| 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 |
| 9 | g.27212710A= | CA1842008650 | TEK | c.2690A= (p.Tyr897=) c.2561A= (p.Tyr854=) c.2246A= (p.Tyr749=) c.*1191A= (n.*1191A=) c.2687A= (p.Tyr896=) c.2558A= (p.Tyr853=) | dbSNP |