| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48791329G>A | CA412867311 | GATA1 | c.-29-515G>A (n.-29-515G>A) c.220G>A (p.Val74Ile) | ClinVar dbSNP COSMIC |
| X | g.48791329G>C | CA345938 | GATA1 | c.-29-515G>C (n.-29-515G>C) c.220G>C (p.Val74Leu) | ClinVar dbSNP |
| X | g.48791329G= | CA2428390294 | GATA1 | c.-29-515G= (n.-29-515G=) c.220G= (p.Val74=) | dbSNP |