| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100408456C>A | CA121300 | PCDH19 | c.142G>T (p.Glu48Ter) | ClinVar dbSNP |
| X | g.100408456C>T | CA414011287 | PCDH19 | c.142G>A (p.Glu48Lys) | dbSNP gnomAD v2 |
| X | g.100408456C= | CA2447977156 | PCDH19 | c.142G= (p.Glu48=) | dbSNP |