Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.34859486G>C | CA410207957 | RUNX1 | c.601C>G (p.Arg201Gly) c.520C>G (p.Arg174Gly) c.565C>G (p.Arg189Gly) n.93C>G c.*191C>G (n.*191C>G) c.562C>G (p.Arg188Gly) n.780C>G c.448C>G (p.Arg150Gly) n.827C>G | dbSNP COSMIC |
21 | g.34859486G>A | CA16602487 | RUNX1 | c.601C>T (p.Arg201Ter) c.520C>T (p.Arg174Ter) c.565C>T (p.Arg189Ter) n.93C>T c.*191C>T (n.*191C>T) c.562C>T (p.Arg188Ter) n.780C>T c.448C>T (p.Arg150Ter) n.827C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
21 | g.34859486G>T | CA512319069 | RUNX1 | c.601C>A (p.Arg201=) c.520C>A (p.Arg174=) c.565C>A (p.Arg189=) n.93C>A c.*191C>A (n.*191C>A) c.562C>A (p.Arg188=) n.780C>A c.448C>A (p.Arg150=) n.827C>A | dbSNP |