Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.74551108G>C | CA263606214 | LTBP2 | c.1642C>G (p.Arg548Gly) n.366C>G c.1183C>G (p.Arg395Gly) c.1159C>G (p.Arg387Gly) | ClinVar dbSNP gnomAD v4 |
14 | g.74551108G>A | CA286515 | LTBP2 | c.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 |