| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49257483G>A | CA10411813 | FOXP3 | c.293C>T (p.Pro98Leu) c.398C>T (p.Pro133Leu) c.251C>T (p.Pro84Leu) c.248C>T (p.Pro83Leu) c.617C>T (p.Pro206Leu) c.416C>T (p.Pro139Leu) c.653C>T (p.Pro218Leu) c.344C>T (p.Pro115Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.49257483G= | CA2428553325 | FOXP3 | c.293C= (p.Pro98=) c.398C= (p.Pro133=) c.251C= (p.Pro84=) c.248C= (p.Pro83=) c.617C= (p.Pro206=) c.416C= (p.Pro139=) c.653C= (p.Pro218=) c.344C= (p.Pro115=) | dbSNP |