| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44380626G>A | CA8603102 | ITGA2B | c.1413C>T (p.Tyr471=) c.844C>T n.886C>T n.208C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.44380626G>C | CA290950376 | ITGA2B | c.1413C>G (p.Tyr471Ter) c.844C>G n.886C>G n.208C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |