| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.124524333C>G | CA348201633 | CNTNAP5 | c.1358C>G (p.Ser453Trp) c.1355C>G (p.Ser452Trp) | dbSNP |
| 2 | g.124524333C>T | CA1855846 | CNTNAP5 | c.1358C>T (p.Ser453Leu) c.1355C>T (p.Ser452Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.124524333C= | CA1285494267 | CNTNAP5 | c.1358C= (p.Ser453=) c.1355C= (p.Ser452=) | dbSNP |