| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48684407G>C | CA412866623 | WAS | n.290G>C c.257G>C (p.Arg86Pro) n.292G>C n.283G>C | ClinVar dbSNP |
| X | g.48684407G>A | CA341003 | WAS | n.290G>A c.257G>A (p.Arg86His) n.292G>A n.283G>A | ClinVar dbSNP gnomAD v4 |
| X | g.48684407G>T | CA341001 | WAS | n.290G>T c.257G>T (p.Arg86Leu) n.292G>T n.283G>T | ClinVar dbSNP |