| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70035478G>A | CA255657 | EDA | c.1045G>A (p.Ala349Thr) c.1039G>A (p.Ala347Thr) c.1030G>A (p.Ala344Thr) c.649G>A (p.Ala217Thr) c.1036G>A (p.Ala346Thr) c.1003G>A (p.Ala335Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.70035478G>T | CA330952728 | EDA | c.1045G>T (p.Ala349Ser) c.1039G>T (p.Ala347Ser) c.1030G>T (p.Ala344Ser) c.649G>T (p.Ala217Ser) c.1036G>T (p.Ala346Ser) c.1003G>T (p.Ala335Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.70035478G= | CA2435981940 | EDA | c.1045G= (p.Ala349=) c.1039G= (p.Ala347=) c.1030G= (p.Ala344=) c.649G= (p.Ala217=) c.1036G= (p.Ala346=) c.1003G= (p.Ala335=) | dbSNP |