| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44380004G>T | CA500623895 | ITGA2B | c.1750C>A (p.Arg584=) c.1181C>A n.545C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44380004G>A | CA115834 | ITGA2B | c.1750C>T (p.Arg584Ter) c.1181C>T n.545C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44380004G>C | CA399802079 | ITGA2B | c.1750C>G (p.Arg584Gly) c.1181C>G n.545C>G | dbSNP gnomAD v3 gnomAD v4 |