Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.116783360A>G | CA257003 | MET | c.*1294A>G (n.*1294A>G) c.3743A>G (p.Tyr1248Cys) c.3689A>G (p.Tyr1230Cys) c.2399A>G (p.Tyr800Cys) c.3746A>G (p.Tyr1249Cys) n.3820A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.116783360A>T | CA368991598 | MET | c.*1294A>T (n.*1294A>T) c.3743A>T (p.Tyr1248Phe) c.3689A>T (p.Tyr1230Phe) c.2399A>T (p.Tyr800Phe) c.3746A>T (p.Tyr1249Phe) n.3820A>T | dbSNP |