| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49075636G>A | CA214842 | WDR45 | c.634C>T (p.Gln212Ter) c.667C>T (p.Gln223Ter) c.637C>T (p.Gln213Ter) c.413C>T c.328C>T (p.Gln110Ter) c.529C>T (p.Gln177Ter) n.208C>T n.1791C>T c.532C>T (p.Gln178Ter) c.130C>T (p.Gln44Ter) n.239C>T c.433C>T (p.Gln145Ter) n.331C>T c.*285C>T (n.*285C>T) c.562C>T (p.Gln188Ter) | ClinVar dbSNP |
| X | g.49075636G>T | CA412944057 | WDR45 | c.634C>A (p.Gln212Lys) c.667C>A (p.Gln223Lys) c.637C>A (p.Gln213Lys) c.413C>A c.328C>A (p.Gln110Lys) c.529C>A (p.Gln177Lys) n.208C>A n.1791C>A c.532C>A (p.Gln178Lys) c.130C>A (p.Gln44Lys) n.239C>A c.433C>A (p.Gln145Lys) n.331C>A c.*285C>A (n.*285C>A) c.562C>A (p.Gln188Lys) | dbSNP gnomAD v4 |