| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88651007G>A | CA115459 | CYBA | c.7C>T (p.Gln3Ter) n.48C>T n.25C>T n.29C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.88651007G>C | CA397067885 | CYBA | c.7C>G (p.Gln3Glu) n.48C>G n.25C>G n.29C>G | dbSNP |
| 16 | g.88651007G= | CA2241204303 | CYBA | c.7C= (p.Gln3=) n.48C= n.25C= n.29C= | dbSNP |
| 16 | g.88651007G>T | CA397067884 | CYBA | c.7C>A (p.Gln3Lys) n.48C>A n.25C>A n.29C>A | dbSNP gnomAD v4 |