| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27212764G>A | CA259743 | TEK | c.2744G>A (p.Arg915His) c.2615G>A (p.Arg872His) c.2300G>A (p.Arg767His) c.*1245G>A (n.*1245G>A) c.2741G>A (p.Arg914His) c.2612G>A (p.Arg871His) | ClinVar dbSNP gnomAD v4 |
| 9 | g.27212764G= | CA1842008668 | TEK | c.2744G= (p.Arg915=) c.2615G= (p.Arg872=) c.2300G= (p.Arg767=) c.*1245G= (n.*1245G=) c.2741G= (p.Arg914=) c.2612G= (p.Arg871=) | dbSNP |