| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44379780A>T | CA399801894 | ITGA2B | c.1787T>A (p.Ile596Asn) c.1218T>A n.582T>A | dbSNP |
| 17 | g.44379780A>G | CA115846 | ITGA2B | c.1787T>C (p.Ile596Thr) c.1218T>C n.582T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44379780A= | CA2261367801 | ITGA2B | c.1787T= (p.Ile596=) c.1218T= n.582T= | dbSNP |