| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27206762C>T | CA340900 | TEK | c.2545C>T (p.Arg849Trp) c.2416C>T (p.Arg806Trp) c.2101C>T (p.Arg701Trp) c.*1046C>T (n.*1046C>T) c.2542C>T (p.Arg848Trp) c.2413C>T (p.Arg805Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.27206762C= | CA1842005384 | TEK | c.2545C= (p.Arg849=) c.2416C= (p.Arg806=) c.2101C= (p.Arg701=) c.*1046C= (n.*1046C=) c.2542C= (p.Arg848=) c.2413C= (p.Arg805=) | dbSNP |