| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100350665G>C | CA10468738 | PCDH19 | c.157C>G (p.Arg53Gly) c.2515C>G (p.Arg839Gly) c.2656C>G (p.Arg886Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100350665G>A | CA316377 | PCDH19 | c.157C>T (p.Arg53Ter) c.2515C>T (p.Arg839Ter) c.2656C>T (p.Arg886Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.100350665G= | CA2447958543 | PCDH19 | c.157C= (p.Arg53=) c.2515C= (p.Arg839=) c.2656C= (p.Arg886=) | dbSNP |