| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44383640C>T | CA115844 | ITGA2B | c.1063G>A (p.Glu355Lys) c.494G>A n.303G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.44383640C>G | CA399804548 | ITGA2B | c.1063G>C (p.Glu355Gln) c.494G>C n.303G>C | dbSNP gnomAD v4 |
| 17 | g.44383640C= | CA2261369558 | ITGA2B | c.1063G= (p.Glu355=) c.494G= n.303G= | dbSNP |