| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.41671467C>G | CA16608929 | CASK | c.493G>C (p.Val165Leu) c.511G>C (p.Val171Leu) n.207G>C c.*180G>C (n.*180G>C) | ClinVar dbSNP |
| X | g.41671467C>T | CA412998978 | CASK | c.493G>A (p.Val165Ile) c.511G>A (p.Val171Ile) n.207G>A c.*180G>A (n.*180G>A) | ClinVar dbSNP gnomAD v4 |