| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033499G>A | CA261509 | EDA | c.895G>A (p.Gly299Ser) c.886G>A (p.Gly296Ser) c.499G>A (p.Gly167Ser) c.882+13G>A (n.882+13G>A) | ClinVar dbSNP |
| X | g.70033499G= | CA2435981320 | EDA | c.895G= (p.Gly299=) c.886G= (p.Gly296=) c.499G= (p.Gly167=) c.882+13G= (n.882+13G=) | dbSNP |
| X | g.70033499G>T | CA413448972 | EDA | c.895G>T (p.Gly299Cys) c.886G>T (p.Gly296Cys) c.499G>T (p.Gly167Cys) c.882+13G>T (n.882+13G>T) | ClinVar dbSNP |