| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88646773C>A | CA397064306 | CYBA | c.269G>T (p.Arg90Leu) c.203+328G>T (n.203+328G>T) c.399G>T (p.Ser133=) c.218G>T (p.Arg73Leu) n.549G>T n.244G>T c.53G>T c.258G>T (p.Ser86=) n.291G>T | dbSNP |
| 16 | g.88646773C>T | CA115448 | CYBA | c.269G>A (p.Arg90Gln) c.203+328G>A (n.203+328G>A) c.399G>A (p.Ser133=) c.218G>A (p.Arg73Gln) n.549G>A n.244G>A c.53G>A c.258G>A (p.Ser86=) n.291G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |