| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48792346G>C | CA345942 | GATA1 | c.373G>C (p.Gly125Arg) c.622G>C (p.Gly208Arg) | ClinVar dbSNP |
| X | g.48792346G>A | CA16043250 | GATA1 | c.373G>A (p.Gly125Arg) c.622G>A (p.Gly208Arg) | ClinVar dbSNP |
| X | g.48792346G= | CA2428390646 | GATA1 | c.373G= (p.Gly125=) c.622G= (p.Gly208=) | dbSNP |