| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100408470G>A | CA16621151 | PCDH19 | c.128C>T (p.Ala43Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408470G= | CA2447977163 | PCDH19 | c.128C= (p.Ala43=) | dbSNP |
| X | g.100408470G>T | CA414011315 | PCDH19 | c.128C>A (p.Ala43Asp) | dbSNP gnomAD v4 |