Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.13947991C>TCA126686ERCC4c.2533C>T (p.Arg845Trp)
c.*2089C>T (n.*2089C>T)
c.2395C>T (p.Arg799Trp)
n.1672C>T
c.708C>T (n.708C>T)
c.1852C>T (p.Arg618Trp)
c.1606C>T (p.Arg536Trp)
c.1045C>T (p.Arg349Trp)
n.2554C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.13947991C>GCA394823414ERCC4c.2533C>G (p.Arg845Gly)
c.*2089C>G (n.*2089C>G)
c.2395C>G (p.Arg799Gly)
n.1672C>G
c.708C>G (n.708C>G)
c.1852C>G (p.Arg618Gly)
c.1606C>G (p.Arg536Gly)
c.1045C>G (p.Arg349Gly)
n.2554C>G
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched