Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.66481793G>T | CA392936200 | MAP2K1 | c.541G>T (p.Glu181Ter) c.607G>T (p.Glu203Ter) c.460G>T (p.Glu154Ter) c.569-5435G>T (n.569-5435G>T) n.965G>T c.658G>T (p.Glu220Ter) c.569-3201G>T (n.569-3201G>T) c.463G>T (p.Glu155Ter) c.79G>T (p.Glu27Ter) c.529G>T (p.Glu177Ter) | dbSNP |
15 | g.66481793G>C | CA392936198 | MAP2K1 | c.541G>C (p.Glu181Gln) c.607G>C (p.Glu203Gln) c.460G>C (p.Glu154Gln) c.569-5435G>C (n.569-5435G>C) n.965G>C c.658G>C (p.Glu220Gln) c.569-3201G>C (n.569-3201G>C) c.463G>C (p.Glu155Gln) c.79G>C (p.Glu27Gln) c.529G>C (p.Glu177Gln) | ClinVar dbSNP |
15 | g.66481793G>A | CA16602457 | MAP2K1 | c.541G>A (p.Glu181Lys) c.607G>A (p.Glu203Lys) c.460G>A (p.Glu154Lys) c.569-5435G>A (n.569-5435G>A) n.965G>A c.658G>A (p.Glu220Lys) c.569-3201G>A (n.569-3201G>A) c.463G>A (p.Glu155Lys) c.79G>A (p.Glu27Lys) c.529G>A (p.Glu177Lys) | ClinVar dbSNP COSMIC |