| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033521A>G | CA16621474 | EDA | c.917A>G (p.Gln306Arg) c.908A>G (p.Gln303Arg) c.521A>G (p.Gln174Arg) c.882+35A>G (n.882+35A>G) | ClinVar dbSNP |
| X | g.70033521A>T | CA175986 | EDA | c.917A>T (p.Gln306Leu) c.908A>T (p.Gln303Leu) c.521A>T (p.Gln174Leu) c.882+35A>T (n.882+35A>T) | ClinVar dbSNP |