Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74551108G>CCA263606214LTBP2c.1642C>G (p.Arg548Gly)
n.366C>G
c.1183C>G (p.Arg395Gly)
c.1159C>G (p.Arg387Gly)
ClinVar dbSNP gnomAD v4
14g.74551108G>ACA286515LTBP2c.1642C>T (p.Arg548Ter)
n.366C>T
c.1183C>T (p.Arg395Ter)
c.1159C>T (p.Arg387Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched