| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.15321727G>T | CA515464225 | PIGA | c.1234C>A (p.Arg412=) c.289C>A (p.Arg97=) c.*715C>A (n.*715C>A) c.*495C>A (n.*495C>A) n.506C>A c.127C>A (p.Arg43=) c.727C>A (p.Arg243=) c.532C>A (p.Arg178=) n.1467C>A c.*503C>A (n.*503C>A) n.575C>A n.976C>A n.692C>A c.541C>A (p.Arg181=) | ClinVar dbSNP |
| X | g.15321727G>A | CA128816 | PIGA | c.1234C>T (p.Arg412Ter) c.289C>T (p.Arg97Ter) c.*715C>T (n.*715C>T) c.*495C>T (n.*495C>T) n.506C>T c.127C>T (p.Arg43Ter) c.727C>T (p.Arg243Ter) c.532C>T (p.Arg178Ter) n.1467C>T c.*503C>T (n.*503C>T) n.575C>T n.976C>T n.692C>T c.541C>T (p.Arg181Ter) | ClinVar dbSNP COSMIC |