| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27212710A>G | CA259741 | TEK | c.2690A>G (p.Tyr897Cys) c.2561A>G (p.Tyr854Cys) c.2246A>G (p.Tyr749Cys) c.*1191A>G (n.*1191A>G) c.2687A>G (p.Tyr896Cys) c.2558A>G (p.Tyr853Cys) | ClinVar dbSNP |
| 9 | g.27212710A>C | CA340902 | TEK | c.2690A>C (p.Tyr897Ser) c.2561A>C (p.Tyr854Ser) c.2246A>C (p.Tyr749Ser) c.*1191A>C (n.*1191A>C) c.2687A>C (p.Tyr896Ser) c.2558A>C (p.Tyr853Ser) | ClinVar dbSNP |