| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85958872G>A | CA270018 | CHM | c.808C>T (p.Arg270Ter) n.126+68619C>T c.745C>T (p.Arg249Ter) c.364C>T (p.Arg122Ter) | ClinVar dbSNP |
| X | g.85958872G= | CA2442478863 | CHM | c.808C= (p.Arg270=) n.126+68619C= c.745C= (p.Arg249=) c.364C= (p.Arg122=) | dbSNP |