| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100406878C>A | CA16621901 | PCDH19 | c.1720G>T (p.Glu574Ter) | ClinVar dbSNP |
| X | g.100406878C>T | CA414002121 | PCDH19 | c.1720G>A (p.Glu574Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.100406878C>G | CA414002120 | PCDH19 | c.1720G>C (p.Glu574Gln) | dbSNP gnomAD v4 |
| X | g.100406878C= | CA2447976497 | PCDH19 | c.1720G= (p.Glu574=) | dbSNP |