| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27183465A>C | CA5016113 | TEK | c.1037A>C (p.Gln346Pro) c.908A>C (p.Gln303Pro) c.467A>C (p.Gln156Pro) c.596A>C (p.Gln199Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27183465A>T | CA5016114 | TEK | c.1037A>T (p.Gln346Leu) c.908A>T (p.Gln303Leu) c.467A>T (p.Gln156Leu) c.596A>T (p.Gln199Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27183465A>G | CA373129747 | TEK | c.1037A>G (p.Gln346Arg) c.908A>G (p.Gln303Arg) c.467A>G (p.Gln156Arg) c.596A>G (p.Gln199Arg) | dbSNP gnomAD v4 |
| 9 | g.27183465A= | CA1842031089 | TEK | c.1037A= (p.Gln346=) c.908A= (p.Gln303=) c.467A= (p.Gln156=) c.596A= (p.Gln199=) | dbSNP |