCA2695218921LIG4c.1781del (p.Asp594ValfsTer2)
c.1982del (p.Asp661ValfsTer2)
c.2018del (p.Asp673ValfsTer2)
c.1994del (p.Asp665ValfsTer2)
13g.108209287T>ACA388614816LIG4c.1781A>T (p.Asp594Val)
c.1982A>T (p.Asp661Val)
c.2018A>T (p.Asp673Val)
c.1994A>T (p.Asp665Val)
dbSNP
13g.108209287T>CCA388614819LIG4c.1781A>G (p.Asp594Gly)
c.1982A>G (p.Asp661Gly)
c.2018A>G (p.Asp673Gly)
c.1994A>G (p.Asp665Gly)
13g.108209287T>GCA388614822LIG4c.1781A>C (p.Asp594Ala)
c.1982A>C (p.Asp661Ala)
c.2018A>C (p.Asp673Ala)
c.1994A>C (p.Asp665Ala)
ClinVar dbSNP
13g.108209287T=CA2117794122LIG4c.1781A= (p.Asp594=)
c.1982A= (p.Asp661=)
c.2018A= (p.Asp673=)
c.1994A= (p.Asp665=)
13g.108209288delCA2623644103LIG4c.1780del (p.Asp594MetfsTer2)
c.1981del (p.Asp661MetfsTer2)
c.2017del (p.Asp673MetfsTer2)
c.1993del (p.Asp665MetfsTer2)
gnomAD v4
13g.108209288C>ACA388614826LIG4c.1780G>T (p.Asp594Tyr)
c.1981G>T (p.Asp661Tyr)
c.2017G>T (p.Asp673Tyr)
c.1993G>T (p.Asp665Tyr)
COSMIC
13g.108209288C=CA2117794123LIG4c.1780G= (p.Asp594=)
c.1981G= (p.Asp661=)
c.2017G= (p.Asp673=)
c.1993G= (p.Asp665=)
13g.108209288C>GCA388614829LIG4c.1780G>C (p.Asp594His)
c.1981G>C (p.Asp661His)
c.2017G>C (p.Asp673His)
c.1993G>C (p.Asp665His)
13g.108209288C>TCA388614833LIG4c.1780G>A (p.Asp594Asn)
c.1981G>A (p.Asp661Asn)
c.2017G>A (p.Asp673Asn)
c.1993G>A (p.Asp665Asn)
dbSNP gnomAD v3 gnomAD v4
13g.108209289T>ACA388614838LIG4c.1779A>T (p.Glu593Asp)
c.1980A>T (p.Glu660Asp)
c.2016A>T (p.Glu672Asp)
c.1992A>T (p.Glu664Asp)
13g.108209289T>CCA256180262LIG4c.1779A>G (p.Glu593=)
c.1980A>G (p.Glu660=)
c.2016A>G (p.Glu672=)
c.1992A>G (p.Glu664=)
dbSNP
13g.108209289T>GCA388614843LIG4c.1779A>C (p.Glu593Asp)
c.1980A>C (p.Glu660Asp)
c.2016A>C (p.Glu672Asp)
c.1992A>C (p.Glu664Asp)
13g.108209289T=CA2018068608LIG4c.1779A= (p.Glu593=)
c.1980A= (p.Glu660=)
c.2016A= (p.Glu672=)
c.1992A= (p.Glu664=)
13g.108209290T>ACA388614856LIG4c.1778A>T (p.Glu593Val)
c.1979A>T (p.Glu660Val)
c.2015A>T (p.Glu672Val)
c.1991A>T (p.Glu664Val)
13g.108209290T>CCA388614850LIG4c.1778A>G (p.Glu593Gly)
c.1979A>G (p.Glu660Gly)
c.2015A>G (p.Glu672Gly)
c.1991A>G (p.Glu664Gly)
13g.108209290T>GCA388614847LIG4c.1778A>C (p.Glu593Ala)
c.1979A>C (p.Glu660Ala)
c.2015A>C (p.Glu672Ala)
c.1991A>C (p.Glu664Ala)
13g.108209291C>ACA388614860LIG4c.1777G>T (p.Glu593Ter)
c.1978G>T (p.Glu660Ter)
c.2014G>T (p.Glu672Ter)
c.1990G>T (p.Glu664Ter)
dbSNP gnomAD v2 gnomAD v4
13g.108209291C=CA2117794124LIG4c.1777G= (p.Glu593=)
c.1978G= (p.Glu660=)
c.2014G= (p.Glu672=)
c.1990G= (p.Glu664=)
13g.108209291C>GCA388614863LIG4c.1777G>C (p.Glu593Gln)
c.1978G>C (p.Glu660Gln)
c.2014G>C (p.Glu672Gln)
c.1990G>C (p.Glu664Gln)
13g.108209291C>TCA388614869LIG4c.1777G>A (p.Glu593Lys)
c.1978G>A (p.Glu660Lys)
c.2014G>A (p.Glu672Lys)
c.1990G>A (p.Glu664Lys)
13g.108209292A>CCA388614872LIG4c.1776T>G (p.Phe592Leu)
c.1977T>G (p.Phe659Leu)
c.2013T>G (p.Phe671Leu)
c.1989T>G (p.Phe663Leu)
13g.108209292A>GCA484975246LIG4c.1776T>C (p.Phe592=)
c.1977T>C (p.Phe659=)
c.2013T>C (p.Phe671=)
c.1989T>C (p.Phe663=)
13g.108209292A>TCA388614880LIG4c.1776T>A (p.Phe592Leu)
c.1977T>A (p.Phe659Leu)
c.2013T>A (p.Phe671Leu)
c.1989T>A (p.Phe663Leu)
13g.108209293A>CCA388614885LIG4c.1775T>G (p.Phe592Cys)
c.1976T>G (p.Phe659Cys)
c.2012T>G (p.Phe671Cys)
c.1988T>G (p.Phe663Cys)
13g.108209293A>GCA388614888LIG4c.1775T>C (p.Phe592Ser)
c.1976T>C (p.Phe659Ser)
c.2012T>C (p.Phe671Ser)
c.1988T>C (p.Phe663Ser)
gnomAD v4
13g.108209293A>TCA388614894LIG4c.1775T>A (p.Phe592Tyr)
c.1976T>A (p.Phe659Tyr)
c.2012T>A (p.Phe671Tyr)
c.1988T>A (p.Phe663Tyr)
13g.108209294A>CCA388614895LIG4c.1774T>G (p.Phe592Val)
c.1975T>G (p.Phe659Val)
c.2011T>G (p.Phe671Val)
c.1987T>G (p.Phe663Val)
13g.108209294A>GCA388614897LIG4c.1774T>C (p.Phe592Leu)
c.1975T>C (p.Phe659Leu)
c.2011T>C (p.Phe671Leu)
c.1987T>C (p.Phe663Leu)
13g.108209294A>TCA388614900LIG4c.1774T>A (p.Phe592Ile)
c.1975T>A (p.Phe659Ile)
c.2011T>A (p.Phe671Ile)
c.1987T>A (p.Phe663Ile)
13g.108209295T>ACA484975256LIG4c.1773A>T (p.Ile591=)
c.1974A>T (p.Ile658=)
c.2010A>T (p.Ile670=)
c.1986A>T (p.Ile662=)
13g.108209295T>CCA7043572LIG4c.1773A>G (p.Ile591Met)
c.1974A>G (p.Ile658Met)
c.2010A>G (p.Ile670Met)
c.1986A>G (p.Ile662Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209295T>GCA484975257LIG4c.1773A>C (p.Ile591=)
c.1974A>C (p.Ile658=)
c.2010A>C (p.Ile670=)
c.1986A>C (p.Ile662=)
13g.108209295T=CA2117794125LIG4c.1773A= (p.Ile591=)
c.1974A= (p.Ile658=)
c.2010A= (p.Ile670=)
c.1986A= (p.Ile662=)
13g.108209296delCA2623644104LIG4c.1772del (p.Ile591AsnfsTer5)
c.1973del (p.Ile658AsnfsTer5)
c.2009del (p.Ile670AsnfsTer5)
c.1985del (p.Ile662AsnfsTer5)
ClinVar gnomAD v4
13g.108209296A=CA2117794126LIG4c.1772T= (p.Ile591=)
c.1973T= (p.Ile658=)
c.2009T= (p.Ile670=)
c.1985T= (p.Ile662=)
13g.108209296A>CCA388614911LIG4c.1772T>G (p.Ile591Arg)
c.1973T>G (p.Ile658Arg)
c.2009T>G (p.Ile670Arg)
c.1985T>G (p.Ile662Arg)
13g.108209296A>GCA388614908LIG4c.1772T>C (p.Ile591Thr)
c.1973T>C (p.Ile658Thr)
c.2009T>C (p.Ile670Thr)
c.1985T>C (p.Ile662Thr)
ClinVar dbSNP gnomAD v4
13g.108209296A>TCA388614905LIG4c.1772T>A (p.Ile591Lys)
c.1973T>A (p.Ile658Lys)
c.2009T>A (p.Ile670Lys)
c.1985T>A (p.Ile662Lys)
13g.108209297T>ACA388614931LIG4c.1771A>T (p.Ile591Leu)
c.1972A>T (p.Ile658Leu)
c.2008A>T (p.Ile670Leu)
c.1984A>T (p.Ile662Leu)
13g.108209297T>CCA7043573LIG4c.1771A>G (p.Ile591Val)
c.1972A>G (p.Ile658Val)
c.2008A>G (p.Ile670Val)
c.1984A>G (p.Ile662Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209297T>GCA388614939LIG4c.1771A>C (p.Ile591Leu)
c.1972A>C (p.Ile658Leu)
c.2008A>C (p.Ile670Leu)
c.1984A>C (p.Ile662Leu)
13g.108209297T=CA2117794127LIG4c.1771A= (p.Ile591=)
c.1972A= (p.Ile658=)
c.2008A= (p.Ile670=)
c.1984A= (p.Ile662=)
13g.108209298A=CA2117794128LIG4c.1770T= (p.Asn590=)
c.1971T= (p.Asn657=)
c.2007T= (p.Asn669=)
c.1983T= (p.Asn661=)
13g.108209298A>CCA388614942LIG4c.1770T>G (p.Asn590Lys)
c.1971T>G (p.Asn657Lys)
c.2007T>G (p.Asn669Lys)
c.1983T>G (p.Asn661Lys)
13g.108209298A>GCA7043574LIG4c.1770T>C (p.Asn590=)
c.1971T>C (p.Asn657=)
c.2007T>C (p.Asn669=)
c.1983T>C (p.Asn661=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209298A>TCA388614950LIG4c.1770T>A (p.Asn590Lys)
c.1971T>A (p.Asn657Lys)
c.2007T>A (p.Asn669Lys)
c.1983T>A (p.Asn661Lys)
13g.108209299T>ACA388614955LIG4c.1769A>T (p.Asn590Ile)
c.1970A>T (p.Asn657Ile)
c.2006A>T (p.Asn669Ile)
c.1982A>T (p.Asn661Ile)
13g.108209299T>CCA7043575LIG4c.1769A>G (p.Asn590Ser)
c.1970A>G (p.Asn657Ser)
c.2006A>G (p.Asn669Ser)
c.1982A>G (p.Asn661Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209299T>GCA388614959LIG4c.1769A>C (p.Asn590Thr)
c.1970A>C (p.Asn657Thr)
c.2006A>C (p.Asn669Thr)
c.1982A>C (p.Asn661Thr)
13g.108209299T=CA2117794129LIG4c.1769A= (p.Asn590=)
c.1970A= (p.Asn657=)
c.2006A= (p.Asn669=)
c.1982A= (p.Asn661=)
13g.108209300T>ACA388614966LIG4c.1768A>T (p.Asn590Tyr)
c.1969A>T (p.Asn657Tyr)
c.2005A>T (p.Asn669Tyr)
c.1981A>T (p.Asn661Tyr)
13g.108209300T>CCA388614970LIG4c.1768A>G (p.Asn590Asp)
c.1969A>G (p.Asn657Asp)
c.2005A>G (p.Asn669Asp)
c.1981A>G (p.Asn661Asp)
13g.108209300T>GCA388614972LIG4c.1768A>C (p.Asn590His)
c.1969A>C (p.Asn657His)
c.2005A>C (p.Asn669His)
c.1981A>C (p.Asn661His)
13g.108209301A=CA2117794130LIG4c.1767T= (p.Ser589=)
c.1968T= (p.Ser656=)
c.2004T= (p.Ser668=)
c.1980T= (p.Ser660=)
13g.108209301A>CCA484975269LIG4c.1767T>G (p.Ser589=)
c.1968T>G (p.Ser656=)
c.2004T>G (p.Ser668=)
c.1980T>G (p.Ser660=)
13g.108209301A>GCA484975271LIG4c.1767T>C (p.Ser589=)
c.1968T>C (p.Ser656=)
c.2004T>C (p.Ser668=)
c.1980T>C (p.Ser660=)
13g.108209301A>TCA7043576LIG4c.1767T>A (p.Ser589=)
c.1968T>A (p.Ser656=)
c.2004T>A (p.Ser668=)
c.1980T>A (p.Ser660=)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209302G>ACA388614980LIG4c.1766C>T (p.Ser589Phe)
c.1967C>T (p.Ser656Phe)
c.2003C>T (p.Ser668Phe)
c.1979C>T (p.Ser660Phe)
13g.108209302G>CCA388614984LIG4c.1766C>G (p.Ser589Cys)
c.1967C>G (p.Ser656Cys)
c.2003C>G (p.Ser668Cys)
c.1979C>G (p.Ser660Cys)
13g.108209302G>TCA388614977LIG4c.1766C>A (p.Ser589Tyr)
c.1967C>A (p.Ser656Tyr)
c.2003C>A (p.Ser668Tyr)
c.1979C>A (p.Ser660Tyr)
13g.108209303A>CCA388614989LIG4c.1765T>G (p.Ser589Ala)
c.1966T>G (p.Ser656Ala)
c.2002T>G (p.Ser668Ala)
c.1978T>G (p.Ser660Ala)
13g.108209303A>GCA388614986LIG4c.1765T>C (p.Ser589Pro)
c.1966T>C (p.Ser656Pro)
c.2002T>C (p.Ser668Pro)
c.1978T>C (p.Ser660Pro)
13g.108209303A>TCA388614993LIG4c.1765T>A (p.Ser589Thr)
c.1966T>A (p.Ser656Thr)
c.2002T>A (p.Ser668Thr)
c.1978T>A (p.Ser660Thr)
13g.108209304A=CA2117794131LIG4c.1764T= (p.Ile588=)
c.1965T= (p.Ile655=)
c.2001T= (p.Ile667=)
c.1977T= (p.Ile659=)
13g.108209304A>CCA7043577LIG4c.1764T>G (p.Ile588Met)
c.1965T>G (p.Ile655Met)
c.2001T>G (p.Ile667Met)
c.1977T>G (p.Ile659Met)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209304A>GCA484975278LIG4c.1764T>C (p.Ile588=)
c.1965T>C (p.Ile655=)
c.2001T>C (p.Ile667=)
c.1977T>C (p.Ile659=)
13g.108209304A>TCA484975282LIG4c.1764T>A (p.Ile588=)
c.1965T>A (p.Ile655=)
c.2001T>A (p.Ile667=)
c.1977T>A (p.Ile659=)
13g.108209305A>CCA388615005LIG4c.1763T>G (p.Ile588Ser)
c.1964T>G (p.Ile655Ser)
c.2000T>G (p.Ile667Ser)
c.1976T>G (p.Ile659Ser)
13g.108209305A>GCA388614999LIG4c.1763T>C (p.Ile588Thr)
c.1964T>C (p.Ile655Thr)
c.2000T>C (p.Ile667Thr)
c.1976T>C (p.Ile659Thr)
13g.108209305A>TCA388615003LIG4c.1763T>A (p.Ile588Asn)
c.1964T>A (p.Ile655Asn)
c.2000T>A (p.Ile667Asn)
c.1976T>A (p.Ile659Asn)
13g.108209306T>ACA388615008LIG4c.1762A>T (p.Ile588Phe)
c.1963A>T (p.Ile655Phe)
c.1999A>T (p.Ile667Phe)
c.1975A>T (p.Ile659Phe)
13g.108209306T>CCA388615009LIG4c.1762A>G (p.Ile588Val)
c.1963A>G (p.Ile655Val)
c.1999A>G (p.Ile667Val)
c.1975A>G (p.Ile659Val)
13g.108209306T>GCA388615013LIG4c.1762A>C (p.Ile588Leu)
c.1963A>C (p.Ile655Leu)
c.1999A>C (p.Ile667Leu)
c.1975A>C (p.Ile659Leu)
13g.108209307T>ACA388615017LIG4c.1761A>T (p.Lys587Asn)
c.1962A>T (p.Lys654Asn)
c.1998A>T (p.Lys666Asn)
c.1974A>T (p.Lys658Asn)
13g.108209307T>CCA484975293LIG4c.1761A>G (p.Lys587=)
c.1962A>G (p.Lys654=)
c.1998A>G (p.Lys666=)
c.1974A>G (p.Lys658=)
13g.108209307T>GCA7043578LIG4c.1761A>C (p.Lys587Asn)
c.1962A>C (p.Lys654Asn)
c.1998A>C (p.Lys666Asn)
c.1974A>C (p.Lys658Asn)
dbSNP ExAC gnomAD v3 gnomAD v4
13g.108209307T=CA2117794132LIG4c.1761A= (p.Lys587=)
c.1962A= (p.Lys654=)
c.1998A= (p.Lys666=)
c.1974A= (p.Lys658=)
13g.108209308T>ACA388615030LIG4c.1760A>T (p.Lys587Ile)
c.1961A>T (p.Lys654Ile)
c.1997A>T (p.Lys666Ile)
c.1973A>T (p.Lys658Ile)
13g.108209308T>CCA388615024LIG4c.1760A>G (p.Lys587Arg)
c.1961A>G (p.Lys654Arg)
c.1997A>G (p.Lys666Arg)
c.1973A>G (p.Lys658Arg)
13g.108209308T>GCA388615027LIG4c.1760A>C (p.Lys587Thr)
c.1961A>C (p.Lys654Thr)
c.1997A>C (p.Lys666Thr)
c.1973A>C (p.Lys658Thr)
gnomAD v4
13g.108209309T>ACA388615032LIG4c.1759A>T (p.Lys587Ter)
c.1960A>T (p.Lys654Ter)
c.1996A>T (p.Lys666Ter)
c.1972A>T (p.Lys658Ter)
13g.108209309T>CCA388615048LIG4c.1759A>G (p.Lys587Glu)
c.1960A>G (p.Lys654Glu)
c.1996A>G (p.Lys666Glu)
c.1972A>G (p.Lys658Glu)
dbSNP gnomAD v2 gnomAD v4
13g.108209309T>GCA388615052LIG4c.1759A>C (p.Lys587Gln)
c.1960A>C (p.Lys654Gln)
c.1996A>C (p.Lys666Gln)
c.1972A>C (p.Lys658Gln)
13g.108209309T=CA2117794133LIG4c.1759A= (p.Lys587=)
c.1960A= (p.Lys654=)
c.1996A= (p.Lys666=)
c.1972A= (p.Lys658=)
13g.108209310G>ACA484975298LIG4c.1758C>T (p.Asn586=)
c.1959C>T (p.Asn653=)
c.1995C>T (p.Asn665=)
c.1971C>T (p.Asn657=)
gnomAD v4
13g.108209310G>CCA388615056LIG4c.1758C>G (p.Asn586Lys)
c.1959C>G (p.Asn653Lys)
c.1995C>G (p.Asn665Lys)
c.1971C>G (p.Asn657Lys)
gnomAD v4
13g.108209310G>TCA388615070LIG4c.1758C>A (p.Asn586Lys)
c.1959C>A (p.Asn653Lys)
c.1995C>A (p.Asn665Lys)
c.1971C>A (p.Asn657Lys)
13g.108209310_108209311delinsGTCA2117794134LIG4c.1757_1758delinsAC (p.Asn586=)
c.1958_1959delinsAC (p.Asn653=)
c.1994_1995delinsAC (p.Asn665=)
c.1970_1971delinsAC (p.Asn657=)
13g.108209311T>ACA388615073LIG4c.1757A>T (p.Asn586Ile)
c.1958A>T (p.Asn653Ile)
c.1994A>T (p.Asn665Ile)
c.1970A>T (p.Asn657Ile)
13g.108209311T>CCA388615085LIG4c.1757A>G (p.Asn586Ser)
c.1958A>G (p.Asn653Ser)
c.1994A>G (p.Asn665Ser)
c.1970A>G (p.Asn657Ser)
gnomAD v4
13g.108209311T>GCA388615081LIG4c.1757A>C (p.Asn586Thr)
c.1958A>C (p.Asn653Thr)
c.1994A>C (p.Asn665Thr)
c.1970A>C (p.Asn657Thr)
13g.108209312delCA612360448LIG4c.1757del (p.Asn586ThrfsTer10)
c.1958del (p.Asn653ThrfsTer10)
c.1994del (p.Asn665ThrfsTer10)
c.1970del (p.Asn657ThrfsTer10)
dbSNP gnomAD v2 gnomAD v4
13g.108209312T>ACA388615087LIG4c.1756A>T (p.Asn586Tyr)
c.1957A>T (p.Asn653Tyr)
c.1993A>T (p.Asn665Tyr)
c.1969A>T (p.Asn657Tyr)
13g.108209312T>CCA388615088LIG4c.1756A>G (p.Asn586Asp)
c.1957A>G (p.Asn653Asp)
c.1993A>G (p.Asn665Asp)
c.1969A>G (p.Asn657Asp)
13g.108209312T>GCA388615091LIG4c.1756A>C (p.Asn586His)
c.1957A>C (p.Asn653His)
c.1993A>C (p.Asn665His)
c.1969A>C (p.Asn657His)
13g.108209313A>CCA484975303LIG4c.1755T>G (p.Val585=)
c.1956T>G (p.Val652=)
c.1992T>G (p.Val664=)
c.1968T>G (p.Val656=)
13g.108209313A>GCA484975305LIG4c.1755T>C (p.Val585=)
c.1956T>C (p.Val652=)
c.1992T>C (p.Val664=)
c.1968T>C (p.Val656=)
13g.108209313A>TCA484975307LIG4c.1755T>A (p.Val585=)
c.1956T>A (p.Val652=)
c.1992T>A (p.Val664=)
c.1968T>A (p.Val656=)
13g.108209314A>CCA388615099LIG4c.1754T>G (p.Val585Gly)
c.1955T>G (p.Val652Gly)
c.1991T>G (p.Val664Gly)
c.1967T>G (p.Val656Gly)
13g.108209314A>GCA388615100LIG4c.1754T>C (p.Val585Ala)
c.1955T>C (p.Val652Ala)
c.1991T>C (p.Val664Ala)
c.1967T>C (p.Val656Ala)
13g.108209314A>TCA388615109LIG4c.1754T>A (p.Val585Asp)
c.1955T>A (p.Val652Asp)
c.1991T>A (p.Val664Asp)
c.1967T>A (p.Val656Asp)
13g.108209315C>ACA388615112LIG4c.1753G>T (p.Val585Phe)
c.1954G>T (p.Val652Phe)
c.1990G>T (p.Val664Phe)
c.1966G>T (p.Val656Phe)
13g.108209315C=CA2117794135LIG4c.1753G= (p.Val585=)
c.1954G= (p.Val652=)
c.1990G= (p.Val664=)
c.1966G= (p.Val656=)
13g.108209315C>GCA388615114LIG4c.1753G>C (p.Val585Leu)
c.1954G>C (p.Val652Leu)
c.1990G>C (p.Val664Leu)
c.1966G>C (p.Val656Leu)
13g.108209315C>TCA7043579LIG4c.1753G>A (p.Val585Ile)
c.1954G>A (p.Val652Ile)
c.1990G>A (p.Val664Ile)
c.1966G>A (p.Val656Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108209316G>ACA7043580LIG4c.1752C>T (p.Asn584=)
c.1953C>T (p.Asn651=)
c.1989C>T (p.Asn663=)
c.1965C>T (p.Asn655=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108209316G>CCA388615121LIG4c.1752C>G (p.Asn584Lys)
c.1953C>G (p.Asn651Lys)
c.1989C>G (p.Asn663Lys)
c.1965C>G (p.Asn655Lys)
13g.108209316G=CA2117794136LIG4c.1752C= (p.Asn584=)
c.1953C= (p.Asn651=)
c.1989C= (p.Asn663=)
c.1965C= (p.Asn655=)
13g.108209316G>TCA388615125LIG4c.1752C>A (p.Asn584Lys)
c.1953C>A (p.Asn651Lys)
c.1989C>A (p.Asn663Lys)
c.1965C>A (p.Asn655Lys)
13g.108209317T>ACA388615138LIG4c.1751A>T (p.Asn584Ile)
c.1952A>T (p.Asn651Ile)
c.1988A>T (p.Asn663Ile)
c.1964A>T (p.Asn655Ile)
13g.108209317T>CCA388615131LIG4c.1751A>G (p.Asn584Ser)
c.1952A>G (p.Asn651Ser)
c.1988A>G (p.Asn663Ser)
c.1964A>G (p.Asn655Ser)
13g.108209317T>GCA388615135LIG4c.1751A>C (p.Asn584Thr)
c.1952A>C (p.Asn651Thr)
c.1988A>C (p.Asn663Thr)
c.1964A>C (p.Asn655Thr)
13g.108209318T>ACA388615144LIG4c.1750A>T (p.Asn584Tyr)
c.1951A>T (p.Asn651Tyr)
c.1987A>T (p.Asn663Tyr)
c.1963A>T (p.Asn655Tyr)
13g.108209318T>CCA388615147LIG4c.1750A>G (p.Asn584Asp)
c.1951A>G (p.Asn651Asp)
c.1987A>G (p.Asn663Asp)
c.1963A>G (p.Asn655Asp)
13g.108209318T>GCA7043581LIG4c.1750A>C (p.Asn584His)
c.1951A>C (p.Asn651His)
c.1987A>C (p.Asn663His)
c.1963A>C (p.Asn655His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209318T=CA2117794137LIG4c.1750A= (p.Asn584=)
c.1951A= (p.Asn651=)
c.1987A= (p.Asn663=)
c.1963A= (p.Asn655=)
13g.108209319A>CCA484975321LIG4c.1749T>G (p.Thr583=)
c.1950T>G (p.Thr650=)
c.1986T>G (p.Thr662=)
c.1962T>G (p.Thr654=)
13g.108209319A>GCA484975325LIG4c.1749T>C (p.Thr583=)
c.1950T>C (p.Thr650=)
c.1986T>C (p.Thr662=)
c.1962T>C (p.Thr654=)
13g.108209319A>TCA484975326LIG4c.1749T>A (p.Thr583=)
c.1950T>A (p.Thr650=)
c.1986T>A (p.Thr662=)
c.1962T>A (p.Thr654=)
gnomAD v4
13g.108209320G>ACA7043582LIG4c.1748C>T (p.Thr583Ile)
c.1949C>T (p.Thr650Ile)
c.1985C>T (p.Thr662Ile)
c.1961C>T (p.Thr654Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209320G>CCA388615150LIG4c.1748C>G (p.Thr583Ser)
c.1949C>G (p.Thr650Ser)
c.1985C>G (p.Thr662Ser)
c.1961C>G (p.Thr654Ser)
13g.108209320G=CA2117794138LIG4c.1748C= (p.Thr583=)
c.1949C= (p.Thr650=)
c.1985C= (p.Thr662=)
c.1961C= (p.Thr654=)
13g.108209320G>TCA388615151LIG4c.1748C>A (p.Thr583Asn)
c.1949C>A (p.Thr650Asn)
c.1985C>A (p.Thr662Asn)
c.1961C>A (p.Thr654Asn)
COSMIC
13g.108209321T>ACA388615153LIG4c.1747A>T (p.Thr583Ser)
c.1948A>T (p.Thr650Ser)
c.1984A>T (p.Thr662Ser)
c.1960A>T (p.Thr654Ser)
13g.108209321T>CCA388615155LIG4c.1747A>G (p.Thr583Ala)
c.1948A>G (p.Thr650Ala)
c.1984A>G (p.Thr662Ala)
c.1960A>G (p.Thr654Ala)
13g.108209321T>GCA7043583LIG4c.1747A>C (p.Thr583Pro)
c.1948A>C (p.Thr650Pro)
c.1984A>C (p.Thr662Pro)
c.1960A>C (p.Thr654Pro)
dbSNP ExAC gnomAD v4
13g.108209321T=CA2117794139LIG4c.1747A= (p.Thr583=)
c.1948A= (p.Thr650=)
c.1984A= (p.Thr662=)
c.1960A= (p.Thr654=)
13g.108209322A>CCA484975330LIG4c.1746T>G (p.Leu582=)
c.1947T>G (p.Leu649=)
c.1983T>G (p.Leu661=)
c.1959T>G (p.Leu653=)
13g.108209322A>GCA484975331LIG4c.1746T>C (p.Leu582=)
c.1947T>C (p.Leu649=)
c.1983T>C (p.Leu661=)
c.1959T>C (p.Leu653=)
gnomAD v4
13g.108209322A>TCA484975332LIG4c.1746T>A (p.Leu582=)
c.1947T>A (p.Leu649=)
c.1983T>A (p.Leu661=)
c.1959T>A (p.Leu653=)
13g.108209323A>CCA388615158LIG4c.1745T>G (p.Leu582Arg)
c.1946T>G (p.Leu649Arg)
c.1982T>G (p.Leu661Arg)
c.1958T>G (p.Leu653Arg)
13g.108209323A>GCA388615161LIG4c.1745T>C (p.Leu582Pro)
c.1946T>C (p.Leu649Pro)
c.1982T>C (p.Leu661Pro)
c.1958T>C (p.Leu653Pro)
13g.108209323A>TCA388615162LIG4c.1745T>A (p.Leu582His)
c.1946T>A (p.Leu649His)
c.1982T>A (p.Leu661His)
c.1958T>A (p.Leu653His)
13g.108209324G>ACA388615165LIG4c.1744C>T (p.Leu582Phe)
c.1945C>T (p.Leu649Phe)
c.1981C>T (p.Leu661Phe)
c.1957C>T (p.Leu653Phe)
COSMIC
13g.108209324G>CCA388615168LIG4c.1744C>G (p.Leu582Val)
c.1945C>G (p.Leu649Val)
c.1981C>G (p.Leu661Val)
c.1957C>G (p.Leu653Val)
13g.108209324G>TCA388615171LIG4c.1744C>A (p.Leu582Ile)
c.1945C>A (p.Leu649Ile)
c.1981C>A (p.Leu661Ile)
c.1957C>A (p.Leu653Ile)
13g.108209325G>ACA484975336LIG4c.1743C>T (p.Asn581=)
c.1944C>T (p.Asn648=)
c.1980C>T (p.Asn660=)
c.1956C>T (p.Asn652=)
dbSNP gnomAD v2 gnomAD v4
13g.108209325G>CCA388615174LIG4c.1743C>G (p.Asn581Lys)
c.1944C>G (p.Asn648Lys)
c.1980C>G (p.Asn660Lys)
c.1956C>G (p.Asn652Lys)
13g.108209325G=CA2117794140LIG4c.1743C= (p.Asn581=)
c.1944C= (p.Asn648=)
c.1980C= (p.Asn660=)
c.1956C= (p.Asn652=)
13g.108209325G>TCA7043584LIG4c.1743C>A (p.Asn581Lys)
c.1944C>A (p.Asn648Lys)
c.1980C>A (p.Asn660Lys)
c.1956C>A (p.Asn652Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209326T>ACA256180322LIG4c.1742A>T (p.Asn581Ile)
c.1943A>T (p.Asn648Ile)
c.1979A>T (p.Asn660Ile)
c.1955A>T (p.Asn652Ile)
dbSNP gnomAD v4
13g.108209326T>CCA388615186LIG4c.1742A>G (p.Asn581Ser)
c.1943A>G (p.Asn648Ser)
c.1979A>G (p.Asn660Ser)
c.1955A>G (p.Asn652Ser)
13g.108209326T>GCA388615189LIG4c.1742A>C (p.Asn581Thr)
c.1943A>C (p.Asn648Thr)
c.1979A>C (p.Asn660Thr)
c.1955A>C (p.Asn652Thr)
13g.108209326T=CA2117794141LIG4c.1742A= (p.Asn581=)
c.1943A= (p.Asn648=)
c.1979A= (p.Asn660=)
c.1955A= (p.Asn652=)
13g.108209327T>ACA388615190LIG4c.1741A>T (p.Asn581Tyr)
c.1942A>T (p.Asn648Tyr)
c.1978A>T (p.Asn660Tyr)
c.1954A>T (p.Asn652Tyr)
13g.108209327T>CCA388615191LIG4c.1741A>G (p.Asn581Asp)
c.1942A>G (p.Asn648Asp)
c.1978A>G (p.Asn660Asp)
c.1954A>G (p.Asn652Asp)
gnomAD v4
13g.108209327T>GCA388615192LIG4c.1741A>C (p.Asn581His)
c.1942A>C (p.Asn648His)
c.1978A>C (p.Asn660His)
c.1954A>C (p.Asn652His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209327T=CA2117794142LIG4c.1741A= (p.Asn581=)
c.1942A= (p.Asn648=)
c.1978A= (p.Asn660=)
c.1954A= (p.Asn652=)
13g.108209328A>CCA484975341LIG4c.1740T>G (p.Pro580=)
c.1941T>G (p.Pro647=)
c.1977T>G (p.Pro659=)
c.1953T>G (p.Pro651=)
13g.108209328A>GCA484975345LIG4c.1740T>C (p.Pro580=)
c.1941T>C (p.Pro647=)
c.1977T>C (p.Pro659=)
c.1953T>C (p.Pro651=)
13g.108209328A>TCA484975347LIG4c.1740T>A (p.Pro580=)
c.1941T>A (p.Pro647=)
c.1977T>A (p.Pro659=)
c.1953T>A (p.Pro651=)
13g.108209329G>ACA256180349LIG4c.1739C>T (p.Pro580Leu)
c.1940C>T (p.Pro647Leu)
c.1976C>T (p.Pro659Leu)
c.1952C>T (p.Pro651Leu)
ClinVar dbSNP gnomAD v4
13g.108209329G>CCA388615195LIG4c.1739C>G (p.Pro580Arg)
c.1940C>G (p.Pro647Arg)
c.1976C>G (p.Pro659Arg)
c.1952C>G (p.Pro651Arg)
gnomAD v4
13g.108209329G=CA2117794143LIG4c.1739C= (p.Pro580=)
c.1940C= (p.Pro647=)
c.1976C= (p.Pro659=)
c.1952C= (p.Pro651=)
13g.108209329G>TCA388615198LIG4c.1739C>A (p.Pro580His)
c.1940C>A (p.Pro647His)
c.1976C>A (p.Pro659His)
c.1952C>A (p.Pro651His)
13g.108209330G>ACA256180357LIG4c.1738C>T (p.Pro580Ser)
c.1939C>T (p.Pro647Ser)
c.1975C>T (p.Pro659Ser)
c.1951C>T (p.Pro651Ser)
ClinVar dbSNP
13g.108209330G>CCA388615207LIG4c.1738C>G (p.Pro580Ala)
c.1939C>G (p.Pro647Ala)
c.1975C>G (p.Pro659Ala)
c.1951C>G (p.Pro651Ala)
dbSNP gnomAD v2 gnomAD v4
13g.108209330G=CA2117794144LIG4c.1738C= (p.Pro580=)
c.1939C= (p.Pro647=)
c.1975C= (p.Pro659=)
c.1951C= (p.Pro651=)
13g.108209330G>TCA388615209LIG4c.1738C>A (p.Pro580Thr)
c.1939C>A (p.Pro647Thr)
c.1975C>A (p.Pro659Thr)
c.1951C>A (p.Pro651Thr)
13g.108209331T>ACA256180388LIG4c.1737A>T (p.Ala579=)
c.1938A>T (p.Ala646=)
c.1974A>T (p.Ala658=)
c.1950A>T (p.Ala650=)
dbSNP
13g.108209331T>CCA484975355LIG4c.1737A>G (p.Ala579=)
c.1938A>G (p.Ala646=)
c.1974A>G (p.Ala658=)
c.1950A>G (p.Ala650=)
13g.108209331T>GCA484975354LIG4c.1737A>C (p.Ala579=)
c.1938A>C (p.Ala646=)
c.1974A>C (p.Ala658=)
c.1950A>C (p.Ala650=)
13g.108209331T=CA2117794145LIG4c.1737A= (p.Ala579=)
c.1938A= (p.Ala646=)
c.1974A= (p.Ala658=)
c.1950A= (p.Ala650=)
13g.108209332G>ACA388615210LIG4c.1736C>T (p.Ala579Val)
c.1937C>T (p.Ala646Val)
c.1973C>T (p.Ala658Val)
c.1949C>T (p.Ala650Val)
13g.108209332G>CCA388615214LIG4c.1736C>G (p.Ala579Gly)
c.1937C>G (p.Ala646Gly)
c.1973C>G (p.Ala658Gly)
c.1949C>G (p.Ala650Gly)
13g.108209332G>TCA388615211LIG4c.1736C>A (p.Ala579Glu)
c.1937C>A (p.Ala646Glu)
c.1973C>A (p.Ala658Glu)
c.1949C>A (p.Ala650Glu)

Number of alleles fetched