| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.41589562G>C | CA329233030 | CASK | c.1186C>G (p.Pro396Ala) c.1168C>G (p.Pro390Ala) c.1204C>G (p.Pro402Ala) c.-126C>G (n.-126C>G) c.631C>G (p.Pro211Ala) n.882C>G c.613C>G (p.Pro205Ala) c.31C>G (p.Pro11Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.41589562G>A | CA121539 | CASK | c.1186C>T (p.Pro396Ser) c.1168C>T (p.Pro390Ser) c.1204C>T (p.Pro402Ser) c.-126C>T (n.-126C>T) c.631C>T (p.Pro211Ser) n.882C>T c.613C>T (p.Pro205Ser) c.31C>T (p.Pro11Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |