Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108211050_108211072delCA2623644564LIG4c.-1_22del
c.201_223del (p.Met68ArgfsTer10)
c.237_259del (p.Met80ArgfsTer10)
c.213_235del (p.Met72ArgfsTer10)
gnomAD v4
13g.108211057A=CA2117794852LIG4c.11T= (p.Ile4=)
c.212T= (p.Ile71=)
c.248T= (p.Ile83=)
c.224T= (p.Ile75=)
13g.108211057A>CCA388624008LIG4c.11T>G (p.Ile4Ser)
c.212T>G (p.Ile71Ser)
c.248T>G (p.Ile83Ser)
c.224T>G (p.Ile75Ser)
13g.108211057A>GCA388624010LIG4c.11T>C (p.Ile4Thr)
c.212T>C (p.Ile71Thr)
c.248T>C (p.Ile83Thr)
c.224T>C (p.Ile75Thr)
dbSNP gnomAD v3 gnomAD v4
13g.108211057A>TCA388624012LIG4c.11T>A (p.Ile4Asn)
c.212T>A (p.Ile71Asn)
c.248T>A (p.Ile83Asn)
c.224T>A (p.Ile75Asn)
13g.108211058T>ACA388624014LIG4c.10A>T (p.Ile4Phe)
c.211A>T (p.Ile71Phe)
c.247A>T (p.Ile83Phe)
c.223A>T (p.Ile75Phe)
gnomAD v4
13g.108211058T>CCA388624016LIG4c.10A>G (p.Ile4Val)
c.211A>G (p.Ile71Val)
c.247A>G (p.Ile83Val)
c.223A>G (p.Ile75Val)
gnomAD v4
13g.108211058T>GCA388624018LIG4c.10A>C (p.Ile4Leu)
c.211A>C (p.Ile71Leu)
c.247A>C (p.Ile83Leu)
c.223A>C (p.Ile75Leu)
13g.108211059T>ACA484976209LIG4c.9A>T (p.Leu3=)
c.210A>T (p.Leu70=)
c.246A>T (p.Leu82=)
c.222A>T (p.Leu74=)
13g.108211059T>CCA484976211LIG4c.9A>G (p.Leu3=)
c.210A>G (p.Leu70=)
c.246A>G (p.Leu82=)
c.222A>G (p.Leu74=)
13g.108211059T>GCA484976210LIG4c.9A>C (p.Leu3=)
c.210A>C (p.Leu70=)
c.246A>C (p.Leu82=)
c.222A>C (p.Leu74=)
13g.108211060A>CCA388624023LIG4c.8T>G (p.Leu3Arg)
c.209T>G (p.Leu70Arg)
c.245T>G (p.Leu82Arg)
c.221T>G (p.Leu74Arg)
13g.108211060A>GCA388624022LIG4c.8T>C (p.Leu3Pro)
c.209T>C (p.Leu70Pro)
c.245T>C (p.Leu82Pro)
c.221T>C (p.Leu74Pro)
ClinVar dbSNP
13g.108211060A>TCA388624020LIG4c.8T>A (p.Leu3Gln)
c.209T>A (p.Leu70Gln)
c.245T>A (p.Leu82Gln)
c.221T>A (p.Leu74Gln)
13g.108211061G>ACA256182867LIG4c.7C>T (p.Leu3=)
c.208C>T (p.Leu70=)
c.244C>T (p.Leu82=)
c.220C>T (p.Leu74=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108211061G>CCA7043871LIG4c.7C>G (p.Leu3Val)
c.208C>G (p.Leu70Val)
c.244C>G (p.Leu82Val)
c.220C>G (p.Leu74Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108211061G=CA2117794853LIG4c.7C= (p.Leu3=)
c.208C= (p.Leu70=)
c.244C= (p.Leu82=)
c.220C= (p.Leu74=)
13g.108211061G>TCA388624028LIG4c.7C>A (p.Leu3Ile)
c.208C>A (p.Leu70Ile)
c.244C>A (p.Leu82Ile)
c.220C>A (p.Leu74Ile)
13g.108211062T>ACA388624030LIG4c.6A>T (p.Arg2Ser)
c.207A>T (p.Arg69Ser)
c.243A>T (p.Arg81Ser)
c.219A>T (p.Arg73Ser)
dbSNP gnomAD v2
13g.108211062T>CCA484976215LIG4c.6A>G (p.Arg2=)
c.207A>G (p.Arg69=)
c.243A>G (p.Arg81=)
c.219A>G (p.Arg73=)
gnomAD v4
13g.108211062T>GCA388624031LIG4c.6A>C (p.Arg2Ser)
c.207A>C (p.Arg69Ser)
c.243A>C (p.Arg81Ser)
c.219A>C (p.Arg73Ser)
13g.108211062T=CA2117794854LIG4c.6A= (p.Arg2=)
c.207A= (p.Arg69=)
c.243A= (p.Arg81=)
c.219A= (p.Arg73=)
13g.108211063C>ACA388624033LIG4c.5G>T (p.Arg2Ile)
c.206G>T (p.Arg69Ile)
c.242G>T (p.Arg81Ile)
c.218G>T (p.Arg73Ile)
13g.108211063C>GCA388624035LIG4c.5G>C (p.Arg2Thr)
c.206G>C (p.Arg69Thr)
c.242G>C (p.Arg81Thr)
c.218G>C (p.Arg73Thr)
13g.108211063C>TCA388624037LIG4c.5G>A (p.Arg2Lys)
c.206G>A (p.Arg69Lys)
c.242G>A (p.Arg81Lys)
c.218G>A (p.Arg73Lys)
13g.108211064T>ACA388624039LIG4c.4A>T (p.Arg2Ter)
c.205A>T (p.Arg69Ter)
c.241A>T (p.Arg81Ter)
c.217A>T (p.Arg73Ter)
13g.108211064T>CCA388624042LIG4c.4A>G (p.Arg2Gly)
c.205A>G (p.Arg69Gly)
c.241A>G (p.Arg81Gly)
c.217A>G (p.Arg73Gly)
13g.108211064T>GCA484976219LIG4c.4A>C (p.Arg2=)
c.205A>C (p.Arg69=)
c.241A>C (p.Arg81=)
c.217A>C (p.Arg73=)
13g.108211065C>ACA388624044LIG4c.3G>T (p.Met1Ile)
c.204G>T (p.Met68Ile)
c.240G>T (p.Met80Ile)
c.216G>T (p.Met72Ile)
13g.108211065C=CA2117794855LIG4c.3G= (p.Met1=)
c.204G= (p.Met68=)
c.240G= (p.Met80=)
c.216G= (p.Met72=)
13g.108211065C>GCA388624046LIG4c.3G>C (p.Met1Ile)
c.204G>C (p.Met68Ile)
c.240G>C (p.Met80Ile)
c.216G>C (p.Met72Ile)
13g.108211065C>TCA388624048LIG4c.3G>A (p.Met1Ile)
c.204G>A (p.Met68Ile)
c.240G>A (p.Met80Ile)
c.216G>A (p.Met72Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.108211066A>CCA388624052LIG4c.2T>G (p.Met1Arg)
c.203T>G (p.Met68Arg)
c.239T>G (p.Met80Arg)
c.215T>G (p.Met72Arg)
gnomAD v4
13g.108211066A>GCA388624054LIG4c.2T>C (p.Met1Thr)
c.203T>C (p.Met68Thr)
c.239T>C (p.Met80Thr)
c.215T>C (p.Met72Thr)
13g.108211066A>TCA388624050LIG4c.2T>A (p.Met1Lys)
c.203T>A (p.Met68Lys)
c.239T>A (p.Met80Lys)
c.215T>A (p.Met72Lys)
13g.108211067T>ACA388624056LIG4c.1A>T (p.Met1Leu)
c.202A>T (p.Met68Leu)
c.238A>T (p.Met80Leu)
c.214A>T (p.Met72Leu)
13g.108211067T>CCA388624059LIG4c.1A>G (p.Met1Val)
c.202A>G (p.Met68Val)
c.238A>G (p.Met80Val)
c.214A>G (p.Met72Val)
dbSNP gnomAD v2 gnomAD v4
13g.108211067T>GCA388624058LIG4c.1A>C (p.Met1Leu)
c.202A>C (p.Met68Leu)
c.238A>C (p.Met80Leu)
c.214A>C (p.Met72Leu)
13g.108211067T=CA2117794856LIG4c.1A= (p.Met1=)
c.202A= (p.Met68=)
c.238A= (p.Met80=)
c.214A= (p.Met72=)
13g.108211068T>ACA484976223LIG4c.-1A>T (n.-1A>T)
c.201A>T (p.Ala67=)
c.237A>T (p.Ala79=)
c.213A>T (p.Ala71=)
13g.108211068T>CCA484976224LIG4c.-1A>G (n.-1A>G)
c.201A>G (p.Ala67=)
c.237A>G (p.Ala79=)
c.213A>G (p.Ala71=)
gnomAD v4
13g.108211068T>GCA484976225LIG4c.-1A>C (n.-1A>C)
c.201A>C (p.Ala67=)
c.237A>C (p.Ala79=)
c.213A>C (p.Ala71=)
13g.108211069G>ACA388624061LIG4c.-2C>T (n.-2C>T)
c.200C>T (p.Ala67Val)
c.236C>T (p.Ala79Val)
c.212C>T (p.Ala71Val)
13g.108211069G>CCA388624063LIG4c.-2C>G (n.-2C>G)
c.200C>G (p.Ala67Gly)
c.236C>G (p.Ala79Gly)
c.212C>G (p.Ala71Gly)
13g.108211069G=CA2117794857LIG4c.-2C= (n.-2C=)
c.200C= (p.Ala67=)
c.236C= (p.Ala79=)
c.212C= (p.Ala71=)
13g.108211069G>TCA388624065LIG4c.-2C>A (n.-2C>A)
c.200C>A (p.Ala67Glu)
c.236C>A (p.Ala79Glu)
c.212C>A (p.Ala71Glu)
dbSNP
13g.108211070C>ACA388624067LIG4c.-3G>T (n.-3G>T)
c.199G>T (p.Ala67Ser)
c.235G>T (p.Ala79Ser)
c.211G>T (p.Ala71Ser)
dbSNP gnomAD v3 gnomAD v4
13g.108211070C=CA2117794858LIG4c.-3G= (n.-3G=)
c.199G= (p.Ala67=)
c.235G= (p.Ala79=)
c.211G= (p.Ala71=)
13g.108211070C>GCA388624068LIG4c.-3G>C (n.-3G>C)
c.199G>C (p.Ala67Pro)
c.235G>C (p.Ala79Pro)
c.211G>C (p.Ala71Pro)
13g.108211070C>TCA388624070LIG4c.-3G>A (n.-3G>A)
c.199G>A (p.Ala67Thr)
c.235G>A (p.Ala79Thr)
c.211G>A (p.Ala71Thr)

Number of alleles fetched