| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70027902_70027919del | CA261498 | EDA | c.572_589del (p.Pro191_Pro196del) c.176_193del (p.Pro59_Pro64del) | ClinVar dbSNP gnomAD v4 |
| X | g.70027902_70027919dup | CA642473159 | EDA | c.572_589dup (p.Pro196_Gln197insProGlyProProGlyPro) c.176_193dup (p.Pro64_Gln65insProGlyProProGlyPro) | dbSNP gnomAD v2 gnomAD v4 |