| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49256801G>A | CA10411776 | FOXP3 | c.492C>T (p.Cys164=) c.597C>T (p.Cys199=) c.666C>T (p.Cys222=) c.450C>T (p.Cys150=) c.447C>T (p.Cys149=) c.816C>T (p.Cys272=) c.615C>T (p.Cys205=) c.852C>T (p.Cys284=) c.543C>T (p.Cys181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.49256801G>T | CA16621430 | FOXP3 | c.492C>A (p.Cys164Ter) c.597C>A (p.Cys199Ter) c.666C>A (p.Cys222Ter) c.450C>A (p.Cys150Ter) c.447C>A (p.Cys149Ter) c.816C>A (p.Cys272Ter) c.615C>A (p.Cys205Ter) c.852C>A (p.Cys284Ter) c.543C>A (p.Cys181Ter) | ClinVar dbSNP |