| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033413del | CA273143 | EDA | c.809del (p.Val270GlyfsTer10) c.800del (p.Val267GlyfsTer10) c.413del (p.Val138GlyfsTer10) | ClinVar dbSNP |
| X | g.70033413T= | CA3065059413 | EDA | c.809T= (p.Val270=) c.800T= (p.Val267=) c.413T= (p.Val138=) | dbSNP |