| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100407226A>C | CA414002867 | PCDH19 | c.1372T>G (p.Tyr458Asp) | dbSNP gnomAD v4 |
| X | g.100407226A>T | CA414002868 | PCDH19 | c.1372T>A (p.Tyr458Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407226A>G | CA16621148 | PCDH19 | c.1372T>C (p.Tyr458His) | ClinVar dbSNP |