| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49251440C>T | CA16608510 | FOXP3 | c.1085G>A (p.Arg362Gln) c.1190G>A (p.Arg397Gln) c.1259G>A (p.Arg420Gln) c.1109G>A (p.Arg370Gln) c.1265G>A (p.Arg422Gln) c.*105G>A (n.*105G>A) c.1220G>A (p.Arg407Gln) c.1589G>A (p.Arg530Gln) c.1208G>A (p.Arg403Gln) c.1445G>A (p.Arg482Gln) c.1409G>A (p.Arg470Gln) c.1316G>A (p.Arg439Gln) | ClinVar dbSNP gnomAD v4 |
| X | g.49251440C>A | CA412947564 | FOXP3 | c.1085G>T (p.Arg362Leu) c.1190G>T (p.Arg397Leu) c.1259G>T (p.Arg420Leu) c.1109G>T (p.Arg370Leu) c.1265G>T (p.Arg422Leu) c.*105G>T (n.*105G>T) c.1220G>T (p.Arg407Leu) c.1589G>T (p.Arg530Leu) c.1208G>T (p.Arg403Leu) c.1445G>T (p.Arg482Leu) c.1409G>T (p.Arg470Leu) c.1316G>T (p.Arg439Leu) | dbSNP |