| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85958965G>A | CA10465535 | CHM | c.715C>T (p.Arg239Ter) n.126+68526C>T c.652C>T (p.Arg218Ter) c.271C>T (p.Arg91Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.85958965G= | CA2442478892 | CHM | c.715C= (p.Arg239=) n.126+68526C= c.652C= (p.Arg218=) c.271C= (p.Arg91=) | dbSNP |