Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112828889C>T | CA005424 | APC | c.1409-6062C>T (n.1409-6062C>T) c.1714C>T (p.Arg572Ter) n.1716C>T c.*1666C>T (n.*1666C>T) c.1606C>T (p.Arg536Ter) c.1660C>T (p.Arg554Ter) c.97-6062C>T c.349C>T (p.Arg117Ter) n.147C>T c.*982C>T (n.*982C>T) c.147C>T c.1690C>T (p.Arg564Ter) c.1585C>T (p.Arg529Ter) c.1576C>T (p.Arg526Ter) c.1537C>T (p.Arg513Ter) c.1483C>T (p.Arg495Ter) c.1387C>T (p.Arg463Ter) c.1357C>T (p.Arg453Ter) c.1282C>T (p.Arg428Ter) c.1180C>T (p.Arg394Ter) c.811C>T (p.Arg271Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.112828889C>G | CA16024936 | APC | c.1409-6062C>G (n.1409-6062C>G) c.1714C>G (p.Arg572Gly) n.1716C>G c.*1666C>G (n.*1666C>G) c.1606C>G (p.Arg536Gly) c.1660C>G (p.Arg554Gly) c.97-6062C>G c.349C>G (p.Arg117Gly) n.147C>G c.*982C>G (n.*982C>G) c.147C>G c.1690C>G (p.Arg564Gly) c.1585C>G (p.Arg529Gly) c.1576C>G (p.Arg526Gly) c.1537C>G (p.Arg513Gly) c.1483C>G (p.Arg495Gly) c.1387C>G (p.Arg463Gly) c.1357C>G (p.Arg453Gly) c.1282C>G (p.Arg428Gly) c.1180C>G (p.Arg394Gly) c.811C>G (p.Arg271Gly) | dbSNP |