| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27180259C>A | CA16043929 | TEK | c.921C>A (p.Tyr307Ter) c.902-3200C>A (n.902-3200C>A) c.461-3200C>A (n.461-3200C>A) c.590-3200C>A (n.590-3200C>A) | ClinVar dbSNP |
| 9 | g.27180259C>T | CA5016068 | TEK | c.921C>T (p.Tyr307=) c.902-3200C>T (n.902-3200C>T) c.461-3200C>T (n.461-3200C>T) c.590-3200C>T (n.590-3200C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |