Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49482848G>ACA274698ERCC6c.2008C>T (p.Arg670Trp)
n.2086C>T
c.1849C>T (p.Arg617Trp)
c.*400C>T (n.*400C>T)
c.118C>T (p.Arg40Trp)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49482848G=CA1908760559ERCC6c.2008C= (p.Arg670=)
n.2086C=
c.1849C= (p.Arg617=)
c.*400C= (n.*400C=)
c.118C= (p.Arg40=)
dbSNP

Number of alleles fetched