| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100408161G>C | CA316296 | PCDH19 | c.437C>G (p.Thr146Arg) | ClinVar dbSNP |
| X | g.100408161G>T | CA414009704 | PCDH19 | c.437C>A (p.Thr146Lys) | ClinVar dbSNP |
| X | g.100408161G= | CA2447977049 | PCDH19 | c.437C= (p.Thr146=) | dbSNP |
| X | g.100408161G>A | CA414009702 | PCDH19 | c.437C>T (p.Thr146Met) | ClinVar dbSNP gnomAD v4 COSMIC |