| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77688843G>T | CA413722488 | ATRX | c.569C>A (p.Pro190His) c.455C>A (p.Pro152His) c.*197C>A (n.*197C>A) c.404C>A (p.Pro135His) c.452C>A (p.Pro151His) c.290C>A (p.Pro97His) c.384C>A c.566C>A (p.Pro189His) n.837C>A c.449C>A (p.Pro150His) c.401C>A (p.Pro134His) c.338C>A (p.Pro113His) c.335C>A (p.Pro112His) c.287C>A (p.Pro96His) n.794C>A | dbSNP |
| X | g.77688843G>A | CA16043718 | ATRX | c.569C>T (p.Pro190Leu) c.455C>T (p.Pro152Leu) c.*197C>T (n.*197C>T) c.404C>T (p.Pro135Leu) c.452C>T (p.Pro151Leu) c.290C>T (p.Pro97Leu) c.384C>T c.566C>T (p.Pro189Leu) n.837C>T c.449C>T (p.Pro150Leu) c.401C>T (p.Pro134Leu) c.338C>T (p.Pro113Leu) c.335C>T (p.Pro112Leu) c.287C>T (p.Pro96Leu) n.794C>T | ClinVar dbSNP |