Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.47106062G>C | CA352514874 | SETD2 | c.4642C>G (p.Arg1548Gly) c.4675C>G (p.Arg1559Gly) c.2654C>G c.2715C>G c.1731+7814C>G c.1790C>G c.2938C>G (p.Arg980Gly) c.72-7981C>G (n.72-7981C>G) n.579C>G c.4774C>G (p.Arg1592Gly) c.424C>G (p.Arg142Gly) c.4660-2639C>G c.3868-2639C>G c.3674C>G c.4852C>G (p.Arg1618Gly) c.4798C>G (p.Arg1600Gly) n.4867C>G n.4955C>G n.4827C>G c.4583+7814C>G (n.4583+7814C>G) n.4768+7814C>G n.4703C>G n.4963C>G | dbSNP |
3 | g.47106062G>A | CA16042507 | SETD2 | c.4642C>T (p.Arg1548Ter) c.4675C>T (p.Arg1559Ter) c.2654C>T c.2715C>T c.1731+7814C>T c.1790C>T c.2938C>T (p.Arg980Ter) c.72-7981C>T (n.72-7981C>T) n.579C>T c.4774C>T (p.Arg1592Ter) c.424C>T (p.Arg142Ter) c.4660-2639C>T c.3868-2639C>T c.3674C>T c.4852C>T (p.Arg1618Ter) c.4798C>T (p.Arg1600Ter) n.4867C>T n.4955C>T n.4827C>T c.4583+7814C>T (n.4583+7814C>T) n.4768+7814C>T n.4703C>T n.4963C>T | ClinVar dbSNP COSMIC COSMIC |
3 | g.47106062G>T | CA433479596 | SETD2 | c.4642C>A (p.Arg1548=) c.4675C>A (p.Arg1559=) c.2654C>A c.2715C>A c.1731+7814C>A c.1790C>A c.2938C>A (p.Arg980=) c.72-7981C>A (n.72-7981C>A) n.579C>A c.4774C>A (p.Arg1592=) c.424C>A (p.Arg142=) c.4660-2639C>A c.3868-2639C>A c.3674C>A c.4852C>A (p.Arg1618=) c.4798C>A (p.Arg1600=) n.4867C>A n.4955C>A n.4827C>A c.4583+7814C>A (n.4583+7814C>A) n.4768+7814C>A n.4703C>A n.4963C>A | dbSNP |