Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.118503036C>G | CA382804469 | KMT2A | c.7243C>G (p.Arg2415Gly) c.7234C>G (p.Arg2412Gly) c.1183C>G (p.Arg395Gly) c.1441C>G (p.Arg481Gly) c.7216C>G (p.Arg2406Gly) c.7135C>G (p.Arg2379Gly) n.6486C>G c.7144C>G (p.Arg2382Gly) c.7021C>G (p.Arg2341Gly) n.1271C>G c.4627C>G (p.Arg1543Gly) c.7240C>G (p.Arg2414Gly) c.5050C>G (p.Arg1684Gly) c.4726C>G (p.Arg1576Gly) | dbSNP gnomAD v4 |
11 | g.118503036C>T | CA130070 | KMT2A | c.7243C>T (p.Arg2415Ter) c.7234C>T (p.Arg2412Ter) c.1183C>T (p.Arg395Ter) c.1441C>T (p.Arg481Ter) c.7216C>T (p.Arg2406Ter) c.7135C>T (p.Arg2379Ter) n.6486C>T c.7144C>T (p.Arg2382Ter) c.7021C>T (p.Arg2341Ter) n.1271C>T c.4627C>T (p.Arg1543Ter) c.7240C>T (p.Arg2414Ter) c.5050C>T (p.Arg1684Ter) c.4726C>T (p.Arg1576Ter) | ClinVar dbSNP COSMIC COSMIC |