| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27168578G>A | CA5015919 | TEK | c.448G>A (p.Glu150Lys) c.53-917G>A (n.53-917G>A) c.136G>A (p.Glu46Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27168578G>T | CA16043930 | TEK | c.448G>T (p.Glu150Ter) c.53-917G>T (n.53-917G>T) c.136G>T (p.Glu46Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |