| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77688879A>C | CA413722623 | ATRX | c.533T>G (p.Val178Gly) c.419T>G (p.Val140Gly) c.*161T>G (n.*161T>G) c.368T>G (p.Val123Gly) c.416T>G (p.Val139Gly) c.254T>G (p.Val85Gly) c.348T>G c.530T>G (p.Val177Gly) n.801T>G c.413T>G (p.Val138Gly) c.365T>G (p.Val122Gly) c.302T>G (p.Val101Gly) c.299T>G (p.Val100Gly) c.251T>G (p.Val84Gly) n.758T>G | dbSNP |
| X | g.77688879A>T | CA16609550 | ATRX | c.533T>A (p.Val178Asp) c.419T>A (p.Val140Asp) c.*161T>A (n.*161T>A) c.368T>A (p.Val123Asp) c.416T>A (p.Val139Asp) c.254T>A (p.Val85Asp) c.348T>A c.530T>A (p.Val177Asp) n.801T>A c.413T>A (p.Val138Asp) c.365T>A (p.Val122Asp) c.302T>A (p.Val101Asp) c.299T>A (p.Val100Asp) c.251T>A (p.Val84Asp) n.758T>A | ClinVar dbSNP |