| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100407567G>C | CA414004645 | PCDH19 | c.1031C>G (p.Pro344Arg) | ClinVar dbSNP |
| X | g.100407567G>A | CA316333 | PCDH19 | c.1031C>T (p.Pro344Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.100407567G>T | CA414004648 | PCDH19 | c.1031C>A (p.Pro344Gln) | ClinVar dbSNP |