| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27202872A>T | CA464263567 | TEK | c.1962A>T (p.Ser654=) c.1833A>T (p.Ser611=) c.1392A>T (p.Ser464=) c.1521A>T (p.Ser507=) c.*463A>T (n.*463A>T) | dbSNP |
| 9 | g.27202872A>G | CA5016381 | TEK | c.1962A>G (p.Ser654=) c.1833A>G (p.Ser611=) c.1392A>G (p.Ser464=) c.1521A>G (p.Ser507=) c.*463A>G (n.*463A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |