| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44381058A>C | CA8603189 | ITGA2B | c.1214T>G (p.Ile405Ser) c.645T>G n.454T>G n.9T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44381058A>G | CA290950815 | ITGA2B | c.1214T>C (p.Ile405Thr) c.645T>C n.454T>C n.9T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.44381058A= | CA2261368418 | ITGA2B | c.1214T= (p.Ile405=) c.645T= n.454T= n.9T= | dbSNP |