Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108209056_108209057delinsATCA2580087251LIG4c.2011_2012delinsAT (p.Trp671Met)
c.2212_2213delinsAT (p.Trp738Met)
c.2248_2249delinsAT (p.Trp750Met)
c.2224_2225delinsAT (p.Trp742Met)
 ClinVar
13g.108209057A=CA2117794029LIG4c.2011T= (p.Trp671=)
c.2212T= (p.Trp738=)
c.2248T= (p.Trp750=)
c.2224T= (p.Trp742=)
13g.108209057A>CCA388613774LIG4c.2011T>G (p.Trp671Gly)
c.2212T>G (p.Trp738Gly)
c.2248T>G (p.Trp750Gly)
c.2224T>G (p.Trp742Gly)
 ClinVar dbSNP
13g.108209057A>GCA388613775LIG4c.2011T>C (p.Trp671Arg)
c.2212T>C (p.Trp738Arg)
c.2248T>C (p.Trp750Arg)
c.2224T>C (p.Trp742Arg)
13g.108209057A>TCA388613776LIG4c.2011T>A (p.Trp671Arg)
c.2212T>A (p.Trp738Arg)
c.2248T>A (p.Trp750Arg)
c.2224T>A (p.Trp742Arg)
13g.108209058T>ACA484975044LIG4c.2010A>T (p.Pro670=)
c.2211A>T (p.Pro737=)
c.2247A>T (p.Pro749=)
c.2223A>T (p.Pro741=)
13g.108209058T>CCA256179917LIG4c.2010A>G (p.Pro670=)
c.2211A>G (p.Pro737=)
c.2247A>G (p.Pro749=)
c.2223A>G (p.Pro741=)
 dbSNP gnomAD v3 gnomAD v4
13g.108209058T>GCA484975046LIG4c.2010A>C (p.Pro670=)
c.2211A>C (p.Pro737=)
c.2247A>C (p.Pro749=)
c.2223A>C (p.Pro741=)
 gnomAD v4
13g.108209058T=CA2117794030LIG4c.2010A= (p.Pro670=)
c.2211A= (p.Pro737=)
c.2247A= (p.Pro749=)
c.2223A= (p.Pro741=)
13g.108209059G>ACA256179928LIG4c.2009C>T (p.Pro670Leu)
c.2210C>T (p.Pro737Leu)
c.2246C>T (p.Pro749Leu)
c.2222C>T (p.Pro741Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209059G>CCA388613777LIG4c.2009C>G (p.Pro670Arg)
c.2210C>G (p.Pro737Arg)
c.2246C>G (p.Pro749Arg)
c.2222C>G (p.Pro741Arg)
13g.108209059G=CA2117794031LIG4c.2009C= (p.Pro670=)
c.2210C= (p.Pro737=)
c.2246C= (p.Pro749=)
c.2222C= (p.Pro741=)
13g.108209059G>TCA388613778LIG4c.2009C>A (p.Pro670Gln)
c.2210C>A (p.Pro737Gln)
c.2246C>A (p.Pro749Gln)
c.2222C>A (p.Pro741Gln)
13g.108209060G>ACA388613779LIG4c.2008C>T (p.Pro670Ser)
c.2209C>T (p.Pro737Ser)
c.2245C>T (p.Pro749Ser)
c.2221C>T (p.Pro741Ser)
 gnomAD v4
13g.108209060G>CCA388613780LIG4c.2008C>G (p.Pro670Ala)
c.2209C>G (p.Pro737Ala)
c.2245C>G (p.Pro749Ala)
c.2221C>G (p.Pro741Ala)
13g.108209060G>TCA388613781LIG4c.2008C>A (p.Pro670Thr)
c.2209C>A (p.Pro737Thr)
c.2245C>A (p.Pro749Thr)
c.2221C>A (p.Pro741Thr)
13g.108209061T>ACA484975050LIG4c.2007A>T (p.Val669=)
c.2208A>T (p.Val736=)
c.2244A>T (p.Val748=)
c.2220A>T (p.Val740=)
13g.108209061T>CCA484975052LIG4c.2007A>G (p.Val669=)
c.2208A>G (p.Val736=)
c.2244A>G (p.Val748=)
c.2220A>G (p.Val740=)
 dbSNP gnomAD v3 gnomAD v4
13g.108209061T>GCA484975054LIG4c.2007A>C (p.Val669=)
c.2208A>C (p.Val736=)
c.2244A>C (p.Val748=)
c.2220A>C (p.Val740=)
13g.108209061T=CA2117794032LIG4c.2007A= (p.Val669=)
c.2208A= (p.Val736=)
c.2244A= (p.Val748=)
c.2220A= (p.Val740=)
13g.108209062A>CCA388613782LIG4c.2006T>G (p.Val669Gly)
c.2207T>G (p.Val736Gly)
c.2243T>G (p.Val748Gly)
c.2219T>G (p.Val740Gly)
13g.108209062A>GCA388613783LIG4c.2006T>C (p.Val669Ala)
c.2207T>C (p.Val736Ala)
c.2243T>C (p.Val748Ala)
c.2219T>C (p.Val740Ala)
13g.108209062A>TCA388613784LIG4c.2006T>A (p.Val669Glu)
c.2207T>A (p.Val736Glu)
c.2243T>A (p.Val748Glu)
c.2219T>A (p.Val740Glu)
 gnomAD v4
13g.108209063C>ACA388613785LIG4c.2005G>T (p.Val669Leu)
c.2206G>T (p.Val736Leu)
c.2242G>T (p.Val748Leu)
c.2218G>T (p.Val740Leu)
13g.108209063C>GCA388613786LIG4c.2005G>C (p.Val669Leu)
c.2206G>C (p.Val736Leu)
c.2242G>C (p.Val748Leu)
c.2218G>C (p.Val740Leu)
13g.108209063C>TCA388613787LIG4c.2005G>A (p.Val669Ile)
c.2206G>A (p.Val736Ile)
c.2242G>A (p.Val748Ile)
c.2218G>A (p.Val740Ile)
13g.108209064A>CCA388613788LIG4c.2004T>G (p.Phe668Leu)
c.2205T>G (p.Phe735Leu)
c.2241T>G (p.Phe747Leu)
c.2217T>G (p.Phe739Leu)
13g.108209064A>GCA484975059LIG4c.2004T>C (p.Phe668=)
c.2205T>C (p.Phe735=)
c.2241T>C (p.Phe747=)
c.2217T>C (p.Phe739=)
13g.108209064A>TCA388613789LIG4c.2004T>A (p.Phe668Leu)
c.2205T>A (p.Phe735Leu)
c.2241T>A (p.Phe747Leu)
c.2217T>A (p.Phe739Leu)
13g.108209065A>CCA388613791LIG4c.2003T>G (p.Phe668Cys)
c.2204T>G (p.Phe735Cys)
c.2240T>G (p.Phe747Cys)
c.2216T>G (p.Phe739Cys)
13g.108209065A>GCA388613792LIG4c.2003T>C (p.Phe668Ser)
c.2204T>C (p.Phe735Ser)
c.2240T>C (p.Phe747Ser)
c.2216T>C (p.Phe739Ser)
13g.108209065A>TCA388613790LIG4c.2003T>A (p.Phe668Tyr)
c.2204T>A (p.Phe735Tyr)
c.2240T>A (p.Phe747Tyr)
c.2216T>A (p.Phe739Tyr)
13g.108209066A=CA2117794033LIG4c.2002T= (p.Phe668=)
c.2203T= (p.Phe735=)
c.2239T= (p.Phe747=)
c.2215T= (p.Phe739=)
13g.108209066A>CCA388613795LIG4c.2002T>G (p.Phe668Val)
c.2203T>G (p.Phe735Val)
c.2239T>G (p.Phe747Val)
c.2215T>G (p.Phe739Val)
 dbSNP
13g.108209066A>GCA388613793LIG4c.2002T>C (p.Phe668Leu)
c.2203T>C (p.Phe735Leu)
c.2239T>C (p.Phe747Leu)
c.2215T>C (p.Phe739Leu)
 gnomAD v4
13g.108209066A>TCA388613794LIG4c.2002T>A (p.Phe668Ile)
c.2203T>A (p.Phe735Ile)
c.2239T>A (p.Phe747Ile)
c.2215T>A (p.Phe739Ile)
13g.108209067G>ACA7043545LIG4c.2001C>T (p.Ser667=)
c.2202C>T (p.Ser734=)
c.2238C>T (p.Ser746=)
c.2214C>T (p.Ser738=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209067G>CCA388613796LIG4c.2001C>G (p.Ser667Arg)
c.2202C>G (p.Ser734Arg)
c.2238C>G (p.Ser746Arg)
c.2214C>G (p.Ser738Arg)
13g.108209067G=CA2117794034LIG4c.2001C= (p.Ser667=)
c.2202C= (p.Ser734=)
c.2238C= (p.Ser746=)
c.2214C= (p.Ser738=)
13g.108209067G>TCA388613797LIG4c.2001C>A (p.Ser667Arg)
c.2202C>A (p.Ser734Arg)
c.2238C>A (p.Ser746Arg)
c.2214C>A (p.Ser738Arg)
 COSMIC
13g.108209068C>ACA388613798LIG4c.2000G>T (p.Ser667Ile)
c.2201G>T (p.Ser734Ile)
c.2237G>T (p.Ser746Ile)
c.2213G>T (p.Ser738Ile)
13g.108209068C=CA2117794035LIG4c.2000G= (p.Ser667=)
c.2201G= (p.Ser734=)
c.2237G= (p.Ser746=)
c.2213G= (p.Ser738=)
13g.108209068C>GCA388613799LIG4c.2000G>C (p.Ser667Thr)
c.2201G>C (p.Ser734Thr)
c.2237G>C (p.Ser746Thr)
c.2213G>C (p.Ser738Thr)
13g.108209068C>TCA7043546LIG4c.2000G>A (p.Ser667Asn)
c.2201G>A (p.Ser734Asn)
c.2237G>A (p.Ser746Asn)
c.2213G>A (p.Ser738Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108209069T>ACA388613800LIG4c.1999A>T (p.Ser667Cys)
c.2200A>T (p.Ser734Cys)
c.2236A>T (p.Ser746Cys)
c.2212A>T (p.Ser738Cys)
13g.108209069T>CCA388613801LIG4c.1999A>G (p.Ser667Gly)
c.2200A>G (p.Ser734Gly)
c.2236A>G (p.Ser746Gly)
c.2212A>G (p.Ser738Gly)
13g.108209069T>GCA388613802LIG4c.1999A>C (p.Ser667Arg)
c.2200A>C (p.Ser734Arg)
c.2236A>C (p.Ser746Arg)
c.2212A>C (p.Ser738Arg)
 gnomAD v4
13g.108209070T>ACA388613803LIG4c.1998A>T (p.Lys666Asn)
c.2199A>T (p.Lys733Asn)
c.2235A>T (p.Lys745Asn)
c.2211A>T (p.Lys737Asn)
13g.108209070T>CCA484975066LIG4c.1998A>G (p.Lys666=)
c.2199A>G (p.Lys733=)
c.2235A>G (p.Lys745=)
c.2211A>G (p.Lys737=)
13g.108209070T>GCA388613804LIG4c.1998A>C (p.Lys666Asn)
c.2199A>C (p.Lys733Asn)
c.2235A>C (p.Lys745Asn)
c.2211A>C (p.Lys737Asn)
13g.108209071T>ACA388613805LIG4c.1997A>T (p.Lys666Ile)
c.2198A>T (p.Lys733Ile)
c.2234A>T (p.Lys745Ile)
c.2210A>T (p.Lys737Ile)
13g.108209071T>CCA388613807LIG4c.1997A>G (p.Lys666Arg)
c.2198A>G (p.Lys733Arg)
c.2234A>G (p.Lys745Arg)
c.2210A>G (p.Lys737Arg)
13g.108209071T>GCA388613806LIG4c.1997A>C (p.Lys666Thr)
c.2198A>C (p.Lys733Thr)
c.2234A>C (p.Lys745Thr)
c.2210A>C (p.Lys737Thr)
13g.108209072T>ACA388613808LIG4c.1996A>T (p.Lys666Ter)
c.2197A>T (p.Lys733Ter)
c.2233A>T (p.Lys745Ter)
c.2209A>T (p.Lys737Ter)
13g.108209072T>CCA7043547LIG4c.1996A>G (p.Lys666Glu)
c.2197A>G (p.Lys733Glu)
c.2233A>G (p.Lys745Glu)
c.2209A>G (p.Lys737Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209072T>GCA388613809LIG4c.1996A>C (p.Lys666Gln)
c.2197A>C (p.Lys733Gln)
c.2233A>C (p.Lys745Gln)
c.2209A>C (p.Lys737Gln)
13g.108209072T=CA2117794036LIG4c.1996A= (p.Lys666=)
c.2197A= (p.Lys733=)
c.2233A= (p.Lys745=)
c.2209A= (p.Lys737=)
13g.108209073G>ACA484975068LIG4c.1995C>T (p.Thr665=)
c.2196C>T (p.Thr732=)
c.2232C>T (p.Thr744=)
c.2208C>T (p.Thr736=)
13g.108209073G>CCA484975070LIG4c.1995C>G (p.Thr665=)
c.2196C>G (p.Thr732=)
c.2232C>G (p.Thr744=)
c.2208C>G (p.Thr736=)
13g.108209073G>TCA484975072LIG4c.1995C>A (p.Thr665=)
c.2196C>A (p.Thr732=)
c.2232C>A (p.Thr744=)
c.2208C>A (p.Thr736=)
13g.108209074G>ACA388613810LIG4c.1994C>T (p.Thr665Ile)
c.2195C>T (p.Thr732Ile)
c.2231C>T (p.Thr744Ile)
c.2207C>T (p.Thr736Ile)
13g.108209074G>CCA388613811LIG4c.1994C>G (p.Thr665Ser)
c.2195C>G (p.Thr732Ser)
c.2231C>G (p.Thr744Ser)
c.2207C>G (p.Thr736Ser)
13g.108209074G=CA2117794037LIG4c.1994C= (p.Thr665=)
c.2195C= (p.Thr732=)
c.2231C= (p.Thr744=)
c.2207C= (p.Thr736=)
13g.108209074G>TCA7043548LIG4c.1994C>A (p.Thr665Asn)
c.2195C>A (p.Thr732Asn)
c.2231C>A (p.Thr744Asn)
c.2207C>A (p.Thr736Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209075T>ACA388613812LIG4c.1993A>T (p.Thr665Ser)
c.2194A>T (p.Thr732Ser)
c.2230A>T (p.Thr744Ser)
c.2206A>T (p.Thr736Ser)
13g.108209075T>CCA388613813LIG4c.1993A>G (p.Thr665Ala)
c.2194A>G (p.Thr732Ala)
c.2230A>G (p.Thr744Ala)
c.2206A>G (p.Thr736Ala)
13g.108209075T>GCA388613814LIG4c.1993A>C (p.Thr665Pro)
c.2194A>C (p.Thr732Pro)
c.2230A>C (p.Thr744Pro)
c.2206A>C (p.Thr736Pro)
13g.108209076C>ACA388613815LIG4c.1992G>T (p.Lys664Asn)
c.2193G>T (p.Lys731Asn)
c.2229G>T (p.Lys743Asn)
c.2205G>T (p.Lys735Asn)
13g.108209076C=CA2117794038LIG4c.1992G= (p.Lys664=)
c.2193G= (p.Lys731=)
c.2229G= (p.Lys743=)
c.2205G= (p.Lys735=)
13g.108209076C>GCA388613816LIG4c.1992G>C (p.Lys664Asn)
c.2193G>C (p.Lys731Asn)
c.2229G>C (p.Lys743Asn)
c.2205G>C (p.Lys735Asn)
 ClinVar dbSNP gnomAD v4
13g.108209076C>TCA484975074LIG4c.1992G>A (p.Lys664=)
c.2193G>A (p.Lys731=)
c.2229G>A (p.Lys743=)
c.2205G>A (p.Lys735=)
13g.108209077T>ACA388613818LIG4c.1991A>T (p.Lys664Met)
c.2192A>T (p.Lys731Met)
c.2228A>T (p.Lys743Met)
c.2204A>T (p.Lys735Met)
13g.108209077T>CCA388613819LIG4c.1991A>G (p.Lys664Arg)
c.2192A>G (p.Lys731Arg)
c.2228A>G (p.Lys743Arg)
c.2204A>G (p.Lys735Arg)
 gnomAD v4
13g.108209077T>GCA388613817LIG4c.1991A>C (p.Lys664Thr)
c.2192A>C (p.Lys731Thr)
c.2228A>C (p.Lys743Thr)
c.2204A>C (p.Lys735Thr)
13g.108209078T>ACA388613820LIG4c.1990A>T (p.Lys664Ter)
c.2191A>T (p.Lys731Ter)
c.2227A>T (p.Lys743Ter)
c.2203A>T (p.Lys735Ter)
13g.108209078T>CCA388613821LIG4c.1990A>G (p.Lys664Glu)
c.2191A>G (p.Lys731Glu)
c.2227A>G (p.Lys743Glu)
c.2203A>G (p.Lys735Glu)
13g.108209078T>GCA388613822LIG4c.1990A>C (p.Lys664Gln)
c.2191A>C (p.Lys731Gln)
c.2227A>C (p.Lys743Gln)
c.2203A>C (p.Lys735Gln)
13g.108209079A=CA2117794039LIG4c.1989T= (p.Phe663=)
c.2190T= (p.Phe730=)
c.2226T= (p.Phe742=)
c.2202T= (p.Phe734=)
13g.108209079A>CCA388613823LIG4c.1989T>G (p.Phe663Leu)
c.2190T>G (p.Phe730Leu)
c.2226T>G (p.Phe742Leu)
c.2202T>G (p.Phe734Leu)
13g.108209079A>GCA484975082LIG4c.1989T>C (p.Phe663=)
c.2190T>C (p.Phe730=)
c.2226T>C (p.Phe742=)
c.2202T>C (p.Phe734=)
 dbSNP
13g.108209079A>TCA388613824LIG4c.1989T>A (p.Phe663Leu)
c.2190T>A (p.Phe730Leu)
c.2226T>A (p.Phe742Leu)
c.2202T>A (p.Phe734Leu)
13g.108209082delCA2575452312LIG4c.1989del (p.Phe663LeufsTer14)
c.2190del (p.Phe730LeufsTer14)
c.2226del (p.Phe742LeufsTer14)
c.2202del (p.Phe734LeufsTer14)
 ClinVar
13g.108209080A>CCA388613825LIG4c.1988T>G (p.Phe663Cys)
c.2189T>G (p.Phe730Cys)
c.2225T>G (p.Phe742Cys)
c.2201T>G (p.Phe734Cys)
 ClinVar gnomAD v4
13g.108209080A>GCA388613826LIG4c.1988T>C (p.Phe663Ser)
c.2189T>C (p.Phe730Ser)
c.2225T>C (p.Phe742Ser)
c.2201T>C (p.Phe734Ser)
13g.108209080A>TCA388613827LIG4c.1988T>A (p.Phe663Tyr)
c.2189T>A (p.Phe730Tyr)
c.2225T>A (p.Phe742Tyr)
c.2201T>A (p.Phe734Tyr)
13g.108209081A>CCA388613828LIG4c.1987T>G (p.Phe663Val)
c.2188T>G (p.Phe730Val)
c.2224T>G (p.Phe742Val)
c.2200T>G (p.Phe734Val)
13g.108209081A>GCA388613829LIG4c.1987T>C (p.Phe663Leu)
c.2188T>C (p.Phe730Leu)
c.2224T>C (p.Phe742Leu)
c.2200T>C (p.Phe734Leu)
13g.108209081A>TCA388613830LIG4c.1987T>A (p.Phe663Ile)
c.2188T>A (p.Phe730Ile)
c.2224T>A (p.Phe742Ile)
c.2200T>A (p.Phe734Ile)
13g.108209082A>CCA388613831LIG4c.1986T>G (p.Cys662Trp)
c.2187T>G (p.Cys729Trp)
c.2223T>G (p.Cys741Trp)
c.2199T>G (p.Cys733Trp)
13g.108209082A>GCA484975084LIG4c.1986T>C (p.Cys662=)
c.2187T>C (p.Cys729=)
c.2223T>C (p.Cys741=)
c.2199T>C (p.Cys733=)
13g.108209082A>TCA388613832LIG4c.1986T>A (p.Cys662Ter)
c.2187T>A (p.Cys729Ter)
c.2223T>A (p.Cys741Ter)
c.2199T>A (p.Cys733Ter)
13g.108209083C>ACA388613835LIG4c.1985G>T (p.Cys662Phe)
c.2186G>T (p.Cys729Phe)
c.2222G>T (p.Cys741Phe)
c.2198G>T (p.Cys733Phe)
13g.108209083C>GCA388613834LIG4c.1985G>C (p.Cys662Ser)
c.2186G>C (p.Cys729Ser)
c.2222G>C (p.Cys741Ser)
c.2198G>C (p.Cys733Ser)
13g.108209083C>TCA388613833LIG4c.1985G>A (p.Cys662Tyr)
c.2186G>A (p.Cys729Tyr)
c.2222G>A (p.Cys741Tyr)
c.2198G>A (p.Cys733Tyr)
13g.108209084A>CCA388613836LIG4c.1984T>G (p.Cys662Gly)
c.2185T>G (p.Cys729Gly)
c.2221T>G (p.Cys741Gly)
c.2197T>G (p.Cys733Gly)
13g.108209084A>GCA388613837LIG4c.1984T>C (p.Cys662Arg)
c.2185T>C (p.Cys729Arg)
c.2221T>C (p.Cys741Arg)
c.2197T>C (p.Cys733Arg)
13g.108209084A>TCA388613838LIG4c.1984T>A (p.Cys662Ser)
c.2185T>A (p.Cys729Ser)
c.2221T>A (p.Cys741Ser)
c.2197T>A (p.Cys733Ser)
13g.108209084_108209085delinsATCA2117794040LIG4c.1983_1984delinsAT (p.Glu661=)
c.2184_2185delinsAT (p.Glu728=)
c.2220_2221delinsAT (p.Glu740=)
c.2196_2197delinsAT (p.Glu732=)
13g.108209085T>ACA388613839LIG4c.1983A>T (p.Glu661Asp)
c.2184A>T (p.Glu728Asp)
c.2220A>T (p.Glu740Asp)
c.2196A>T (p.Glu732Asp)
13g.108209085T>CCA484975086LIG4c.1983A>G (p.Glu661=)
c.2184A>G (p.Glu728=)
c.2220A>G (p.Glu740=)
c.2196A>G (p.Glu732=)
 gnomAD v3 gnomAD v4
13g.108209085T>GCA388613840LIG4c.1983A>C (p.Glu661Asp)
c.2184A>C (p.Glu728Asp)
c.2220A>C (p.Glu740Asp)
c.2196A>C (p.Glu732Asp)
13g.108209086delCA7043549LIG4c.1983del (p.Glu661AspfsTer16)
c.2184del (p.Glu728AspfsTer16)
c.2220del (p.Glu740AspfsTer16)
c.2196del (p.Glu732AspfsTer16)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209086T>ACA388613841LIG4c.1982A>T (p.Glu661Val)
c.2183A>T (p.Glu728Val)
c.2219A>T (p.Glu740Val)
c.2195A>T (p.Glu732Val)
13g.108209086T>CCA388613842LIG4c.1982A>G (p.Glu661Gly)
c.2183A>G (p.Glu728Gly)
c.2219A>G (p.Glu740Gly)
c.2195A>G (p.Glu732Gly)
 dbSNP
13g.108209086T>GCA388613843LIG4c.1982A>C (p.Glu661Ala)
c.2183A>C (p.Glu728Ala)
c.2219A>C (p.Glu740Ala)
c.2195A>C (p.Glu732Ala)
13g.108209087C>ACA388613844LIG4c.1981G>T (p.Glu661Ter)
c.2182G>T (p.Glu728Ter)
c.2218G>T (p.Glu740Ter)
c.2194G>T (p.Glu732Ter)
13g.108209087C=CA2117794041LIG4c.1981G= (p.Glu661=)
c.2182G= (p.Glu728=)
c.2218G= (p.Glu740=)
c.2194G= (p.Glu732=)
13g.108209087C>GCA388613845LIG4c.1981G>C (p.Glu661Gln)
c.2182G>C (p.Glu728Gln)
c.2218G>C (p.Glu740Gln)
c.2194G>C (p.Glu732Gln)
13g.108209087C>TCA7043550LIG4c.1981G>A (p.Glu661Lys)
c.2182G>A (p.Glu728Lys)
c.2218G>A (p.Glu740Lys)
c.2194G>A (p.Glu732Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209088T>ACA388613846LIG4c.1980A>T (p.Leu660Phe)
c.2181A>T (p.Leu727Phe)
c.2217A>T (p.Leu739Phe)
c.2193A>T (p.Leu731Phe)
13g.108209088T>CCA484975090LIG4c.1980A>G (p.Leu660=)
c.2181A>G (p.Leu727=)
c.2217A>G (p.Leu739=)
c.2193A>G (p.Leu731=)
13g.108209088T>GCA388613847LIG4c.1980A>C (p.Leu660Phe)
c.2181A>C (p.Leu727Phe)
c.2217A>C (p.Leu739Phe)
c.2193A>C (p.Leu731Phe)
13g.108209089A=CA2117794042LIG4c.1979T= (p.Leu660=)
c.2180T= (p.Leu727=)
c.2216T= (p.Leu739=)
c.2192T= (p.Leu731=)
13g.108209089A>CCA388613849LIG4c.1979T>G (p.Leu660Ter)
c.2180T>G (p.Leu727Ter)
c.2216T>G (p.Leu739Ter)
c.2192T>G (p.Leu731Ter)
13g.108209089A>GCA256179973LIG4c.1979T>C (p.Leu660Ser)
c.2180T>C (p.Leu727Ser)
c.2216T>C (p.Leu739Ser)
c.2192T>C (p.Leu731Ser)
 dbSNP
13g.108209089A>TCA388613848LIG4c.1979T>A (p.Leu660Ter)
c.2180T>A (p.Leu727Ter)
c.2216T>A (p.Leu739Ter)
c.2192T>A (p.Leu731Ter)
13g.108209090A>CCA388613851LIG4c.1978T>G (p.Leu660Val)
c.2179T>G (p.Leu727Val)
c.2215T>G (p.Leu739Val)
c.2191T>G (p.Leu731Val)
13g.108209090A>GCA484975091LIG4c.1978T>C (p.Leu660=)
c.2179T>C (p.Leu727=)
c.2215T>C (p.Leu739=)
c.2191T>C (p.Leu731=)
13g.108209090A>TCA388613850LIG4c.1978T>A (p.Leu660Ile)
c.2179T>A (p.Leu727Ile)
c.2215T>A (p.Leu739Ile)
c.2191T>A (p.Leu731Ile)
13g.108209091A>CCA484975198LIG4c.1977T>G (p.Leu659=)
c.2178T>G (p.Leu726=)
c.2214T>G (p.Leu738=)
c.2190T>G (p.Leu730=)
13g.108209091A>GCA484975200LIG4c.1977T>C (p.Leu659=)
c.2178T>C (p.Leu726=)
c.2214T>C (p.Leu738=)
c.2190T>C (p.Leu730=)
13g.108209091A>TCA484975201LIG4c.1977T>A (p.Leu659=)
c.2178T>A (p.Leu726=)
c.2214T>A (p.Leu738=)
c.2190T>A (p.Leu730=)
13g.108209092A>CCA388613853LIG4c.1976T>G (p.Leu659Arg)
c.2177T>G (p.Leu726Arg)
c.2213T>G (p.Leu738Arg)
c.2189T>G (p.Leu730Arg)
13g.108209092A>GCA388613852LIG4c.1976T>C (p.Leu659Pro)
c.2177T>C (p.Leu726Pro)
c.2213T>C (p.Leu738Pro)
c.2189T>C (p.Leu730Pro)
13g.108209092A>TCA388613854LIG4c.1976T>A (p.Leu659His)
c.2177T>A (p.Leu726His)
c.2213T>A (p.Leu738His)
c.2189T>A (p.Leu730His)
13g.108209093G>ACA388613855LIG4c.1975C>T (p.Leu659Phe)
c.2176C>T (p.Leu726Phe)
c.2212C>T (p.Leu738Phe)
c.2188C>T (p.Leu730Phe)
13g.108209093G>CCA388613856LIG4c.1975C>G (p.Leu659Val)
c.2176C>G (p.Leu726Val)
c.2212C>G (p.Leu738Val)
c.2188C>G (p.Leu730Val)
13g.108209093G>TCA388613857LIG4c.1975C>A (p.Leu659Ile)
c.2176C>A (p.Leu726Ile)
c.2212C>A (p.Leu738Ile)
c.2188C>A (p.Leu730Ile)
13g.108209093_108209094delinsGCCA2117794043LIG4c.1974_1975delinsGC (p.Trp658=)
c.2175_2176delinsGC (p.Trp725=)
c.2211_2212delinsGC (p.Trp737=)
c.2187_2188delinsGC (p.Trp729=)
13g.108209094C>ACA388613858LIG4c.1974G>T (p.Trp658Cys)
c.2175G>T (p.Trp725Cys)
c.2211G>T (p.Trp737Cys)
c.2187G>T (p.Trp729Cys)
13g.108209094C>GCA388613859LIG4c.1974G>C (p.Trp658Cys)
c.2175G>C (p.Trp725Cys)
c.2211G>C (p.Trp737Cys)
c.2187G>C (p.Trp729Cys)
13g.108209094C>TCA388613860LIG4c.1974G>A (p.Trp658Ter)
c.2175G>A (p.Trp725Ter)
c.2211G>A (p.Trp737Ter)
c.2187G>A (p.Trp729Ter)
13g.108209095delCA612360449LIG4c.1974del (p.Trp658CysfsTer3)
c.2175del (p.Trp725CysfsTer3)
c.2211del (p.Trp737CysfsTer3)
c.2187del (p.Trp729CysfsTer3)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209095C>ACA388613863LIG4c.1973G>T (p.Trp658Leu)
c.2174G>T (p.Trp725Leu)
c.2210G>T (p.Trp737Leu)
c.2186G>T (p.Trp729Leu)
13g.108209095C>GCA388613862LIG4c.1973G>C (p.Trp658Ser)
c.2174G>C (p.Trp725Ser)
c.2210G>C (p.Trp737Ser)
c.2186G>C (p.Trp729Ser)
13g.108209095C>TCA388613861LIG4c.1973G>A (p.Trp658Ter)
c.2174G>A (p.Trp725Ter)
c.2210G>A (p.Trp737Ter)
c.2186G>A (p.Trp729Ter)
13g.108209096A>CCA388613864LIG4c.1972T>G (p.Trp658Gly)
c.2173T>G (p.Trp725Gly)
c.2209T>G (p.Trp737Gly)
c.2185T>G (p.Trp729Gly)
13g.108209096A>GCA388613865LIG4c.1972T>C (p.Trp658Arg)
c.2173T>C (p.Trp725Arg)
c.2209T>C (p.Trp737Arg)
c.2185T>C (p.Trp729Arg)
 gnomAD v4
13g.108209096A>TCA388613866LIG4c.1972T>A (p.Trp658Arg)
c.2173T>A (p.Trp725Arg)
c.2209T>A (p.Trp737Arg)
c.2185T>A (p.Trp729Arg)
 gnomAD v4
13g.108209097T>ACA484975210LIG4c.1971A>T (p.Ala657=)
c.2172A>T (p.Ala724=)
c.2208A>T (p.Ala736=)
c.2184A>T (p.Ala728=)
 gnomAD v4
13g.108209097T>CCA484975212LIG4c.1971A>G (p.Ala657=)
c.2172A>G (p.Ala724=)
c.2208A>G (p.Ala736=)
c.2184A>G (p.Ala728=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108209097T>GCA484975213LIG4c.1971A>C (p.Ala657=)
c.2172A>C (p.Ala724=)
c.2208A>C (p.Ala736=)
c.2184A>C (p.Ala728=)
 ClinVar
13g.108209097T=CA2117794044LIG4c.1971A= (p.Ala657=)
c.2172A= (p.Ala724=)
c.2208A= (p.Ala736=)
c.2184A= (p.Ala728=)
13g.108209098G>ACA388613867LIG4c.1970C>T (p.Ala657Val)
c.2171C>T (p.Ala724Val)
c.2207C>T (p.Ala736Val)
c.2183C>T (p.Ala728Val)
13g.108209098G>CCA388613868LIG4c.1970C>G (p.Ala657Gly)
c.2171C>G (p.Ala724Gly)
c.2207C>G (p.Ala736Gly)
c.2183C>G (p.Ala728Gly)
13g.108209098G=CA2117794045LIG4c.1970C= (p.Ala657=)
c.2171C= (p.Ala724=)
c.2207C= (p.Ala736=)
c.2183C= (p.Ala728=)
13g.108209098G>TCA388613869LIG4c.1970C>A (p.Ala657Glu)
c.2171C>A (p.Ala724Glu)
c.2207C>A (p.Ala736Glu)
c.2183C>A (p.Ala728Glu)
 dbSNP gnomAD v2 gnomAD v4
13g.108209099C>ACA388613870LIG4c.1969G>T (p.Ala657Ser)
c.2170G>T (p.Ala724Ser)
c.2206G>T (p.Ala736Ser)
c.2182G>T (p.Ala728Ser)
13g.108209099C>GCA388613872LIG4c.1969G>C (p.Ala657Pro)
c.2170G>C (p.Ala724Pro)
c.2206G>C (p.Ala736Pro)
c.2182G>C (p.Ala728Pro)
13g.108209099C>TCA388613871LIG4c.1969G>A (p.Ala657Thr)
c.2170G>A (p.Ala724Thr)
c.2206G>A (p.Ala736Thr)
c.2182G>A (p.Ala728Thr)
 gnomAD v4
13g.108209099_108209119delCA2623644098LIG4c.1949_1969del (p.Lys650_Ala657delinsThr)
c.2150_2170del (p.Lys717_Ala724delinsThr)
c.2186_2206del (p.Lys729_Ala736delinsThr)
c.2162_2182del (p.Lys721_Ala728delinsThr)
 gnomAD v4
13g.108209100A=CA2117794046LIG4c.1968T= (p.Pro656=)
c.2169T= (p.Pro723=)
c.2205T= (p.Pro735=)
c.2181T= (p.Pro727=)
13g.108209100A>CCA484975217LIG4c.1968T>G (p.Pro656=)
c.2169T>G (p.Pro723=)
c.2205T>G (p.Pro735=)
c.2181T>G (p.Pro727=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209100A>GCA484975218LIG4c.1968T>C (p.Pro656=)
c.2169T>C (p.Pro723=)
c.2205T>C (p.Pro735=)
c.2181T>C (p.Pro727=)
13g.108209100A>TCA484975219LIG4c.1968T>A (p.Pro656=)
c.2169T>A (p.Pro723=)
c.2205T>A (p.Pro735=)
c.2181T>A (p.Pro727=)
13g.108209101G>ACA388613873LIG4c.1967C>T (p.Pro656Leu)
c.2168C>T (p.Pro723Leu)
c.2204C>T (p.Pro735Leu)
c.2180C>T (p.Pro727Leu)
13g.108209101G>CCA388613874LIG4c.1967C>G (p.Pro656Arg)
c.2168C>G (p.Pro723Arg)
c.2204C>G (p.Pro735Arg)
c.2180C>G (p.Pro727Arg)
 COSMIC
13g.108209101G>TCA388613875LIG4c.1967C>A (p.Pro656His)
c.2168C>A (p.Pro723His)
c.2204C>A (p.Pro735His)
c.2180C>A (p.Pro727His)
13g.108209102G>ACA388613876LIG4c.1966C>T (p.Pro656Ser)
c.2167C>T (p.Pro723Ser)
c.2203C>T (p.Pro735Ser)
c.2179C>T (p.Pro727Ser)
13g.108209102G>CCA388613877LIG4c.1966C>G (p.Pro656Ala)
c.2167C>G (p.Pro723Ala)
c.2203C>G (p.Pro735Ala)
c.2179C>G (p.Pro727Ala)
 gnomAD v4
13g.108209102G>TCA388613878LIG4c.1966C>A (p.Pro656Thr)
c.2167C>A (p.Pro723Thr)
c.2203C>A (p.Pro735Thr)
c.2179C>A (p.Pro727Thr)
13g.108209103C>ACA388613879LIG4c.1965G>T (p.Lys655Asn)
c.2166G>T (p.Lys722Asn)
c.2202G>T (p.Lys734Asn)
c.2178G>T (p.Lys726Asn)
13g.108209103C=CA2117794047LIG4c.1965G= (p.Lys655=)
c.2166G= (p.Lys722=)
c.2202G= (p.Lys734=)
c.2178G= (p.Lys726=)
13g.108209103C>GCA388613880LIG4c.1965G>C (p.Lys655Asn)
c.2166G>C (p.Lys722Asn)
c.2202G>C (p.Lys734Asn)
c.2178G>C (p.Lys726Asn)
13g.108209103C>TCA484975227LIG4c.1965G>A (p.Lys655=)
c.2166G>A (p.Lys722=)
c.2202G>A (p.Lys734=)
c.2178G>A (p.Lys726=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.108209104T>ACA388613881LIG4c.1964A>T (p.Lys655Met)
c.2165A>T (p.Lys722Met)
c.2201A>T (p.Lys734Met)
c.2177A>T (p.Lys726Met)
13g.108209104T>CCA388613882LIG4c.1964A>G (p.Lys655Arg)
c.2165A>G (p.Lys722Arg)
c.2201A>G (p.Lys734Arg)
c.2177A>G (p.Lys726Arg)
 dbSNP
13g.108209104T>GCA388613883LIG4c.1964A>C (p.Lys655Thr)
c.2165A>C (p.Lys722Thr)
c.2201A>C (p.Lys734Thr)
c.2177A>C (p.Lys726Thr)
13g.108209104T=CA2117794048LIG4c.1964A= (p.Lys655=)
c.2165A= (p.Lys722=)
c.2201A= (p.Lys734=)
c.2177A= (p.Lys726=)
13g.108209105T>ACA388613884LIG4c.1963A>T (p.Lys655Ter)
c.2164A>T (p.Lys722Ter)
c.2200A>T (p.Lys734Ter)
c.2176A>T (p.Lys726Ter)
13g.108209105T>CCA388613886LIG4c.1963A>G (p.Lys655Glu)
c.2164A>G (p.Lys722Glu)
c.2200A>G (p.Lys734Glu)
c.2176A>G (p.Lys726Glu)
13g.108209105T>GCA388613885LIG4c.1963A>C (p.Lys655Gln)
c.2164A>C (p.Lys722Gln)
c.2200A>C (p.Lys734Gln)
c.2176A>C (p.Lys726Gln)
13g.108209106G>ACA484975228LIG4c.1962C>T (p.Val654=)
c.2163C>T (p.Val721=)
c.2199C>T (p.Val733=)
c.2175C>T (p.Val725=)
13g.108209106G>CCA484975229LIG4c.1962C>G (p.Val654=)
c.2163C>G (p.Val721=)
c.2199C>G (p.Val733=)
c.2175C>G (p.Val725=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108209106G=CA2117794049LIG4c.1962C= (p.Val654=)
c.2163C= (p.Val721=)
c.2199C= (p.Val733=)
c.2175C= (p.Val725=)
13g.108209106G>TCA484975230LIG4c.1962C>A (p.Val654=)
c.2163C>A (p.Val721=)
c.2199C>A (p.Val733=)
c.2175C>A (p.Val725=)
13g.108209107A>CCA388613887LIG4c.1961T>G (p.Val654Gly)
c.2162T>G (p.Val721Gly)
c.2198T>G (p.Val733Gly)
c.2174T>G (p.Val725Gly)
13g.108209107A>GCA388613888LIG4c.1961T>C (p.Val654Ala)
c.2162T>C (p.Val721Ala)
c.2198T>C (p.Val733Ala)
c.2174T>C (p.Val725Ala)
13g.108209107A>TCA388613889LIG4c.1961T>A (p.Val654Asp)
c.2162T>A (p.Val721Asp)
c.2198T>A (p.Val733Asp)
c.2174T>A (p.Val725Asp)
13g.108209110_108209112delCA2623644099LIG4c.1959_1961del (p.Val654del)
c.2160_2162del (p.Val721del)
c.2196_2198del (p.Val733del)
c.2172_2174del (p.Val725del)
 gnomAD v4
13g.108209108C>ACA388613890LIG4c.1960G>T (p.Val654Phe)
c.2161G>T (p.Val721Phe)
c.2197G>T (p.Val733Phe)
c.2173G>T (p.Val725Phe)
13g.108209108C=CA2117794050LIG4c.1960G= (p.Val654=)
c.2161G= (p.Val721=)
c.2197G= (p.Val733=)
c.2173G= (p.Val725=)
13g.108209108C>GCA7043552LIG4c.1960G>C (p.Val654Leu)
c.2161G>C (p.Val721Leu)
c.2197G>C (p.Val733Leu)
c.2173G>C (p.Val725Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209108C>TCA7043551LIG4c.1960G>A (p.Val654Ile)
c.2161G>A (p.Val721Ile)
c.2197G>A (p.Val733Ile)
c.2173G>A (p.Val725Ile)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
13g.108209109A>CCA484975232LIG4c.1959T>G (p.Val653=)
c.2160T>G (p.Val720=)
c.2196T>G (p.Val732=)
c.2172T>G (p.Val724=)
13g.108209109A>GCA484975234LIG4c.1959T>C (p.Val653=)
c.2160T>C (p.Val720=)
c.2196T>C (p.Val732=)
c.2172T>C (p.Val724=)
 dbSNP
13g.108209109A>TCA484975236LIG4c.1959T>A (p.Val653=)
c.2160T>A (p.Val720=)
c.2196T>A (p.Val732=)
c.2172T>A (p.Val724=)
13g.108209110A>CCA388613891LIG4c.1958T>G (p.Val653Gly)
c.2159T>G (p.Val720Gly)
c.2195T>G (p.Val732Gly)
c.2171T>G (p.Val724Gly)
13g.108209110A>GCA388613892LIG4c.1958T>C (p.Val653Ala)
c.2159T>C (p.Val720Ala)
c.2195T>C (p.Val732Ala)
c.2171T>C (p.Val724Ala)
13g.108209110A>TCA388613893LIG4c.1958T>A (p.Val653Asp)
c.2159T>A (p.Val720Asp)
c.2195T>A (p.Val732Asp)
c.2171T>A (p.Val724Asp)
 gnomAD v4
13g.108209111C>ACA388613894LIG4c.1957G>T (p.Val653Phe)
c.2158G>T (p.Val720Phe)
c.2194G>T (p.Val732Phe)
c.2170G>T (p.Val724Phe)
13g.108209111C=CA2117794051LIG4c.1957G= (p.Val653=)
c.2158G= (p.Val720=)
c.2194G= (p.Val732=)
c.2170G= (p.Val724=)
13g.108209111C>GCA388613895LIG4c.1957G>C (p.Val653Leu)
c.2158G>C (p.Val720Leu)
c.2194G>C (p.Val732Leu)
c.2170G>C (p.Val724Leu)
13g.108209111C>TCA388613896LIG4c.1957G>A (p.Val653Ile)
c.2158G>A (p.Val720Ile)
c.2194G>A (p.Val732Ile)
c.2170G>A (p.Val724Ile)
 dbSNP
13g.108209114_108209116delCA2623644100LIG4c.1955_1957del (p.Asp652del)
c.2156_2158del (p.Asp719del)
c.2192_2194del (p.Asp731del)
c.2168_2170del (p.Asp723del)
 gnomAD v4
13g.108209112A>CCA388613898LIG4c.1956T>G (p.Asp652Glu)
c.2157T>G (p.Asp719Glu)
c.2193T>G (p.Asp731Glu)
c.2169T>G (p.Asp723Glu)
13g.108209112A>GCA484975242LIG4c.1956T>C (p.Asp652=)
c.2157T>C (p.Asp719=)
c.2193T>C (p.Asp731=)
c.2169T>C (p.Asp723=)
 ClinVar dbSNP gnomAD v4
13g.108209112A>TCA388613897LIG4c.1956T>A (p.Asp652Glu)
c.2157T>A (p.Asp719Glu)
c.2193T>A (p.Asp731Glu)
c.2169T>A (p.Asp723Glu)
13g.108209113T>ACA388613899LIG4c.1955A>T (p.Asp652Val)
c.2156A>T (p.Asp719Val)
c.2192A>T (p.Asp731Val)
c.2168A>T (p.Asp723Val)
13g.108209113T>CCA388613900LIG4c.1955A>G (p.Asp652Gly)
c.2156A>G (p.Asp719Gly)
c.2192A>G (p.Asp731Gly)
c.2168A>G (p.Asp723Gly)
 gnomAD v4
13g.108209113T>GCA388613901LIG4c.1955A>C (p.Asp652Ala)
c.2156A>C (p.Asp719Ala)
c.2192A>C (p.Asp731Ala)
c.2168A>C (p.Asp723Ala)
13g.108209114C>ACA388613902LIG4c.1954G>T (p.Asp652Tyr)
c.2155G>T (p.Asp719Tyr)
c.2191G>T (p.Asp731Tyr)
c.2167G>T (p.Asp723Tyr)
13g.108209114C>GCA388613903LIG4c.1954G>C (p.Asp652His)
c.2155G>C (p.Asp719His)
c.2191G>C (p.Asp731His)
c.2167G>C (p.Asp723His)
13g.108209114C>TCA388613904LIG4c.1954G>A (p.Asp652Asn)
c.2155G>A (p.Asp719Asn)
c.2191G>A (p.Asp731Asn)
c.2167G>A (p.Asp723Asn)
13g.108209114_108209133delinsCATGTTTATTTGACAAAATTCA2117794052LIG4c.1935_1954delinsAATTTTGTCAAATAAACATG (p.Ile645=)
c.2136_2155delinsAATTTTGTCAAATAAACATG (p.Ile712=)
c.2172_2191delinsAATTTTGTCAAATAAACATG (p.Ile724=)
c.2148_2167delinsAATTTTGTCAAATAAACATG (p.Ile716=)
13g.108209115A>CCA388613905LIG4c.1953T>G (p.His651Gln)
c.2154T>G (p.His718Gln)
c.2190T>G (p.His730Gln)
c.2166T>G (p.His722Gln)
13g.108209115A>GCA484975249LIG4c.1953T>C (p.His651=)
c.2154T>C (p.His718=)
c.2190T>C (p.His730=)
c.2166T>C (p.His722=)
13g.108209115A>TCA388613906LIG4c.1953T>A (p.His651Gln)
c.2154T>A (p.His718Gln)
c.2190T>A (p.His730Gln)
c.2166T>A (p.His722Gln)
13g.108209121_108209139delCA7043553LIG4c.1935_1953del (p.Ile645MetfsTer10)
c.2136_2154del (p.Ile712MetfsTer10)
c.2172_2190del (p.Ile724MetfsTer10)
c.2148_2166del (p.Ile716MetfsTer10)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209116T>ACA388613907LIG4c.1952A>T (p.His651Leu)
c.2153A>T (p.His718Leu)
c.2189A>T (p.His730Leu)
c.2165A>T (p.His722Leu)
13g.108209116T>CCA388613908LIG4c.1952A>G (p.His651Arg)
c.2153A>G (p.His718Arg)
c.2189A>G (p.His730Arg)
c.2165A>G (p.His722Arg)
13g.108209116T>GCA388613909LIG4c.1952A>C (p.His651Pro)
c.2153A>C (p.His718Pro)
c.2189A>C (p.His730Pro)
c.2165A>C (p.His722Pro)
13g.108209117G>ACA388613911LIG4c.1951C>T (p.His651Tyr)
c.2152C>T (p.His718Tyr)
c.2188C>T (p.His730Tyr)
c.2164C>T (p.His722Tyr)
 gnomAD v4
13g.108209117G>CCA388613912LIG4c.1951C>G (p.His651Asp)
c.2152C>G (p.His718Asp)
c.2188C>G (p.His730Asp)
c.2164C>G (p.His722Asp)
13g.108209117G>TCA388613910LIG4c.1951C>A (p.His651Asn)
c.2152C>A (p.His718Asn)
c.2188C>A (p.His730Asn)
c.2164C>A (p.His722Asn)
13g.108209117_108209121delinsGTTTACA2117794053LIG4c.1947_1951delinsTAAAC (p.Asn649=)
c.2148_2152delinsTAAAC (p.Asn716=)
c.2184_2188delinsTAAAC (p.Asn728=)
c.2160_2164delinsTAAAC (p.Asn720=)
13g.108209118T>ACA388613914LIG4c.1950A>T (p.Lys650Asn)
c.2151A>T (p.Lys717Asn)
c.2187A>T (p.Lys729Asn)
c.2163A>T (p.Lys721Asn)
13g.108209118T>CCA484975254LIG4c.1950A>G (p.Lys650=)
c.2151A>G (p.Lys717=)
c.2187A>G (p.Lys729=)
c.2163A>G (p.Lys721=)
13g.108209118T>GCA388613913LIG4c.1950A>C (p.Lys650Asn)
c.2151A>C (p.Lys717Asn)
c.2187A>C (p.Lys729Asn)
c.2163A>C (p.Lys721Asn)
13g.108209121_108209124delCA7043554LIG4c.1947_1950del (p.Lys650MetfsTer10)
c.2148_2151del (p.Lys717MetfsTer10)
c.2184_2187del (p.Lys729MetfsTer10)
c.2160_2163del (p.Lys721MetfsTer10)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209119T>ACA388613915LIG4c.1949A>T (p.Lys650Ile)
c.2150A>T (p.Lys717Ile)
c.2186A>T (p.Lys729Ile)
c.2162A>T (p.Lys721Ile)
13g.108209119T>CCA388613916LIG4c.1949A>G (p.Lys650Arg)
c.2150A>G (p.Lys717Arg)
c.2186A>G (p.Lys729Arg)
c.2162A>G (p.Lys721Arg)
13g.108209119T>GCA388613917LIG4c.1949A>C (p.Lys650Thr)
c.2150A>C (p.Lys717Thr)
c.2186A>C (p.Lys729Thr)
c.2162A>C (p.Lys721Thr)
 gnomAD v4
13g.108209120T>ACA388613918LIG4c.1948A>T (p.Lys650Ter)
c.2149A>T (p.Lys717Ter)
c.2185A>T (p.Lys729Ter)
c.2161A>T (p.Lys721Ter)
13g.108209120T>CCA388613919LIG4c.1948A>G (p.Lys650Glu)
c.2149A>G (p.Lys717Glu)
c.2185A>G (p.Lys729Glu)
c.2161A>G (p.Lys721Glu)
13g.108209120T>GCA388613920LIG4c.1948A>C (p.Lys650Gln)
c.2149A>C (p.Lys717Gln)
c.2185A>C (p.Lys729Gln)
c.2161A>C (p.Lys721Gln)
13g.108209121A>CCA388613921LIG4c.1947T>G (p.Asn649Lys)
c.2148T>G (p.Asn716Lys)
c.2184T>G (p.Asn728Lys)
c.2160T>G (p.Asn720Lys)
13g.108209121A>GCA484975262LIG4c.1947T>C (p.Asn649=)
c.2148T>C (p.Asn716=)
c.2184T>C (p.Asn728=)
c.2160T>C (p.Asn720=)
13g.108209121A>TCA388613922LIG4c.1947T>A (p.Asn649Lys)
c.2148T>A (p.Asn716Lys)
c.2184T>A (p.Asn728Lys)
c.2160T>A (p.Asn720Lys)
13g.108209122T>ACA388613923LIG4c.1946A>T (p.Asn649Ile)
c.2147A>T (p.Asn716Ile)
c.2183A>T (p.Asn728Ile)
c.2159A>T (p.Asn720Ile)
13g.108209122T>CCA388613924LIG4c.1946A>G (p.Asn649Ser)
c.2147A>G (p.Asn716Ser)
c.2183A>G (p.Asn728Ser)
c.2159A>G (p.Asn720Ser)
13g.108209122T>GCA388613925LIG4c.1946A>C (p.Asn649Thr)
c.2147A>C (p.Asn716Thr)
c.2183A>C (p.Asn728Thr)
c.2159A>C (p.Asn720Thr)
13g.108209123T>ACA388613927LIG4c.1945A>T (p.Asn649Tyr)
c.2146A>T (p.Asn716Tyr)
c.2182A>T (p.Asn728Tyr)
c.2158A>T (p.Asn720Tyr)
13g.108209123T>CCA7043555LIG4c.1945A>G (p.Asn649Asp)
c.2146A>G (p.Asn716Asp)
c.2182A>G (p.Asn728Asp)
c.2158A>G (p.Asn720Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209123T>GCA388613926LIG4c.1945A>C (p.Asn649His)
c.2146A>C (p.Asn716His)
c.2182A>C (p.Asn728His)
c.2158A>C (p.Asn720His)
13g.108209123T=CA2117794054LIG4c.1945A= (p.Asn649=)
c.2146A= (p.Asn716=)
c.2182A= (p.Asn728=)
c.2158A= (p.Asn720=)
13g.108209124T>ACA484975268LIG4c.1944A>T (p.Ser648=)
c.2145A>T (p.Ser715=)
c.2181A>T (p.Ser727=)
c.2157A>T (p.Ser719=)
13g.108209124T>CCA484975266LIG4c.1944A>G (p.Ser648=)
c.2145A>G (p.Ser715=)
c.2181A>G (p.Ser727=)
c.2157A>G (p.Ser719=)
13g.108209124T>GCA484975264LIG4c.1944A>C (p.Ser648=)
c.2145A>C (p.Ser715=)
c.2181A>C (p.Ser727=)
c.2157A>C (p.Ser719=)
13g.108209125G>ACA388613928LIG4c.1943C>T (p.Ser648Leu)
c.2144C>T (p.Ser715Leu)
c.2180C>T (p.Ser727Leu)
c.2156C>T (p.Ser719Leu)
13g.108209125G>CCA388613929LIG4c.1943C>G (p.Ser648Ter)
c.2144C>G (p.Ser715Ter)
c.2180C>G (p.Ser727Ter)
c.2156C>G (p.Ser719Ter)
 gnomAD v4
13g.108209125G>TCA388613930LIG4c.1943C>A (p.Ser648Ter)
c.2144C>A (p.Ser715Ter)
c.2180C>A (p.Ser727Ter)
c.2156C>A (p.Ser719Ter)
13g.108209126A=CA2117794055LIG4c.1942T= (p.Ser648=)
c.2143T= (p.Ser715=)
c.2179T= (p.Ser727=)
c.2155T= (p.Ser719=)
13g.108209126A>CCA388613931LIG4c.1942T>G (p.Ser648Ala)
c.2143T>G (p.Ser715Ala)
c.2179T>G (p.Ser727Ala)
c.2155T>G (p.Ser719Ala)
13g.108209126A>GCA256180025LIG4c.1942T>C (p.Ser648Pro)
c.2143T>C (p.Ser715Pro)
c.2179T>C (p.Ser727Pro)
c.2155T>C (p.Ser719Pro)
 dbSNP gnomAD v4
13g.108209126A>TCA388613932LIG4c.1942T>A (p.Ser648Thr)
c.2143T>A (p.Ser715Thr)
c.2179T>A (p.Ser727Thr)
c.2155T>A (p.Ser719Thr)
 ClinVar dbSNP
13g.108209127C>ACA388613933LIG4c.1941G>T (p.Leu647Phe)
c.2142G>T (p.Leu714Phe)
c.2178G>T (p.Leu726Phe)
c.2154G>T (p.Leu718Phe)
 gnomAD v4
13g.108209127C>GCA388613934LIG4c.1941G>C (p.Leu647Phe)
c.2142G>C (p.Leu714Phe)
c.2178G>C (p.Leu726Phe)
c.2154G>C (p.Leu718Phe)
13g.108209127C>TCA484975272LIG4c.1941G>A (p.Leu647=)
c.2142G>A (p.Leu714=)
c.2178G>A (p.Leu726=)
c.2154G>A (p.Leu718=)
13g.108209128A>CCA388613935LIG4c.1940T>G (p.Leu647Trp)
c.2141T>G (p.Leu714Trp)
c.2177T>G (p.Leu726Trp)
c.2153T>G (p.Leu718Trp)
13g.108209128A>GCA388613936LIG4c.1940T>C (p.Leu647Ser)
c.2141T>C (p.Leu714Ser)
c.2177T>C (p.Leu726Ser)
c.2153T>C (p.Leu718Ser)
 dbSNP gnomAD v4
13g.108209128A>TCA388613937LIG4c.1940T>A (p.Leu647Ter)
c.2141T>A (p.Leu714Ter)
c.2177T>A (p.Leu726Ter)
c.2153T>A (p.Leu718Ter)
13g.108209129A>CCA388613938LIG4c.1939T>G (p.Leu647Val)
c.2140T>G (p.Leu714Val)
c.2176T>G (p.Leu726Val)
c.2152T>G (p.Leu718Val)
13g.108209129A>GCA484975276LIG4c.1939T>C (p.Leu647=)
c.2140T>C (p.Leu714=)
c.2176T>C (p.Leu726=)
c.2152T>C (p.Leu718=)
13g.108209129A>TCA388613939LIG4c.1939T>A (p.Leu647Met)
c.2140T>A (p.Leu714Met)
c.2176T>A (p.Leu726Met)
c.2152T>A (p.Leu718Met)
13g.108209130A=CA2117794056LIG4c.1938T= (p.Ile646=)
c.2139T= (p.Ile713=)
c.2175T= (p.Ile725=)
c.2151T= (p.Ile717=)
13g.108209130A>CCA388613940LIG4c.1938T>G (p.Ile646Met)
c.2139T>G (p.Ile713Met)
c.2175T>G (p.Ile725Met)
c.2151T>G (p.Ile717Met)
 ClinVar dbSNP gnomAD v4
13g.108209130A>GCA484975280LIG4c.1938T>C (p.Ile646=)
c.2139T>C (p.Ile713=)
c.2175T>C (p.Ile725=)
c.2151T>C (p.Ile717=)
13g.108209130A>TCA484975277LIG4c.1938T>A (p.Ile646=)
c.2139T>A (p.Ile713=)
c.2175T>A (p.Ile725=)
c.2151T>A (p.Ile717=)
13g.108209131A>CCA388613943LIG4c.1937T>G (p.Ile646Ser)
c.2138T>G (p.Ile713Ser)
c.2174T>G (p.Ile725Ser)
c.2150T>G (p.Ile717Ser)
13g.108209131A>GCA388613941LIG4c.1937T>C (p.Ile646Thr)
c.2138T>C (p.Ile713Thr)
c.2174T>C (p.Ile725Thr)
c.2150T>C (p.Ile717Thr)
13g.108209131A>TCA388613942LIG4c.1937T>A (p.Ile646Asn)
c.2138T>A (p.Ile713Asn)
c.2174T>A (p.Ile725Asn)
c.2150T>A (p.Ile717Asn)
13g.108209132T>ACA388613944LIG4c.1936A>T (p.Ile646Phe)
c.2137A>T (p.Ile713Phe)
c.2173A>T (p.Ile725Phe)
c.2149A>T (p.Ile717Phe)
13g.108209132T>CCA388613945LIG4c.1936A>G (p.Ile646Val)
c.2137A>G (p.Ile713Val)
c.2173A>G (p.Ile725Val)
c.2149A>G (p.Ile717Val)
13g.108209132T>GCA388613946LIG4c.1936A>C (p.Ile646Leu)
c.2137A>C (p.Ile713Leu)
c.2173A>C (p.Ile725Leu)
c.2149A>C (p.Ile717Leu)
13g.108209132_108209134delinsTTACA2117794057LIG4c.1934_1936delinsTAA (p.Ile645=)
c.2135_2137delinsTAA (p.Ile712=)
c.2171_2173delinsTAA (p.Ile724=)
c.2147_2149delinsTAA (p.Ile716=)
13g.108209133T>ACA484975287LIG4c.1935A>T (p.Ile645=)
c.2136A>T (p.Ile712=)
c.2172A>T (p.Ile724=)
c.2148A>T (p.Ile716=)
13g.108209133T>CCA388613947LIG4c.1935A>G (p.Ile645Met)
c.2136A>G (p.Ile712Met)
c.2172A>G (p.Ile724Met)
c.2148A>G (p.Ile716Met)
 gnomAD v4
13g.108209133T>GCA484975290LIG4c.1935A>C (p.Ile645=)
c.2136A>C (p.Ile712=)
c.2172A>C (p.Ile724=)
c.2148A>C (p.Ile716=)
13g.108209134_108209135delCA484975291LIG4c.1934_1935del (p.Ile645AsnfsTer5)
c.2135_2136del (p.Ile712AsnfsTer5)
c.2171_2172del (p.Ile724AsnfsTer5)
c.2147_2148del (p.Ile716AsnfsTer5)
 ClinVar dbSNP gnomAD v4
13g.108209134A>CCA388613950LIG4c.1934T>G (p.Ile645Arg)
c.2135T>G (p.Ile712Arg)
c.2171T>G (p.Ile724Arg)
c.2147T>G (p.Ile716Arg)
13g.108209134A>GCA388613948LIG4c.1934T>C (p.Ile645Thr)
c.2135T>C (p.Ile712Thr)
c.2171T>C (p.Ile724Thr)
c.2147T>C (p.Ile716Thr)
 gnomAD v4
13g.108209134A>TCA388613949LIG4c.1934T>A (p.Ile645Lys)
c.2135T>A (p.Ile712Lys)
c.2171T>A (p.Ile724Lys)
c.2147T>A (p.Ile716Lys)
13g.108209135T>ACA388613951LIG4c.1933A>T (p.Ile645Leu)
c.2134A>T (p.Ile712Leu)
c.2170A>T (p.Ile724Leu)
c.2146A>T (p.Ile716Leu)
13g.108209135T>CCA388613952LIG4c.1933A>G (p.Ile645Val)
c.2134A>G (p.Ile712Val)
c.2170A>G (p.Ile724Val)
c.2146A>G (p.Ile716Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209135T>GCA388613953LIG4c.1933A>C (p.Ile645Leu)
c.2134A>C (p.Ile712Leu)
c.2170A>C (p.Ile724Leu)
c.2146A>C (p.Ile716Leu)
13g.108209135T=CA2117794058LIG4c.1933A= (p.Ile645=)
c.2134A= (p.Ile712=)
c.2170A= (p.Ile724=)
c.2146A= (p.Ile716=)
13g.108209136G>ACA484975294LIG4c.1932C>T (p.Asn644=)
c.2133C>T (p.Asn711=)
c.2169C>T (p.Asn723=)
c.2145C>T (p.Asn715=)
13g.108209136G>CCA388613954LIG4c.1932C>G (p.Asn644Lys)
c.2133C>G (p.Asn711Lys)
c.2169C>G (p.Asn723Lys)
c.2145C>G (p.Asn715Lys)
 dbSNP gnomAD v2 gnomAD v4
13g.108209136G=CA2117794059LIG4c.1932C= (p.Asn644=)
c.2133C= (p.Asn711=)
c.2169C= (p.Asn723=)
c.2145C= (p.Asn715=)
13g.108209136G>TCA388613955LIG4c.1932C>A (p.Asn644Lys)
c.2133C>A (p.Asn711Lys)
c.2169C>A (p.Asn723Lys)
c.2145C>A (p.Asn715Lys)
13g.108209137T>ACA388613956LIG4c.1931A>T (p.Asn644Ile)
c.2132A>T (p.Asn711Ile)
c.2168A>T (p.Asn723Ile)
c.2144A>T (p.Asn715Ile)
13g.108209137T>CCA388613958LIG4c.1931A>G (p.Asn644Ser)
c.2132A>G (p.Asn711Ser)
c.2168A>G (p.Asn723Ser)
c.2144A>G (p.Asn715Ser)
 gnomAD v4
13g.108209137T>GCA388613957LIG4c.1931A>C (p.Asn644Thr)
c.2132A>C (p.Asn711Thr)
c.2168A>C (p.Asn723Thr)
c.2144A>C (p.Asn715Thr)
13g.108209141dupCA2575452313LIG4c.1931dup (p.Asn644LysfsTer7)
c.2132dup (p.Asn711LysfsTer7)
c.2168dup (p.Asn723LysfsTer7)
c.2144dup (p.Asn715LysfsTer7)
13g.108209138T>ACA388613959LIG4c.1930A>T (p.Asn644Tyr)
c.2131A>T (p.Asn711Tyr)
c.2167A>T (p.Asn723Tyr)
c.2143A>T (p.Asn715Tyr)
13g.108209138T>CCA388613960LIG4c.1930A>G (p.Asn644Asp)
c.2131A>G (p.Asn711Asp)
c.2167A>G (p.Asn723Asp)
c.2143A>G (p.Asn715Asp)
13g.108209138T>GCA388613961LIG4c.1930A>C (p.Asn644His)
c.2131A>C (p.Asn711His)
c.2167A>C (p.Asn723His)
c.2143A>C (p.Asn715His)
13g.108209139T>ACA388613962LIG4c.1929A>T (p.Lys643Asn)
c.2130A>T (p.Lys710Asn)
c.2166A>T (p.Lys722Asn)
c.2142A>T (p.Lys714Asn)
13g.108209139T>CCA484975299LIG4c.1929A>G (p.Lys643=)
c.2130A>G (p.Lys710=)
c.2166A>G (p.Lys722=)
c.2142A>G (p.Lys714=)
13g.108209139T>GCA388613963LIG4c.1929A>C (p.Lys643Asn)
c.2130A>C (p.Lys710Asn)
c.2166A>C (p.Lys722Asn)
c.2142A>C (p.Lys714Asn)
13g.108209140T>ACA388613964LIG4c.1928A>T (p.Lys643Ile)
c.2129A>T (p.Lys710Ile)
c.2165A>T (p.Lys722Ile)
c.2141A>T (p.Lys714Ile)
13g.108209140T>CCA388613965LIG4c.1928A>G (p.Lys643Arg)
c.2129A>G (p.Lys710Arg)
c.2165A>G (p.Lys722Arg)
c.2141A>G (p.Lys714Arg)
13g.108209140T>GCA388613966LIG4c.1928A>C (p.Lys643Thr)
c.2129A>C (p.Lys710Thr)
c.2165A>C (p.Lys722Thr)
c.2141A>C (p.Lys714Thr)
 dbSNP gnomAD v2 gnomAD v4
13g.108209140T=CA2117794060LIG4c.1928A= (p.Lys643=)
c.2129A= (p.Lys710=)
c.2165A= (p.Lys722=)
c.2141A= (p.Lys714=)
13g.108209141T>ACA388613967LIG4c.1927A>T (p.Lys643Ter)
c.2128A>T (p.Lys710Ter)
c.2164A>T (p.Lys722Ter)
c.2140A>T (p.Lys714Ter)
13g.108209141T>CCA388613968LIG4c.1927A>G (p.Lys643Glu)
c.2128A>G (p.Lys710Glu)
c.2164A>G (p.Lys722Glu)
c.2140A>G (p.Lys714Glu)
13g.108209141T>GCA388613969LIG4c.1927A>C (p.Lys643Gln)
c.2128A>C (p.Lys710Gln)
c.2164A>C (p.Lys722Gln)
c.2140A>C (p.Lys714Gln)
13g.108209142C>ACA484975302LIG4c.1926G>T (p.Val642=)
c.2127G>T (p.Val709=)
c.2163G>T (p.Val721=)
c.2139G>T (p.Val713=)
13g.108209142C=CA2117794061LIG4c.1926G= (p.Val642=)
c.2127G= (p.Val709=)
c.2163G= (p.Val721=)
c.2139G= (p.Val713=)
13g.108209142C>GCA484975304LIG4c.1926G>C (p.Val642=)
c.2127G>C (p.Val709=)
c.2163G>C (p.Val721=)
c.2139G>C (p.Val713=)
13g.108209142C>TCA484975306LIG4c.1926G>A (p.Val642=)
c.2127G>A (p.Val709=)
c.2163G>A (p.Val721=)
c.2139G>A (p.Val713=)
 dbSNP
13g.108209143A>CCA388613972LIG4c.1925T>G (p.Val642Gly)
c.2126T>G (p.Val709Gly)
c.2162T>G (p.Val721Gly)
c.2138T>G (p.Val713Gly)
13g.108209143A>GCA388613971LIG4c.1925T>C (p.Val642Ala)
c.2126T>C (p.Val709Ala)
c.2162T>C (p.Val721Ala)
c.2138T>C (p.Val713Ala)
13g.108209143A>TCA388613970LIG4c.1925T>A (p.Val642Glu)
c.2126T>A (p.Val709Glu)
c.2162T>A (p.Val721Glu)
c.2138T>A (p.Val713Glu)
13g.108209144C>ACA388613973LIG4c.1924G>T (p.Val642Leu)
c.2125G>T (p.Val709Leu)
c.2161G>T (p.Val721Leu)
c.2137G>T (p.Val713Leu)
13g.108209144C=CA2117794062LIG4c.1924G= (p.Val642=)
c.2125G= (p.Val709=)
c.2161G= (p.Val721=)
c.2137G= (p.Val713=)
13g.108209144C>GCA388613974LIG4c.1924G>C (p.Val642Leu)
c.2125G>C (p.Val709Leu)
c.2161G>C (p.Val721Leu)
c.2137G>C (p.Val713Leu)
13g.108209144C>TCA388613975LIG4c.1924G>A (p.Val642Met)
c.2125G>A (p.Val709Met)
c.2161G>A (p.Val721Met)
c.2137G>A (p.Val713Met)
 dbSNP
13g.108209145T>ACA388613976LIG4c.1923A>T (p.Arg641Ser)
c.2124A>T (p.Arg708Ser)
c.2160A>T (p.Arg720Ser)
c.2136A>T (p.Arg712Ser)
13g.108209145T>CCA484975311LIG4c.1923A>G (p.Arg641=)
c.2124A>G (p.Arg708=)
c.2160A>G (p.Arg720=)
c.2136A>G (p.Arg712=)
13g.108209145T>GCA388613977LIG4c.1923A>C (p.Arg641Ser)
c.2124A>C (p.Arg708Ser)
c.2160A>C (p.Arg720Ser)
c.2136A>C (p.Arg712Ser)
13g.108209146C>ACA388613978LIG4c.1922G>T (p.Arg641Ile)
c.2123G>T (p.Arg708Ile)
c.2159G>T (p.Arg720Ile)
c.2135G>T (p.Arg712Ile)
13g.108209146C=CA2117794063LIG4c.1922G= (p.Arg641=)
c.2123G= (p.Arg708=)
c.2159G= (p.Arg720=)
c.2135G= (p.Arg712=)
13g.108209146C>GCA388613979LIG4c.1922G>C (p.Arg641Thr)
c.2123G>C (p.Arg708Thr)
c.2159G>C (p.Arg720Thr)
c.2135G>C (p.Arg712Thr)
13g.108209146C>TCA388613980LIG4c.1922G>A (p.Arg641Lys)
c.2123G>A (p.Arg708Lys)
c.2159G>A (p.Arg720Lys)
c.2135G>A (p.Arg712Lys)
13g.108209147T>ACA388613982LIG4c.1921A>T (p.Arg641Ter)
c.2122A>T (p.Arg708Ter)
c.2158A>T (p.Arg720Ter)
c.2134A>T (p.Arg712Ter)
13g.108209147T>CCA388613981LIG4c.1921A>G (p.Arg641Gly)
c.2122A>G (p.Arg708Gly)
c.2158A>G (p.Arg720Gly)
c.2134A>G (p.Arg712Gly)
13g.108209147T>GCA484975317LIG4c.1921A>C (p.Arg641=)
c.2122A>C (p.Arg708=)
c.2158A>C (p.Arg720=)
c.2134A>C (p.Arg712=)
13g.108209147dupCA7043556LIG4c.1921dup (p.Arg641LysfsTer10)
c.2122dup (p.Arg708LysfsTer10)
c.2158dup (p.Arg720LysfsTer10)
c.2134dup (p.Arg712LysfsTer10)
 dbSNP ExAC gnomAD v2
13g.108209148G>ACA484975319LIG4c.1920C>T (p.Ile640=)
c.2121C>T (p.Ile707=)
c.2157C>T (p.Ile719=)
c.2133C>T (p.Ile711=)
13g.108209148G>CCA388613983LIG4c.1920C>G (p.Ile640Met)
c.2121C>G (p.Ile707Met)
c.2157C>G (p.Ile719Met)
c.2133C>G (p.Ile711Met)
13g.108209148G>TCA484975320LIG4c.1920C>A (p.Ile640=)
c.2121C>A (p.Ile707=)
c.2157C>A (p.Ile719=)
c.2133C>A (p.Ile711=)
13g.108209149A>CCA388613984LIG4c.1919T>G (p.Ile640Ser)
c.2120T>G (p.Ile707Ser)
c.2156T>G (p.Ile719Ser)
c.2132T>G (p.Ile711Ser)
13g.108209149A>GCA388613985LIG4c.1919T>C (p.Ile640Thr)
c.2120T>C (p.Ile707Thr)
c.2156T>C (p.Ile719Thr)
c.2132T>C (p.Ile711Thr)
13g.108209149A>TCA388613986LIG4c.1919T>A (p.Ile640Asn)
c.2120T>A (p.Ile707Asn)
c.2156T>A (p.Ile719Asn)
c.2132T>A (p.Ile711Asn)
13g.108209150T>ACA7043557LIG4c.1918A>T (p.Ile640Phe)
c.2119A>T (p.Ile707Phe)
c.2155A>T (p.Ile719Phe)
c.2131A>T (p.Ile711Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209150T>CCA388613987LIG4c.1918A>G (p.Ile640Val)
c.2119A>G (p.Ile707Val)
c.2155A>G (p.Ile719Val)
c.2131A>G (p.Ile711Val)
 gnomAD v4
13g.108209150T>GCA388613988LIG4c.1918A>C (p.Ile640Leu)
c.2119A>C (p.Ile707Leu)
c.2155A>C (p.Ile719Leu)
c.2131A>C (p.Ile711Leu)
13g.108209150T=CA2117794064LIG4c.1918A= (p.Ile640=)
c.2119A= (p.Ile707=)
c.2155A= (p.Ile719=)
c.2131A= (p.Ile711=)
13g.108209151G>ACA484975328LIG4c.1917C>T (p.Asn639=)
c.2118C>T (p.Asn706=)
c.2154C>T (p.Asn718=)
c.2130C>T (p.Asn710=)
 ClinVar
13g.108209151G>CCA388613989LIG4c.1917C>G (p.Asn639Lys)
c.2118C>G (p.Asn706Lys)
c.2154C>G (p.Asn718Lys)
c.2130C>G (p.Asn710Lys)
13g.108209151G>TCA388613990LIG4c.1917C>A (p.Asn639Lys)
c.2118C>A (p.Asn706Lys)
c.2154C>A (p.Asn718Lys)
c.2130C>A (p.Asn710Lys)
13g.108209152T>ACA388613991LIG4c.1916A>T (p.Asn639Ile)
c.2117A>T (p.Asn706Ile)
c.2153A>T (p.Asn718Ile)
c.2129A>T (p.Asn710Ile)
13g.108209152T>CCA388613992LIG4c.1916A>G (p.Asn639Ser)
c.2117A>G (p.Asn706Ser)
c.2153A>G (p.Asn718Ser)
c.2129A>G (p.Asn710Ser)
13g.108209152T>GCA388613993LIG4c.1916A>C (p.Asn639Thr)
c.2117A>C (p.Asn706Thr)
c.2153A>C (p.Asn718Thr)
c.2129A>C (p.Asn710Thr)
13g.108209153T>ACA388613994LIG4c.1915A>T (p.Asn639Tyr)
c.2116A>T (p.Asn706Tyr)
c.2152A>T (p.Asn718Tyr)
c.2128A>T (p.Asn710Tyr)
13g.108209153T>CCA388613995LIG4c.1915A>G (p.Asn639Asp)
c.2116A>G (p.Asn706Asp)
c.2152A>G (p.Asn718Asp)
c.2128A>G (p.Asn710Asp)
13g.108209153T>GCA388613996LIG4c.1915A>C (p.Asn639His)
c.2116A>C (p.Asn706His)
c.2152A>C (p.Asn718His)
c.2128A>C (p.Asn710His)
13g.108209154C>ACA388613997LIG4c.1914G>T (p.Glu638Asp)
c.2115G>T (p.Glu705Asp)
c.2151G>T (p.Glu717Asp)
c.2127G>T (p.Glu709Asp)
13g.108209154C>GCA388613998LIG4c.1914G>C (p.Glu638Asp)
c.2115G>C (p.Glu705Asp)
c.2151G>C (p.Glu717Asp)
c.2127G>C (p.Glu709Asp)
13g.108209154C>TCA484975333LIG4c.1914G>A (p.Glu638=)
c.2115G>A (p.Glu705=)
c.2151G>A (p.Glu717=)
c.2127G>A (p.Glu709=)
13g.108209155T>ACA388613999LIG4c.1913A>T (p.Glu638Val)
c.2114A>T (p.Glu705Val)
c.2150A>T (p.Glu717Val)
c.2126A>T (p.Glu709Val)
13g.108209155T>CCA388614000LIG4c.1913A>G (p.Glu638Gly)
c.2114A>G (p.Glu705Gly)
c.2150A>G (p.Glu717Gly)
c.2126A>G (p.Glu709Gly)
13g.108209155T>GCA388614001LIG4c.1913A>C (p.Glu638Ala)
c.2114A>C (p.Glu705Ala)
c.2150A>C (p.Glu717Ala)
c.2126A>C (p.Glu709Ala)
13g.108209156C>ACA388614002LIG4c.1912G>T (p.Glu638Ter)
c.2113G>T (p.Glu705Ter)
c.2149G>T (p.Glu717Ter)
c.2125G>T (p.Glu709Ter)
13g.108209156C=CA2117794065LIG4c.1912G= (p.Glu638=)
c.2113G= (p.Glu705=)
c.2149G= (p.Glu717=)
c.2125G= (p.Glu709=)
13g.108209156C>GCA388614004LIG4c.1912G>C (p.Glu638Gln)
c.2113G>C (p.Glu705Gln)
c.2149G>C (p.Glu717Gln)
c.2125G>C (p.Glu709Gln)
13g.108209156C>TCA388614003LIG4c.1912G>A (p.Glu638Lys)
c.2113G>A (p.Glu705Lys)
c.2149G>A (p.Glu717Lys)
c.2125G>A (p.Glu709Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209157A>CCA484975335LIG4c.1911T>G (p.Ser637=)
c.2112T>G (p.Ser704=)
c.2148T>G (p.Ser716=)
c.2124T>G (p.Ser708=)
13g.108209157A>GCA484975337LIG4c.1911T>C (p.Ser637=)
c.2112T>C (p.Ser704=)
c.2148T>C (p.Ser716=)
c.2124T>C (p.Ser708=)
 gnomAD v4
13g.108209157A>TCA484975338LIG4c.1911T>A (p.Ser637=)
c.2112T>A (p.Ser704=)
c.2148T>A (p.Ser716=)
c.2124T>A (p.Ser708=)

Number of alleles fetched