| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49251441G>A | CA255855 | FOXP3 | c.1084C>T (p.Arg362Trp) c.1189C>T (p.Arg397Trp) c.1258C>T (p.Arg420Trp) c.1108C>T (p.Arg370Trp) c.1264C>T (p.Arg422Trp) c.*104C>T (n.*104C>T) c.1219C>T (p.Arg407Trp) c.1588C>T (p.Arg530Trp) c.1207C>T (p.Arg403Trp) c.1444C>T (p.Arg482Trp) c.1408C>T (p.Arg470Trp) c.1315C>T (p.Arg439Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.49251441G= | CA2428551330 | FOXP3 | c.1084C= (p.Arg362=) c.1189C= (p.Arg397=) c.1258C= (p.Arg420=) c.1108C= (p.Arg370=) c.1264C= (p.Arg422=) c.*104C= (n.*104C=) c.1219C= (p.Arg407=) c.1588C= (p.Arg530=) c.1207C= (p.Arg403=) c.1444C= (p.Arg482=) c.1408C= (p.Arg470=) c.1315C= (p.Arg439=) | dbSNP |
| X | g.49251441G>T | CA516569820 | FOXP3 | c.1084C>A (p.Arg362=) c.1189C>A (p.Arg397=) c.1258C>A (p.Arg420=) c.1108C>A (p.Arg370=) c.1264C>A (p.Arg422=) c.*104C>A (n.*104C>A) c.1219C>A (p.Arg407=) c.1588C>A (p.Arg530=) c.1207C>A (p.Arg403=) c.1444C>A (p.Arg482=) c.1408C>A (p.Arg470=) c.1315C>A (p.Arg439=) | dbSNP gnomAD v4 |