Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177283790C>G | CA362316110 | NSD1 | c.5140C>G (p.Arg1714Gly) c.655C>G (p.Arg219Gly) n.5596C>G c.5704C>G (p.Arg1902Gly) n.5410C>G n.6160C>G n.4562C>G c.6013C>G (p.Arg2005Gly) c.5206C>G (p.Arg1736Gly) c.1507C>G (p.Arg503Gly) c.5593C>G (p.Arg1865Gly) c.4957C>G (p.Arg1653Gly) c.1747C>G (p.Arg583Gly) | ClinVar dbSNP |
5 | g.177283790C>T | CA295021 | NSD1 | c.5140C>T (p.Arg1714Ter) c.655C>T (p.Arg219Ter) n.5596C>T c.5704C>T (p.Arg1902Ter) n.5410C>T n.6160C>T n.4562C>T c.6013C>T (p.Arg2005Ter) c.5206C>T (p.Arg1736Ter) c.1507C>T (p.Arg503Ter) c.5593C>T (p.Arg1865Ter) c.4957C>T (p.Arg1653Ter) c.1747C>T (p.Arg583Ter) | ClinVar dbSNP COSMIC COSMIC |