| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88646131G>T | CA115450 | CYBA | c.354C>A (p.Ser118Arg) c.270C>A (p.Ser90Arg) c.484C>A (p.Arg162=) c.303C>A (p.Ser101Arg) n.886C>A c.138C>A c.343C>A (p.Arg115=) n.933C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88646131G>A | CA8228256 | CYBA | c.354C>T (p.Ser118=) c.270C>T (p.Ser90=) c.484C>T (p.Arg162Trp) c.303C>T (p.Ser101=) n.886C>T c.138C>T c.343C>T (p.Arg115Trp) n.933C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |