| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75750992G>A | CA257310 | ITGB4 | c.3674G>A (p.Arg1225His) c.266-6634G>A (n.266-6634G>A) c.3779G>A (p.Arg1260His) c.1619G>A (p.Arg540His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75750992G>T | CA401076664 | ITGB4 | c.3674G>T (p.Arg1225Leu) c.266-6634G>T (n.266-6634G>T) c.3779G>T (p.Arg1260Leu) c.1619G>T (p.Arg540Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |