Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108209187delCA612360450LIG4c.1883del (p.Pro628GlnfsTer6)
c.2084del (p.Pro695GlnfsTer6)
c.2120del (p.Pro707GlnfsTer6)
c.2096del (p.Pro699GlnfsTer6)
 dbSNP gnomAD v2 gnomAD v4
13g.108209187G>ACA484975411LIG4c.1881C>T (p.Gly627=)
c.2082C>T (p.Gly694=)
c.2118C>T (p.Gly706=)
c.2094C>T (p.Gly698=)
 dbSNP gnomAD v2 gnomAD v4
13g.108209187G>CCA484975412LIG4c.1881C>G (p.Gly627=)
c.2082C>G (p.Gly694=)
c.2118C>G (p.Gly706=)
c.2094C>G (p.Gly698=)
13g.108209187G=CA2117794079LIG4c.1881C= (p.Gly627=)
c.2082C= (p.Gly694=)
c.2118C= (p.Gly706=)
c.2094C= (p.Gly698=)
13g.108209187G>TCA484975413LIG4c.1881C>A (p.Gly627=)
c.2082C>A (p.Gly694=)
c.2118C>A (p.Gly706=)
c.2094C>A (p.Gly698=)
13g.108209188C>ACA388614104LIG4c.1880G>T (p.Gly627Val)
c.2081G>T (p.Gly694Val)
c.2117G>T (p.Gly706Val)
c.2093G>T (p.Gly698Val)
13g.108209188C>GCA388614106LIG4c.1880G>C (p.Gly627Ala)
c.2081G>C (p.Gly694Ala)
c.2117G>C (p.Gly706Ala)
c.2093G>C (p.Gly698Ala)
13g.108209188C>TCA388614107LIG4c.1880G>A (p.Gly627Asp)
c.2081G>A (p.Gly694Asp)
c.2117G>A (p.Gly706Asp)
c.2093G>A (p.Gly698Asp)
13g.108209189C>ACA388614109LIG4c.1879G>T (p.Gly627Cys)
c.2080G>T (p.Gly694Cys)
c.2116G>T (p.Gly706Cys)
c.2092G>T (p.Gly698Cys)
13g.108209189C>GCA388614110LIG4c.1879G>C (p.Gly627Arg)
c.2080G>C (p.Gly694Arg)
c.2116G>C (p.Gly706Arg)
c.2092G>C (p.Gly698Arg)
13g.108209189C>TCA388614112LIG4c.1879G>A (p.Gly627Ser)
c.2080G>A (p.Gly694Ser)
c.2116G>A (p.Gly706Ser)
c.2092G>A (p.Gly698Ser)
13g.108209190T>ACA484975420LIG4c.1878A>T (p.Pro626=)
c.2079A>T (p.Pro693=)
c.2115A>T (p.Pro705=)
c.2091A>T (p.Pro697=)
13g.108209190T>CCA484975423LIG4c.1878A>G (p.Pro626=)
c.2079A>G (p.Pro693=)
c.2115A>G (p.Pro705=)
c.2091A>G (p.Pro697=)
13g.108209190T>GCA484975424LIG4c.1878A>C (p.Pro626=)
c.2079A>C (p.Pro693=)
c.2115A>C (p.Pro705=)
c.2091A>C (p.Pro697=)
13g.108209191G>ACA256180099LIG4c.1877C>T (p.Pro626Leu)
c.2078C>T (p.Pro693Leu)
c.2114C>T (p.Pro705Leu)
c.2090C>T (p.Pro697Leu)
 dbSNP
13g.108209191G>CCA388614116LIG4c.1877C>G (p.Pro626Arg)
c.2078C>G (p.Pro693Arg)
c.2114C>G (p.Pro705Arg)
c.2090C>G (p.Pro697Arg)
13g.108209191G=CA2117794080LIG4c.1877C= (p.Pro626=)
c.2078C= (p.Pro693=)
c.2114C= (p.Pro705=)
c.2090C= (p.Pro697=)
13g.108209191G>TCA388614114LIG4c.1877C>A (p.Pro626Gln)
c.2078C>A (p.Pro693Gln)
c.2114C>A (p.Pro705Gln)
c.2090C>A (p.Pro697Gln)
13g.108209192G>ACA388614118LIG4c.1876C>T (p.Pro626Ser)
c.2077C>T (p.Pro693Ser)
c.2113C>T (p.Pro705Ser)
c.2089C>T (p.Pro697Ser)
 dbSNP gnomAD v2 gnomAD v4
13g.108209192G>CCA388614119LIG4c.1876C>G (p.Pro626Ala)
c.2077C>G (p.Pro693Ala)
c.2113C>G (p.Pro705Ala)
c.2089C>G (p.Pro697Ala)
 gnomAD v4
13g.108209192G=CA2117794081LIG4c.1876C= (p.Pro626=)
c.2077C= (p.Pro693=)
c.2113C= (p.Pro705=)
c.2089C= (p.Pro697=)
13g.108209192G>TCA388614120LIG4c.1876C>A (p.Pro626Thr)
c.2077C>A (p.Pro693Thr)
c.2113C>A (p.Pro705Thr)
c.2089C>A (p.Pro697Thr)
13g.108209193A>CCA388614121LIG4c.1875T>G (p.Asn625Lys)
c.2076T>G (p.Asn692Lys)
c.2112T>G (p.Asn704Lys)
c.2088T>G (p.Asn696Lys)
13g.108209193A>GCA484975428LIG4c.1875T>C (p.Asn625=)
c.2076T>C (p.Asn692=)
c.2112T>C (p.Asn704=)
c.2088T>C (p.Asn696=)
13g.108209193A>TCA388614122LIG4c.1875T>A (p.Asn625Lys)
c.2076T>A (p.Asn692Lys)
c.2112T>A (p.Asn704Lys)
c.2088T>A (p.Asn696Lys)
13g.108209194T>ACA388614125LIG4c.1874A>T (p.Asn625Ile)
c.2075A>T (p.Asn692Ile)
c.2111A>T (p.Asn704Ile)
c.2087A>T (p.Asn696Ile)
13g.108209194T>CCA388614123LIG4c.1874A>G (p.Asn625Ser)
c.2075A>G (p.Asn692Ser)
c.2111A>G (p.Asn704Ser)
c.2087A>G (p.Asn696Ser)
13g.108209194T>GCA388614124LIG4c.1874A>C (p.Asn625Thr)
c.2075A>C (p.Asn692Thr)
c.2111A>C (p.Asn704Thr)
c.2087A>C (p.Asn696Thr)
13g.108209195T>ACA388614128LIG4c.1873A>T (p.Asn625Tyr)
c.2074A>T (p.Asn692Tyr)
c.2110A>T (p.Asn704Tyr)
c.2086A>T (p.Asn696Tyr)
13g.108209195T>CCA388614130LIG4c.1873A>G (p.Asn625Asp)
c.2074A>G (p.Asn692Asp)
c.2110A>G (p.Asn704Asp)
c.2086A>G (p.Asn696Asp)
13g.108209195T>GCA388614132LIG4c.1873A>C (p.Asn625His)
c.2074A>C (p.Asn692His)
c.2110A>C (p.Asn704His)
c.2086A>C (p.Asn696His)
13g.108209196T>ACA388614136LIG4c.1872A>T (p.Gln624His)
c.2073A>T (p.Gln691His)
c.2109A>T (p.Gln703His)
c.2085A>T (p.Gln695His)
13g.108209196T>CCA484975432LIG4c.1872A>G (p.Gln624=)
c.2073A>G (p.Gln691=)
c.2109A>G (p.Gln703=)
c.2085A>G (p.Gln695=)
13g.108209196T>GCA388614139LIG4c.1872A>C (p.Gln624His)
c.2073A>C (p.Gln691His)
c.2109A>C (p.Gln703His)
c.2085A>C (p.Gln695His)
13g.108209197T>ACA388614144LIG4c.1871A>T (p.Gln624Leu)
c.2072A>T (p.Gln691Leu)
c.2108A>T (p.Gln703Leu)
c.2084A>T (p.Gln695Leu)
13g.108209197T>CCA256180106LIG4c.1871A>G (p.Gln624Arg)
c.2072A>G (p.Gln691Arg)
c.2108A>G (p.Gln703Arg)
c.2084A>G (p.Gln695Arg)
 dbSNP
13g.108209197T>GCA388614142LIG4c.1871A>C (p.Gln624Pro)
c.2072A>C (p.Gln691Pro)
c.2108A>C (p.Gln703Pro)
c.2084A>C (p.Gln695Pro)
13g.108209197T=CA2117794082LIG4c.1871A= (p.Gln624=)
c.2072A= (p.Gln691=)
c.2108A= (p.Gln703=)
c.2084A= (p.Gln695=)
13g.108209198G>ACA388614145LIG4c.1870C>T (p.Gln624Ter)
c.2071C>T (p.Gln691Ter)
c.2107C>T (p.Gln703Ter)
c.2083C>T (p.Gln695Ter)
13g.108209198G>CCA388614149LIG4c.1870C>G (p.Gln624Glu)
c.2071C>G (p.Gln691Glu)
c.2107C>G (p.Gln703Glu)
c.2083C>G (p.Gln695Glu)
13g.108209198G>TCA388614147LIG4c.1870C>A (p.Gln624Lys)
c.2071C>A (p.Gln691Lys)
c.2107C>A (p.Gln703Lys)
c.2083C>A (p.Gln695Lys)
13g.108209199T>ACA484975437LIG4c.1869A>T (p.Val623=)
c.2070A>T (p.Val690=)
c.2106A>T (p.Val702=)
c.2082A>T (p.Val694=)
13g.108209199T>CCA484975438LIG4c.1869A>G (p.Val623=)
c.2070A>G (p.Val690=)
c.2106A>G (p.Val702=)
c.2082A>G (p.Val694=)
13g.108209199T>GCA484975439LIG4c.1869A>C (p.Val623=)
c.2070A>C (p.Val690=)
c.2106A>C (p.Val702=)
c.2082A>C (p.Val694=)
13g.108209200A>CCA388614150LIG4c.1868T>G (p.Val623Gly)
c.2069T>G (p.Val690Gly)
c.2105T>G (p.Val702Gly)
c.2081T>G (p.Val694Gly)
13g.108209200A>GCA388614154LIG4c.1868T>C (p.Val623Ala)
c.2069T>C (p.Val690Ala)
c.2105T>C (p.Val702Ala)
c.2081T>C (p.Val694Ala)
13g.108209200A>TCA388614152LIG4c.1868T>A (p.Val623Glu)
c.2069T>A (p.Val690Glu)
c.2105T>A (p.Val702Glu)
c.2081T>A (p.Val694Glu)
13g.108209201C>ACA388614155LIG4c.1867G>T (p.Val623Leu)
c.2068G>T (p.Val690Leu)
c.2104G>T (p.Val702Leu)
c.2080G>T (p.Val694Leu)
 gnomAD v4
13g.108209201C=CA2117794083LIG4c.1867G= (p.Val623=)
c.2068G= (p.Val690=)
c.2104G= (p.Val702=)
c.2080G= (p.Val694=)
13g.108209201C>GCA388614159LIG4c.1867G>C (p.Val623Leu)
c.2068G>C (p.Val690Leu)
c.2104G>C (p.Val702Leu)
c.2080G>C (p.Val694Leu)
13g.108209201C>TCA388614157LIG4c.1867G>A (p.Val623Ile)
c.2068G>A (p.Val690Ile)
c.2104G>A (p.Val702Ile)
c.2080G>A (p.Val694Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209202T>ACA484975441LIG4c.1866A>T (p.Ile622=)
c.2067A>T (p.Ile689=)
c.2103A>T (p.Ile701=)
c.2079A>T (p.Ile693=)
 ClinVar
13g.108209202T>CCA256180112LIG4c.1866A>G (p.Ile622Met)
c.2067A>G (p.Ile689Met)
c.2103A>G (p.Ile701Met)
c.2079A>G (p.Ile693Met)
 dbSNP
13g.108209202T>GCA484975443LIG4c.1866A>C (p.Ile622=)
c.2067A>C (p.Ile689=)
c.2103A>C (p.Ile701=)
c.2079A>C (p.Ile693=)
13g.108209202T=CA2117794084LIG4c.1866A= (p.Ile622=)
c.2067A= (p.Ile689=)
c.2103A= (p.Ile701=)
c.2079A= (p.Ile693=)
13g.108209203A=CA2117794085LIG4c.1865T= (p.Ile622=)
c.2066T= (p.Ile689=)
c.2102T= (p.Ile701=)
c.2078T= (p.Ile693=)
13g.108209203A>CCA388614161LIG4c.1865T>G (p.Ile622Arg)
c.2066T>G (p.Ile689Arg)
c.2102T>G (p.Ile701Arg)
c.2078T>G (p.Ile693Arg)
13g.108209203A>GCA7043562LIG4c.1865T>C (p.Ile622Thr)
c.2066T>C (p.Ile689Thr)
c.2102T>C (p.Ile701Thr)
c.2078T>C (p.Ile693Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209203A>TCA388614164LIG4c.1865T>A (p.Ile622Lys)
c.2066T>A (p.Ile689Lys)
c.2102T>A (p.Ile701Lys)
c.2078T>A (p.Ile693Lys)
13g.108209204T>ACA388614167LIG4c.1864A>T (p.Ile622Leu)
c.2065A>T (p.Ile689Leu)
c.2101A>T (p.Ile701Leu)
c.2077A>T (p.Ile693Leu)
13g.108209204T>CCA388614171LIG4c.1864A>G (p.Ile622Val)
c.2065A>G (p.Ile689Val)
c.2101A>G (p.Ile701Val)
c.2077A>G (p.Ile693Val)
 dbSNP gnomAD v4
13g.108209204T>GCA388614174LIG4c.1864A>C (p.Ile622Leu)
c.2065A>C (p.Ile689Leu)
c.2101A>C (p.Ile701Leu)
c.2077A>C (p.Ile693Leu)
13g.108209204T=CA2117794086LIG4c.1864A= (p.Ile622=)
c.2065A= (p.Ile689=)
c.2101A= (p.Ile701=)
c.2077A= (p.Ile693=)
13g.108209205A=CA2117794087LIG4c.1863T= (p.Tyr621=)
c.2064T= (p.Tyr688=)
c.2100T= (p.Tyr700=)
c.2076T= (p.Tyr692=)
13g.108209205A>CCA388614176LIG4c.1863T>G (p.Tyr621Ter)
c.2064T>G (p.Tyr688Ter)
c.2100T>G (p.Tyr700Ter)
c.2076T>G (p.Tyr692Ter)
13g.108209205A>GCA484975452LIG4c.1863T>C (p.Tyr621=)
c.2064T>C (p.Tyr688=)
c.2100T>C (p.Tyr700=)
c.2076T>C (p.Tyr692=)
 dbSNP
13g.108209205A>TCA388614179LIG4c.1863T>A (p.Tyr621Ter)
c.2064T>A (p.Tyr688Ter)
c.2100T>A (p.Tyr700Ter)
c.2076T>A (p.Tyr692Ter)
13g.108209206T>ACA388614183LIG4c.1862A>T (p.Tyr621Phe)
c.2063A>T (p.Tyr688Phe)
c.2099A>T (p.Tyr700Phe)
c.2075A>T (p.Tyr692Phe)
13g.108209206T>CCA388614185LIG4c.1862A>G (p.Tyr621Cys)
c.2063A>G (p.Tyr688Cys)
c.2099A>G (p.Tyr700Cys)
c.2075A>G (p.Tyr692Cys)
 gnomAD v4
13g.108209206T>GCA388614186LIG4c.1862A>C (p.Tyr621Ser)
c.2063A>C (p.Tyr688Ser)
c.2099A>C (p.Tyr700Ser)
c.2075A>C (p.Tyr692Ser)
13g.108209207A=CA2117794088LIG4c.1861T= (p.Tyr621=)
c.2062T= (p.Tyr688=)
c.2098T= (p.Tyr700=)
c.2074T= (p.Tyr692=)
13g.108209207A>CCA388614189LIG4c.1861T>G (p.Tyr621Asp)
c.2062T>G (p.Tyr688Asp)
c.2098T>G (p.Tyr700Asp)
c.2074T>G (p.Tyr692Asp)
13g.108209207A>GCA388614194LIG4c.1861T>C (p.Tyr621His)
c.2062T>C (p.Tyr688His)
c.2098T>C (p.Tyr700His)
c.2074T>C (p.Tyr692His)
 dbSNP gnomAD v3 gnomAD v4
13g.108209207A>TCA388614192LIG4c.1861T>A (p.Tyr621Asn)
c.2062T>A (p.Tyr688Asn)
c.2098T>A (p.Tyr700Asn)
c.2074T>A (p.Tyr692Asn)
13g.108209208A>CCA484975458LIG4c.1860T>G (p.Gly620=)
c.2061T>G (p.Gly687=)
c.2097T>G (p.Gly699=)
c.2073T>G (p.Gly691=)
 COSMIC
13g.108209208A>GCA484975459LIG4c.1860T>C (p.Gly620=)
c.2061T>C (p.Gly687=)
c.2097T>C (p.Gly699=)
c.2073T>C (p.Gly691=)
13g.108209208A>TCA484975461LIG4c.1860T>A (p.Gly620=)
c.2061T>A (p.Gly687=)
c.2097T>A (p.Gly699=)
c.2073T>A (p.Gly691=)
13g.108209209C>ACA388614196LIG4c.1859G>T (p.Gly620Val)
c.2060G>T (p.Gly687Val)
c.2096G>T (p.Gly699Val)
c.2072G>T (p.Gly691Val)
 gnomAD v4
13g.108209209C=CA2117794089LIG4c.1859G= (p.Gly620=)
c.2060G= (p.Gly687=)
c.2096G= (p.Gly699=)
c.2072G= (p.Gly691=)
13g.108209209C>GCA388614198LIG4c.1859G>C (p.Gly620Ala)
c.2060G>C (p.Gly687Ala)
c.2096G>C (p.Gly699Ala)
c.2072G>C (p.Gly691Ala)
 dbSNP
13g.108209209C>TCA388614201LIG4c.1859G>A (p.Gly620Asp)
c.2060G>A (p.Gly687Asp)
c.2096G>A (p.Gly699Asp)
c.2072G>A (p.Gly691Asp)
13g.108209210C>ACA388614205LIG4c.1858G>T (p.Gly620Cys)
c.2059G>T (p.Gly687Cys)
c.2095G>T (p.Gly699Cys)
c.2071G>T (p.Gly691Cys)
 dbSNP COSMIC
13g.108209210C=CA2117794090LIG4c.1858G= (p.Gly620=)
c.2059G= (p.Gly687=)
c.2095G= (p.Gly699=)
c.2071G= (p.Gly691=)
13g.108209210C>GCA388614208LIG4c.1858G>C (p.Gly620Arg)
c.2059G>C (p.Gly687Arg)
c.2095G>C (p.Gly699Arg)
c.2071G>C (p.Gly691Arg)
13g.108209210C>TCA388614210LIG4c.1858G>A (p.Gly620Ser)
c.2059G>A (p.Gly687Ser)
c.2095G>A (p.Gly699Ser)
c.2071G>A (p.Gly691Ser)
 ClinVar gnomAD v4
13g.108209211A>CCA484975462LIG4c.1857T>G (p.Gly619=)
c.2058T>G (p.Gly686=)
c.2094T>G (p.Gly698=)
c.2070T>G (p.Gly690=)
13g.108209211A>GCA484975463LIG4c.1857T>C (p.Gly619=)
c.2058T>C (p.Gly686=)
c.2094T>C (p.Gly698=)
c.2070T>C (p.Gly690=)
13g.108209211A>TCA484975464LIG4c.1857T>A (p.Gly619=)
c.2058T>A (p.Gly686=)
c.2094T>A (p.Gly698=)
c.2070T>A (p.Gly690=)
13g.108209212C>ACA388614211LIG4c.1856G>T (p.Gly619Val)
c.2057G>T (p.Gly686Val)
c.2093G>T (p.Gly698Val)
c.2069G>T (p.Gly690Val)
13g.108209212C>GCA388614213LIG4c.1856G>C (p.Gly619Ala)
c.2057G>C (p.Gly686Ala)
c.2093G>C (p.Gly698Ala)
c.2069G>C (p.Gly690Ala)
13g.108209212C>TCA388614216LIG4c.1856G>A (p.Gly619Asp)
c.2057G>A (p.Gly686Asp)
c.2093G>A (p.Gly698Asp)
c.2069G>A (p.Gly690Asp)
13g.108209213C>ACA388614218LIG4c.1855G>T (p.Gly619Cys)
c.2056G>T (p.Gly686Cys)
c.2092G>T (p.Gly698Cys)
c.2068G>T (p.Gly690Cys)
13g.108209213C=CA2117794091LIG4c.1855G= (p.Gly619=)
c.2056G= (p.Gly686=)
c.2092G= (p.Gly698=)
c.2068G= (p.Gly690=)
13g.108209213C>GCA388614219LIG4c.1855G>C (p.Gly619Arg)
c.2056G>C (p.Gly686Arg)
c.2092G>C (p.Gly698Arg)
c.2068G>C (p.Gly690Arg)
13g.108209213C>TCA388614217LIG4c.1855G>A (p.Gly619Ser)
c.2056G>A (p.Gly686Ser)
c.2092G>A (p.Gly698Ser)
c.2068G>A (p.Gly690Ser)
 dbSNP gnomAD v2 gnomAD v4
13g.108209214A>CCA388614222LIG4c.1854T>G (p.Phe618Leu)
c.2055T>G (p.Phe685Leu)
c.2091T>G (p.Phe697Leu)
c.2067T>G (p.Phe689Leu)
13g.108209214A>GCA484975472LIG4c.1854T>C (p.Phe618=)
c.2055T>C (p.Phe685=)
c.2091T>C (p.Phe697=)
c.2067T>C (p.Phe689=)
13g.108209214A>TCA388614225LIG4c.1854T>A (p.Phe618Leu)
c.2055T>A (p.Phe685Leu)
c.2091T>A (p.Phe697Leu)
c.2067T>A (p.Phe689Leu)
13g.108209215A>CCA388614227LIG4c.1853T>G (p.Phe618Cys)
c.2054T>G (p.Phe685Cys)
c.2090T>G (p.Phe697Cys)
c.2066T>G (p.Phe689Cys)
13g.108209215A>GCA388614228LIG4c.1853T>C (p.Phe618Ser)
c.2054T>C (p.Phe685Ser)
c.2090T>C (p.Phe697Ser)
c.2066T>C (p.Phe689Ser)
13g.108209215A>TCA388614230LIG4c.1853T>A (p.Phe618Tyr)
c.2054T>A (p.Phe685Tyr)
c.2090T>A (p.Phe697Tyr)
c.2066T>A (p.Phe689Tyr)
13g.108209216A>CCA388614232LIG4c.1852T>G (p.Phe618Val)
c.2053T>G (p.Phe685Val)
c.2089T>G (p.Phe697Val)
c.2065T>G (p.Phe689Val)
13g.108209216A>GCA388614235LIG4c.1852T>C (p.Phe618Leu)
c.2053T>C (p.Phe685Leu)
c.2089T>C (p.Phe697Leu)
c.2065T>C (p.Phe689Leu)
13g.108209216A>TCA388614237LIG4c.1852T>A (p.Phe618Ile)
c.2053T>A (p.Phe685Ile)
c.2089T>A (p.Phe697Ile)
c.2065T>A (p.Phe689Ile)
13g.108209217T>ACA388614239LIG4c.1851A>T (p.Glu617Asp)
c.2052A>T (p.Glu684Asp)
c.2088A>T (p.Glu696Asp)
c.2064A>T (p.Glu688Asp)
13g.108209217T>CCA484975479LIG4c.1851A>G (p.Glu617=)
c.2052A>G (p.Glu684=)
c.2088A>G (p.Glu696=)
c.2064A>G (p.Glu688=)
13g.108209217T>GCA388614241LIG4c.1851A>C (p.Glu617Asp)
c.2052A>C (p.Glu684Asp)
c.2088A>C (p.Glu696Asp)
c.2064A>C (p.Glu688Asp)
13g.108209218T>ACA388614244LIG4c.1850A>T (p.Glu617Val)
c.2051A>T (p.Glu684Val)
c.2087A>T (p.Glu696Val)
c.2063A>T (p.Glu688Val)
13g.108209218T>CCA388614246LIG4c.1850A>G (p.Glu617Gly)
c.2051A>G (p.Glu684Gly)
c.2087A>G (p.Glu696Gly)
c.2063A>G (p.Glu688Gly)
13g.108209218T>GCA388614249LIG4c.1850A>C (p.Glu617Ala)
c.2051A>C (p.Glu684Ala)
c.2087A>C (p.Glu696Ala)
c.2063A>C (p.Glu688Ala)
 gnomAD v4
13g.108209219C>ACA388614259LIG4c.1849G>T (p.Glu617Ter)
c.2050G>T (p.Glu684Ter)
c.2086G>T (p.Glu696Ter)
c.2062G>T (p.Glu688Ter)
13g.108209219C=CA2117794092LIG4c.1849G= (p.Glu617=)
c.2050G= (p.Glu684=)
c.2086G= (p.Glu696=)
c.2062G= (p.Glu688=)
13g.108209219C>GCA388614253LIG4c.1849G>C (p.Glu617Gln)
c.2050G>C (p.Glu684Gln)
c.2086G>C (p.Glu696Gln)
c.2062G>C (p.Glu688Gln)
 dbSNP
13g.108209219C>TCA7043563LIG4c.1849G>A (p.Glu617Lys)
c.2050G>A (p.Glu684Lys)
c.2086G>A (p.Glu696Lys)
c.2062G>A (p.Glu688Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209220T>ACA484975092LIG4c.1848A>T (p.Ala616=)
c.2049A>T (p.Ala683=)
c.2085A>T (p.Ala695=)
c.2061A>T (p.Ala687=)
13g.108209220T>CCA484975097LIG4c.1848A>G (p.Ala616=)
c.2049A>G (p.Ala683=)
c.2085A>G (p.Ala695=)
c.2061A>G (p.Ala687=)
13g.108209220T>GCA484975095LIG4c.1848A>C (p.Ala616=)
c.2049A>C (p.Ala683=)
c.2085A>C (p.Ala695=)
c.2061A>C (p.Ala687=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108209220T=CA2117794093LIG4c.1848A= (p.Ala616=)
c.2049A= (p.Ala683=)
c.2085A= (p.Ala695=)
c.2061A= (p.Ala687=)
13g.108209221G>ACA388614261LIG4c.1847C>T (p.Ala616Val)
c.2048C>T (p.Ala683Val)
c.2084C>T (p.Ala695Val)
c.2060C>T (p.Ala687Val)
 dbSNP gnomAD v3 gnomAD v4
13g.108209221G>CCA388614262LIG4c.1847C>G (p.Ala616Gly)
c.2048C>G (p.Ala683Gly)
c.2084C>G (p.Ala695Gly)
c.2060C>G (p.Ala687Gly)
 dbSNP
13g.108209221G=CA2117794094LIG4c.1847C= (p.Ala616=)
c.2048C= (p.Ala683=)
c.2084C= (p.Ala695=)
c.2060C= (p.Ala687=)
13g.108209221G>TCA388614263LIG4c.1847C>A (p.Ala616Glu)
c.2048C>A (p.Ala683Glu)
c.2084C>A (p.Ala695Glu)
c.2060C>A (p.Ala687Glu)
13g.108209222C>ACA388614266LIG4c.1846G>T (p.Ala616Ser)
c.2047G>T (p.Ala683Ser)
c.2083G>T (p.Ala695Ser)
c.2059G>T (p.Ala687Ser)
13g.108209222C>GCA388614269LIG4c.1846G>C (p.Ala616Pro)
c.2047G>C (p.Ala683Pro)
c.2083G>C (p.Ala695Pro)
c.2059G>C (p.Ala687Pro)
13g.108209222C>TCA388614271LIG4c.1846G>A (p.Ala616Thr)
c.2047G>A (p.Ala683Thr)
c.2083G>A (p.Ala695Thr)
c.2059G>A (p.Ala687Thr)
13g.108209223A>CCA388614274LIG4c.1845T>G (p.Ile615Met)
c.2046T>G (p.Ile682Met)
c.2082T>G (p.Ile694Met)
c.2058T>G (p.Ile686Met)
 ClinVar dbSNP
13g.108209223A>GCA484975099LIG4c.1845T>C (p.Ile615=)
c.2046T>C (p.Ile682=)
c.2082T>C (p.Ile694=)
c.2058T>C (p.Ile686=)
13g.108209223A>TCA484975100LIG4c.1845T>A (p.Ile615=)
c.2046T>A (p.Ile682=)
c.2082T>A (p.Ile694=)
c.2058T>A (p.Ile686=)
13g.108209224A=CA2117794095LIG4c.1844T= (p.Ile615=)
c.2045T= (p.Ile682=)
c.2081T= (p.Ile694=)
c.2057T= (p.Ile686=)
13g.108209224A>CCA388614277LIG4c.1844T>G (p.Ile615Ser)
c.2045T>G (p.Ile682Ser)
c.2081T>G (p.Ile694Ser)
c.2057T>G (p.Ile686Ser)
13g.108209224A>GCA7043564LIG4c.1844T>C (p.Ile615Thr)
c.2045T>C (p.Ile682Thr)
c.2081T>C (p.Ile694Thr)
c.2057T>C (p.Ile686Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209224A>TCA388614278LIG4c.1844T>A (p.Ile615Asn)
c.2045T>A (p.Ile682Asn)
c.2081T>A (p.Ile694Asn)
c.2057T>A (p.Ile686Asn)
13g.108209225T>ACA388614279LIG4c.1843A>T (p.Ile615Phe)
c.2044A>T (p.Ile682Phe)
c.2080A>T (p.Ile694Phe)
c.2056A>T (p.Ile686Phe)
13g.108209225T>CCA388614283LIG4c.1843A>G (p.Ile615Val)
c.2044A>G (p.Ile682Val)
c.2080A>G (p.Ile694Val)
c.2056A>G (p.Ile686Val)
13g.108209225T>GCA7043565LIG4c.1843A>C (p.Ile615Leu)
c.2044A>C (p.Ile682Leu)
c.2080A>C (p.Ile694Leu)
c.2056A>C (p.Ile686Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209225T=CA2117794096LIG4c.1843A= (p.Ile615=)
c.2044A= (p.Ile682=)
c.2080A= (p.Ile694=)
c.2056A= (p.Ile686=)
13g.108209226T>ACA388614287LIG4c.1842A>T (p.Arg614Ser)
c.2043A>T (p.Arg681Ser)
c.2079A>T (p.Arg693Ser)
c.2055A>T (p.Arg685Ser)
13g.108209226T>CCA484975103LIG4c.1842A>G (p.Arg614=)
c.2043A>G (p.Arg681=)
c.2079A>G (p.Arg693=)
c.2055A>G (p.Arg685=)
13g.108209226T>GCA388614290LIG4c.1842A>C (p.Arg614Ser)
c.2043A>C (p.Arg681Ser)
c.2079A>C (p.Arg693Ser)
c.2055A>C (p.Arg685Ser)
13g.108209227C>ACA388614293LIG4c.1841G>T (p.Arg614Ile)
c.2042G>T (p.Arg681Ile)
c.2078G>T (p.Arg693Ile)
c.2054G>T (p.Arg685Ile)
 COSMIC
13g.108209227C=CA2117794097LIG4c.1841G= (p.Arg614=)
c.2042G= (p.Arg681=)
c.2078G= (p.Arg693=)
c.2054G= (p.Arg685=)
13g.108209227C>GCA388614299LIG4c.1841G>C (p.Arg614Thr)
c.2042G>C (p.Arg681Thr)
c.2078G>C (p.Arg693Thr)
c.2054G>C (p.Arg685Thr)
13g.108209227C>TCA7043566LIG4c.1841G>A (p.Arg614Lys)
c.2042G>A (p.Arg681Lys)
c.2078G>A (p.Arg693Lys)
c.2054G>A (p.Arg685Lys)
 ClinVar dbSNP ExAC gnomAD v2
13g.108209228T>ACA7043567LIG4c.1840A>T (p.Arg614Ter)
c.2041A>T (p.Arg681Ter)
c.2077A>T (p.Arg693Ter)
c.2053A>T (p.Arg685Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209228T>CCA388614302LIG4c.1840A>G (p.Arg614Gly)
c.2041A>G (p.Arg681Gly)
c.2077A>G (p.Arg693Gly)
c.2053A>G (p.Arg685Gly)
 dbSNP
13g.108209228T>GCA484975106LIG4c.1840A>C (p.Arg614=)
c.2041A>C (p.Arg681=)
c.2077A>C (p.Arg693=)
c.2053A>C (p.Arg685=)
 gnomAD v4
13g.108209228T=CA2117794098LIG4c.1840A= (p.Arg614=)
c.2041A= (p.Arg681=)
c.2077A= (p.Arg693=)
c.2053A= (p.Arg685=)
13g.108209229G>ACA484975108LIG4c.1839C>T (p.Asn613=)
c.2040C>T (p.Asn680=)
c.2076C>T (p.Asn692=)
c.2052C>T (p.Asn684=)
 ClinVar gnomAD v4
13g.108209229G>CCA388614303LIG4c.1839C>G (p.Asn613Lys)
c.2040C>G (p.Asn680Lys)
c.2076C>G (p.Asn692Lys)
c.2052C>G (p.Asn684Lys)
13g.108209229G>TCA388614305LIG4c.1839C>A (p.Asn613Lys)
c.2040C>A (p.Asn680Lys)
c.2076C>A (p.Asn692Lys)
c.2052C>A (p.Asn684Lys)
13g.108209230T>ACA388614310LIG4c.1838A>T (p.Asn613Ile)
c.2039A>T (p.Asn680Ile)
c.2075A>T (p.Asn692Ile)
c.2051A>T (p.Asn684Ile)
13g.108209230T>CCA256180176LIG4c.1838A>G (p.Asn613Ser)
c.2039A>G (p.Asn680Ser)
c.2075A>G (p.Asn692Ser)
c.2051A>G (p.Asn684Ser)
 dbSNP
13g.108209230T>GCA388614313LIG4c.1838A>C (p.Asn613Thr)
c.2039A>C (p.Asn680Thr)
c.2075A>C (p.Asn692Thr)
c.2051A>C (p.Asn684Thr)
 dbSNP
13g.108209230T=CA2117794099LIG4c.1838A= (p.Asn613=)
c.2039A= (p.Asn680=)
c.2075A= (p.Asn692=)
c.2051A= (p.Asn684=)
13g.108209231T>ACA388614315LIG4c.1837A>T (p.Asn613Tyr)
c.2038A>T (p.Asn680Tyr)
c.2074A>T (p.Asn692Tyr)
c.2050A>T (p.Asn684Tyr)
13g.108209231T>CCA388614318LIG4c.1837A>G (p.Asn613Asp)
c.2038A>G (p.Asn680Asp)
c.2074A>G (p.Asn692Asp)
c.2050A>G (p.Asn684Asp)
 ClinVar dbSNP gnomAD v4
13g.108209231T>GCA388614327LIG4c.1837A>C (p.Asn613His)
c.2038A>C (p.Asn680His)
c.2074A>C (p.Asn692His)
c.2050A>C (p.Asn684His)
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=)

Number of alleles fetched