| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48792376G>A | CA412870656 | GATA1 | c.403G>A (p.Asp135Asn) c.652G>A (p.Asp218Asn) | ClinVar dbSNP |
| X | g.48792376G>T | CA121069 | GATA1 | c.403G>T (p.Asp135Tyr) c.652G>T (p.Asp218Tyr) | ClinVar dbSNP |
| X | g.48792376G= | CA2428390655 | GATA1 | c.403G= (p.Asp135=) c.652G= (p.Asp218=) | dbSNP |